VACTERL with hydrocephalus
Findings
No curated finding names VACTERL with hydrocephalus yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
VACTERL is an acronym for Vertebral anomalies, Anal atresia, Congenital cardiac disease, tracheoesophageal fistula, Renal anomalies, and Limb defects. VACTERL associated with hydrocephalus has rarely been reported and is thought to be an autosomal recessive anomaly. The condition is described as a uniformly lethal or developmentally devastating disorder distinct from the VATER association.
Definition from the Mondo Disease Ontology (MONDO:0010172), read 2026-09-29. CC BY 4.0.
Features
33 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.
- Abnormal optic nerve morphologyHPOHP:0000587
- Very frequent (80% to 99% of cases)
- Anal atresiaHPOHP:0002023
- Very frequent (80% to 99% of cases)
- Aqueductal stenosisHPOHP:0002410
- Very frequent (80% to 99% of cases)
- Esophageal atresiaHPOHP:0002032
- Very frequent (80% to 99% of cases)
- HydrocephalusHPOHP:0000238
- Very frequent (80% to 99% of cases)
- Intellectual disabilityHPOHP:0001249
- Very frequent (80% to 99% of cases)
Show the remaining 21
- Abnormal cardiovascular system morphologyHPOHP:0030680
- Frequent (30% to 79% of cases)
- Abnormal vertebral body morphologyHPOHP:0003312
- Frequent (30% to 79% of cases)
- HemivertebraeHPOHP:0002937
- Frequent (30% to 79% of cases)
- Hypoplasia of the radiusHPOHP:0002984
- Frequent (30% to 79% of cases)
- Abnormal fallopian tube morphologyHPOHP:0011027
- Occasional (5% to 29% of cases)
- Abnormality of the outer earHPOHP:0000356
- Occasional (5% to 29% of cases)
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.
- FANCBHGNC:3583
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
- A kind of
- Narrower terms (1)
Other names
1 name
Resolves to: VACTERL with hydrocephalus
- Also called
- Sujansky-Leonard syndrome