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Dwarfism

Definition:

Dwarfism is short stature that results from a genetic or medical condition. Dwarfism is generally defined as an adult height of 4 feet 10 inches (147 centimeters) or less.

The average adult height among people with dwarfism is 4 feet (122 cm). [1]

Overview

Dwarfism (or conditions of short stature) refers to a group of conditions characterised by shorter than normal skeletal growth. This shortness can be manifested in the arms and legs or trunk.

The term “short stature” is often preferred over “dwarfism” or “dwarf.”

The term “little person” or “little people” is often used, too.

One of the largest advocacy groups for people with dwarfism is the Little People of America (LPA). [4]

Dwarfism has many different causes. Several of the causes of dwarfism can lead to other health problems, such as osteoarthritis. [3]

Sign & Symptoms

Though there are many different causes of dwarfism, there are two main types of the condition: proportionate and disproportionate.

Disproportionate dwarfism:

Most people with dwarfism have disorders that cause disproportionately short stature.

Usually, this means that a person has an average-size trunk and very short limbs, but some people may have a very short trunk and shortened (but disproportionately large) limbs.

In these disorders, the head is disproportionately large compared with the body.

Almost all people with disproportionate dwarfism have normal intellectual capacities.

Rare exceptions are usually the result of a secondary factor, such as excess fluid around the brain (hydrocephalus).

The most common cause of dwarfism is a disorder called achondroplasia, which causes disproportionately short stature.

This disorder usually results in the following i.e.:

  • An average-size trunk
  • Short arms and legs, with particularly short upper arms also upper legs
  • Short fingers, often with a wide separation between the middle also ring fingers
  • Besides this, Limited mobility at the elbows
  • A disproportionately large head, with a prominent forehead also a flattened bridge of the nose
  • Progressive development of bowed legs
  • Progressive development of swayed lower back
  • Lastly, An adult height around 4 feet (122 cm)

Another cause of disproportionate dwarfism is a rare disorder called spondyloepiphyseal dysplasia congenita (in other words, SEDC).

Signs may i.e.:

  • A very short trunk
  • A short neck
  • Shortened arms also legs
  • Average-size hands also feet
  • Broad, rounded chest
  • Slightly flattened cheekbones
  • Opening in the roof of the mouth (in other words, cleft palate)
  • Hip deformities that result in thigh bones turning inward
  • A foot that’s either twisted or out of shape
  • Instability of the neck bones
  • Progressive hunching curvature of the upper spine
  • Progressive development of swayed lower back
  • Vision also hearing problems
  • Arthritis and problems with joint movement
  • Adult height ranging from 3 feet (91 cm) to just over 4 feet (122 cm)

Proportionate dwarfism:

Proportionate dwarfism results from medical conditions present at birth or appearing in early childhood that limit overall growth and development.

So the head, trunk and limbs are all small, but they’re proportionate to each other.

Because these disorders affect overall growth, many of them result in poor development of one or more body systems.

Growth hormone deficiency is a relatively common cause of proportionate dwarfism.

It occurs when the pituitary gland fails to produce an adequate supply of growth hormone, which is essential for normal childhood growth.

Signs include:

  • Height below the third percentile on standard pediatric growth charts
  • Growth rate slower than expected for age
  • Delayed or no sexual development during the teen years [1]

Causes

Researchers believe there are more than 300 conditions that cause dwarfism. Most causes are genetic.

The most common causes include:

Achondroplasia:

  • Though achondroplasia is a genetic condition, four out of five people who have it also have two parents who average size.
  • If you have achondroplasia, you have one mutated gene associated with the condition and one unaffected version of that gene. This is the most common cause of dwarfism.

Turner syndrome:

  • This condition affects only females.
  • Instead of inheriting two fully functioning X chromosomes from your parents, you inherit one X chromosome and are missing a second, or at least part of a second, X chromosome.
  • Males, by comparison, have an X chromosome and a Y chromosome.

Growth hormone deficiency:

  • The reasons for growth hormone deficiency aren’t always clear.
  • Sometimes it’s tie to a genetic mutation.
  • In many cases, the reasons for growth hormone deficiency never diagnose.

Hypothyroidism:

  • An underactive thyroid, especially if it develops at a young age, can lead to many health problems, including limited growth.
  • Other complications include low energy, cognitive problems, and puffy facial features.
  • A newborn’s thyroid health should check as a matter of routine screenings.
  • If your baby didn’t have their thyroid checked, discuss it with your pediatrician.

Intrauterine growth retardation:

  • This condition develops while the baby is still in the mother’s womb.
  • The pregnancy may go to full term, but the baby is usually much smaller than average.
  • The result is typically proportional dwarfism.

Genetics and other risk factors:

  • Dwarfism is usually the result of a genetic mutation.
  • But having a gene or genes responsible for dwarfism can occur in a couple of ways.
  • In some cases, it can happen spontaneously.
  • You may not born with mutated genes inherited from a parent.
  • One is recessive, which means you inherit two mutated genes (one from each parent) to have the condition.
  • The other is dominant. You only need one mutated gene from either parent to have the disorder.
  • Serious malnutrition, which leads to weak bones and muscles, can also overcome in many cases with a healthy, more nutrient-rich diet. [4]

Diagnosis

In some cases, disproportionate dwarfism may be suspected during a prenatal ultrasound if very short limbs disproportionate to the trunk are noted.

Diagnostic tests may include:

Measurement:
  •  A regular part of a well-baby medical exam is the measurement of height, weight and head circumference.
  • This is important for identifying abnormal growth, such as delayed growth or a disproportionately large head.
  • If any trends in these charts are a concern, your pediatrician may make more-frequent measurements.
Appearance:
  • Many distinct facial and skeletal features associate with each of several dwarfism disorders.
  • Your child’s appearance also may help your pediatrician to make a diagnosis.
Imaging technology:
  • Your doctor may order imaging studies, such as X-rays, because certain abnormalities of the skull and skeleton can indicate which disorder your child may have.
  • Various imaging devices may also reveal delayed maturation of bones, as is the case in growth hormone deficiency.
  • A magnetic resonance imaging (MRI) scan may reveal abnormalities of the pituitary gland or hypothalamus, both of which play a role in hormone function.
Genetic tests:
  • Your doctor is likely to suggest a test only to distinguish among possible diagnoses when other evidence is unclear or as a part of further family planning.
  • If your pediatrician believes your daughter may have Turner syndrome, then a special lab test may be done that assesses the X chromosomes extracted from blood cells.
Family history:
  • Generally, Pediatrician may take a history of stature in siblings, parents, grandparents or other relatives to help determine whether the average range of height in your family includes short stature.
Hormone tests:
  • In brief, Your doctor may order tests that assess levels of growth hormone or other hormones that are critical for childhood growth and development.

Treatment

Dwarfism, regardless of the cause, can’t be cured or “corrected.”

However, there are certain therapies that may help reduce the risk of complications.

Hormone therapy:

  • For people with growth hormone deficiency, injections of synthetic human growth hormone may be helpful.
  • Children receiving this treatment don’t always reach an average height, but they can get close.
  • The treatment includes daily injections when a child is young, though injections may continue into a person’s 20s.
  • This may be done if there are concerns about full adult maturation and sufficient muscle and fat.
  • Girls with Turner’s syndrome need estrogen therapy also other hormones to help trigger puberty and appropriate female development.
  • Estrogen therapy may be necessary until a woman reaches the age of menopause.

Surgical options:

For others with dwarfism, surgical treatments may be necessary and helpful to living a longer, healthier life.

Surgical treatments include those that can help i.e.:

  • Insertion of a shunt to drain excess fluid also relieve pressure on the brain.
  • Moreover, A tracheotomy to improve breathing through small airways.
  • Corrective surgeries for deformities e.g. cleft palate, club foot, or bowed legs.
  • Surgery to remove either tonsils or adenoids to improve breathing problems related to large tonsils, small facial structures, and/or a small chest.
  • Surgery to widen the spinal canal (the opening through which the spinal cord passes) to relieve spinal cord compression. [2]

Physical therapy and orthotics:

  • Physical therapy and orthotics are non invasive solutions to some complications of dwarfism.
  • Furthermore, It is often prescribed after limb or back surgery to help you regain or improve your range of motion and strength.
  • This may also be advised if dwarfism is affecting the way you walk or is causing you pain that doesn’t require surgery.
  • Besides this, Orthotics are custom-made devices that fit into your shoes to help improve your foot health and function. [4]
  • Nutritional guidance also exercise to help prevent obesity, which can aggravate skeletal problems. [2]
  • Lastly, If dwarfism is affecting your balance, how you walk, or other aspects of foot function, talk with a podiatrist about how orthotics may help you. [4]

Homeopathic Treatment

Homeopathic treatment for dwarfism is natural, safe and without any side-effects, and one can enjoy immense relief from these frustrating symptoms.

It is a patient-oriented science and medicines are prescribed on the characteristics of the individual rather than just the symptoms of the disease.

Some useful homeopathic remedies are i.e.:

  • Baryta Carbonica
  • Calcarea Phosphorica
  • Medorrhinum
  • Silicea
  • Sulphur
  • Syphilinum

FAQs

Frequently Asked Questions

What is Dwarfism?

Dwarfism is short stature that results from a genetic or medical condition. Dwarfism is generally defined as an adult height of 4 feet 10 inches or less.

Homeopathic Medicines used by Homeopathic Doctors in treatment of Dwarfism?

  • Baryta Carbonica
  • Calcarea Phosphorica
  • Medorrhinum
  • Silicea
  • Sulphur
  • Syphilinum

What are the types of Dwarfism?

  • Disproportionate dwarfism
  • Proportionate dwarfism

What causes Dwarfism?

  • Achondroplasia
  • Turner syndrome
  • Growth hormone deficiency
  • Hypothyroidism
  • Intrauterine growth retardation
  • Genetics

References:

  1. https://www.mayoclinic.org/diseases-conditions/dwarfism/symptoms-causes/syc-20371969
  2. https://www.webmd.com/children/dwarfism-causes-treatments#1
  3. https://www.medicalnewstoday.com/articles/320286.php
  4. https://www.healthline.com/health/dwarfism#risk-factors