Синдром Юнга
ORPHA:2321· ICD-10 Q87.8· Jung syndrome
Визначення(English summary)
A rare, congenital malformation syndrome characterized by the association of anterior ocular chamber cleavage disorder with developmental delay, short stature and congenital hypothyroidism. Additional manifestations include cerebellar hypoplasia, tracheal stenosis, narrow external auditory meatus, and hip dislocation. There have been no further description in the literature since 1995.
- Поширеність
- <1 / 1 000 000
- Вік початку
- Infancy, Neonatal