Camptodactyly-taurinuria syndrome
| 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
[edit]- ^ a b "Camptodactyly taurinuria - About the Disease - Genetic and Rare Diseases Information Center". rarediseases.info.nih.gov. Retrieved 2022-05-11.
- ^ "Camptodactyly-Taurinuria Syndrome". DoveMed. Retrieved 2022-05-11.
- ^ "Open Targets Platform". platform.opentargets.org. Retrieved 2022-05-11.
- ^ RESERVED, INSERM US14-- ALL RIGHTS. "Orphanet: Familial streblodactyly with amino aciduria". www.orpha.net. Retrieved 2022-05-11.
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