Dwarfism, Causes, Diagnosis, Treatment, Prevention, Complications

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Dwarfism is a disorder that causes sufferers to be below average height. Experts define dwarfism as height in adults that is not more than 147 cm. However, people with dwarfism generally only have a height of about 120 cm. 

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Dwarfism, Causes, Diagnosis, Treatment, Prevention, Complications


In addition to having below average height, people with dwarfism can also experience other physical growth abnormalities, such as crooked legs or a curved spine. However, people with dwarfism generally do not experience intellectual impairment, so they can carry out normal activities.

Causes of Dwarfism


In most cases, dwarfism is caused by a gene change or mutation. Gene mutations can occur by themselves or be inherited from one or both parents.

Based on the type, dwarfism is divided into two, namely proportional and disproportionate. Here is the explanation:

Proportional Dwarfism

In proportional dwarfism, all the limbs of the sufferer are equally small and proportional to their height. Proportional dwarfism generally occurs due to a lack of growth hormone.

Some other conditions that can cause proportional dwarfism are:

  • Turner syndrome, which is a genetic disorder that causes women to have only one X chromosome
  • Seckel's syndrome, which is a genetic disorder that causes babies to be born with low birth weight and slow growth
  • Noonan's syndrome, which is a type of genetic disorder that inhibits the growth and development of various parts of the child's body
  • Prader-Willi syndrome, a rare genetic disorder that affects a child's metabolism, adversely affecting their growth and behavior


Disproportionate Dwarfism


As the name suggests, disproportionate dwarfism is characterized by limb sizes that are disproportionate to one another. This condition is most often caused by achondroplasia, which is a genetic disorder characterized by short arms and legs, but a normal head size.

Other conditions that can cause disproportionate dwarfism include:

  • Conradi H√ľnnermann's syndrome
  • Ellis-van Creveld syndrome
  • Hypochondroplasia
  • Diastrophic dysplasia
  • Multiple epiphyseal dysplasia
  • Pseudochondroplasia
  • Mucopolysaccharide disease
  • Brittle bone disease (osteogenesis imperfecta)


Dwarfism risk factors

There are a number of factors that can increase a person's risk of developing dwarfism, namely:

  • Having one or both parents suffer from dwarfism
  • Experiencing hormone deficiency in the body
  • Suffering from malnutrition or malnutrition


Symptoms of Dwarfism


Dwarfism symptoms can vary. The following are symptoms that sufferers of dwarfism can experience based on their type:

Proportional Dwarfism

People with proportional dwarfism have short bodies and legs that look proportional, including the size of their heads. Symptoms in people with proportional dwarfism often do not appear until puberty.

In addition to the special characteristics above, someone who has proportional dwarfism can be characterized by:

  • He is below the average height for his age
  • Growth and development of the body is slower
  • Puberty and development of the sexual organs are delayed or do not occur during adolescence


Disproportionate Dwarfism

This type of dwarfism causes the sufferer's body size to be disproportionate. Although his body size is normal, his legs are very short. In addition, the size of the patient's head also looks bigger.

In addition to some of the characteristics above, disproportionate dwarfism sufferers have the following characteristics:

  • Height in patients who are adults between 90-120 cm
  • The growth rate in childhood is slower, with height being about one-third below standard
  • Head size that looks disproportionately large, with a prominent forehead and a flat top of the nose
  • The size of the upper arms and legs that are shorter than the bottom
  • Limited movement in the elbow area
  • Fingers and toes are short, with a wide gap between the middle and ring fingers


In rare cases, the following signs can also be experienced by people with disproportionate dwarfism:

  • Flat cheekbones
  • Fluid buildup in the brain (hydrocephalus)
  • Impaired vision and hearing
  • Harelip
  • Short neck
  • Spinal deformities, such as tilted or hunchbacked, which can cause nerve complaints, such as numbness
  • The shape of the chest is broad and round
  • O-shaped legs, which lead to pain in the knees and ankles
  • Genital organs that do not develop in adolescence

When to see a doctor

Symptoms of dwarfism can be seen from birth. In babies who are born in a hospital and have signs of dwarfism, the doctor will immediately examine and provide treatment.

If the symptoms of dwarfism are seen when the baby is growing up, immediately do an examination to the doctor. Early examination can diagnose the child's condition correctly so as to prevent complications.

Dwarfism diagnosis


In some cases, doctors can detect dwarfism in the fetus in the womb through an ultrasound examination of pregnancy. Meanwhile, in newborns and during development, doctors can recognize dwarfism through routine checks.

The examination is carried out by measuring the child's height and weight, as well as the head circumference of the child. The measurement results for each examination will be recorded and compared with normal growth standards.

Through this examination, the doctor can find out if the baby is experiencing growth retardation or has a disproportionate head size. To establish a diagnosis while determining the cause, the doctor can carry out several other tests, namely:

  • Scanning

The doctor can do an X-ray examination to get a clear picture of the child's skull and bones. Meanwhile, to detect abnormalities in the growth hormone-producing glands, the doctor will run an MRI of the brain.

  • Hormone test

Hormone tests aim to measure levels of growth hormone and other hormones that play an important role in the process of child development.

  • Genetic test

Genetic tests are done to find out if dwarfism is caused by a genetic disorder, such as Turner syndrome. This test can also be used to detect gene changes or mutations.

Treatment of Dwarfism


Treatment for dwarfism aims to maximize body function and patient independence in carrying out daily activities. In addition, treatment also aims to relieve complications that can arise due to dwarfism. Some of the treatment methods that can be done are:

Hormone therapy

Synthetic hormone injections are given every day to children who lack growth hormone. Injections can be given up to the age of 20, so that children reach their maximum height.

In dwarfism patients with Turner syndrome, injections of the hormone estrogen are given to stimulate puberty and growth of the sexual organs. This estrogen injection will be given until the patient reaches the age of menopause.

Operation


In people with disproportionate dwarfism, surgery is performed to improve the direction of bone growth and the shape of the spine, reduce pressure on the spinal cord, and remove excess fluid in the brain if the patient also has hydrocephalus.

Leg lengthening surgery

Leg lengthening surgery in people with dwarfism is still controversial. This is because this operation carries a risk of causing fractures and infection. Therefore, first consult with your doctor about the benefits and risks of this action.

Please note, children who suffer from dwarfism must adjust their conditions when doing their daily activities. Some steps that can be taken are:

  • Provide support to the head, neck and upper back when the child is sitting.
  • Use a special child seat when in the car to properly support the neck and back.
  • Avoid carrying your child in slings that don't support the neck and make the back arch like a C.
  • Teach and make it a habit for children to eat balanced nutritious food from an early age, in order to prevent overweight problems.
  • Pay attention if signs of complications appear in children, such as sleep apnea and ear infections.
  • Invite children to cycle or swim, but avoid risky sports, such as football or gymnastics.


Dwarfism complications


Dwarfism can lead to various complications. In patients with proportional dwarfism, complications that can occur are impaired organ function due to obstacles to its development.

Meanwhile, complications that can occur due to disproportionate dwarfism are:

  • Delay in the development of motor skills, such as crawling, sitting and walking
  • Susceptible to ear infections and hearing loss
  • Trouble breathing during sleep (sleep apnea)
  • Back pain that often recurs
  • Pinched spinal nerves, which causes pain or numbness in the legs
  • Arthritis
  • Excess body weight, which adds to the disturbance of the joints and bones
  • Teeth growing overlapping

In pregnant women who suffer from dwarfism, it is advisable to have a caesarean section during childbirth, because the size of the pelvic bones does not allow vaginal delivery.

In addition to some of the above complications, people with dwarfism generally get a bad view of the environment, especially during childhood. Children with dwarfism are prone to being ridiculed by their peers. This can make his confidence decrease.

Adults with dwarfism can also find it difficult to find work. Therefore, sufferers of this condition are advised to do counseling. In addition, family or people closest to them also need to provide positive support.

Prevention of Dwarfism


Dwarfism cannot be prevented. However, the risk of complications from dwarfism can be reduced by detecting and treating dwarfism early.

In addition, consultations and genetic examinations are also recommended if you want to plan a pregnancy, especially for people who suffer from dwarfism or have parents who suffer from dwarfism.

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