Cleft Palate and Craniofacial Disorders Patient and Family Resources

A cleft lip is a condition where there is an opening (cleft) in the lip. It is one of the most common craniofacial disorders.

Incomplete unilateral cleft

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When one side of the lip has a cleft, it's called a unilateral cleft lip. If the unilateral cleft does not go all the way to the nose, it's called an incomplete unilateral cleft lip.

Complete unilateral cleft

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If the cleft is on one side of the lip and goes all the way to the base of the nose, it's called it a complete unilateral cleft lip.

Bilateral cleft

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When both sides of the lip have a gap that goes all the way to the nose, it's called a complete bilateral cleft lip.

Causes

Each year, one in 700 newborns is born with a cleft lip. A cleft lip occurs when the parts that form the mouth don't join together properly. This happens very early in the pregnancy, within the first four to 12 weeks. Cleft lips can be caused by both genetic and environmental factors.

Impact on child

We use our lips to do many things from eating and drinking to speaking. Patients with cleft lips may have issues related to their:
 

• Speech
• Feeding
• Growth/development
• Dental health

Treatment

Cleft lips can be successfully treated with surgery. Our team's plastic surgeons and orthodontists work with our patients' parents to choose the best timing for surgery. In most cases, a baby's cleft lip will be repaired within the first three to four months after birth. The actual timing of the surgery depends on the patient's general health and the nature of the cleft lip.

These steps outline the usual treatment and follow up plans. The Cleft Palate/Craniofacial Program will contact you to make arrangements for these assessments, unless otherwise stated.

A baby born with a cleft lip should be referred as soon as possible after birth for care coordination and family education.

Newborn nursing consultation and follow-up at birth

You and your family will learn about and get support for diagnosis, feeding and treatment plans. This happens during a visit or by telephone. Nursing consultation is available to the family on an ongoing basis.

Orthodontic evaluation – within the first two weeks:

The cleft lip is assessed and, if needed, your baby is fitted for an orthodontic appliance/nostril splinting and lip taping. Follow-up visits are arranged with the orthodontist.

Plastic surgeon consultation at four to six weeks of age:

The plastic surgeon assesses the cleft and begins planning for surgery. The plastic surgeon’s office will contact you directly for a consultation appointment.

Pre-admission clinic consultation four weeks before lip repair surgery:

An anesthetist and nurse make sure that your baby is ready to have anesthetic and surgery.

Cleft lip surgery at approximately four to six months of age:

This is a one or two night hospital stay. The plastic surgeon’s office will notify you of the date of surgery for your child.

Plastic surgery follow-up appointment:

This happens six weeks after the cleft lip repair. This may be done in your own community as directed by the surgeon.

Cleft palate team assessment at two years of age:

This assessment happens at BC Children’s Hospital and includes visits with a pediatrician or a nurse practitioner, speech and language pathologist, plastic surgeon, otolaryngologist and dentistry. This is a two-day outpatient visit.

Regular team follow-up as directed by team members

Resources

• Treatment and follow-up for a cleft lip (PDF)
• Treatment and follow-up for cleft lip and palate (PDF)
• Guide for feeding your baby with cleft lip and/or palate (PDF)
• Nostril splinting before surgery for newborns with cleft lip nasal deformity (PDF)
• Orthodontic appliance for newborns with cleft lip and cleft palate (PDF)
• Caring for your child after a cleft lip surgery (PDF)
• Children's Craniofacial Association
• Alveolar bone graft (PDF)

The palate is the roof of your mouth and it's made of two pieces:

• The hard palate, which is the part right behind the teeth; you can feel it with your tongue
• The soft palate, which is at the very back of the mouth, near the throat

A cleft is an opening or a gap, so a cleft palate is a condition where there is a gap in the roof of your mouth. Types of cleft palates include:

• When the gap is only in the soft palate, it's called an incomplete/partial cleft palate
• When there is a gap in the both the hard and soft palate, it's called a complete cleft palate.
• A complete cleft can occur in one or both sides. If it's on one side, it's called unilateral cleft. If the cleft occurs on both sides, it's called a bilateral cleft.

Causes

A cleft palate occurs when the parts that form the palate don't join together properly. This happens very early in the pregnancy, within the first six to eight weeks. Both genetic and environmental factors can cause cleft palates.

Impact on child

The palate separates the mouth from the nose. We use it when we eat, drink and speak. A cleft palate may impact a child's:

• Speech
• Hearing
• Dental development
• Feeding
• Growth/development

Treatment

Cleft palates can be successfully corrected with surgery. Our team works with our patients' parents to choose the best time for surgery. In most cases, a baby's cleft palate should be repaired by the time the baby reaches the age of twelve months. Determining when to have surgery will depend on the patient's general health and the nature of the cleft palate.

These steps outline the usual treatment and follow-up plans. The Cleft Palate/Craniofacial Program will contact you to make arrangements for these assessments, unless otherwise stated.

A baby born with a cleft palate should be referred as soon as possible after birth for program coordination and family education.

Newborn nursing consultation and follow-up at birth:

You and your family will learn about and get support for diagnosis, feeding and treatment plans. This happens during a visit or by telephone. Nursing consultation is available to the family on an on-going basis.

Plastic surgeon consultation at four to six weeks of age:

The plastic surgeon assesses the cleft and begins planning for surgery. The plastic surgeon’s office will contact you directly for a consultation appointment.

Cleft palate team assessment at nine to ten months of age:

This appointment happens at BC Children’s Hospital and includes time with a pediatrician or nurse practitioner, an audiologist, a speech language pathologist, and otolaryngology (ear, nose and throat –ENT). This is a one or two day outpatient visit.

Pre-admission clinic consultation:

An anesthetist and nurse make sure that your baby is ready to have anesthetic and surgery. This visit may happen at the same time as the cleft palate team assessment above.

Cleft palate and middle ear tube surgery at approximately nine to twelve months of age (or as directed by the plastic surgeon):

This is usually a two or three night hospital stay. The plastic surgeon’s office will notify you of the date of surgery for your child.

Plastic surgery, audiology and otolaryngology (ENT) recheck:

This happens six to eight weeks after cleft palate and middle ear tube surgery. The recheck may be done in the family’s own community as directed by your child’s surgeon(s).

Cleft palate team assessment at two years of age:

This assessment happens at BC Children’s Hospital and includes visits with a pediatrician or nurse practitioner, speech and language pathology, plastic surgery and otolaryngology. This is a two-day outpatient visit.

Regular team follow-up as directed by team members

Resources

• Treatment and follow-up for a cleft palate (PDF)
• Treatment and follow-up for cleft lip and palate (PDF)
• Guide for feeding your baby with cleft lip and/or palate (PDF)
• Caring for your child after a cleft lip surgery (PDF)
• Children's Craniofacial Association

CHARGE syndrome is condition that occurs when different types of tissue do not develop completely. This happens very early in pregnancy, within the first three to four weeks. Children born with CHARGE syndrome often have multiple serious medical conditions that affect many different systems in their bodies. The diagnosis of CHARGE syndrome is based on a combination of major and minor characteristics.

The word CHARGE is based on the major symptoms of the condition; it stands for:

• C- Coloboma of the eye (a hole in one of the structures of the eye)
• H- Heart defects
• A- Atresia of the choanae (narrow or blocked nasal cavities)
• R- Retardation of growth and/or development
• G- Genital and/or urinary abnormalities
• E- Ear abnormalities and deafness

Causes

CHARGE syndrome occurs in one in 8,500 to 10,000 births (1). It’s a genetic disorder, which means it's caused by changes (mutations) in a gene(s). Genes, which are passed from parents to children, determine a person's traits, including appearance and growth. Mutated genes can be inherited from a parent, caused by environmental factors or occur randomly. In most cases, CHARGE syndrome is caused by a random (new) mutation in a gene.

(1) National Library of Medicine's Genetics Home Reference

Impact on child

Children with CHARGE syndrome have many serious, potentially life-threatening medical challenges. Due to the range of symptoms, each child is impacted differently. Symptoms may include (but are not limited to):

• Impairment or loss of vision
• Heart abnormalities
• Cleft lip and/or palate
• Narrowing or blockage of the nasal cavities (atresia of the choanae)
• Impaired growth and/or development
• Genital and/or urinary abnormalities
• Ear abnormalities and hearing loss

Treatment

Due to the range and severity symptoms, each child’s treatment is unique. Our team works with our patients and their families to develop a treatment plan that addresses each patient’s specific needs.

Resources

• CHARGE Syndrome Foundation
• National Library of Medicine's genetics home reference
• About Face
• Children's Craniofacial Association
• Alveolar bone graft (PDF)
• Guide for feeding your baby with cleft lip and/or palate (PDF)
• Nostril splinting before surgery for newborns with cleft lip nasal deformity (PDF)
• Orthodontic appliance for newborns with cleft lip and cleft palate (PDF)
• Caring for your child after a cleft lip surgery (PDF)
• Caring for your child after a cleft palate surgery (PDF)
• Treatment and follow-up for a cleft lip (PDF)
• Treatment and follow-up for a cleft palate (PDF)
• Treatment and follow-up for cleft lip and palate (PDF)
• Orthodontic Program for children with cleft lip and palate and syndromic craniofacial anomalies (PDF)

Pierre Robin sequence, also called Robin sequence, Pierre Robin syndrome, or PRS, is a condition where babies are born with a small lower jaw, resulting in difficulties with breathing (airway obstruction) or feeding and growing. They often (but not always) have a cleft of the palate (an opening in the roof of the mouth). The functional difficulties typically start at or shortly after birth.

About half of children with PRS have a syndrome or a genetic cause for their small jaw and may have other associated features.

Causes

The cause of PRS is still not fully understood. It is thought to start as a small jaw, which means the tongue does not have enough room to sit in the mouth. It may tilt back, blocking the airway, and may sit high in the mouth, blocking the roof of the mouth (palate) from closing during normal development. Why the jaw is small in the first place is not known, but in some cases, it is because of a genetic difference in the baby.

Some babies have a family history of PRS or similar problems, although most don't.

Impact on child

Your baby may have a small jaw and cleft palate, along with breathing difficulties, which can be present from birth. These may show in one or more of the following ways:

• Your baby may appear to be working hard to take breaths and look worn out and tired with breathing
• Their chest appears to be sucking in with each breath
• A grey or blue colour appears around their lips, even if your baby is still breathing
• Their breathing may be noisy (especially when breathing in)
• Your child may hold their breath or be unable to breathe, especially when sleeping on their back

Children with PRS can have poor weight gain due to the cleft palate causing feeding problems, but also because their breathing problems become harder to manage when they try to breathe and feed at the same time.
You might notice some of the following signs in your baby:
They take a long time to feed, get tired easily and don't take all the milk

• Difficulty latching to the breast
• Coughing, choking or arching the back when feeding
• Poor weight gain
• Reflux (milk or stomach acid coming back up) from the nose and/or mouth

If your baby does not receive the appropriate medical treatment, they may have ongoing problems with nutrition and weight gain, or they may have increasing difficulty with their breathing.

Treatment

The treatment will depend on the extent of breathing and feeding difficulties. Your baby may need to stay in the hospital for observation and treatment, including:

• Breathing support
• Nutrition and feeding support
• Close observation of weight gain
• Monitoring of vital signs (e.g., heart rate) and ongoing breathing assessments

Babies with PRS often do much better sleeping in the prone position (lying on their stomach) or on their side. This allows their jaw and tongue to move forward and open their airway, making breathing easier. Prone positioning is a medical recommendation for PRS babies despite the general pediatric “back-to-sleep” advice for the prevention of SIDS.

Sometimes, assistance to keep the airway open is required. This involves the insertion of a tube known as a nasopharyngeal (nay-so-faran-jeel) airway, or NPA. This tube goes into the nose and sits in the back of the throat holding the tongue forward so it cannot block the airway.

Most babies with PRS outgrow the breathing problems within three to six months as their airway grows. Occasionally, breathing problems persist, or the airway obstruction becomes severe and life-threatening. In these cases, your baby may need surgical treatment, such as a tongue lip adhesion, floor of mouth release, jaw distraction, or, rarely, a tracheostomy.

Babies with PRS need to have follow-up appointments with the cleft palate team members and with neonatologists (doctors specializing in newborn babies) and the respiratory team to ensure that any breathing and feeding problems are getting better.

If your baby has a cleft palate, consultation with the cleft team, including plastic and ENT (ear, nose and throat) surgeons, speech pathologists and a pediatrician will be required. Repair of the cleft palate in babies with PRS is often delayed until 12 to 18 months of age and is planned in consultation with the whole cleft care team.

Your baby will need to have regular hearing assessments, as hearing difficulties often occur due to fluid in the middle ear that does not drain out in the usual way. It is common for an ear, nose and throat (ENT) surgeon to insert ventilation tubes in the ears (ear tubes) at the same time as the operation to close the cleft palate.

All babies with PRS should have at least one appointment with a children's eye doctor for a review.

Source (used with permission): https://www.rch.org.au/kidsinfo/fact_sheets/Pierre_Robin_sequence_PRS/

Stickler syndrome is a genetic disorder that can cause vision, hearing and joint problems. Also known as hereditary progressive arthro-ophthalmopathy, Stickler syndrome is usually diagnosed during infancy or childhood.

Children who have Stickler syndrome have distinctive facial features including prominent eyes, a small nose with a scooped-out facial appearance and a receding chin. They are often born with an opening in the roof of the mouth (cleft palate).

While there is no cure for Stickler syndrome, there are treatments and supports. In some cases, surgery can be helpful to correct some of the physical differences seen in Stickler syndrome.

Causes

Stickler syndrome is caused by mutations in certain genes involved in the formation of collagen, one of the building blocks of many types of connective tissues.

A child is more likely to be born with Stickler syndrome if they have a parent with the disorder.

Impact on child

The symptoms of Stickler syndrome, and the severity of those differences, can vary widely from person to person, even within the same family.

• Eye problems. In addition to having severe nearsightedness, children who have Stickler syndrome often experience cataracts, glaucoma and retinal detachments.
• Hearing difficulties. The extent of hearing loss varies among people who have Stickler syndrome. It usually affects the ability to hear high frequencies.
• Bone and joint abnormalities. Children who have Stickler syndrome often have overly flexible joints and are more likely to develop abnormal curvatures of the spine, such as scoliosis. Osteoarthritis can begin in adolescence.

Treatment

There is no cure for Stickler syndrome. Treatment addresses the symptoms of the disorder.

Therapy 

• Speech therapy. Your child may need speech therapy if cleft palate or hearing loss interferes with their ability to learn how to pronounce certain sounds.
• Physical therapy. In some cases, physical therapy may help with mobility differences associated with joint pain and stiffness. Splints, orthotics (shoe inserts) or other devices may also help with mobility.
• Hearing aids. If your child has problems hearing, you may find that their quality of life is improved by wearing a hearing aid.
• Special education. Hearing or vision problems may cause learning difficulty in school, so special education services may be helpful.

Surgery 

• Tracheostomy. Newborns with very small jaws and displaced tongues may need a tracheostomy to create a hole in their throat so that they can breathe. The operation is reversed once the baby has grown large enough that their airway is no longer blocked.
• Jaw surgery. Surgeons can lengthen the lower jaw by cutting the jawbone and implanting a device that will gradually stretch the bone as it heals.
• Cleft palate repair. Babies born with a hole in the roof of the mouth (cleft palate) typically undergo surgery in which tissue from the roof of the mouth may be stretched to cover the gap.
• Ear tubes. The surgical placement of a short plastic tube in the eardrum can help reduce the frequency and severity of ear infections which are especially common in children who have Stickler syndrome.
• Eye surgeries. Surgeries to remove cataracts or procedures to reattach the lining of the back of the eye (retina) may be necessary to preserve vision.
• Joint replacement. Early-onset arthritis, particularly in the hips and knees, may necessitate joint replacement surgeries at a younger age than is typical for the general population.
• Spinal bracing or fusion surgeries. Children who develop abnormal curves in their spines, such as those seen in scoliosis and kyphosis, may require corrective surgery. Milder curves often can be treated with a brace.

Source (used with permission): www.mayoclinic.org

Resources

• BC 22q planning
• Information for teachers
• Recommendations for managing children
• Recommendations for managing adults

Craniosynostosis is a condition that affects the shape of the head and face. It occurs when the bones of the skull close too early, before the brain has finished growing. A newborn's skull has seven bones which are separated by spaces called sutures. As an infant's brain grows, it pushes the bones of the skull outward.

Craniosynostosis prevents the brain from growing normally, so the head becomes misshapen. Because there are multiple sutures that can fuse, there a several different types of craniosynostosis:
 

• Sagittal synostosis occurs when the suture at the top of the head (the sagittal suture) closes too early, forcing the head to grow long and narrow, instead of wide.
• Coronal synostosis (anterior plagiocephaly) occurs when one of the sutures that runs from the ear to the top of head (a coronal suture) closes too early, forcing the head to flatten on the fused side.
• Bicoronal synostosis (brachycephaly) occurs when both of the sutures that run from the ear to the top of head (the coronal sutures) close too early, forcing the forehead and brow to become flat and elevated.
• Metopic synostosis (trigonocephaly) occurs when the suture that runs from the nose to the top of the head (the metopic suture) closes too early, forcing the top of the head to have a triangular shape.
• Lambdoid synostosis (posterior plagiocephaly) occurs when the suture at the back of the head closes too early (lambdoid suture), forcing the head to flatten on the fused side.

Causes

Craniosynostosis occurs in one in 2,500 births (1). When cause of craniosynostosis is unknown, it's classified as non-syndromic. When craniosynostosis is a symptom of a medical condition, it's classified as syndromic. Craniosynostosis is often a symptom of Apert, Pfeiffer and Crouzon syndromes.

(1) Slater BJ, Lenton KA, Kwan MD, Gupta DM, Wan DC, Longaker MT (April 2008). "Cranial sutures: a brief review". Plast. Reconstr. Surg. 121 (4): 170e–8e.

Impact on child

Because craniosynostosis affects the growth of the head and face there are a range of symptoms which may include (but are not limited to):
 

• Missing "soft spot" (fontanelle) on the newborn's skull
• A raised hard ridge along the affected sutures
• Irregular head and face shape
• Impaired head growth
• Increased intracranial pressure
• Dental malformations

Treatment

Treating craniosynostosis usually involves surgery to separate the fused bones. Our team works with our patients and their families to develop a treatment plan that addresses each patient's specific needs.

Resources

• MedlinePlus: Craniosynostosis
• Children's Craniofacial Association
• About Face

Apert syndrome is a condition that causes abnormal growth of the head, face, hands and feet. During pregnancy, the skull bones join together too early, which prevents them from growing normally. As a result, the area between the bottom of the eyes and jaw are often underdeveloped, making the eyes appear more prominent. Webbed fingers and toes are also common in children born with Apert syndrome.

Causes

One in 65,000 to 88,000 children are born with Apert syndrome(1). Apert syndrome is a genetic disorder, which means it's caused by changes (mutations) in a gene(s). Genes, which are passed from parents to children, determine a person's traits, including appearance and growth. Mutated genes can be inherited from a parent, caused by environmental factors or occur randomly.

(1) National Library of Medicine's Genetics Home Reference

Impact on child

Because Apert syndrome affects the growth of the head, face, hands and feet, there are a range of symptoms which may include (but are not limited to):
 

• Underdevelopment of the mid-face
• Protruding eyes
• Webbed or fused fingers and toes (syndactyly)
• Extra fingers or toes (polydactyl)
• Cleft palate (palatoschisis)
• Ear infections
• Hearing loss
• Impaired vision
• Increased sweating (hyperhidrosis)
• Intellectual disability (ranging from normal to moderately severe)

Treatment

Many of the symptoms of Apert syndrome can be treated. Our team works with our patients and their families to develop a treatment plan that addresses each patient’s specific needs. Treatment plans for patients with Apert syndrome often include surgeries to correct the shape of the head and face, as well as the webbing/fusion of the fingers and toes.

Resources

• Alveolar bone graft (PDF)
• Guide for feeding your baby with cleft lip and/or palate (PDF)
• Orthodontic appliance for newborns with cleft lip and Cleft Palate (PDF)
• Caring for your child after a cleft palate surgery (PDF)
• Treatment and follow-up for a cleft palate (PDF)
• Treatment and follow-up for cleft lip and palate (PDF)
• Orthodontic program for children with cleft lip and palate and syndromic craniofacial anomalies (PDF)
• CCA: Apert syndrome
• Medline Plus (US National Library of Medicine): Apert syndrome
• About Face

Muenke syndrome is the most common craniosynostosis syndrome, occurring in approximately one in 30,000 births. Primarily affecting the bones of the skull, Muenke syndrome is a condition characterized by the premature closure of the coronal sutures of the skull (coronal craniosynostosis) during development. This affects the shape of the head and face. Other variable features include abnormalities of the hands or feet, hearing loss and developmental delay.

Causes

Muenke syndrome is caused by a specific mutation in the FGFR3 gene, called the P250R mutation. In most cases, this mutation arises randomly or by chance. We do not yet fully understand what causes this mutation. However, it does not appear that the mutation occurs as a result of something either parent does or fails to do. Most parents who have a baby with Muenke syndrome have normal genes.

Children with Muenke syndrome can pass the condition on to their children. The mutation is passed in an autosomal dominant fashion, meaning that only one copy of the gene needs to be passed on for the new baby to have this syndrome. In practical terms, autosomal dominant inheritance means that there is a 50-50 chance of a parent with Muenke syndrome having a baby that also has this condition.

Impact on child

Children with Muenke syndrome characteristically have fusion of one or both of the coronal sutures. The coronal sutures are specialized expansion joints in the skull which allow rapid growth of the front part of the skull in the first years of life. In 70 per cent of cases, children with Muenke syndrome present with both coronal sutures fused. In the remainder of cases, only one of the sutures will generally be involved. Fusion of one or both of the coronal sutures leads to restricted skull growth and changes in the shape of the orbit (eye socket) giving a very characteristic shape to the forehead and eye.

Up to half of children with this syndrome also have sensorineural hearing loss.

Treatment

The treatment of Muenke syndrome involves correction of the size and shape of the skull and orbit, and is similar to the treatment of non-syndromic unicoronal or bicoronal craniosynostosis. Although the timing of surgery can vary, surgery is most often done between six and 12 months of age. Surgery is usually performed through a scalp incision that lies concealed within the hair. Your craniofacial surgeon will work together with a neurosurgeon. For unicoronal craniosynostosis, surgeons will remove and reshape the bones of the forehead and upper eye sockets to give a more typical skull, face, and orbit shape. For bicoronal craniosynostosis, the surgical team may offer a forehead and eye socket reshaping surgery, or may prefer to do a different type of surgery, called distraction, to grow the back of the head, both for volume and appearance.

Source (used with permission): https://www.med.unc.edu/surgery/plastic/forpatients/pediatric-plastic-and-craniofacial-surgery/muenke-syndrome/

Pfeiffer syndrome is a rare genetic condition affecting primarily the skull and facial bones. Children with Pfeiffer syndrome have craniosynostosis involving multiple cranial sutures and underdevelopment of the facial bones. Studies have shown that Pfeiffer syndrome occurs in approximately one in 100,000 births. Usually Pfieffer syndrome is diagnosed at or shortly after birth, based on the characteristic appearance of the face and skull. The suspected diagnosis is confirmed by genetic testing.

Causes

Pfeiffer syndrome is caused by mutations in the fibroblast growth factor receptor genes (FGFR-1 or FGFR-2), located on Chromosomes 8 and 10, respectively. In most cases, these mutations arise randomly and sporadically. We do not yet fully understand what causes this mutation. However, it does not appear that the mutation occurs as a result of something either parent does or fails to do. Most parents who have a baby with Pfeiffer syndrome have normal genes.

Children with Pfeiffer syndrome can pass the condition on to their children. The mutation is passed in an autosomal dominant fashion, meaning that only one copy of the gene needs to be passed on for the new baby to have this syndrome. In practical terms, autosomal dominant inheritance means that there is a 50-50 chance of a parent with Pfeiffer syndrome having a baby that also has this condition. Anyone with Pfeiffer syndrome who wishes to have children can consider meeting with a geneticist in order to discuss the risks and make a thoughtful, informed decision.

Impact on child

The skull is made up of a number of plates of bone, joined together at specialized joints called sutures. These sutures act like expansion joints, allowing the skull to get larger as your child grows and as the developing brain pushes outward. In Pfeiffer syndrome, some of these sutures fuse prematurely, preventing the skull from growing normally. Since the brain cannot push all parts of the skull outward as it grows, the brain instead pushes outward and upward in parts of the skull where these expansion joints are functioning. This leads to an abnormally shaped skull.

In addition to fused coronal sutures, children with Pfeiffer syndrome also have underdeveloped bones in the bottom part of the skull and the mid-face, the part of the face lying between the eyes and the mouth. The bones of the mid-face do not grow forward as they should. The combined effect of the slowed growth of the forehead and mid-face is to make the eyes appear large and prominent. In fact, the eyes are normal sized in children with Pfeiffer syndrome. However, they are not as well protected and surrounded by bony structures as they should be, making them appear large. Additional characteristics of children with Pfeiffer syndrome include breathing problems or obstructive sleep apnea (related to the underdeveloped mid-face), conductive hearing loss, large thumbs and big toes, a higher incidence of gastroesophageal reflux disease, developmental delays, and a higher incidence of abnormalities of the cervical (neck) spine.

Many children with Pfeiffer syndrome may also develop hydrocephalus, increased fluid in the brain due to poor drainage through the natural mechanisms. This can result in high brain pressure and a Chiari malformation, which occurs when a part of the brain, called the cerebellar tonsils, gets pushed downward through the normal hole in the bottom of the skull. When the cerebellar tonsils get wedged tightly in this hole, it can cause a certain type of sleep apnea (central sleep apnea), leading to decreased oxygen reaching the brain, particularly at night. This may hurt brain development. Children with Pfeiffer should be monitored for the development of hydrocephalus, increased brain pressure, and Chiari malformation.

Treatment

Treatment of children with Pfeiffer syndrome is complex and is aimed at correcting the skull and mid-face abnormalities and treating obstructive sleep apnea.
 

• Skull surgery: Although the timing and sequence of surgeries may vary from child to child, most children with Pfeiffer syndrome will need two to four skull operations over a lifetime. The earliest skull surgery is frequently done in the first 18 months of life.
• Mid-face surgery: The most common surgery for moving the bones of the mid-face forward in Pfeiffer syndrome is called a LeFort III advancement operation. This surgery is typically not done before your child is six to eight years of age. The primary reasons for performing a LeFort III advancement include severe obstructive sleep apnea which cannot be improved without surgery, difficulty with biting, chewing or speech, or significant patient concerns about appearance. During this operation, the bones of the mid-face are cut across the top of the nose, along the floor of the orbits (eye sockets) and across the cheekbones. Most of these cuts may be made through the same incision used for your child’s other skull surgeries. An additional incision may be placed on the inside of the mouth. No scars are placed on your child’s face. After making these cuts, the bones are either moved immediately into their final position and secured in place with plates and screws or moved gradually by a process called distraction osteogenesis. This can be done with a rigid external frame or with internal distraction devices. Which of these techniques is used depends on the age of your child at the time of surgery, their individual anatomy and the distance that the bones must be moved.
• Obstructive sleep apnea: Children with Pfeiffer syndrome frequently have obstructive sleep apnea due to the underdevelopment of the mid-face, or from choanal stenosis or atresia (decreased size or absence of the breathing holes at the back of the nose). As a result, your child should be monitored for sleep apnea by your craniofacial team. In mild cases of sleep apnea, medications may be sufficient to improve breathing. If more significant obstruction occurs, tonsillectomy or continuous positive airway pressure (CPAP) masks may help alleviate symptoms. Sometimes, a tracheostomy may be required in infants with Pfeiffer in order to ensure adequate breathing. Mid-face surgery, such as a LeFort III operation, may be needed as your child gets older in order to fully treat obstructive sleep apnea or allow for eventual removal of a tracheostomy placed in infancy. Ultimately, the goal in all of these interventions is to ensure a good airway so that your child can get enough oxygen to help them develop to their fullest potential.
   

Source (used with permission): https://www.med.unc.edu/surgery/plastic/forpatients/pediatric-plastic-and-craniofacial-surgery/pfeiffer-syndrome/

Saethre-Chotzen syndrome is a rare craniofacial syndrome which primarily affects the skull and facial bones. It frequently leads to fusion of the coronal sutures, resulting in a characteristic skull shape. Saethre-Chotzen syndrome is estimated to occur in one in 25,000-50,000 births.

The diagnosis of Saethre-Chotzen syndrome is usually suspected based on the clinical findings of abnormal skull shape and characteristic facial features. The suspected diagnosis is confirmed by a blood test to look for the TWIST gene mutation. This genetic work-up is often overseen by a geneticist who is familiar with craniofacial syndromes.

Causes

Saethre-Chotzen syndrome is caused by a mutation in the TWIST gene, located on Chromosome 7. In most cases, this mutation arises randomly or by chance. We do not yet fully understand what causes this mutation. However, it does not appear that the mutation occurs as a result of something either parent does or fails to do. Most parents who have a baby with Saethre-Chotzen syndrome have normal genes.

Children with Saethre-Chotzen syndrome can pass the condition on to their children. The mutation is passed in an autosomal dominant fashion, meaning that only one copy of the gene needs to be passed on for the new baby to have this syndrome. In practical terms, autosomal dominant inheritance means that there is a 50-50 chance of a parent with Saethre-Chotzen syndrome having a baby that also has this condition.

Impact on child

The skull is comprised of a number of plates of bone joined together at specialized joints called sutures. These sutures act like expansion joints, allowing the skull to get larger as your child grows and as the developing brain pushes outward. In Saethre-Chotzen syndrome, some the coronal sutures fuse prematurely, preventing the skull from growing normally. Since the brain cannot push all parts of the skull outward as it grows, the brain instead pushes outward and upward in parts of the skull where these expansion joints are functioning. This leads to an abnormally shaped skull which tends to be shortened front to back and perhaps taller than it should be. There is also an associated orbital deformity.

In addition to fused coronal sutures, children with Saethre-Chotzen syndrome also have a characteristic low-set hairline, a “beaked” nose and short stature (height). These children may also have syndactyly (webbed fingers), most commonly between the index and long fingers. Children with Saethre-Chotzen syndrome generally have normal intelligence and lead normal lives.

Treatment

The treatment of Saethre-Chotzen syndrome is focused on correction of the abnormal skull shape and mirrors the treatment of craniosynostosis. Although the timing of surgery can vary, surgical correction of bicoronal craniosynostosis is most often done between six and 12 months of age. Surgery is usually performed through a scalp incision that lies concealed within the hair. A craniofacial surgeon will work together with a neurosurgeon. Depending on the needs of the child, surgeons may remove and reshape the bones of the forehead and upper eye sockets to give a more typical skull, face, and orbit shape, or they may prefer to slowly grow the back of the head, called distraction, to improve both volume and appearance.

Source (used with permission): https://www.med.unc.edu/surgery/plastic/forpatients/pediatric-plastic-and-craniofacial-surgery/saethre-chotzen-syndrome/

The skull is made up of several “plates” of bone which, when we are born, are not tightly joined together. The seams where the plates join are called sutures. As we grow older, the sutures gradually fuse (stick) together, usually after all head growth has finished. When a child has craniosynostosis, the sutures fuse early, typically before birth. Craniosynostosis can affect one suture or several sutures. The premature fusing of the coronal sutures makes the forehead and eye sockets flatter as the rest of the skull compensates.

Children with bicoronal craniosynostosis have a characteristic appearance. Imaging scans, such as CT or MRI, may be suggested depending on your child’s examination but are not always required.

Bicoronal craniosynostosis may be part of a syndrome (a collection of symptoms often seen together) or it may be non-syndromic or isolated, without any other differences. Some gene mutations causing bicoronal craniosynostosis have been identified. Genetic testing may be recommended to check whether there is a genetic reason for the bicoronal craniosynostosis.

Causes

The cause of bicoronal craniosynostosis is not yet known. There may be a genetic basis to the condition as, in a small number of families, it can be passed on from parent to child.

Several genes have been identified as being associated with bicoronal craniosynostosis. Gene mutations can be passed on from parent to child but in many cases develop sporadically (out of the blue). More research is needed to identify the cause of bicoronal craniosynostosis.

Impact on child

The main symptoms of bicoronal craniosynostosis are the flatter appearance of the forehead and eye sockets and a head shape that is shorter front to back, wider side to side and taller than average.

Children with bicoronal craniosynostosis typically do well, with the majority growing up to lead a normal life, working and raising a family, although it will vary depending on the presence of a syndrome or any other medical conditions.

Treatment

Although bicoronal craniosynostosis mainly affects the skull, treatment is best delivered at a specialist centre where a multidisciplinary team approach can be taken. The multidisciplinary team will usually include craniofacial (skull and face) surgeons, neuro (brain) surgeons, ophthalmologists (eye specialists), geneticists, pediatricians, and speech and language therapists, with other specialists brought in as needed.

In many cases, initial skull reshaping surgery takes place within the first year of life. There are different types of surgery depending on the age of your child at diagnosis and their needs. The team will discuss the options with you.

There is a chance that children with bicoronal craniosynostosis may develop raised pressure in the head. This is often without symptoms initially but, if left untreated, may result in visual or neurological problems. For this reason, children with bicoronal craniosynostosis are monitored with regular eye examinations.

As the bones continue to grow during childhood and adolescence, further surgery may be needed to make minor corrections to the skull shape and forehead area.

Source (used with permission): https://www.gosh.nhs.uk/conditions-and-treatments/conditions-we-treat/bicoronal-craniosynostosis/

The skull is made up of several “plates” of bone which, when we are born, are not tightly joined together. The seams where the plates join are called sutures. As we grow older, the sutures gradually fuse (stick) together, usually after all head growth has finished. When a child has craniosynostosis, the sutures fuse early, typically before birth. Craniosynostosis can affect one suture or several sutures.

The metopic suture runs from the front fontanelle (soft spot) through the forehead to the top of the nose. Metopic craniosynostosis is also known as trigonocephaly. Metopic craniosynostosis is a type of non-syndromic craniosynostosis that occurs when the metopic suture fuses before birth.

Children with metopic craniosynostosis have a characteristic appearance, so no specific diagnostic tests are needed. Imaging scans, such as CT or MRI, may be suggested depending on your child’s examination, but are not always required. A gene mutation causing metopic craniosynostosis has not yet been identified so genetic testing will not be helpful in most cases.

Causes

The cause of metopic craniosynostosis is not yet known. In a small number of families, metopic craniosynostosis may be passed from parent to child so there may be a genetic basis. However, in most cases, it happens sporadically (out of the blue). There may be a link between the mother taking an anti-epilepsy medicine called sodium valproate during pregnancy and her baby being born with metopic craniosynostosis. Another theory for the cause of metopic craniosynostosis is that the position of the baby while in the womb may affect skull development.

Metopic craniosynostosis affects more males than females but we are not yet sure why this is. The number of babies evaluated with metopic craniosynostosis is increasing but more research is needed to find out why this is. Metopic craniosynostosis can be associated with other conditions so the doctors will examine your child closely to check if this is the case.

Impact on child

The main symptom of metopic craniosynostosis is the abnormal shape of the forehead which is pointed and triangular. There may also be a bone ridge over the prematurely-fused suture running down the forehead from the front fontanelle to the top of the nose. This early fusing of the metopic suture often makes the eyes closer set than usual.

Children with metopic craniosynostosis can have developmental delay; that is, they reach their “milestones” later than other children. Over time, many children catch up and do not need much additional support in school. There is no evidence currently that this developmental delay is a direct result of the craniosynostosis; it appears to be an association only. Surgery to correct the shape of the forehead does not change the progress of development. Children can sometimes develop behavioural problems at school age but these are overcome in most cases with input and support from specialists.

Children with metopic craniosynostosis generally do well with the vast majority growing up to lead a normal life, working and raising a family, although it will vary depending on any other medical conditions present.

Treatment

Although metopic craniosynostosis mainly affects the skull and orbits, treatment is best delivered at a specialist centre where a multidisciplinary team approach can be taken. The multidisciplinary team will usually include craniofacial (skull and face) surgeons, neuro (brain) surgeons, ophthalmologists (eye specialists), geneticists, pediatricians, and speech and language therapists, with other specialists brought in as needed.

In most cases, initial skull reshaping surgery takes place within the first year of life. There are different types of surgery depending on the age of the child at diagnosis; the team will discuss the options with the family. As the bones continue to grow during childhood and adolescence, and sometimes the forehead returns to being narrowing with growth, further surgery may be needed to make minor corrections to the skull shape and forehead area.

Source (used with permission): https://www.childrenshospital.org/conditions/metopic-synostosis-trigonocephaly

The skull is made up of several “plates” of bone which, when we are born, are not tightly joined together. The seams where the plates join are called “sutures.” As we grow older, the sutures gradually fuse (stick) together, usually after all head growth has finished. When a child has craniosynostosis, the sutures fuse early, typically before birth. Craniosynostosis can affect one suture or several sutures.

The coronal sutures run from the front fontanelle (soft spot) down to the side of the forehead. Unicoronal craniosynostosis is also known as frontal/anterior plagiocephaly. Unicoronal craniosynostosis occurs when one of the two coronal sutures fuses before birth. The premature fusing of the coronal suture makes the forehead on one side flatter while the opposite side of the forehead moves forward to compensate. The eye on the affected side will have a taller eye socket, making the eye look more open.

Children with unicoronal craniosynostosis have a characteristic appearance, so no specific diagnostic tests are needed. Unusually unicoronal craniosynostosis is non-syndromic but a DNA/genetics test may be done to see if it is occurring as a part of Muenke syndrome. Imaging scans, such as CT or MRI, may be suggested depending on your child’s examination but are not always required.

Causes

Unicoronal craniosynostosis may occur as part of Muenke syndrome but in most cases it is non-syndromic and the cause is unknown. Unicoronal craniosynostosis can be associated with other clinical conditions, such as craniofrontonasal dysplasia, so doctors will examine the child closely for other differences.

Impact on child

The main sign of unicoronal craniosynostosis is the flatter appearance of the forehead and the taller eye socket with wider eye on one side and the prominence (bossing) of the opposite side of the forehead. The top of the nose may also be tilted towards the side with the flattened forehead. Since the muscles that move the eye may be abnormally placed within the eye socket on the affected side, it may cause a squint (strabismus) to develop, so that the eyes do not always travel together. If untreated, this can affect visual development in childhood so a referral is usually made to an ophthalmologist (eye specialist).

Children with unicoronal craniosynostosis typically do well with the vast majority growing up to lead a normal life, working and raising a family.

Treatment

Although unicoronal craniosynostosis mainly affects the skull, treatment is best delivered at a specialist centre where a multidisciplinary team approach can be taken. The multidisciplinary team will usually include craniofacial (skull and face) surgeons, neuro (brain) surgeons, ophthalmologists (eye specialists), geneticists, pediatricians, and speech and language therapists, with other specialists brought in as needed.

Unicoronal craniosynostosis is not usually associated with raised pressure in the head so treatment is indicated primarily for appearance reasons. It consists of skull reshaping surgery which typically takes place within the first year of life. There are different types of surgery depending on the needs of the child and their age at diagnosis; the team will discuss the options with the child's family. As the bones continue to grow during childhood and adolescence, further surgery may be beneficial in later childhood to make adjustments to the skull shape, forehead area or nose.

There are several methods of treating a squint; what is needed will depend on the severity of the squint. The aim of all methods of treatment is to align the eyes so that they look normal and work properly. Non-surgical methods like glasses or patches may be tried first. If these methods do not correct the squint, an operation may be considered.

Source (used with permission): https://www.gosh.nhs.uk/conditions-and-treatments/conditions-we-treat/unicoronal-craniosynostosis/

Craniofacial microsomia is a condition where one or both sides of the face is underdeveloped. Craniofacial microsomia, also known as hemifacial microsomia or Goldenhar syndrome, is variable and can affect some or all of the ear, eye, skull, cheek soft tissue, jaw, facial movement, and teeth on one or both sides of the head.

Children with craniofacial microsomia tend to have a characteristic appearance so no specific diagnostic tests are needed. However, in mild cases, imaging such as x-ray or CT scans may be needed to “measure” the amount of difference in each side of the face.

Causes

In some cases, craniofacial microsomia is a genetic condition caused by a mutation (change) on a specific gene, although all of the genes are yet to be identified. In very rare cases, craniofacial microsomia can be passed from parent to child. But in most cases it develops sporadically (out of the blue) and no gene or chromosome change is found. Because of this, genetic testing is rarely suggested.

Impact on child

The symptoms of craniofacial microsomia are extremely variable and can affect various areas of the skull and face on the affected side. The jaws (both upper and lower jaws) can be underdeveloped which may cause problems with breathing, feeding or speech. Rarely, there may also be a cleft palate and differences with tooth development. The mouth may be wider than normal and missing some of the muscles surrounding it, leaving it weak and slanted downwards on the affected side.

If the skull bones are affected, the forehead and cheek on one side may appear flattened and the eye socket may be smaller than usual or displaced. Occasionally, the eye on the affected side may also be smaller or absent. The ear on the affected side may be an abnormal shape, smaller than usual or absent. The ear canal may also be absent and can be associated with hearing loss. There are also sometimes skin tags in front of the ear which do not interfere with hearing.

Sometimes other areas of the body can be affected. Children are given a full check-up to look for other differences.

The effect of having craniofacial microsomia is variable depending on the severity of the child’s symptoms and the impact on functions such as breathing, vision and hearing. Some children and families benefit from surgical, medical and psychological input at various stages throughout childhood and adolescence. Children are of normal intelligence so usually do well at school, college and university.

Treatment

As craniofacial microsomia can affect various areas of the skull and face, treatment is best delivered at a specialist centre where a multidisciplinary team approach can be taken. The multidisciplinary team will usually comprise craniofacial (skull and face) surgeons, maxillofacial (jaw and dental) surgeons, plastic surgeons, ear, nose and throat surgeons, audiologists, ophthalmologists, speech and language therapists, pediatricians, psychologists or social workers, dentists and orthodontists, with other specialists brought in as needed.

Early treatment may be needed if the underdeveloped jaw causes problems with breathing or feeding. In severe cases, surgery when the child is a baby may be needed to help with breathing or feeding.

If the position or size of the eye socket is different, this may be re-shaped so that the eye can sit in the correct position and the eyelids close to protect it. If the eye is very small or absent, a prosthesis (false eye) can be made to match the appearance of the child’s other eye.

Several options for ear reconstruction may be offered. One option is to create a “framework” for the new ear from rib cartilage and insert it under the skin on the side of the head. Another option is to use a synthetic ear framework (Medpor implant) to recreate the shape of the ear and cover it with skin on the side of the head. Alternatively, children may prefer to have a prosthetic (plastic) ear made for them, which is fixed to a bar inserted into the skull bone. All these options restore the appearance of the ear but cannot correct any hearing problems caused by a difference in the hearing structures or an absent ear canal. Hearing is tested using audiograms and can be treated with a variety of techniques and hearing aids.

In childhood, surgery to correct the underdeveloped lower jaw may be suggested. This can be done using bone from a rib or by distraction, which involves “stretching” the bone until it is a more proportionate size. The position of the teeth will need correcting later in childhood using orthodontics (braces) which may be removable or fixed for a period of months or years.

As the bone continues to grow during childhood and adolescence, further surgery may be needed when the child is done growing to make additional corrections to the shape of the jaw and face. Fat can also be taken from one part of the body and placed where the face is small to improve symmetry.

Source (used with permission): https://www.gosh.nhs.uk/conditions-and-treatments/conditions-we-treat/craniofacial-microsomia/

Nager syndrome is a congenital (present at birth) condition affecting the bones and tissues of the face. It also affects the arms and hands, and occasionally the legs and feet.

Early in pregnancy, the cheekbones, eye sockets and jaws do not develop properly. This causes a characteristic appearance with downward sloping eyes and a small lower jaw. Nager syndrome is similar to Treacher Collins syndrome, with additional differences of the arms and hands. It is often associated with cleft palate.

As children with Nager syndrome have a characteristic appearance, no specific diagnostic tests are needed. Imaging scans, such as x-ray, CT or MRI, may be suggested depending on the features and needs of the child. Imaging may also be needed to examine the internal structures of the ear alongside hearing tests to diagnose hearing loss.

Causes

Nager syndrome may be a genetic condition caused by a mutation (change) on a specific gene. However, the specific gene(s) causing Nager syndrome have not yet been identified. The gene(s) suspected in Nager syndrome alter the development of the first and second pharyngeal arches early in pregnancy. The pharyngeal arches are structures located on either side of the head and neck that develop into the features of the face and neck. In particular, the first and second pharyngeal arches form into the nerves and muscles needed for showing facial expressions and chewing, the outer ear and the structures within the middle ear.

In Nager syndrome, there are typically associated differences with arm and hand development.

Impact on child

Children with Nager syndrome have a characteristic appearance due to the differences in the development of their cheekbones, jaws and eye sockets. If the lower jaw is very small or underdeveloped, breathing difficulties may become apparent at or shortly after birth. A small jaw can also cause feeding difficulties.

The ears are often affected in children with Nager syndrome, either being absent (anotia) or small (microtia). If the internal structures of the ear are also underdeveloped this can lead to hearing impairment.

The arms and hands are also affected in Nager syndrome. Often, the elbow joint is stiff so bending the arm is difficult. The radius bone in the forearm may be missing or underdeveloped causing the hand to be bent inwards towards the body (radially deviated). This can affect all the structures on the radial side of the upper limb, including the bones and soft tissues (muscles, tendons, joints, nerves and blood vessels). The most common hand difference in children with Nager syndrome is an underdeveloped or absent thumb on both hands. The other fingers may be abnormally curved (clinodactyly), stiff or webbed (syndactyly). In some children, their legs and feet are similarly affected.

Rarely, other structures in the body are also affected.

The outlook for children born with Nager syndrome is variable depending on the severity of their symptoms and the impact it has on functions such as breathing and hearing. They will require long term monitoring, particularly during periods of growth in childhood and adolescence. Surgeries are more frequent in early childhood but are typically completed by the time the child is in their mid-twenties. Some children and families benefit from psychological input at various stages throughout childhood and adolescence.

Treatment

As Nager syndrome can affect various areas of the head and face, treatment is best delivered at a specialist centre where a multidisciplinary team approach can be taken. The multidisciplinary team will usually include craniofacial (skull and face) surgeons, maxillofacial (dental and jaw) surgeons, ear, nose and throat (ENT) surgeons, hand surgeons, plastic surgeons, audiologists (hearing specialists), dentists and orthodontists, geneticists, pediatricians, and speech and language therapists, with other specialists brought in as needed.

Supporting a child’s breathing is the first priority. For some children, their anatomy is so different that they need a tracheostomy (an artificial opening into the windpipe) to allow them to breathe. Other children may only need breathing support at night. Feeding problems may be helped with a special bottle, a feeding tube or a gastrostomy tube which goes directly into the stomach, bypassing the mouth and throat.

If the thumb is present but weak, surgery can be undertaken to stabilize any unstable joints and strengthen the thumb by taking a tendon or a muscle from elsewhere in the hand. If the thumb is absent or unstable, the index finger on that hand may be moved to the thumb position (pollicization). Finger webbing (syndactyly), if causing a problem with function, may be corrected in a series of operations during childhood.

Later in childhood, the underdeveloped jaw may require treatment, often with bone grafts and jaw distraction. This is a long-term treatment but has good results for the majority of children.

Ear reconstruction can also be carried out in later childhood, either creating a bigger ear from the child’s rib cartilage or from a plastic (Medpor) implant.

Ear reconstruction improves the appearance of the ear but it will not improve function. Children with hearing impairment will benefit from support in terms of hearing aids or cochlear implant as well as speech and language therapy.

As the bones continue to grow during childhood and adolescence, further surgery may be needed to improve facial appearance.

Source (used with permission): https://www.gosh.nhs.uk/conditions-and-treatments/conditions-we-treat/nager-syndrome/

Treacher Collins syndrome (also known as mandibulofacial dysostosis) is a congenital (present at birth) condition affecting the bones and tissues of the face.

Early in pregnancy, the cheekbones, jaws and eye sockets do not develop properly. This causes a characteristic appearance, with downward slanted eyes and a small lower jaw.

As children with Treacher Collins syndrome have a characteristic appearance, no specific diagnostic tests are needed. Imaging scans, such as x-ray or MRI, may be suggested depending on the anatomy and needs of the child. Imaging may also be needed to examine the internal structures of the ear alongside hearing tests to diagnose hearing loss.

Causes

Treacher Collins syndrome is a genetic condition caused by a mutation (change) on a specific gene. Research has identified three genes affected: TCOF1, which is the most common, as well as POLR1C and POLR1D. These genes are responsible for the formation of proteins that play an important role in how bone and tissue cells develop early in pregnancy.

The gene mutation can be passed on from parent to child but in many cases develops sporadically (out of the blue).

The TCOF1 or POLR1D gene mutation is inherited in an autosomal dominant manner. This means that a child only has to inherit the gene difference from one parent to develop the condition. The POLR1C gene is passed on in an autosomal recessive manner. This means that a child has to inherit the gene difference from both parents to develop the condition.

Impact on child

The symptoms of Treacher Collins syndrome are variable ranging from mild to severe.

Children with Treacher Collins syndrome have a characteristic appearance due to the differences in the development of their cheekbones, jaws and eye sockets. If the lower jaw is very small or underdeveloped, breathing difficulties may become apparent at or shortly after birth. A small jaw can also cause feeding difficulties.

Some children also have a cleft palate (gap in the roof of the mouth) or coloboma, a notch in the lower part of the eye. The ears are often different in children with Treacher Collins syndrome, either being absent (anotia) or small (microtia). If the internal structures of the ear are also underdeveloped, this can lead to hearing impairment.

The outlook for children born with Treacher Collins syndrome is variable depending on the severity of their symptoms and the impact it has on functions such as breathing, vision and hearing. They will require long-term monitoring, particularly during periods of growth in childhood and adolescence. Surgeries are more frequent in early childhood but are typically completed by the time the child is in their mid-twenties. Some children and families benefit from psychological input at various stages throughout childhood and adolescence.

Treatment

As Treacher Collins syndrome can affect various areas of the head and face, treatment is best delivered at a specialist centre where a multidisciplinary team approach can be taken. The multidisciplinary team will usually comprise craniofacial (skull and face) surgeons, neuro (brain) surgeons, ear, nose and throat (ENT) surgeons, audiologists (hearing specialists), dentists and orthodontists, geneticists, pediatricians, and speech and language therapists, with other specialists brought in as needed.

Supporting a child’s breathing is the first priority. For some children, their anatomy is so different that they need a tracheostomy (an artificial opening into the windpipe) to allow them to breathe. Other children may only need breathing support at night. Feeding problems may be helped with a special bottle, a feeding tube or a gastrostomy tube which goes directly into the stomach, bypassing the mouth and throat. Cleft palate repair (if required) will also be carried out, typically at about 12-18 months of age.

Later in childhood, the underdeveloped jaw may benefit from treatment to improve bite, chewing, speech and appearance. This is typically done with bone grafts and jaw distraction. This is a long-term treatment but has good results for the majority of children. Sometimes the cheek bones are also reconstructed using bone grafts or implants.

Ear reconstruction can also be carried out in later childhood, either creating a bigger ear from the child’s rib cartilage or from a plastic (Medpor) implant. Ear reconstruction improves the appearance of the ear but it will not improve function. Children with hearing impairment will need support in terms of hearing aids or cochlear implant as well as speech and language therapy.

As the bones continue to grow during childhood and adolescence, further surgery may be needed to make minor corrections to face shape. Final corrections are usually complete between the ages of 16 and 20 years.

Source (used with permission): https://www.gosh.nhs.uk/conditions-and-treatments/conditions-we-treat/treacher-collins-syndrome/

Cleidocranial dysplasia (CCD) is a genetic disorder that effects bone and tooth development. People with CCD commonly have supernumerary (extra) teeth, teeth which are impacted (do not grow into the mouth on their own), delayed closure of the sutures of the skull, small or absent clavicles, and short stature.

Causes

CCD is a genetic disorder, which means it is caused by changes (mutations) in gene(s). In most people, the affected gene is RUNX2, a gene which regulates bone cell development and activity. For around 30% of children with CCD, this gene mutation occurs spontaneously (ie: no other members of their family have it), while around 70% of children inherit this genetic difference from a parent. These gene mutations are autosomal dominant, which means that only one copy of the gene needs to be passed on to be affected. In practical terms, autosomal dominant inheritance means that there is a 50-50 chance of a parent with CCD having a baby that also has this condition.

Impact on child

Children with CCD typically have small or absent clavicles, increased head circumference, a wide forehead, and widely spaced eyes. Bone formation at the skull sutures is delayed, which may leave large ‘soft spots’ in the skull. Most children with CCD will have normal brain and cognitive development, but it is important to protect against the negative effects of repetitive brain trauma. Hearing loss is common in children with CCD because of structural and functional changes in the skull bones and palate.

Differences in dental development are a major component of CCD. Multiple supernumerary (extra) teeth are common, the baby teeth may not fall out normally, and the adult teeth do not grow in on their own. The upper jaw may grow less than the lower, causing an underbite. An under-developed upper jaw can also cause breathing and airway challenges, such as sleep apnea.

Treatment

Treatment for children with CCD is complex, and is best managed by an interdisciplinary team.

During infancy and early childhood, team management focuses on facilitating normal development and preventing injury. A protective helmet may be recommended during childhood to minimize the risk of traumatic brain injuries. Routine evaluation by ENT (ear, nose, and throat) surgeons and audiologists is important for identifying and treating hearing loss, if present.

Assessment with a team orthodontist by age 6 to 7 years of age is recommended. Orthodontic treatment is almost always required to bring the adult teeth into the mouth. Specific details will vary depending on the individual situation, but treatment generally involves the removal of supernumerary teeth and uncovering of unerupted teeth by an oral surgeon, followed by orthodontic treatment to move the uncovered teeth into the mouth. This treatment is commonly performed in two stages – the front teeth are treated between ages 7 and 9 years, and the back teeth between ages 9 and 11 years. Depending on growth, a jaw surgery in the late teenage years may also be necessary to correct the bite.

In some cases, it may not be possible to bring all the teeth into the mouth, or patients may decide not to have the surgical and orthodontic treatments needed to bring the teeth into the mouth. In these instances, it may be possible to restore the function and aesthetics of the teeth with dental prostheses, such as dentures or implants.

Resources

Medline Plus: Cleidocranial dysplasia

Ectodermal Dysplasia syndromes (EDS) are a group of related conditions that cause the abnormal development of some combination of teeth, hair, nails, sweat glands and parts of the eye and ear during pregnancy. More than 150 conditions have been identified and each syndrome usually involves a different combination of symptoms. EDS is diagnosed when a patient has two or more Ectodermal Dysplasia symptoms.

Causes

EDS is a genetic disorder which means it's caused by changes (mutations) in a gene(s). Genes, which are passed from parents to children, determine a person's traits, including appearance and growth. Mutated genes can be inherited from a parent, caused by environmental factors or occur randomly.

EDS is caused by mutations to genes that control the ectoderm, the cells that eventually develop into skin, hair, nails, teeth, nerve cells, sweat glands, parts of the eye and ear, and parts of some other organs during pregnancy.

Impact

Because the ectoderm plays a role in development of so many body parts, patients with EDS may have a broad variety of symptoms which range in severity. Symptoms often include:

• Missing or sparse hair growth (hypotrichosis)
• Missing or malformed of teeth (hypodontia)
• Inability to sweat (hypohidrosis), which causes overheating (hyperthermia)
• Weakened or loss of hearing or vision
• Missing or malformed fingers or toes
• Cleft lip and/or palate
• Irregular skin colour
• Challenges breathing

Treatment

Many of the symptoms of EDS can be treated. Our team works with our patients and their families to develop a treatment plan that addresses each patient's specific needs.

It is common for patients with EDS and EEC (Ectodermal-Ectrodactyly Clefting syndrome) to undergo significant dental treatment, including orthodontic, oral surgery and prosthetic services.

To learn more, please read about the Orthodontic Program for Children with Cleft Lip and Palate & Syndromic Craniofacial Anomalies and the Dental Program for Ectodermal-Ectrodactyly Clefting Syndrome

Resources

• Dental care for children with ectodermal-ectrodactyly clefting and ectodermal dysplasia syndromes (PDF)
• Canadian Ectodermal Dysplasia Syndromes Association (CEDSA)
• Medline Plus (US National Library of Medicine): EDS
• US National Foundation for Ectodermal Dysplasias

Orthodontic treatment is an important part of the treatment journey for patients with clefts of the lip and/or palate. Most children with clefts will have between one and three stages of orthodontic treatment, depending on their individual needs.

For most patients with clefts, orthodontic treatment costs are covered by the Medical Services Plan. In order for your treatment to be covered, it is necessary to see a Certified Specialist in Orthodontics (ie: treatment provided by a general dentist is not eligible for coverage). Your orthodontist must submit an application to MSP to confirm that you are eligible for coverage.

Pre-Surgical Infant Orthopedics

Infants born with cleft lip (with or without cleft palate) may benefit from pre-surgical infant orthopedics (PSIO) before their lip repair. PSIO refers to a range of techniques which use tapes, elastics, and special retainers or nasal stents to shape the nose, lips, and gums during the first 3 to 5 months after birth. PSIO can reduce the complexity of the lip repair surgery, leading to improved symmetry and a reduced need for ‘touch up’ surgery in the future.

If your baby would benefit from PSIO, our team coordinator or your plastic surgeon will connect you with one of our team orthodontists who provide this treatment.

Orthodontic Assessment and Treatment During Childhood

We recommend that children with clefts have their first assessment with an orthodontist by age 5 to 6 years. This is particularly important for children whose clefts involve the gums (also called the ‘alveolus’), as it is important to determine what adult teeth are present in the area of the cleft, and whether there is enough bone present to support them once they grow into the mouth. At this initial assessment, your orthodontist will likely take one or two x-rays of the cleft site to assess this.

If these x-rays show that there is not enough bone to support the developing teeth, an alveolar bone graft will be needed. This surgical procedure involves placing bone (usually from the hip), or a bone substitute into the cleft alveolus. The grafted bone is gradually remodelled, and becomes continuous with the surrounding bone, allowing teeth to erupt into healthy supporting bone and gum tissue. Depending on what teeth are present, and how quickly they are developing, bone grafting usually occurs between 5 and 9 years of age.

Orthodontic treatment may be recommended during this period. Common treatments include jaw expanders to widen and correct the shape of the upper jaw, and partial braces to align crooked and crowded teeth. Children with a mild underbite (the bottom teeth sit in front of the upper teeth when biting) may benefit from growth modifying treatment such as headgear, though due to underlying growth differences, this treatment has limited long-term success for children with clefts.

Orthodontic Treatment During Adolescence and Young Adulthood

Orthodontic treatment during the teenage years is a common rite of passage for both children with clefts and their non-cleft peers. The timing and type of orthodontic treatment will vary, and is influenced significantly by individual jaw growth.

Teenagers with clefts who have relatively balanced growth between the upper and lower jaw can receive orthodontic treatment during the teenage years, using familiar orthodontic tools such as braces, clear aligners and elastics. This is usually the final step in the orthodontic journey for these patients. However, those with imbalanced growth between the upper and lower jaw should delay their orthodontic treatment until jaw growth is completed in young adulthood. If orthodontic treatment is finished while the jaws are still growing, the imbalanced growth may cause an improper bite to return, meaning the orthodontic treatment may need to be repeated.

For young adults with a significant imbalance in the upper and lower jaw length or position, jaw surgery may be recommended in combination with orthodontic treatment. Between 10% and 50% of children with clefts benefit from jaw surgery during young adulthood, depending on the size and type of cleft.

After orthodontic treatment is completed, retainers are provided to maintain the correction, and plans are made for any additional dental procedures required, such as the replacement of missing teeth. Diligent retainer wear is extremely important for patients with clefts, especially those with cleft palate, as residual differences in the structure of the upper jaw greatly increase the risk of relapse (ie: a return to the pre-treatment bite and tooth position).

Resources

• Orthodontic appliance for newborns with cleft lip and cleft palate (PDF)
• Orthodontic program for children with cleft lip and palate and syndromic craniofacial anomalies (PDF)
• BCCOHP: Registrant Lookup
  • To search for Certified Specialists in Orthodontics, click ‘More Search Options’ and select ‘Orthodontics and Dentofacial Orthopedics’ under Dentist Type
• Guide for feeding your baby with cleft lip and/or palate (PDF)
• Nostril splinting before surgery for newborns with cleft lip nasal deformity (PDF)
• Orthodontic appliance for newborns with cleft lip and cleft palate (PDF)
• Alveolar bone graft (PDF)

For patients with non-cleft craniofacial conditions, orthodontic treatment costs may be covered by the Medical Services Plan. There are certain criteria related to your diagnosis and treatment needs which are used by MSP to determine if the costs of your orthodontic treatment are covered.

Additionally, in order to be eligible for coverage, it is necessary to see a Certified Specialist in Orthodontics (ie: treatment provided by a general dentist is not eligible for coverage). Your orthodontist must submit an application to MSP to confirm that you are eligible for coverage.

Resources

• Orthodontic appliance for newborns with cleft lip and cleft palate (PDF)
• Orthodontic program for children with cleft lip and palate and syndromic craniofacial anomalies (PDF)
• BCCOHP: Registrant Lookup
  • To search for Certified Specialists in Orthodontics, click ‘More Search Options’ and select ‘Orthodontics and Dentofacial Orthopedics’ under Dentist Type

Microtia is a small or abnormally formed ear. It comes from the words “micro” (small) and “otia” (ear). Microtia may affect one side only (unilateral) or affect both ears (bilateral). Eighty per cent of the time it is unilateral. Some people may have microtia as part of a syndrome known as craniofacial (or hemifacial) microsomia. In this condition, there may also be a small jaw or cheek, or weakness of some of the facial muscles on the affected side. Treacher Collins syndrome, in which the eyes and facial bones are affected, is also another condition that may be associated with microtia.

Microtia occurs in about one in 6,000 births. The chance of an affected parent passing this difference to their children is usually small (less than six percent), but there are some families who carry a gene for microtia.

Causes

Microtia occurs when there is a difference with the development of the ear in the embryo. The deformity is thought to be due to an abnormality of the blood vessel supplying the area around the ear in the embryo. This is still uncertain and nobody knows what causes this to happen. Occasionally, it is due to an inherited gene difference but most of the time it is a one-off condition that the child with microtia will not pass on to their own children.

There is no evidence that anything a parent does or does not do during pregnancy causes microtia.

Impact on child

In some cases of microtia, the hearing may be normal or partly reduced and not require any treatment. Patients with microtia may not have an external ear canal but this does not necessarily mean that they cannot hear on that side as the inner ear may be normal. In others, there may be differences in the formation of the middle ear which can affect hearing.

Children with unilateral microtia, with absence of the ear canal on that side, will often struggle to identify which direction a sound is coming from.

Your child will need to have audiograms to test their hearing and also may benefit from a CT scan to look at the small bones in the middle ear to determine whether or not hearing can be improved in the ear.

Treatment

To create a new ear, the choices are to use tissue from the patient’s own body (autogenous reconstruction) or synthetic materials (alloplastic reconstruction).

Autogenous reconstruction involves making a new ear from the patient’s rib cartilage which is then placed under the skin on the side of the scalp where the ear should have been. In some cases, a second operation is done to lift the ear out from the side of the head and create the groove behind the ear with a skin graft.

An alloplastic reconstruction can involve either a plastic clip-on ear (osseointegrated prosthesis) which attaches to surgically placed studs in the bone on the side of the head, or the use of a material called Medpor (porous polyethylene) which is placed under the skin in a similar manner to the rib cartilage in an autogenous reconstruction.

Sometimes your child may benefit from surgery to adjust the bigger ear (such as by pinning it back) to more closely match the reconstructed ear.

Ear reconstruction can be performed any time from around the age of six years but is often deferred until the child requests surgery (eight to 10 years of age). At this time, the rib cartilage is also large enough and strong enough to be carved properly into an ear. Some children are not concerned about their little ear and never request a reconstruction so it is important that your child is involved in any decision for surgery.

Source (used with permission): https://www.rch.org.au/plastic/operative-considerations/Complex_ear_problems_and_Microtia/