Living with Diastrophic dysplasia
A condition of cartilage and bone development with short stature, joint problems, and curved feet and spine.
Understanding Diastrophic dysplasia
Most people have early-onset joint pain (osteoarthritis) and joint contractures that limit movement and make walking hard. They tend to worsen with age. Other features include clubfoot, curving of the spine, and hitchhiker thumbs. About half of infants have a cleft palate, and newborns often have swollen ears. Some babies have breathing problems.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Short stature with very short limbs
- Joint pain and stiff joints (contractures)
- Clubfoot
- Curving of the spine
- Hitchhiker thumbs
- Cleft palate (about half of babies)
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 SLC26A2 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
- 4Connect with expert centers
Little People of America may keep lists of experts for this condition.
Care & treatment
- Care team
- Bone and joint specialists (orthopedists or orthopedic surgeons); 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
Changes in the SLC26A2 gene cause this condition. It is autosomal recessive, so a child inherits a changed copy of the gene from each parent.
Also known as: dd - diastrophic dysplasia; diastrophic dwarf; diastrophic dwarfism; diastrophic dysplasia syndrome; diastrophic nanism syndrome; dtd
Patient organizations
- Little People of AmericaDiastrophic dysplasia · United States
You are more than your diagnosis
Perspectives from people navigating life with Diastrophic dysplasia.
Explore research for Diastrophic dysplasia
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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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