Mandibuloacral Dysplasia with Type A Lipodystrophy

Alternative Names

  • MADA
  • Lipodystrophy, Type A, Associated with Mandibuloacral Dysplasia
  • Cranomandibular Dermatodysostosis
  • Mandibuloacral Dysplasia with Type A Lipodystrophy, Atypical

Associated Genes

Lamin A/C
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WHO-ICD-10 version:2010

Congenital malformations, deformations and chromosomal abnormalities

Other congenital malformations

OMIM Number

248370

Mode of Inheritance

Autosomal recessive

Gene Map Locus

1q22

Description

Mandibuloacral dysplasia with type A lipodystrophy (MADA) is 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. Some patients may show progeroid features. Metabolic complications can arise due to insulin resistance and diabetes. [From OMIM]

Epidemiology in the Arab World

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Subject IDCountrySexFamily HistoryParental ConsanguinityHPO TermsVariantZygosityMode of InheritanceReferenceRemarks
248370.1Saudi ArabiaMaleYes Poikiloderma; Limitation of joint mobili...NM_170707.4:c.1774G>AHomozygousAutosomal, RecessiveMaddirevula et al. 2018
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