Overview
Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability is a broad category of rare genetic conditions where a person is born with several physical differences or birth defects affecting different parts of the body, but their thinking and learning abilities remain normal. The term 'congenital anomalies' means physical differences present at birth, and 'dysmorphic' refers to unusual features in the shape or structure of body parts such as the face, hands, feet, heart, or skeleton. What makes this group of conditions distinct is that, unlike many other syndromes with multiple birth defects, people affected do not have intellectual disability — their cognitive development and intelligence are within the normal range. Because this is an umbrella category rather than a single disease, the specific symptoms can vary widely from person to person depending on the underlying genetic cause. Some individuals may have heart defects, skeletal abnormalities, unusual facial features, or differences in how organs developed. Treatment is tailored to each person's specific set of physical findings and may include surgeries, therapies, and ongoing monitoring by multiple specialists. Early identification and coordinated care can significantly improve quality of life. Genetic testing is often essential to pinpoint the exact cause, which helps guide treatment decisions and provides information about whether the condition could be passed on to future children.
Also known as:
Key symptoms:
Unusual facial features such as widely spaced eyes or a small jawHeart defects present at birthSkeletal differences such as short stature or limb abnormalitiesDifferences in the shape or size of the headAbnormalities of the hands or feet such as extra or fused fingers or toesKidney or urinary tract differencesHearing problemsVision problemsDifferences in skin pigmentation or textureFeeding difficulties in infancyDelayed physical growthGenital or reproductive organ differencesSpine abnormalities such as scoliosis
Variable
Can be inherited in different ways depending on the underlying gene
Neonatal
Begins at or shortly after birth (first 4 weeks)
FDA & Trial Timeline
2 eventsCéline PEBREL-RICHARD — NA
National Heart, Lung, and Blood Institute (NHLBI) — NA
Data sourced from FDA regulatory filings and ClinicalTrials.gov. Updated periodically.
Treatments
No FDA-approved treatments are currently listed for Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability.
View clinical trials →Clinical Trials
View all trials with filters →No actively recruiting trials found for Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability at this time.
New trials open frequently. Follow this disease to get notified.
Rare Disease Specialist
Treatment Centers
8 centersNational Institutes of Health Clinical Center
📍 Bethesda, Maryland
👤 Payal P Khincha, M.D.
👤 Christopher Grunseich, M.D.
Stanford Medicine Rare Disease Center ↗
Stanford Medicine
📍 Stanford, CA
🏥 NORDMayo Clinic Center for Individualized Medicine ↗
Mayo Clinic
📍 Rochester, MN
👤 Mayo Clinic Center for Individualized Medicine
🔬 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
🔬 UDNNIH Clinical Center Undiagnosed Diseases Program ↗
National Institutes of Health
📍 Bethesda, MD
🏥 NORDBaylor College of Medicine Rare Disease Center ↗
Baylor College of Medicine
📍 Houston, TX
Travel Grants
No travel grants are currently matched to Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability.
Community
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Start the conversation →Latest news about Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability
Disease timeline:
New recruiting trial: Contribution of Optical Genome Mapping (OGM) in the Diagnosis of Multiple Congenital Malformations With or Without Intellectual Disability Without Genetic Abnormality
A new clinical trial is recruiting patients for Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability
New trial: Vascular Disease Discovery Protocol
Phase NA trial recruiting.
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 genetic condition is causing my child's physical differences?,Which organs need to be monitored regularly, and how often?,Are there any surgeries or procedures that should be done early for the best outcome?,Is this condition inherited, and what are the chances of it occurring in future children?,What therapies or support services would benefit my child the most right now?,Are there any clinical trials or new treatments being studied for this condition?,Can you help coordinate care among the different specialists my child needs?
Common questions about Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability
What is Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability?
Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability is a broad category of rare genetic conditions where a person is born with several physical differences or birth defects affecting different parts of the body, but their thinking and learning abilities remain normal. The term 'congenital anomalies' means physical differences present at birth, and 'dysmorphic' refers to unusual features in the shape or structure of body parts such as the face, hands, feet, heart, or skeleton. What makes this group of conditions distinct is that, unlike many other syndromes
At what age does Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability typically begin?
Typical onset of Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability is neonatal. Age of onset can vary across affected individuals.
Which specialists treat Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability?
1 specialists and care centers treating Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.