Term | Neonatal Marfan

Choosing Our Words: Why We Use "Neonatal Marfan Syndrome"

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."

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.

In the meantime, we have provided our full working statement below. This document outlines the rationale for using 'neonatal' based on a summary of concerns and feedback from a majority of parents and patients who have engaged with this issue.

updated 12/26/2025

Parents' Statement Regarding the Importance of Discontinuing the Term Early-Onset Marfan Syndrome and Using The Term Neonatal Marfan Syndrome

The current terminology used to describe Marfan syndrome presenting with manifestations at birth, often categorized under the umbrella of "early-onset Marfan syndrome," is proving to be harmful, imprecise, and inaccurate in its application. This paper argues for a shift towards utilizing the term "neonatal Marfan syndrome" when the characteristic features of this severe form of the condition are evident at birth or within the first 28 days of life. This change in nomenclature is crucial for improving diagnostic accuracy, facilitating timely intervention, enhancing communication between clinicians and families, and ultimately leading to better outcomes for affected individuals.

Arguments Against the Current Terminology:

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.
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.
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.
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.
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.
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.

Arguments for Utilizing "Neonatal Marfan Syndrome":

Emphasis on Timing: The term "neonatal" specifically and accurately denotes that the manifestations of Marfan syndrome are apparent within the first 28 days of life. This temporal specificity immediately signals the congenital and often severe nature of the condition.
Focus on Early Presentation: "Neonatal Marfan syndrome" highlights that the signs and symptoms are evident in the newborn period, regardless of when the formal diagnosis is confirmed. The early presentation of characteristic features and significant cardiovascular involvement is the defining characteristic for using this term.
Alignment with Medical Standards: In other medical fields, conditions presenting at birth are routinely described using terms like "congenital" or "neonatal." Adopting similar terminology for Marfan syndrome in these specific cases would create better consistency within medical language and facilitate clearer communication across specialties.
Improved Clinical Significance and Prognostic Understanding: Neonatal Marfan syndrome often represents a more severe and rapidly progressive form of the condition with a distinct set of potential complications and a generally poorer prognosis compared to later-onset cases. A distinct term would emphasize this difference for clinicians, researchers, and families, potentially leading to more tailored management strategies and research efforts focused on this specific presentation.
Enhanced Clarity for Families: For parents facing the diagnosis of Marfan syndrome in their newborn with immediate manifestations, the term "neonatal" is more direct and intuitively understandable in the context of their child's immediate health challenges. It validates their early observations and conveys the seriousness of the situation more effectively than the broader term "early-onset."

Moving Forward:

To address the current shortcomings in terminology, we propose the following:

Advocate for the adoption of "neonatal Marfan syndrome" as the preferred term when characteristic manifestations are evident at birth or within the first 28 days of life.
Encourage medical professional organizations to update their guidelines and diagnostic criteria to explicitly include and define "neonatal Marfan syndrome."
Promote educational initiatives for healthcare providers to enhance their understanding of the distinct clinical presentation and implications of neonatal Marfan syndrome.
Develop clear and accessible resources for families that utilize accurate and specific terminology, such as "neonatal Marfan syndrome," to describe presentations at birth.

Conclusion:

The current use of "early-onset Marfan syndrome" to describe cases with manifestations present at birth is imprecise, potentially misleading, and fails to adequately convey the congenital nature and often heightened severity of this presentation. Adopting the term "neonatal Marfan syndrome" would represent a significant step towards improved diagnostic accuracy, enhanced communication, and ultimately better care for newborns and their families affected by this challenging condition. This shift in terminology is not merely semantic; it is a crucial step in ensuring that the unique needs and realities of individuals with Marfan syndrome manifesting at birth are accurately recognized and addressed.