Living with Desbuquois syndrome
A rare condition of bone and cartilage development, with short stature, very loose joints, and distinct facial features.
Understanding Desbuquois syndrome
Features vary in severity. They can include short stature with short arms and legs, very loose joints that dislocate, thin bones, a curved spine, and distinct facial features. Type 1 has characteristic hand differences and type 2 does not. A variant form called Kim variant has been described in 7 people from Korea and Japan.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Short stature
- Very loose joints that can dislocate
- Bell-shaped chest
- Bulging eyes
- Advanced bone age
- Backward-bending knees
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 autoimmune and inflammatory disease specialists, bone and joint specialists, eye disease specialists and genetic specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
- 4Connect with expert centers
Little People of America may keep lists of experts for this condition.
Care & treatment
- Care team
- autoimmune and inflammatory disease specialists (rheumatologists); Bone and joint specialists (orthopedists or orthopedic surgeons); Eye disease specialists (ophthalmologists); Genetic specialists (geneticists)
- Expert care
- Expert lists: Little People of America
- 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 Little People of America
- 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
Type 1 and the Kim variant are caused by changes in the CANT1 gene. Some cases of type 2 are caused by changes in the XYLT1 gene, and in others the cause is unknown. It is autosomal recessive, so a child inherits a changed copy of the gene from each parent.
Also known as: dbqd; desbuquois dysplasia; micromelic dwarfism with vertebral and metaphyseal abnormalities and advanced carpotarsal ossification
Patient organizations
- Little People of AmericaDesbuquois syndrome · United States
You are more than your diagnosis
Perspectives from people navigating life with Desbuquois syndrome.
Explore research for Desbuquois syndrome
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Find actively recruiting studies for Desbuquois syndrome with HealthSpark. Share your city to explore research near you.
- 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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