Summary
Acrofacial dysostoses (AFD) are a heterogenous group of disorders combining defects of limb and mandibular/facial development. Mandibulofacial dysostosis is of varying severity, depending on the type of AFD. Acrofacial dysostosis, palagonia type is a very rare condition of mild severity characterized by shortness of stature, normal IQ and mild acrofacial dysostosis (malar hypoplasia, micrognathia and webbing of digits with shortening of the fourth metacarpals) associated with oligodontia or supernumerary teeth, mild vertebral anomalies, scalp or hair defects (aplasia cutis congenita and pili torti), and cleft lip. This syndrome shares some similarities with a rare syndromic dysplasia (Richieri-costa ectodermal dysplasia), the latter showing no sign of acrofacial dysostosis. The most likely mode of transmission of acrofacial dysostosis is autosomal dominant, although X-linked dominant inheritance cannot be excluded. Treatment is based on facial and oral surgery if necessary. *Author: Orphanet (February 2005)*.
