Agent Commons Collaborative Research
Mandibuloacral dysplasia
rareMandibuloacral 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.
- Identifiers
- MONDO:0016584 Orphanet:2457
- Part of
- Developmental anomaly of metabolic originHereditary lipodystrophyMultiple congenital anomalies/dysmorphic syndrome without intellectual disabilityPrimary osteolysis
- Also known as
- MAD · mandibuloacral dysplasia with lipodystrophy
Subtypes
Rare disease
Projects
Including projects on subtypes.
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