What are the genetic causes of short stature, and what predicts a pathologic etiology for short stature?

Updated: Jan 06, 2021
  • Author: Sunil Kumar Sinha, MD; Chief Editor: Robert P Hoffman, MD  more...
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Genetic causes of short stature are as follows:

  • Down syndrome (trisomy 21)

  • Ullrich-Turner syndrome (45,XO)

  • Lerí-Weill dyschondrosteosis (SHOX gene)

A study by Kärkinen et al indicated that in persons who, after age 3 years, have a height standard deviation score (SDS) below -3, short stature most often has a pathologic cause. Such was the case for 76% of girls and 71% of boys in the report, with causes including syndromes (most frequent etiology; 20% of the total 785 subjects in the study), organ disorders (16%), GHD (12%), small for gestational age without catch-up growth (9%), and skeletal dysplasias (7%). The investigators also found that the greater the severity of short stature and the mismatch with target height, the greater the chance that a growth-related pathology exists, especially a syndrome or skeletal dysplasia. [8]  

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