Dwarfism is short stature that occurs as a result of a genetic or medical condition. It is described as an adult height of 4 feet 10 inches (147 centimeters) or less.
The average height for an adult with dwarfism is 4 feet (122 cm). Dwarfism can be caused my many medical conditions.
These disorders can be divided into:
Disproportionate dwarfism - in which some parts of the body are small while others are the average size or above average size. Conditions that cause this type of dwarfism inhibit the development of bones.
Proportionate dwarfism- in which all parts of the body are small to the same degree and appear to be proportioned like a body of the average structure.
Conditions that cause this type of dwarfism are present at birth or may occur in early childhood. They may limit the overall growth and development of a child.
It is necessary to be sensitive to a person who has this disorder as some people prefer the term "short stature" over "dwarf" or "dwarfism".
Signs and symptoms, other than short stature, vary considerably depending on the type of dwarfism.
Disproportionate dwarfism - most people with dwarfism have disorders that cause disproportionately short stature. Usually, this means that a person has an average-size trunk and very short limbs, but some people may have a very short trunk and shortened (but disproportionately large) limbs.
In these disorders, the head is disproportionately large compared with the body. Almost all people with disproportionate dwarfism have normal intellectual capacities.
Rare exceptions are usually the result of a secondary factor, such as excess fluid around the brain (hydrocephalus). The most common cause of dwarfism is a disorder called achondroplasia.
This condition which causes disproportionately short stature.
This disorder usually results in the following:
An average-size trunk
Short arms and legs, with particularly short upper arms and upper legs
Short fingers, often with a wide separation between the middle and ring fingers
Limited mobility at the elbows
A disproportionately large head, with a prominent forehead and a flattened bridge of the nose
Progressive development of bowed legs
Progressive development of swayed lower back
An adult height around 4 feet (122 cm)
Another cause of disproportionate dwarfism is a rare disorder called spondylo-epiphyseal dysplasia congenita (SEDC).
Signs may include:
A very short trunk
A short neck
Shortened arms and legs
Average-size hands and feet
Broad, rounded chest
Slightly flattened cheekbones
Opening in the roof of the mouth (cleft palate)
Hip deformities that result in thighbones turning inward
Adult height ranging from 3 feet (91 cm) to just over 4 feet (122 cm)
Proportionate dwarfism. Proportionate dwarfism results from medical conditions present at birth or appearing in early childhood that limits overall growth and development.
So the head, trunk, and limbs are all small, but they're proportionate to each other. Because these disorders affect overall growth, many of them result in poor development of one or more body systems.
A common cause of proportionate dwarfism is a deficiency of growth hormone. It occurs when the pituitary gland fails to produce an adequate supply of growth hormone, which is essential for normal childhood growth.
Height below the third percentile on standard pediatric growth charts
Growth rate slower than expected for age
Delayed or no sexual development during the teen years .
In most dwarfism occurs as a result of genetic disorders, however, the cause in some cases is still unknown.
Dwarfism can occur as a result of a random genetic mutation in either the father's sperm or the mother's egg rather than from either parent's complete genetic makeup.
About 80 percent of people with achondroplasia are born to parents of average height.
A person with achondroplasia and with two average-size parents received one mutated copy of the gene associated with the disorder and one normal copy of the gene.
A person with the disorder may pass along either a mutated or normal copy to his or her own children.
Turner syndrome. Turner syndrome, a condition that affects only girls and women, results when a sex chromosome (the X chromosome) is missing or partially missing.
A female inherits an X chromosome from each parent. A girl with Turner syndrome has only one fully functioning copy of the female sex chromosome rather than two.
Growth hormone deficiency can also cause dwarfism. The cause of growth hormone deficiency can sometimes be traced to a genetic mutation or injury, but for most people with the disorder, no cause can be identified.
Other causes of dwarfism include other genetic disorders, deficiencies in other hormones or poor nutrition.
4 Making a Diagnosis
Making a diagnosis of dwarfism is done by performing several tests.
Disproportionate dwarfism is usually present at birth or early in infancy while proportionate dwarfism may not be diagnosed until later in childhood or the teenage years.
Proportionate dwarfism is mostly diagnosed if a child isn't growing at an expected rate.
Annual visits to a pediatrician are important as these visits are an opportunity for the child's doctor to track growth, note delays in expected growth and identify other problems in physical development.
Pediatricians usually examine a number of factors to assess a child's growth and determine whether he or she has a dwarfism-related disorder.
Diagnostic tests may include:
Measurements. A regular part of a well-baby medical exam is the measurement of height, weight, and head circumference. Pediatricians usually plot these measurements on a chart to show a child's current percentile ranking for each one. This is important for identifying abnormal growth, such as delayed growth or a disproportionately large head. If any trends in these charts are a concern, a pediatrician may make more frequent measurements.
Appearance. Many distinct facial and skeletal features are associated with each of several dwarfism disorders. A child's appearance also may help your pediatrician to make a diagnosis.
Imaging technology. Imaging studies, such as X-rays, because certain abnormalities of the skull and skeleton can be used to indicate which disorder a child may have. Various imaging devices may also reveal delayed maturation of bones, as is the case in growth hormone deficiency.
A magnetic resonance imaging (MRI) scan may reveal abnormalities of the pituitary gland or hypothalamus, both of which play a role in hormone function.
Genetic tests are available for many of the known causal genes of dwarfism-related disorders, but these tests often aren't necessary to make an accurate diagnosis. If Turners’s syndrome is suspected, then a special lab test may be done that assesses the X chromosomes extracted from blood cells.
Family history may be taken to review a history of stature in siblings, parents, grandparents or other relatives and to help determine whether the average range of height in your family includes short stature.
Hormone tests that assess levels of growth hormone or other hormones that are critical for childhood growth and development therapy to develop everyday skills and to use adaptive products that help with everyday activities.
Weight gain that can further complicate problems with joints and the spine and place pressure on nerves.
Proportionate dwarfism. With proportionate dwarfism, problems in growth and development often result in complications with poorly developed organs.
An absence of sexual maturation associated with growth hormone deficiency or Turner syndrome affects both physical development and social functioning.
Women with disproportionate dwarfism may develop respiratory problems during pregnancy. A C-section (cesarean delivery) is almost always necessary because the size and shape of the pelvis don't allow for successful vaginal delivery.
Most people with dwarfism prefer not to be labeled by a condition. However, some people may refer to themselves as dwarfs or little people.
The word "midget" is generally considered an offensive term. People of average height may have misconceptions about people with dwarfism.
And the portrayal of people with dwarfism in modern movies often includes stereotypes. Misconceptions can impact a person's self-esteem and limit opportunities for success in school or employment.
Children with dwarfism are particularly vulnerable to teasing and ridicule from classmates. Children may feel isolated from their peers because dwarfism is relatively uncommon.
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