/paraplegia-intellectual disability-hyperkeratosis syndrome

paraplegia-intellectual disability-hyperkeratosis syndrome

Rare Disease

MONDO:0010662

Also Known As

Fitzsimmons-McLachlan-Gilbert syndromeintellectual disability with spastic paraplegia and palmoplantar hyperkeratosismental retardation with spastic paraplegia and palmoplantar hyperkeratosis

Definition

A syndrome characterized by intellectual deficit, spasticity in the lower limbs (spastic paraplegia), pes cavus deformity of both feet, an abnormal gait, and palmar and plantar hyperkeratosis. It has been reported in four brothers. The mother of the affected boys had normal intelligence, plantar hyperkeratosis and a strong facial resemblance to her retarded sons. Her three daughters were normal. This syndrome most likely an X-linked recessive condition.