mandibulo-acral dysplasia

mandibulo-acral dysplasia

A rare, autosomal recessive condition (OMIM:248370) characterised by mandibular hypoplasia, acro-osteolysis, stiff joints and cutaneous atrophy, variably accompanied by postnatal growth retardation, progeroid features and lipodystrophy with metabolic abnormalities.

Mandibulo-acral dysplasia (MAD) types
MAD A
Partial lipodystrophy with loss of subcutaneous fat in extremities—LMNA mutation, which encodes lamin A/C isoforms that play a key structural role in the nuclear envelope.

MAD B
Generalised lipodystrophy—ZMPSTE24 mutation, which encodes a zinc metalloproteinase that plays a critical role in proteolytic cleavage of prolamin A to lamin.