Синдром Доброва
ORPHA:3262· ICD-10 Q87.8· Dobrow syndrome
Визначення(English summary)
A rare multiple congenital defects/dysmorphic syndrome characterized by variable degrees of bony syngnathia associated with variable additional abnormalities, including growth retardation, intellectual disability, microcephaly, iris coloboma, nystagmus, deafness, and vertebral segmentation defects, as well as genital, limb and additional facial malformations, among others.
- Поширеність
- <1 / 1 000 000
- Вік початку
- Antenatal, Infancy, Neonatal