OBSOLETE: Otopalatodigital syndrome

Otopalatodigital syndrome (OPD syndrome) is a group of rare X-linked genetic disorders caused by mutations in the FLNA gene, which encodes the cytoskeletal protein filamin A. This Orphanet entry (ORPHA:669) is classified as obsolete because the condition has been subdivided into more specific entities, primarily Otopalatodigital syndrome type 1 (OPD1, ORPHA:90650) and Otopalatodigital syndrome type 2 (OPD2, ORPHA:90652), which together form part of the broader otopalatodigital spectrum disorders (also including frontometaphyseal dysplasia and Melnick-Needles syndrome). These conditions primarily affect the skeletal system, craniofacial structures, and hearing. Key clinical features include conductive hearing loss (related to ossicular anomalies, hence 'oto'), cleft palate ('palato'), and characteristic skeletal abnormalities of the fingers and toes ('digital'), such as broad or short digits, bowing of long bones, and other skeletal dysplasia features. Craniofacial features may include a prominent brow ridge, wide nasal bridge, and hypertelorism. OPD type 2 is generally more severe than type 1 and can be lethal in affected males during the neonatal period, with features including more pronounced skeletal malformations, omphalocele, and respiratory insufficiency. In females, who carry one affected X chromosome, manifestations are typically milder due to X-inactivation patterns. There is no cure for otopalatodigital syndrome. Treatment is supportive and symptomatic, including hearing aids or surgical correction for hearing loss, surgical repair of cleft palate, orthopedic interventions for skeletal abnormalities, and multidisciplinary follow-up involving genetics, ENT, orthopedics, and speech therapy.

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