terminal osseous dysplasia
terminal osseous dysplasiaA rare, X-linked dominant, male-lethal condition (OMIM:300244) characterised by skeletal dysplasia of limbs, defects in skin pigmentation and recurrent digital fibromas in infancy; major phenotypic variability is seen in affected females.
Defects in FLNA, which encodes filamin A, cause terminal osseous dysplasia.
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