Overview
Genetic lethal multiple congenital anomalies/dysmorphic syndrome (Orphanet code 471383) is an extremely rare and severe condition present from birth. 'Multiple congenital anomalies' means a baby is born with several different structural problems affecting different parts of the body at the same time. 'Dysmorphic' refers to unusual physical features such as differences in the shape of the face, head, hands, or other body parts. The word 'lethal' in the name reflects that this condition is typically life-limiting, often resulting in death in the newborn period or early infancy, though the exact course can vary depending on which specific genetic change is involved. This syndrome affects multiple organ systems at once, which can include the heart, brain, kidneys, skeleton, and facial features. Because this is a broad category covering several different underlying genetic causes, the exact symptoms and severity can differ from one child to another. Common features may include heart defects, brain malformations, unusual facial features, limb abnormalities, and problems with internal organs. There is currently no cure for this condition. Care is focused on comfort, support, and managing individual symptoms. Families are encouraged to work closely with a team of specialists and a clinical geneticist to understand the specific genetic cause in their child, which can help guide care decisions and family planning.
Key symptoms:
Multiple birth defects affecting different parts of the bodyUnusual facial features (such as widely spaced eyes, small jaw, or abnormal ear shape)Heart defects present at birthBrain malformations or abnormal brain developmentKidney or urinary tract abnormalitiesLimb differences or skeletal abnormalitiesVery low muscle tone (floppy baby)Feeding difficulties from birthBreathing problems requiring supportGrowth problems or very small size at birth
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 Genetic lethal multiple congenital anomalies/dysmorphic syndrome.
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Specialists
View all specialists →No specialists are currently listed for Genetic lethal multiple congenital anomalies/dysmorphic 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 Genetic lethal 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 specific genetic test results do we have, and what do they mean for our child?,Which organs are affected in our child, and how serious are each of these problems?,What are the realistic expectations for our child's survival and quality of life?,What comfort care and palliative care options are available to us?,What does this diagnosis mean for future pregnancies — what is the chance of it happening again?,Are there any clinical studies or research programs we could participate in?,What support services are available for our family, including mental health and social support?
Common questions about Genetic lethal multiple congenital anomalies/dysmorphic syndrome
What is Genetic lethal multiple congenital anomalies/dysmorphic syndrome?
Genetic lethal multiple congenital anomalies/dysmorphic syndrome (Orphanet code 471383) is an extremely rare and severe condition present from birth. 'Multiple congenital anomalies' means a baby is born with several different structural problems affecting different parts of the body at the same time. 'Dysmorphic' refers to unusual physical features such as differences in the shape of the face, head, hands, or other body parts. The word 'lethal' in the name reflects that this condition is typically life-limiting, often resulting in death in the newborn period or early infancy, though the exact
At what age does Genetic lethal multiple congenital anomalies/dysmorphic syndrome typically begin?
Typical onset of Genetic lethal multiple congenital anomalies/dysmorphic syndrome is neonatal. Age of onset can vary across affected individuals.