Turner syndrome
ORPHA:881· ICD-10 Q96.0
Definition
A rare chromosomal anomaly syndrome characterized by complete or partial loss of an X chromosome in phenotypic females, clinically manifesting with short stature, primary ovarian insufficiency as well as cardiovascular, renal, liver, autoimmune diseases, hearing loss and neurocognitive abnormalities.
- Prevalence
- 1-9 / 100 000
- Inheritance
- Not applicable, Unknown
- Age of onset
- Antenatal, Childhood, Infancy, Neonatal