Apert Syndrome

Definition: Condition that is characterized by malformation of the skull, face, hands, and feet

Etiology: Autosomal Dominant (mutation of the FGFR2 - fibroblast growth factor receptor 2 gene) or spontaneous mutation with increased paternal age

Frequency: Rare

Clinical features:

- Skull: Craniosynostosis (one or more of the fibrous sutures in an infant skull prematurely fuses by ossification, thereby changing the growth pattern of the skull)

o “Tower skull” or “cloverleaf skull”

- Eye: Ocular proptosis, hypertelorism, downward slanting lateral palpebral fissures, visual loss

- Face: Hypoplastic midface, relative mandibular prognathism, reduced size of nasopharynx and narrowing of the posterior choanae can lead to respiratory distress and have child become mouth breather, contributing to “open mouth” appearance, parrot nose, sleep apnea may develop, middle ear infections are common – conductive hearing loss

- Hands and Feet: Syndactyly of the hands and feet of the second, third, and fourth digits (distinguishing feature compared to other craniosynostosis syndromes)

- Mental Retardation

- Dental: trapezoid-shaped appearance of the lips (resulting from mouth-breathing and midface hypoplasia), may have bifid uvula, 30% have cleft of soft palate, V-shaped maxilla and crowded dentition, class III occlusion, anterior open bite, anterior and posterior crossbite, swellings along lateral hard palate from accumulation of glycosaminoglycans – pseudocleft of hard palate, gingival thickening with delayed eruption of teeth, may have shovel-shaped incisors, supernumerary teeth

Other Craniosynostosis Syndromes:

- Crouzon syndrome

- Pfeiffer syndrome

- Carpenter syndrome

Treatment:

- Craniosynostosis -> craniectomy during the first year of life

- Proptosis and midface hypoplasia -> frontofacial advancement and midface advancement

- Unerupted teeth and malocclusion -> orthodontics

- Fused digits -> surgery