| DescriptionPrader-Willi syndrome is a complex genetic condition that affects many parts of the body. In infancy, this condition is characterized 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). Show People with Prader-Willi syndrome typically have mild to moderate intellectual impairment and learning disabilities. Behavioral problems are common, including temper outbursts, stubbornness, and compulsive behavior 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  FrequencyPrader-Willi syndrome affects an estimated 1 in 10,000 to 30,000 people worldwide. CausesPrader-Willi syndrome is caused by the loss of function of genes in a particular region of chromosome 15 Most cases of Prader-Willi syndrome (about 70 percent) occur when a segment of the paternal chromosome 15 is deleted It appears likely that the characteristic features of Prader-Willi syndrome result from the loss of function of several genes on chromosome 15. Among these are genes that provide instructions for making molecules called small nucleolar RNAs (snoRNAs). These molecules have a variety of functions, including helping to regulate other types of RNA molecules. (RNA molecules play essential roles in producing proteins and in other cell activities.) Studies suggest that the loss of a particular group of snoRNA genes, known as the SNORD116 cluster, may play a major role in causing the signs and symptoms of Prader-Willi syndrome. However, it is unknown how a missing SNORD116 cluster could contribute to intellectual disability, behavioral problems, and the physical features of the disorder. In some people with Prader-Willi syndrome, the loss of a gene called OCA2 is associated with unusually fair skin and light-colored hair Researchers are studying other genes on chromosome 15 that may also be related to the major signs and symptoms of this condition. InheritanceMost cases of Prader-Willi syndrome are not inherited, particularly those caused by a deletion Rarely, a genetic change responsible for Prader-Willi syndrome can be inherited. For example, it is possible for a genetic change that abnormally turns off genes on the paternal chromosome 15 to be passed from one generation to the next. Other Names for This Condition
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Apa penyebab penyakit Prader Willi Syndrome?Sindrom Prader-Willi atau Prader-Willi Syndrome, merupakan salah satu penyakit genetik yang disebabkan oleh gangguan pada kromosom 15. Penyakit ini menyebabkan kelainan pada banyak sistem pada tubuh pengidapnya.
Gejala apa saja yang ada dalam sindrom Prader Willi?Berbagai gejala Prader willi syndrome pada anak-anak hingga usianya dewasa adalah sebagai berikut:. Rasa lapar terus menerus dan bertambahnya berat badan. ... . Perkembangan organ seks kurang baik. ... . Perkembangan kognitif terhambat. ... . 6. Masalah bicara. ... . 7. Masalah perilaku.. Apakah penyakit PWS bisa sembuh?Sindrom Prader-Willi tak dapat disembuhkan. Pengobatannya bertujuan untuk mengatasi gejala yang terjadi dan membantu anak agar dapat beraktivitas sehari-hari dengan optimal. Hal yang perlu mendapat perhatian khusus adalah penanganan makan berlebihan yang umumnya terjadi saat anak berusia 1–6 tahun.
Anak Oki Setiana Dewi syndrome apa?Seperti diketahui, Oki Setiana Dewi kini sudah berkeluarga dan memiliki keturunan bersama dengan suaminya. Rupanya sang anak, Sulaiman Abdullah divonis mengidap sindrom yang langka ada di tubuh manusia. Yaitu Prader Willi Syndrome (PWS) yang merupakan kelainan genetik dikarenakan ada fungsi gen tertentu yang hilang.
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Apa itu prader willi syndrome
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