CAUSES
Defects in chromosome 15 is known to be the cause of Prader-Willi Syndrome (PWS). PWS occurs because certain paternal genes inherited by the father that should be expressed are not for one of several reasons. Paternal genes on chromosome 15 may be missing or deleted, there may be an error or defect in the paternal chromosome 15 or the person may have inherited two copies of chromosome 15 from the mother and no chromosome 15 from the father. These genetic changes occur randomly.
SYMPTOMS AND EFFECTS
There are no symptoms or signs during the pregnancy. After birth, babies with PWS usually are "floppy", with poor muscle tone and have trouble sucking making it difficult to feed. They may initially have failure to thrive due to this, but later in the disorder, PWS is characterized by insatiable appetite. After age 1, other signs of PWS appear including:
Defects in chromosome 15 is known to be the cause of Prader-Willi Syndrome (PWS). PWS occurs because certain paternal genes inherited by the father that should be expressed are not for one of several reasons. Paternal genes on chromosome 15 may be missing or deleted, there may be an error or defect in the paternal chromosome 15 or the person may have inherited two copies of chromosome 15 from the mother and no chromosome 15 from the father. These genetic changes occur randomly.
SYMPTOMS AND EFFECTS
There are no symptoms or signs during the pregnancy. After birth, babies with PWS usually are "floppy", with poor muscle tone and have trouble sucking making it difficult to feed. They may initially have failure to thrive due to this, but later in the disorder, PWS is characterized by insatiable appetite. After age 1, other signs of PWS appear including:
- characteristic facial features: narrow face, almond shape eyes, small mouth with thin upper lip
- fair and light skin tone
- vision problems
- underdeveloped sex organs which leads to infertility in nearly all cases
- poor growth and physical development leading to short stature, particularly if not treated early on
- learning disabilities and speech delay
- behavioral problems with temper tantrums, violent outbursts, OCD tendencies, lying/stealing, argumentative
- scoliosis
- food cravings and compulsions with insatiable appetite leading to weight gain and obesity