Mandibuloacral dysplasia

Orpha code: 2457OMIM code: 248370

Definition

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.

Disease data
Classification

Malformation syndrome

Synonyms
MAD
MAD
ORPHA code
2457
OMIM code
248370
ICD10 code
Q87.5
ICD11 code
LD27.6Z

No additional description.

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