It is a genetic disease which is caused due to the lack of growth of the trunk i.e. abdomen and chest remains in abnormal proportion with the legs due to lack of production of hormones in the human body. It’s a noticeable condition. This type of restricted growth is known as Proportionate short stature. Another form of this type of disease will affect the growth of the joints and bones. Some of the limbs remain shorter from other limbs. This condition is known as Disproportionate short stature. As per the survey conducted, patients suffering from Disproportionate short stature have height ranging from 107 cm to 137 cm and normal level of intelligence. Other parts of body can also get affected as an outcome of this condition.
Symptoms
Symptoms vary from one person to another. In some cases, these symptoms can be quite severe. An increase in the curvature of the lower part of the spine with very flexible or loose joints, compression of the spinal cord as well as a nerve root which leads to the numbness in the hips or knees making it difficult for a person to move around, are the common symptoms. Hip and joints also get affected which makes it difficult for a person to move around. This type of disease is known as Osteoarthritis. Some people suffering from Sleep apnoea may get disturbed sleeps due to the irregular breathing at the night and excessive sleepiness during the day. Due to this disease, patients are unable to pick or carry any heavy objects. It has been seen that the spine does not develop properly as a result of these conditions.
Causes
It is a genetic disease. Some people’s parents are short or the growth gets delayed due to lack of production of enough growth hormones. Men as well as women get affected with this disease equally. Genetic disorders passed to women leads in restricted growth. In medical terms, it is known as Turner Syndrome. Growth of hormone slows down due to lungs, hearts, and kidneys getting affected with the chronic illness. The disproportionate short stature is also an inherited disease. This disease can also affect a child at the time of birth. This disease will cause the bone to not develop properly leading to restricted growth of the person. Shortage of certain enzymes in human body also may lead to mental as well as physical problems.
Diagnosis
When there are signs of slow growth in an individual, the diagnosis needs to be done to get to the real cause. In case of genetic disorder, full history of the family also gets examined. Based on the result of diagnosis, certain tests are conducted on the patient too. Prenatal diagnosis is suggested at the time of pregnancy to check the genetic history and any previous syndromes. Blood test as well as urine test is conducted to check the enzyme deficiency disorders. To check any kind of abnormalities in bones, X-ray may also be conducted by the doctor.
Treatment
Based on diagnosis and test results, doctors would prescribe the correct treatment to the patient. They will use some special techniques so that the enzyme deficiency gets filled up which would help in the proper build-up of the bones as well as muscles. Hormone treatment is also suggested to the person who is suffering from the lack of production of hormones in the human body. Some hormones may also be injected into the person so that proper growth of the hormones can be initiated. Usually, this treatment is given for around five years of age to stimulate proper growth of the child. In some cases, surgery may also be done to get the bones in proper shape.