Living with Pelviscapular dysplasia
A rare bone condition with short height at birth, an unusual facial look, and differences in the shoulder blades and hips.
Understanding Pelviscapular dysplasia
Babies are short at birth and have an unusual facial look. Intelligence ranges from normal to moderately delayed. GARD says changes in the TBX15 gene are suggested as the cause. Signs are noticed in newborns and infants.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Small shoulder blades
- Small hip bones (ilia)
- Hip dislocation present from birth
- Stiff elbows
- Large head (macrocephaly)
- Short neck
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 TBX15 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
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
Changes in the TBX15 gene have been suggested as the cause. The condition is autosomal recessive, which means a child inherits a changed copy of the gene from each parent.
Also known as: cousin syndrome; familial pelvis-scapular dysplasia; pelviscapular dysplasia syndrome
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 Pelviscapular dysplasia.
Explore research for Pelviscapular dysplasia
Explore actively recruiting Pelviscapular dysplasia studies with HealthSpark.
Find actively recruiting studies for Pelviscapular dysplasia with HealthSpark. Share your city to explore research near you.
- 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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