Living with DeSanto-Shinawi syndrome
A rare genetic syndrome with developmental delay, intellectual disability, low muscle tone, and behavior challenges.
Understanding DeSanto-Shinawi syndrome
Other features include low muscle tone, behavior problems, vision and hearing differences, constipation, and feeding difficulties. Behavior is often marked by ADHD, but anxiety, aggressive outbursts, and autistic features can also occur. GARD lists onset in infancy or childhood.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Developmental delay and intellectual disability
- Absent speech
- Attention deficit hyperactivity disorder (ADHD)
- Anxiety
- Constipation
- Vision differences
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.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
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
GARD says changes in genes cause this condition. It is autosomal dominant, so a changed copy of the gene from one parent can be enough.
Also known as: wac-related facial dysmorphism-developmental delay-behavioral abnormalities syndrome; wac-related facial dysmorphism, developmental delay, behavioral abnormalities syndrome; ww domain containing adaptor with coiled-coil-related facial dysmorphism, developmental delay, behavioral abnormalities syndrome
Patient organizations
- Simons SearchlightDeSanto-Shinawi syndrome · United States
- The DESSH FoundationDeSanto-Shinawi syndrome · United States
You are more than your diagnosis
Perspectives from people navigating life with DeSanto-Shinawi syndrome.
Explore research for DeSanto-Shinawi syndrome
Explore actively recruiting DeSanto-Shinawi syndrome studies with HealthSpark.
Find actively recruiting studies for DeSanto-Shinawi 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 DeSanto-Shinawi 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 DeSanto-Shinawi 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 DeSanto-Shinawi 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.