Синдром аніридії - ниркової агенезії - психомоторної затримки
ORPHA:1064· ICD-10 Q87.8· Aniridia-renal agenesis-psychomotor retardation syndrome
Визначення(English summary)
An extremely rare syndrome reported in two siblings of non consanguineous parents that is characterized by the association of ocular abnormalities (partial aniridia, congenital glaucoma, telecanthus) with frontal bossing, hypertelorism, unilateral renal agenesis and mild psychomotor delay. There have been no further descriptions in the literature since 1974.
- Поширеність
- <1 / 1 000 000
- Успадкування
- Autosomal recessive
- Вік початку
- Neonatal