Dwarfism presents short stature in individuals as the result of either medical problems or genetic. It is defined by people who are on average 4 feet 10 inches or under although the average height appears to be around 4 feet. The two main categories of dwarfism include the disproportionate dwarfism when the body size is disproportionate to other body parts and proportionate dwarfism when the body parts are proportionately small in relationship to the height of the small stature.
Disproportionate dwarfism
Disproportionate dwarfism presents average sized trunk with very short limbs or very short trunk and large limbs. The most common cause of disproportionate dwarfism includes the faulty gene that affects the normal development of the bones and the cartilage resulting in the restricted growth. Although most of the parents of these cases are average in height, the mutation in the gene occurs by chance. One of the common causes of disproportionate short stature is a condition known as achondroplasia presenting shortened upper limbs with a relatively long trunk. In addition, the cases of achondroplasia can present bowed legs, limited mobility at the elbows, short fingers, and a large head with an average height of 4 feet. Another cause of disproportionate dwarfism is the rare condition known as spondyloepiphyseal dysplasia congenita. Some of the signs of this condition include a short neck, broad rounded chest, curvature of the upper spine, problems with the vision and hearing, hip deformities, shortened limbs, a very short trunk, twisted foot and an average height of 3 feet to just over 4 feet. Other conditions that can also cause disproportionate dwarfism include conradi syndrome, mucopolysaccharide disease, multiple epiphyseal dysplasia and ellis-van creveld syndrome.
Proportionate short stature
This can develop as the result of medical conditions occurring in early childhood or at the birth because of problems with the pituitary gland. This condition affects the overall growth of the individual’s development. Although all the body parts appear small, they are all proportionate to the individual’s height. The less common cause includes the inability of the body to produce sufficient growth hormone. These affected individuals may present poor development problems of one or several of their body system. Some of the other possible causes of this proportionate short stature include steroid treatment for conditions such as asthma, malnutrition, turner syndrome, down syndrome and noonan syndrome.
Diagnosis
To determine if the child has a dwarfism related disorder, the individual will be evaluated based on the symptoms, the height measurement and various diagnostic tests. Growth hormone deficiency is assessed by the growth hormone stimulation tests. Additional tests can include a blood test to determine abnormalities of the liver, kidney or bone problems and urine tests to indicate the presence of enzyme deficiency disorder. Imaging tests such as x-rays, MRI scans can also seek to identify abnormalities of the pituitary gland.
Treatment
The treatment of complications that develop from this condition involves the surgical intervention to correct the shape of the spine, placing shunts to remove the accumulated fluid around the brain and to reduce the pressure on the spinal cord. Depending on the cause of the condition, the growth hormone treatment may be optional to increase the height which is an injection that is administered for several years till the individual reaches the average adult height of their family. These cases require to be monitored in order to effectively treat the complications that can develop such as ear infections and spinal stenosis.
References
http://www.mayoclinic.org/diseases-conditions/dwarfism/basics/treatment/con-20032297
http://www.nhs.uk/Conditions/Restricted-growth/Pages/Treatment.aspx
http://kidshealth.org/en/parents/dwarfism.html