A diagnosis of restricted growth (dwarfism) is based on symptoms, height measurements, family history and tests.

A diagnosis of restricted growth (dwarfism) is based on symptoms, height measurements, family history and tests.

Depending on the cause of the condition, restricted growth may be diagnosed before or soon after a child is born, or when growth problems become more obvious as they get older.

Tests may not need to be carried out if you or your child don’t have any other health problems.

Diagnosing growth hormone deficiency

Growth hormone deficiency is usually diagnosed using growth hormone stimulation tests.

Medicine is injected into a vein to cause growth hormone levels in the blood to increase. If the level of growth hormone is found to be lower than normal, it indicates growth hormone deficiency.

A scan of the brain is necessary to look at the pituitary gland (which produces growth hormone) if blood tests show low levels of growth hormone.

Diagnosing conditions that cause restricted growth

The following tests can be used to diagnose a condition that causes short stature:

  • blood tests to check for any liver, kidney and bone problems or malnutrition – blood tests can also be used to analyse chromosomes, which can help to diagnose some genetic conditions, such as Turner syndrome
  • urine tests to confirm some enzyme deficiency disorders – such as mucopolysaccharide disease
  • imaging tests such as X-rays or MRI scans to check for abnormalities in the bones or pituitary gland – which may indicate growth hormone deficiency

Diagnosis in pregnancy 

Diagnosis during pregnancy (also called prenatal diagnosis) may be offered to parents who have a genetic history of a condition that causes short stature.

Some potential abnormalities may be visible during routine ultrasound scans, but tests such as chorionic villus sampling or amniocentesis are needed to confirm a diagnosis, as they can be used to see if your baby carries one of the faulty genes associated with restricted growth.

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