Orofaciodigital syndrome type 9

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Orofaciodigital syndrome type 9

Synonyms: OFD9 | Oral-facial-digital syndrome type 9 | Oral-facial-digital syndrome with retinal abnormalities | Orofaciodigital syndrome with retinal abnormalities

Oral-facial-digital syndrome type 9 is characterized by highly arched palate with bifid tongue and bilateral supernumerary lower canines hamartomatous tongue multiple frenula hypertelorism telecanthus strabismus broad and/or bifid nasal tip short stature bifid halluces forked metatarsal poly- and syndactyly mild intellectual deficit and specific retinal abnormalities (bilateral optic disc coloboma and retinal dysplasia with partial detachment).

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.

Reference: Access aggregated data from Orphanet at Orphadata.

Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version February 2024

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Orofaciodigital syndrome type 9?

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