Overview
WAC-related facial dysmorphism-developmental delay-behavioral abnormalities syndrome is a rare genetic condition caused by changes (mutations) in the WAC gene. This syndrome is sometimes called DeSanto-Shinawi syndrome. It affects multiple parts of the body, but the most noticeable features involve facial appearance, learning and development, and behavior. Children with this condition typically have distinctive facial features that may include a broad forehead, widely spaced eyes, a thin upper lip, and a short nose. Developmental delays are common, meaning children may take longer to reach milestones like sitting, walking, and talking. Many children have mild to moderate intellectual disability and may struggle with speech and language. Behavioral issues are also a key part of this syndrome and can include attention deficit hyperactivity disorder (ADHD), anxiety, aggression, and autism-like behaviors. Other features can include low muscle tone (hypotonia), feeding difficulties in infancy, growth problems, and occasionally seizures. There is currently no cure for this condition. Treatment focuses on managing individual symptoms through therapies such as speech therapy, occupational therapy, physical therapy, and behavioral support. Early intervention services can make a meaningful difference in a child's development and quality of life.
Also known as:
Key symptoms:
Distinctive facial features such as broad forehead and widely spaced eyesDelayed speech and language developmentDelayed motor milestones like walkingMild to moderate intellectual disabilityLow muscle tone (floppiness)Attention deficit hyperactivity disorder (ADHD)AnxietyAggressive behaviorAutism-like behaviorsFeeding difficulties in infancyShort stature or growth delaysSeizures in some casesSleep problemsThin upper lip and short nose
Clinical phenotype terms (50)— hover any for plain English
Autosomal dominant
Passed on from just one parent; each child has about a 50% chance of inheriting it
Infantile
Begins in infancy, roughly 1 month to 2 years old
FDA & Trial Timeline
1 eventUniversity Hospital, Clermont-Ferrand
Data sourced from FDA regulatory filings and ClinicalTrials.gov. Updated periodically.
Treatments
No FDA-approved treatments are currently listed for WAC-related facial dysmorphism-developmental delay-behavioral abnormalities syndrome.
1 clinical trialare actively recruiting — trials can provide access to cutting-edge therapies.
View clinical trials →Treatment Centers
8 centersBaylor College of Medicine Rare Disease Center ↗
Baylor College of Medicine
📍 Houston, TX
🏥 NORDStanford Medicine Rare Disease Center ↗
Stanford Medicine
📍 Stanford, CA
🔬 UDNNIH Clinical Center Undiagnosed Diseases Program ↗
National Institutes of Health
📍 Bethesda, MD
🔬 UDNUCLA UDN Clinical Site ↗
UCLA Health
📍 Los Angeles, CA
🔬 UDNBaylor College of Medicine UDN Clinical Site ↗
Baylor College of Medicine
📍 Houston, TX
🔬 UDNHarvard/MGH UDN Clinical Site ↗
Massachusetts General Hospital
📍 Boston, MA
🏥 NORDMayo Clinic Center for Individualized Medicine ↗
Mayo Clinic
📍 Rochester, MN
👤 Mayo Clinic Center for Individualized Medicine
🏥 NORDUCLA Rare Disease Day Program ↗
UCLA Health
📍 Los Angeles, CA
Travel Grants
No travel grants are currently matched to WAC-related facial dysmorphism-developmental delay-behavioral abnormalities syndrome.
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Start the conversation →Latest news about WAC-related facial dysmorphism-developmental delay-behavioral abnormalities syndrome
1 articlesCaregiver Resources
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Family & Caregiver Grants
Financial assistance programs specifically for caregivers of rare disease patients.
Social Security Disability
Learn how rare disease patients may qualify for SSDI/SSI benefits.
Questions for your doctor
Bring these to your next appointment
- Q1.What specific genetic change was found in my child's WAC gene, and what does it mean?,What therapies should we start right away, and how often should they occur?,Should my child be monitored for seizures or other medical complications?,What educational supports or accommodations should we request at school?,Are there any medications that could help with behavioral challenges?,What is the long-term outlook for my child's independence and quality of life?,Should other family members be tested for this genetic change?
Common questions about WAC-related facial dysmorphism-developmental delay-behavioral abnormalities syndrome
What is WAC-related facial dysmorphism-developmental delay-behavioral abnormalities syndrome?
WAC-related facial dysmorphism-developmental delay-behavioral abnormalities syndrome is a rare genetic condition caused by changes (mutations) in the WAC gene. This syndrome is sometimes called DeSanto-Shinawi syndrome. It affects multiple parts of the body, but the most noticeable features involve facial appearance, learning and development, and behavior. Children with this condition typically have distinctive facial features that may include a broad forehead, widely spaced eyes, a thin upper lip, and a short nose. Developmental delays are common, meaning children may take longer to reach mi
How is WAC-related facial dysmorphism-developmental delay-behavioral abnormalities syndrome inherited?
WAC-related facial dysmorphism-developmental delay-behavioral abnormalities syndrome follows a autosomal dominant inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does WAC-related facial dysmorphism-developmental delay-behavioral abnormalities syndrome typically begin?
Typical onset of WAC-related facial dysmorphism-developmental delay-behavioral abnormalities syndrome is infantile. Age of onset can vary across affected individuals.
Are there clinical trials for WAC-related facial dysmorphism-developmental delay-behavioral abnormalities syndrome?
Yes — 1 recruiting clinical trial is currently listed for WAC-related facial dysmorphism-developmental delay-behavioral abnormalities syndrome on UniteRare. See the clinical trials section on this page for phase, sponsor, and site details sourced from ClinicalTrials.gov.
Which specialists treat WAC-related facial dysmorphism-developmental delay-behavioral abnormalities syndrome?
1 specialists and care centers treating WAC-related facial dysmorphism-developmental delay-behavioral abnormalities syndrome are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.