Camptodactyly-taurinuria syndrome
historical
Synonyms: Familial streblodactyly with amino-aciduria
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Infancy
- Status
- historical
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.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Camptodactyly-taurinuria syndrome | Familial streblodactyly with amino-aciduria |
| fr | Syndrome de camptodactylie-taurinurie | Camptodactylie familiale avec une aminoacidurie |
| de | Kamptodaktylie-Taurinurie-Syndrom | Familiäre Streblodaktylie mit Aminoazidurie |
| es | Síndrome de camptodactilia-taurinúria | Estreblodactilia familiar con amino-aciduria |
| it | Camptodattilia - taurinuria | Camptodattilia familiare con aminoaciduria |
| nl | Camptodactylie - taurinurie-syndroom | Familiale streblodactylie met amino-acidurie |
| pt | Síndrome de camptodactilia-taurinúria | |
| pl | Kamptodaktylia - taurynuria | Rodzinna streblodaktylia z aminoacydurią |
| cs | Syndrom zahrnující kamptodaktylii a taurinurii | Familiární streblodaktylie s amino-acidurií |
| uk | Синдром камптодактилії-тауринурії | Сімейна стребродактилія з аміноацидурією |
| zh | 指屈曲-牛磺酸尿综合征 | 家族性指屈曲畸形-氨基酸尿症 |
| tr | Kamptodaktili-taurinüri sendromu | Ailesel streblodaktili aminoasitüri |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q68.1 | NTBT | attributed | validated |
| MONDO | 0015272 | E | validated | |
| MeSH | C537972 | E | validated | |
| UMLS | C4518792 | E | validated | |
| GARD | 1069 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (2):
- ORPHA:404577Genetic syndrome with limb malformations as a major feature
rare genetic diseases - ORPHA:109009Syndrome with limb malformations as a major feature
rare developmental anomalies during embryogenesis
No children.
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 17 cases | Worldwide | Case(s) | Validated | 16178082[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_16178082[PMID] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
HPO phenotypes
4 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0003355 | Aminoaciduria | |
| HP:0100490 | Camptodactyly of finger | |
| HP:0001836 | Camptodactyly of toe | |
| HP:0003166 | Increased urinary taurine | |
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/1325
- This record as JSON: /data/d/1325.json