Living with Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome
A genetic condition (White-Sutton syndrome) with intellectual disability, autism features, a small head, and delayed speech.
Understanding Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome
Most people have features of autism spectrum disorder, along with traits that are unusual in autism, such as an overly friendly manner. Development is delayed, with speech and language usually more delayed than motor skills. Intellectual disability ranges from borderline normal to severe.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Intellectual disability
- Delayed speech and language
- Autistic behavior
- Small head (microcephaly)
- Low muscle tone in infancy
- Digestive tract problems
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 and genetic specialists.
- 3Consider genetic testing
Changes in POGZ 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); 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 Simons Searchlight 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 POGZ gene cause this condition. It is inherited in an autosomal dominant pattern, meaning one changed copy of the gene can be enough.
Also known as: autosomal dominant intellectual disability 37; intellectual disability, autosomal dominant type 37; mrd37; white sutton syndrome; white-sutton syndrome; whsus
Patient organizations
- Simons SearchlightIntellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome · United States
- White Sutton Syndrome FoundationIntellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome · United States
You are more than your diagnosis
Perspectives from people navigating life with Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome.
Explore research for Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome
Explore actively recruiting Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome studies with HealthSpark.
Find actively recruiting studies for Intellectual disability-microcephaly-strabismus-behavioral abnormalities 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 Intellectual disability-microcephaly-strabismus-behavioral abnormalities 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 Intellectual disability-microcephaly-strabismus-behavioral abnormalities 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 Intellectual disability-microcephaly-strabismus-behavioral abnormalities 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.