Orphanet: Mandibuloacral dysplasia

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Mandibuloacral dysplasia

Disease definition

Mandibuloacral dysplasia (MAD) is a rare genetic bone disorder characterized by growth delay, postnatal development of craniofacial anomalies including mandibular hypoplasia, progressive acral osteolysis, mottled or patchy pigmentation, skin atrophy, and partial or generalized lipodystrophy.


Classification level: Disorder
  • Synonym(s):
    • MAD
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Infancy, Neonatal
  • ICD-10: Q87.5
  • OMIM: 248370  608612
  • UMLS: C0432291
  • MeSH: -
  • GARD: 11893
  • MedDRA: -

Detailed information


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