Living with Congenital elevation of scapula
A rare condition present from birth in which one shoulder blade is small and sits higher than usual.
Understanding Congenital elevation of scapula
The shoulder blade did not move down to its usual place during development. It usually affects one side. It may go with other differences, such as spine bone differences, fused or missing ribs, or urinary and genital differences. It is seen before birth, at birth and in infancy.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Shoulder blade sitting high
- Underdeveloped shoulder muscle
- Short neck
- Wry neck (torticollis)
- Cleft palate, in some
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 lung and breathing specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
Care & treatment
- Care team
- Lung and breathing specialists (pulmonologists)
- 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
GARD doesn't name a gene here. It is inherited in an autosomal dominant pattern.
Also known as: congenital, upward displacement of the scapula; high scapula; high shoulder blade; sprengel anomaly; sprengel deformity; sprengel deformity (disease)
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 Congenital elevation of scapula.
Explore research for Congenital elevation of scapula
Explore actively recruiting Congenital elevation of scapula studies with HealthSpark.
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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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