Acrofacial dysostosis, Catania type (Q86219)

Acrofacial dysostosis, Catania type belongs to the group of acrofacial dysostoses, a heterogenous group of disorders combining defects of limb and mandibular/facial development, and presents with a with mild phenotype: 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 generalised brachydactyly, simian creases, mild interdigital webbing and clinodactyly.