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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

73 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 (618) Metabolic disease (215) Musculoskeletal system disorder (196) Hereditary disease (172) Skin disorder (123) Bone disorder (47) Inborn errors of metabolism (42) Lipodystrophy (26) Human disease (14) Developmental defect during embryogenesis (7)

Trials to join now! 38 Not yet recruiting 10 Not yet finished but already full! 8 Completed 16 Terminated 1

Scientists gather leftover surgical tissue to unlock secrets of bone disease

Knowledge-focused Terminated

This study collected bone, cartilage, skin, and fat tissue from 50 patients undergoing surgery at Children's National Medical Center. The goal was to grow cells from these tissues in the lab and analyze them to better understand bone and connective tissue diseases. The study was …

Sponsor: National Institute of Dental and Craniofacial Research (NIDCR) • Aim: Knowledge-focused

Last updated Jun 27, 2026 07:52 UTC