Craniofacial Clinic

At Children’s Hospital & Medical Center’s Craniofacial Clinic, we don’t simply change your child’s look.

We change their lives.

What Sets Children’s Apart?

Our Craniofacial Clinic is the only clinic in the region that includes a multidisciplinary team of surgeons and specialists dedicated to diagnosing and treating complex craniofacial anomalies.

Our multidisciplinary approach allows for a comprehensive and individualized plan that fits the special needs of your child. Our team works together to restore normal facial features, minimize any functional problems, and enhance the quality of young lives. We utilize techniques and technologies not available anywhere else in the region. And our efforts are supported by a Level IV Regional Newborn Intensive Care Unit (NICU) that offer the most advanced level of neonatal care available.

Our multidisciplinary team includes:

  • A craniofacial surgeon
  • A pediatric neurosurgeon
  • An oral and maxillofacial surgeon
  • A genetics specialist
  • A pediatrician
  • An orthodontist
  • An oral and maxillofacial prosthodontist

Our clinic has been approved by the Commission on Approval of Teams as having met the Standards for Approval of Cleft Palate and Craniofacial Teams. ACPA approved teams have “demonstrated a commitment to optimizing team care for patients by providing coordinated and consistent care within the framework of the patient’s overall developmental, medical and psychological needs.”

Referral is made to our clinic by primary care doctors — but parents can also self-refer.

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Make An Appointment

Phone 402-955-4168 | Fax 402-955-4184

Conditions We Treat

Craniofacial disorders refer to a group of deformities of the face and head caused by abnormal growth of the skull and facial bones. These deformities are congenital, or present at birth. Some cases are associated with genetics, but in many cases, the exact cause is unknown. A craniofacial condition may also involve disfigurement caused by disease or trauma.

Your child will be carefully evaluated during the first few weeks of life to determine a long-term care plan. Some craniofacial deformities are mild and may require minimal treatment. Others may require multiple surgeries over your child’s early years and into the teens.

  • Cleft Lip and Cleft Palate

    Cleft lip and cleft palate is the fourth most common type of birth defect in the United States. It occurs when there is not enough tissue in the mouth or palate and the available tissues don’t fuse together normally during early fetal development.

    Symptoms

    Cleft lip

    • Characterized by a narrow opening or gap in the skin of the upper lip that reaches to the base of the nose, often extending to include the upper jaw and/or upper gum
    • Can also appear as a bilateral cleft lip, which involves two wide gaps in the upper lip and a collapsed and stretched nose (though this is much less common)
    • The majority of cleft lips occur with a cleft palate

    Cleft palate

    • A split or opening in the roof of the mouth and the nasal cavity that can involve the front of the palate or both the front and back
    • Can only be seen when the baby’s mouth is open

    Cleft lip and palate

    • Can occur on one or both sides of the mouth
    • Some babies will have both a cleft lip and cleft palate — or just one or the other

    Causes

    In the majority of cases, the cause of cleft lip and cleft palate is unknown. Experts believe they occur as a result of a combination of genetic and environmental factors. In some cases, cleft lip and palate have a genetic component, however, a gene has not been identified. More than 40% of cleft palates are associated with malformation syndromes such as van der Woude syndrome for cleft lip and velocardiofacial syndrome for cleft palate.

    Approximately 60% of cleft lips and palates are not linked to incidents or lifestyle during pregnancy, except in a few exceptions:

    • Exposure to the drug phenytoin (Dilantin) during pregnancy increases the incidence of cleft lip by ten-fold
    • Smoking while pregnant doubles the rate of cleft lip
    • Alcohol, anticonvulsants, and retinoic acid (vitamin A) are associated with other birth malformations that include cleft lip and palate

    You are at greater risk of having a child with clefting if:

    • One of the parents has clefting
    • The parents have already had one child with clefting
    • A parent and child in your family have clefting
    • A parent or other child has both a cleft lip and palate

    Treatment

    Our craniofacial surgery team will work closely with you and your child to develop a plan that requires the least interventions and provides the best results for your child. Although treatment for a cleft lip and/or cleft palate may extend over several years and require several surgeries (depending upon the severity of the condition), most children affected can achieve normal appearance, speech and eating abilities.

    Cleft lip

    • Repair of a cleft lip may need one or two surgeries depending on the extent of the malformation.
    • The first surgery is usually performed when your baby is about 3 months old.
    • This surgery involves moving the skin, muscle, and lining in the proper place. The nose may also be shaped to improve its form.

    Cleft palate

    • The initial surgery usually occurs when your baby is between 9 and 12 months old.
    • This first surgery creates a functional palate, which reduces the chances that fluid will develop in the middle ears, and allows for the proper development of speech.
    • Your child may also need a bone graft at about 8 years old to fill in the upper gum line so that it can support permanent teeth and stabilize the upper jaw.
    • Further surgeries to help improve speech are required by about 20% of children with a cleft palate. Braces may also be needed to straighten the teeth.
    • Additional surgeries to improve the appearance of the lip and nose, close openings between the mouth and nose, help breathing, and stabilize and realign the jaw may also be performed.

    The following outlines a general care and treatment plan, but is not all-inclusive, nor applicable to every child:

    Prenatal

    • Evaluation by our craniofacial team completed
    • Diagnosis and genetic counseling provided
    • Psychosocial issues addressed
    • Feeding instructions and plan developed

    Birth to 1 month

    • Evaluation by our craniofacial team completed
    • Diagnosis and genetic counseling provided
    • Psychosocial issues addressed
    • Feeding instructions provided
    • Growth monitored

    1 to 4 months

    • Feeding and growth monitored
    • Cleft lip repaired
    • Ears and hearing checked

    5 to 15 months

    • Feeding, growth, and development checked
    • Ears and hearing checked — ear tubes may be required
    • Cleft palate repaired
    • Oral hygiene instructions provided

    16 to 24 months

    • Ears and hearing assessed
    • Speech and language evaluated
    • Development assessed

    2 to 5 years

    • Speech and language assessed, velopharyngeal insufficiency (inability to close the space between the nasal cavity and mouth) managed
    • Ears and hearing checked
    • Lip and nose revision may be considered
    • Development and psychosocial adjustment evaluated

    6 to 11 years

    • Orthodontic interventions performed
    • Speech and language assessed, velopharyngeal insufficiency managed
    • Alveolar bone graft done
    • School/psychosocial adjustment assessed

    12 to 21 years

    • Jaw surgery and rhinoplasty performed, if needed
    • Orthodontic bridges and implants provided, if needed
    • Genetic counseling provided
    • School/psychosocial development assessed
  • Craniofacial Microsomia

    Craniofacial microsomia is a congenital disorder that causes underdevelopment of one side of the face or the lower half of the face, typically the ear and jaw. In a small percentage of cases, both sides of the face are affected. Eyes, cheeks, and neck may also be affected.

    It is the second most common facial birth defect after clefts, occurring in one in 3,500 to 4,500 infants.

    This condition has many other names, including:

    • Hemifacial microsomia
    • First and second branchial arch syndrome
    • Otomandibular dysostosis
    • Oculo-auriculo-vertebral sequence
    • Facio-auriculo vertebral syndrome
    • Goldenhar syndrome
    • Lateral facial dysplasia

    Symptoms

    • Associated with underdevelopment of parts of the face
      • Some babies will have a slightly smaller jaw with a tiny raised piece of skin (skin tag) in front of the ear
      • Common for babies to have just one side of the face that is small and underdeveloped
      • Ear may be abnormally shaped or missing entirely
    • Aside from the deformities, most babies with this condition do not have other medical problems

    Common features include:

    • Small ear
    • No ear canal
    • Facial tags
    • Other ear deformities
    • Facial palsy
    • Small cheekbone
    • Epibulbar dermoid (pinkish-white growth on the eye)
    • Wide mouth
    • Cleft lip and palate
    • Small opening of the mouth
    • Small lower jaw
    • Crooked lower jaw

    Causes

    This condition develops in the fetus during the first 3 months of pregnancy. While the cause is uncertain, craniofacial microsomia appears to occur due to poor blood supply to the face, which restricts development to this area.

    In most cases, it is not inherited. However, a couple who has had a child with craniofacial microsomia carries a 3% risk of having another child with this condition.

    Treatment

    Our craniofacial team will determine the proper treatments and timing of the treatments to provide the best results for your child. Treatment factors include how severely your child has been affected and your child’s age.

    Ears

    Surgery to correct the shape of your child’s ears is usually recommended between 6 and 8 years of age. By this time, your child’s ears have almost reached their adult size.

    A variety of different techniques are available, and you’ll discuss options with our craniofacial surgeon to choose the best method for your child.

    Face

    In cases where the cheekbones are underdeveloped, a grafting procedure may be required. Autologous tissue (your child’s own tissue) or alloplastic (synthetic) implants may be used depending on the situation. The timing of facial grafting depends on many factors and is usually performed at around 10 years of age.

    Feeding & Breathing

    In severe cases, a small jaw or a cleft palate associated with craniofacial microsomia may cause difficulty breathing as well as feeding issues as an infant.

    Breathing problems may be resolved with positioning devices, tubes, and jaw advancement procedures. In some cases, it may be necessary to place a breathing tube known as a tracheostomy in the windpipe.

    Hearing

    We recommend a hearing screening within the first few days of birth. If hearing is impaired, our ear, nose, and throat specialist and audiologist will discuss how to minimize hearing impairment and prevent further hearing loss.

    Jaw & Teeth

    If your child has a small lower jaw, a procedure called distraction osteogenesis may be recommended. This surgery involves making a break on both sides of the lower jaw – and then placing a small metal device under the skin and across the breaks, also called the osteotomy.

    The device is used to slowly and gradually open the osteotomy gap and move the jaw forward. As the jaw moves forward, the tongue also moves forward, which opens your baby’s airway.

    Your child also may have missing teeth. If this is the case, we may recommend that a dentist or orthodontist evaluate your child’s teeth and upper and lower jaw to determine how well the jaw fits together.

  • Craniofacial Tumors and Trauma

    The craniofacial team at Children’s Hospital & Medical Center, which includes our experienced team of craniofacial and maxillofacial surgeons, provides evaluation and treatment of children with deformities of the face and skull resulting from birth defects, tumors, and trauma.
  • Hemangioma

    Hemangioma are strawberry colored lesions that vary in size and number. They are not true birthmarks as most appear in infancy and then begin to grow.

    During the first 6 months of life, 5 to 10% of hemangiomas ulcerate (become a sore) during their rapid growth phase, are painful, may bleed, and are at risk for bacterial infection.

    Treatment

    Hemangioma treatment includes daily wound care, topical antibiotics, and local or systemic steroids. The hemangioma’s growth will be monitored over a period of weeks, months, or years.

    The majority of these skin lesions will gradually disappear by the time your child reaches 7 years of age.

    Laser treatment may be considered in cases in which the hemangioma ulcerates, does not appear to be regressing, or if the lesion progresses toward disfigurement. Laser treatment can expedite healing and reduce pain within a few days, often after a single treatment. Lesions generally heal in 1 to 5 weeks after treatment.

    If hemangiomas are in problematic areas (such as around the eyes) or in a cosmetically sensitive area, your child’s surgeon may recommend surgical excision to address the issue.

  • Pierre Robin Sequence

    Pierre Robin sequence is a group of birth defects that appear together. These include a small lower jaw (micrognathia) and an abnormal tongue that falls back toward the throat (glossoptosis), causing breathing problems. It is often associated with cleft palate.

    It is referred to as a “sequence” because it is believed that these deformities occur as a series of events that affect each other beginning with the lower jaw. As the embryo grows, this defect leads to problems with the tongue, which causes clefting of the palate.

    This condition is also known as:

    • Robin Anomalad
    • Pierre Robin complex
    • Pierre Robin syndrome.

    Symptoms

    Children born with Pierre Robin sequence have the following deformities:

    • A small lower jaw (micrognathia)
    • A tongue which falls back toward the back of the throat (glossoptosis)
    • Breathing problems
    • U-shaped cleft palate

    In addition to these physical symptoms, your child may also experience:

    • Feeding problems
    • Ear infections
    • Impaired hearing

    About 40% of infants with Pierre Robin have Stickler syndrome, a tissue disorder that is associated with:

    • Cleft palate
    • Cataracts and/or retinal detachment at an early age
    • A flat face
    • A small jaw
    • Skeletal abnormalities

    About 15% have velocardiofacial syndrome, also known as VCFS or DiGeorge syndrome, which is commonly associated with cleft palate.

    Your doctor may recommend genetic testing to determine if your infant has either of these associated syndromes.

    Causes

    While the cause is unknown, many medical experts believe it occurs due to the positioning of the fetus in the early weeks of pregnancy. There does not appear to be a clear genetic link. Your risk of having another child with Pierre Robin sequence is very small unless it is related to a syndrome.

    Treatment

    Treatment for children with Pierre Robin sequence focuses on resolving breathing and feeding problems. This is followed by surgery to repair the cleft palate and treatment to prevent impaired hearing.

    Breathing Problems

    During the first few months of life, our priority is keeping your infant’s airways open. In many cases, it is necessary to keep your infant on their stomach to prevent the tongue from blocking the upper airway.

    If your infant continues to have problems, we may recommend other methods to keep the airway open, including a nasopharyngeal airway, also called a nasal trumpet. This involves placing a small tube through the nose into the upper airway.

    If this is not effective, your doctor may recommend enlarging the lower jaw in a procedure called distraction osteogenesis. In severe cases, it may be necessary to perform a tracheotomy in which a breathing tube is placed in the windpipe to allow breathing.

    Feeding Problems

    Once your child’s breathing problems have been resolved, feeding also becomes easier. If feeding is still a problem for your child, they may need to be fed through a tube, which is placed from the nose to the stomach for the first few months of life.

    Other problems that may develop due to breathing and feeding problems include gastric reflux and aspiration of liquid into the windpipe. These problems can be treated with medicine and dietary changes.

    Cleft Palate & Hearing Problems

    When your child reaches 9 to 12 months of age, their doctor will likely recommend surgery to repair the cleft palate.

    Many children with cleft palate experience fluid buildup behind the eardrum, which can impair hearing. If this is the case, your child may need tympanostomy tubes, which are small plastic tubes inserted into the eardrums to improve hearing. Our ear, nose, and throat specialist and hearing specialist will monitor your child’s condition to ensure they are hearing normally.

    Neonatal Mandible Distraction Osteogenesis

    In some severe cases, infants with Pierre Robin sequence will benefit from early jaw surgery (mandible distraction osteogenesis) to avoid a tracheotomy. This is recommended when your child’s breathing cannot be improved through more traditional methods.

    The surgery involves making a break on both sides of the lower jaw and then placing a small metal distraction device under the skin and across the breaks, also called the osteotomy. The device is used to slowly and gradually open the osteotomy gap and move the jaw forward. As the jaw moves forward, the tongue also moves forward, which open’s your baby’s airway. Once the jaw has moved to the correct position, a second surgery is performed to remove the metal device.

    Our craniofacial experts will carefully evaluate and monitor your infant to determine the most appropriate and effective treatments.

  • Syndromic Craniosynostosis

    Syndromic Craniosynostosis is an umbrella term for a group of conditions in which the fibrous sutures in an infant’s skull close too early. This causes problems with normal brain and skull growth. It may also cause the pressure inside of the head to increase and the skull or facial bones to change from a normal, symmetrical appearance, resulting in an abnormal head shape and facial features.

    There are more than 150 syndromes associated with craniosynostosis. About 20% of cases are associated with syndromes such as Crouzon and Apert syndrome.

    These syndromes can sometimes be traced to a family history, although many are caused by new genetic mutations in which there is no associated family history. If necessary, genetic testing is available to confirm the diagnosis of a specific syndrome.

    Common craniosynostosis syndromes include:

    Apert Syndrome

    Apert syndrome is a rare genetic condition, apparent at birth, caused when the seams or sutures between the skull bone close earlier than normal, affecting the shape of the head and face. It can also affect your child’s limbs.

    Because the condition is so rare (estimated to occur in one of 45,000 to 160,000 live births), care requires very specialized treatment by a team of craniofacial specialists.

    Symptoms

    Symptoms of Apert syndrome usually become apparent at an early age. Babies with Apert syndrome tend to have an abnormally-shaped skull that is pointed at the top. The distortion of the skull also can cause:

    • Widely-spaced eyes
    • Abnormal protrusion of the eyes
    • Underdevelopment of facial features in the middle region of the face
    • Narrow roof of the mouth

    The upper two-thirds of the face tend to be flat, and in many cases, the middle of the face from the eyes to the upper jaw tends to be sunken or concave.

    If the condition affects the hands and feet, it can cause a variety of effects that range in severity, including:

    • Fusing of the thumb within the second to the fourth fingers
    • Hands that look like paddles or mittens
    • Webbed toes or fingers with several of the fingers fused together

    Causes

    Apert syndrome may be caused by a random mutation of the fibroblast growth factor receptor 2 (FGFR2) gene.

    It may also be caused by an inherited autosomal dominant condition, meaning only one parent needs to have an abnormal gene to increase the risk of your child inheriting the disease. The child of a parent with Apert syndrome has a 50% chance of passing the mutation on to their own children.

    Treatment

    Apert syndrome is a very complex condition that requires a coordinated approach to treatment. Some children will undergo as many as 20 surgeries by the time they are young adults.

    Skull & Face

    The first major craniofacial surgery usually involves cranial vault remodeling and orbital rim advancement that is performed between 6 and 12 months of age. This procedure reforms the shape of the skull to allow the brain additional room to grow. If there are signs of increased pressure on the brain, the procedure may be performed sooner.

    During the late childhood or teen years, surgery focuses on filling out the mid face in a procedure called a LeFort III or monobloc osteotomy. This is normally performed after the face is nearly finished growing. Waiting to perform this procedure in late childhood or adolescence reduces the likelihood that the surgery will need to be repeated. However, if your child is suffering problems like severe obstructive sleep apnea, the surgery may need to be performed sooner.

    After your child is done growing, additional craniofacial procedures will likely be required. These include a procedure called LeFort I osteotomy to correctly position the upper teeth in line with the lower teeth. The lower jaw may also need to be aligned to correct an underbite and anterior open bite.

    Hands & Feet

    If Apert syndrome affects your child’s hands, surgery will be required in the first year of life. If there is fusing of the thumbs, surgery will be performed at about 6 months of age to aid proper hand function and development. Multiple procedures will be required to separate the fingers on each hand. This is usually completed by 2 years of age but sometimes may be completed later.

    Surgery on the feet is usually performed in only severe cases. For instance, surgery may be needed if the fusing of the toes causes malformation of the feet that affects your child’s ability to walk normally.

    Crouzon Syndrome

    Crouzon syndrome is a rare genetic disorder that is characterized by the premature fusion between certain bones of the skull and face. This early fusion prevents the bones from growing normally, affecting the shape of the head, the appearance of the face, and the relationship of the teeth. Unlike many other craniosynostosis syndromes, Crouzon syndrome does not involve abnormalities of the hands and feet. However, Crouzon can include spine abnormalities.

    Crouzon syndrome is estimated to occur in 1.6 per 100,000 children.

    Symptoms

    Abnormal growth of the skull and facial bones can cause:

    • Wide-set, bulging eyes
    • Vision problems caused by shallow eye sockets
    • Eyes that do not point in the same direction (strabismus)
    • Beaked nose
    • Underdeveloped upper jaw

    Your child may also experience dental problems and hearing loss, which may also be accompanied by narrow ear canals. Hearing impairment occurs in about 55% of infants. Some children are born with no ear canals at all.

    Cleft lip and palate are less common but are also possible symptoms of Crouzon syndrome.

    Possible neurological problems include an increased risk to develop excess fluid on the brain (hydrocephalus) or an abnormal growth on the back of the brain called a Chiari malformation.

    Causes

    Crouzon syndrome may be caused by a genetic or spontaneous change or mutation in one of the fibroblast growth factor receptor genes.

    The condition can also be inherited from one parent who passes the abnormal gene onto their child. There is a 50% chance that the gene will be passed along to a child.

    Treatment

    Skull

    Our craniofacial team will evaluate your child carefully to determine the best long-term treatment plan. Surgery will likely be recommended to open closed sutures to allow for expansion and reshaping of the skull. This is known as cranial vault expansion and reshaping.

    Whether your child is a candidate for this procedure will depend on the number and type of closed sutures.

    An infant with multiple-suture synostosis that causes severe skull deformities may need cranioplasty surgery in the first year of life. A small percentage of these children will require a second cranioplasty.

    Eyes

    Children with Crouzon syndrome may develop visual impairments due to the misalignment of the eyes and increased intracranial pressure. Our craniofacial team may recommend that your child see an ophthalmologist regularly to address these issues. If your child has very shallow orbits that result in partial eyelid closure and the risk of corneal irritation — known as keratitis — early midface advancement (surgically bringing the middle part of the face forward) may be necessary.

    Brain

    Children with Crouzon syndrome may require cranial surgery depending on their symptoms. This includes children with excess fluid in the brain (hydrocephalus), children with craniosynostosis, and those with a Chiari malformation.

    Breathing

    Your child’s airway may be exceptionally small if your child has a small nose combined with poor midface growth. This combination can result in sleep apnea or snoring.

    To correct these problems, our craniofacial team may recommend a midface advancement or LeFort III osteotomy to create a larger airway. This involves undergoing surgery to move the middle portion of the face forward to align the upper and lower jaw, which enlarges the airway. Our team will determine the right timing of this surgery based on your child’s symptoms, age, and the severity of the jaw misalignment.

    This surgery may need to be repeated later in life if it is first performed at an early age.

    For children with severe sleep apnea, a procedure called adenoidectomy may be an option. This procedure involves removing the adenoids or lymphoid tissue in the back of the nose.

    Pfeiffer Syndrome

    Pfeiffer syndrome is a genetic disorder associated with premature fusion of the sutures that connect certain skull bones. This premature fusion prevents the skull bone from growing normally, causing deformities of the head and face. Pfeiffer syndrome can also affect the bones in the hands and feet. It occurs in 1 in 100,000 people.

    Symptoms

    Abnormal bone growth in the skull can result in:

    • Bulging, wide-set eyes
    • High forehead
    • Underdeveloped upper jaw
    • Beaked nose

    More than half of these children will have hearing loss and some may also have poor vision and dental problems.

    If the hands and feet are affected, the thumbs and big toes may be wide and bend away from the other digits. Short fingers and toes, as well as webbing or fusion between the digits, are also common.

    Pfeiffer syndrome is categorized into three subtypes:

    • Type 1, or classic Pfeiffer syndrome, includes the symptoms described above, with normal intelligence
    • Type 2 and 3 are more severe forms of the syndrome and can involve delayed development and other neurological problems

    Causes

    Pfeiffer syndrome is believed to be caused by a sporadic gene mutation and is not related to any lack of discretion on the mother’s part. If a parent has Pfeiffer syndrome, there is a 50% chance that your children will be born with the condition.

    Treatment

    For the best results, your child should be evaluated and treated by our experienced team of craniofacial specialists. How many and what types of surgery will depend upon the severity of your child’s condition.

    Your child may need the following surgeries:

    • Frontal orbital advancement (to allow the skull to grow properly and to increase the size of the eye sockets)
    • Jaw surgery
    • Orthodontic work
    • Surgical advancement of the mid-face

    Saethre-Chotzen Syndrome

    Saethre-Chotzen syndrome is a rare genetic disorder that is closely related to Crouzon syndrome. These syndromes belong to a group of genetic disorders that are characterized by premature closure of the cranial joints or sutures between various bones of the skull.

    Symptoms

    Distinct distortions to the face and head, including:

    • A pointed head
    • Webbing or fusion of certain fingers or toes
    • An underdeveloped midface, resulting in sunken cheekbones
    • Prominent and/or wide-set eyes
    • Low-set hairline and drooping of the upper eyelids

    Other symptoms may include:

    • Vision problems
    • Hearing loss
    • Mild-to-moderate mental retardation (less common)
    • Nasal airway obstruction due to an underdeveloped midface and a high arched palate, which may also cause speech problems and a cleft palate

    Causes

    Saethre-Chotzen syndrome appears to be linked to a sporadic and rare gene alteration. Parents are usually not affected and the risk of future children being born with it is minimal. The offspring of a Saethre-Chotzen patient have a 50 to 60% chance of inheriting the syndrome due to the dominant nature of the gene.

    Treatment

    The craniofacial team at Children’s Hospital & Medical Center will develop a carefully-staged plan that involves multiple surgeries to minimize the effects of the disorder.

    During your child’s first year of life, surgery is performed to release the cranial sutures to allow for brain growth and expansion. Additional surgery may be required as indicated to allow for further brain growth later in life. Other surgeries may be required to correct the midfacial deformities, as well as jaw surgery.

    Many children will need to have eye muscle surgery performed by a pediatric ophthalmologist to correct the imbalance of the muscular structures of the eye in addition to the drooping eyelids.

  • Treacher Collins Syndrome

    Treacher Collins syndrome is a rare birth defect that affects your baby’s facial development before birth. The syndrome typically affects the size and shape of the cheekbones, jaws, ears, eyelids and muscles of the face. While children with this disorder have similar facial features, the severity of the deformities can vary.

    This condition is also known as mandibulofacial dysostosis and Franceschetti-Zwalen-Klein syndrome.

    Symptoms

    • Downward sloping eyes
    • Lack of normal cheekbones
    • Small, malformed, or missing ears
    • Hearing impairment
    • Small opening of the mouth
    • Small lower jaw
    • Steep, downward angle of the upper and lower jaws
    • Anterior open bite
    • Cleft palate

    Treacher Collins syndrome not only affects your baby’s physical appearance, but in most cases, also results in functional problems related to breathing, feeding, and hearing. Careful attention to any hearing problems will help ensure your child develops at an age-appropriate level and performs well at school.

    Certain variants of Treacher Collins syndrome can also cause deformities to other parts of the body, such as the hands and thumbs (Miller syndrome and Nager syndrome). Because of the abnormal facial features, Treacher Collins syndrome is sometimes diagnosed before your baby is born.

    Causes

    In 60% of cases, Treacher Collins syndrome is the result of a spontaneous gene mutation. In the remaining cases, it is the result of an inherited gene mutation by one of the parents.

    An adult with Treacher Collins syndrome has a 50% chance of passing the syndrome on to their children. The condition may vary in severity from generation to generation and from person to person.

    The syndrome occurs in about one in every 10,000 births.

    Treatment

    The medical team at Children’s Hospital & Medical Center will carefully develop a long-term plan to address all of your child’s needs. The types of surgery and the timing of the surgeries will depend on the severity of your child’s condition and the facial features that are affected.

    Feeding & Breathing

    Because children with Treacher Collins syndrome can have a small jaw or cleft palate, they may experience eating or breathing problems. This may affect your child’s ability to breast- and bottle-feed.

    Your doctor will monitor your child’s eating and breathing functions closely during infancy and ensure that they are gaining weight appropriately. If eating is a problem, a dietitian will work with you to develop a diet plan for your child.

    A variety of options are available to manage or rectify the problem should your child experience breathing problems. These include:

    • Positioning devices
    • Tubes
    • Jaw advancement procedures

    In rare cases, a breathing tube may be placed in the windpipe in a procedure called a tracheostomy.

    Hearing

    A hearing screening will be performed within the first few days after birth. Additional testing will be performed if problems are found. An audiologist will continue to monitor and test your child’s hearing throughout their childhood.

    Our ear, nose, and throat specialist will also educate you and your child about how to manage their hearing problems, how to prevent further hearing loss, and to determine if hearing aids are necessary.

    Ears

    If the shape of your child’s ears are bothersome, you may choose to have your child undergo surgery to correct the deformities.

    Your child’s ears will have reached their adult size by the age of 6 to 8 years old. Our team utilizes all currently available techniques of ear reconstruction, including autologous (your child’s own tissue), alloplastic (synthetic implant), and prosthetic (external, removable implant).

    Face

    Surgical repair of a cleft palate can generally begin once your child reaches 1 year of age. Your child’s surgeon may also recommend lower eyelid surgery to improve lid function and appearance if problems exist concerning eye exposure or infection.

    Correcting flat cheekbones or constructing missing cheekbones can usually be done with bone grafts. This surgery is generally performed near 10 years of age when most of your child’s midfacial growth is complete.

    Nasal surgery may be required early on if breathing problems are serious. Nasal surgery may also be recommended after your child’s nasal passages finish growing to achieve improved function and/or appearance.

    Jaw & Teeth

    If your child has many craniofacial disorders, good oral hygiene is very important.

    A dentist and/or orthodontist will evaluate your child’s dental health and the spacing of their teeth, as well as the fit of the upper and lower jaws. Your child may need braces or a dental appliance to enhance dental appearance and function.

    If your child has a small jawbone, surgery to correct the problem may be required. In most cases, your child’s doctor will recommend repairing the jawbone with a technique called distraction osteogenesis, which lengthens the jawbone. This technique does not need a bone graft, but instead uses a small metal device to slowly lengthen the bone. In severe cases, a bone graft may be required.

    Speech

    Treacher Collins Syndrome can also cause physical differences in the back of your child’s mouth. This can cause speech problems called velopharyngeal insufficiency. A speech pathologist may be recommended to address your child’s speech-related issues.

Our Treatments & Services

The multidisciplinary team at Children’s Hospital & Medical Center Craniofacial Clinic uses some of the most advanced techniques and technologies to ensure the most effective treatment for your child’s condition. Many of these procedures are not available anywhere else in the region.

Some of these innovative procedures include:

  • Bioresorbable Devices

    Bioresorbable devices may be used in many craniofacial surgery skeletal repairs and reconstructions. They can be easily contoured and fixated, resulting in newer and quicker techniques that can improve your child’s appearance. Devices dissolve in the body and leave no trace after the bone is healed. Devices are made out of polymers that are native to the body.
  • Ear Reconstruction

    Our craniofacial team offers two types of ear reconstruction. We will help you determine which method is the best choice for your child:
    • Autologous ear reconstruction involves the use of your child’s own cartilage and skin grafts to make the ear appear normal. While it can help correct an ear deformity, the procedure will not repair the hearing in the deformed ear.
    • Synthetic ear reconstruction can be performed by replacing the ear cartilage with a naturally-derived or synthetic material that allows incorporation of the implant by natural tissue in-growth.
  • Hemangioma Laser Treatments

    Hemangioma laster treatments may be considered in cases in which the hemangioma ulcerates, does not appear to be regressing, or if the lesion progresses toward disfigurement. Laser treatment can expedite healing and reduce pain within a few days, often after a single laser treatment. Lesions generally heal in 1 to 5 weeks after treatment.

    If hemangiomas are in problematic areas (around the eyes) or in a cosmetically sensitive area, your surgeon may recommend surgical excision.

  • Minimally Invasive Internal Craniofacial Distraction

    This procedure involves implanting pins into the bone, which are gradually moved apart. This allows new bone formation to occur in the gap by a process call distraction osteogenesis.
  • Nasal Alveolar Molding

    This is a procedure used to guide the growth of the mouth in the right direction prior to surgery to repair a cleft lip. It is usually performed during the first 2 weeks of a baby’s life. The entire process can last up to 6 months.

What To Expect

We look forward to caring for your child in the Craniofacial Clinic at Children’s Hospital & Medical Center, the only clinic in the region that includes a multidisciplinary team of surgeons and specialists dedicated to diagnosing and treating complex craniofacial anomalies.

During Your Initial Visit

Your child’s initial visit to our clinic will likely include a complete history and exam, including an extensive registration of symptoms.

Members of the multidisciplinary team will work together to determine the best plan of care. This care plan – and any discharge instructions – will be explained to you and your child before you leave.

If any tests – such as CT scans, MRIs or X-rays – are needed, your child’s nurse will schedule the day and time.

If the plan of care includes surgery, our schedulers will call to schedule the day and time.

Before & During Surgery

Craniofacial surgeries, like most surgeries, will require pre-op screening with lab tests and X-rays. Food and liquid intake will likely be restricted prior to the procedure.

The day of surgery often begins early with an intake evaluation by the operating room nursing team, the anesthesiology team, and the craniofacial surgical team.

Parents are allowed to be with their child until just before they go into the operating room. During the course of the operation – which can take several hours – families are updated regularly.

We believe family involvement throughout the surgical process is critical. Rest assured, every effort will be made to ensure you are fully informed about the procedure and why it’s necessary, as well as the risks and potential complications. Our team, including our child life specialist, is here to help with any needs you and your family may have while planning and waiting for surgery.

Next Steps

For Patients

Referral is made to our clinic by primary care doctors, but parents can also self-refer. Please call 402-955-4168.

For Referring Providers

The Physicians’ Priority Line is your 24-hour link to pediatric specialists at Children’s for referrals, emergency and urgent consults, physician-to-physician consults, admissions, and transport services. Call 855-850-KIDS (5437).

Learn more about referring patients.

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