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Dwarfism, Constitutional Short Stature

Dwarfism is characterized by constitutional short stature. Technically, that means an adult whose height is 4 feet 10 inches or less has dwarfism. It can be caused by any one of more than 300 conditions, most of which are genetic. The most common type, accounting for 70% of all cases of short stature, is called achondroplasia. Dwarfism can and most often does occur in families where both parents are of average height. In fact, 4 out of 5 of children with achondroplasia dwarfism are born to average-size parents.

There are many forms of dwarfism. The word pituitary is in reference to the pituitary gland in the body. This gland regulates certain chemicals (hormones) in the body. Therefore, pituitary dwarfism is decreased bodily growth due to hormonal problems. The end result is a proportionate little person, because the height as well as the growth of all other structures of the individual is decreased.


Types of Dwarfism

There are two main categories of dwarfism. One category is disproportionate dwarfism, meaning that the person has some average-size parts of the body, such as the head and/or trunk, and some shorter-than-normal parts of the body, such as the legs and arms. The most common type of disproportionate dwarfism is achondroplasia. In fact achondroplasia accounts for about 70 percent of all cases of dwarfism.
The other main category of dwarfism is proportionate dwarfism, meaning that the person is small all over. Growth-hormone deficiency dwarfism, primordial dwarfism, and Seckel syndrome are types of proportionate dwarfism.

Symptoms of Dwarfism

  • Children with growth hormone deficiency have a slow or flat rate of growth (constitutional growth delay), usually less than 2 inches per year. The slow growth may not appear until a child is 2 or 3 years old.
  • The child will be much shorter than most or all children of the same age and gender.
  • Children with growth hormone deficiency still have normal body proportions, as well as normal intelligence. However, their face often appears younger than children of the same age. They may also have a chubby body build.
  • In older children, puberty may come late or may not come at all.

Causes of Dwarfism

More than 300 well-described conditions are known to cause short stature in a child. Most are caused by a spontaneous genetic change (mutation) in the egg or sperm cells prior to conception. Others are caused by genetic changes inherited from one or both parents. If parents have some form of dwarfism themselves, the odds are much greater that their children will also be little people. A genetic counselor can help determine the likelihood of passing on the condition in these cases.
Dwarfism has other causes, including metabolic or hormonal disorders in infancy or childhood. Chromosomal abnormalities, pituitary gland disorders (which influence growth and metabolism), absorptive problems (when the body can't absorb nutrients adequately), and kidney disease can all lead to short stature if a child fails to grow at a normal rate.

Possible Complications

Short stature is the one quality all people with dwarfism have in common. After that, each of the many conditions that cause dwarfism has its own set of characteristics and possible complications. Fortunately, many of these complications are treatable, so that people of short stature can lead healthy, active lives.
As a child with dwarfism grows, other issues may also become apparent, including:

  • delayed development of some motor skills, such as sitting up and walking
  • a greater susceptibility to ear infections and hearing loss
  • breathing problems caused by small chests
  • weight problems
  • curvature of the spine (scoliosis, kyphosis, and/or lordosis)
  • bowed legs
  • trouble with joint flexibility and early arthritis
  • lower back pain or leg numbness
  • crowding of teeth in the jaw

Treatment for Dwarfism

Proper medical care can alleviate many of the problems of dwarfism and its related symptoms. For example, surgery often can bring relief from the pain of joints that wear out under the stress of bearing weight differently with limited flexibility. Surgery also can be used to improve some of the leg, hip, and spine problems people with short stature sometimes face.
Nonsurgical options may help, too — for instance, excessive weight can worsen many orthopedic problems, so a nutritionist might help develop a healthy plan for shedding extra pounds. Doctors and physical therapists can recommend ways to increase physical activity without putting extra stress on the bones and joints.
In case of pituitary dwarfism, the main course of therapy is growth hormone replacement therapy when there is lack of growth hormone in the body. A pediatric endocrinologist, a doctor specializing in the hormones of children, usually administers this type of therapy before a child's growth plates have fused or joined together. Once the growth plates have fused, GH replacement therapy is rarely effective.


Authored By: Dr. S. V. Santpure

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