Introduction

In developing this resource, we—as a community of parents—felt it was vital that our language reflects the lived experience of our families. A recent community FB poll revealed that parents overwhelmingly support the term "Neonatal Marfan Syndrome" over the newer medical classification of "early-onset."  The result of that discussion lead to a change on this website to be called "neonatal Marfan" and for the advocacy of the term "neonatal Marfan" over "early-onset."

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​We are committed to an ongoing dialogue regarding the best term for the community. To support this, Stanford has included a specific question on terminology within their landmark study on Neonatal Marfan Syndrome to gather feedback from the largest possible group of parents. Based on these results, we will advocate for the term that best ensures our children receive the specialized, life-saving care they require. Results are expected in 2027/2028. 

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In the meantime, we have provided a summary of parent's concerns below. 

updated 12/26/2025

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Summary of Parent's Concerns for Early-Onset

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1. Lack of True "Onset": The term "early-onset" inherently implies a beginning or a point in time when the condition starts to become apparent. However, when manifestations are present at birth, the condition is not "onsetting"; it is already actively evident from the moment the child enters the world. This misnomer can lead to a misunderstanding of the congenital nature of the condition.
    

2. Confusion and Imprecision: "Early-onset" is a broad term that encompasses a spectrum of ages within childhood when Marfan syndrome might become clinically apparent. Applying the same label to cases with immediate, at-birth manifestations blurs the critical distinction between these most severe presentations and those that develop later in childhood. This lack of precision can hinder effective communication and potentially downplay the urgency and specific needs of newborns with these early signs.
    

3. Inaccuracy in Most Cases: Anecdotal evidence within parent support groups strongly suggests that a significant majority of children later diagnosed with severe, early-manifesting Marfan syndrome exhibited recognizable physical characteristics (long fingers, contractures, a "senile" appearance, redundant skin, downward-slanted eyes, enlarged corneas) at birth, even before a formal diagnosis. The term "early-onset" fails to capture this reality, implying a later development of these features.
    

4. Double Standard and Lay Misinterpretation: While the current medical term early-onset Marfan include presentations at birth, the lay understanding of "onset" implies a beginning after birth. This creates a disconnect between medical terminology and parental experience, potentially leading to confusion and a feeling that their observations of congenital manifestations were not adequately recognized or considered early on. Furthermore, there is a lack of a clear, universally accepted definition for "early-onset," contributing to inconsistencies in its application.
    

5. Delayed Recognition of Severity: Doctors may not immediately recognize the severity of the situation if they are not attuned to the significance of neonatal manifestations. The current imprecise terminology might contribute to a delay in recognizing the distinct and often more aggressive nature of Marfan syndrome presenting at birth.
    

6. Difficulty in Information Retrieval: The use of confusing and imprecise terms makes it difficult for families and even some clinicians to find specific information related to Marfan syndrome presenting in the neonatal period. Clearer terminology would improve the accessibility and accuracy of relevant resources.
    

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