Mandibuloacral dysplasia

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Synonyms: MAD

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.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview. Reference: Access aggregated data from Orphanet at Orphadata. Orphadata: Free access data from Orphanet. © INSERM 1999. Available on Data version July 2024

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Mandibuloacral dysplasia?

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