Medicine:Ichthyosis-intellectual disability-dwarfism-renal impairment

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Short description: Genetic disorder


Ichthyosis-intellectual disability-dwarfism-renal impairment
Other namesIcthyosis-intellectual deficit-dwarfism-renal impairment, Ichthyosis-mental retardation-dwarfism-renal impairment,[1] Passwell-Goodman-Siprkowski syndrome[2]
SpecialtyMedical genetics
Symptomsichthyosis from birth, intellectual disabilities, abnormally short stature, and renal impairments
Usual onsetBirth
DurationLife-long
CausesAutosomal recessive genetic mutation
Differential diagnosisichthyosis vulgaris, isolated intellectual disability, kidney dysplasia, idiopathic short stature
Frequencyvery 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.[3][4][5][6][2]

References

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