Overview
Popliteal pterygium syndrome (PPS), also known as popliteal web syndrome or facio-genito-popliteal syndrome, is a rare genetic condition that affects several parts of the body. The hallmark feature is a web of skin (called a pterygium) that stretches across the back of the knee, which can limit leg movement and make walking difficult. The condition is present at birth and can also cause cleft lip and/or cleft palate, bands of tissue (synechiae) connecting the upper and lower lips, abnormalities of the genitals, webbing of the fingers or toes (syndactyly), and unusual skin folds near the nails. Some individuals may also have missing or abnormal teeth. The severity of popliteal pterygium syndrome varies widely, even among members of the same family. Some people have mild symptoms that are mainly cosmetic, while others face significant challenges with mobility and feeding. Treatment is primarily surgical and focuses on correcting the specific problems each person has. Surgery to release the skin webs behind the knees can greatly improve leg movement and walking ability. Cleft lip and palate repair, dental work, and reconstructive procedures for genital abnormalities are also commonly needed. With appropriate surgical care and supportive therapies, many individuals with PPS can lead active and fulfilling lives. A team of specialists working together provides the best outcomes for patients.
Key symptoms:
Web of skin behind the knee limiting leg movementCleft lipCleft palateBands of tissue connecting the upper and lower lipsWebbing or fusion of fingers or toesAbnormal or missing teethGenital abnormalities in males and femalesSkin folds or pyramid-shaped tissue near the toenailsDifficulty walking or limited range of motion in the legsLower lip pits or moundsFeeding difficulties in infancyUnusual skin creases or foldsAnkyloblepharon (eyelids partially fused together at birth)
Autosomal dominant
Passed on from just one parent; each child has about a 50% chance of inheriting it
Neonatal
Begins at or shortly after birth (first 4 weeks)
Treatments
No FDA-approved treatments are currently listed for Popliteal 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 Popliteal 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.How severe is my child's popliteal pterygium syndrome, and which features need treatment first?,What surgeries will be needed, and what is the recommended timeline for each?,What are the risks of surgery to release the skin webs behind the knees?,Will my child need physical therapy, and for how long?,How will this condition affect my child's ability to walk, talk, and attend school?,Should other family members be tested for the IRF6 gene change?,What is the chance of passing this condition to future children?
Common questions about Popliteal pterygium syndrome
What is Popliteal pterygium syndrome?
Popliteal pterygium syndrome (PPS), also known as popliteal web syndrome or facio-genito-popliteal syndrome, is a rare genetic condition that affects several parts of the body. The hallmark feature is a web of skin (called a pterygium) that stretches across the back of the knee, which can limit leg movement and make walking difficult. The condition is present at birth and can also cause cleft lip and/or cleft palate, bands of tissue (synechiae) connecting the upper and lower lips, abnormalities of the genitals, webbing of the fingers or toes (syndactyly), and unusual skin folds near the nails.
How is Popliteal pterygium syndrome inherited?
Popliteal pterygium syndrome follows a autosomal dominant inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Popliteal pterygium syndrome typically begin?
Typical onset of Popliteal pterygium syndrome is neonatal. Age of onset can vary across affected individuals.
Which specialists treat Popliteal pterygium syndrome?
2 specialists and care centers treating Popliteal pterygium syndrome are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.