Living with Spondylocostal dysostosis
A group of genetic conditions that affect how the spine and ribs form, leading to a short trunk.
Understanding Spondylocostal dysostosis
The spine bones (vertebrae) are misshapen and fused, and some ribs may be fused or missing. These differences are present from birth. People have a short, stiff neck and a short torso, but arms and legs of normal length. The small chest can cause breathing problems in infants. Some people also have a neural tube defect, which is a gap in the early development of the brain and spinal cord.
Signs & symptoms
Symptoms vary from person to person. GARD describes these features:
- Misshapen, fused spine bones
- Side-to-side curve of the spine (scoliosis)
- Fused or missing ribs
- Short, rigid neck and short torso
- Small chest and breathing problems
- Soft bulge in the lower belly (inguinal hernia)
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
Your doctor may refer you to a specialist who knows rare conditions.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
Care & treatment
- Care team
- A doctor familiar with rare conditions, plus specialists as needed
- 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
GARD doesn't describe a cause for this condition yet.
Also known as: costovertebral dysplasia; spondylocostal dysplasia; spondylothoracic dysplasia
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 Spondylocostal dysostosis.
Explore research for Spondylocostal dysostosis
Explore actively recruiting Spondylocostal dysostosis studies with HealthSpark.
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- Recruiting studies from ClinicalTrials.gov
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- Eligibility is confirmed by the study team
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Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
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