Skeletal dysplasia is the medical term for what we would normally refer to as ‘dwarfism’. This condition is a result of birth defects that occur due to genetic mutations before birth. Read this article to find out more about this condition.
If you carefully look at the term ‘Skeletal Dysplasia’, it has the term ‘skeletan’ in it. The term itself means abnormal skeletal growth. The term dysplasia is derived from a Latin word which translates into ‘bad growth’. Skeletal dysplasia is actually a combination of over 300 congenital abnormalities that affect the bones, connective tissues, and the cartilages of a baby.
This results in the growth of an abnormal physical structure with short limbs and large skull, along with various other abnormalities in the size and shape of the overall skeletal structure. Depending upon the condition of the individual, some of these abnormalities can also prove to be life-threatening for some individuals. Children suffering from this condition need extra care and medical attention due to their abnormal structure and growth, and therefore should be brought up with immense caution and care as compared to others.
Symptoms of Skeletal Dysplasia
Usually skeletal dysplasia is diagnosed even before the baby is born. Most of the time, the doctors, through various tests and examinations can verify this condition. However, if the doctor fails to do so, the abnormal skeletal appearance and growth in the baby can definitely help diagnose the prevalence of the condition. Some abnormalities include:
- Pear shaped chest
- Large skulls and short limbs including arms, trunk, and legs
- Abnormalities in the fingers or hands and feet. An example for the same would be having extra fingers
- Slow growth and development leading to various physical and mental forms of retardation
- Abnormal growth of ears, eyes, and mouth
- Some cases may also consist of cleft palate, congenital cataract, and brain malformations.
Causes of Skeletal Dysplasia
The main causes are various genetic abnormalities that occur in a baby before its birth. If there is a family history associated with the same, then there are chances that it will continue to run in the family. The X-linked recessive disorders are also known to be responsible for this condition among males. However, if the cause of this condition is linked with autosomal recessive disorder, then it is known to affect both males and females in an equal manner. Although, a point to be noted is that there are many cases of skeletal dysplasia that occur even without any traces of this condition in the family.
Skeletal Dysplasia Diagnosis
As mentioned earlier, most of the cases of skeletal dysplasia are diagnosed before birth through prenatal check ups and examinations. An ultrasound helps the doctor assess the growth and structure of the fetus, an abnormality which can be an indication of this condition. Some cases of this condition are extremely lethal and result in the death of the fetus while in the uterus.
After the birth, if the appearance of the baby seems to be abnormal with the presence of the aforementioned signs and symptoms, then an x-ray is a very effective way to examine and evaluate the skeletal structure of the baby. The x-ray report would indicate abnormalities like
- Small shoulder blades
- Long bones which are dumbbell shaped
- Abnormal pelvis and ribs
- Bowing of the limbs
- Abnormal growth in the centers of the long bones
Other tests like the CT scan and the MRI are used to detect further abnormalities in the brain, spine and pelvis. As already mentioned, because skeletal dysplasia is a combination of various congenital abnormalities, a chromosome test is also done to determine the type of abnormalities present in the individual case.
Treatment of Skeletal Dysplasia
Statistics reveal that every one in 4000-5000 babies born in the United States of America, have some abnormality linked to skeletal dysplasia. Each and every case needs unique care and attention. The treatment starts from the birth itself and continues till adulthood.
There is a constant need to monitor the height, weight and head circumference of these patients as abnormality in all these areas can lead to additional complications like compressions in the spinal cord, waddling gait, sleep apnea and instability of the joint. Surgical treatment options are taken into consideration to correct these abnormalities. Many a time, there is constant need for surgeries over a period of time to make sure that these patients live with as much normalcy as possible.
Though skeletal dysplasia or dwarfism, is a condition that needs prolonged treatment and care, it is not always lethal. In fact, most of the people under proper care and treatment have a normal life expectancy as compared to others. However, it varies from person to person, and the type of skeletal dysplasia that one is suffering from, to determine the actual prognosis.