Acrocephalosyndactyly -- the coalesced hand.

Abstract

Described nearly a century ago, Apert's Syndrome (A.S.) is a rare disorder affecting 1/80,000 children, the mode of inheritance is autosomal dominant or sporadic. Apart from the more obvious skull malformations, extensive and complex hand deformities create several problems for the child's interaction with its environment, preventing normal intellectual development and generating psychological problems as severe as those caused by the craniofacial abnormalities. The deformities seen here are some of the most complex of all congenital hand malformations. Between January 1987 and January 1999, 71 children presenting with hand syndactyly were treated at the Hospital de Dona Estefania (H.D.E.), a total of 177 syndactylies. Of those, 51 had no associated illnesses, 14 had other conditions and six had A.S. All six cases were sporadic; one child had a cleft palate and another suffered from epilepsy. The timing at which the various surgeries were performed was diverse, however, there has been a recent trend towards earlier interventions in order to obtain a functional hand before the age of two. Aesthetic results vary a lot depending on the complexity of the lesions and we sometimes accept a three or four-digit, but functional hand. We achieved hands with a function of 40 to 65 % in all our patients before school age. Due to A.S.' rarity, an effective use of resources and good results can only be obtained in a specialised centre with a multidisciplinary team.