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Sleep Apnea - MedlinePlus Genetics

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Last Updated: 12 January 2023

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Obstructive sleep apnea

Obstructive sleep apnea is a disorder in which people experience pauses in breathing 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 apnea report a higher risk of motor vehicle accidents in those with a high risk of daytime sleepiness.

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


Xia-Gibbs syndrome

Expressive language skills are particularly important; children with this disorder typically do not speak their first word before age two or later, and some never learn to talk; children with autism are particularly vulnerable; children with this disorder typically do not speak their first word until age two or later; and some children with this condition do not speak their first word until age two or later; children with this condition typically do not talk until age two or older. Xia-Gibbs syndrome's other signs and symptoms may vary among affected individuals. People with the condition and sleep abnormalities may also have feeding difficulties and insomnia, and many affected individuals have short pauses in breathing when sleeping. Imaging tests of the brain reveal abnormalities in the brain's anatomy in those people with Xia-Gibbs syndrome. Physical growth can also be affected by Xia-Gibbs syndrome. Xia-Gibbs syndrome sufferers have unusual facial features, such as a broad forehead, low-set ears, or ears sticking out, slanting up or down, a thin upper lip, or a thin upper lip. Behavior disorders can also occur in Xia-Gibbs syndrome.

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


Polycystic ovary syndrome

Most women with polycystic ovary syndrome have excess male sex hormones, a condition called hyperangioenism. On medical imaging, small, immature ovarian follicles, which can appear as cysts, may cause polycystic ovary syndrome. In polycystic ovary syndrome, abnormal hormone levels block follicles from growing and maturing to release egg cells. 12 or more of these follicles are common among affected women. About half of all women with polycystic ovary syndrome are overweight or obese, and are at an elevated risk of a fatty liver. Insulin is also elevated in women with polycystic ovary syndrome, which is a hormone that helps regulate blood sugar levels. About 10% of obese women with polycystic ovary syndrome have abnormally high blood sugar levels by age 40, and up to 35 percent have prediabetes. Increased insulin production in polycystic ovary syndrome is attributed to increased insulin levels and increased insulin levels. Women with polycystic ovary syndrome, elevated blood pressure, increased belly fat, elevated cholesterol levels, and elevated blood sugar levels are all at an elevated risk of metabolic syndrome, which is a group of disorders that involve elevated blood pressure, elevated blood pressure, elevated blood pressure, elevated levels of unhealthy fats, and elevated blood sugar levels. Women with polycystic ovary syndrome are more likely than women in general popluation to have mood disorders such as depression than those in the general population.

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


Potocki-Lupski syndrome

Potocki-Lupski syndrome is a disorder that results from 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, leading to feeding difficulties. A heart defect in some cases is life-threatening, accounts for nearly 40% of babies with Potocki-Lupski syndrome. 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 habits, and fear. Many people with this disorder have symptoms of autism spectrum disorder, which affects social interaction and communication. Eye and hearing impairments, dental and skeletal abnormalities, and abnormal kidney growth and function can all be associated with Potocki-Lupski syndrome.

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 several organs of the body and occurs almost exclusively in males. People with MPS II do not have any of the symptoms at birth and do not have any of the condition's characteristics. People with MPS II tend to have thick skin that is not elastic. Some of the affected individuals have white skin growths that look like pebbles. Some people with MPS II have trouble with the light-sensitive tissue in the back of the eye and have reduced vision. The spinal cord can be compressed and fractured by narrowing the spinal canal in the neck. Many people have heart valve problems, and MPS II has also impacted the heart. Heart valve abnormalities can cause the heart to become enlarged and can eventually lead to heart disease. Children with MPS II grow steadily until about age 5, but then their growth slows and they have short stature. Multiple skeletal abnormalities seen on x-ray can be present in a number of people with MPS II. Although both types of MPS II are related to numerous organs and tissues as listed above, people with severe MPS II also experience a decline in intellectual function and a more rapid disease progression. Individuals with mild MPS II have a shorter life expectance, but adults with mild MPS II have a shorter lifespan, but they do not live until 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

Infancy, the first signs and symptoms of YUHAL syndrome appear. Infants with YUHAL syndrome have poor muscle tone, often leading to feeding difficulties. Infants and children with YUHAL syndrome have delayed growth, including delayed speech and language skills, and motor skills such as walking. Some people with YUHAL syndrome have subtle differences in facial appearance, including inside corners of the eyes that point downward, a triangular face, and eyes that don't look in the same direction. Other signs and symptoms of YUHAL syndrome range from injury to peripheral nerves, nerve cord, muscles, and sensory nerves that detect sensations such as touch, pain, and heat. Children with YUHAL syndrome often experience muscle weakness, particularly in the lower legs, which can lead to unusual walking style.

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


Mucopolysaccharidosis type VII

The most common MPS VII cases are caused by hydrops fetalis, a condition in which excess fluid builds up in the body before birth. The majority of babies with hydrops fetalis are stillborn or die soon after birth. Members of MPS VII start showing signs and symptoms of the disease in early childhood. MPS VII may become narrower in some people with MPS VII, resulting in frequent upper respiratory infections and short pauses in breathing during sleep. People with MPS VII may also suffer from recurrent ear infections and hearing loss. People with MPS VII may experience a narrowing of the spinal canal in the neck, which may compress and damage the spinal cord. MPS VII sufferers' life expectancy is highly dependent on the severity of the disorder. People with MPS VII are at risk of death from heart disease and airway obstruction.

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 several organ systems. Children with Schinzel-Giedion syndrome may have a variety of unique characteristics. In the majority of affected individuals, the middle of the facial profile appears to have been drawn inward. Babies with Schinzel-Giedion syndrome have excessive hairiness that never disappears in infancy. Children with Schinzel-Giedion syndrome have a severe developmental delay. They may also experience short pauses in breathing during sleep. Affected individuals may also have abnormalities of organs such as the heart, kidneys, or genitals. Heart valves, which regulate blood flow in the heart; the chambers of the heart that pump blood to the body; or the dividing wall between the two sides of the heart can be found. The majority of children with Schinzel-Giedion syndrome have urine in the kidneys, which can occur in one or both kidneys. People affected by the genital abnormalities may have underdevelopment of the genitals. The urethra may have the opening of the urethra on the underside of the penis. People with Schinzel-Giedion syndrome have bone abnormalities that are typical. The bones at the base of the skull are 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 past infancy are at a greater risk of experiencing certain types of brain tumors, called neuroepithelial tumors.

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