Camptodactyly-taurinuria syndrome

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]

Camptodactyly-taurinaria syndrome
Other namesFamilial streblodactyly with amino aciduria
SpecialtyMedical genetics
Symptomspermanent flexion of the fingers of the hand (camptodactyly, and high leves of taurine in urine
Usual onsetInfancy
Durationlife-long
CausesGenetic mutation
Preventionnone
Prognosisgood
Frequencyvery rare, less than 20 cases reported worldwide

References

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  1. ^ a b "Camptodactyly taurinuria - About the Disease - Genetic and Rare Diseases Information Center". rarediseases.info.nih.gov. 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.{{cite web}}: CS1 maint: numeric names: authors list (link)