Living with Pettigrew syndrome
A rare X-linked brain condition with severe intellectual disability, seizures, movement problems, and certain brain differences.
Understanding Pettigrew syndrome
It is also called X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizures. Babies have low muscle tone that later becomes stiffness and tight joints, along with writhing movements. The face is long with a prominent forehead. Brain scans show a Dandy-Walker malformation and iron deposits. Signs begin during pregnancy and in newborns.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Small or missing cerebellum
- Large skull (macrocephaly)
- Fluid-filled spaces in the brain (ventriculomegaly)
- Shrinking of the brain's outer layer
- Eyes that cross (strabismus)
- Undescended testes or inguinal hernia
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, eye disease specialists and genetic specialists.
- 3Consider genetic testing
Changes in AP1S2 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); Eye disease specialists (ophthalmologists); Genetic specialists (geneticists)
- Expert care
- Ask about multidisciplinary care centers for rare conditions
- 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 Dandy-Walker Alliance, Inc.
- 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 AP1S2 gene cause this condition. It is X-linked, which means the gene is on the X chromosome.
Also known as: intellectual disability, x-linked syndromic 5; mrx59; mrxs21; pettigrew syndrome, x-linked recessive; pgs; syndromic x-linked intellectual disability 21
Patient organizations
- Dandy-Walker Alliance, Inc.Pettigrew syndrome · United States
You are more than your diagnosis
Perspectives from people navigating life with Pettigrew syndrome.
Explore research for Pettigrew syndrome
Explore actively recruiting Pettigrew syndrome studies with HealthSpark.
Find actively recruiting studies for Pettigrew syndrome with HealthSpark. Share your city to explore research near you.
- Recruiting studies from ClinicalTrials.gov
- Share your city to look for research near you
- Eligibility is confirmed by the study team
Powered by HealthSpark, our AI chat helper
I can help you find recruiting Pettigrew syndrome studies. Enter a ZIP code, address or city below and I'll look within 50 miles.
Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
Get Signals for Pettigrew syndrome
Stay in the loop with community stories and updates from medical researchers.
Create a living journal that talks back
HealthStory evolves private journaling with a living AI journal that talks back and asks thoughtful questions, helping you capture your Pettigrew syndrome experiences more deeply and prepare for better conversations with your doctors and care team.
Your journal is private. Sharing your story publicly is a separate choice, made with Share your story above.