Melnick-Needles syndrome

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

Melnick-Needles syndrome 

MOLECULAR MEDICINE, ORTHOPAEDICS

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

References http://www.uniprot.org/uniprot/P21333 

http://www.omim.org/entry/309350

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