spondylocarpotarsal synostosis syndrome
Findings
No curated finding names spondylocarpotarsal synostosis syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Spondylocarpotarsal synostosis (SCT) syndrome is a skeletal dysplasia clinically characterized by postnatal progressive vertebral fusions frequently manifesting as block vertebrae, contributing to an undersized trunk and a disproportionate short stature, scoliosis, lordosis, carpal and tarsal synostosis, with club feet and a mild facial dysmorphism.
Definition from the Mondo Disease Ontology (MONDO:0010094), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
HPO, annotations 2026-09-02
Features
19 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.
- Carpal synostosisHPOHP:0009702
- Frequent (30% to 79% of cases)
- Disproportionate short statureHPOHP:0003498
- Frequent (30% to 79% of cases)
- Enamel hypoplasiaHPOHP:0006297
- Frequent (30% to 79% of cases)
- Hearing impairmentHPOHP:0000365
- Frequent (30% to 79% of cases)
- Intervertebral space narrowingHPOHP:0002945
- Frequent (30% to 79% of cases)
- Lumbar hyperlordosisHPOHP:0002938
- Frequent (30% to 79% of cases)
- Pectus carinatum
Show the remaining 7
- Delayed ossification of carpal bonesHPOHP:0001216
- Occasional (5% to 29% of cases)
- Delayed skeletal maturationHPOHP:0002750
- Occasional (5% to 29% of cases)
- Frontal bossingHPOHP:0002007
- Occasional (5% to 29% of cases)
- Pes planusHPOHP:0001763
- Occasional (5% to 29% of cases)
- Short neckHPOHP:0000470
- Occasional (5% to 29% of cases)
- Abnormal retinal pigmentationHPOHP:0007703
- Very rare (1% to 4% of cases)
Genes
2 genes
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.
- FLNBHGNC:3755
- Definitive · G2P · Autosomal recessive · 2023
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2021
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal recessive · 2021
- MYH3HGNC:7573
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
5 names
Resolves to: spondylocarpotarsal synostosis syndrome
- Also called
- SCTspondylocarpotarsal syndromespondylocarpotarsal synostosisSynspondylismvertebral fusion with carpal coalition