Apert syndrome is a genetic disease affecting the shape of the head and face that also includes anomalies of the limbs and hands.
Conditions We Treat
We treat a wide variety of craniofacial conditions, including tumors, both common and rare craniofacial clefts, craniosynostosis (both isolated and as part of a syndrome), and other syndromes and disorders that have associated craniofacial malformations.
We also specialize in treating facial anomalies related to:
- Overgrowth syndromes such as Beckwith-Wiedemann syndrome and hemihyperplasia
- Atrophic conditions such as Binder syndrome, complex cutis aplasia, fat atrophy, linear scleroderma and Parry-Romberg syndrome
- Craniofacial tumors such as dermoid cysts, encephalocele, fibrous dysplasia and neurofibromatosis
Learn more about these conditions:
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Beckwith-Wiedemann syndrome (BWS) is a rare genetic disorder characterized by overgrowth. The syndrome occurs in 1 in 14,000 births affecting boys and girls equally.
Binder syndrome is a rare congenital disease affecting the face, characterized by a flat, underdeveloped midface and flattened nose.
Complex cutis aplasia is a rare disorder characterized by the absence of a portion of the skin on the scalp. Learn about how this condition is treated at CHOP.
Craniosynostosis is a condition in which the growth seams in an infant’s skull close too early, causing problems with normal brain and skull growth.
Crouzon syndrome is a genetic condition in which the seams of the skull fuse in abnormal ways and affect the shape of the head and face.
A dermoid cyst is a pocket under the skin that fills with dead skin cells and forms a lump. Treatment typically includes surgery to remove the cyst.
An encephalocele is a neural tube defect that occurs when the tube that connects the brain and the spinal cord does not close completely during pregnancy.