Living with Lethal Larsen-like syndrome
A rare inherited condition with several loose or dislocated joints, a flat face, and small, soft lungs and airway.
Understanding Lethal Larsen-like syndrome
Features include a flat face, unusual palm creases, a floppy windpipe (laryngotracheomalacia), and small lungs. Some babies also have a split tongue, a small jaw, fluid buildup before birth (hydrops fetalis), and brain differences. It is noticed in newborns.
Signs & symptoms
GARD doesn't list a symptom list for this condition. Its summary describes these features:
- Multiple joint dislocations
- Flat face
- Unusual palm creases
- Floppy windpipe (laryngotracheomalacia)
- Small lungs (pulmonary hypoplasia)
- Small jaw (micrognathia)
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 and genetic specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
- 4Connect with expert centers
Little People of America 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); Genetic specialists (geneticists)
- Expert care
- Expert lists: Little People of America
- 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
A child inherits a changed copy of the gene from each parent (autosomal recessive). GARD does not name a gene.
Patient organizations
- Little People of AmericaLethal Larsen-like syndrome · United States
- The MAGIC FoundationLethal Larsen-like syndrome · United States
You are more than your diagnosis
Perspectives from people navigating life with Lethal Larsen-like syndrome.
Explore research for Lethal Larsen-like syndrome
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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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