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Dwarfism Diagnosis

By Dr Ananya Mandal, MD

A diagnosis of dwarfism or restricted growth is based on a number of factors. A pediatrician will evaluate the child’s growth and development using a range of tests. Some of the steps taken to diagnose this condition include:

Well-baby examination

At each well-baby examination, the baby’s weight, height and head circumference are taken as part of routine check-up. The doctor records the measurements in a chart, to keep track of the baby’s growth and development. The chart can be used to predict the expected growth rate, which is important for identifying any abnormal growth in the future. If any of the measurements cause concern, the physician will start to increase the frequency of the measurements. The physician will also cheek the appearance of the baby and will notice any facial or skeletal characteristics of dwarfism.

Family history

The physician may also ask for a history of stature among the relatives of the baby in order to establish whether short stature is a normal feature in the family.

Hormone tests

Tests may be arranged to check the baby’s level of growth hormone as well as other hormones essential to growth and development. The level of growth hormone can be checked using a growth hormone stimulation test, to check the level in the blood rises as would be expected. If there is an abnormality in the production of growth hormone, the level in the blood is lower than expected, indicating a deficiency.

Imaging studies

Imaging studies that may be performed include X-ray to check the skull and skeleton and magnetic resonance imaging (MRI) to check whether there are any abnormalities in the pituitary gland or hypothalamus, parts of the brain that are both involved in hormone function.

Genetic tests

A variety of tests are available to check for the presence of genes known to be involved in dwarfism, but these tests alone are not usually enough to base a diagnosis on. A doctor would probably only arrange genetic testing if other evidence was not pointing towards a clear diagnosis. If Turner syndrome is suspected, a specific genetic test may be arranged to check the X chromosomes.

Reviewed by , BSc

Further Reading

Last Updated: May 21, 2014

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