Overview
Microcephaly-cardiac defect-lung malsegmentation syndrome is an extremely rare genetic condition that affects multiple parts of the body during development before birth. The name describes its three main features: microcephaly (an unusually small head, which often means the brain has not developed fully), heart defects (structural problems with the heart that are present at birth), and lung malsegmentation (abnormal division or formation of the lobes of the lungs). Because this syndrome affects the brain, heart, and lungs — three vital organ systems — it can cause serious health problems from birth onward. Babies born with this condition may show a noticeably small head size, breathing difficulties, and signs of heart problems such as a heart murmur or poor circulation. Additional features that have been reported in some cases include growth delays, intellectual disability, and other structural birth defects. Because so few cases have been described in the medical literature, the full range of symptoms and severity is not completely understood. There is currently no cure for this syndrome. Treatment focuses on managing each individual problem — for example, heart surgery for cardiac defects, respiratory support for lung issues, and developmental therapies for delays caused by microcephaly. A team of specialists is usually needed to provide the best care. The long-term outlook depends heavily on the severity of the heart and lung problems.
Also known as:
Key symptoms:
Unusually small head (microcephaly)Heart defects present at birthAbnormal formation of the lung lobesBreathing difficultiesDelayed growthIntellectual disabilityDevelopmental delaysLow birth weightFeeding difficulties in infancyPossible seizuresPoor weight gain
Clinical phenotype terms (23)— hover any for plain English
Autosomal recessive
Passed on when both parents carry the same gene change; often skips generations
Neonatal
Begins at or shortly after birth (first 4 weeks)
Treatments
No FDA-approved treatments are currently listed for Microcephaly-cardiac defect-lung malsegmentation syndrome.
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Specialists
View all specialists →No specialists are currently listed for Microcephaly-cardiac defect-lung malsegmentation 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 Microcephaly-cardiac defect-lung malsegmentation 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
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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.How severe are my child's heart and lung problems, and will surgery be needed?,What developmental milestones should we watch for, and what therapies should we start?,Is genetic testing recommended for our family, and what would the results mean?,What are the emergency warning signs I should watch for at home?,What is the expected long-term outlook for my child given their specific findings?,Are there any clinical trials or research studies we could participate in?,How can we best coordinate care among all the specialists involved?
Common questions about Microcephaly-cardiac defect-lung malsegmentation syndrome
What is Microcephaly-cardiac defect-lung malsegmentation syndrome?
Microcephaly-cardiac defect-lung malsegmentation syndrome is an extremely rare genetic condition that affects multiple parts of the body during development before birth. The name describes its three main features: microcephaly (an unusually small head, which often means the brain has not developed fully), heart defects (structural problems with the heart that are present at birth), and lung malsegmentation (abnormal division or formation of the lobes of the lungs). Because this syndrome affects the brain, heart, and lungs — three vital organ systems — it can cause serious health problems from
How is Microcephaly-cardiac defect-lung malsegmentation syndrome inherited?
Microcephaly-cardiac defect-lung malsegmentation syndrome follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Microcephaly-cardiac defect-lung malsegmentation syndrome typically begin?
Typical onset of Microcephaly-cardiac defect-lung malsegmentation syndrome is neonatal. Age of onset can vary across affected individuals.