Apert's syndrome is a congenital disorder causing deformity of the skull, face, hands, and feet. It affects 1/80,000 children. An autosomal dominant mode of inheritance exists, but the majority of new cases are sporadic. Early fusion of the cranial and facial suture lines (craniofacial synostosis) results in a variety of skull and facial deformities. The primary deformity of the hands and feet is severe syndactyly, often with fusion of the digits. The index, middle, and ring fingers are affected most often. Cognitive function may be normal or moderately disabled.
Rebelo et al reviews the hand deformities of 170 patients with Apert's syndrome and their clinical outcomes following surgical treatment.
Al-Qattan et al review the complex syndactyly of the hand associated with Apert's syndrome and suggests a new classification scheme.
Illustrations A-C are further examples of the face, hand, and foot deformities associated with Apert's syndrome
Rebelo N, Duarte R, Costa MJ, Leal MJ. Acrocephalosyndactyly -- the coalesced hand. Eur J Pediatr Surg. 2002 Feb;12(1):49-55.
PMID:11967760 (Link to Abstract)
Al-Qattan MM, Al-Husain MA. Classification of hand anomalies in Apert’s syndrome. J Hand Surg Br. 1996 Apr;21(2):266-8.
PMID:8732416 (Link to Abstract)