Familial caudal dysgenesis
Synonyms: Rudd-Klimek syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare, genetic, developmental defect during embryogenesis disorder characterized by varying degrees of caudal dysgenesis, ranging from a single umbilical artery or imperforate anus to full sirenomelia, in several members of the same family. Phenotype includes lumbosacral agenesis, anal atresia or ectopia, genitourinary abnormalities, components of VATER or VACTERL association, and facial dysmorphism (flat facies, abnormal ears, bilateral epicanthic folds, depressed nasal bridge, micrognathia). Additional features reported include cardiovascular (e.g. endocardial cushion defect, hypoplasia of pulmonary artery) and skeletal (kyphosis, hemipelvis) anomalies.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Familial caudal dysgenesis | Rudd-Klimek syndrome |
| fr | Dysgénésie caudale familiale | Syndrome de Rudd-Klimek |
| de | Dysgenesie, familiäre kaudale | Rudd-Klimek-Syndrom |
| es | Disgenesia caudal familiar | Síndrome de Rudd-Klimek |
| it | Disgenesia caudale familiare | Sindrome di Rudd-Klimek |
| nl | Familiale caudale dysgenesie | Syndroom van Rudd-Klimek |
| pt | Disgenesia caudal familiar | Síndrome Rudd-Klimek |
| pl | Rodzinna dysgeneza kaudalna | Zespół Rudda i Klimeka |
| cs | Familiární kaudální dysgeneze | Ruddův-Klimekův syndrom · Rudd-Klimekův syndrom |
| uk | Сімейна каудальна дисгенезія | Синдром Радда-Клімека |
| zh | 家族性尾骨发育不良 | Rudd-Klimek 综合征 |
| tr | Ailesel kaudal disgenezi | Rudd-Klimek sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| MONDO | 0010831 | E | validated | |
| MeSH | C535879 | E | validated | |
| UMLS | C2931053 | E | validated | |
| GARD | 215 | 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 (3):
- ORPHA:444941Caudal regression-sirenomelia spectrum
rare developmental anomalies during embryogenesis; rare genetic diseases; rare abdominal surgical diseases; rare urogenital diseases; rare transplant-related disorders - ORPHA:269564Genetic syndrome with a central nervous system malformation as a major feature
rare genetic diseases - ORPHA:269531Other syndrome with a central nervous system malformation as a major feature
rare developmental anomalies during embryogenesis; rare neurological diseases
No children.
Codes that Orphanet moved or referred to this one:
- ORPHA:1850Renal dysplasia-megalocystis-sirenomelia syndrome moved to · inactive
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_2225526[PMID] |
| Cases/families | 4 cases | Worldwide | Case(s) | Validated | 2225526[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
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/1768
- This record as JSON: /data/d/1768.json