Living with Boomerang dysplasia
A rare genetic bone condition present at birth with very short, bowed limbs and an underdeveloped rib cage.
Understanding Boomerang dysplasia
Babies are born with clubfeet and dislocated hips, knees, and elbows. Spine, ribs, pelvis, and limb bones may be underdeveloped or absent, leading to very short arms and legs. The thigh bones are bowed into a boomerang shape. Some have a sac-like bulge of the brain (encephalocele) or an opening in the belly wall (omphalocele). The rib cage is small, which affects lung development.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Very short arms and legs
- Bowed thigh bones
- Clubfeet and dislocated joints
- Narrow chest
- Underdeveloped lungs
- Opening in the belly wall (omphalocele)
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 FLNB 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 FLNB gene cause this condition. It is autosomal dominant, so one changed copy of the gene is enough.
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 Boomerang dysplasia.
Explore research for Boomerang dysplasia
Explore actively recruiting Boomerang dysplasia 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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