In addition to the excerpts from Dr. Fox’s post below, I have included links to the outstanding resources on the site marfan.org, The Marfan Foundation.
On The Marfan Foundation site there are resources on a number of syndromes that are related to Marfan’s Syndrome. The following links are to diagnostic pdfs downloads on the Marfan site: Loeys-Dietz Syndrome, Vascular Ehler-Danlos Syndrome and Ehler-Danlos Hypermobility Syndrome, Familial Thoracic Aortic Aneurysm and Dissection, Mass Phenotype, Ectopia Lentis Syndrome, Beal’s Syndrome, Bicuspid Aortic Valve, Stickler Syndrome, Shprintzen-Goldberg Syndrome.
The following are excerpts from Dr. Sean Fox’s post on Marfan Sydrome from his excellent site Pediatric Emergency Morsels:
Marfan Syndrome: Clinical Features
Variance in the expression of the condition exists.
Not all patients will be affected the same.
Features may be present at birth or develop later.
May be diagnosed in adulthood.
Patients diagnosed earlier appear to have better clinical courses than those diagnosed later in life. [Willis, 2009]
Some of the clinical features are: [Kaemmerer, 2005; Pediatrics, 1996; Marfan.org]Skeletal
Pecutus excavatum or Pecuts carinatum
Arm span:Height ratio >1.05
Thumb sign
Able to extend thumb beyond ulnar border of the hand when hand is flexed.
Wrist sign
Able to overlap the distal tips of the thumb and index finger when wrapped around contralateral wrist.
Scoliosis >20 degrees
Reduced extension of the elbows (<170 degrees)
High arched palate with crowding of the teethCardiovascular
Aortic aneurysm
~50-83% of kids with Marfan syndrome have dilation of the aortic root. [van Karnebeek, 2001]
Mitral valve prolapse
Diagnosed at a mean age of 9.7 years. [van Karnebeek, 2001]
Dilation of the main pulmonary artery
Calcification of the mitral annulus in patients < 40 years of age
Neonatal Marfans Syndrome presents with rapidly progressive and potentially fatal cardiovascular complications.Ocular
Severe nearsightedness
Early glaucoma / cataracts
Flat corneaPulmonary
Apical blebs
Asthma / reactive airway diseaseNervous
Lumbosacral dural ectasia
Gastrointestinal
May develop colonic diverticula at early age. [Santin, 2009]Dermatologic
Stretch marks (striae)Marfan Syndrome: The Emergencies
Aortic dissection
Obviously, this is the most feared and greatest concern!
Fibrillin-1 is primarily expressed in the ascending aorta.
Dissections typically in the second decade of life.There are other conditions that may require emergent evaluation and treatment:
Pneumothorax
Occurs in ~5% of patientsCor Pulmonale
May develop due to severe and progressive chest wall deformities and scoliosis leading to mechanical restrictions.Dislocation of the lens of the eye
~50-80% of cases have lens dislocation.
Often the ophthalmologist may be the first to make the diagnosis.Retinal detachment
Occurs in ~16% of cases.
The Marfan Foundation site has a number of outstanding resources on Marfan’s syndrome and related conditions:
There are disorders related to Marfan syndrome that can cause people to struggle with some of the same or similar physical problems. Some examples are Loeys-Dietz syndrome, Ehlers-Danlos syndrome, and Familial Thoracic Aortic Aneurysm and Dissection.
Disorders related to Marfan syndrome can also cut lives short, particularly when they go unchecked, and they can deeply affect the quality of life of the individuals and families who must cope with them. Just like people with Marfan syndrome, those affected by related disorders need early and accurate diagnosis to ensure they receive proper care and treatment.Many of these disorders are genetic conditions that, like Marfan syndrome, cause the aorta (the main blood vessel that carries blood from the heart to the rest of the body) to enlarge, a problem that requires medicine and regular monitoring to determine appropriate treatment. Other features that may overlap with Marfan syndrome include those involving the heart, bones, joints and eyes.
Loeys-Dietz syndrome is a genetic disorder of the body’s connective tissue. It has some features in common with Marfan syndrome, but it also has some important differences.
People with Loeys-Dietz syndrome features need to see a doctor who knows about the condition to decide if they have the disorder; often this will be a medical geneticist. It is very important that people with Loeys-Dietz syndrome get an early and correct diagnosis so they can get the right treatment.
Because connective tissue is found throughout the body, Loeys-Dietz syndrome features can occur throughout the body, too, including the heart, blood vessels, bones, joints, skin, and internal organs such as the intestines, spleen, and uterus.
One of the key features of Loeys-Dietz syndrome is an enlargement of the aorta, the large blood vessel that carries blood from the heart to the rest of the body. The aorta can weaken and stretch, causing a bulge in the blood vessel wall (an aneurysm). Stretching of the aorta may also lead to a sudden tearing of the layers in the aorta wall (aortic dissection). This is a life-threatening complication that can occur without warning. In Loeys-Dietz syndrome, aneurysms and dissections also can occur in arteries other than the aorta.
Ehlers-Danlos syndrome is a group of genetic connective tissue disorders characterized by unstable, hypermobile joints, loose, “stretchy” skin, and fragile tissues.
People with Ehlers-Danlos features need to see a doctor who knows about this and other connective tissue disorders for an accurate diagnosis; often this will be a medical geneticist. It is very important that people with Ehlers-Danlos syndrome are diagnosed early so they can begin the right treatments to prevent serious complications.
What causes Ehlers-Danlos syndrome?
Like Marfan syndrome, Ehlers-Danlos syndrome is caused by a defect in the body’s connective tissue. Unlike Marfan syndrome, the fragile tissues and skin and unstable joints found in Ehlers-Danlos syndrome are due to defects in a group of proteins called collagen, proteins that add strength and elasticity to connective tissue.
What are the types of Ehlers-Danlos syndrome?
There are several different types of Ehlers-Danlos syndrome, each with its own set of features and complications. The most common form of Ehlers-Danlos syndrome is Ehlers-Danlos Hypermobility Type. It is characterized by loose joints and chronic (long-term) joint pain. Other forms of Ehlers-Danlos syndrome can involve serious and potentially life-threatening complications. These include:
Vascular Ehlers-Danlos syndrome, which can cause blood vessels to tear (rupture) unpredictably. This can lead to internal bleeding, stroke, and shock. Vascular Ehlers-Danlos syndrome is also associated with an increased risk of organ rupture, including tearing of the intestine and rupture of the uterus (womb) during pregnancy.
Kyphoscoliosis form of Ehlers-Danlos syndrome, which is associated with severe, progressive curvature of the spine that can interfere with breathing.FAMILIAL THORACIC AORTIC ANEURYSM AND DISSECTION
What is thoracic aortic aneurysm and dissection?
A thoracic aortic aneurysm is an enlargement of the aorta (the main blood vessel that carries blood away from the heart to the rest of the body) in the part of the body called the thoracic cavity (the chest area enclosed by the ribs and containing the lungs and heart).
If the aneurysm is not surgically repaired, it can lead to aortic dissection (a sudden tear of the inner wall of the aorta that allows blood to flow between the aorta’s inner and outer walls).
Early detection and treatment are critical because both aortic aneurysms and dissections increase the risk that the aorta will suddenly burst (rupture), causing massive internal bleeding. Without surgery to prevent aortic rupture, these blood vessel abnormalities can be life- threatening.
What is familial thoracic aortic aneurysm and dissection?
About 20 percent of people with thoracic aortic aneurysm and dissection have a genetic predisposition to it, meaning it runs in the family. This type is known as familial thoracic aneurysm and dissection.
Many people don’t know they have a genetic predisposition to thoracic aortic aneurysm and dissection. First-degree relatives (i.e., parents, children, siblings) of individuals known to have thoracic aortic aneurysm should be screened for the condition.
What are the key features of familial thoracic aortic aneurysm and dissection?
Aortic enlargement (dilatation) is generally the first feature of familial thoracic aortic aneurysm and dissection to develop. People may develop aneurysms or aortic dissections at any time in their lives. Even within the same family, the occurrence and timing of these problems can vary.
What are the symptoms of familial thoracic aorta aneurysm and dissection?
Symptoms of aortic aneurysm may be related to the location, size and growth rate of the aneurysm and can include:
Pain in the chest, neck, and/or back
Swelling of the head, neck, and arms
Coughing, wheezing, or shortness of breath
Coughing up blood
Symptoms of aortic dissection usually appear suddenly and may include:Severed, sudden, constant chest pain and/or upper back pain, sometimes described as “ripping” or “tearing”
Pain that feels like it is moving from one place to another
Unusually pale skin
Faint pulse
Numbness or tingling
ParalysisIn some instances, there may be no pain but a sense that there is something terribly “wrong.”
If a dissection is suspected, a person needs immediate medical attention and should go to a hospital emergency department right away.What is MASS Phenotype?
MASS Phenotype is a connective tissue disorder that is similar to Marfan syndrome. It is caused by a similar mutation in the gene called fibrillin-1 that tells the body how to make an important protein found in connective tissue. Someone with MASS phenotype has a 50 percent chance of passing the gene along to each child.
People with features of MASS Phenotype need to see a doctor who knows about connective tissue disorders for an accurate diagnosis; often this will be a medical geneticist. It is very important that people with MASS Phenotype get an early and correct diagnosis so they can get the right treatment.
MASS stands for the Mitral valve, myopia, Aorta, Skin and Skeletal features of the disorder. MASS Phenotype affects different people in different ways.
In MASS Phenotype:
Mitral valve prolapse may be present. This is when the flaps of one of the heart’s valves (the mitral valve, which regulates blood flow on the left side of the heart) are “floppy” and don’t close tightly.
Aortic root diameter may be at the upper limits of normal for body size, but unlike Marfan syndrome there is not progression to aneurysm or predisposition to dissection.
Skin may show stretch marks unrelated to weight gain or loss (striae).
Skeletal features, including curvature of the spine (scoliosis), chest wall deformities, and joint hypermobility, may be present.
People with MASS Phenotype do not have lens dislocation but have myopia, also known as nearsightedness.What is ectopia lentis syndrome?
Ectopia lentis syndrome is an inherited connective tissue disorder that shares some of the features of Marfan syndrome – particularly lens dislocation of the eye, which can cause serious vision problems.
People with features of ectopia lentis syndrome need to see a doctor who knows about connective tissue disorders for an accurate diagnosis; often this will be a medical geneticist. It is very important that people with familial ectopia lentis get an early and correct diagnosis so they can get the right treatment.
How does ectopia lentis syndrome compare with Marfan syndrome?
A person may be diagnosed with ectopic lentis syndrome when they inherit the skeletal features of Marfan syndrome (e.g., long arms, legs and fingers; tall thin body type; curved spine, etc.) together with lens dislocation of the eye, but have no other Marfan features such as those affecting the heart and blood vessels. Regular monitoring that includes frequent echocardiograms (imaging of the heart and blood vessels) is the only way to tell the difference between Marfan syndrome and ectopia lentis syndrome.
What is lens dislocation?
The lens is the transparent structure inside the eye that focuses light rays onto the retina (the nerve layer that lines the back of the eye, senses light, and creates impulses that go through the optic nerve to the brain). Lens dislocation is when the lens is a bit off-center to completely floating. It can only be confirmed by an eye doctor through a special test called a slit-lamp eye examination (after fully dilating the pupil). Lens dislocation may lead to the more serious complication of retinal detachment (when the membrane in the back of eye separates from its supporting layers).
What are symptoms of lens dislocation?
Symptoms of lens dislocation include:
Nearsightedness (myopia)
Astigmatism (blurred vision due to an irregularity in the curvature of the front surface of the eye, the cornea)
Fluctuating or blurred visionBeals syndrome and Marfan syndrome are similar in many ways, but there are also some important differences, specifically how the joints are affected. It is important for people with features of Beals syndrome to obtain an accurate diagnosis so they can benefit from treatments, such as physical therapy, to improve joint mobility as soon as possible.
What is Beals syndrome?
Beals syndrome is caused by a mutation in a gene that helps build connective tissue called fibrillin-2. It is closely related to the gene (fibrillin-1) that causes Marfan syndrome. Beals syndrome is also known as congenital contractural arachnoldactyly (CCA), which refers to the joint contractures (shortening) that are key features of the syndrome.
How does Beals syndrome compare with Marfan syndrome?
People with Beals syndrome have many of the skeletal (bone) and aortic enlargement problems as people with Marfan syndrome, and treatments for these problems are the same.
One difference from Marfan syndrome is that, in Beals syndrome, the eyes are not affected. Another major difference is the way in which Beals syndrome affects the body’s joints. People with Beals syndrome are unable to fully extend joints like their fingers, elbows, knees, toes, and hips. Their joints remain bent and deformed. When joints remain contracted for long periods of time, the muscles can become tight and short, restricting movement. When contractures are present at birth (congenital), they can delay motor development.
Other common symptoms of Beals syndrome include:
Long, slender fingers and toes
Long, narrow body type
Curved spine (scoliosis)
Backward or lateral curved spine at birth or early childhood
Chest sinks in or sticks out
Reduced bone mass
Facial abnormalities (unusually small jaws, high-arched palate)
Crumpled appearance to the top of the ear
Aortic enlargement and/or mitral valve regurgitation (occasionally)
People with Beals syndrome should also have their heart monitored on a yearly basis to check for cardiovascular complications that may arise.Normally, the aortic valve has three flaps controlling this blood flow. In a person with Bicuspid Aortic Valve, there are only two flaps and the valve may not be able to completely stop blood from leaking back into the heart. In addition, the aortic valve may become stiff (aortic stenosis), making the heart pump harder to get past the valve. The aorta may also become enlarged.
What are the signs and symptoms of bicuspid aortic valve?
People with bicuspid aortic valve may have abnormal coronary arteries (blood vessels that branch off from the aorta near the heart), an aortic aneurysm, an abnormal thoracic aorta (the portion of the aorta that passes through the upper chest), and unstable high blood pressure.
Other signs of bicuspid aortic valve include:
Enlarged heart
Heart murmur
Weak pulse in the wrists and ankles
Aortic stenosis
Aortic regurgitationStickler syndrome is a genetic disorder caused by mutations in genes that are responsible for forming collagen, proteins which add strength and elasticity to connective tissue. Stickler syndrome affects connective tissue throughout the body, but most notably in the eyes (it is the most common cause of retinal detachment in children), ears, face, and joints.
Stickler syndrome affects 1 out of every 7,500 people, but experts believe that it is widely under-diagnosed. While there is no medical cure for Stickler syndrome, when it is identified early, there is a lot that people can do to treat the problems it causes.
Symptoms include:
Eye problems including nearsightedness, cataracts and retinal detachment
Hearing loss
Facial abnormalities, such as cleft palate
Short stature in comparison to unaffected siblings
Some body type features that are similar to Marfan syndrome, except tall stature
Usually people don’t have all of these symptoms and the features can vary widely from person to person. Even members of the same family can have different symptoms. Or, a person may have multiple symptoms but only one that is is severe enough to trigger a diagnosis.Stickler syndrome is a genetic disorder caused by mutations in genes that are responsible for forming collagen, proteins which add strength and elasticity to connective tissue. Stickler syndrome affects connective tissue throughout the body, but most notably in the eyes (it is the most common cause of retinal detachment in children), ears, face, and joints.
Stickler syndrome affects 1 out of every 7,500 people, but experts believe that it is widely under-diagnosed. While there is no medical cure for Stickler syndrome, when it is identified early, there is a lot that people can do to treat the problems it causes.
Symptoms include:
Eye problems including nearsightedness, cataracts and retinal detachment
Hearing loss
Facial abnormalities, such as cleft palate
Short stature in comparison to unaffected siblings
Some body type features that are similar to Marfan syndrome, except tall stature
Usually people don’t have all of these symptoms and the features can vary widely from person to person. Even members of the same family can have different symptoms. Or, a person may have multiple symptoms but only one that is is severe enough to trigger a diagnosis.
