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GTR Home > Conditions/Phenotypes > Mandibuloacral dysplasia with type B lipodystrophy

Mandibuloacral dysplasia with type B lipodystrophy

Synonyms
Lipodystrophy, type B, associated with mandibuloacral dysplasia
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

Mandibuloacral dysplasia with type B lipodystrophy (MADB) is a rare autosomal recessive disorder 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. Some patients have a progeroid appearance. Metabolic complications associated with insulin resistance have been reported (Schrander-Stumpel et al., 1992; summary by Simha et al., 2003). For a general phenotypic description of lipodystrophy associated with mandibuloacral dysplasia, see MADA (248370). [from OMIM]

Available tests

39 tests are in the database for this condition.

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Clinical tests (39 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: FACE-1, FACE1, HGPS, PRO1, RSDM1, STE24, Ste24p, ZMPSTE24
    Summary: zinc metallopeptidase STE24

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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