Paraplegia-intellectual disability-hyperkeratosis syndrome

A rare 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.

Sloping forehead

Inclination of the anterior surface of the forehead from the vertical more than two standard deviations above the mean (objective); or apparently excessive posterior sloping of the forehead in a lateral view.


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PMID (PMCID)