What are the genetic causes of normal variant short stature?

Updated: Jan 06, 2021
  • Author: Sunil Kumar Sinha, MD; Chief Editor: Robert P Hoffman, MD  more...
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Answer

Causes of normal variant short stature (also called familial short stature) include the following:

  • Genetic (known defect)

    • Down syndrome (trisomy 21)

    • Silver-Russell syndrome

    • Hypochondroplasia

    • SHOX gene mutations

    • Turner syndrome

    • Leri-Weill dyschondrosteosis

    • Growth Hormone secretagogue receptor gene mutation (GHSR)

    • Insulin receptor gene mutations (leprechaunism)

    • Natriuretic peptide receptor- B (NPR2) mutations

  • Genetic (unknown defect)


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