spondylocostal dysostosis 4, autosomal recessive
Findings
No curated finding names spondylocostal dysostosis 4, autosomal recessive yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any autosomal recessive spondylocostal dysostosis in which the cause of the disease is a mutation in the HES7 gene.
Definition from the Mondo Disease Ontology (MONDO:0013366), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Congenital onset
HPO, annotations 2026-09-02
Features
24 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.
- Anal stenosisHPOHP:0002025
- 1 of 1 reported patient
- Aplasia of posterior communicating arteryHPOHP:0034566
- 2 of 2 reported patients
- Bell-shaped thoraxHPOHP:0001591
- 1 of 1 reported patient
- Chiari type II malformationHPOHP:0025660
- 1 of 1 reported patient
- Ectopic anusHPOHP:0004397
- 1 of 1 reported patient
- HemivertebraeHPOHP:0002937
- 2 of 2 reported patients
- HydrocephalusHPOHP:0000238
Show the remaining 12
- Short thoraxHPOHP:0010306
- 1 of 1 reported patient
- Vertebral artery hypoplasiaHPOHP:0030322
- 2 of 2 reported patients
- Vertebral fusionHPOHP:0002948
- 1 of 1 reported patient
- Vertebral segmentation defectHPOHP:0003422
- 3 of 3 reported patients
- Rib fusionHPOHP:0000902
- 2 of 3 reported patients
- Short statureHPOHP:0004322
- 2 of 3 reported patients
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.
- HES7HGNC:15977
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2019
- Strong · PanelApp Australia · Autosomal recessive · 2025
Where it sits
Other names
2 names
Resolves to: spondylocostal dysostosis 4, autosomal recessive
- Also called
- autosomal recessive spondylocostal dysostosis caused by mutation in HES7HES7 autosomal recessive spondylocostal dysostosis