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Синдром телеканта-гіпертелоризму-косоокості-pes cavus

ORPHA:3293· ICD-10 Q87.8· Telecanthus-hypertelorism-strabismus-pes cavus syndrome

Визначення(English summary)

Telecanthus-hypertelorism-strabismus-pes cavus syndrome is characterized by telecanthus, hypertelorism, strabismus, pes cavus and other variable anomalies. It has been described in a father and his son. The son also had hypospadias, bilateral inguinal hernia, clinodactyly and camptodactyly of the fingers, and radiographic findings including flared metaphyses of the long bones and osteopenia.

Поширеність
<1 / 1 000 000
Успадкування
Unknown
Вік початку
Neonatal