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Other Names :  

PWS

What is Prader-willi Syndrome ?  

A rare genetic disorder in which seven genes or their subsets on chromosome are deleted or unexpressed on the paternal chromosome.

Cause(s) :  
  • Genetic mutation
Symptoms :  A range of symptoms present across all the systems in the body.

Prenatal and perinatal symptoms:
  • Reduced fetal movement
  • Excessive amniotic fluid
  • Lethargy
  • Hypotonia
  • Often breech presentation
  • Difficulties in establishing respiration
  • Feeding difficulties due to poor sucking reflex
  • Hypogonadism - Diminished functioning of the testes/ovaries due to reduced production of sex hormone
During childhood:
  • Intellectual and developmental delays
  • Excessive sleeping
  • Strabismus
  • Scoliosis (3-dimensional deviation of spinal axis)
  • Cryptorchidism (absence of one or both testes from the scrotum)
  • Hyperphagia (over-eating)
  • Excessive weight gain
  • Delayed puberty and obesity
During adulthood:
  • Infertility in males and females
  • Low muscle tone
  • Obesity
  • Striae (stretch marks)
  • Learning disabilities
  • Risk of diabetes mellitus
Physical features:
  • Prominent nasal bridge
  • Excess fat, concentrated more in the central portion of the body
  • High narrow forehead
  • Almond-shaped eyes
  • Small hands and feet
  • Light and tender skin and hair
  • Lack of complete sexual development
  • Lack of motor coordination
  • Stretch marks
Brain and neurological characteristics:
  • Intellectual disability or learning disability
  • Unusual cognitive profile with strong visual organization and perception and marked skill in completing jigsaw puzzles
  • Poor auditory information processing and sequential processing
  • Poor arithmetic and writing skills
  • Poor attention span
Behavioural characteristics:
  • Extreme and insatiable appetite
  • Compulsive behaviour, usually skin picking
  • Anxiety
  • Psychiatric symptoms like hallucinations, paranoia and depression in some patients
Endocrine:
  • Growth hormone deficiency
  • Hypogonadism (reduced sex hormone)
Diagnosis and Tests :  
  • Clinical presentation of hypotonia along with other characteristics
  • Genetic testing
  • DNA-based methylation testing
Category :  Congenital Conditions

Specialist to consult :  Genetics

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