otopalatodigital spectrum disorder

A 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.

References in periodicals archive

It was first reported by Melnick and Needles in 1966 and is the most serious disease of the otopalatodigital spectrum disorders [1].

Naudion et al., "Otopalatodigital spectrum disorders: refinement of the phenotypic and mutational spectrum," Journal of Human Genetics, vol.

Craniofacial and Dental Manifestations of Melnick-Needles Syndrome: Literature Review and Orthodontic Management

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