MeSH Browser

MeSH Supplementary: Mandibuloacral dysplasia with type A lipodystrophy
Unique ID: C535705
RDF Unique Identifier: http://id.nlm.nih.gov/mesh/C535705
Entry Term(s): Craniomandibular Dermatodysostosis; Lipodystrophy, type A, associated with mandibuloacral dysplasia; Mandibuloacral Dysplasia with Type A Lipodystrophy, Atypical
Registry Numbers: 0
Heading Mapped to: *Lipodystrophy; Mandible / abnormalities; *Acro-Osteolysis
Frequency: 22
Note: An autosomal recessive disorder 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. It is associated with mutations in the LMNA gene. OMIM: 248370
Date of Entry: 2010/08/25
Revision Date: 2016/09/29

Mandibuloacral dysplasia with type A lipodystrophy MeSH Supplementary Concept Data 2025