Overview
This entry, listed under Orphanet code 330197, is classified as OBSOLETE. This means it is no longer considered a distinct or active disease category in the Orphanet rare disease database. Originally, it was used as a grouping term for conditions involving multiple birth defects (congenital anomalies), unusual physical features (dysmorphic features), and varying degrees of intellectual disability that were thought to have a genetic cause. Over time, as genetic testing and medical understanding improved, many of the conditions that were once grouped under this broad label have been reclassified into more specific diagnoses with known genetic causes. If you or a loved one was previously given this diagnosis, it is important to speak with a clinical geneticist to determine whether a more precise and up-to-date diagnosis is now available. Modern genetic testing, such as whole exome or whole genome sequencing, may help identify the specific gene or genes responsible for the symptoms. A more specific diagnosis can open doors to better-targeted treatments, more accurate information about what to expect, and connections to relevant patient support communities. The treatment landscape for conditions that were once grouped here varies widely depending on the specific underlying genetic cause.
Also known as:
Key symptoms:
Intellectual disability of varying severityUnusual facial featuresBirth defects affecting multiple organsDelayed developmental milestonesGrowth problems (short stature or overgrowth)Heart defects present at birthSkeletal abnormalitiesFeeding difficulties in infancyLow muscle toneSeizures in some casesVision or hearing problemsBehavioral differences
Variable
Can be inherited in different ways depending on the underlying gene
Neonatal
Begins at or shortly after birth (first 4 weeks)
Treatments
No FDA-approved treatments are currently listed for OBSOLETE: Genetic multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome.
View clinical trials →Clinical Trials
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Specialists
View all specialists →No specialists are currently listed for OBSOLETE: Genetic multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability 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 OBSOLETE: Genetic multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability 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
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.Has modern genetic testing been done to find a more specific diagnosis for my child's condition?,What types of genetic tests would you recommend, and what can they tell us?,Based on the symptoms present, what specific conditions should be considered?,What specialists should my child be seeing regularly?,Are there any clinical trials or new treatments that might be relevant?,What early intervention services should we start right away?,What is the chance that future children could have the same condition?
Common questions about OBSOLETE: Genetic multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome
What is OBSOLETE: Genetic multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome?
This entry, listed under Orphanet code 330197, is classified as OBSOLETE. This means it is no longer considered a distinct or active disease category in the Orphanet rare disease database. Originally, it was used as a grouping term for conditions involving multiple birth defects (congenital anomalies), unusual physical features (dysmorphic features), and varying degrees of intellectual disability that were thought to have a genetic cause. Over time, as genetic testing and medical understanding improved, many of the conditions that were once grouped under this broad label have been reclassified
At what age does OBSOLETE: Genetic multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome typically begin?
Typical onset of OBSOLETE: Genetic multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome is neonatal. Age of onset can vary across affected individuals.