Overview
Lethal multiple congenital anomalies/dysmorphic syndrome is an extremely rare and severe condition in which a baby is born with many serious birth defects affecting multiple organ systems, along with unusual facial or body features (dysmorphic features). The term 'lethal' in the name indicates that this condition is typically fatal, often before or shortly after birth. Babies with this syndrome may have abnormalities of the brain, heart, kidneys, skeleton, and other organs. The combination and severity of these birth defects usually make it impossible for the baby to survive outside the womb for an extended period. Because this is an umbrella designation used in medical classification systems, it may encompass several distinct but overlapping genetic conditions that share the common feature of multiple life-threatening birth defects. The specific features can vary from one affected baby to another, depending on the underlying genetic cause. Diagnosis is often made during pregnancy through ultrasound or after birth based on physical examination and genetic testing. There is currently no cure or effective treatment that can reverse the underlying problems. Medical care focuses on comfort and supportive measures for the baby and emotional support for the family. Palliative care teams and genetic counselors play important roles in helping families understand the condition and cope with the diagnosis.
Key symptoms:
Multiple severe birth defects present at birthUnusual facial featuresBrain abnormalitiesHeart defectsKidney malformationsSkeletal abnormalitiesGrowth restriction before birthAbnormal muscle toneBreathing difficulties at birthFeeding difficultiesAbnormal head size (too small or too large)Limb abnormalitiesGenital abnormalities
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 Lethal multiple congenital anomalies/dysmorphic syndrome.
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Specialists
View all specialists →No specialists are currently listed for 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 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 birth defects does my baby have, and how do they affect my baby's health?,Is there a known genetic cause for my baby's condition, and what testing is recommended?,What is the expected outlook for my baby, and what can we do to keep them comfortable?,What are the chances of this happening again in a future pregnancy?,Are there prenatal tests available for future pregnancies to check for this condition?,Can you connect us with a genetic counselor and a palliative care team?,What support services are available for our family during and after this experience?
Common questions about Lethal multiple congenital anomalies/dysmorphic syndrome
What is Lethal multiple congenital anomalies/dysmorphic syndrome?
Lethal multiple congenital anomalies/dysmorphic syndrome is an extremely rare and severe condition in which a baby is born with many serious birth defects affecting multiple organ systems, along with unusual facial or body features (dysmorphic features). The term 'lethal' in the name indicates that this condition is typically fatal, often before or shortly after birth. Babies with this syndrome may have abnormalities of the brain, heart, kidneys, skeleton, and other organs. The combination and severity of these birth defects usually make it impossible for the baby to survive outside the womb f
At what age does Lethal multiple congenital anomalies/dysmorphic syndrome typically begin?
Typical onset of Lethal multiple congenital anomalies/dysmorphic syndrome is neonatal. Age of onset can vary across affected individuals.