spondylocostal dysostosis 3, autosomal recessive
Findings
No curated finding names spondylocostal dysostosis 3, 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 LFNG gene.
Definition from the Mondo Disease Ontology (MONDO:0012349), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Congenital onset
HPO, annotations 2026-09-02
Features
6 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.
- Contracture of the proximal interphalangeal joint of the 2nd fingerHPOHP:0009540
- 1 of 1 reported patient
- ScoliosisHPOHP:0002650
- 1 of 1 reported patient
- Short statureHPOHP:0004322
- 1 of 1 reported patient
- Slender fingerHPOHP:0001238
- 1 of 1 reported patient · Congenital onset
- Supernumerary vertebral ossification centersHPOHP:0004598
- 1 of 1 reported patient
- Vertebral segmentation defectHPOHP:0003422
- 1 of 1 reported patient
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.
- LFNGHGNC:6560
- Definitive · G2P · Autosomal recessive · 2025
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2019
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Moderate · Ambry Genetics · Autosomal recessive · 2023
Where it sits
Other names
2 names
Resolves to: spondylocostal dysostosis 3, autosomal recessive
- Also called
- autosomal recessive spondylocostal dysostosis caused by mutation in LFNGLFNG autosomal recessive spondylocostal dysostosis