camptodactyly-taurinuria syndrome
Findings
No curated finding names camptodactyly-taurinuria syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
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.
Definition from the Mondo Disease Ontology (MONDO:0015272), read 2026-09-29. CC BY 4.0.
Features
4 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- AminoaciduriaHPOHP:0003355
- Very frequent (80% to 99% of cases)
- Camptodactyly of fingerHPOHP:0100490
- Very frequent (80% to 99% of cases)
- Camptodactyly of toeHPOHP:0001836
- Very frequent (80% to 99% of cases)
- Increased urinary taurineHPOHP:0003166
- Very frequent (80% to 99% of cases)
Where it sits
- A kind of
Other names
1 name
Resolves to: camptodactyly-taurinuria syndrome
- Also called
- familial streblodactyly with amino-aciduria