Mandibuloacral dysplasia

MONDO:0016584

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.

Also known as: MAD, mandibuloacral dysplasia with lipodystrophy

3 clinical trials for this condition and its sub-types, 0 tagged with Mandibuloacral dysplasia itself.

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Where it sits in the disease tree

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Part of

↑ Developmental anomaly of metabolic origin (384) ↑ Multiple congenital anomalies/dysmorphic syndrome without intellectual disability (163) ↑ Hereditary lipodystrophy (17) ↑ Primary osteolysis (5)

Sub-types of Mandibuloacral dysplasia

Mandibuloacral dysplasia with type A lipodystrophy 0 trials
Mandibuloacral dysplasia with type B lipodystrophy 0 trials

Including sub-types (3) Tagged with Mandibuloacral dysplasia (0)

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