Craniofacial Syndromes

Craniosynostosis may be seen with numerous syndromes that may or may not affect other parts of the body. Several of these include Apert syndrome, Crouzon syndrome, and Pfeiffer syndrome, among others. The Cleft and Craniofacial Surgery Center at Mount Sinai offers a patient-centered approach to treating children and adults with craniofacial syndromes. We are committed to the delivery of the safest and highest quality treatment options.

Apert Syndrome

Apert syndrome is a rare hereditary condition that is seen before or at the time of delivery, as it affects areas of the head, face, hands, and feet. An infant with Apert syndrome will have premature closure of skull, also known as craniosynostosis, in which the bones are abnormally fused together.

Another abnormality present in children with Apert syndrome is midface hypoplasia. Midface hypoplasia occurs when the mid-section of the face is underdeveloped and the face appears shallow. With midface hypoplasia, the bridge of the nose appears sunken and the eyes are set widely apart, often protruding from the eye sockets. Fusion of the bones of the cervical spine can also be seen in conjunction with Apert syndrome.

Crouzon Syndrome

Children born with Crouzon syndrome have similar distinctive malformations of the head and face as seen with Apert syndrome: impacts on the shape of the head, appearance of the face, and teeth. In addition, a child with Crouzon syndrome will have craniosynostosis. They also have a small midface, but this condition does not impact the hands or feet.

Pfeiffer Syndrome

Children born with Pfeiffer syndrome have distinctive malformations of the head and face. These malformations affect the shape of the head, the appearance of the face, and the relationship of the teeth. Additionally, a child with Pfeiffer syndrome will have craniosynostosis. The characteristic features of Pfeiffer syndrome that distinguishes it from the other syndromic craniosynostoses is the presence of broad, short thumbs, and big toes.

Diagnosing Craniofacial Syndromes

The diagnosis of a craniofacial syndrome may be made before birth by ultrasound or amniocentesis. At the time of delivery, examination of the infant might show anomalies of the skull and midface, as well as hands and feet, which may be a feature of a particular diagnosis. Characteristic findings include bulging of the eyes due to shallow eye sockets ("exophthalmos"); hypoplasia of the midface, causing an underbite; compressed nasal passages (often leading to a reduced airflow through nose breathing); hearing loss; sleep apnea; and vertebral malformations (curvature or subluxation of the spine and fusion of the skin and/or bones of the fingers). With Pfeiffer syndrome, the thumbs and big toes will be broad and short.

Subsequent confirmation of the diagnosis may be made by genetic testing. Further studies might include ultrasonography, plain radiography, and/or CT scanning.

Treating Craniofacial Syndromes

Early surgical intervention is recommended to address abnormalities. This may be early or late in infancy, depending on the presence and severity of the symptoms. Many specialists at Mount Sinai are usually involved in the care for children with craniofacial anomalies.

Cranial vault reconstruction is the treatment of choice for clinically significant synostosis involving one or more cranial sutures. Cranial vault reconstruction is performed shortly after birth to alleviate increased intracranial pressure. The surgical procedure involves removal, reshaping, and replacement of the bones. This may be done in one or multiple steps, if several parts of the skull are involved. For example, the posterior (back) part may be addressed first, followed by the anterior (frontal) part. The surgery takes several hours, and children are admitted on the day of surgery and stay several nights afterwards. After discharge, they are seen in the office a week later for follow-up.

For children with fusion of the fingers or toes, as seen with Apert syndrome, separation of the digits will help improve the appearance and function. The surgery takes a couple of hours and children are discharged home on the day of surgery with follow-up in the office a week later.

Surgical correction of midface hypoplasia is recommended later in childhood and involves repositioning the bones of the midface. Similar to cranial vault reconstruction, the surgery can take several hours. Patients are admitted into the hospital on the day of surgery and stay several nights afterwards. After leaving the hospital, the patient will return they are seen in the office a week later for follow-up.

The exophthalmos due to shallow nature of the orbits is treated by midface advancement later in childhood, which involves similar reconstruction of the bones around the orbits and upper jaw by advancing them forward.

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