What Are the Genetic Causes of Short Stature in Children?

What Are the Genetic Causes of Short Stature in Children?

Short stature is when the child's height is below the statistical value (2 standard deviations (SD)) compared to other children of the same sex and age. It is a common condition accompanied by complex mechanisms. Although it varies according to society, age and gender, the average incidence is 2.5%.


  • Structural growth retardation
  • Precocious puberty
  • Endocrine diseases: Growth hormone deficiency, hypothyroidism (underactive thyroid gland), Cushing's syndrome
  • Bone diseases: Skeletal dysplasias
  • Chronic diseases: Rheumatological diseases, kidney diseases, metabolic diseases
  • Nutrition
  • Genetic diseases

Genetic disorders; It directly or indirectly causes short stature by disrupting bone growth, affecting hormonal and inflammatory pathways, causing chronic diseases. Thus, a significant percentage of short stature is caused by genetic reasons.

Major Genetic Causes

  • Turner Syndrome
  • SHOX gene disorders
  • Prader-willi syndrome
  • Noonan Syndrome
  • Silver-Russell syndrome
  • Skeletal dysplasias


If the cause of short stature is predicted to be a genetic disease or the cause has not been determined, it should be evaluated by a Medical Genetic physician. Tests that can be done in our Center for short stature:

  • Disease-specific gene tests
  • Growth hormone deficiency
  • Pseudohypoparathyroidism
  • Skeletal dysplasias
  • Noonan syndrome
  • Familial idiopathic short stature
  • Russell-Silver syndrome
  • Chromosome analysis (Turner syndrome and other chromosomal diseases)
  • Microarray analysis
  • Exome analysis

Exome analysis is seen as a powerful method in analyzing familial cases. With the emergence of new methods, it is seen that a significant part of short stature of unknown cause is caused by more genetic diseases.