Living with Autosomal dominant popliteal pterygium syndrome
A genetic condition that affects the face, skin, and genitals, often with a cleft lip or palate.
Understanding Autosomal dominant popliteal pterygium syndrome
Most people with it are born with a cleft lip, a cleft palate, or both. Other features can include lip pits, skin webs behind the knees, and webbed or fused fingers or toes. There is no growth delay, and intelligence is usually normal.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Cleft palate
- Cleft lip
- Pits in the lower lip (lip pits)
- Skin webs behind the knees (popliteal pterygium)
- Fused fingers or toes (syndactyly)
- Small lower jaw (micrognathia)
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, brain and nervous system specialists, ear, nose, and throat specialists and eye disease specialists.
- 3Consider genetic testing
Changes in IRF6 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
- 4Connect with expert centers
American Cleft Palate Craniofacial Association and World Craniofacial Foundation may keep lists of experts for this condition.
Care & treatment
- Care team
- Bone and joint specialists (orthopedists or orthopedic surgeons); Brain and nervous system specialists (neurologists); Ear, nose, and throat specialists (otolaryngologists); Eye disease specialists (ophthalmologists)
- Expert care
- Expert lists: American Cleft Palate Craniofacial Association, 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 American Cleft Palate Craniofacial Association 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
It is caused by changes in the IRF6 gene. It is autosomal dominant, so a change in one copy of the gene can cause it.
Also known as: cleft lip/palate, paramedian mucous cysts of the lower lip, popliteal pterygium, digital and genital anomalies; faciogenitopopliteal syndrome; popliteal pterygium syndrome 1; popliteal pterygium syndrome, autosomal dominant; popliteal web syndrome
Patient organizations
- American Cleft Palate Craniofacial AssociationAutosomal dominant popliteal pterygium syndrome · United States
- 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 Autosomal dominant popliteal pterygium syndrome.
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