otopalatodigital spectrum disorder
otopalatodigital spectrum disorderA group of X-linked skeletal dysplasias with a range of manifestations from mild (otopalatodigital syndrome types 1 and 2; frontometaphyseal dysplasia) to severe (Melnick-Needles syndrome), This has led some authors to suggest that distinguishing them on clinical grounds serves no purpose, and that they should be categorised under the name fronto-otopalatodigital osteodysplasia. They are caused by defects in FLNA, which encodes filamin A.
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