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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↑ 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)

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

Mandibuloacral dysplasia

Where it sits in the disease tree

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