White Sutton Syndrome (WHSUS)

White Sutton Syndrome is a rare genetic neurodevelopmental disorder caused by variants in the POGZ gene. First described in 2016 by Dr. Janson White and Dr. Reid Sutton, it is characterized by intellectual disability, developmental delays (especially in speech and language), features of autism spectrum disorder, and distinctive facial features. Approximately 175 individuals have been identified worldwide.

What this means for your family: Your child has a rare condition, but you are not alone. The White Sutton Syndrome community is small but incredibly connected and supportive. Because WHSUS was only identified in 2016, research is actively expanding and new information emerges regularly.

Cause: WHSUS occurs when one copy of the POGZ gene has a variant that prevents it from making the POGZ protein normally. This protein is critical for brain development. In almost all known cases, this is a de novo (new) mutation — meaning nothing you did caused it.

Key fact: There are no medications to avoid and no specific immunizations to skip. Treatment is supportive and focused on maximizing your child's potential through therapy and early intervention.

• Intellectual disability (mild to severe, varies widely)
• Speech and language delay (first words may come on time, but sentences are significantly delayed)
• Motor delay and clumsiness
• Features of autism spectrum disorder (but often with an unusually friendly demeanor)
• Behavioral challenges: hyperactivity, anxiety, aggression, repetitive behaviors
• Seizures (often starting between ages 1-4, usually well-controlled with medication)
• Vision problems (especially farsightedness) and possible hearing loss
• Distinctive facial features: wide-set eyes, pointed chin, broad nose, full lower lip
• Low muscle tone (hypotonia)
• Gastrointestinal problems (constipation, reflux, cyclic vomiting)
• Sleep difficulties
• Obesity and short stature

1. Get a genetics consultation if not already done — confirm the POGZ variant and understand the specific change
2. Enroll in Early Intervention (ages 0-3) or request an IEP evaluation (ages 3+)
3. Start therapies early — speech therapy, occupational therapy, physical therapy, and ABA if autism features are present
4. See a developmental pediatrician to coordinate care across specialists
5. Connect with the White Sutton Syndrome Foundation (whitesutton.org) — they maintain a registry and connect families
6. Join the WHSUS parent Facebook groups — the community is small but incredibly supportive and knowledgeable
7. Schedule recommended screenings — cardiac, vision, hearing, and GI evaluations
8. Start a Letter of Intent — document your child's routines, triggers, preferences, and care needs

• IDEA: Qualifies for Early Intervention (0-3) and IEP services (3+) under multiple categories
• SSI: Most children with WHSUS qualify for Supplemental Security Income
• Medicaid Waiver: Home and community-based services in many states
• Rare Disease Programs: May qualify for additional support through rare disease organizations
• ABLE Accounts: Tax-advantaged savings that don't affect benefits eligibility
• Genetic counseling: Covered by most insurance — important for understanding recurrence risk (typically <1% for de novo variants)