Overview
Neonatal Marfan syndrome, also called neonatal or infantile Marfan syndrome, is a very severe form of Marfan syndrome that appears at birth or within the first few months of life. Unlike the more common (classic) form of Marfan syndrome, which often shows up later in childhood or adolescence, the neonatal form is much more aggressive and life-threatening. It is caused by changes (mutations) in the FBN1 gene, which provides instructions for making a protein called fibrillin-1. This protein is essential for the strength and flexibility of connective tissue throughout the body. Babies born with neonatal Marfan syndrome typically have very loose joints, unusually long limbs and fingers, loose and redundant skin, and distinctive facial features. The most serious problems involve the heart and blood vessels. Many affected infants develop severe heart valve problems, particularly leaking of the mitral and tricuspid valves, and enlargement of the aorta (the main blood vessel leaving the heart). The lungs can also be affected, with some babies developing emphysema-like changes. Treatment is mainly supportive and focused on managing heart complications. Medications such as beta-blockers may be used to reduce stress on the aorta. Heart surgery may be needed for severe valve problems or aortic enlargement. Despite treatment, the prognosis for neonatal Marfan syndrome is unfortunately poor, with many affected children not surviving beyond early childhood. A team of specialists including cardiologists, geneticists, and orthopedic surgeons is essential for care.
Also known as:
Key symptoms:
Very loose and flexible jointsUnusually long fingers and toesLong arms and legs relative to the bodyLoose, wrinkled, or redundant skinSevere heart valve leaking (mitral and tricuspid valves)Enlarged aorta (main artery from the heart)Sunken or protruding chestFlat feetDistinctive facial features with deep-set eyesLens dislocation in the eyesBreathing difficultiesEmphysema-like lung changesPoor muscle toneFailure to thrive or poor weight gainContractures of the fingers (bent fingers that don't fully straighten)
Clinical phenotype terms (43)— hover any for plain English
Autosomal dominant
Passed on from just one parent; each child has about a 50% chance of inheriting it
Neonatal
Begins at or shortly after birth (first 4 weeks)
Treatments
No FDA-approved treatments are currently listed for Neonatal Marfan syndrome.
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Rare Disease Specialist
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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 Neonatal Marfan syndrome.
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Questions for your doctor
Bring these to your next appointment
- Q1.How severe is my baby's heart involvement, and what does the echocardiogram show?,What specific FBN1 mutation does my child have, and does it affect the expected course of the disease?,What medications can help protect my child's heart and aorta?,At what point would heart surgery be considered, and what are the risks?,How often will my child need echocardiograms and other monitoring tests?,Is this a new mutation, or should other family members be tested?,What support services and palliative care options are available for our family?
Common questions about Neonatal Marfan syndrome
What is Neonatal Marfan syndrome?
Neonatal Marfan syndrome, also called neonatal or infantile Marfan syndrome, is a very severe form of Marfan syndrome that appears at birth or within the first few months of life. Unlike the more common (classic) form of Marfan syndrome, which often shows up later in childhood or adolescence, the neonatal form is much more aggressive and life-threatening. It is caused by changes (mutations) in the FBN1 gene, which provides instructions for making a protein called fibrillin-1. This protein is essential for the strength and flexibility of connective tissue throughout the body. Babies born with
How is Neonatal Marfan syndrome inherited?
Neonatal Marfan syndrome follows a autosomal dominant inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Neonatal Marfan syndrome typically begin?
Typical onset of Neonatal Marfan syndrome is neonatal. Age of onset can vary across affected individuals.
Which specialists treat Neonatal Marfan syndrome?
23 specialists and care centers treating Neonatal Marfan syndrome are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.