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