There are several other conditions which have similarities to Marfan syndrome. These include:
Marfan Habitus (Marfan Skeletal Features)
Many individuals have skeletal features that are similar to Marfan syndrome, but do they not have the aortic and eye problems that are characteristic of Marfan syndrome. This is called Marfan Habitus (or Marfanoid or Marfan-like Habitus). Often the skeletal features are inherited in families and can result from mutations in the same gene that causes Marfan syndrome.
Individuals who do not have Marfan syndrome can have one or many of these skeletal problems. These problems are not life-threatening, but some may cause discomfort and disability in affected individuals. Many of the skeletal features do not require treatment for most individuals unless they become symptomatic and interfere with daily routines.
It is recommended that individuals with major skeletal manifestations of Marfan syndrome have a thorough evaluation for the condition, including echocardiogram and ophthalmologic examination. Continued cardiac follow-up with echocardiograms every few years is recommended.
Skeletal features include:
- Long, thin arms and legs, which are out of proportion to the trunk causing the armspan to be greater than the height
- Long, thin fingers and toes
- Curvature of the spine (scoliosis)
- Chest wall abnormalities (pectus excavatum/or indented chestbone or pectus carinatum/protruding chestbone)
- Flat feet (pes planus)
- Loose or hyperextensible joints
- Highly arched roof of the mouth (palate) leading to crowding of the front teeth.
Ehlers-Danlos syndrome (EDS) is a group of genetic connective tissue disorders characterized by unstable, hyper-mobile joints, loose, “stretchy” skin and tissue fragility. Like Marfan syndrome, it is caused by a defect in the connective tissue. The fragile tissues and skin and unstable joints found in EDS are due to faulty collagen, while the features of Marfan syndrome are due to faulty fibrillin-1 and an over-expression of TGFβ. Collagens and fibrillin-1are proteins that add strength and elasticity to connective
There are several different types of EDS, each with its own set of features and complications. Some forms of Ehlers-Danlos syndrome, notably the vascular and kyphoscoliosis types, can involve serious and potentially life-threatening complications. Blood vessels can tear (rupture) unpredictably, causing internal bleeding, stroke, and shock. The vascular type of 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. People with the kyphoscoliosis form of Ehlers-Danlos syndrome experience severe, progressive curvature of the spine that can interfere with breathing.
For more information about Ehlers-Danlos syndrome, visit the Ehlers-Danlos National Foundation at http://www.ednf.org/ or the Ehlers-Danlos Network CARES at http://www.ehlersdanlosnetwork.org/.
Bicuspid Aortic Valve
Bicuspid Aortic Valve (BAV) is an abnormality of the aortic valve in which the valve consists of only two leaflets (bicuspid) instead of the normal three leaflets (tricuspid). It is inherited in an autosomal dominant manner, meaning that if a person has bicuspid aortic valve, they have a 50-50 chance of passing it on to each child.
In most cases, people with bicuspid aortic valves do not have any symptoms associated with it. However, aortic dilation occurs in a subset of individuals which can lead to a leaky aortic valve (aortic insufficiency) and an increased chance of aortic dissection. Severe cases of aortic insufficiency may require valve replacement surgery.
Yearly monitoring by echocardiogram to assess valve function and aortic diameter (both aortic root and ascending aorta) is recommended. If good visualization through and echocardiogram is not possible, CT scan or MRI is recommended.
Prophylactic antibiotics are recommended by the American Heart Association prior to dental or surgical procedures.
For more information on Bicuspid Aortic Valve, visit the Bicuspid Aortic Foundation at http://bicuspidfoundation.com/.
Stickler syndrome is an autosomal dominant disorder caused by mutations in collagen genes.
- Ocular findings of myopia (nearsightedness), cataracts, and retinal detachment
- Hearing loss
- Facial abnormalities sometime including cleft palate
- Early onset arthritis
- Short stature in comparison to unaffected siblings
- Some individuals have body type similar to Marfan syndrome, but do not have tall stature.
For more information about Stickler Syndrome, visit Stickler Involved People at http://www.sticklers.org/sip2/.
Shprintzen-Goldberg syndrome (SGS) is characterized by craniosynostosis (premature fusing of the skull bones), neurologic and brain anomalies, distinctive craniofacial features, and skeletal changes.
Cardiovascular problems may occur but aortic root dilatation is most likely not found in individuals people with SGS. Minimal subcutaneous fat, abdominal wall defects, cryptorchidism in males, and myopia are also characteristic findings.
Both males and females may be affected.
- Small, abnormally shaped skull, narrow face, small chin sometimes with cleft palate
- Tall stature with long, slim arms and legs with long, spider-like fingers and toes
- Joint hypermobility
- Developmental delay, learning problems
- Heart defects
Homocystinuria is an inherited metabolic disorder in which the body is unable to process certain building blocks of proteins (amino acids) properly. The most common form of the condition is caused by the lack of an enzyme called cystathionine beta-synthase. This form of homocystinuria is characterized by dislocation of the lens in the eye, an increased risk of abnormal blood clots, and skeletal abnormalities. Problems with development and learning are also evident in some cases.
Less common forms of homocystinuria are caused by a lack of other enzymes involved in processing amino acids. These disorders can cause mental retardation, seizures, problems with movement, and a blood disorder called megaloblastic anemia.
Homocystinuria can be diagnosed by urine and/or blood tests, and should be done on any individual with lens dislocation.
- Nearsightedness (myopia)
- Dislocated lens of the eye (ectopia lentis)
- Tendency to develop blood clots (thrombosis)
- Failure to thrive in newborns and/or developmental delays
- Tall stature with long thin limbs and fingers, chest deformities, scoliosis
Homocystinuria can be treated with dietary modifications and supplements in addition to medications, such as trimethylglycine (betaine) or vitamin B6 (pyridoxine).
Can be inherited in an autosomal recessive manner.
Weill-Marchesani syndrome (WMS) is a connective tissue disorder characterized by abnormalities of the lens of the eye, proportionate short stature, brachydactyly, and joint stiffness. The ocular problems, typically recognized in childhood, include microspherophakia (small spherical lens), myopia secondary to the abnormal shape of the lens, ectopia lentis (abnormal position of the lens), and glaucoma, which can lead to blindness. Height of adult males is 142-169 cm; height of adult females is 130-157 cm. Autosomal recessive and autosomal dominant WMS cannot be distinguished by clinical findings alone.
- Eye anomalies including microspherophakia and ectopia lentis
- Short stature
- Joint stiffness
- Heart defects (occasional)