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Dwarfism Genetics continued...

Often parents of children with achondroplasia do not carry the mutated gene themselves. The mutation in the child occurs spontaneously at the time of conception.

Doctors do not know what causes a gene to mutate. It is a seemingly random occurrence that can happen in any pregnancy. When average-size parents have a child with dwarfism due to a spontaneous mutation, it is not likely that other children will also have the mutation. 

In addition to genetic skeletal dysplasia, short stature has other causes, including disorders of the pituitary, which influence growth and metabolism; kidney disease; and problems that affect the body's ability to absorb nutrients. 

Dwarfism Diagnosis

Some forms of dwarfism are evident at birth or during infancy and can be diagnosed through X-rays and a physical exam. A diagnosis of achondroplasia, diastrophic dysplasia, or spondyloepiphyseal dysplasia can be confirmed through genetic testing. In some cases, prenatal testing is done if there is concern for specific conditions.

Sometimes dwarfism doesn't become evident until later in a child's life, when dwarfism signs lead parents to seek a diagnosis. Here are signs and symptoms to look for in children that indicate a potential for dwarfism:

  • late development of certain motor skills, such as sitting up or walking
  • increased susceptibility to ear infections
  • breathing problems
  • weight problems
  • curvature of the spine
  • bowed legs
  • joint stiffness and arthritis
  • lower back pain or numbness in the legs
  • crowding of teeth


Dwarfism Treatments

Early diagnosis and treatment can help prevent or lessen some of the problems associated with dwarfism. People with dwarfism related to growth hormone deficiency can be treated with growth hormone. 

In many cases, people with dwarfism have orthopaedic or medical complications. Treatment of those can include:

  • Insertion of a shunt to drain excess fluid and relieve pressure on the brain.
  • A tracheotomy to improve breathing through small airways.
  • Corrective surgeries for deformities such as cleft palate, club foot, or bowed legs.
  • Surgery to remove tonsils or adenoids to improve breathing problems related to large tonsils, small facial structures, and/or a small chest.
  • Surgery to widen the spinal canal (the opening through which the spinal cord passes) to relieve spinal cord compression.

Other treatment may include:

  • Physical therapy to strengthen muscles and increase joint range of motion.
  • Back braces to improve curvature of the spine.
  • Placement of draining tubes in the middle ear to help prevent hearing loss due to repeated ear infections.
  • Orthodontic treatment to relieve crowding of teeth caused by a small jaw.
  • Nutritional guidance and exercise to help prevent obesity, which can aggravate skeletal problems.


WebMD Medical Reference

Reviewed by Roy Benaroch, MD on November 06, 2012

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