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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).


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: -
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