What is prader-willi syndrome?

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.

Related Questions

What is prader willi syndrome?

A genetic disorder. Usually from a deletion of a gene on the chromosome 15 inherited from the father, it can also come from having both chr 15's from the mother or both acting as if they came from mother. Infants have low muscle tone & trouble gaining weight; food craving & weight gain start about 18 mos. They have congenital anomalies, intellectual disability, compulsive behavior, & medical problems due to obesity. Read more...

Need a simple explaination for this. What is prader-willi syndrome?

PRADER WILLI SYNDROM. A genetic disease with a deletion at the long arm of chromosome#15. Signs: lack of muscle tone at birth (hypotonia), obesity, short stature, small hands and feet, hypogonadism, small testicles, mental retardation. Read more...
70% of cases of P-W. Occur when the paternal chromosome 15 genes q11-q13 are missing. In 25%, the entire paternal chromosome 15 is missing ; both come from mother. Rarely, in <5%, father's genes are present but their activity has been turned off by faulty "imprinting", which can be either accidental ; not hereditary or from the genes he inherited from his mother, with a 50% chance of p-w for each child he has. Read more...

Hi doctors, can you tell me what is prader-willi syndrome?

A genetic disorder. Usually from a deletion of a gene on the chromosome 15 inherited from the father, it can also come from having both chr 15's from the mother or both acting as if they came from mother. Infants have low muscle tone ; trouble gaining weight; food craving ; weight gain start about 18 mos. They have congenital anomalies, intellectual disability, compulsive behavior, ; medical problems due to obesity. Read more...

What are the tests for prader-willi syndrome?

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). Read more...

What are the symptoms of prader willi syndrome?

Thanks for asking! Poor muscle tone, lack of eye coordination, poor sucking, weak cry during infancy. Behavioral problems, developmental delay, obesity in childhood. . Read more...

What are the stigmata of prader-willi syndrome?

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. Read more...

Is prader willi syndrome hereditary?

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. Read more...
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. . Read more...

How do you diagnose prader willi syndrome?

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. Read more...