Orofaciodigital Syndrome Type 5

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Retrieved
2021-01-23
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Oral-facial-digital syndrome, type 5 is characterized by median cleft of the upper lip, postaxial polydactyly of hands and feet, and oral manifestations (duplicated frenulum).

Epidemiology

Less than 20 patients (predominantly of Indian origin) have been reported so far.

Etiology

Autosomal recessive inheritance has been suggested, but the causative gene has not yet been identified.