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.Segen's Medical Dictionary. © 2012 Farlex, Inc. All rights reserved.
Copyright © 2003-2025 Farlex, Inc
Disclaimer
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.