Intellectual disability-spasticity-ectrodactyly syndrome
ORPHA:1891· ICD-10 Q87.2
Definition
Intellectual disability-spasticity-ectrodactyly syndrome is a rare intellectual disability syndrome characterized by severe intellectual disability, spastic paraplegia (with wasting of the lower limbs) and distal transverse defects of the limbs (e.g. ectrodactyly, syndactyly, clinodactyly of the hands and/or feet).
- Prevalence
- <1 / 1 000 000
- Age of onset
- Infancy, Neonatal