Prader-Willi syndrome

A developmental disability caused by genetic changes on chromosome 15. Between ages 1 and 4, children with this syndrome develop an increased interest in food, which may become an insatiable obsession and is often associated with compact body build, underdeveloped sexual characteristics, and poor muscle tone. Most patients have mild intellectual disability and delays in language and motor development.


Obesity caused by a chromosome deletion and characterized by persistent food-seeking behavior.


Prader-Willi Syndrome is a multisystem disorder characterized by neonatal hypotonia, onset of obesity in later childhood, hyperphagia, small hands and feet, short stature, and mental retardation. Although it arises from a genetic defect, it is not inherited and is instead a rare birth defect. It is caused by the partial deletion of the paternal Chromo-some 15 in 70% of patients or by the inheritance of two copies from one parent (usually termed maternal disomy) in the remaining patients. The exact gene that causes Prader-Willi syndrome has not been discovered.


A genetic disorder that causes incomplete sexual development, short stature, cognitive disabilities, and an insatiable appetite that leads to obesity. Characteristics of PWS may include infantile hypotonia (muscle weakness and low muscle tone) that improves with age; feeding problems and poor weight gain in infancy; rapid and excessive weight gain between ages 1 and 6; narrow face with almond-shaped eyes and a small mouth with down- turned corners; undescended testicles and small penis in males; scant or no menstrual periods in females; delayed puberty; overall developmental delay before age 6, including mild to moderate mental retardation or learning problems; and compulsive eating and preoccupation with food.


A rare inherited condition marked by genetic obesity, hyperphagia, mental retardation, inadequate growth hormone secretion, short stature, sexual infantilism, and hypotonia. The cause is an abnormal chromosome 15 of maternal origin.


An infrequent genetic disorder thought to stem from an anomaly in chromosome 15. This condition is present from birth and is of congenital origin.


The physical attributes associated with this condition comprise diminished height, hypogonadism (underdeveloped testes or ovaries), a small penis in males, tiny hands and feet, eyes with an almond shape, and the presence of a squint. Regarding mental traits, specific learning challenges are observed.


Infants impacted by this condition display hypotonia (limp muscles), encounter challenges with feeding, and exhibit excessive sleepiness; these issues tend to improve around the six-month mark. In early childhood, there might be delays in learning to walk and speak.


Children affected by this condition develop an insatiable appetite and an intense fixation on eating. Without control over their food intake, they may engage in continuous eating. This inclination can lead to obesity, which, in turn, could trigger other ailments like diabetes mellitus and heart failure. The longing for food might result in behavioral issues if a child is restricted from eating. Additionally, they could experience anxiety and exhibit harmful behaviors such as skin picking. Generally, children with Prader-Willi syndrome exhibit a good-natured demeanor in most aspects, although their challenges can result in social isolation.


The approach involves addressing the symptoms. Parents, educators, and caregivers should ensure that the child’s food consumption is kept in check.


Undevelopment of sexual organs, particularly in boys, can potentially be rectified through treatment involving sex hormones. For those with short stature, growth hormone might be administered. Learning challenges are addressed through suitable education or therapeutic interventions.


 


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