Medicine:Radio-renal syndrome
From HandWiki
| Radio-renal syndrome | |
|---|---|
| Other names | Radio renal syndrome[1] |
 | |
| Specialty | Medical genetics |
Radio-renal syndrome is a rare, presumably autosomal dominant genetic disorder characterized by underdevelopment of the digits as a result of the maldevelopment of either the radius, ulnae, or both, alongside renal ectopia, renal agenesis, mild malformations of the external ear, short stature.[2][3] An increased frequency of lymphocyte chromosomal breaks has been reported. Only 4 cases have been described in the medical literature.[4]
It was described for the first time in the year 1980 by Siegler et al.[5]
References
- ↑ "Radio renal syndrome" (in en-US). https://rarediseases.org/gard-rare-disease/radio-renal-syndrome/.
- ↑ "Radio renal syndrome - About the Disease - Genetic and Rare Diseases Information Center" (in en). https://rarediseases.info.nih.gov/diseases/224/radio-renal-syndrome.
- ↑ "Radio-renal syndrome". https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3015.
- ↑ "Entry - 179280 - RADIAL-RENAL SYNDROME - OMIM" (in en-us). https://www.omim.org/entry/179280.
- ↑ Siegler, R. L.; Larsen, P.; Buehler, B. A. (February 1980). "Upper limb anomalies and renal disease". Clinical Genetics 17 (2): 117–119. doi:10.1111/j.1399-0004.1980.tb00118.x. ISSN 0009-9163. PMID 7363497. https://pubmed.ncbi.nlm.nih.gov/7363497/.
 |
