Living with Jackson-Weiss syndrome
A genetic condition with foot differences and early joining of skull bones that shapes the head and face.
Understanding Jackson-Weiss syndrome
The early fusion keeps the skull from growing normally. It can cause a misshapen skull, widely spaced eyes, and a bulging forehead. Foot differences are the most consistent feature, and hands are almost always normal. Some people have hearing loss. People usually have normal intelligence. It is seen in newborns.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Short, wide big toes that bend outward
- Fused toes (syndactyly)
- Early fusion of skull bones (craniosynostosis)
- Wide-set eyes
- Bulging forehead
- Hearing loss in some people
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
World Craniofacial Foundation 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: 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 Craniosynostosis and Positional Plagiocephaly Support Inc 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 (also called variants) cause this condition. It is autosomal dominant, meaning one changed copy of the gene is enough.
Also known as: craniosynostosis-midfacial hypoplasia-foot abnormalities syndrome; craniosynostosis, midfacial hypoplasia, and foot abnormalities; jws
Patient organizations
- Craniosynostosis and Positional Plagiocephaly Support IncJackson-Weiss 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 Jackson-Weiss syndrome.
Explore research for Jackson-Weiss syndrome
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- Recruiting studies from ClinicalTrials.gov
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- Eligibility is confirmed by the study team
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Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
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