mandibuloacral dysplasia with type A lipodystrophy
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.
MONDO:0016584
mandibuloacral dysplasia
is_a
MONDO:0021106
laminopathy
is_a
MADA
related
mandibuloacral dysplasia
broad
mandibuloacral dysplasia with type A lipodystrophy
exact