Posterior fusion of lumbosacral vertebrae-blepharoptosis syndrome
ORPHA:2064· ICD-10 Q87.5
Definition
A rare syndrome characterized by congenital ptosis and posterior fusion of the lumbosacral vertebrae. It has been described in a mother and her two daughters.
- Prevalence
- <1 / 1 000 000
- Inheritance
- Autosomal dominant
- Age of onset
- Childhood