Ichthyosis-intellectual disability-dwarfism-renal impairment

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.[2][3][4][5][6]

Ichthyosis-intellectual disability-dwarfism-renal impairment
Other namesIcthyosis-intellectual deficit-dwarfism-renal impairment, Ichthyosis-mental retardation-dwarfism-renal impairment.[1]
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
Preventionnone
Frequencyvery rare, only 4 cases have been described in medical literature

References

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  1. ^ "Ichthyosis-intellectual disability-dwarfism-renal impairment". 16 June 2022.
  2. ^ "Ichthyosis-intellectual disability-dwarfism-renal impairment - About the Disease - Genetic and Rare Diseases Information Center".
  3. ^ Passwell, J. H.; Goodman, R. M.; Ziprkowski, M.; Cohen, B. E. (1975). "Congenital ichthyosis, mental retardation, dwarfism and renal impairment: A new syndrome". Clinical Genetics. 8 (1): 59–65. doi:10.1111/j.1399-0004.1975.tb01955.x. PMID 1149323. S2CID 19802525.
  4. ^ "OMIM Entry - 242530 - ICHTHYOSIS, MENTAL RETARDATION, DWARFISM, AND RENAL IMPAIRMENT".
  5. ^ "Orphanet: Ichthyosis intellectual disability dwarfism renal impairment syndrome".
  6. ^ "Ichthyosis-intellectual disability-dwarfism-renal impairment syndrome. Also known as: Passwell-Goodman-Siprkowski syndrome". rarediseases.oscar.ncsu.edu.