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camptodactyly-taurinuria syndrome - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

camptodactyly-taurinuria syndrome

MONDO:0015272

Also known as:familial streblodactyly with amino-aciduriacamptodactyly taurinuriacamptodactyly with taurinuria

Overview

Camptodactyly-taurinuria syndrome is a congenital malformation syndrome characterized by the association of a permanent camptodactyly of the fingers with the over excretion of taurine in the urine. Camptodactyly mainly affects the little finger, although any finger may be involved. The disease has been described in 17 affected patients from 4 unrelated families. An autosomal dominant inheritance has been suggested. There have been no further descriptions in the literature since 1966.

Diagnosis

Biomarker and diagnostic research for camptodactyly-taurinuria syndrome has been reported in the published literature.

Prognosis

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for camptodactyly-taurinuria syndrome.

114 publications have been identified in PubMed for camptodactyly-taurinuria syndrome. Research spans Review / Meta-Analysis (68%), Basic Science / Preclinical (13%), and Epidemiology / Natural History (6%).

Research Type	Count	% of Total
Research summaries	78	68%

Data assembled from 3 of 12 sources · Last updated Sep 20, 2026, 3:09 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:1325

GARD

Genetic and Rare Diseases Info Center

GARD:1069

Questions for Your Care Team

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camptodactyly-taurinuria syndrome

Overview

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

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