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,[1] Passwell-Goodman-Siprkowski syndrome[2]
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.^{[3][4][5][6][2]}

References

1. "Ichthyosis-intellectual disability-dwarfism-renal impairment". National Organization for Rare Disorders. Archived from the original on 10 May 2022. Retrieved 16 June 2022.
2. "Ichthyosis-intellectual disability-dwarfism-renal impairment syndrome. Also known as: Passwell-Goodman-Siprkowski syndrome". Rare Disease InfoHub. North Carolina State University. Archived from the original on 3 November 2023.
3. "Ichthyosis-intellectual disability-dwarfism-renal impairment". Genetic and Rare Diseases Information Center. September 2024. Archived from the original on 18 March 2021. Retrieved 8 December 2024.
4. 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.
5. "242530 - ICHTHYOSIS, MENTAL RETARDATION, DWARFISM, AND RENAL IMPAIRMENT". Online Mendelian Inheritance in Man. Retrieved 8 December 2024.
6. "Ichthyosis intellectual disability dwarfism renal impairment syndrome". Orphanet. Retrieved 8 December 2024.