Conditions / Nervous system
MASA syndrome
info · Nervous system
A hereditary spastic paraplegia that is characterized by hydrocephalus, spasticity of the lower limbs, adducted thumbs, aphasia, seizures, agenesis of the corpus callosum and intellectual disability in the mild to moderate range.
Signs and symptoms
- Microcephaly
- Strabismus
- Talipes equinovarus
- Pes cavus
- Short stature
- Shuffling gait
- Agenesis of corpus callosum
- Lower limb spasticity
- Aphasia
- Adducted thumb
Also known as: CRASH syndrome; Gareis-Mason syndrome; L1 syndrome; SPG1; X-linked complicated hereditary spastic paraplegia type 1