Fronto-otopalatodigital syndromes

Definition:

Fronto-Otopalatodigital Osteodysplasia comprises four disorders that arise from missense mutations in FLNA encoding the actin-binding cytoskeletal protein filamin A. The disorders are inherited in X-linked fashion and characterized by a typical facial appearance and generalized osteodysplasia.

References:

[1]. C Foley, et al. Expansion of the Spectrum of FLNA Mutations Associated with Melnick-Needles Syndrome. Mol Syndromol. 2010 Sep;1(3):121-126. [Content Brief]

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