Living with Autosomal dominant spondylocostal dysostosis
A very rare, mild genetic condition of the spine and ribs.
Understanding Autosomal dominant spondylocostal dysostosis
The bones of the spine (vertebrae) and ribs do not separate properly as they form. Often there are fewer ribs than usual. Other features can include scoliosis, a short neck, and short height.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Spine bones that did not form normally
- Scoliosis (curved spine)
- Severe short stature
- Short neck
- Short chest area (short thorax)
- Swayback (hyperlordosis)
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include bone and joint specialists and genetic specialists.
- 3Consider genetic testing
Changes in TBX6 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
Care & treatment
- Care team
- Bone and joint specialists (orthopedists or orthopedic surgeons); Genetic specialists (geneticists)
- Expert care
- Ask about multidisciplinary care centers for rare conditions
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with rare disease patient organizations for support
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
It is caused by changes in the TBX6 gene. It is autosomal dominant, so a change in one copy of the gene can cause it.
Also known as: autosomal dominant spondylocostal dysplasia; spondylocostal dysostosis, autosomal dominant
Patient organizations
Rare-disease groups that can help
- Global GenesRare Diseases · United States
- National Organization for Rare DisordersRare Diseases · United States
- Genetic AllianceRare Diseases · United States
- RARE FoundationRare Diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Autosomal dominant spondylocostal dysostosis.
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