Ichthyosis-intellectual disability-dwarfism-renal impairment syndrome

Definition

A rare multiple congenital anomalies syndrome characterized by nonbullous congenital ichthyosis (skin lesions are predominantly detected on the back and extensor surfaces of the limbs, including the flexures; the face is not affected), moderate intellectual disability, dwarfism and renal impairment. Moderate hirsutism may also be present. No significant facial dysmorphism has been reported. There have been no further descriptions in the literature since 1975.