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Dwarfism is a condition where children are of short stature, ranging to an adult height of between 2 feet 8 inches to 4 feet 10 inches. Also known as skeletal dysplasia, it can be caused by over 150 disorders where a child’s bones do not grow in the usual way.

Dwarfism can be caused by a genetic mutation such as a change in the egg or sperm cells prior to conception. It affects the ability of a child’s bones to grow to an average length and the bones are frequently short and crooked, especially in their arms, legs or trunk, which may be shorter than the rest of their body.

There are many reasons why children are shorter than their peers, and some factors include:

  • Short parents
  • A lack of hormones that control growth
  • A recurring disease affecting the child’s kidneys, heart or intestines
  • A digestive or nutritional problem stopping calcium and vitamin D from functioning properly in a child’s body and promoting growth

Types of dwarfism

Achondroplasia – This is the most common type of dwarfism and children with this type do not convert cartilage to bone during their growing period, especially in the long bones of the arms and legs. Children with this type of dwarfism have a normal size torso, but noticeably shorter arms and legs, and a larger head and distinct forehead. As adults, they can develop a sway in their lower back and bowed legs. The average height for an adult is 4 feet 1 inch for women and 4 feet 2 inches for men.

Diastrophic dysplasia – Children with diastrophic dysplasia have an abnormal cartilage structure preventing the proper formation of their bones. Children with this type of disorder have short calves and forearms and a progressive curvature of the spine. Sometimes they can have an inward or downward pointing of the foot, known as clubfoot. Patients with this type of dysplasia have limited movement due to the joint deformities and can make it difficult to walk, possibly requiring the use of crutches or a wheelchair as they age.

Spondyloepiphyseal dysplasia – This is a rare genetic disorder that affects bone growth and is commonly known as SED. Children with SED have a problem with how the type II collagen gene assembles, interfering with normal bone development and connective tissue. Patients with this disorder have short limbs, neck and torso but average-sized feet and hands, as well as a curvature of the spine that can result in respiratory problems and spinal cord damage. SED patients may develop limited joint mobility and arthritis early in their life.

Signs of dwarfism

Children with dwarfism are far below the average height for their age and may not experience full motion in their joints. Some symptoms that may indicate this disorder are:

  • A disproportionately large head with a prominent forehead and flattened bridge of the nose
  • Bowlegs or knock-knees, protruding inward
  • Children are not growing as quickly as their peers
  • Delayed growth
  • Limited mobility at the elbows
  • Short fingers
  • Wide or web-like neck

Diagnosing dwarfism

Doctors are usually able to diagnose achondroplasia before a baby is born through an ultrasound in the latter part of pregnancy. The ultrasound will show if a baby’s arms and legs are shorter than average.

Other types of dwarfism may not be able to be diagnosed until after a baby is born and can be tested through the following:

Appearance – Because dwarfism has many distinct facial and skeletal features, your child’s appearance may help your doctor in making a diagnosis.

Family history – Your doctor may take a stature history in grandparents, parents and siblings to help determine the average range of height in your family and if short stature is present.

Genetic testing – Genetic tests are used to diagnose many types of dwarfism-related disorders. Your doctor may suggest genetic testing if they are not clear about the type of dwarfism your child may have. This is done through tests that assess the condition of X chromosomes from the blood cells.

Hormone testing – Another way to diagnose dwarfism is to assess levels of growth hormones or other hormones that are essential for your child’s growth and development.

Imaging technology – To determine the type of dwarfism your child may have, your doctor may order an X-ray of your child’s skull or skeleton. MRIs (magnetic resonance imaging) can also reveal any abnormalities of the pituitary gland or a section of the brain that plays a role in the function of hormones.

Measurements – During well-baby examinations measurements of your child’s head circumference, weight and height are taken and compared against the percentile ranking and expected future growth. If there are any trends in your child’s measurements, more can be taken over a specific period of time to determine if they have dwarfism.

Evaluation and treatment of dwarfism

Most treatments for dwarfism do not increase stature but can possibly reduce problems or complications that your child may have or experience as they become an adult.