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What is Dwarfism? |
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Symptoms
An adult person with dwarfism has a significantly shorter stature than is normal to his or her age, usually at a maximum height of four feet ten inches. Adult people with dwarfism fall into an average range of height which is between two feet four inches to four feet eight inches. Since there are over 200 underlying conditions which may lead to dwarfism, the symptoms of the condition (apart from the short stature) differ among the various disorders. But these are generally classified into two categories, one of which is disproportionate dwarfism, wherein certain parts of the body are small and others are of normal or slightly above-normal size. On the other end of the spectrum, proportionate dwarfism is evidenced by a body which is proportionately small, appearing more like an average-sized adult body, but on a smaller scale.
Causes
The usual cause of dwarfism is a genetic disorder with a relatively unknown cause. But the random mutation occurs on either parent’s reproductive cell, rather being a part of their genetic makeup. Achondroplasia is one such disorder, wherein eighty percent of people with it are born to parents of average adult height; these obtain a mutated gene copy which is related to the disorder from one parent and a standard gene copy from another. The person with the condition may then pass a mutated copy of his or her own gene to the next generation. Similarly, Turner’s syndrome happens when a person obtains an incomplete pair of chromosomes from either reproductive cell, particularly the X chromosome. Growth hormone deficiency is believed to be linked to a genetic mutation or damage.
Diagnosis
Dwarfism can be identified early on, at the guidance of a pediatrician, and usually after several specialists have evaluated the child. A normal part of a young child’s physical exam is the assessment of body growth and proportion. Regular measurements are plotted on a chart in order to determine and project the child’s development. The pediatrician may also base the diagnosis by evaluating the child’s physical appearance, since various facial and skeletal characteristics are indicative of a disorder which may cause dwarfism. These characteristics may be assessed as well with imaging techniques like X-rays and MRI scans. If the doctor suspects that the child has Turner’s syndrome, genetic tests may be conducted to determine the condition of the patient’s chromosome pairings.
Treatment Info
Although the treatments for dwarfism will not actually improve on the patient’s stature, these can otherwise prevent the potential problems of a complication. Patients with disproportionate dwarfism may undergo surgical procedures, like the insertion of metal staples to bones in order to assist in proper growth, the division of a limb’s bone and replacing the gap with metal plates, insertion of rods on the spine to correct its shape, and creating larger gaps on the spine in an attempt to relieve pressure on the spinal cord. The patient may also undergo hormone therapy, synthesized hormone injections which make up for a deficiency. Many children who have the condition receive injections on a daily basis for years, or up to the point where they obtain their height limit.
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