Гидроцефалия со стенозом Сильвиева водопровода

A congenital, X-linked, clinical subtype of L1 syndrome, characterized by severe hydrocephalus often of prenatal onset, adducted thumbs, spasticity (mostly evidenced by brisk tendon reflexes and extensor plantar responses) and severe intellectual disability. This subtype represents the severe end of the L1 syndrome spectrum and is associated with poor prognosis.