/intellectual disability-spasticity-ectrodactyly syndrome

intellectual disability-spasticity-ectrodactyly syndrome

Rare Disease

MONDO:0009524

Also Known As

Jancar syndromeectrodactyly, spastic paraplegia and intellectual disabilityectrodactyly, spastic paraplegia and mental retardationintellectual disability spasticity ectrodactylyintellectual disability, spasticity and transverse limb defectslimb defects, distal transverse, with intellectual disability and spasticitylimb defects, distal transverse, with mental retardation and spasticitymental retardation spasticity ectrodactylymental retardation, spasticity and transverse limb defects

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).