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.
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