Dwarfism - Diagnosis & Treatment

How is dwarfism diagnosed?

Some forms of dwarfism may be suspected in utero such as during a prenatal ultrasound if very short limbs are observed. Otherwise, dwarfism may be diagnosed at birth or later during infancy, through tests such as X-rays and a physical exam.

To diagnose dwarfism, your doctor may review the following:

• Family history. Your specialist may check the height history of siblings, parents, grandparents or other relatives.
• Appearance. Certain facial and skeletal features are associated with several dwarfism disorders and may help your specialist to make a diagnosis.
• Measurements. Your specialist may take height, weight and head circumference measurements to identify abnormal growth, such as delayed growth or a disproportionately large head.
• Imaging results. Imaging studies such as X-rays can reveal abnormalities of the skull and skeleton, and delayed maturation of bones (e.g. due to a growth hormone deficiency). A magnetic resonance imaging (MRI) scan may reveal abnormalities of the pituitary gland or hypothalamus, which affect hormone production.
• Genetic tests. DNA tests may be done before or after birth to look for genetic mutations linked to dwarfism.
• Hormone tests. Your doctor may order tests that assess levels of growth hormone or other hormones that are critical for childhood growth and development.

How is dwarfism treated?

While there is no treatment for dwarfism per se, certain treatments can help to manage the symptoms associated with dwarfism:

Surgery

Surgical procedures can help to improve disproportionate dwarfism by:

• Correcting or stabilising spine shape curvature.
• Realigning or correcting bone growth in the right direction such as leg bowing.
• Lengthening the limbs, although this is a controversial option as there are many potential complications associated with the procedure.
• Removing excess fluid around the brain through a shunt.
• Relieving pressure on the spinal cord.

Hormone therapy

To treat dwarfism caused by a growth hormone deficiency, synthetic hormones injections may be used to increase the final height.

Ongoing health care

In many cases, people with dwarfism have orthopaedic or medical complications.

Adults with dwarfism should go for regular checkups and be treated for ongoing problems that occur such as ear infections, spinal stenosis or sleep apnoea.