Dwarfism

Dwarfism

Dwarfism is a disorder that causes the height of the sufferer to be below average height. Experts define dwarfism as an adult height of no more than 147 cm. However, dwarfism sufferers generally only have a height of around 120 cm.

In addition to having below average height, sufferers of dwarfism can also experience other physical growth abnormalities, such as bent legs or a curved spine. However, dwarfism sufferers generally do not suffer from intellectual disorders, so they can carry out activities normally.

Causes of Dwarfism

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

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

Proportional dwarfism

In proportional dwarfism, all 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 syndrome, which is a genetic disorder that causes babies to be born with low body weight and slow growth
  • Noonan 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 , which is a rare genetic abnormality that affects a child's metabolism so that it has a negative impact on growth and behavior

Disproportional dwarfism

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

Other conditions that can cause disproportionate dwarfism include:

  • Conradi Hünnermann syndrome
  • Ellis-van Creveld syndrome
  • Hypochondroplasia
  • Dystrophic dysplasia
  • Multiple epiphyseal dysplasia
  • Pseudoachondroplasia
  • Mucopolysaccharide disease
  • Brittle bone disease ( osteogenesis imperfecta )

Risk factors for dwarfism

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

  • Having one or both parents suffering from dwarfism
  • Experiencing a lack of hormones in the body
  • Suffering from malnutrition or malnutrition

Symptoms of Dwarfism

Symptoms of dwarfism can vary. The following are the symptoms that can be experienced by dwarfism sufferers based on the type:

Proportional dwarfism

Patients with proportional dwarfism have short body and leg sizes that look proportional, including the size of their heads. Symptoms in patients with proportional dwarfism are often not seen until puberty.

In addition to the specific characteristics above, a person with proportional dwarfism can be characterized by:

  • Height is below average for children of his age
  • Growth and development of the body is slower
  • Puberty and sexual organ development that is delayed or does not occur during adolescence

Disproportional 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 sufferer's head also looks bigger.

In addition to some of the above characteristics, patients with proportional dwarfism have the following characteristics:

  • Body height in adult sufferers is between 90-120 cm
  • Growth rates in childhood are slower, with height about a third below standard
  • The size of the head appears large and disproportionate, with a prominent forehead and a flat top of the nose
  • Arm and leg measurements that are shorter than the bottom
  • Limited movement in the elbow area
  • Short fingers and toes, with a wide gap between the middle and ring fingers

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

  • Flat cheekbones
  • Accumulation of fluid in the brain ( hydrocephalus )
  • Vision and hearing impairment
  • Cleft lip
  • Short neck
  • Abnormalities in the shape of the spine, such as tilting or bending, which can cause nerve complaints, such as numbness
  • Wide and round chest shape
  • O-shaped legs, which trigger pain in the knees and ankles
  • Genital organs that do not develop in adolescence

When should you go to the 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 perform an examination and provide treatment.

If the symptoms of dwarfism are visible when the baby has grown up, immediately check with a doctor. Early examination can accurately diagnose the child's condition so that complications can be prevented.

Diagnosis of Dwarfism

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

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

Through the examination, the doctor can find out when the baby has growth retardation or has a disproportionate head size. To establish the diagnosis and determine the cause, the doctor can carry out several other examinations, namely:

  • Scanning
    Doctors can perform an X-ray examination to get a clear picture of the child's skull and bones. As for detecting abnormalities in the growth hormone-producing glands, the doctor will conduct an MRI of the brain.
  • Hormone
    test Hormone test aims to measure the level of growth hormone and other hormones that play an important role in the growth process of children.
  • Genetic
    tests Genetic tests are done to find out if dwarfism is caused by a genetic abnormality, such as Turner syndrome. This test can also be used to detect gene changes or mutations.

Treatment of Dwarfism

Dwarfism treatment aims to maximize body function and the patient's independence in performing daily activities. In addition, the treatment also aims to alleviate the complications that can arise as a result of dwarfism. Some treatment methods that can be done are:

Hormone therapy

Synthetic hormone injections are given daily to children who lack growth hormone. Injections can be given up to the age of 20, so that the child reaches maximum height.

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

Operation

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

Leg lengthening surgery

Leg lengthening surgery in patients with dwarfism is still controversial. This is because this operation risks causing broken bones and infection. Therefore, first consult with a doctor about the benefits and risks of this action.

It should be noted that children suffering from dwarfism must adjust their condition during daily activities. Some steps that can be taken are:

  • Give 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 the child with a carrier that does not support the neck and makes the back curved like the letter C.
  • Teach and accustom children to consume balanced nutritious food from an early age, in order to prevent the problem of overweight.
  • Pay attention when signs of complications appear in children, such as sleep apnea and ear infections.
  • Encourage your child to go cycling or swimming, but avoid risky sports, such as football or gymnastics.

Complications of Dwarfism

Dwarfism can result in various complications. In patients with proportional dwarfism, the complication that can occur is the disruption of the function of the body's organs due to obstacles in their 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 impairment
  • Breathing disorders during sleep (sleep apnea)
  • Back pain that often recurs
  • A pinched spinal nerve , which causes pain or numbness in the legs
  • Arthritis
  • Being overweight, which adds to the disorders of the joints and bones
  • Teeth grow in a row

In pregnant women who suffer from dwarfism, it is recommended to undergo a caesarean section during childbirth, because the size of the pelvis does not allow for vaginal delivery.

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

Adult dwarfism sufferers can also find it difficult to get a job. Therefore, sufferers of this condition are recommended to do counseling. In addition, the family or close people also need to provide positive support.

Prevention of Dwarfism

Dwarfism cannot be prevented. However, the risk of complications due to dwarfism can be reduced by detecting and dealing with dwarfism early.

In addition, genetic consultation and examination 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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