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Orofaciodigital syndrome type 9
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).
ORPHA:141007Classification level: Disorder
- 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: -
- ICD-10: Q87.0
- OMIM: 258865
- UMLS: C0796102
- MeSH: -
- GARD: 10520
- MedDRA: -
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.