Prader–Willi Syndrome - Signs and Symptoms - Clinical Features and Signs

Clinical Features and Signs

Holm et al. (1993) describe the following features and signs as pretest indicators of PWS, although not all will be present.

In utero
  • Reduced fetal movement
  • Frequent abnormal fetal position
  • Occasional polyhydramnios (excessive amniotic fluid)
At birth
  • Often breech or caesarean births
  • Lethargy
  • Hypotonia
  • Feeding difficulties (due to poor muscle tone affecting sucking reflex)
  • Difficulties establishing respiration
  • Hypogonadism
Infancy
  • Failure to thrive (continued feeding difficulties)
  • Delayed milestones/intellectual delay
  • Excessive sleeping
  • Strabismus ('crossed eyes')
  • Scoliosis (often not detected at birth)
  • Cryptorchidism
Childhood
  • Speech delay
  • Poor physical coordination
  • Hyperphagia (over-eating) from age 2 – 8 years. Note change from feeding difficulties in infancy
  • Excessive weight gain
  • Sleep disorders
  • Scoliosis
Adolescence
  • Delayed puberty
  • Short stature
  • Obesity
  • Extreme flexibility
Adulthood
  • Infertility (males and females)
  • Hypogonadism
  • Sparse pubic hair
  • Obesity
  • Hypotonia (low muscle tone)
  • Learning disabilities/borderline intellectual functioning (but some cases of average intelligence)
  • Prone to diabetes mellitus
  • Extreme flexibility
General physical appearance (adults)
  • Prominent nasal bridge
  • Small hands and feet with tapering of fingers
  • Soft skin, which is easily bruised
  • Excess fat, especially in the central portion of the body
  • High, narrow forehead
  • Almond-shaped eyes with thin, down-turned lids
  • Light skin and hair relative to other family members
  • Lack of complete sexual development
  • Frequent skin picking
  • Striae
  • Delayed motor development

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