Overview
Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation is an extremely rare genetic condition that affects multiple body systems at the same time. It is sometimes referred to by its Orphanet designation (ORPHA:453504) and falls under the broader category of syndromic neurodevelopmental disorders. The condition is caused by a specific type of genetic change (a point mutation) that disrupts normal development before and after birth. Children born with this syndrome typically show delays in brain development, which can lead to intellectual disability and delayed milestones such as sitting, walking, and talking. The face may have unusual features (craniofacial dysmorphism), which can include a broad forehead, widely spaced eyes, a flat nasal bridge, or other distinctive facial characteristics. Heart defects are another hallmark of this condition and can range from mild to serious structural problems that may need surgical repair. Skeletal anomalies, such as abnormal curvature of the spine, short stature, or differences in the hands and feet, are also commonly seen. Because this syndrome affects so many body systems, treatment is supportive and tailored to each person's specific needs. There is currently no cure, but early intervention with therapies, cardiac monitoring, and orthopedic care can improve quality of life. A team of specialists is usually needed to manage the different aspects of the condition.
Key symptoms:
Intellectual disability or learning difficultiesDelayed speech and language developmentDelayed motor milestones such as sitting and walkingUnusual facial features such as a broad forehead or widely spaced eyesHeart defects present at birthShort stature or growth delaysAbnormal curvature of the spineDifferences in the shape or size of the hands or feetLow muscle tone (feeling floppy)Feeding difficulties in infancyBehavioral challengesSeizures in some casesJoint looseness or stiffness
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 due to a point mutation.
View clinical trials →Clinical Trials
View all trials with filters →No actively recruiting trials found for Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation at this time.
New trials open frequently. Follow this disease to get notified.
Specialists
View all specialists →No specialists are currently listed for Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation.
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 due to a point mutation.
Community
No community posts yet. Be the first to share your experience with Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation.
Start the conversation →Latest news about Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation
No recent news articles for Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation.
Follow this condition to be notified when news becomes available.
Caregiver Resources
NORD Caregiver Resources
Support, advocacy, and financial assistance for caregivers of rare disease patients.
Mental Health Support
Rare disease caregiving can be isolating. Connect with counseling and peer support.
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 mutation was found, and what does it mean for my child's health?,How severe is my child's heart defect, and will surgery be needed?,What therapies should we start right away to support my child's development?,How often should my child be seen by each specialist?,Are there any clinical trials or research studies my child might be eligible for?,What should I watch for at home that would require emergency medical attention?,Is there a risk that future children could have the same condition?
Common questions about Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation
What is Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation?
Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation is an extremely rare genetic condition that affects multiple body systems at the same time. It is sometimes referred to by its Orphanet designation (ORPHA:453504) and falls under the broader category of syndromic neurodevelopmental disorders. The condition is caused by a specific type of genetic change (a point mutation) that disrupts normal development before and after birth. Children born with this syndrome typically show delays in brain development, which can lead to inte
How is Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation inherited?
Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation 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 due to a point mutation typically begin?
Typical onset of Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation is neonatal. Age of onset can vary across affected individuals.