Dwarfism - Symptoms, causes and treatment

Dwarfism is a disorder that causes the sufferer's height to be below average. Experts define dwarfism as an adult's height of no more than 147 cm. But generally, people with dwarfism only have a height of 120 cm.

Symptoms of Dwarfism

People with dwarfism have a disproportionate body size, where the body size is classified as normal, but the legs are very short. In addition, the size of the patient's head also looks bigger.

In rarer cases, people with dwarfism can also have a short body and legs, so it looks proportional, including the size of the head.

Symptoms of dwarfism include:

  • Height in adult patients between 90-120 cm.
  • Growth rates in childhood are slower, with height about a third below standard.
  • Head size that looks large and disproportionately large, with a prominent forehead and flat top of the nose.
  • Flat cheekbones.
  • Accumulation of fluid in the brain (hydrocephalus).
  • Visual and hearing impairment.
  • Harelip.
  • Short neck.
  • Spinal deformities, such as tilting or slouching, which can result in nerve complaints, such as numbness.
  • The chest shape is broad and round.
  • The size of the upper arms and legs 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.
  • The legs are O-shaped, which triggers pain in the knees and ankles.
  • Sex organs that do not develop in adolescence.

Cause of Dwarfism

Based on the underlying cause, dwarfism is divided into two, namely:

Proportional Dwarfism.

In proportional dwarfism, all members of the patient's body are the same size and proportional to their height. Proportional dwarfism is usually caused by a lack of growth hormone. Other factors that can cause this condition are:

  • Turner syndrome, which is a gene disorder in women that can inhibit growth.
  • Diseases that affect the lungs, heart, or kidneys.
  • Treatment of arthritis, which can inhibit growth hormone.

Disproportionate 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, a genetic disease characterized by the size of the arms and legs are short, but the size of the head remains normal.

Other conditions that can cause disproportionate dwarfism are:

  • Prader-Willi syndrome
  • Noonan syndrome
  • Conradi syndrome
  • Ellis-van Creveld syndrome
  • Hypochondroplasia
  • Diastrophic dysplasia
  • Multiple epiphyseal dysplasia
  • Pseudoachondroplasia
  • Disease mucopolysaccharide
  • brittle bone disease (osteogenesis imperfecta)

Dwarfism Diagnosis

In some cases, doctors can suspect that the baby in the womb has dwarfism, through a pregnancy ultrasound examination. Meanwhile, in newborns and in development, doctors can recognize dwarfism through routine examinations.

During the examination, the pediatrician will measure the child's height and weight, as well as the circumference of the child's head. The measurement results at each examination will be recorded and compared with normal growth standards. Through the examination, the doctor can tell if the baby has growth restrictions, or has a disproportionate head size.

Some other tests that can be done to diagnose dwarfism and determine the cause are:

Imaging test

Doctors can perform X-ray examinations to get a clear picture of the child's skull and bones. Then, to find out if there are abnormalities in the growth hormone-producing glands, the doctor will run an MRI of the brain.

Hormone test

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

Genetic test

Genetic testing is done to determine whether dwarfism in a patient is caused by a genetic disorder, such as Turner syndrome.

Dwarfism Treatment

Treatment is aimed at maximizing the patient's body function and independence in carrying out daily activities, as well as relieving complications that arise due to dwarfism. This is because dwarfism cannot be treated, especially if it is caused by heredity or genetic disorders. Some of the treatment methods for dwarfism are:

Hormone therapy

Synthetic hormone injections are given daily to children who are growth hormone deficient. Injections can be given until the age of 20 years, to achieve maximum height.

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


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 cord, and remove excess fluid in the brain if the patient also has hydrocephalus.

Limb Lengthening Surgery

Leg lengthening surgery in patients with dwarfism is still controversial, because of the risk of complications of fracture and infection. Therefore, talk to your doctor first about the benefits and risks of this procedure.

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

  • Support the head, neck and upper back when the child is sitting.
  • Use a special child seat when in the car, to support his neck and back properly.
  • Avoid carrying the child in a sling that doesn't support the neck and makes the back arch like a "C" shape.
  • Teach and familiarize children to eat foods with balanced nutrition from an early age, in order to prevent the problem of excess weight.
  • Watch for signs of complications in children, such as: sleep apnea and ear infections.
  • Encourage your child to cycle or swim, but avoid risky sports, such as soccer or gymnastics.

Complications of Dwarfism

A number of complications that often occur in people with dwarfism are:

  • Impaired development of motor skills, such as crawling, sitting, and walking
  • Frequent ear infections and risk of hearing loss.
  • Breathing problems during sleep (sleep apnea)
  • Recurrent back pain.
  • Pinched spinal nerves, which cause pain or numbness in the legs
  • Arthritis.
  • Excess body weight, which adds to the disorder in the joints and bones.
  • Teeth grow piled up

Pregnant women with dwarfism will be advised to undergo a cesarean section during delivery, because the size of the pelvic bone does not allow for a normal delivery.