Living with Larsen-like syndrome, B3GAT3 type
A rare genetic bone condition with loose, dislocated joints, short height, foot differences, and heart differences.
Understanding Larsen-like syndrome, B3GAT3 type
People may have contractures, clubfeet, broad finger and toe tips, a short neck, and distinctive facial features. Various heart differences can occur. In severe disease, there can be multiple fractures, thin bones, and blue-tinted whites of the eyes. Other reported features include scoliosis, fused forearm bones, mild developmental delay, and eye conditions such as glaucoma. It is noticed in newborns and infants.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Loose, dislocated joints
- Short stature
- Clubfeet and flat feet
- Fused forearm bones
- Early closing of skull bones (craniosynostosis)
- Low muscle tone and delayed motor skills
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, genetic specialists and heart and blood vessel specialists.
- 3Consider genetic testing
Changes in B3GAT3 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
- autoimmune and inflammatory disease specialists (rheumatologists); Bone and joint specialists (orthopedists or orthopedic surgeons); Genetic specialists (geneticists); Heart and blood vessel specialists (cardiologists)
- 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 B3GAT3 gene cause this condition. It is autosomal recessive, meaning a child inherits a changed copy of the gene from each parent.
Also known as: larsen syndrome, autosomal recessive; multiple joint dislocations-short stature-craniofacial dysmorphism-congenital heart defects syndrome; multiple joint dislocations, short stature, and craniofacial dysmorphism with or without congenital heart defects; multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects
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 Larsen-like syndrome, B3GAT3 type.
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