Prader-Willi syndrome: systemic features
Written and reviewed by Dr Ibrahim Imam, Consultant Neurologist. Last reviewed .
Prader-Willi syndrome: systemic features. Short stature, Small hands and feet, Scoliosis, Hip dysplasia. Fully referenced neurology checklist.
Skeletal features
- Short stature
- Small hands and feet
- Scoliosis
- Hip dysplasia
- Straight ulnar border of hands
- Osteoporosis
Endocrine features
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Ophthalmic features
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Cardiorespiratory features
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Other systemic features
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References
- Butler MG, Manzardo AM, Forster JL. Prader-Willi syndrome: clinical genetics and diagnostic aspects with treatment approaches. Curr Pediatr Rev 2016; 12:136-166.
- Cassidy SB, Driscoll DJ. Prader-Willi syndrome. Eur J Hum Genet 2009; 17:3-13.
- Angulo MA, Butler MG, Cataletto ME. Prader-Willi syndrome: a review of clinical, genetic, and endocrine findings. J Endocrinol Invest 2015; 38:1249-1263.
- Irizarry KA, Miller M, Freemark M, Haqq AM. Prader Willi syndrome: genetics, metabolomics, hormonal function, and new approaches to therapy. Adv Pediatr 2016; 63:47-77.
