What disease is similar to Marfan syndrome?
Examples of conditions that appear similar but have specific management are Loeys-Dietz syndrome and vascular Ehlers-Danlos syndrome.
What is the difference between Marfan and Loeys-Dietz syndrome?
Typically in Marfan syndrome surgery is considered when the aorta is around 5 cm; however, in Loeys-Dietz syndrome it has been recognized that individuals with aortic root measurements of 4 cm have shown aortic root dissection (in teens/adults).
Is Marfan syndrome a connective tissue disorder?
Overview. Marfan syndrome is an inherited disorder that affects connective tissue — the fibers that support and anchor your organs and other structures in your body. Marfan syndrome most commonly affects the heart, eyes, blood vessels and skeleton.
What is the difference between Ehlers-Danlos and Marfan syndrome?
Differential diagnosis EDS should be distinguished from Marfan syndrome (MFS), the clinical and molecular features of which are discussed below. In EDS, the skin fragility is more prominent, and joint hypermobility is usually more severe.
What is Beals Hecht syndrome?
Beals-Hecht syndrome, also known as congenital contractural arachnodactyly, is caused by a defect in fibrillin as in Marfan syndrome. This syndrome is characterized by a multitude of clinical findings including arachnodactyly, narrow body habitus, scoliosis, congenital contractures, and external ear deformities.
How can you tell the difference between Marfan and homocystinuria?
Patients with homocystinuria frequently have osteoporosis at a young age with a high incidence of vertebral involvement including biconcavity and flattening. Patients with Marfan’s syndrome do not have osteoporosis and may have excessively tall vertebrae.
What are the 4 main types of connective tissues?
The extracellular matrix between the cells usually includes fibers of one or more types embedded in an amorphous ground substance. Connective tissues are classified into four classes: BLOOD, BONE, CARTILAGE, CONNECTIVE TISSUE PROPER.
What is Schinzel giedion syndrome?
General Discussion. Schinzel Giedion syndrome (SGS) is a very rare genetic disorder with characteristic facial features, skeletal abnormalities, and obstruction of the tube that carries urine from the kidney to the bladder (ureter). This obstruction may lead to enlarged and damaged kidneys (hydronephrosis).
Can you have Marfan syndrome and Ehlers Danlos?
Differential diagnosis Although patients with the kyphoscoliosis type of EDS, and occasionally patients with the hypermobility type of EDS, can present with a marfanoid habitus, the association with ectopia lentis and/or aortic dilatation or aneurysm is strongly suggestive for MFS.
Are there different types of Marfan syndrome?
Neonatal Marfan syndrome is a different entity than Marfan syndrome. It has early onset and rapidly progressive features, most seriously related to the heart, lungs, and airways.