mandibuloacral dysplasia (DOID:0081127)
Alliance: disease page
Alt IDs: OMIM:PS248370, ORDO:2457
Definition: A bone development disease that is characterized by underdevelopment of the lower jaw and the collarbone, bone loss at the ends of the fingers and toes, skin degeneration, and partial lipodystrophy, a condition marked by selective loss of body fat from various areas of the body.