Camptodactyly-taurinuria syndrome
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| 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. It is believed to be autosomal dominant.