Overview
Multiple pterygium syndrome (MPS) is a rare genetic condition that affects the body's connective tissues, joints, and skin. The word 'pterygium' refers to web-like folds of skin, called pterygia, that form across joints such as the neck, elbows, knees, armpits, and fingers. These skin webs limit the range of motion in the affected joints, making it difficult to fully straighten or bend them. The condition is also known as pterygium syndrome or multiple pterygium syndrome, Escobar type, when referring to the non-lethal form. There are two main forms of this condition. The milder form, called Escobar syndrome or multiple pterygium syndrome Escobar type, is present at birth and allows survival into adulthood. The more severe form, called lethal multiple pterygium syndrome, causes life-threatening complications before or shortly after birth, including severe joint contractures, fluid buildup (hydrops), and underdeveloped lungs. In the Escobar type, affected individuals may also have a short stature, curvature of the spine (scoliosis), distinctive facial features such as a small jaw and drooping eyelids, and differences in the development of the genitals. Some people may have mild muscle weakness. Intelligence is usually normal. There is no cure for multiple pterygium syndrome. Treatment focuses on managing symptoms through physical therapy, orthopedic surgery to release joint contractures, and supportive care to improve mobility and quality of life. Early intervention with therapy can help maximize joint function.
Key symptoms:
Web-like skin folds across joints (neck, elbows, knees, armpits, fingers)Limited joint movement (joint contractures)Short statureCurvature of the spine (scoliosis)Small jaw (micrognathia)Drooping eyelids (ptosis)Downward-slanting eyesLow-set earsFused or webbed fingers or toesUndescended testes in malesGenital differencesCleft palateMild muscle weaknessFlat facial profileRestricted lung development in severe cases
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 Multiple pterygium syndrome.
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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 Multiple pterygium syndrome.
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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.Which type of multiple pterygium syndrome does my child have, and what does that mean for their future?,Which joints are most affected, and what can be done to improve their movement?,When should we consider surgery for the skin webs or scoliosis?,What therapies should we start right away to help with mobility?,Are there any complications we should watch for as my child grows?,Should other family members be tested for the gene change?,Are there any clinical trials or new treatments being studied for this condition?
Common questions about Multiple pterygium syndrome
What is Multiple pterygium syndrome?
Multiple pterygium syndrome (MPS) is a rare genetic condition that affects the body's connective tissues, joints, and skin. The word 'pterygium' refers to web-like folds of skin, called pterygia, that form across joints such as the neck, elbows, knees, armpits, and fingers. These skin webs limit the range of motion in the affected joints, making it difficult to fully straighten or bend them. The condition is also known as pterygium syndrome or multiple pterygium syndrome, Escobar type, when referring to the non-lethal form. There are two main forms of this condition. The milder form, called E
How is Multiple pterygium syndrome inherited?
Multiple pterygium syndrome follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Multiple pterygium syndrome typically begin?
Typical onset of Multiple pterygium syndrome is neonatal. Age of onset can vary across affected individuals.
Which specialists treat Multiple pterygium syndrome?
7 specialists and care centers treating Multiple pterygium syndrome are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.