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Орофаціодигітальний синдром, тип 9

ORPHA:141007· ICD-10 Q87.0· Orofaciodigital syndrome type 9

Визначення(English summary)

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).

Поширеність
<1 / 1 000 000
Успадкування
Autosomal recessive
Вік початку
Antenatal, Infancy, Neonatal