Prader-Willi syndrome (PWS) is the most common known genetic cause of life-threatening obesity in children. Although the cause is complex, it results from an abnormality on the 15th chromosome. In infancy, this condition is characterized by weak muscle tone (hypotonia), feeding difficulties, poor growth, short stature and delayed development. Beginning in childhood, affected individuals develop an insatiable appetite, which leads to chronic overeating (hyperphagia) and obesity. Some people with Prader-Willi syndrome, particularly those with obesity, also develop type 2 diabetes mellitus (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-coloured hair. Both affected males and affected females have underdeveloped genitals. Puberty is delayed or sometimes incomplete
Most cases of Prader-Willi syndrome are not inherited, particularly those caused by a deletion in the paternal chromosome 15 or by maternal uniparental disomy. These genetic changes occur as random events during the formation of reproductive cells (eggs and sperm) or in early embryonic development.
You may find the following resources about Prader-Willi syndrome helpful.
http://www.pwsausa.org/
http://www.fpwr.org/
http://www.medicinenet.com/script/main/hp.asp
http://www.ipwso.org/
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-coloured hair. Both affected males and affected females have underdeveloped genitals. Puberty is delayed or sometimes incomplete
Most cases of Prader-Willi syndrome are not inherited, particularly those caused by a deletion in the paternal chromosome 15 or by maternal uniparental disomy. These genetic changes occur as random events during the formation of reproductive cells (eggs and sperm) or in early embryonic development.
You may find the following resources about Prader-Willi syndrome helpful.
http://www.pwsausa.org/
http://www.fpwr.org/
http://www.medicinenet.com/script/main/hp.asp
http://www.ipwso.org/