Facial Features in Ehlers-Danlos Syndromes and Marfan Syndrome

Comparison of Facial Features in Ehlers-Danlos Syndromes (EDS) and Marfan Syndrome

Facial features play an important role in clinical recognition of Ehlers-Danlos Syndromes (EDS), particularly vascular EDS, and Marfan Syndrome. Although there are some overlaps, each condition has distinct facial presentations that assist in differential diagnosis.

Facial Features of Ehlers-Danlos Syndromes (EDS)

The facial features associated with Ehlers-Danlos Syndromes (EDS) vary significantly across its subtypes, with some presenting more distinctive characteristics than others. Facial traits can be particularly useful in aiding clinical recognition and preliminary diagnosis in specific EDS subtypes, especially vascular EDS (vEDS), where facial features are well-defined. In contrast, hypermobility EDS (hEDS) generally does not present with consistent or distinct facial markers, making diagnosis more reliant on other clinical symptoms.

Facial Features of Vascular EDS (vEDS)

Vascular EDS (vEDS) is recognized for its distinctive facial characteristics, which often provide early clues to clinicians. Individuals with vEDS tend to have large, prominent eyes, contributing to a striking facial profile. These eyes may appear more prominent due to a combination of thin, translucent skin and reduced subcutaneous tissue around the eye area, which can accentuate the eye structure. The prominent eyes are often accompanied by a small, recessed chin, sometimes described as micrognathia or retrognathia, giving a delicate lower facial structure that further defines the vEDS appearance.

The cheeks in vEDS are often sunken, creating a hollowed look that highlights the cheekbones and contributes to a fragile, gaunt appearance. This is compounded by the thin nose and lips commonly seen in vEDS, which, together with the absence of defined earlobes (or “lobeless ears”), can give an almost sculpted look to the face. Translucent skin is a hallmark of vEDS, allowing underlying veins, particularly around the temples and cheeks, to be visible. This translucency, due to compromised collagen integrity in type III collagen, is especially noticeable in fair-skinned individuals and is unique to this subtype within EDS. These facial characteristics of vEDS are among the most recognizable in EDS subtypes, assisting clinicians in suspecting and further investigating vEDS as a diagnosis, especially when coupled with signs of vascular fragility.

Facial Features of Hypermobile EDS and Other EDS Subtypes

In contrast to vEDS, hypermobility EDS (hEDS) lacks consistent, distinctive facial features across patients. This subtype is more commonly diagnosed based on joint hypermobility, musculoskeletal pain, and other systemic features rather than a specific facial phenotype. However, some individuals with hEDS may present with softer, less-defined facial features that might include a slightly broader forehead, contributing to a less angular and more rounded face shape. While these characteristics are not diagnostic, they may provide subtle clues in conjunction with other clinical findings.

Some patients with hEDS may exhibit mild facial asymmetry or subtler traits such as a broader face with a softer jawline, but these features are highly variable and are not consistently observed across patients. Unlike vEDS, hEDS does not typically involve thin skin or translucency, which are often hallmarks of vEDS. In general, the absence of defining facial features in hEDS means that diagnosis relies on clinical evaluation of joint hypermobility and other systemic manifestations rather than facial appearance.

These distinct facial differences between vEDS and hEDS highlight the variable presentation of EDS subtypes, with vEDS having a more recognizable facial profile that aids in early suspicion, while hEDS requires a more symptom-focused approach due to its lack of consistent facial markers.

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Facial Features of Marfan Syndrome

Marfan Syndrome also presents with a set of recognizable facial features that, although not exclusively diagnostic, support clinical suspicion:

• Dolicocephaly (long, narrow head shape): This head shape gives the face an elongated appearance.
• Enophthalmos (deep-set eyes): Common in Marfan Syndrome, resulting in a sunken appearance to the eyes.
• Down-slanting Palpebral Fissures: The outer corners of the eyes slant downward, adding a distinct look to the eye area.
• Malar Hypoplasia (underdeveloped cheekbones): This feature gives a flatter appearance to the midface.
• Retrognathia (receded jaw): A small or receding chin is frequently observed in Marfan Syndrome, contributing to its unique facial profile.

These features are generally more noticeable in younger patients with Marfan Syndrome and may become less prominent with age, particularly down-slanting palpebral fissures and retrognathia.

Similarities in Facial Features

1. General Thinness and Prominence: Both vascular EDS and Marfan Syndrome can present with thin facial features that contribute to prominent facial structures. Defined cheekbones are common in both, although more noticeable in vascular EDS due to soft tissue thinness.
2. Small or Receding Chin: A small or receding chin is common to both conditions, though in Marfan Syndrome it results from retrognathia (a receded jaw), while in vascular EDS it reflects a “small chin” phenotype due to COL3A1 mutations.
3. Eye Features: Both conditions can have prominent or deep-set eyes, adding to a striking facial profile. Marfan Syndrome often shows enophthalmos (sunken eyes), while vascular EDS is characterized by large, prominent eyes due to underlying soft tissue differences.

Differences in Facial Features

1. Eye Shape and Position:
   • Marfan Syndrome: Features down-slanting palpebral fissures (outer corners of the eyes slant downward).
   • Vascular EDS: Lacks this slant but has large, prominent eyes, creating a different overall look.
2. Nose and Lips:
   • Marfan Syndrome: Typically lacks specific nose or lip features in its facial phenotype.
   • Vascular EDS: Presents a thin nose and lips and lobeless ears, contributing to a fragile facial appearance.
3. Cheekbone and Midface Structure:
   • Marfan Syndrome: Shows malar hypoplasia (underdeveloped cheekbones) and a flatter midface due to dolicocephaly.
   • Vascular EDS: Characterized by sunken cheeks, giving a hollow look that accentuates the cheekbones. This is due to soft tissue thinness rather than bone structure.
4. Head Shape:
   • Marfan Syndrome: Dolicocephaly (long, narrow head shape) is common, giving the face a longer, narrower look.
   • Vascular EDS: Typically lacks dolicocephaly, presenting a more delicate face due to thin tissues rather than head shape.
5. Age-Related Changes:
   • Marfan Syndrome: Features like down-slanting palpebral fissures and retrognathia are more prominent in youth and may become less noticeable with age.
   • Vascular EDS: Facial features remain consistent across ages as they are more related to soft tissue fragility than bone structure.

Summary

While vascular EDS and Marfan Syndrome share some general characteristics—such as facial thinness and a receding chin—they differ significantly in specific features. Vascular EDS is marked by large, prominent eyes, a thin nose and lips, and translucent skin, creating a delicate appearance. Marfan Syndrome’s facial features, in contrast, are more structural, with a long head shape, down-slanting palpebral fissures, and underdeveloped cheekbones, contributing to a narrow, elongated face with a flatter midface. These differences are important for clinicians when distinguishing between the two syndromes during assessment.

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More Connective Tissue Diseases with Distinctive Facial Features

In addition to vascular Ehlers-Danlos Syndrome (vEDS) and Marfan Syndrome, several other connective tissue disorders present with unique facial features that assist in diagnosis. Below, we describe Loeys-Dietz Syndrome, Stickler Syndrome, Congenital Contractural Arachnodactyly (Beals Syndrome), and Williams Syndrome, highlighting both similarities and differences with vEDS and Marfan Syndrome.

Facial Features of Loeys-Dietz Syndrome (LDS)

• Description: Loeys-Dietz Syndrome is a genetic connective tissue disorder with significant cardiovascular risk, including a high risk for aortic aneurysms, which it shares with Marfan Syndrome. Skeletal abnormalities like scoliosis and joint hypermobility are also common.
• Facial Features: Individuals with Loeys-Dietz Syndrome often have widely spaced eyes (hypertelorism), a broad forehead, a bifid or cleft uvula, and a downturned mouth. A small or recessed chin is also typical, contributing to a distinctive facial profile that aids in early recognition.
• Similarities to vEDS and Marfan Syndrome: Loeys-Dietz Syndrome and Marfan Syndrome share a similar tall, slender physique and a high risk of vascular complications, particularly aortic aneurysms.
• Differences from vEDS and Marfan Syndrome: The facial features of Loeys-Dietz Syndrome—such as hypertelorism, a bifid uvula, and a broad forehead—are distinct from those in vEDS and Marfan Syndrome. Unlike vEDS, Loeys-Dietz does not generally present with translucent skin, and the presence of widely spaced eyes and a cleft uvula help distinguish Loeys-Dietz from Marfan Syndrome.

Facial Features of Stickler Syndrome

• Description: Stickler Syndrome is a connective tissue disorder affecting the eyes, ears, joints, and facial structure, often diagnosed in early childhood due to associated craniofacial abnormalities.
• Facial Features: Stickler Syndrome is marked by a flat facial profile resulting from underdeveloped midfacial bones (malar hypoplasia). Many patients also present with Pierre Robin sequence, which includes a small jaw (micrognathia), cleft palate, and a tendency for airway obstruction.
• Similarities to vEDS and Marfan Syndrome: Stickler Syndrome shares some craniofacial similarities with vEDS, including micrognathia, and with Marfan Syndrome, such as a high-arched palate.
• Differences from vEDS and Marfan Syndrome: Stickler Syndrome’s flat midface profile due to malar hypoplasia, combined with Pierre Robin sequence, sets it apart from the elongated face in Marfan Syndrome and the translucent, fragile facial appearance in vEDS. These features help differentiate Stickler Syndrome from other connective tissue disorders.

Facial Features of Congenital Contractural Arachnodactyly (Beals Syndrome)

• Description: Congenital Contractural Arachnodactyly, commonly known as Beals Syndrome, is a connective tissue disorder that resembles Marfan Syndrome in its physical presentation but includes unique musculoskeletal and facial characteristics.
• Facial Features: Beals Syndrome is associated with a tall, narrow face, a small chin, and large, prominent ears. These features, combined with long fingers and toes (arachnodactyly), give Beals Syndrome a distinctive look among connective tissue disorders.
• Similarities to vEDS and Marfan Syndrome: Beals Syndrome and Marfan Syndrome share traits such as a tall, slender build, arachnodactyly, and a narrow face, which can lead to diagnostic overlap.
• Differences from vEDS and Marfan Syndrome: Unlike Marfan Syndrome, Beals Syndrome is not associated with cardiovascular complications, which helps differentiate it. The large, prominent ears and narrow facial structure in Beals Syndrome contrast with the prominent eyes and translucent skin in vEDS and the elongated face of Marfan Syndrome.

Facial Features of Williams Syndrome

• Description: Williams Syndrome is a genetic condition with connective tissue involvement that impacts multiple systems, including the cardiovascular system, though it is not exclusively a connective tissue disorder.
• Facial Features: Williams Syndrome is recognized by its unique “elfin” facial appearance, characterized by a broad forehead, upturned nose, full cheeks, and a wide mouth with full lips. These features create a distinctive facial profile often recognized in early childhood.
• Similarities to vEDS and Marfan Syndrome: Williams Syndrome shares some connective tissue involvement with vEDS and Marfan Syndrome and includes cardiovascular manifestations, though these are typically different in nature.
• Differences from vEDS and Marfan Syndrome: The “elfin” facial appearance of Williams Syndrome is markedly different from the facial profiles of both vEDS and Marfan Syndrome. Additionally, while Williams Syndrome involves cardiovascular issues like supravalvular aortic stenosis, it does not typically include the risk of aortic aneurysms seen in vEDS and Marfan Syndrome. This, along with its distinctive facial features, helps differentiate it from other connective tissue disorders.

Facial Features: Vascular EDS and Marfan Syndrome vs. Other Connective Tissue Diseases

While vascular Ehlers-Danlos Syndrome and Marfan Syndrome each have specific facial features—such as the prominent eyes and translucent skin in vEDS and the elongated face with down-slanting palpebral fissures in Marfan Syndrome—other connective tissue disorders show unique characteristics. Loeys-Dietz Syndrome’s hypertelorism and bifid uvula, Stickler Syndrome’s malar hypoplasia and Pierre Robin sequence, Beals Syndrome’s large ears and narrow face, and the “elfin” features of Williams Syndrome provide clinicians with critical visual markers. These facial distinctions, combined with associated physical and cardiovascular traits, assist in accurately diagnosing and distinguishing between these connective tissue disorders.

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Summary

In summary, facial features provide valuable clues for diagnosing connective tissue disorders, helping to differentiate between conditions with overlapping symptoms. Vascular Ehlers-Danlos Syndrome (vEDS) and Marfan Syndrome each exhibit unique facial profiles—vEDS with prominent eyes, translucent skin, and fragile facial features, and Marfan Syndrome with a long, narrow head, down-slanting eyes, and underdeveloped cheekbones. These differences serve as important markers for clinicians in identifying each disorder, particularly when combined with vascular or musculoskeletal symptoms.

Beyond vEDS and Marfan Syndrome, other connective tissue disorders such as Loeys-Dietz Syndrome, Stickler Syndrome, Beals Syndrome, and Williams Syndrome also have defining facial characteristics. Loeys-Dietz Syndrome includes features like hypertelorism and a cleft uvula, Stickler Syndrome is known for its flat midface and Pierre Robin sequence, Beals Syndrome for its narrow face and large ears, and Williams Syndrome for its distinct “elfin” facial profile. These facial markers, together with associated systemic traits, guide clinicians toward accurate diagnoses and allow for better-tailored patient care.

Recognizing these characteristic facial differences is helpful, as each syndrome comes with unique medical risks and management needs. When combined with genetic testing and a thorough clinical assessment, these facial characteristics enhance diagnostic accuracy and enable early intervention, ultimately improving patient outcomes.

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FAQ

Do people with Ehlers-Danlos look a certain way?

People with Ehlers-Danlos Syndrome do not have a universally distinct appearance, as facial characteristics vary widely by subtype. Vascular EDS has specific facial characteristics, such as prominent eyes and translucent skin, while hypermobile EDS typically does not involve consistent or recognizable facial features. Diagnosis requires a thorough medical evaluation beyond appearance. Overall, the physical appearance of someone with Ehlers-Danlos Syndrome depends on the subtype, with vascular EDS potentially presenting with prominent eyes, thin skin, and a small chin, giving a fragile look, while hypermobile EDS usually does not display specific facial traits.

What do people with hypermobile EDS look like?

People with hypermobile EDS (hEDS) generally do not have distinct or consistent facial features associated with the condition. Unlike vascular EDS, patients with hEDS may present with subtle facial characteristics, such as softer facial features or mild asymmetry, but these are highly variable and not diagnostic. Diagnosis of hEDS relies more on systemic symptoms like joint hypermobility, chronic pain, and musculoskeletal issues rather than specific facial traits.

Does EDS make you look older?

In some cases, EDS can affect appearance in ways that may make certain individuals look older or younger than their age. For example, in hypermobile EDS, collagen structure may result in soft, wrinkle-free skin, contributing to a youthful appearance. However, in vascular EDS, features such as thin, translucent skin, sunken cheeks, and prominent veins may contribute to a prematurely aged or “gaunt” appearance. Not all individuals with EDS exhibit an aged appearance, and this effect is more often associated with specific subtypes.

What are the symptoms of EDS in the face?

The facial symptoms of Ehlers-Danlos Syndrome vary by subtype. For example, vascular EDS (vEDS) often presents with specific facial features, including large, prominent eyes, a small chin, thin lips, sunken cheeks, and translucent skin that reveals underlying veins. In contrast, hypermobile EDS generally lacks distinct facial symptoms, making diagnosis reliant on broader systemic signs.

What are the craniofacial features of EDS?

The craniofacial features of Ehlers-Danlos Syndrome vary significantly by subtype. Vascular EDS is often associated with large, prominent eyes, a small chin, sunken cheeks, thin lips, and translucent skin that can reveal veins. Hypermobility EDS, on the other hand, typically lacks distinct craniofacial features. Some other subtypes may present mildly soft or broad facial features, but these are not as diagnostically significant as the distinct facial profile seen in vascular EDS.

What can be mistaken for Ehlers-Danlos?

Ehlers-Danlos Syndrome can sometimes be mistaken for other connective tissue disorders with overlapping symptoms, such as Marfan Syndrome, Loeys-Dietz Syndrome, and Stickler Syndrome. These conditions also involve joint hypermobility, cardiovascular risks, and certain craniofacial traits. Accurate diagnosis often relies on genetic testing and a comprehensive clinical evaluation to differentiate between these similar disorders.

What are the visual symptoms of EDS?

Visual symptoms in Ehlers-Danlos Syndrome may include visible bruising, especially in vascular EDS, where the skin can be so thin that underlying veins are visible. Additionally, patients with EDS may experience eye-related symptoms due to fragile connective tissue in the eyes, such as myopia (nearsightedness), astigmatism, or an increased risk of retinal issues. Visual appearance can also involve specific facial traits, especially in vascular EDS.

What are the facial signs of EDS?

Facial signs of Ehlers-Danlos Syndrome are most pronounced in vascular EDS. These may include large, prominent eyes, a small chin, thin lips, hollowed cheeks, and translucent skin. These characteristics create a distinctive facial profile that can assist clinicians in identifying vascular EDS. Outside of vascular EDS, most other EDS subtypes generally lack specific facial markers.

What is Ehlers-Danlos syndrome physical appearance?

The physical appearance of Ehlers-Danlos Syndrome varies widely by subtype. In vascular EDS, common features include translucent skin, prominent veins, a small chin, and large eyes, which contribute to a fragile and recognizable facial profile. In hypermobile EDS, physical appearance is less distinctive, with joint hypermobility as the primary visible symptom. Across all types, skin may be soft, and some individuals may have an increased tendency to bruise.

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References:

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