Otopalatodigital spectrum disorders (OPDSD) constitute a group of rare, congenital, X-linked conditions caused by mutations in the filamin A (FLNA) gene.
By Syed S. A.Reviewed by Sophia Coveney It includes four syndromes: OPSD type 1 and type 2 , frontometaphyseal dysplasia , and Melnick–Needles syndrome .
History Taybi reported oto-palato-digital syndrome in 1962, while Dudding et al. were the first to apply the term to the disease in 1967. Dudding et al. described three male siblings who had conduction deafness, cleft palate, distinctive facial features, and extensive bone abnormalities. Filamin A interacts with another protein called actin and assists it in the formation of the cytoskeleton's branching network of filaments. Filamin A also connects actin to a variety of other proteins, allowing them to carry out numerous roles within the cell.
Type I Otopalatodigital syndrome type 1 is a developmental condition characterized mostly by skeletal abnormalities. It is typically the least severe of the otopalatodigital spectrum disorders. In two successive pregnancies, Joksic et al. presented prenatal ultrasonography and postmortem evidence that led to the diagnosis of OPD type I. This is the first report of OPD type I prenatal diagnosis .
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