Dwarfism is short stature that results from a genetic or medical condition. Dwarfism is generally defined as an adult height of 4 feet 10 inches (147 centimeters) or less. The average adult height among people with dwarfism is 4 feet (122 cm).
Many different medical conditions cause dwarfism. In general, the disorders are divided into two broad categories:
- Disproportionate Dwarfism- If body size is disproportionate, some parts of the body are small, and others are of average size or above-average size. Disorders causing disproportionate dwarfism inhibit the development of bones.
- Proportionate Dwarfism- A body is proportionately small if all parts of the body are small to the same degree and appear to be proportioned like a body of average stature. Medical conditions present at birth or appearing in early childhood limit overall growth and development.
Some people prefer the term "short stature" or "little people" rather than "dwarf" or "dwarfism." So it's important to be sensitive to the preference of someone who has this disorder. Short stature disorders do not include familial short stature — short height that's considered a normal variation with normal bone development.
SYMPTOMS 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).
CAUSES OF DWARFISM
The most common cause of dwarfism is a disorder called Achondroplasia,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 spondyloepiphyseal 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
- A foot that's twisted or out of shape
- Instability of the neck bones
- Progressive hunching curvature of the upper spine
- Progressive development of swayed lower back
- Vision and hearing problems
- Arthritis and problems with joint movement
- Adult height ranging from 3 feet (91 cm) to just over 4 feet (122 cm)
Proportionate dwarfism results from medical conditions present at birth or appearing in early childhood that limit overall growth and development. So the head, trunk and limbs are all small, but they are proportionate to each other.Because these disorders affect overall growth,many of them result in poor development of one or more body systems.
Growth hormone deficiency is a relatively common cause of proportionate dwarfism. 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
CAUSES OF DWARFISM
Most dwarfism-related conditions are genetic disorders, but the causes of some disorders are unknown. Most occurrences of dwarfism result from a random genetic mutation in either the father's sperm or the mother's egg rather than from either parent's complete genetic makeup.
ACHONDROPLASIA : 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 : 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.
- Genetic disorders.
- Deficiencies in other hormones or
- Poor nutrition.
- Sometimes the cause is unknown.
COMPLICATIONS OF DWARFISM
Complications of dwarfism-related disorders can vary greatly, but some complications are common to a number of conditions.
Disproportionate dwarfism : The characteristic features of the skull, spine and limbs shared by most forms of disproportionate dwarfism result in some common problems:
- Delays in motor skills development, such as sitting up, crawling and walking
- Frequent ear infections and risk of hearing loss
- Bowing of the legs
- Difficulty breathing during sleep (sleep apnea)
- Pressure on the spinal cord at the base of the skull
- Excess fluid around the brain (hydrocephalus)
- Crowded teeth
- Progressive severe hunching or swaying of the back with back pain or problems breathing
- Narrowing of the channel in the lower spine (spinal stenosis), resulting in pressure on the spinal cord and subsequent pain or numbness in the legs
- Weight gain that can further complicate problems with joints and the spine and place pressure on nerves
With proportionate dwarfism,problems in growth and development often result in complications with poorly developed organs.For example,heart problems that often occur with Turner syndrome can have a significant effect on health. 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 does not allow for successful vaginal delivery.
DIAGNOSIS OF DWARFISM
Pediatrician will likely examine a number of factors to assess child's growth and determine whether he or she has a dwarfism-related disorder. In some cases,disproportionate dwarfism may be suspected during a prenatal ultrasound if very short limbs disproportionate to the trunk are noted.
Some diagnostic tests may include:
- A regular part of a well-baby medical exam is the measurement of height, weight and head circumference. At each visit, our pediatrician will plot these measurements on a chart to show our 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, our pediatrician may make more-frequent measurements.
- Many distinct facial and skeletal features are associated with each of several dwarfism disorders. Your child's appearance also may help our pediatrician to make a diagnosis.
- Imaging technology-Our doctor may order imaging studies,such as X-rays, because certain abnormalities of the skull and skeleton can indicate which disorder our 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-Genetic tests are available for many of the known causal genes of dwarfism-related disorders,but these tests often are not necessary to make an accurate diagnosis.Our doctor is likely to suggest a test only to distinguish among possible diagnosis when other evidence is unclear or as a part of further family planning. If our pediatrician believes our daughter may have Turner syndrome, then a special lab test may be done that assesses the X chromosomes extracted from blood cells.
- Family history-Our pediatrician may take a history of stature in siblings, parents, grandparents or other relatives to help determine whether the average range of height in your family includes short stature.
- Hormone tests-Our doctor may order tests that assess levels of growth hormone or other hormones that are critical for childhood growth and development.
Specialists in our care team may include:
- Hormone disorder specialist (endocrinologist)
- Ear, nose and throat (ENT) specialist
- Specialist in skeletal disorders (orthopedist)
- Specialist in genetic disorders (medical geneticist)
- Heart specialist (cardiologist)
- Eye specialist (ophthalmologist)
- Mental health provider, such as a psychologist or psychiatrist
- Nervous system abnormalities specialist (neurologist)
- Dental specialist in correcting problems with teeth alignment (orthodontist)
- Developmental therapist, who specializes in therapy to help your child develop age-appropriate behaviors, social skills and interpersonal skills
- Occupational therapist, who specializes in therapy to develop everyday skills and to use adaptive products that help with everyday activities
HOMEOPATHIC MEDICINE FOR DWARFISM
BARYTA CARB : Useful for dwarfism in children with difficulty in speech.Suited to those child who is not reacting well to stranger or change.Helpful when child finds social interaction very challenging.
SILICEA : Best suited to those children who are obstinate, headstrong, cry when spoken kindly.Useful when mental labor is very difficult.Given to those children who is unable to read and write. There is slowness in learning to walk.
CALCAREA PHOS : Recommended to those children who is emaciated.Given when there is inability to stand and slow learning to walk.Useful for weak spine with disposed to curvature,especially to the left.Given when child is unable to support body and head.There is weak neck
Other Medicine: RL-33, RL-45