Related Disorders
This page was last updated on: September 2, 2002
There many conditions that are similar to Marfan's, and as a result the NMF has expanded some of their services to help those with these conditions. In addition the Oregon Chapter will also try to use this page to help those in Oregon who may be dealing with a related connective tissue disorder. This page is provided to help link those affected, and to help each other become resourses to each other as we all learn more about our respective conditions.
If you have suggestions or comments, feel free to email me!
*** Stickler syndrome - Stickler syndrome is a connective tissue disorder, a genetic malfunction in the tissue
that connects bones, heart, eyes, and ears. This disorder is associated with problems vision, hearing, bone and joint , facial and cleft palate, and heart.
Vision: Near sightedness, astigmatism, and cataracts, retina deterioration, and retnal detactment
Hearing: Affects either the middle or inner ear occationally leading to deafness
Bone and Joint: Arthritis, abnormality to ends of long bones, vertebrae abnormality, curvature of the spine, hunchback, joint pain, knock knee, and double jointedness. These will tend to worsen with age.
Facial and Cleft Palate problems: Flat cheeks, flat nasal bridge, small upper jaw, pronounced upper lip groove, small lower jaw, and palate abnormalities. Approximately 30% have Pierre Robin sequence.
Heart: The heart problem known to be associated with Stickler syndrome is Mitral Valve Prolapse.
Because of a recent tenetive diagnosis of Stickler's syndrome of one of the Executive Board members, an Oregon Stickler's page is being worked on and should be up hopefully by Sept - Oct 2002.
*** Ehlers-Danlos syndrome (EDS) - A group of heritable connective tissue disorders, characterized by joint hypermobility, skin extensibility and tissue fragility. There are six major types of EDS. Individuals with EDS have a defect in their connective tissue, the tissue which provides support to many body parts such as the skin, muscles and ligaments. The fragile skin and unstable joints found in EDS are the result of faulty collagen. Collagen is a protein which acts as a "glue" in the body, adding strength and elasticity to connective tissue. The prognosis of EDS depends on the specific type. Life expectancy can be shortened with the Vascular Type of EDS (type 4) due to the possibility of organ and vessel rupture. Life expectancy in all other types is normal.
Beal's syndrome aka congenital contractural arachnodactyly - Currently being researched at OHSU. (More to come about the newest research.) Beals syndrome is a genetic condition that is related to, but distinct from, the Marfan syndrome. Individuals with Beals syndrome have many of the skeletal problems that affect individuals with the Marfan syndrome, and the treatment of the complications is the same. Additionally, they can be born with contractures of some of their joints (an inability to fully extend a joint) and abnormally shaped ears. Individuals with Beals syndrome do not have eye problems and do not have the same heart and aortic problems that are found in the Marfan syndrome. Research has shown that the cause of Beals syndrome is an alteration ( mutation) in a gene (FBN2) that is closely related to the gene (FBN1) that causes the Marfan syndrome.
*** MASS phenotype (Myopia, Mitral valve prolapse, Aortic root dilatation, Skin and Skeletal characteristics)
The MASS phenotype is an acronym assigned to the following combination of clinical features: mitral valve prolapse, aortic root diameter at the upper limits of normal, stretch marks, and skeletal features of the Marfan syndrome (including scoliosis, pectus excavatum or carinatum, and joint hypermobility). The aortic root diameter may be at the upper limits of normal for body size, but there is no progression to aneurysm or predisposition to dissection. This condition can be inherited within families and has been shown to result from mutations in the FBN1 gene.
*** Familial aortic dissection
*** Familial ectopia lentis - Lens dislocation (ectopia lentis) occurs in approximately 65% of people with the
Marfan syndrome. Lens dislocation is a feature of two other syndromes, homocystinuria and Weill-Marchesani syndrome. Homocystinuria is a metabolic disorder in which a specific amino acid is incorrectly metabolized. Weill-Marchesani syndrome is a disorder in which affected individuals are short with broad fingers and malformed and malalined teeth. Homocystinuria can be diagnosed by a urine and/or blood tests; these should be done on any individual with lens dislocation. Weill-Marchesani can be distinguished from the Marfan syndrome through evaluation by a physician familiar with both conditions.
*** Familial mitral valve prolapse - Mitral valve prolapse can be inherited within families and can occur in individuals with skeletal features of the Marfan syndrome. Mitral valve prolapse is a frequent occurrence in individuals with the Marfan syndrome , but also occurs commonly in individuals who do not have the Marfan syndrome. Mitral valve prolapse occurs when one of the valves of the heart (specifically the mitral valve) closes properly but then "billows" backward. Mitral valve prolapse usually does not cause any symptoms; however, it is sometimes associated with an irregular or rapid heartbeat. Although this does not lead to complications, antibiotic prophylaxis for routine dental procedures is recommended.
*** Familial Marfanoid habitus (only the skeletal characteristics of the Marfan syndrome). The skeletal complications of the Marfan syndrome affect the bones and ligaments. These problems are not life-threatening but may cause considerable discomfort and disability in affected people. Many individuals
have similar skeletal problems as people with the Marfan syndrome but do not have the aortic and eye problems that characterize the Marfan syndrome.
