OMIM 248370 | DiseasesDB 33029 | |
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 include:
References
Mandibuloacral dysplasia Wikipedia(Text) CC BY-SA