Marfan syndrome is not the only genetic disorder that affects connective tissue and has conditions including Thoracic Aortic Aneurysm. Marfan syndrome is a genetic disorder that messes with the connective tissue throughout the body (Marfan Foundation) and was discovered by Antoine Marfan in France back in 1896 (KidsHealth). Features of this genetic disorder are mostly found in the heart, blood vessels, bones, joints, and eyes. (Marfan Foundation) But it affects each person differently. Marfan can be life threatening, as it affects the lungs, skin, and nervous system. Marfan is a change, or a mutation, in the gene that makes Fibrillin. Fibrillin is a protein that plays a huge roll in your connective tissue(NIH). You can only inherit Marfan(NIH), …show more content…
The causes of aneurysms are sometimes unknown. Some may be congenital, meaning a person is born with them. An aneurysm may also occur as the result of aortic disease or an injury. (AHA) There are three types, Abdominal Aortic Aneurysm, Thoracic Aortic Aneurysm, and the last but not least, Cerebral Aneurysm. The aneurysm that Loeys and Marfan contains is Thoracic Aortic Aneurysm. Thoracic Aortic Aneurysm is an abnormal bulging or ballooning of the portion of the aorta the passes through the chest. The most common cause is atherosclerosis, or hardening of the arteries(AHA) Risk factors may include, aging, genetic conditions such as Marfan and Loeys-Dietz Syndrome, Inflammation of the aorta, injury from falls or other trauma, and or, Syphilis. A patient with Thoracic Aortic Aneurysm may not have or experience any symptoms until it begins to leak blood into the nearby tissue or expand. There are many symptoms such as hoarseness, swallowing problems, swelling in neck, chest or upper back pains, and many more to include. (AHA) Marfan syndrome and Loeys-Dietz syndrome are very alike in the way that they both have the condition, Thoracic Aortic Aneurysm and many other comparisons. (Marfan Foundation) Some of the symptoms they share is stretch marks, variable skeletal findings, and Dural Ectasia. Both Marfan and Loeys-Dietz syndrome are found throughout the body, making both of these genetic disorders impossible to cure. (Marfan
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Familial dysautonomia (FD), also called Riley Day Syndrome and hereditary and sensory autonomic neuropathy type 3 (HSAN3), is an inherited disorder that affects the development and survival of some sensory and autonomic neurons.4,5 It is almost exclusively present in Ashkenazi Jews. About 1 out of 32 Ashkenazi Jews are carriers. The disease frequency is 1 out of 3700 for Ashkenazi Jews.5 Familial dysautonomia is exceedingly rare in the non Ashkenazi Jewish population.
Behavioral problems are common and may include hyperactivity, aggressiveness, and restlessness. Coarse facial features, Diarrhea, Full lips, heavy eyebrows that meet in the middle of the face above the nose. Other symptoms may include incontinence, speech and hearing impairment. 4. Biochemical symptom of Sanfilippo syndrome
No matter how big or small the abnormality is, they can cause numerous amounts of genetic diseases which can change a persons life forever. Genetic diseases are passed down from a carrier parent to their offspring. Depending on what type of genetic disease it is, depends on how many parents it takes to pass the disease on to their offspring. In some cases it 's one parent and in other cases its both parents. Some
LESCH NYHAN SYNDROME A report by Precious Yashim Diane 148181 Student of molecular biology and genetics department, Faculty of arts and science, Eastern Mediterranean University Introduction Lesch-Nyhan syndrome also known as HPRT (Hypoxanthine Phosphoribosyltransferase 1) deficiency or Kelley Seegmiller Syndrome is a rare hereditary disease which affects young boys, usually causing early death. It is marked by compulsive self-mutilation of the head and hands, together with learning difficulties and involuntary muscular movements. Lesch Nyhan syndrome corresponds with virtually complete HPRT deficiency and was described by Michael Lesch and William Nyhan in 1964. (1)
Although the primary aspect of Poland Anomaly is the underdevelopment or lack of a pectoral muscle, there are many other effects of the disorder. Symptoms of this disorder include the underdevelopment or lack of a pectoral muscle and nipple, webbed fingers with a shorter than average length, lack of armpit hair, skin in affected areas being hypoplastic, underdevelopment or lack of the upper rib cage, occasionally affecting the shoulder blade, and in extremely rare cases, spine or kidney problems may arise (National Human Genome Research Institute). Poland Anomaly observed within families reveals that it can be passed down from parent to offspring, whether the disorder
• Scoliosis • Ataxia. Dejerine syndrome is a genetic recessive disorder that may be passed down to an offspring thus there are no contributing factors to causing Dejerine Syndrome. One may show signs as early as the age of ten all the way to the age
As an aneurysm increases in size, the risk of rupture increases leading to uncontrolled bleeding. Although they may occur in any blood vessel particularly lethal examples include aneurysms of the Circle of Willis in the brain, aortic aneurysms affecting the thoracic aorta and abdominal aortic aneurysms. Classification: Aneurysms
Lesch-Nyhan Syndrome or LNS exclusively only affects males. The mothers can pass the disease through the X chromosome; therefore, it is denoted as an x-linked recessive disease. This disease can affect approximately 1 in 380,000 births. Lesch-Nyhan Syndrome is an inborn fault of purine metabolism. There are an abundance of symptoms associated with this genetically rare disease.
We report a series of cases of Berardinelli-Seip syndrome (congenital generalized lipodystrophy). This is a rare autosomal recessive disease. In our region, we have a higher prevalence than that reported in the literature. This is probably due to frequent marriages that occur between relatives.
An echocardiography done showed normal anatomy and function of the heart. Subsequently he was discharged on antiplatelet dose of aspirin and advised follow up. Echocardiography repeated two weeks after discharge showed right main coronary artery aneurysm of 5 mm in size.
Fanconi anemia (FA) which was first described the Swiss pediatrician Guido Fanconi; is most often inherited in an autosomal recessive pattern, and very rarely this condition is inherited in an X-linked recessive pattern .FA leads to bone marrow failure (aplastic anemia), leukemia and/or solid tumors of the head, neck and brain region. Fanconi anemia individuals have short stature and some have developmental defects, including thumb and arm anomalies, Skeletal anomalies of the hips, spine or ribs, kidney problems, skin discoloration (café-au-lait spots), small head or eyes, intellectual developmental delay or learning disabilities, low birth weight, and small reproductive organs in males . Brain tumors might lead to communication disorders;