mandibuloacral dysplasia with type-B lipodystrophy
mandibuloacral dysplasia with type-B lipodystrophyA rare autosomal recessive disorder (OMIM:608612) characterised by mandibular and clavicular hypoplasia, acroosteolysis, delayed closure of cranial suture, joint contractures and type-B lipodystrophy, which is characterised by a generalised loss of fat.
Caused by defects of ZMPSTE24, which encodes a zinc metalloproteinase involved in the post-translational proteolytic cleavage of farnesylated prelamin A to form mature lamin A.
Segen's Medical Dictionary. © 2012 Farlex, Inc. All rights reserved.