Term Name: | frontometaphyseal dysplasia |
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Synonyms: | FMD |
Definition: | An otopalatodigital syndrome spectrum disorder characterized by abnormal ossification and skeletal patterning of the axial and appendicular skeleton, facial dysmorphism, urogenital anomalies, and hearing loss. |
Ontology: | Human Disease [DOID:0111785] ( DOID:0111785 ) |