Dwarfism

Dwarfism can be defined as a considerable defect in growth, specifically height. It is a condition based on quantity rather than quantity and exact delineation is not possible, and arbitrarily have to be established.

It has been observed that a man who suffers from this condition, his / her height does not exceed 12 cm another, 30% less than the mean normal of the respective population.

Defining dwarfism concerning the growth tendencies of the general population takes the variation of the latter into account and could. Theoretically, dwarfism can be applied to any age group rather than only to adults. It does not restrict the present review to any arbitrary limits.

Pituitary Dwarfism Definition

Also referred to as the growth hormone deficiency syndrome, pituitary dwarfism can be defined as a condition due to insufficient production of growth home in the human body. Those diagnosed with GHD syndrome are abnormally short stature with normal body proportions. The syndrome can present at birth or develop later.

Why is Dwarfism Caused?

Dwarfism can be linked to two major causes. These dwarfism causes are:

Achondroplasia:  It is a bulk genetic disorder. The most recognisable variety of dwarfism of achondroplasia, and it accounts for 70% of genetic disorder cases and produces rhizomelic short limbs, enhanced abnormal condition, and distortion of skull growth. The primary cause behind this is an autosomal chromosome dominant abnormality which is because of the presence of a faulty factor in a very person’s ordination. The condition can be fatal if a combination of achondroplasia alleles are found. It can be due to a mutation within a particular sequence FGFR3 that is an associated producing substance that regulates bone growth. In cases of genetic abnormality, the FGFR3 sequence of the genetic code is simply too aggressive, negatively impacting bone growth.

Growth Hormone Deficiency (GHD):  It is referred to a medical condition where the human body produces less amount of growth hormone (Somatotropin) which leads to stunted growth. The hormone is made of polypeptides which initiate the reproduction of cells. Kids with this disorder might grow slowly and pubescence could also be delayed by several years, or perhaps indefinitely. The deficiency of the human growth hormone has no specific cause as such.

There are various reasons for this clinical condition. These are listed below: 

• Specific genes mutation.

• Turner’s syndrome.

• Defect in the pituitary body.

• Poor nutrition.

• Even stress (causing mental dwarfism).

• Spondyloepiphyseal dysplasia (congenital).

• Diastrophic dysplasia.

• Pseudoachondroplasia.

• Hypochondroplasia.

• Primordial dwarfism.

• Turner syndrome.

• Osteogenesis imperfecta (Ol).

• Glandular disease.

The Different Types of Dwarfism

• Hypochondroplasia:  People diagnosed with this condition show a less severe form of achondroplasty and as a result, they are the tallest dwarfs.

• Achondroplasia: This is the most observed form of dwarfism. The general features of a patient diagnosed with achondroplasia is a median sized trunk, short limb and several instances of a comparatively giant head. 

• Spondyloepiphyseal Dysplasia: The common features are a disproportionate trunk with several limb and spinal irregularities.

• Diastrophic Dysplasia: This condition sometimes involves spinal deformity malformation, hand deformities, and hip and knee dislocations. In many cases, they need crutches or wheelchairs for walking.

The General Features of Dwarfism

• Adults have a general height of 147 cms.

• The slow growth rate may not be visible until the child is 2-3 years old.

• The patient has shown regular body proportions with normal IQ.

• Physical deformities of face and skull can be observed such as cleft lip or cleft palate.

• Malformed bones.

• Degenerative joint disease scoliosis or exaggerated lordosis can be observed.

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How to Diagnose Dwarfism?

Diagnostic tests for dwarfism may include:

• Measurements: A regular part of a medical exam is the measurement of height, weight and head circumference. A plot of these measurements on a chart would be taken to observe a child's current percentile ranking for each one. This is integral for identifying abnormal growth, such as delayed growth and a disproportionately large head.

• Appearance: Several facial and skeletal features are associated with each of the numerous dwarfism disorders. 

• Imaging Technology: Modern imaging studies, such as X-rays are also carried out to diagnose dwarfism. Certain abnormalities of the skull and skeleton can indicate which disorder a person may have. Various imaging instruments may reveal delayed maturation of bones, as is the case in growth hormone deficiency

• Genetic Tests: Genetic tests are carried out for many of the known causal genes of dwarfism-related disorders. However, these tests often aren't necessary to make an accurate diagnosis. If a doctor suspects that a child may have Turner syndrome, then a special lab test may be done that assesses the X chromosomes extracted from blood cells.

• Family History: A doctor 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: A doctor may order tests that assess levels of growth hormone or other hormones that are critical for childhood growth and development.

Dwarfism Statistics

More than 300 different conditions can cause dwarfism. Achondroplasia is the most common form of dwarfism. It is a genetic condition that affects about 1 in 15,000 to 1 in 40,000 people. It makes arms and legs short in comparison to your head and trunk. Dwarfism affects 1 in 25,000 individuals of all ethnic groups. It is equally common in both males and females.