Doctor insights on:
What Are Symptoms Of Prader Willi Syndrome
At birth : Children born with pws often have difficulties with tone from birth and therefore difficulty feeding. Boys may have undescended testes. Symptoms like insatiable appetite generally don't become apparent until the child is about 2-3 years-old. Pws patients are usually short and also have developmental delays. ...Read more
Newborn period: (or sooner - some babies can have abnormal findings detected on prenatal ultrasounds.) however, classically, the diagnosis is made in the newborn period due to low muscle tone, poor feeding and poor weight gain. The overeating characteristic of prader-willi begins in the toddler or preschool years. ...Read more
During when do the first symptoms of prader-willi syndrome show up. And how does the condition progress?
Newborns with P-W: May be small for gestational age ; have difficulty feeding because of low muscle tone, moreso in neck muscles. Infants may present with " failure to thrive", short length, low muscle tone, almond-shaped eyes ; small hands ; feet. Males may have a small penis ; "hidden" tested. Hyperphagia (abnormally increased appetite) usually begins between 18 mos.-5 yrs. See http://www.Pwsausa.Org/syndrome/. ...Read more
Sometimes: Prader-willi syndrome can be caused by a deletion in chromosome 15 that is visible on routine cytogenetic analysis. Other patents have a submicroscopic deletion that is only visible by fish analysis or cgh microarray. Still others have the syndrome because of uniparental disomy detectable by a methylation study. ...Read moreSee 1 more doctor answer
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 moreSee 1 more doctor answer
Needs a specialist: The syndrome occurs when genes on chromosome 15 are deleted or fail to express in 1 per 25,000 births. It can be recognized and helped by a genetics or endocrinology specialist and services to assist with problems such as excessive appetite, obesity, muscle weakness and developmental delay. Also see www.//pwsusa.org for support from the Prader Willi Association. ...Read moreSee 1 more doctor answer
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. ...Read more
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
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