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) :
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
Specialist to consult : Genetics
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