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Leopard Syndrome Essay

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Leopard Syndrome
The disease discussed in this paper is characterized by an acronym of associated symptoms that are experienced by diagnosed patients. Leopard Syndrome is a rare autosomal dominant disease that is caused by a missense mutation in the PTTPN11 gene, which encodes for a key protein involved in the RAS/MAPK pathway for cells when they mature, proliferate, or even apoptose; this pathway is essential for these cellular actions. If interfered with, an array of symptoms, including lentigines, electrocardiographic conduction defects, abnormal genitalia, pulmonary stenosis, abnormal genitalia, growth retardation, and deafness, may be observed. Although Leopard Syndrome is a rare disease that is not commonly found in everyday life, more …show more content…
75 percent of individuals with Leopard Syndrome exhibit some type of cardiac related symptoms (Sarkozy, 2008). This may be due to a heart blockage that could be complete or incomplete. Because of the abnormal conduction, uncoordinated contractions among the atria and ventricles are observed. The ventricle contractions may be delayed or even occur less often (NORD, 2012). For example, the atria could contract twice before a single ventricular contraction. A simple ECG test or an echocardiogram can help diagnose these symptoms. Many individuals may also have pulmonary stenosis, in which their pulmonary valve is narrowed reducing blood flow to the heart. Patients with this symptom will often display shortness of breath (Berman MD 2015).
Additionally, patients with Leopard Syndrome may also exhibit ocular hypertolerism. On visual observation, one may be able to witness widely spaced eyes and the face is shaped vitally different as well. What has often been discovered, in addition with ocular hypertolerism, are a few facial mutations including: a triangular shaped face, drooping of upper eyelids, and abnormal folds of skin on the inner corner of the eyes (Genetics Home reference,

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