Orofaciodigital syndrome type 9

Orpha code: 141007OMIM code: 258865

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).

Disease data
Classification

Malformation syndrome

Synonyms
OFD9
OFD9
Zespół ustno-twarzowo-palcowy z nieprawidłowościami siatkówki
Oral-facial-digital syndrome type 9
Oral-facial-digital syndrome with retinal abnormalities
Orofaciodigital syndrome with retinal abnormalities
ORPHA code
141007
OMIM code
258865
ICD10 code
Q87.0
ICD11 code
LD25.00

No additional description.

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