Living with Patterson-Stevenson-Fontaine syndrome
A very rare condition affecting the face bones, ears, and feet, present from birth.
Understanding Patterson-Stevenson-Fontaine syndrome
People have abnormal development of the bones and tissues of the face (mandibulofacial dysostosis), such as a small, set-back jaw, cleft palate, and ear differences. In the feet, toes may be missing, split, or fused (ectrodactyly, also called split-foot). Signs begin before birth and in newborns.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Face bone differences (mandibulofacial dysostosis)
- Small lower jaw (micrognathia)
- Cleft palate
- Differently shaped or large ears
- Split foot (ectrodactyly)
- Fused toes (syndactyly)
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 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
American Cleft Palate Craniofacial Association may keep lists of experts for this condition.
Care & treatment
- Care team
- Bone and joint specialists (orthopedists or orthopedic surgeons); Genetic specialists (geneticists)
- Expert care
- Expert lists: American Cleft Palate Craniofacial Association
- 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
Changes in the genes (also called variants) cause this condition. It is autosomal dominant, which means one changed copy of the gene is enough to cause it. GARD doesn't list a specific gene.
Also known as: patterson stevenson fontaine syndrome; patterson-stevenson syndrome; split foot deformity with mandibulofacial dysostosis syndrome; split foot deformity-mandibulofacial dysostosis syndrome; split-foot deformity with ectrodactyly and mandibulofacial dysostosis; split-foot deformity with mandibulofacial dysostosis
Patient organizations
- American Cleft Palate Craniofacial AssociationPatterson-Stevenson-Fontaine syndrome · United States
- FACES: The National Craniofacial AssociationPatterson-Stevenson-Fontaine syndrome · United States
You are more than your diagnosis
Perspectives from people navigating life with Patterson-Stevenson-Fontaine syndrome.
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