Medical

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.

Mentioned in

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.

Infantile Digital Fibroma: A Rare Fibromatosis

All content on this website, including dictionary, thesaurus, literature, geography, and other reference data is for informational purposes only. This information should not be considered complete, up to date, and is not intended to be used in place of a visit, consultation, or advice of a legal, medical, or any other professional.