Blindness-scoliosis-arachnodactyly syndrome
ORPHA:171844· ICD-10 Q87.5
Definition
This syndrome associates progressive visual loss with scoliosis or kyphoscoliosis and arachnodactyly of the fingers and toes.
- Prevalence
- <1 / 1 000 000
- Inheritance
- Autosomal dominant
- Age of onset
- Adolescent, Childhood