Jacobsen syndrome
ORPHA:2308· ICD-10 Q93.5
Definition
A rare genetic disorder caused by deletions in the long arm of chromosome 11 (11q) and mainly characterized by craniofacial dysmorphism, congenital heart disease, intellectual disability, Paris Trousseau bleeding disorder, structural kidney defects and immunodeficiency.
- Prevalence
- Unknown
- Inheritance
- Not applicable, Unknown
- Age of onset
- Antenatal