Search for a rare disease
Other search option(s)
Camptodactyly-taurinuria syndrome
Disease definition
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.
ORPHA:1325
Classification level: Disorder- Synonym(s):
- Familial streblodactyly with amino-aciduria
- Prevalence: <1 / 1 000 000
- Inheritance: Autosomal dominant
- Age of onset: Infancy
- ICD-10: Q68.1
- OMIM: -
- UMLS: C2931681
- MeSH: C537972
- GARD: 1069
- MedDRA: -
Additional information
Further information on this disease
Patient-centred resources for this disease
Research activities on this disease
Specialised Social Services
The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.