terminal osseous dysplasia
terminal osseous dysplasia
A 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.Molecular pathology
Defects in FLNA, which encodes filamin A, cause terminal osseous dysplasia.