Living with Bartsocas-Papas syndrome 1
A rare inherited condition with skin webbing behind the knees, facial clefts, and differences in the hands, feet, and skin.
Understanding Bartsocas-Papas syndrome 1
It includes a small head, fused eyelids, a small nose, facial clefts, fused or missing fingers and toes, and genital differences. It also affects skin and hair, with missing hair, eyebrows, lashes, and nails. Signs are seen during pregnancy and in the newborn period.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Skin webs behind the knees (popliteal pterygium)
- Small head size (microcephaly)
- Cleft palate and cleft lip
- Eyelids that stick together
- Fused or missing fingers and toes
- Missing hair, eyebrows, and eyelashes
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.
- 3Consider genetic testing
Changes in RIPK4 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
World Craniofacial Foundation and National Foundation for Ectodermal Dysplasias 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, National Foundation for Ectodermal Dysplasias
- 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
It is caused by changes in the RIPK4 gene. It is autosomal recessive, so a child inherits a changed copy of the gene from each parent.
Also known as: autosomal recessive popliteal pterygium syndrome; bartsocas papas syndrome; bartsocas-papas syndrome; lethal popliteal pterygium syndrome; multiple pterygium syndrome, aslan type; popliteal pterygium syndrome, bartsocas-papas type 1
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
- National Foundation for Ectodermal DysplasiasEctodermal dysplasias · United States
- Children's Skin Disease FoundationSkin diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Bartsocas-Papas syndrome 1.
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