Living with Popliteal pterygium syndrome
A condition present from birth that affects the face, skin and genitals, with cleft lip or palate and skin webs behind the knees.
Understanding Popliteal pterygium syndrome
Most people are born with a cleft lip, a cleft palate or both. Some have pits in the lower lip, missing teeth, and webs of skin across the backs of the knees that can limit movement unless removed by surgery. Webbed or fused fingers or toes and genital differences can occur. GARD says the average IQ is not significantly different from the general population, though cleft lip or palate can raise the chance of language delay or learning issues.
Signs & symptoms
GARD doesn't list a symptom list for this condition. It describes these features:
- Cleft lip, cleft palate or both
- Pits or small mounds on the lower lip
- Webs of skin behind the knees
- Webbed or fused fingers or toes
- Missing teeth
- Genital differences
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, ear, nose, and throat specialists, eye disease 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
World Craniofacial Foundation may keep lists of experts for this condition.
Care & treatment
- Care team
- Bone and joint specialists (orthopedists or orthopedic surgeons); Ear, nose, and throat specialists (otolaryngologists); Eye disease specialists (ophthalmologists); Genetic specialists (geneticists)
- Expert care
- Expert lists: World Craniofacial Foundation
- 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 World Craniofacial Foundation 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
GARD says changes in genes cause this condition but doesn't name a gene. It is autosomal dominant, meaning one changed copy of the gene is enough.
Also known as: facio-genito-popliteal syndrome; pps
Patient organizations
- World Craniofacial FoundationCraniofacial anomalies · United States
- Children's Craniofacial AssociationCraniofacial anomalies · United States
- FACES: The National Craniofacial AssociationCraniofacial anomalies · United States
- myFaceCraniofacial anomalies · United States
You are more than your diagnosis
Perspectives from people navigating life with Popliteal pterygium syndrome.
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