Mandibuloacral dysplasia


Mandibuloacral dysplasia is a rare autosomal recessive syndrome characterized by mandibular hypoplasia, delayed cranial suture closure, dysplastic clavicles, abbreviated and club-shaped terminal phalanges, acroosteolysis, atrophy of the skin of the hands and feet, and typical facial changes.

Types

TypeOMIMGeneLocus
MADALMNA1q21.2
MADBZMPSTE241p34