Orofaciodigital syndrome 5

From WikiMD's WELLNESSPEDIA

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]

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

Cause[edit]

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

NIH genetic and rare disease info[edit]

Orofaciodigital syndrome 5 is a rare disease.