Overview
Multiple congenital anomalies/dysmorphic syndrome (also called MCA/MR syndrome or multiple congenital anomalies with intellectual disability) is a broad term used to describe a group of rare conditions where a person is born with several physical differences and developmental challenges at the same time. These differences are present from birth and affect multiple parts of the body, which is why doctors use the word 'congenital' (meaning present at birth) and 'multiple anomalies' (meaning more than one body system is involved). People with this condition may have unusual facial features, differences in the shape or size of their head, heart defects, limb differences, and varying degrees of intellectual disability or developmental delay. Because this is a broad diagnostic category, the exact symptoms can vary greatly from one person to another depending on the underlying genetic cause. Treatment is focused on managing each individual symptom rather than curing the underlying condition. A team of specialists typically works together to support the child's development, address heart or organ problems, and provide educational and therapeutic support. Early intervention with speech therapy, physical therapy, and occupational therapy can make a meaningful difference in quality of life.
Key symptoms:
Unusual facial features such as widely spaced eyes, a flat nose bridge, or low-set earsIntellectual disability or learning difficultiesDevelopmental delays in walking, talking, or other milestonesHeart defects present at birthDifferences in the shape or size of the head (too small or too large)Short stature or slow growthDifferences in the hands, feet, or limbsFeeding difficulties in infancySeizuresVision or hearing problemsKidney or urinary tract differencesBehavioral challenges or autism-like featuresMuscle weakness or low muscle tone (floppiness)
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 Multiple congenital anomalies/dysmorphic syndrome.
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View all trials with filters →No actively recruiting trials found for Multiple congenital anomalies/dysmorphic syndrome at this time.
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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 Multiple congenital anomalies/dysmorphic 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.What is the most likely underlying genetic cause of my child's condition, and what tests should we do to find out?,Which specialists does my child need to see, and how often?,Are there any specific health problems we should watch for as my child grows older?,What early intervention or therapy services should we start right away?,Is there a risk that future children could be affected, and should other family members be tested?,Are there any clinical trials or research studies that my child might be eligible for?,What support services or patient organizations can help our family?
Common questions about Multiple congenital anomalies/dysmorphic syndrome
What is Multiple congenital anomalies/dysmorphic syndrome?
Multiple congenital anomalies/dysmorphic syndrome (also called MCA/MR syndrome or multiple congenital anomalies with intellectual disability) is a broad term used to describe a group of rare conditions where a person is born with several physical differences and developmental challenges at the same time. These differences are present from birth and affect multiple parts of the body, which is why doctors use the word 'congenital' (meaning present at birth) and 'multiple anomalies' (meaning more than one body system is involved). People with this condition may have unusual facial features, diff
At what age does Multiple congenital anomalies/dysmorphic syndrome typically begin?
Typical onset of Multiple congenital anomalies/dysmorphic syndrome is neonatal. Age of onset can vary across affected individuals.
Which specialists treat Multiple congenital anomalies/dysmorphic syndrome?
1 specialists and care centers treating Multiple congenital anomalies/dysmorphic syndrome are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.