Radio-renal syndrome

Radio-renal syndrome
Other namesRadio renal syndrome[1]
SpecialtyMedical 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

  1. ^ "Radio renal syndrome". NORD (National Organization for Rare Disorders). 16 June 2022. Retrieved 2022-10-19.
  2. ^ "Radio renal syndrome - About the Disease - Genetic and Rare Diseases Information Center". rarediseases.info.nih.gov. Retrieved 2022-10-19.
  3. ^ "Radio-renal syndrome".
  4. ^ "Entry - 179280 - RADIAL-RENAL SYNDROME - OMIM". www.omim.org. Retrieved 2022-10-19.
  5. ^ 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. S2CID 42469330.
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