Синдром гіпертелоризму-преаурикулярного синусу-точкових ямок-глухоти
ORPHA:293958· ICD-10 Q87.8· Hypertelorism-preauricular sinus-punctual pits-deafness syndrome
Визначення(English summary)
A rare developmental defect during embryogenesis syndrome characterized by hypertelorism, bilateral preauricular sinus, bilateral punctal pits, lacrimal duct obstruction, hearing loss, abnormal palmar flexion creases and bilateral distal axial triradii. Shawl scrotum has also been reported.
- Поширеність
- <1 / 1 000 000
- Успадкування
- Autosomal dominant
- Вік початку
- Infancy, Neonatal