Achondroplasia Guidelines

Updated: May 11, 2020
  • Author: Shital Parikh, MD; Chief Editor: Jeffrey D Thomson, MD  more...
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JSPE Guidelines for Achondroplasia

In January 2020, the Japanese Society for Pediatric Endocrinology (JSPE) published the following clinical practice guidelines regarding achondroplasia [47] :

  • Cranial magnetic resonance imaging (MRI) is recommended to identify spinal cord compression due to foramen magnum stenosis.
  • Foramen magnum decompression is recommended for managing spinal cord compression due to foramen magnum stenosis associated with neurologic symptoms, abnormal neurologic findings, and central respiratory disorders.
  • An MRI cranial examination is recommended to identify ventricular enlargement with neurologic symptoms (hydrocephalus).
  • Shunt surgery is recommended for managing ventricular enlargement associated with neurologic symptoms (hydrocephalus).
  • Simple sleep studies and polysomnography (PSG) are selected for diagnosis of sleep apnea on the basis of circumstances. 
  • Noninvasive positive-pressure ventilation (PPV) is suggested for managing obstructive sleep apnea (OSA). 
  • Surgical treatment (tonsillectomy or adenoidectomy) is suggested when OSA is present with tonsillar or adenoid hypertrophy.
  • Spinal decompression is recommended for managing spinal canal stenosis associated with neurologic symptoms.
  • Delayed speech is observed in 25% of cases of achondroplasia.
  • Leg lengthening should be possible after the age of 12 years, under informed consent.