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Radio-renal syndrome

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Medical condition
Radio-renal syndrome
Other namesRadio renal syndrome
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. An increased frequency of lymphocyte chromosomal breaks has been reported. Only 4 cases have been described in the medical literature.

It was described for the first time in the year 1980 by Siegler et al.

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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