mandibuloacral dysplasia type A lipodystrophy

Term ID

DOID:0081128

Synonyms

Definition

A mandibuloacral dysplasia that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding lamin A/C (LMNA) on chromosome 1q22 and that is characterized by growth retardation, craniofacial anomalies with mandibular hypoplasia, skeletal abnormalities with progressive osteolysis of the distal phalanges and clavicles, and pigmentary skin changes. The lipodystrophy is characterized by a marked acral loss of fatty tissue with normal or increased fatty tissue in the neck and trunk. https://pubmed.ncbi.nlm.nih.gov/19764019/

References

• GARD:3374
• MIM:248370
• ORDO:90153

Ontology

Human Disease   ( DOID:0081128 )