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. AFD catania type is a disorder of extremely rare occurrence (less than ten cases worldwide) with mild phenotype. Features include mild intrauterine growth retardation and postnatal short stature, microcephaly, mild intellectual deficit, widow's peak, moderate mandibulofacial dysostosis (including dental anomalies and/or malpositioning, microretrognathia, and malar hypoplasia) short hands with generalized brachydactyly, simian creases, mild interdigital webbing and clinodactyly. Minor malformative features may also be associated with this syndrome (preauricular fistulae, cryptorchidism, hypospadias, inguinal hernia, and spina bifida occulta of the first cervical vertebra, C1). Severely carious teeth have also recently been found to be associated with this syndrome. Autosomal dominant inheritance is probable, although X-linked dominant inheritance cannot be excluded. These patients require neuropsychological support. Surgery may be necessary in case of severe microretrognathia, cryptorchidism, hypospadias or inguinal hernia. *Author: Orphanet (February 2005)*.
