Dwarfism Definition, Reason, Symptoms, Treatment & Prevention
Understanding
Dwarfism is a condition of short stature that occurs as a result of genetic or medical factors. Dwarfism is generally defined as adult height equal to or less than 147 centimeters (4 feet 10 inches). The average adult height for those with dwarfism is 122 centimeters (4 feet).
Various medical conditions can cause dwarfism. In general, the conditions that cause dwarfism fall into two broad categories:
- Disproportionate dwarfism, that is, when the body size is disproportionate – some parts of the body appear small and some other parts appear medium or larger than average size. Conditions that cause disproportionate dwarfism inhibit bone development.
Most individuals with dwarfism have a condition that results in a disproportionately short stature. Generally, these are of average build, but short arms and legs. In this condition, the head appears disproportionately larger than the body.
- Proportional Dwarfism. The body is said to be proportionally small if all parts of the body are small to the same degree and look like a proportional body with a small size. Medical conditions that are present at birth or begin in childhood can limit growth and development before it reaches a point of full growth.
Reason
Most dwarfism conditions are caused by genetic diseases. However, the causes of some of these conditions are still not known with certainty. Most of the time, the diseases that cause dwarfism result from genetic mutations in the sperm or egg cells at the time of conception.
The causes for each of the conditions that lead to dwarfism are discussed further below:
- Achondroplasia. About 80 percent of individuals with achondroplasia are born to parents of average height. Those who have achondroplasia with two parents who are of normal height, get one mutated gene from one parent and one normal gene. People with this condition can pass between genes that have mutations or normal genes to their children.
- Turner’s Syndrome. This condition only affects women. Can occur when one of the sex chromosomes (chromosome X) is missing or partially missing. Females get an X chromosome from each parent. Women with Turner syndrome have only one fully functional X chromosome.
- Growth hormone deficiency. The cause of growth hormone deficiency can sometimes be linked to genetic mutations or injury. However, for the majority of individuals who develop this condition, a definite cause cannot be identified.
Symptom
In addition to short stature, other signs and symptoms of dwarfism can vary according to the spectrum of disease present.
The most common cause of disproportionate dwarfism is achondroplasia. This condition causes disproportionately short treatments. Generally, show signs and symptoms as follows:
- Average sized body
- Short arms and legs, especially shorter forearms and upper legs.
- The fingers are short, sometimes with a very wide separation between the middle and ring fingers.
- Limited range of motion at the elbow joint
- The head is disproportionately large, with a prominent forehead and a flat nose bridge.
- Abnormal development of the foot shape
- Development of a slanted lower back
- Adult height is approximately 122 centimeters (4 feet)
One of the other causes of disproportionate dwarfism is Spondyloepiphyseal dysplasia congenital. Signs and symptoms of this condition can include:
- Short body
- Short neck
- Short arms and legs
- Hands and feet of average size
- The chest is wide and round
- Flat cheekbones
- A cleft in the roof of the mouth (cleft palate)
- Hip deformity that causes the femur to rotate inward
- Abnormally shaped legs
- Unstable neck bones
- Impaired vision and hearing
- Arthritis and problems with joint movement
- Adult height ranging from approximately 91 centimeters (3 feet) to 122 centimeters (4 feet)
Proportional dwarfism results from a medical condition that is present at birth or started in childhood, which then limits overall growth and development. So the head, body, arms, and legs are all small, but in proportion to each other.
Because these conditions affect overall growth, many conditions then lead to poor development of one or more of the body’s organ systems.
Growth hormone deficiency is one of the relatively common diseases that cause proportional dwarfism. This condition occurs when the pituitary gland doesn’t produce enough growth hormone, which is a hormone needed for a child’s normal growth.
- Signs and symptoms can include: Height below the third percentile on a standard child growth chart
- Slower growth rate with age
- Delay or absence of sexual development in adolescence
Diagnosis
Diagnosis of the disease that causes dwarfism can be determined from a detailed medical interview, direct physical examination, and certain supporting examinations if needed. Some of the supporting examinations that can be carried out are:
- Measurement. One of the things that is routinely done in a child’s physical examination is the measurement of height, weight, and head circumference.
At each visit, the doctor will document these measurements on a chart to show the current percentile for each of these elements. It is important to identify abnormal growth, such as delayed growth or a disproportionately large head.
- sighting. Some of the characteristic facial and skeletal appearances are associated with certain diseases that cause dwarfism.
- Imaging technology. The doctor may recommend imaging tests, such as X-rays because some bone abnormalities can indicate the possibility of an individual’s disease.
Magnetic resonance imaging (MRI) examination can also show abnormalities in the pituitary or hypothalamus glands, which both play a role in growth function.
- Genetic examination. Genetic testing can be done to find out certain genetic conditions that cause dwarfism. This examination is not always needed because the diagnosis can be determined through other tests.
- Hormone check. The doctor may recommend testing for growth hormones or other hormones that are important for growth and development.
Treatment
Most treatments for dwarfism will not increase stature. However, therapy can correct or relieve problems caused by complications that arise.
Surgical procedures that can be performed to treat problems in individuals with disproportionate dwarfism are:
- Correcting the direction of bone growth
- Stabilizes and corrects the shape of the spine
- Increase the size of the gap in the spine to relieve pressure on the spinal nerves
- Installing a shunt to remove excess fluid around the head
Other treatments that can be done include limb lengthening or hormonal therapy, depending on the disease that underlies the condition of dwarfism.