autosomal dominant spondylocostal dysostosis
Findings
No curated finding names autosomal dominant spondylocostal dysostosis yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Autosomal dominant spondylocostal dysostosis is a very rare and mild form of spondylocostal dysostosis characterized by vertebral and costal segmentation defects, often with a reduction in the number of ribs.
Definition from the Mondo Disease Ontology (MONDO:0015826), read 2026-09-29. CC BY 4.0.
Features
22 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.
- Intrauterine growth retardationHPOHP:0001511
- Very frequent (80% to 99% of cases)
- ScoliosisHPOHP:0002650
- Very frequent (80% to 99% of cases)
- Severe short statureHPOHP:0003510
- Very frequent (80% to 99% of cases)
- Vertebral segmentation defectHPOHP:0003422
- Very frequent (80% to 99% of cases)
- Anteverted naresHPOHP:0000463
- Frequent (30% to 79% of cases)
- HyperlordosisHPOHP:0003307
- Frequent (30% to 79% of cases)
- Prominent occiputHPOHP:0000269
- Frequent (30% to 79% of cases)
- Short neckHPOHP:0000470
- Frequent (30% to 79% of cases)
- Short thoraxHPOHP:0010306
- Frequent (30% to 79% of cases)
- Upslanted palpebral fissureHPOHP:0000582
- Frequent (30% to 79% of cases)
- Wide nasal bridgeHPOHP:0000431
- Frequent (30% to 79% of cases)
- Abnormal cardiovascular system morphologyHPOHP:0030680
- Occasional (5% to 29% of cases)
Show the remaining 10
- Abnormal morphology of female internal genitaliaHPOHP:0000008
- Occasional (5% to 29% of cases)
- Abnormal rib morphologyHPOHP:0000772
- Occasional (5% to 29% of cases)
- Abnormal sacrum morphologyHPOHP:0005107
- Occasional (5% to 29% of cases)
- Cleft palateHPOHP:0000175
- Occasional (5% to 29% of cases)
- MacrocephalyHPOHP:0000256
- Occasional (5% to 29% of cases)
- MicrocephalyHPOHP:0000252
- 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.
- TBX6HGNC:11605
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
Other names
2 names
Resolves to: autosomal dominant spondylocostal dysostosis
- Also called
- autosomal dominant spondylocostal dysplasiaspondylocostal dysostosis, autosomal dominant