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Orofaciodigital syndrome type 9

Synonym(s) OFD9
Oral-facial-digital syndrome type 9
Oral-facial-digital syndrome with retinal abnormalities
Orofaciodigital syndrome with retinal abnormalities
Prevalence <1 / 1 000 000
Inheritance Autosomal recessive
Age of onset -
  • Q87.0
  • C0796102
MeSH -
MedDRA -


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).

Less than ten cases have been described in the literature.

Recurrent aspiration pneumonia and severe microcephaly have been reported occasionally.

The causative gene has not yet been identified.

Autosomal and X-linked recessive inheritance were initially suggested. Taking into consideration all reported cases so far, autosomal recessive inheritance seems most likely.

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