Overview
Lethal multiple pterygium syndrome (LMPS) is a very rare and severe condition that affects a baby before birth. It is sometimes called lethal pterygium syndrome or multiple pterygium syndrome, lethal type. The word 'pterygium' refers to webs or folds of skin that form across the joints, such as the neck, elbows, knees, and armpits. In this condition, these skin webs are so extensive that they severely restrict movement of the limbs and joints while the baby is still developing in the womb. Because the baby cannot move normally, many other problems develop, including fluid buildup (called hydrops fetalis), underdeveloped lungs, and abnormal facial features. The condition is almost always fatal either before birth (stillbirth) or very shortly after birth, which is why it is called 'lethal.' There is currently no cure or treatment that can reverse the condition. Care is focused on supporting families through the diagnosis, providing genetic counseling, and helping parents understand the risk of the condition occurring in future pregnancies. Families who receive this diagnosis are encouraged to work closely with a clinical geneticist and a maternal-fetal medicine specialist.
Key symptoms:
Webbing of skin across multiple joints (neck, elbows, knees, armpits, fingers)Severe restriction of joint movementFluid buildup throughout the baby's body (hydrops fetalis)Underdeveloped or poorly formed lungsAbnormal facial features including a small jaw and low-set earsCleft palate (opening in the roof of the mouth)Curved or fixed spine (scoliosis or rigid spine)Absent or reduced fetal movement in the wombSwelling of the skin (edema)Abnormally small head size (microcephaly) in some casesShortened or abnormally shaped limbsHeart defects in some casesStillbirth or death shortly after birth
Autosomal recessive
Passed on when both parents carry the same gene change; often skips generations
Neonatal
Begins at or shortly after birth (first 4 weeks)
Treatments
No FDA-approved treatments are currently listed for Lethal multiple pterygium syndrome.
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Specialists
View all specialists →No specialists are currently listed for Lethal multiple pterygium syndrome.
Treatment Centers
8 centersBaylor College of Medicine Rare Disease Center ↗
Baylor College of Medicine
📍 Houston, TX
🏥 NORDStanford Medicine Rare Disease Center ↗
Stanford Medicine
📍 Stanford, CA
🔬 UDNNIH Clinical Center Undiagnosed Diseases Program ↗
National Institutes of Health
📍 Bethesda, MD
🔬 UDNUCLA UDN Clinical Site ↗
UCLA Health
📍 Los Angeles, CA
🔬 UDNBaylor College of Medicine UDN Clinical Site ↗
Baylor College of Medicine
📍 Houston, TX
🔬 UDNHarvard/MGH UDN Clinical Site ↗
Massachusetts General Hospital
📍 Boston, MA
🏥 NORDMayo Clinic Center for Individualized Medicine ↗
Mayo Clinic
📍 Rochester, MN
👤 Mayo Clinic Center for Individualized Medicine
🏥 NORDUCLA Rare Disease Day Program ↗
UCLA Health
📍 Los Angeles, CA
Travel Grants
No travel grants are currently matched to Lethal multiple pterygium syndrome.
Community
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Caregiver Resources
NORD Caregiver Resources
Support, advocacy, and financial assistance for caregivers of rare disease patients.
Mental Health Support
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Family & Caregiver Grants
Financial assistance programs specifically for caregivers of rare disease patients.
Social Security Disability
Learn how rare disease patients may qualify for SSDI/SSI benefits.
Questions for your doctor
Bring these to your next appointment
- Q1.What gene or genes caused this condition in our baby, and what does that mean for future pregnancies?,What is the chance that this could happen again in a future pregnancy?,What prenatal testing options are available to us if we decide to try for another pregnancy?,Is preimplantation genetic testing (PGT) during IVF an option for our family?,Should other family members be tested to see if they carry the same gene change?,What support services — such as grief counseling or support groups — are available to us?,Are there any research studies or registries we should know about for this condition?
Common questions about Lethal multiple pterygium syndrome
What is Lethal multiple pterygium syndrome?
Lethal multiple pterygium syndrome (LMPS) is a very rare and severe condition that affects a baby before birth. It is sometimes called lethal pterygium syndrome or multiple pterygium syndrome, lethal type. The word 'pterygium' refers to webs or folds of skin that form across the joints, such as the neck, elbows, knees, and armpits. In this condition, these skin webs are so extensive that they severely restrict movement of the limbs and joints while the baby is still developing in the womb. Because the baby cannot move normally, many other problems develop, including fluid buildup (called hydro
How is Lethal multiple pterygium syndrome inherited?
Lethal multiple pterygium syndrome follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Lethal multiple pterygium syndrome typically begin?
Typical onset of Lethal multiple pterygium syndrome is neonatal. Age of onset can vary across affected individuals.