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Dwarfism may be defined as shortness of height due to genetic or medical conditions. Adult people with Dwarfism have an average height of around 4 feet to 4 feet 10 inches. Dwarfism may be due to endocrinal or non-endocrinal causes. The most common cause of Dwarfism is Achondroplasia. Dwarfism is not a disease. Dwarfism comes with various complications, but most of the complications can be treated and help to heave a better life.
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Key Terms: Dwarfism, Achondroplasia, Genetic, Growth Hormone Deficiency, Proportionate Dwarfism, Disproportionate Dwarfism.
What is Dwarfism?
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Dwarfism or short stature is a condition in which people may face growth issues. An adult having a height of less than 4’10’’ is considered to be a dwarf. But it is on average around 4 feet in general. There are various causes of this syndrome. This can happen due to both genetic & medical conditions. Most of the dwarf people are able to do everything average height people can do.
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Characteristics of Dwarfism
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Dwarfism may be characterized by various physical factors. The major characteristics are mentioned below-
- Average height is less than or equal to 4’10’’.
- The slow growth rate is not deductible by the age of 2-3 years.
- People with dwarfism have regular body properties and normal intelligence.
- Faces may appear younger than children of the same age.
- Plump body structure.
- Malformed bones and abnormal bone alignments.
- Growth of lungs is restricted and reduced pulmonary function.
Types of Dwarfism
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There are various causes of Dwarfism. And all the people with Dwarfism are stunted in terms of growth. Depending on different types it can be categorized into two main types- Proportionate Dwarfism and Disproportionate Dwarfism. There can be various reasons for Dwarfism and based on the reason the physical characteristics are determined. The types of Dwarfism is mentioned below:
Proportionate Dwarfism
When all the body parts are in proportion to each other, but smaller than the average size adult person. This Dwarfism is mostly caused by growth hormone deficiency.
Disproportionate Dwarfism: As the name suggests, the body parts are not in the same proportion. The hands and limbs are smaller than the normal person. In some conditions the trunk can be unaffected and in some cases, the head is larger than the person who is not suffering dwarfism. This Disproportionate Dwarfism is most commonly found and one of the reasons can be Achondroplasia.
Causes of Dwarfism
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Dwarfism can be caused by many genetic and medical conditions, causing various symptoms. The main causes of this disorder are mentioned below-
- The most common cause of Dwarfism is Achondroplasia. Achondroplasia accounts for 70% of total dwarfing cases. Achondroplasia is a birth defect that affects the growth of bones. In normal conditions body tissue called cartilage turns to bones to form different parts of the body. But if there is Achondroplasia disorder,cartilage does not turn to bones the way it should. This is mostly in the hands and legs.
- Shortness of the human body with proportional body parts can be caused by hormonal deficiency, it is commonly known as Growth Hormone Deficiency (GHD) which is also called Pituitary Dwarfism.
- Dwarfism can be also caused by the genetic mutation in the egg or sperm cell that happens at the start of pregnancy. There can be a possibility of obtaining genes from one or both parents. The changes are random and there is nothing that can be done by both the parents before, after, or at the time of pregnancy. In some cases the genetic mutations are not inherited from both the parents but are mutated on their own can also cause dwarfism.
- Other rare causes of Dwarfins can be Intrauterine growth retardation, Hypothyroidism, Turner Syndrome, Poor nutrition.
Also Read: Hormonal Imbalance
Diagnosis of Dwarfism
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To diagnose Dwarfism, many factors are checked. Such as- Measurements of various body parts, appearance of the patient, development of skull & skeleton, genetic tests, hormone test & family history etc. These factors are discussed below-
Measurement
Wellness checks are done to check height, weight, and head circumference. The measurements are recorded and checked if the growth of the baby is normal or abnormal. Abnormal growth is delayed growth or disproportionate large head.
Appearance
Features associated with several dwarfism disorders can be observed on facial and skeletal features. Such observation and appearance in a child may help you to go through a diagnosis.
Imaging technology
Imaging techniques such as X-rays are used to detect the abnormal growth of the skull and skeleton. This may help to indicate which disorder the child may be facing. Achondroplasia can be detected at the last stage of pregnancy with the help of ultrasound or even genetic testing. Ultrasound can be used to detect whether the hands or limbs are shorter than the average size or even if the size of the head is larger than the average size.
Genetic test
Genetic testing is one of the methods used to detect if there's any genetic disorder. Genetic testing is used to determine many genes which are related to Dwarfism disorder.
Family History
If the parents are aware of having dwarf genes in them, it can help detect dwarfism in their children. Also, the determination of short stature is based on the family members like siblings, parents or grandparents, or other close relatives.
Hormone test
Even blood test results can show the presence or deficiency of growth hormone.
Also read: Blood group test
Treatment for Dwarfism
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Dwarfism is not a disease. So, there is no proper cure for dwarfism. Most Dwarfs have the same level of intelligence as that of a normal human with average height. It leads to a healthy and active life. But the condition that causes dwarfism can lead to health complications. Treatment for these complications can help to lead a better life. Medical treatment and surgery can help to treat medical issues, which helps to lead to a better quality of life.
- Problems associated with dwarfism can be prevented or reduced when diagnosed and treated in the early stages. Surgical treatments can help to improve the direction of bone growth, stabilize the spine, placing shunts to remove excess fluid around the brain if it occurs.
- Physical therapy and a regular checkup with doctors familiar with Dwarfism will improve the quality of life.
Due to various symptoms and complications, Treatments are tailored to address problems as they occur. Problems that occur throughout life should be monitored and treated.
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Complications with Dwarfism
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Dwarfism often comes with health problems. The condition that causes dwarfism has its possible medical complications and most of these complications are treatable by doctors.
- Most common complications with disproportionate dwarfism are bowed legs, arthritis, progressive hunching of back, excess brain fluid, sleep apnea, spinal pressure at the base of the skull, Delayed motor skill development, back pain, or breathing difficulties because of swayed back, weight gain that causes back problems.
- Problems caused by proportionate dwarfism may have small or less developed organs. Girls suffering from Turner syndrome may have heart problems.
- The other problem faced by dwarfism is social recognition. Some people can treat dwarfism in different ways which may have an emotional and mental impact on people suffering from dwarfism.
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Things to remember
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- Shortness in height due to genetic or medical conditions is known as Dwarfism.
- Dwarfism is not a disease.
- The average height of Dwarfism is up to 4 feet but can grow up to 4’10’’.
- Achondroplasia is the common cause of Dwarfism. Which affects the growth of bones.
- Proportionate dwarfism is growing proportionate body parts but in smaller size compared to normal adults.
- Disproportionate dwarfism is an abnormal growth of body parts. Like shorthands and limbs and bigger trunks or bigger heads.
- Dwarfism can be caused by various causes which bring in many complications. Complications can be diagnosed and can be cured.
Sample Questions
Ques. Define Dwarfism and state its type? (2 Mark)
Ans. Dwarfism is a genetic or medical condition that reduces the growth of the human body. The people suffering from dwarfism have short stature. Usually results in average height up to or smaller than 4’10’’. There are two types of dwarfism: Proportional dwarfism and disproportionate dwarfism.
Proportionate dwarfism is when the person is smaller than average and all the body parts are proportional to each other.
Disproportionate dwarfism is the uneven distribution of body parts. In this case, the hands and limbs are smaller than the trunk, sometimes the head is bigger than the body.
Ques. What are the causes of Dwarfism? (3 Mark)
Ans. Dwarfism can be caused by many reasons. The most common causes for dwarfism are Achondroplasia and Growth Hormone deficiency (GHD).
Achondroplasia: Achondroplasia is a disproportionate type of dwarfism. It is a birth defect disorder that reduces the formation of bones from the growth tissues. Achondroplasia mostly affects the growth of hands and limbs. Around 70% of Dwarfism is caused by Achondroplasia.
Growth hormone deficiency (GHD): GHD is a proportionate type of Dwarfism. It is caused by a decrease in growth hormones. The growth of the body is stunned and the height of the body remains smaller than average.
Ques. How is Dwarfism diagnosed? Explain any two? (3 Mark)
Ans. Dwarfism is caused by various reasons and so the techniques for diagnosis vary. There are six main types of diagnosis: Measurement, Appearance, Imaging technology, Genetic testing, Family history, and a Hormone test.
Genetic testing: Genetic testing is carried out to determine whether the genes in a person are changed, evolved, or distorted to form dwarfism. If there is any dwarfism history in the family then it can become a valid reason to have a genetic test done.
Imaging Technology: X-rays and Ultrasonics are used to determine if the person is suffering from dwarfism. X-rays are taken to check if there is an abnormal growth of bones and the head. Ultrasound can be used in the last stage of pregnancy to determine if the growth of the baby is normal or to check if hands and limbs are smaller than average.
Ques. How is Dwarfism treated? (2 Mark)
Ans. Dwarfism is not a disease, so there is no cure. It is a physical condition caused due to medical or genetic conditions. There are various causes of Dwarfism and different causes being different complications. These complications are treatable and can lead to a better life.
For example, Dwarfism caused by GHD can be treated by injecting growth hormone several times a week or every day for several years. This treatment will help to increase height but would not stop dwarfism.
Other methods like surgery can help to control the directional growth of bones of hands and legs.
Ques. What Is Pituitary Dwarfism? (2 Mark)
Ans. Pituitary Dwarfism is proportionate dwarfism caused due to the reduction of growth hormone. The deficiency of Growth hormone results in stunted growth. Kids suffering from Pituitary Dwarfism have a small growth rate and because of that puberty is delayed. There can be various reasons for deficiency in growth hormone-like stress, Turner syndrome, poor nutrition.
Ques. Can Dwarfism be completely cured? (1 Mark)
Ans. There is no proper cure of Dwarfism till date. Treatments are tailored to address problems as they occur. Problems that occur throughout life should be monitored and treated.
Ques. At what age dwarfism is detected? (2 Mark)
Ans. Disproportionate dwarfism may be apparent at the birth or at early infancy. But Proportionate dwarfism may not be diagnosed at birth or infancy. It may be diagnosed in late childhood or teenage.
Ques. What is the most common type of dwarfism? (1 Mark)
Ans. The most common type of dwarfism is Achondroplasia.
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