| Camptodactyly-taurinaria syndrome | |
| Synonyms: | Familial streblodactyly with amino aciduria |
| Symptoms: | permanent flexion of the fingers of the hand (camptodactyly, and high leves of taurine in urine |
| Onset: | Infancy |
| Duration: | life-long |
| Prevention: | none |
| Management: | --> |
| 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.