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A 35-year-old member asked:

Is prader willi syndrome hereditary?

2 doctor answers4 doctors weighed in
Dr. Golder Wilson
Specializes in Clinical Genetics
Yes and no: Prader-willi syndrome involves early low tone with later overeating and obesity since the person is never full. It is genetic, with ~70% of cases having deletion (missing part) of chromosome 15 and the others having altered parental patterning (genomic imprinting). Although always due to a genetic change, it is rarely inherited and has a low recurrence risk for parents of an affected child.
Dr. Elizabeth Wallen
Pediatrics 35 years experience
Not typically: Prader willi is most commonly a random genetic abnormality that occurs early in development of fetus. There is usually no history of the disease in the family.

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A 41-year-old member asked:

What are the tests for prader-willi syndrome?

1 doctor answer3 doctors weighed in
Dr. Michael H. T. Sia
Pediatrics 31 years experience
See below:: High resolution chromosomal analysis; fish (stands for fluorescence in situ hybridization, often done at the same time as a chromosome analysis); and new molecular tests: dna methylation test (confirms or rules out pws as a diagnosis, with over 99% accuracy);dna polymorphism studies (done to detect upd-uniparental disomy, requires blood samples from both parents and child for best accuracy).
A 43-year-old member asked:

What are the stigmata of prader-willi syndrome?

1 doctor answer2 doctors weighed in
Dr. Barry Bergman
Pediatrics 41 years experience
Many: Prader willi one can have feeding problems as infant and be very floppy or decreasesd tone. They often have small hands and feet, almond shaped eyes and mental retardation.
A 35-year-old member asked:

What are features of prader willi syndrome ?

1 doctor answer2 doctors weighed in
Dr. Jay Park
Dr. Jay Parkanswered
Pediatrics 50 years experience
H3O: Hyperphagia (voracious appetite), hypotonia (low muscle tone), hypopigmentation (light colored), and obesity are classic pictures of prader-willi syndrome.
Dr. Johanna Fricke
Developmental and Behavioral Pediatrics 50 years experience
Infants may present with low muscle tone & " failure to thrive."'The hyperphagia & excessive wt. gain start ~ 18 mos.
Dec 8, 2012
Dr. Jay Park
Dr. Jay Park commented
Pediatrics 50 years experience
Provided original answer
Thanks Dr. Fricke, for your thoughtful comment. I had a personal experience of an infant who was noticeably hypotonic and required gavage feeding.
Dec 9, 2012
A 31-year-old member asked:

How do you diagnose prader willi syndrome?

1 doctor answer1 doctor weighed in
Dr. Touraj Shafai
Pediatrics 59 years experience
Dysmorphic features: Children with prader-willie syndrome have dysmorphic features and are hypotonic at birth. Initially have poor weight gain and later on develop obesity ' short stature, hypogonadism and developmntal delay.
A 31-year-old member asked:

What is prader-willi syndrome?

2 doctor answers6 doctors weighed in
Dr. Josephine Ruiz-healy
Pediatrics 39 years experience
Genetic anomaly: Kids with prader willi syndrome usually obtain the genetic analy from the paternal gene. It is characterized by problems with muscle tone, even noticeable during pregnancy, also due to this difficulty feeding , poor weight gain, as infants. This changes after age 2 when kids develop over eating that can lead to morbid obesity. Also found are; scoliosis, cognitive problems, delayed puberty, etc.

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Last updated Apr 12, 2015

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