Which clinical history findings are characteristic of Prader-Willi syndrome (PWS)?

Updated: Oct 14, 2020
  • Author: Ann Scheimann, MD, MBA; Chief Editor: Luis O Rohena, MD, MS, FAAP, FACMG  more...
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  • Infants with Prader-Willi syndrome (PWS) commonly exhibit hypotonia, poor suck (with requirement of gavage feedings), weak cry, and genital hypoplasia (eg, cryptorchidism, scrotal hypoplasia, clitoral hypoplasia). [40] Neonatal hypotonia is one of the hallmark features of this disorder and is a valuable clue to initiate diagnostic testing. [41]

  • Toddlers with Prader-Willi syndrome demonstrate late acquisition of major motor milestones (eg, sitting at age 12 mo, walking at age 24 mo).

  • Children aged 1-6 years present with symptoms of hyperphagia with progressive development of obesity.

  • Short stature is generally present during childhood; a minority of patients present later with lack of pubertal growth spurt. [42]

  • Sleep disturbances, ranging from central or obstructive sleep apnea to narcolepsy, are common. [43] Exacerbation of obstructive sleep apnea shortly after initiation of growth hormone therapy is a recent concern.

  • Most patients with Prader-Willi syndrome have growth hormone deficiency, as determined with provocative testing. [42]

  • Pubic and axillary hair may grow prematurely in children with Prader-Willi syndrome, but other features of puberty are generally delayed or incomplete. [42]

  • Testicular descent has occurred as late as in adolescence; menarche may occur as late as age 30 years in the presence of significant weight loss. [42]

  • Mild intellectual disability is common. [44]

  • Obesity complications (eg, sleep apnea, cor pulmonale, diabetes mellitus, atherosclerosis), hypogonadism (osteoporosis), and behavioral issues are common problems in adults with Prader-Willi syndrome. [45]

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