Ichthyosis-intellectual disability-dwarfism-renal impairment

Ichthyosis-intellectual disability-dwarfism-renal impairment
Other names	Icthyosis-intellectual deficit-dwarfism-renal impairment, Ichthyosis-mental retardation-dwarfism-renal impairment, Passwell-Goodman-Siprkowski syndrome
Specialty	Medical genetics
Symptoms	ichthyosis from birth, intellectual disabilities, abnormally short stature, and renal impairments
Usual onset	Birth
Duration	Life-long
Causes	Autosomal recessive genetic mutation
Differential diagnosis	ichthyosis vulgaris, isolated intellectual disability, kidney dysplasia, idiopathic short stature
Frequency	very rare, only 4 cases have been described in medical literature

Ichthyosis-intellectual disability-dwarfism-renal impairment is a very rare autosomal recessive ichthyotic genetic disorder which consists of congenital ichthyosis, intellectual disabilities, dwarfism/short stature and renal impairment. This condition has been described only in four members of an Iranian family and was discovered in the summer of 1975.