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

Updated: Oct 10, 2018
  • Author: Ann Scheimann, MD, MBA; Chief Editor: Luis O Rohena, MD, FAAP, FACMG  more...
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Answer

Holm et al established the following diagnostic criteria for Prader-Willi syndrome. [47] Based on these guidelines, the diagnosis of Prader-Willi syndrome is highly likely in children younger than 3 years with 5 points (3 from major criteria) or in those older than 3 years with 8 points (4 from major criteria).

  • Major criteria (1 point each)

    • CNS - Infantile central hypotonia

    • GI - Infantile feeding problems and/or failure to thrive

    • Nutrition - Rapid weight gain in children aged 1-6 years

    • Craniofacial - Characteristic facial features such as narrow bifrontal diameter, almond-shaped palpebral fissures, narrow nasal bridge, and down-turned mouth

    • Endocrine - Hypogonadism

    • Developmental - Developmental delay and/or mental retardation

  • Minor criteria (one half point each)

    • Neurologic - Decreased fetal movement and/or infantile lethargy

    • Pulmonary - Sleep disturbance and/or sleep apnea

    • Endocrine - Short stature for predicted height by mid adolescence

    • Dermatologic - Hypopigmentation

    • Orthopedic - Small hands and feet

    • Orthopedic - Narrow hands with straight ulnar border

    • Ophthalmologic – Esotropia and/or myopia

    • Dental - Thick viscous saliva

    • Otolaryngology - Speech articulation defects

    • Psychiatric - Skin picking (Some patients with Prader-Willi syndrome have become anemic from chronic rectal bleeding secondary to skin picking.)

  • Supportive criteria (no points)

    • Neurology - High pain threshold and normal neuromuscular evaluation for hypotonia

    • Gastroenterology - Decreased vomiting

    • Endocrinology - Ineffective thermoregulation, early adrenarche, and/or osteoporosis, adrenal insufficiency [39]

    • Orthopedics – Scoliosis or kyphosis [48]

    • Developmental - Jigsaw puzzle proficiency [47]


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