Medicine:Ichthyosis-intellectual disability-dwarfism-renal impairment
From HandWiki
Short description: Genetic disorder
| Ichthyosis-intellectual disability-dwarfism-renal impairment | |
|---|---|
| Other names | Icthyosis-intellectual deficit-dwarfism-renal impairment, Ichthyosis-mental retardation-dwarfism-renal impairment.[1] |
| 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 |
| Prevention | none |
| 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.[2][3][4][5][6]
References
- ↑ "Ichthyosis-intellectual disability-dwarfism-renal impairment". 16 June 2022. https://rarediseases.org/gard-rare-disease/ichthyosis-intellectual-disability-dwarfism-renal-impairment/.
- ↑ "Ichthyosis-intellectual disability-dwarfism-renal impairment - About the Disease - Genetic and Rare Diseases Information Center". https://rarediseases.info.nih.gov/diseases/4641/ichthyosis-intellectual-disability-dwarfism-renal-impairment.
- ↑ 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. https://pubmed.ncbi.nlm.nih.gov/1149323/.
- ↑ "OMIM Entry - 242530 - ICHTHYOSIS, MENTAL RETARDATION, DWARFISM, AND RENAL IMPAIRMENT". https://omim.org/entry/242530.
- ↑ "Orphanet: Ichthyosis intellectual disability dwarfism renal impairment syndrome". https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=2278.
- ↑ "Ichthyosis-intellectual disability-dwarfism-renal impairment syndrome. Also known as: Passwell-Goodman-Siprkowski syndrome". https://rarediseases.oscar.ncsu.edu/disease/ichthyosis-intellectual-disability-dwarfism-renal-impairment-syndrome/about/.
 |  |
