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

1. "Camptodactyly taurinuria - About the Disease - Genetic and Rare Diseases Information Center". rarediseases.info.nih.gov. Archived from the original on February 1, 2017. Retrieved 2022-05-11.
2. "Camptodactyly-Taurinuria Syndrome". DoveMed. Retrieved 2022-05-11.
3. "Open Targets Platform". platform.opentargets.org. Retrieved 2022-05-11.
4. RESERVED, INSERM US14-- ALL RIGHTS. "Orphanet: Familial streblodactyly with amino aciduria". www.orpha.net. Retrieved 2022-05-11.