10 Key Signs and Symptoms of Marfan Syndrome You Should Know

Marfan syndrome is a genetic disorder that affects the body’s connective tissue, which provides support and structure to various organs and systems throughout the body. This inherited condition can impact multiple parts of the body, including the heart, blood vessels, bones, joints, and eyes. Understanding the symptoms of Marfan syndrome is crucial for early detection and proper management of this condition.

People with Marfan syndrome often share certain physical characteristics and health complications due to the weakened connective tissue. The severity of symptoms can vary significantly from person to person, even within the same family. While some individuals may experience mild symptoms, others may face life-threatening complications, particularly those involving the cardiovascular system.

In this comprehensive guide, we’ll explore the ten most common symptoms of Marfan syndrome to help you recognize the signs of this genetic condition.

1. Tall and Slender Body Frame

One of the most recognizable symptoms of Marfan syndrome is an unusually tall and thin body type. Individuals with this condition typically have:

• Disproportionately long arms, legs, fingers, and toes – The arm span often exceeds the person’s height
• Reduced body fat and muscle mass – This creates a lean, lanky appearance
• Long, narrow face – Facial features often appear elongated
• High, arched palate – The roof of the mouth may be abnormally shaped

This distinctive body habitus occurs because the defective connective tissue fails to regulate normal bone growth properly. The long bone growth plates remain open longer than usual, resulting in excessive longitudinal growth. However, it’s important to note that not everyone with Marfan syndrome will be exceptionally tall, and not all tall, thin people have this condition.

2. Chest Wall Abnormalities

Chest deformities are common skeletal manifestations of Marfan syndrome and can range from mild to severe. The two primary types include:

Pectus Excavatum (Sunken Chest): This occurs when the breastbone appears pushed inward, creating a caved-in or sunken appearance in the center of the chest. This deformity can sometimes compress the heart and lungs, potentially affecting their function.

Pectus Carinatum (Pigeon Chest): In this condition, the breastbone protrudes outward, creating a bird-like appearance. While typically less problematic than pectus excavatum, it can still cause physical discomfort and self-consciousness.

These chest wall abnormalities develop due to the weakness in the connective tissue that normally supports the rib cage structure. In some cases, these deformities may worsen during the rapid growth periods of childhood and adolescence. The severity of chest wall abnormalities can impact respiratory function and exercise tolerance.

3. Scoliosis and Spinal Curvature

Abnormal curvature of the spine is another frequent skeletal symptom in people with Marfan syndrome. This can manifest as:

• Scoliosis – Sideways curvature of the spine that often appears during adolescence
• Kyphosis – Forward rounding or hunching of the upper back
• Lordosis – Excessive inward curvature of the lower back

The weakened connective tissue in the spine cannot adequately support the vertebral column, leading to these abnormal curvatures. Scoliosis associated with Marfan syndrome may progress more rapidly than typical adolescent scoliosis, particularly during growth spurts. Severe spinal curvature can cause back pain, limit physical activity, and in extreme cases, affect lung and heart function by restricting the space available in the chest cavity. Regular monitoring by healthcare providers is essential to track any progression of spinal abnormalities.

4. Joint Hypermobility and Flexibility

Excessive joint flexibility, also known as hypermobility, is a characteristic feature of Marfan syndrome. People with this symptom may experience:

• Joints that bend beyond the normal range of motion – Particularly in the fingers, wrists, elbows, and knees
• Ability to perform unusual physical feats – Such as bending the thumb back to touch the forearm
• Flat feet – Due to loose ligaments in the feet
• Frequent joint dislocations – Especially in the shoulders, kneecaps, and jaw

While joint hypermobility might seem like an advantage for activities requiring flexibility, it actually increases the risk of joint injuries, chronic pain, and early-onset arthritis. The loose joints result from defective fibrillin-1 protein, which is essential for providing elasticity and strength to connective tissue. Many individuals with Marfan syndrome experience joint pain and instability that can interfere with daily activities and sports participation.

5. Cardiovascular Problems

Cardiovascular complications represent the most serious and potentially life-threatening symptoms of Marfan syndrome. The weakened connective tissue affects the heart and blood vessels, leading to:

Aortic Root Dilation: The aorta, the body’s largest blood vessel, can gradually widen at its origin point near the heart. This dilation stretches the aortic wall, making it thinner and weaker over time. If left unmonitored and untreated, this can progress to an aortic aneurysm.

Aortic Dissection: This is a medical emergency where the inner layer of the aortic wall tears, allowing blood to flow between the layers and potentially causing the aorta to rupture. Warning signs include sudden, severe chest or back pain.

Heart Valve Problems: The mitral and aortic valves may not close properly due to weakened connective tissue, causing blood to leak backward (regurgitation). This can lead to heart murmurs, fatigue, shortness of breath, and irregular heartbeats.

Regular cardiovascular monitoring through echocardiograms and other imaging studies is essential for all individuals with Marfan syndrome, even those without symptoms. Early detection of cardiovascular changes allows for timely medical intervention.

6. Eye Problems and Vision Issues

Ocular manifestations are present in a significant percentage of people with Marfan syndrome. Common eye-related symptoms include:

Lens Dislocation (Ectopia Lentis): This occurs when the lens of the eye shifts from its normal position due to weakness in the zonular fibers that hold it in place. The lens may be partially or completely dislocated, typically moving upward. This can cause blurred vision, double vision, or nearsightedness.

Severe Myopia (Nearsightedness): Many individuals with Marfan syndrome develop significant nearsightedness due to an elongated eyeball shape caused by weakened connective tissue in the eye structure.

Increased Risk of Retinal Detachment: The retina, the light-sensitive tissue at the back of the eye, may detach from its supporting layers, which can lead to vision loss if not treated promptly.

Early-Onset Cataracts and Glaucoma: People with Marfan syndrome may develop these conditions at a younger age than the general population.

Regular comprehensive eye examinations by an ophthalmologist familiar with Marfan syndrome are crucial for preserving vision and detecting problems early.

7. Stretch Marks Not Related to Weight Changes

Unexplained stretch marks, medically known as striae, are a common skin manifestation of Marfan syndrome. These marks have distinctive characteristics:

• Appear without significant weight gain or pregnancy – They develop due to the inherent weakness in the connective tissue of the skin
• Often located on the shoulders, hips, and lower back – Areas where the skin is subject to stretching
• May appear during adolescence – Particularly during periods of rapid growth
• Can be more prominent than typical stretch marks – They may be wider and more visible

These stretch marks occur because the defective fibrillin-1 protein cannot adequately support the dermis, the middle layer of skin. When the body grows rapidly or the skin is stretched, the weakened connective tissue tears, creating visible stretch marks. Unlike stretch marks caused by weight fluctuations, those associated with Marfan syndrome may appear even in individuals maintaining a stable, low body weight.

8. Crowded Teeth and Orthodontic Issues

Dental and facial symptoms related to Marfan syndrome include various orthodontic problems:

Crowded or Overlapping Teeth: The narrow jaw structure common in Marfan syndrome doesn’t provide adequate space for all teeth to emerge properly, resulting in crowding, rotation, and misalignment.

High, Arched Palate: The roof of the mouth is abnormally high and narrow, which can affect speech development in children and contribute to dental crowding.

Malocclusion: The upper and lower teeth may not fit together properly when biting, which can cause difficulties with chewing and increase the risk of temporomandibular joint (TMJ) problems.

Long, Narrow Face: The facial bones may be elongated, contributing to the characteristic facial appearance associated with Marfan syndrome.

These dental issues often require orthodontic intervention, and individuals with Marfan syndrome may need specialized dental care throughout their lives. Regular dental check-ups are important for maintaining oral health and addressing problems early.

9. Breathing Difficulties and Lung Problems

Respiratory symptoms in Marfan syndrome can result from several factors related to the weakened connective tissue:

Spontaneous Pneumothorax (Collapsed Lung): People with Marfan syndrome have an increased risk of spontaneous lung collapse, which occurs when air leaks into the space between the lung and chest wall. This can cause sudden chest pain and shortness of breath.

Sleep Apnea: The structural abnormalities in the face and throat, combined with the high-arched palate, can contribute to obstructive sleep apnea, where breathing repeatedly stops and starts during sleep.

Restrictive Lung Disease: Severe chest wall deformities and scoliosis can limit lung expansion, reducing lung capacity and causing breathlessness, particularly during physical activity.

Emphysema-like Changes: Some individuals may develop air sacs in the lungs (bullae) that can rupture and lead to breathing problems.

Anyone with Marfan syndrome who experiences sudden chest pain, persistent shortness of breath, or other respiratory symptoms should seek medical attention promptly, as these could indicate serious complications.

10. Dural Ectasia

Dural ectasia is a less visible but significant symptom that affects the spine and nervous system. This condition involves:

Weakening and Ballooning of the Dural Sac: The dura is the tough membrane that surrounds the spinal cord and contains cerebrospinal fluid. In Marfan syndrome, this membrane can weaken and stretch, particularly in the lower spine (lumbosacral region).

Symptoms May Include:

• Lower back pain that may be chronic and difficult to treat
• Leg pain, numbness, or weakness
• Headaches, particularly when upright
• Abdominal or pelvic pain
• Bowel or bladder dysfunction in severe cases

Dural ectasia is often discovered incidentally on MRI scans performed for other reasons, as it may not always cause symptoms. However, when symptoms are present, they can significantly impact quality of life. The condition is found in a large percentage of adults with Marfan syndrome and is considered one of the diagnostic criteria for the condition. Management typically focuses on symptom relief and monitoring for progression.

Main Causes of Marfan Syndrome

Marfan syndrome is caused by specific genetic factors that affect the body’s connective tissue. Understanding these causes helps explain why the condition develops and how it’s passed down through families.

Genetic Mutation in the FBN1 Gene: The primary cause of Marfan syndrome is a mutation in the FBN1 gene, located on chromosome 15. This gene provides instructions for making fibrillin-1, a protein that is essential for the proper formation of connective tissue fibers. When this gene is mutated, it produces abnormal or insufficient fibrillin-1 protein, leading to weakened connective tissue throughout the body.

Autosomal Dominant Inheritance: Marfan syndrome follows an autosomal dominant inheritance pattern, meaning that only one copy of the altered gene is sufficient to cause the disorder. If one parent has Marfan syndrome, each child has a 50% chance of inheriting the condition. The syndrome affects males and females equally.

Spontaneous Mutations: Approximately 25% of Marfan syndrome cases result from new (de novo) mutations, meaning the genetic change occurs spontaneously in an egg or sperm cell, or early in fetal development. In these cases, there is no family history of the condition, and neither parent carries the mutated gene. However, a person with a spontaneous mutation can still pass the condition to their children.

Advanced Paternal Age: Research has shown that advanced paternal age (older fathers) may be associated with an increased risk of new mutations causing Marfan syndrome, though the overall risk remains relatively low.

Variable Expression: Even within the same family sharing the identical genetic mutation, the severity of symptoms can vary widely due to variable expression. This means that genetic and environmental factors can influence how the mutation manifests in different individuals.

Frequently Asked Questions

What is the life expectancy of someone with Marfan syndrome?

With proper medical care and regular monitoring, many people with Marfan syndrome can live a normal or near-normal lifespan. Early diagnosis and appropriate cardiovascular management have significantly improved life expectancy over the past few decades. Without treatment, the average lifespan was historically reduced, but with modern medical advances, many individuals live well into their 70s or beyond.

Can Marfan syndrome be detected before birth?

Yes, if there is a known family history of Marfan syndrome and the specific genetic mutation has been identified in the family, prenatal testing through amniocentesis or chorionic villus sampling can detect the condition during pregnancy. However, routine prenatal ultrasounds typically cannot diagnose Marfan syndrome, as most physical features develop after birth.

Is Marfan syndrome painful?

Pain experiences vary among individuals with Marfan syndrome. Many people experience chronic joint pain due to hypermobility and instability, back pain from scoliosis or dural ectasia, and chest pain from cardiovascular complications. However, not everyone with Marfan syndrome experiences significant pain, and when present, it can often be managed with appropriate medical care.

Can you develop Marfan syndrome later in life?

No, Marfan syndrome is a genetic condition that is present from birth, even if symptoms are not immediately apparent. However, some symptoms may not become noticeable until childhood, adolescence, or even adulthood. The condition may be diagnosed later in life when symptoms become more evident or when complications develop, but the underlying genetic mutation has been present since conception.

What triggers a Marfan syndrome crisis?

The most serious crisis in Marfan syndrome is aortic dissection, which can be triggered by activities that suddenly increase blood pressure, such as intense physical exertion, heavy lifting, contact sports, or emotional stress. However, dissection can also occur without an obvious trigger. This is why regular cardiovascular monitoring and following medical recommendations regarding physical activity limitations are crucial.

How is Marfan syndrome diagnosed?

Diagnosis is based on a combination of clinical examination, family history, genetic testing, and imaging studies. Healthcare providers use established diagnostic criteria (the Ghent nosology) that consider skeletal features, cardiovascular findings, eye problems, genetic test results, and family history. No single test can definitively diagnose Marfan syndrome; rather, multiple factors are evaluated together.

Can people with Marfan syndrome play sports?

Physical activity recommendations depend on the individual’s specific symptoms and severity, particularly cardiovascular involvement. Low-intensity activities like walking, swimming, or golf are generally safe for most people. However, contact sports, competitive athletics, and activities involving intense physical exertion or risk of chest trauma are typically discouraged due to the risk of aortic dissection. Each person should discuss appropriate activity levels with their healthcare provider.

Is Marfan syndrome the same as Ehlers-Danlos syndrome?

No, while both are connective tissue disorders that share some similar features like joint hypermobility, they are distinct conditions caused by different genetic mutations. Marfan syndrome is caused by mutations in the FBN1 gene affecting fibrillin-1, while Ehlers-Danlos syndrome encompasses several subtypes caused by mutations in various genes affecting collagen. Each condition has unique diagnostic criteria and specific complications.

References:

• Mayo Clinic – Marfan Syndrome
• National Heart, Lung, and Blood Institute – Marfan Syndrome
• The Marfan Foundation
• National Organization for Rare Disorders – Marfan Syndrome
• Johns Hopkins Medicine – Marfan Syndrome
• MedlinePlus – Marfan Syndrome