Orofaciodigital syndrome 5
Other Names: OFD5; Oral-facial-digital syndrome 5; Thurston syndrome; Polydactyly postaxial with median cleft of upper lip; OFD syndrome 5; Orofaciodigital syndrome V; Oral facial digital syndrome type 5; Oral facial digital syndrome 5; OFDS 5
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[edit | edit source]
Less than 20 patients (predominantly of Indian origin) have been reported so far.
Cause[edit | edit source]
Autosomal recessive inheritance has been suggested, but the causative gene has not yet been identified.
NIH genetic and rare disease info[edit source]
Orofaciodigital syndrome 5 is a rare disease.
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