/mandibuloacral dysplasia with type A lipodystrophy

mandibuloacral dysplasia with type A lipodystrophy

Rare Disease

MONDO:0009557

Also Known As

mandibuloacral dysplasiamandibuloacral dysplasia with type A lipodystrophyMADAMANDIBULOACRAL dysplasia with type A lipodystrophyMandibuloacral dysplasia with type a lipodystrophy, atypicalcraniomandibular Dermatodysostosislipodystrophy, type A, associated with Mandibuloacral dysplasia

Definition

A rare, autosomal recessive inherited disorder caused by mutations in the LMNA gene. It is characterized by growth retardation, craniofacial abnormalities with mandibular hypoplasia, skeletal abnormalities with progressive osteolysis of the distal phalanges and clavicles, and mottled or patchy skin pigmentation. The affected individuals have a marked acral loss of adipose tissue with normal or increased adipose tissue in the neck and trunk.