Living with Lethal multiple pterygium syndrome
A very rare inherited condition affecting the skin, muscles, and bones, with skin webbing and stiff joints that begins before birth.
Understanding Lethal multiple pterygium syndrome
It is marked by minor facial differences, slow growth before birth, spine differences, joint contractures, and webbing of the skin (pterygia) at the neck, elbows, backs of the knees, armpits, and fingers. It is noticed during pregnancy.
Signs & symptoms
GARD doesn't list a symptom list for this condition. Its summary describes these features:
- Webbing of the skin (pterygia)
- Joint contractures
- Spine differences
- Slow growth before birth
- Minor facial differences
- Bone fusions and dislocated 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 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.
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 CHRNG, CHRNA1, and CHRND genes have been found to cause it. Both autosomal recessive and X-linked inheritance have been proposed.
Also known as: autosomal recessive lethal multiple pterygium syndrome; lmps
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 Lethal multiple pterygium syndrome.
Explore research for Lethal multiple pterygium 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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