Short stature in genetic syndromes: Selected issues

Adv Clin Exp Med. 2018 Mar;27(3):409-414. doi: 10.17219/acem/67051.


Short stature, which is defined as height below 2 standard deviations of the mean height for the age and sex, is one of the most frequent reasons for medical consultations in children. Short stature may occur due to a constitutional delay in growth, familial short stature or chronic diseases, including many genetic syndromes, metabolic and endocrine disorders. In this article the authors provide a mini-review of the most frequent genetic syndromes associated with short stature that should be taken into account in the differential diagnosis process. Syndromes caused by chromosomal aberrations and gene mutations were divided into 2 main groups: syndromes that are associated with intrauterine growth retardation (IUGR) and those in which IUGR does not occur in the natural history of the patient. The authors described the most important anomalies in each syndrome. Metabolic diseases and skeletal dysplasias were omitted, as they are major separate groups of diseases involving growth delay.

Keywords: IUGR; genetic syndromes; short stature.

Publication types

  • Review

MeSH terms

  • Body Height / genetics*
  • Child
  • Chromosome Aberrations
  • Fetal Growth Retardation / etiology
  • Growth Disorders / genetics*
  • Humans
  • Syndrome