Dwarfism is a small stature caused by a hereditary or medical disease. Adult height of 4 feet 10 inches (147 cm) or below is considered dwarfism. People with dwarfism have an average adult height of 4 feet (122 cm).
Dwarfism is caused by a variety of medical disorders. In general, the diseases are classified into two types:
- Disproportionate dwarfism: When physical size is disproportionate, certain areas of the body are tiny while others are average or larger than usual. Disorders that cause disproportionate dwarfism prevent bone growth.
- Proportionate dwarfism: A body is proportionally tiny if all of its components are proportionately little and appear to be proportioned like a body of normal size. Medical problems that are present at birth or emerge during infancy restrict general growth and development.
Some people prefer the terms "dwarf" or "dwarfism" over "low stature" or "small people." As a result, it's critical to be sympathetic to the preferences of someone with this disease. Familial short stature – small height that is regarded a typical variation with normal bone growth — is not included in short stature diseases.
WHAT ARE THE SYMPTOMS OF DWARFISM?
Other than small height, signs and symptoms vary greatly throughout the range of illnesses.
Disproportionate dwarfism
The majority of dwarfs have diseases that lead them to be disproportionately short. This usually indicates that a person has a medium-sized trunk and relatively short limbs, however some persons have a very short torso and shortened (but proportionally huge) limbs. The head is excessively big in comparison to the body in several illnesses.
Almost everyone with disproportionate dwarfism has normal cognitive abilities. Rare exceptions are generally the consequence of a secondary condition, such as an accumulation of fluid surrounding the brain (hydrocephalus).
Achondroplasia, a condition that produces abnormally small stature, is the most prevalent cause of dwarfism. This condition generally causes the following symptoms:
- An average-size trunk
- Short arms and legs, especially upper arms and upper legs
- A head that is excessively big, with a high forehead and a flattened bridge of the nose.
- The development of bent legs throughout time
- The gradual development of a swaying lower back
- Short fingers, having a large gap between the middle and ring fingers.
- Elbow mobility issues
- An adult's height that is around 4 feet (122 cm)
A uncommon disease known as spondyloepiphyseal dysplasia congenita is another cause of disproportionate dwarfism (SEDC). Signs could include:
- A relatively short trunk
- A narrow neck
- A broad and rounded chest
- Arms and legs are shorter.
- Hands and feet of average size
- Hip abnormalities that cause the thighbones to bend inward
- A twisted or out-of-shape foot
- Cheekbones that are somewhat flattened
- Upper spine hunching curvature that progresses
- Lower back swaying develops gradually
- Hearing and vision issues
- Opening in the mouth's roof (cleft palate)
- Neck bone instabilities
- Arthritis and joint mobility issues
- Adult heights range from 3 feet (91 cm) to slightly more than 4 feet (122 cm)
Proportionate dwarfism
Proportionate dwarfism is caused by medical problems that are present at birth or emerge in early infancy and impede overall growth and development. So the head, trunk, and limbs are all little, yet they're all proportional. Many of these illnesses result in impaired development of one or more bodily systems because they impact overall growth.
A lack of growth hormone is a reasonably prevalent cause of proportional dwarfism. It happens when the pituitary gland fails to generate enough growth hormone, which is required for proper childhood growth. Among the signs are:
- On typical pediatric growth charts, height falls below the third percentile.
- Age-related growth is slower than planned.
- Sexual development is delayed or non-existent during the adolescent years.
WHAT ARE THE CAUSES OF DWARFISM?
The majority of dwarfism-related diseases are hereditary abnormalities, however the reasons of some are unclear. The majority of dwarfism cases are caused by a random genetic mutation in either the father's sperm or the mother's egg, rather than by either parent's whole genetic composition.
Achondroplasia
Achondroplasia affects around 80% of persons born to average-height parents. Achondroplasia patients with two normal-sized parents acquired one mutant copy of the disorder-causing gene and one normal copy of the gene. A person suffering from the condition may pass on either a mutant or normal copy to his or her offspring.
Turner syndrome
Turner syndrome, which mainly affects girls and women, occurs when a sex chromosome (the X chromosome) is absent or partially absent. Each parent gives a daughter an X chromosome. Turner syndrome is characterized by the presence of just one fully functional copy of the female sex chromosome rather than two.
Growth hormone deficiency
The reason of growth hormone insufficiency can occasionally be traced back to a genetic mutation or accident, but the majority of persons with the illness have no known cause.
Other causes
Other reasons of dwarfism include genetic abnormalities, hormone deficits, and inadequate diet. The reason is sometimes unknown.
WHAT ARE THE COMPLICATIONS OF DWARFISM?
Complications of dwarfism-related diseases vary significantly, however some are common to several ailments.
Disproportionate dwarfism
The similar characteristics of the skull, spine, and limbs shared by most kinds of disproportionate dwarfism result in the following issues:
- Delays in the development of motor abilities such as sitting up, crawling, and walking
- Frequent ear infections and the possibility of hearing loss
- Leg bending
- Breathing difficulties when sleeping (sleep apnea)
- At the base of the skull, there is pressure on the spinal cord.
- Extra fluid in the brain (hydrocephalus)
- Teeth crowding
- Arthritis
- Weight gain that can exacerbate joint and spine disorders, as well as put strain on nerves.
- Progressive severe hunching or swaying of the spine with back discomfort or breathing difficulties
- Spinal stenosis, which is a narrowing of the canal in the lower spine that causes pressure on the spinal cord and resultant pain or numbness in the legs.
Proportionate dwarfism
Growth and development issues in proportional dwarfism can result in challenges with poorly formed organs. Heart difficulties, for example, which are common in Turner syndrome, can have a severe impact on health. A lack of sexual maturation caused by growth hormone insufficiency or Turner syndrome has an impact on both physical development and social functioning.
Pregnancy
During pregnancy, women with disproportionate dwarfism may experience respiratory issues. Because the size and form of the pelvis prevents effective vaginal birth, a C-section (cesarean delivery) is nearly always required.
Public perceptions
The majority of persons with dwarfism prefer not to be identified by a condition. Some people, on the other hand, may refer to themselves as dwarfs, small people, or persons of diminutive stature. The term "midget" is widely seen as derogatory.
People of ordinary height may have preconceptions regarding dwarfs. In addition, stereotypes are frequently used in the representation of persons with dwarfism in current films. Misconceptions can have a negative influence on a person's self-esteem and restrict prospects for success in school or at work.
Dwarf children are more prone to mocking and scorn from their peers. Due to the rarity of dwarfism, children may feel separated from their classmates.
HOW IS DWARFISM DIAGNOSED?
Your physician will most likely look at a variety of indicators to evaluate your child's growth and if he or she has a dwarfism-related disease. If very small limbs disproportionate to the trunk are shown during a prenatal ultrasound, disproportionate dwarfism may be detected.
Among the diagnostic tests available are:
Measurements: The measuring of height, weight, and head circumference is a standard aspect of a well-baby medical checkup. Your physician will plot these measures on a chart at each appointment to display your child's current percentile score for each one. This is critical for detecting aberrant growth, such as delayed growth or an abnormally big head. If any of the trends in these charts worry you, your physician may recommend more regular measurements.
Appearance: Each dwarfism condition is associated with a unique set of facial and skeletal characteristics. Your child's looks may also aid your physician in making a diagnosis.
Imaging technology: Because specific anomalies of the skull and bones can indicate which illness your kid has, your doctor may request imaging exams such as X-rays. Various imaging technologies may also indicate delayed bone development, as seen in growth hormone insufficiency. A magnetic resonance imaging (MRI) scan may identify pituitary gland or hypothalamic abnormalities, both of which are involved in hormone function.
Family history: Your physician may request a stature history from siblings, parents, grandparents, or other relatives to see whether the typical height range in your family includes low stature.
Hormone tests: Your doctor may request tests to measure levels of growth hormone or other hormones important for children growth and development.
Genetic tests: Many of the known causative genes of dwarfism-related illnesses have genetic testing available, although these tests aren't always required to provide an appropriate diagnosis. When additional evidence is ambiguous or as part of ongoing family planning, your doctor is likely to recommend a test to distinguish between possible illnesses. If your physician suspects your daughter has Turner syndrome, a particular lab test that examines the X chromosomes retrieved from blood cells may be performed.
WHAT ARE THE TREATMENTS FOR DWARFISM?
Treatment aims to improve functionality and independence. The majority of dwarfism therapies do not improve height but may alleviate or reduce issues.
Surgical treatments
The following surgical techniques may help patients with disproportionate dwarfism:
- Changing the direction in which bones develop
- Stabilizing and modifying the spine's form
- Increasing the size of the hole in the vertebrae of the spine to relieve pressure on the spinal cord
- If excess fluid surrounding the brain (hydrocephalus) accumulates, a shunt is placed to drain it.
Hormone therapy
Individuals with dwarfism caused by a lack of growth hormone may benefit from therapy with injections of a synthetic form of the hormone. In most cases, children take daily injections for several years until they achieve their maximal adult height, which is frequently within their family's average adult range.
Treatment may be continued throughout adolescence and early adulthood to ensure adult maturity, such as proper muscle or fat accumulation. Some people may require counseling for the rest of their lives. If other associated hormones are lacking, the therapy may be supplemented with them as well.
Treatment for Turner syndrome females also includes estrogen and associated hormone treatment in order for them to enter puberty and reach adult sexual development. Estrogen replacement medication is normally continued throughout a woman's life until she reaches the average menopause age.
Growth hormone treatment does not raise ultimate adult height in children with achondroplasia.
Ongoing medical care
Regular exams and continuous treatment from a dwarfism-experienced doctor can enhance quality of life. Because of the variety of symptoms and repercussions, therapies are designed to address issues as they arise, such as ear infections, spinal stenosis, or sleep apnea.
Adults with dwarfism should be checked and treated for issues that arise throughout their lives.
Limb elongation
Some persons with dwarfism prefer to have extended limb lengthening surgery. Many persons with dwarfism are opposed to this operation because, as with other procedures, there are hazards. Because of the mental and physical hardship involved with many treatments, it is advised that limb lengthening be delayed until the person with dwarfism is mature enough to participate in the choice.