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Sleep Apnea - MedlinePlus Genetics

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Last Updated: 12 September 2022

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Obstructive sleep apnea

Obstructive sleep apnea is a condition in which people experience breath pauses in sleep during sleep that are associated with partial or complete closure of the throat. Individuals with obstructive sleep apnea may experience disturbed sleep with frequent awakenings and snoring. People with obstructive sleep disorder have a higher risk of motor vehicle accidents in those with daytime sleepiness.

Source link: https://medlineplus.gov/genetics/condition/obstructive-sleep-apnea


Xia-Gibbs syndrome

Expressive language skills are particularly difficult; children with this disorder do not speak their first word until age two or later, and some never learn to talk. Xia-Gibbs syndrome's other signs and symptoms may vary among affected individuals. Feeding difficulties and sleep abnormalities can also develop in people with the condition, and several affected individuals experience short pauses in breathing when they sleep. Imaging studies of the brain reveal abnormalities in the brain's body in those people with Xia-Gibbs syndrome. Physical growth can also be affected by Xia-Gibbs syndrome. Some people with Xia-Gibbs syndrome have unusual facial features, such as a wide forehead, low-set ears, or ears that stick out, wide space eyes, slanting up or down, a thin upper lip, or a thin upper lip. Behavior disorders in Xia-Gibbs syndrome can also arise.

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


Polycystic ovary syndrome

Most women with polycystic ovary syndrome have elevated male sex hormone levels, a condition called hyperandrogenism. There are an elevated risk of complications and pregnancy loss among those who are pregnant. On medical imaging, one or both ovaries can have multiple small, immature ovarian follicles, which may appear as cysts in polycystic ovary syndrome. In polycystic ovary syndrome, abnormal hormone levels hinder follicles from growing and maturing to release egg cells. About half of all women with polycystic ovary syndrome are overweight or obese, and they are at a higher risk of a fatty liver. In addition, many women with polycystic ovary syndrome have elevated levels of insulin, which is a hormone that helps regulate blood sugar levels. About 10% of overweight women with polycystic ovary syndrome have abnormally high blood sugar levels by age 40, with up to 35 percent suffering prediabetes. The production of androgens in polycystic ovary syndrome, according to increased insulin levels, can contribute to increased insulin synthesis and elevated insulin levels. Women with polycystic ovary syndrome, elevated blood pressure, elevated belly fats, elevated blood sugar levels, and elevated blood sugar levels are all at risk for developing metabolic syndrome, which is a group of conditions that also includes elevated blood pressure, elevated blood pressure, elevated blood sugar levels, and elevated blood sugar levels are all in danger. Around 20% of all affected adults suffer from breathing difficulties during sleep. Women with polycystic ovary syndrome are more likely than women in general popluation to suffer mood disorders such as depression than women in the general population.

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


Potocki-Lupski syndrome

Potocki-Lupski syndrome is a condition that results from the discovery of an extra copy of a small piece of chromosome 17 in each cell. Infants with Potocki-Lupski syndrome may have poor muscle tone and swallowing difficulties that can lead to feeding difficulties. In some cases, a heart defect accounts for 40% of babies with Potocki-Lupski syndrome, which in some cases is life-threatening. Infants and children with Potocki-Lupski syndrome have delayed growth, including delayed speech and language skills as well as gross motor skills such as sitting, standing, and walking. Potocki-Lupski syndrome is also linked to behavioral disorders, hyperactivity, compulsive or impulsive behaviours, and anxiety. Other signs and symptoms of Potocki-Lupski syndrome include vision and hearing impairments, dental and skeletal abnormalities, and abnormal kidney growth and function.

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


Mucopolysaccharidosis type II

Mucopolysaccharidosis type II, also known as Hunter syndrome, is a disorder that affects many areas of the body and occurs almost exclusively in males. People with MPS II do not have any characteristics of the condition at birth. People with MPS II have thick skin that is not elastic. Some affected people have also noticed pebble-like white skin growths. Some people with MPS II have trouble with the light-sensitive tissue in the back of the eye's eye and have reduced vision. The spinal cord can be compressed and torment the spinal cord if the neck is narrowed. Many individuals with heart valve problems are also affected by MPS II, and the heart is also affected by MPS II; also, many people with heart valve problems. Heart valve abnormalities can cause the heart to swell and eventually lead to heart failure. Children with MPS II remain stable until about age 5, but then their growth slows and they attain short stature. Multiple skeletal abnormalities seen on x-ray are present in most people with MPS II, as well as multiple skeletal anomalies seen on x-ray. Although both types of kidneys and tissues are affected by various organs and tissues as described above, people with significant MPS II experience both a decline in intellectual function and more rapid disease progression. Individuals with mild MPS II also have a shorter lifespan, but they do not live into adulthood, and their intelligence is unaffected. People with both types of MPS II are at risk of death from heart disease and airway obstruction.

Source link: https://medlineplus.gov/genetics/condition/mucopolysaccharidosis-type-ii


Yuan-Harel-Lupski syndrome

Yuan-Harel-Lupski syndrome, Potocki-Lupski syndrome, and type 1A Charcot-Marie-Tooth disease are two specific medical disorders. Infancy, the first signs and symptoms of YUHAL syndrome appear in infants. Infants with YUHAL syndrome have poor muscle tone, which may lead to feeding difficulties. Infants and children with YUHAL syndrome have delayed growth, including delayed speech and language skills, as well as motor skills such as walking. YUHAL syndrome has also been linked to behavioral difficulties. Some people with YUHAL syndrome have subtle facial features such as outside edges of the eyes that point downward, a triangular face, and eyes that do not align in the same direction. Children with YUHAL syndrome often experience muscle pain, particularly in the lower legs, which may lead to unusual walking style.

Source link: https://medlineplus.gov/genetics/condition/yuan-harel-lupski-syndrome


Mucopolysaccharidosis type VII

Most infants with hydrops fetalis are either born or die soon after birth. People with MPS VII begin to exhibit signs and symptoms of the disorder in early childhood. In some people with MPS VII, the airway may become narrow, resulting in frequent upper respiratory infections and short pauses in breathing during sleep. People with MPS VII may also have persistent ear infections and hearing loss. Some people with autism may have developmental delay and progressive intellectual impairment, but intelligence is unaffected in those with this condition. In several children with MPS VII, Carpal tunnel syndrome develops, with numbness, tingling, and a lack of hand and fingers. People with MPS VII may experience a narrowing of the spinal canal in the neck, which can decompress and damage the spinal cord. Individuals with MPS VII's life expectancy is determined by their illness and location.

Source link: https://medlineplus.gov/genetics/condition/mucopolysaccharidosis-type-vii


Schinzel-Giedion syndrome

Schinzel-Giedion syndrome is a common medical disorder that is present at birth and affects numerous organ systems. Children with Schinzel-Giedion syndrome can have a variety of physical characteristics. Babies with Schinzel-Giedion syndrome have excessive hair growth that seldom disappears in infancy. Children with Schinzel-Giedion syndrome have a significant developmental delay. Symptoms of severe digestive disturbances, seizures, or visual or hearing impairment could be among other conditions. They may also experience short pauses in breathing during sleep. People affected by the heart, kidneys, or genital abnormalities can also have organ abnormalities. Heart valves, which regulate blood flow in the heart; the chambers of the heart that pump blood to the body; or the boundary wall between the two sides of the heart are some of the heart defects. The majority of children with Schinzel-Giedion syndrome have urine in the kidneys, which can occur in one or both kidneys. People affected by genital anomalies, such as underdevelopment of the genitals, may have genital abnormalities. On the underside of the penis, affected boys may have the first of the urethra. People with Schinzel-Giedion syndrome have bone abnormalities that are common. The bone at the base of the skull is often abnormally hard or thick, or the joint between the bones at the base of the skull can be abnormally wide. Children with Schinzel-Giedion syndrome who live beyond infancy have a higher risk of developing neuroepithelial tumors in brain children.

Source link: https://medlineplus.gov/genetics/condition/schinzel-giedion-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