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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.

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Sub-types

Mandibuloacral dysplasia with type A lipodystrophy (0) Mandibuloacral dysplasia with type B lipodystrophy (0)

Broader categories

Disease (717) Metabolic disease (241) Musculoskeletal system disorder (214) Hereditary disease (188) Skin disorder (135) Bone disorder (51) Inborn errors of metabolism (47) Lipodystrophy (29) Human disease (15) Developmental defect during embryogenesis (8)

Trials to join now! 2 Completed 1

Rare fat disorder gene hunt: just 2 patients could unlock answers

Knowledge-focused Completed

This study looked for a new gene that causes hereditary lipodystrophy, a rare disease where people lose body fat and often develop diabetes and heart problems. Researchers studied DNA and cells from 2 patients who had the disease but no known genetic cause. The goal was to find t…

Sponsor: University Hospital, Bordeaux • Aim: Knowledge-focused

Last updated Jun 27, 2026 13:00 UTC