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Cardiovascular - MedlinePlus Genetics

Summarized by Plex Scholar
Last Updated: 22 January 2023

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Myhre syndrome

Myhre syndrome is a rare disorder that affects connective tissue in a rare manner. Typical facial features in people with Myhre syndrome include narrow openings of the eyelids, deeply set eyes, a reduced distance between the nose and upper lip, a narrow upper lip, underdeveloped upper lip, and a protruding lower jaw. People with Myhre syndrome have behavioral disorders similar to those with autism spectrum disorder, which affects communication and social interaction. Most people with Myhre syndrome have hearing loss, usually beginning in childhood and then progressing to worsening. Hearing difficulties can lead to learning and behavioral difficulties if not detected quickly. In the absence of injury or disability following surgery or injury, Fibrosis in Myhre syndrome can occur. Individuals with Myhre syndrome have problems with the heart's tissue that are present at birth. High blood pressure and narrowing of the heart valves or blood vessels may lead to the onset of additional issues, such as elevated blood pressure and narrowing of the heart valves or blood vessels. People with Myhre syndrome have narrowed the windpipe and the lungs' passages leading from the windpipe and the lungs; difficulties with filling the lungs with air when inhaling; or extensive lung damage. People with Myhre syndrome may also be at an elevated risk of experiencing cancerous or noncancerous tumors, such as cancer of the uterus lining, may be heightened.

Source link: https://medlineplus.gov/genetics/condition/myhre-syndrome


Tangier disease

Tangier disease is an inherited disorder that is characterized by significantly reduced amounts of high-density lipoprotein in the blood. High HDL levels are often referred to as "good cholesterol"" because they reduce the risks of experiencing heart and blood vessel disease. Since people with Tangier disease have low HDL, they have a marginally elevated risk of cardiovascular disease. A marginally elevated amount of fat in the blood; nerve disorders; and expanded, orange-colored tonsils are among Tangier disease's signs and symptoms.

Source link: https://medlineplus.gov/genetics/condition/tangier-disease


Familial HDL deficiency

Low serum levels of high-density lipoprotei% in the blood are characteristic of Familial HDL deficiency. People with familial HDL deficiency may have cardiovascular disease at a young age, most commonly before age 50. HDL in the blood is a typical sign of a disorder linked to Tangier disease. People with Tangier disease also have specific signs and symptoms, such as nerve injury; enlarged, orange-colored tonsils; and clouding of the eye's clear covering. However, people with familial HDL deficiency do not have these additional functions.

Source link: https://medlineplus.gov/genetics/condition/familial-hdl-deficiency


Williams syndrome

Williams syndrome is a developmental disorder that affects multiple areas of the body. People with Williams syndrome often have trouble with visual-spatial tasks such as drawing and assembling puzzles, but they do well on tasks that involve spoken language, music, and repetition. Young children with Williams syndrome have distinct facial features, such as a broad forehead, puffiness around the eyes, a flat bridge of the nose, full cheeks, and a small chin. Teeth that are small, widely spaced, crooked, or missing are among many common problems that affect those people. People with Williams syndrome are often affected by supravalvular aortic stenosis. A narrowing of the large blood vessel that transports blood from the heart to the rest of the body is a Supravalvular aortic stenosis. The artery from the heart to the lungs and the arteries that supply blood to the heart can all be narrowed. People with Williams syndrome have also identified heart and blood vessels with elevated blood pressure and stringent blood vessels. Individuals with Williams syndrome are at a higher risk of complications with anesthesia use. Those of Williams syndrome's associated nerve tissue abnormalities include joint pains and soft, loose skin, among other signs and symptoms. Depending on infancy, developmental delays, coordination issues, and short stature, impacted people may also have elevated calcium levels in the blood, as well as short stature.

Source link: https://medlineplus.gov/genetics/condition/williams-syndrome

* Please keep in mind that all text is summarized by machine, we do not bear any responsibility, and you should always check original source before taking any actions

* Please keep in mind that all text is summarized by machine, we do not bear any responsibility, and you should always check original source before taking any actions