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References OMIM Gene GeneReviews HGMD HGNC
last update : 27-08-2010
Symbol FMTD
Location Xq28
Name frontometaphyseal dysplasia
Corresponding gene FLNA
Other symbol(s) FMD
Main clinical features
  • generalized skeletal dysplasia, deafness, and urogenital defects.
  • frontal hyperostosis giving great prominence to the supraciliary ridges, underdeveloped mandible, cryptorchidism, subluxated radial heads, and metaphyseal dysplasia resembling that in Pyle disease (metaphyseal dysplasia)
  • Genetic determination sex linked
    Function/system disorder osteo-articular
    Type disease
    Gene product
    Name filamin A
    Gene mutationChromosome rearrangementEffectComments
    missense     mostly frequent in the filamin repeats 9-10, 14-16, 22-23, and in the actin-binding domain