Living with Larsen syndrome
A genetic condition affecting bone development, with dislocated joints from birth, foot differences, and distinctive facial features.
Understanding Larsen syndrome
Signs vary widely, even in the same family. People are usually born with dislocated hips, knees, or elbows, and clubfeet are common. Fingertips, especially thumbs, are blunt and square. Facial features include a prominent forehead and flattened nasal bridge, and many have a cleft palate. Other features include hearing loss, short stature, spine curves, and breathing problems. Heart and kidney problems can occur. Intellectual function is usually unaffected.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Dislocated hips, knees, or elbows
- Clubfeet
- Broad, blunt thumbs and fingertips
- Prominent forehead and flat midface
- Wide-set eyes
- Very flexible joints
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, ear, nose, and throat 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.
- 4Connect with expert centers
Little People of America and World Craniofacial Foundation 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); Ear, nose, and throat specialists (otolaryngologists); Genetic specialists (geneticists)
- Expert care
- Expert lists: Little People of America, World Craniofacial Foundation
- 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 and other patient organizations
- 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, meaning one changed copy of the gene is enough to cause it.
Also known as: bilateral dislocation of the knees, pes cavus, cylindrically shaped fingers and characteristic facies; dominant larsen syndrome; lrs
Patient organizations
- Little People of AmericaLarsen syndrome · United States
- FACES: The National Craniofacial AssociationLarsen syndrome · United States
- The MAGIC FoundationLarsen syndrome · United States
- World Craniofacial FoundationCraniofacial anomalies · United States
- Children's Craniofacial AssociationCraniofacial anomalies · United States
- myFaceCraniofacial anomalies · United States
You are more than your diagnosis
Perspectives from people navigating life with Larsen syndrome.
Explore research for Larsen syndrome
Explore actively recruiting Larsen syndrome 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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