Mandibuloacral Dysplasia

Watchlist

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Retrieved

2021-01-23

Source

Orphanet

Trials

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Genes

LMNA, MMP9, ZMPSTE24, AMPD1, RET, SUN2, SIRT1, AGPAT2, CCDC6, TAS2R38, PTCH1, BGLAP, PPARG, POLD1, MXD1, F9, LMNB2

Drugs

Metreleptin ( MYALEPT, MYALEPTA )

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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.