Living with Rolland-Debuqois syndrome
A rare bone condition affecting the growth of the spine and limbs before birth, often with breathing problems after birth.
Understanding Rolland-Debuqois syndrome
It causes short arms and legs and large differences in the size and shape of the spine bones. Many babies have trouble soon after birth, including breathing problems. It is noticed during pregnancy or in newborns.
Signs & symptoms
GARD doesn't list specific symptoms for this condition. Its summary describes these:
- Short arms and legs
- Differences in size and shape of spine bones
- Breathing problems after birth
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.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
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 autosomal recessive, so a child inherits a changed copy of a gene from each parent. GARD does not name a gene.
Also known as: ddrd; dyssegmental dysplasia - rolland-desbuquois type; dyssegmental dysplasia, rolland-desbuquois type
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 Rolland-Debuqois syndrome.
Explore research for Rolland-Debuqois syndrome
Explore actively recruiting Rolland-Debuqois syndrome studies with HealthSpark.
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- Recruiting studies from ClinicalTrials.gov
- Share your city to look for research near you
- 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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