Learn about dwarfism, its causes, common symptoms, and find support resources for individuals with dwarfism on Meri Sehat.

Dwarfism

Overview

Dwarfism is a group of conditions characterized by a smaller-than-average stature, usually resulting from a genetic or medical condition. The term &quot;dwarfism&quot; generally applies to individuals whose adult height is less than 4 feet 10 inches (147 cm). 
&nbsp;

Dwarfism encompasses hundreds of disorders that disrupt the formation of bone and/or cartilage and cause small stature. The Little People of the World Organization (LPOTW) and Little People of America (LPA) define dwarfism as an average adult height of fewer than 4 feet 10 inches<a href="#accordion">[1]</a>.&nbsp;Familial short stature&mdash;a small height that is thought to be a normal variation with normal bone development&mdash;does not fall under the category of short stature diseases. 
&nbsp;

There are more than 300 different diseases that can bring about dwarfism. The most typical kind of dwarfism is achondroplasia which affects about 1 in 15,000 to 1 in 40,000 persons<a href="#accordion">[4]</a>. The disease is characterized by arms and legs that are comparatively shorter than the head and trunk. Additionally, people can have bigger heads and poor muscle tone. Dwarfism can also be brought on by other genetic disorders, renal disease, and metabolic or hormonal disturbances. 
&nbsp;

Dwarfism can result from disorders that can potentially harm one&#39;s health in other ways. The majority of them are curable. Individuals require lifelong regular checkups. Most persons with dwarfism lead active lives and have lifespans comparable to those of non-dwarfs with the right medical treatment. 
&nbsp;

The terms &quot;low stature&quot; or &quot;small people&quot; are sometimes preferred over &quot;dwarf&quot;, &quot;dwarfism&quot; or &quot;midgets&quot;. Thus, it&#39;s critical to respect the preferences of those who have this disease. 
&nbsp;
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Dwarfism can result from several different medical conditions. These disorders are broadly classified into proportionate and disproportionate dwarfism. 
&nbsp;

Disproportionate Dwarfism: A condition where certain parts of the body are smaller than normal while others are of average or larger size, resulting in an imbalance in body proportions. For example, the individual may have an average-size torso with short arms and legs. 
&nbsp;

Proportionate Dwarfism: This is characterized by proportionate but shortened body parts. Early growth and development may be constrained in infants who suffer from birth defects or illnesses. 
&nbsp;

The following are the most common types of dwarfism (skeletal dysplasia).

<ul>
	<li>The most prevalent kind of dwarfism, Achondroplastic Dwarfism, is distinguished by short limbs and a large forehead.</li>
	<li>Dwarfism caused by Hypochondroplasia is a mild form of short-limbed dwarfism with traits that are not present at birth.</li>
	<li>Pituitary Dwarfism results from a growth hormone deficiency</li>
	<li>Primordial Dwarfism is a kind of dwarfism in which individuals have a small body size throughout life, starting even before birth.</li>
	<li>A less frequent but extremely severe variant of dwarfism known as Thanatophoric Dysplasia results in extremely small limbs and a narrow thorax. It frequently results in newborns dying soon after birth from respiratory problems. 
	&nbsp;</li>
</ul>
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Signs and Symptoms

<h5>Disproportionate Dwarfism</h5>

The majority of individuals with dwarfism suffer from diseases that result in abnormally small heights. Typically, this denotes that a person has an average-sized trunk and short limbs, but some individuals may have an extremely short torso and shortened s (yet disproportionally large) limbs. Moreover, the head is excessively big relative to the body. 
&nbsp;

The vast majority of people with disproportionate dwarfism possess mental capabilities that are within the average range. However, dwarfism due to secondary factors, such as hydrocephalus, can result in intellectual dysfunction. 
&nbsp;

The most frequent cause of dwarfism is achondroplasia, a condition that results in abnormally small heights. It typically results in the following signs and symptoms:

<ul>
	<li>An average-size trunk</li>
	<li>Short limbs, particularly the upper arms and upper legs</li>
	<li>Short fingers, with the middle and ring fingers separated with a wide space</li>
	<li>Elbow has limited movement</li>
	<li>Bowed legs that develop progressively</li>
	<li>A swayed lower back</li>
	<li>Disproportionately large head, with a flattened bridge of the nose and a prominent forehead</li>
	<li>Adult height of approximately 4 feet (122 cm) 
	&nbsp;</li>
</ul>

Disproportionate dwarfism can also be caused by a rare condition called spondyloepiphyseal dysplasia congenita (SEDC). The common signs and symptoms are:

<ul>
	<li>A shortened trunk short neck</li>
	<li>Shortened limbs</li>
	<li>Average-size hands and feet</li>
	<li>A broad, rounded chest</li>
	<li>Flattened cheekbones</li>
	<li>Cleft palate</li>
	<li>Inward facing thighbones due to hip anomalies</li>
	<li>Out of shape or twisted foot</li>
	<li>Unstable neck bones</li>
	<li>Hunching of the upper spine</li>
	<li>Swayed lower back</li>
	<li>Issues with hearing and vision</li>
	<li>Issues with joint mobility and</li>
	<li>Arthritis</li>
	<li>Adults height ranges between 3 to just over 4 feet 
	&nbsp;</li>
</ul>

<h5>Proportionate Dwarfism</h5>

Proportionate dwarfism can be the result of congenital or early infancy medical conditions that restrict overall growth and development. In such cases, the head, trunk, and limbs are all shortened but still proportional to each other. 
&nbsp;

Many of these disorders cause one or more bodily systems to develop improperly because they impair overall growth. A somewhat prevalent cause of proportional dwarfism is a growth hormone deficiency. It results from the pituitary gland&rsquo;s inability to generate enough growth hormone, which is necessary for healthy childhood growth. 
&nbsp;

Symptoms include:

<ul>
	<li>Children have a height that falls below the third percentile</li>
	<li>A growth rate that&#39;s slower than expected for the age</li>
	<li>Delayed or lack of sexual development during teenage years 
	&nbsp;</li>
</ul>

Sometimes the abnormal bone growth in dwarfism can result in additional health concerns, such as:

<ul>
	<li><a href="https://merisehat.pk/disease/scoliosis">Scoliosis</a></li>
	<li>Hydrocephalus</li>
	<li>Ear infections or hearing difficulties</li>
	<li>Nerve compression</li>
	<li><a href="https://merisehat.pk/disease/sleep-apnea-91">Sleep apnea</a></li>
	<li>Knee and ankle pain 
	&nbsp;</li>
</ul>
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Causes

There are several probable reasons for dwarfism (skeletal dysplasia). Most cases of dwarfism are a result of genetic changes.&nbsp; However, some cases have an unknown cause. 
&nbsp;

Some common causes of dwarfism are 
&nbsp;

<ul>
	<li>Family History: A child can be short in height if their parents and other family members are short. However, most children with dwarfism have average-height parents. 
	&nbsp;</li>
	<li>Genetic Mutation: Modifications to a person&#39;s DNA. Most genetic mutations that cause dwarfism are sporadic and not inherited. 
	&nbsp;</li>
	<li>Growth Hormone Deficiency: Insufficient production of the hormone that allows bones to develop in the body. 
	&nbsp;</li>
	<li>Late Bloom: Some children are short early in childhood because they are genetically predisposed to develop later than their peers. Sometimes, a similar development trend runs in the family. 
	&nbsp;</li>
	<li>Malnutrition: A child&#39;s capacity to grow may be hampered by inadequate nutrition. 
	&nbsp;</li>
	<li>Small For Gestational Age: The newborns who are small for their gestational age will catch up with their growth during the first two to three years of life, but 10% do not. 
	&nbsp;</li>
	<li>Turner&rsquo;s Syndrome: Only women are afflicted by this illness. Affected individuals only receive one X chromosome from their parents, and lack a second, or at least a portion of the second, X chromosome. This is different from getting two completely functional X chromosomes from the parents. X and Y chromosomes are found in males. 
	&nbsp;</li>
</ul>
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Diagnosis

There are no screening tests for dwarfism. However, prenatal screening tests can help identify growth abnormalities in the fetus.&nbsp; When small limbs are observed that are out of proportion to the trunk during a prenatal ultrasound, disproportionate dwarfism may occasionally be inferred.&nbsp; In some cases, genetic testing might be conducted while a fetus is still developing. 
&nbsp;

After birth, the physician will evaluate the child&rsquo;s growth during annual wellness visits. Some diagnostic exams include

<ul>
	<li>Measurements - The measurement of a baby&#39;s height, weight, and head circumference are standard components of a well-baby physical examination. The child&#39;s percentile standing for each of these measurements will be plotted on a chart by the physician at each appointment. This is essential for spotting aberrant growth, such as delayed growth or an unnaturally huge head. The physician may take more frequent measurements if they notice any worrisome changes in the chart. 
	&nbsp;</li>
	<li>Appearance: Each of the several dwarfism disorders is characterized by a variety of distinctive facial and skeletal traits. 
	&nbsp;</li>
	<li>Imaging Test: Because specific anomalies of the skull and bones can suggest which condition the child may have, the doctor may request imaging tests like X-rays. Imaging scans may also help detect delayed bone development which is seen in growth hormone deficiency. An MRI scan is typically used to detect abnormality in the pituitary gland or hypothalamus, both of which are involved in hormone function. 
	&nbsp;</li>
	<li>Genetic Tests: Many of the known causative genes for dwarfism-related illnesses are the subject of genetic tests. However, they are often not necessary for a diagnosis. The doctor will probably recommend a genetic test only to differentiate between potential diagnoses when other evidence is contradictory or as part of further family planning. If the doctor suspects Turner syndrome, karyotyping may be performed. 
	&nbsp;</li>
	<li>Family History: The physician may ask about a family history of short stature, especially in the siblings, parents, grandparents, or other family members 
	.</li>
	<li>Hormone Tests: The doctor may recommend tests to assess growth hormone levels and levels of other hormones essential for normal growth and development in children. 
	&nbsp;</li>
</ul>
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Treatment

The aim of treatment is to maximize functionality and independence. Dwarfism therapies do not usually improve height, however, they may ease problems due to complications. 
&nbsp;

<h5>Surgical Intervention</h5>

Individuals with disproportionate dwarfism may benefit from the following surgical treatments to address their issues: 
&nbsp;

<ul>
	<li>Changing the direction in which bones develop</li>
	<li>Ensuring the spine is stable and in proper alignment.</li>
	<li>Increasing the size of the opening in bones of the spine (vertebrae) to alleviate pressure on the spinal cord</li>
	<li>Inserting a shunt to drain any surplus fluid around the brain in case of hydrocephalus.</li>
	<li>Limb lengthening surgery: Some people with dwarfism choose to undergo a surgery called extended limb lengthening. This procedure is controversial because, as with all surgeries, there are various risks. 
	&nbsp;</li>
</ul>

<h5>Hormonal Treatment</h5>

In people with a growth hormone deficiency, injections of a synthetic version of the hormone may help increase height. Children are given injections to help them reach a height that is within the range of an average adult in their family. Treatment may be continued throughout the adolescent years and the early years of adulthood. The majority of the time, children are given daily injections for several years until they achieve their maximum adult height. Some patients can require lifetime therapy. If other associated hormones are lacking as well, they could be added to the medication. 
&nbsp;

To start puberty and attain adult sexual development, treatment for females with Turner syndrome also necessitates estrogen and associated hormone therapy. Until women with Turner syndrome reach the typical menopause age, estrogen replacement medication is often administered throughout the course of their lives. The eventual adult height of children with achondroplasia is not increased by growth hormone therapy. 
&nbsp;

<h5>Other Treatments</h5>

<ul>
	<li>Affected individuals are often advised physiotherapy to strengthen muscles and improve their range of motion. </li>
	<li>In people with scoliosis, back braces can help improve spine curvature.</li>
	<li>Repeated ear infections are often treated with the help of a myringotomy. </li>
	<li>Orthodontic treatments can help improve the crowding of teeth due to a small jaw.</li>
	<li>Exercise and diet can help maintain a healthy weight and prevent obesity which can increase skeletal problems. 
	&nbsp;</li>
</ul>

Dwarfism is frequently associated with health issues. These range from troubles with the back and legs to problems with the brain and lungs. The most prevalent issues related to disproportionate dwarfism are:

<ul>
	<li>Bowed legs</li>
	<li>Arthritis</li>
	<li>Progressive hunching of the back</li>
	<li>Pressure on the spinal cord as a result of a restricted channel in the lower spine (spinal stenosis)</li>
	<li>Excess brain fluid (hydrocephalus)</li>
	<li>Sleep apnea</li>
	<li>Delays in motor skills development as a baby</li>
	<li>An increase in body weight that could potentially burden the spine and joints. 
	&nbsp;</li>
</ul>

In individuals with proportionate dwarfism, inadequate organ development may result in noteworthy health issues. People with dwarfism may experience additional pregnancy-related risks, such as respiratory issues. Because the pelvic area is too large for a vaginal delivery, a cesarean delivery is typically required. 
&nbsp;

The majority of the time, genetic mutations cause dwarfism. However, there are a few ways that carrying a gene or genes that cause dwarfism might manifest itself.Sometimes it can happen on its own. It&#39;s possible that you didn&#39;t inherit any mutated genes from your parents. Instead, a mutation in your DNA occurs on its own, frequently without a known reason. 
&nbsp;

There are two types of inherited genetic illnesses. One is recessive, which means that to have the disorder, you must inherit two defective genes&mdash;one from each parent. The other is in control. To have the condition, only one mutant gene from either parent is required. 
&nbsp;

Malnutrition or an insufficient supply of hormones are two other risk factors for dwarfism. A hormone shortage often has no risk factors, yet it is frequently effectively addressed. In many situations, a nutritious, more nutrient-rich diet can also help treat severe malnutrition, which causes weak bones and muscles. 
&nbsp;

Dwarfism cannot be prevented as such since it&rsquo;s a genetic condition. Those who are planning to conceive should get themselves tested for any syndrome they might have. Dwarfism can be prevented with the aid of growth hormone therapies. Genetic testing of the infant right after birth can also help doctors to try therapies to increase height. 
&nbsp;
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The U.S. Food and Drug&nbsp; Administration (FDA) recently approved the first drug to improve growth in children with achondroplasia, the most common type of dwarfism<a href="#accordion">[8]</a>. According to the FDA, the newly approved drug, Voxzogo, stimulates bone growth by binding to the natriuretic peptide receptor B that reduces the activity of fibroblast growth factor receptor<a href="#accordion">[3]</a>. Overactivity of this receptor prevents normal bone growth and typically results in achondroplasia. 
&nbsp;

According to the drug&rsquo;s phase 3 study, children treated with the drug grew 1.57 centimeters per year more than those who received a placebo. The therapy also accelerated bone growth at a rate that was nearly comparable to that of children their age who were healthy. 
&nbsp;

Key Points

<ul>
	<li>Dwarfism is a medical condition characterized by a smaller-than-average stature, usually resulting from a genetic or medical condition.</li>
	<li>The term &quot;dwarfism&quot; generally applies to individuals whose adult height is less than 4 feet 10 inches (147 cm).</li>
	<li>Dwarfism (a kind of skeletal dysplasia) refers to hundreds of disorders that disrupt the formation of bone and/or cartilage and cause small stature.</li>
	<li>The terms &quot;low stature&quot; or &quot;small people&quot; are sometimes preferred over &quot;dwarf&quot;, &quot;dwarfism&quot; or &quot;midgets&quot;. As a result, it&#39;s critical to respect the preferences of those who have this disease. </li>
	<li>Dwarfism can be brought on by more than 300 different diseases. </li>
	<li>Achondroplasia is the most common kind of dwarfism. About 1 in 15,000 to 1 in 40,000 persons have the genetic disorder achondroplasia. Due to this, your limbs and legs get shorter than your head and trunk. Additionally, you can have a bigger head and a poor muscular tone.</li>
	<li>There are several probable reasons for dwarfism (skeletal dysplasia). Most cases of dwarfism are caused by a change in a person&#39;s DNA. However, there are certain forms whose causes are unknown.</li>
	<li>The child&#39;s growth will likely be evaluated by the physician, who will check for any disorders associated with dwarfism. When small limbs are observed that are out of proportion to the trunk during a prenatal ultrasound, disproportionate dwarfism may occasionally be inferred.</li>
	<li>Dwarfism cannot be prevented as such since it&rsquo;s a genetic condition. Those who are planning to conceive should get themselves tested for any syndrome they might have. </li>
	<li>Dwarfism can be prevented with the aid of growth hormone therapies. Genetic testing of the infant right after birth can also help doctors to try therapies to increase height. 
	&nbsp;</li>
</ul>
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