Medical condition
| Camptodactyly-taurinaria syndrome |
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| Other names | Familial streblodactyly with amino aciduria |
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| Specialty | Medical genetics |
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| Symptoms | permanent flexion of the fingers of the hand (camptodactyly, and high leves of taurine in urine |
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| Usual onset | Infancy |
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| Duration | life-long |
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| Causes | Genetic mutation |
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| Prevention | none |
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| Prognosis | good |
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| Frequency | very rare, less than 20 cases reported worldwide |
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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]
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