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Mandibuloacral dysplasia

Synonym(s) MAD
Prevalence <1 / 1 000 000
Inheritance Autosomal recessive
Age of onset Infancy
  • Q87.5
  • C0432291
MeSH -
MedDRA -


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.

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Detailed information

Clinical practice guidelines
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