Medicine:Camptodactyly-taurinuria syndrome
From HandWiki
Camptodactyly-taurinaria syndrome | |
---|---|
Other names | Familial streblodactyly with amino aciduria |
Specialty | Medical genetics |
Symptoms | permanent flexion of the fingers of the hand (camptodactyly, and high leves of taurine in urine |
Usual onset | Infancy |
Duration | life-long |
Causes | Genetic mutation |
Prevention | none |
Prognosis | good |
Frequency | very rare, less than 20 cases reported worldwide |
Camptodactyly-taurinuria syndrome, also known as familial streblodactyly with amino aciduria is a very rare autosomal dominant genetic disorder which consists of hand camptodactyly (usually affecting the pinky finger) and high levels of taurine in urine due to over-excretion of it. 17 affected people from 4 families across the world have been reported in medical literature. No new cases have been described since 1966.[1][2][3][4] It is believed to be autosomal dominant.[1]
References
- ↑ 1.0 1.1 "Camptodactyly taurinuria - About the Disease - Genetic and Rare Diseases Information Center" (in en). https://rarediseases.info.nih.gov/diseases/1069/camptodactyly-taurinuria.
- ↑ "Camptodactyly-Taurinuria Syndrome" (in en). http://www.dovemed.com/diseases-conditions/camptodactyly-taurinuria-syndrome/.
- ↑ "Open Targets Platform" (in en). https://platform.opentargets.org/.
- ↑ RESERVED, INSERM US14-- ALL RIGHTS. "Orphanet: Familial streblodactyly with amino aciduria" (in en). https://www.orpha.net/consor/cgi-bin/Disease_Search.php?lng=EN&data_id=1548&Disease_Disease_Search_diseaseType=ORPHA&Disease_Disease_Search_diseaseGroup=1325&Disease(s)/group%20of%20diseases=Familial-streblodactyly-with-amino-aciduria&title=Familial-streblodactyly-with-amino-aciduria&search=Disease_Search_Simple.
![]() | Original source: https://en.wikipedia.org/wiki/Camptodactyly-taurinuria syndrome.
Read more |