Camptodactyly Taurinuria Overview
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Learn About Camptodactyly Taurinuria
What is the definition of Camptodactyly Taurinuria?
Camptodactyly-taurinuria syndrome is a congenital malformation syndrome characterized by the association of a permanent camptodactyly of the fingers (see this term) 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.
What are the alternative names for Camptodactyly Taurinuria?
- Camptodactyly taurinuria
- Camptodactyly with Taurinuria
- Camptodactyly-taurinuria
- Camptodactyly-taurinuria syndrome
- Familial streblodactyly with amino-aciduria
Who are the top Camptodactyly Taurinuria Local Doctors?
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What are the latest Camptodactyly Taurinuria Clinical Trials?
Who are the sources who wrote this article ?
Published Date: May 02, 2022
Published By: Genetic and Rare Diseases Informnation Center
What are the Latest Advances for Camptodactyly Taurinuria?
Stüve-Wiedemann syndrome with a novel variant in the LIFR gene: A case report.
Journal: Medicine
Published: January 31, 2025
Ultrasound's role in differentiating camptodactyly-arthropathy-coxa vara-pericarditis (CACP) syndrome from inflammatory arthritis in children. A narrative review.
Journal: Medical ultrasonography
Published: December 20, 2024
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