View source for Medicine:Camptodactyly-taurinuria syndrome

{{Infobox medical condition
 |name            = Camptodactyly-taurinaria syndrome
 |synonyms        = Familial streblodactyly with amino aciduria
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 |specialty       = Medical genetics
 |symptoms        = permanent flexion of the fingers of the hand ([[Medicine:Camptodactyly|camptodactyly]], and high leves of taurine in urine
 |complications   =
 |onset           = Infancy
 |duration        = life-long
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 |causes          = Genetic mutation
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 |prevention      = none
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 |prognosis       = good
 |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 [[Medicine:Genetic disorder|genetic disorder]] which consists of hand [[Medicine:Camptodactyly|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.<ref name=":0">{{Cite web |title=Camptodactyly taurinuria - About the Disease - Genetic and Rare Diseases Information Center |url=https://rarediseases.info.nih.gov/diseases/1069/camptodactyly-taurinuria |access-date=2022-05-11 |website=rarediseases.info.nih.gov |language=en}}</ref><ref>{{Cite web |title=Camptodactyly-Taurinuria Syndrome |url=http://www.dovemed.com/diseases-conditions/camptodactyly-taurinuria-syndrome/ |access-date=2022-05-11 |website=DoveMed |language=en}}</ref><ref>{{Cite web |title=Open Targets Platform |url=https://platform.opentargets.org/ |access-date=2022-05-11 |website=platform.opentargets.org |language=en}}</ref><ref>{{Cite web |last=RESERVED |first=INSERM US14-- ALL RIGHTS |title=Orphanet: Familial streblodactyly with amino aciduria |url=https://www.orpha.net/consor/cgi-bin/Disease_Search.php?lng=EN&data_id=1548&Disease_Disease_Search_diseaseType=ORPHA&Disease_Disease_Search_diseaseGroup=1325&Disease(s)/group%20of%20diseases=Familial-streblodactyly-with-amino-aciduria&title=Familial-streblodactyly-with-amino-aciduria&search=Disease_Search_Simple |access-date=2022-05-11 |website=www.orpha.net |language=en}}</ref> It is believed to be autosomal dominant.<ref name=":0" />

== References ==
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{{Sourceattribution|Camptodactyly-taurinuria syndrome}}