Medical

frontometaphyseal dysplasia

Also found in: Acronyms.

frontometaphyseal dysplasia

An X-linked (OMIM:305620) condition characterised by supraorbital hyperostosis, deafness, digital anomalies and urogenital defects.

Molecular pathology
Gain-of-function mutations in FLNA, which encodes filamin A, cause frontometaphyseal dysplasia.
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