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Orofaciodigital syndrome type 9
Disease definition
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:141007
Classification level: Disorder- 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: -
- ICD-10: Q87.0
- ICD-11: LD25.00
- OMIM: 258865
- UMLS: C0796102
- MeSH: C557818
- GARD: 10520
- MedDRA: -
Summary
Epidemiology
Less than ten cases have been described in the literature.
Clinical description
Recurrent aspiration pneumonia and severe microcephaly have been reported occasionally.
Etiology
The causative gene has not yet been identified.
Genetic counseling
Autosomal and X-linked recessive inheritance were initially suggested. Taking into consideration all reported cases so far, autosomal recessive inheritance seems most likely.
A summary on this disease is available in Deutsch (2009) Español (2009) Français (2009) Italiano (2009) Nederlands (2009) Português (2009)
Additional information