familial caudal dysgenesis
Findings
No curated finding names familial caudal dysgenesis yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Familial caudal dysgenesis is 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.
Definition from the Mondo Disease Ontology (MONDO:0010831), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Congenital onset
HPO, annotations 2026-09-02
Features
7 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.
- Bilateral talipes equinovarusHPOHP:0001776
- 1 of 4 reported patients
- Dermal sinus tractHPOHP:0020223
- 1 of 4 reported patients
- HydrocephalusHPOHP:0000238
- 1 of 4 reported patients
- HydromyeliaHPOHP:0100565
- 1 of 4 reported patients
- MyelomeningoceleHPOHP:0002475
- 1 of 4 reported patients
- MyeloschisisHPOHP:0030708
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- VANGL1HGNC:15512
- Limited · PanelApp Australia · Autosomal dominant · 2025
Where it sits
- Narrower terms (1)
Other names
2 names
Resolves to: familial caudal dysgenesis
- Also called
- caudal regressionRudd-Klimek syndrome