Overview
Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome is an extremely rare genetic condition that affects multiple body systems at the same time. The name describes its main features: problems with brain development (neurodevelopmental disorder), unusual facial features (craniofacial dysmorphism), heart defects (cardiac defect), and bone or skeletal problems (skeletal anomalies). Children born with this syndrome typically show developmental delays, meaning they may be slower to reach milestones like sitting, walking, and talking. Intellectual disability can range from mild to severe. Facial features may include a broad forehead, widely spaced eyes, a flat nasal bridge, or other distinctive characteristics. Heart defects can vary in type and severity, and some may require surgical correction. Skeletal problems might include abnormalities of the spine, fingers, toes, or limbs. Because this syndrome affects so many different parts of the body, care usually involves a team of specialists working together. Treatment is mainly supportive and focused on managing individual symptoms, such as surgery for heart defects, physical therapy for motor delays, speech therapy, and special education services. There is currently no cure, but early intervention can significantly improve quality of life. This condition is caused by mutations in the WAC gene and follows an autosomal dominant inheritance pattern, meaning only one copy of the altered gene is needed to cause the condition.
Key symptoms:
Developmental delays in walking and talkingIntellectual disabilityUnusual facial featuresHeart defects present at birthSkeletal abnormalities such as curved spine or finger differencesLow muscle tone (feeling floppy)Short stature or growth delaysFeeding difficulties in infancySpeech and language delaysBehavioral challengesWidely spaced eyesBroad or prominent foreheadSeizures in some casesJoint looseness or hypermobility
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
Neonatal
Begins at or shortly after birth (first 4 weeks)
Treatments
No FDA-approved treatments are currently listed for Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome.
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Specialists
View all specialists →No specialists are currently listed for Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome.
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 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome.
Community
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Caregiver Resources
NORD Caregiver Resources
Support, advocacy, and financial assistance for caregivers of rare disease patients.
Mental Health Support
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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 symptoms should I watch for as my child grows?,Does my child have a heart defect, and if so, what treatment is needed?,What therapies should we start right away to support development?,How often should my child have follow-up appointments with each specialist?,Should other family members be tested for the WAC gene change?,Are there any clinical trials or research studies my child could participate in?,What educational supports and services should I request for my child at school?
Common questions about Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome
What is Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome?
Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome is an extremely rare genetic condition that affects multiple body systems at the same time. The name describes its main features: problems with brain development (neurodevelopmental disorder), unusual facial features (craniofacial dysmorphism), heart defects (cardiac defect), and bone or skeletal problems (skeletal anomalies). Children born with this syndrome typically show developmental delays, meaning they may be slower to reach milestones like sitting, walking, and talking. Intellectual disabilit
How is Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome inherited?
Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome follows a autosomal dominant inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome typically begin?
Typical onset of Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome is neonatal. Age of onset can vary across affected individuals.