Frontometaphyseal dysplasia

rare

Frontometaphyseal dysplasia (FMD) belongs to the otopalatodigital syndrome spectrum disorder and is characterized by anomalous ossification and skeletal patterning of the axial and appendicular skeleton, facial dysmorphism and conductive and sensorineural hearing loss.

Identifiers: MONDO:0015942 Orphanet:1826
Part of: Otopalatodigital syndrome spectrum disorder
Also known as: FMD

Subtypes

All diseases Rare only

Disease

Frontometaphyseal dysplasia 1 MONDO:0024550 FLNA
Frontometaphyseal dysplasia 2 MONDO:0014935 MAP3K7

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