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  2. Mandibuloacral dysplasia

Mandibuloacral dysplasia

Definition:

Mandibuloacral dysplasia (MAD) is an autosomal recessive disorder characterized by postnatal growth retardation, hypoplasia of the mandible and clavicles, acro-osteolysis, and partial lipodystrophy. Affected individuals have a normal appearance at birth, then progressively develop dysmorphic skeletal features. Mutations in LMNA or ZMPSTE24 are responsible for the disorder.

Biomedical Dictionary

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