Living with Pallister-W syndrome
A rare X-linked genetic condition with intellectual disability, seizures, and distinct facial features.
Understanding Pallister-W syndrome
People have moderate to severe intellectual disability and nervous system signs such as seizures and muscle stiffness. They also have certain facial features, like a broad forehead, wide-set eyes, a flat nasal bridge, and a notch in the upper lip. Hearing loss, slow growth, and bone and joint differences have also been described.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Delays in development (global developmental delay)
- Seizures
- Muscle stiffness (spasticity)
- Eyes that cross (esotropia)
- Missing upper front teeth
- Flat feet or high-arched feet
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 brain and nervous system specialists, ear, nose, and throat 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
- Brain and nervous system specialists (neurologists); Ear, nose, and throat specialists (otolaryngologists); 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 FACES: The National 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 X-linked, which means the gene involved is on the X chromosome. GARD doesn't list a specific gene.
Also known as: pallister w syndrome; w syndrome
Patient organizations
- FACES: The National Craniofacial AssociationPallister-W syndrome · United States
- World Craniofacial FoundationCraniofacial anomalies · United States
- Children's Craniofacial AssociationCraniofacial anomalies · United States
- myFaceCraniofacial anomalies · United States
You are more than your diagnosis
Perspectives from people navigating life with Pallister-W syndrome.
Explore research for Pallister-W 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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