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متلازمة برادر-ويلي

آخر تحديث 13 May 2022

يتوافق مع الإرشادات التحريرية

Prader-Willi syndrome is a complex genetic condition that affects many parts of the body. In infancy, this condition is characterised by weak muscle tone (hypotonia), feeding difficulties, poor growth, and delayed development. Beginning in childhood, affected individuals develop an extreme hunger, which leads to chronic overeating (hyperphagia) and obesity. Some people with Prader-Willi syndrome, particularly those with obesity, also develop type 2 diabetes (the most common form of diabetes).

الوصف

Prader-Willi syndrome is a complex genetic condition that affects many parts of the body. In infancy, this condition is characterised by weak muscle tone (hypotonia), feeding difficulties, poor growth, and delayed development. Beginning in childhood, affected individuals develop an extreme hunger, which leads to chronic overeating (hyperphagia) and obesity. Some people with Prader-Willi syndrome, particularly those with obesity, also develop type 2 diabetes (the most common form of diabetes).

People with Prader-Willi syndrome typically have mild to moderate intellectual impairment and learning disabilities. Behavioural problems are common, including temper outbursts, stubbornness, and compulsive behaviour such as picking at the skin. Sleep abnormalities can also occur. Additional features of this condition include distinctive facial features such as a narrow forehead, almond-shaped eyes, and a triangular mouth; short stature; and small hands and feet. Some people with Prader-Willi syndrome have unusually fair skin and light-colored hair. Both affected males and affected females have underdeveloped genitals. Puberty is delayed or incomplete, and most affected individuals are unable to have children (infertile).

Inheritance patterns

The source lists the following possible inheritance patterns: Not inherited. More than one pattern can apply in different cases.

Related genes

Other names

Prader-Labhart-Willi syndrome

PWS

Willi-Prader syndrome

Related clinical trials

Related patient information and medicines

نمو محدود

Patient information leaflet

نمو محدود

This is a genetic condition affecting girls only. As well as short height, there are typical physical features, and ovaries do not work normally. See the separate leaflet called Turner syndrome for more information. Prader-Willi syndrome. This is a rare genetic condition with many features including learning disability, obesity, muscle.

متلازمة داون

Patient information leaflet

متلازمة داون

متلازمة داون (also known as Down syndrome) is a genetic chromosome problem. Someone with Down's syndrome has an extra copy of chromosome 21 in the cells of their body. All people with Down's syndrome have some degree of learning disability. Down's syndrome may be detected before birth (prenatally) or after birth (postnatally). It cannot be.

متلازمة تململ الساقين

Patient information leaflet

متلازمة تململ الساقين

متلازمة تململ الساقين syndrome causes uncomfortable feelings in your legs. As a result, you have an urge to move your legs which gives temporary relief. Symptoms come on... Medication can ease symptoms if the condition is distressing. What is restless legs syndrome. Restless legs syndrome (RLS) is sometimes called Willis-Ekbom disease after the doctors.

الضلع العنقي

Patient information leaflet

الضلع العنقي

About 1 in 100 people يكون born with an extra rib called a cervical rib. About 1 in 10 people who have a cervical rib develop thoracic outlet syndrome. This happens if the cervical rib squashes the nerves and blood vessels going into the arm. Treatment can include painkillers, physiotherapy and sometimes surgery to relieve the compression caused.

متلازمة مضادات الاختلاج الجنينية

Patient information leaflet

متلازمة مضادات الاختلاج الجنينية

متلازمة مضادات الاختلاج الجنينية (FACS) - also known as fetal valproate syndrome and fetal hydantoin syndrome - is a group of malformations that can affect some babies if they are exposed to certain medicines known as antiepileptic drugs (AEDs) while in the womb. Most women with epilepsy will have a healthy child. Women with epilepsy who are pregnant.

متلازمة جيلبرت

Patient information leaflet

متلازمة جيلبرت

Gilbert's syndrome is due to an inherited defect in processing bilirubin in the liver. Bilirubin is produced from the breakdown of red blood cells. When it cannot be cleared properly in the liver, its levels build up in the blood. What is Gilbert's syndrome. Gilbert's syndrome - also known as constitutional hepatic dysfunction - is a condition.

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  • 13 May 2022 | أحدث إصدار
  • 1 مايو 2022 | نُشر في الأصل

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