Melnick-Needles syndrome

Melnick-Needles syndrome2016-11-27T04:32:08+00:00

Melnick-Needles syndrome 


A severe X-linked dominant bone disorder (OMIM:309350) characterised by a typical facies–exophthalmos, full cheeks, micrognathia, malalignment of teeth, flaring of the metaphyses of long bones, bowing of legs, irregular constrictions in the ribs, sclerosis of the base of skull

Molecular pathology Gain-of-function mutations in FLNA, which encodes filamin A, cause Melnick-Needles syndrome.

Synonyms Generalised osseous dysplasia syndrome, Melnick-Needles osteodysplasty, MNS, osteodysplasia, osteodysplasty, osteodysplasty of Melnick and Needles


Leave A Comment

This site uses Akismet to reduce spam. Learn how your comment data is processed.