Skip to Top navigation
Skip to Content
Dr. Anand Saggar

Dr. Anand Saggar - MBBS, CCST, FRCP

Medical Genetic Specialist

A | A | A
07970 886663

Prader-Willi Syndrome

Prader-Willi syndrome (PWS) is the most recognised form of inherited childhood obesity.    

Epidemiology

  • Incidence: 1 in 10 000-15 000
  • All ethnic groups
  • Male = Female

Clinical Presentation

Clinical features are variable

  • Breech presentation in utero
  • Feeding problems in infancy
  • Failure to thrive initially
  • Hyperphagia
  • Truncal obesity
  • Morbid obesity developing between ages 1-6 years

back to top^

Physical Signs

  • Almond-shaped palpebral fissures
  • Down-turned corners of the mouth
  • Small hands and feet.
  • Hypotonia
  • Microcephaly
  • Hypogonadotrophic hypogonadism (males and females)
  • Mental disability (IQ evenly distributed around 60 mark).
  • Short  stature
  • Dental malocclusion (40%)
  • Cryptorchidism (80%)
  • Labial hypoplasia
  • Micropenis
  • Strabismus (40-95%)

back to top^

Complications

  • Fertility is rare in men and un-common in women.
  • Day time sleepiness is common (50-90%)
  • Respiratory problems and sleep apnoea requiring anaesthetic precautions
  • Congestive heart failure due to morbid obesity
  • Diabetes mellitus (15%)
  • Older children and adults are often depressed

back to top^