Living with Pseudodiastrophic dysplasia
A very rare bone growth condition with short upper limbs, clubfeet, and joint dislocations, seen from birth.
Understanding Pseudodiastrophic dysplasia
It also involves dislocated elbow and finger joints, flattened spine bones, and scoliosis. It has been described in about 10 people. GARD says clubfoot can be treated with surgery, and physical therapy can ease contractures and scoliosis in newborns.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Short upper arms and thighs (rhizomelia)
- Clubfeet
- Elbow dislocation
- Flattened spine bones (platyspondyly)
- Scoliosis
- Flat cheekbones
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 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); 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
GARD says autosomal recessive inheritance has been suggested, meaning a child would inherit a changed copy of the gene from each parent. It doesn't name a gene.
Patient organizations
- Little People of AmericaPseudodiastrophic dysplasia · United States
You are more than your diagnosis
Perspectives from people navigating life with Pseudodiastrophic dysplasia.
Explore research for Pseudodiastrophic dysplasia
Explore actively recruiting Pseudodiastrophic dysplasia 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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