Mandibuloacral dysplasia

Mandibuloacral dysplasia

Definition

Mandibuloacral dysplasia (MAD) is a rare genetic bone disorder characterized by growth delay, postnatal development of craniofacial anomalies including mandibular hypoplasia, progressive acral osteolysis, mottled or patchy pigmentation, skin atrophy, and partial or generalized lipodystrophy.

Also known as MAD, mandibuloacral dysplasia with lipodystrophy — per MONDO

Also identified as