mandibuloacral dysplasia type B lipodystrophy

Term ID

DOID:0081129

Synonyms

Definition

A mandibuloacral dysplasia that has_material_basis_in compound heterozygous mutation in the ZMPSTE24 gene on chromosome 1p34 and that is characterized by postnatal growth retardation, craniofacial anomalies such as mandibular hypoplasia, skeletal anomalies such as progressive osteolysis of the terminal phalanges and clavicles, and skin changes such as mottled hyperpigmentation and atrophy. The lipodystrophy is characterized by generalized loss of subcutaneous fat involving the face, trunk, and extremities. https://pubmed.ncbi.nlm.nih.gov/11836320/

References

• MIM:608612

Ontology

Human Disease   ( DOID:0081129 )