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.
References in periodicals archive ?
Terminal osseous dysplasia is caused by a single recurrent mutation in the FLNA gene.
Noninclusion-body infantile digital fibromatosis; a lesion heralding terminal osseous dysplasia and pigmentary defects syndrome.