Short stature of the adults or a restricted growth is something that is commonly known as dwarfism. This medical condition can be of two types, where both the limbs and trunk are in proportion with the short height or the limbs and trunk are not in proper proportion. Along with this, some people also exhibit a few other physical problems of dwarfism, such as a curved spine and curved limbs. But, there are usually no other problems and difficulties and people with dwarfism can live a normal life.
Dwarfism is a medical condition that exhibits an average height of 4 feet 10 inches (147 cm) or even less than that. This condition, although associated with short stature, there are around 200 different medical conditions that are referred to by this term i.e. Dwarfism.1
Types & Classification of Dwarfism
Dwarfism is a common phenomenon that can be of different types. Not all the dwarfs have the same characteristics and same physical signs of this medical condition. Given below are some types of Dwarfism.
This is the most common type of dwarfism. About 75% of people with dwarfism are seen to have Achondroplasia as a reason behind their short stature. About 1 newborn in every 15,000 to 40,000 births is seen to have this type of dwarfism. In this type of dwarfism, the patient seen to have their cartilage converted into bone.2
Spondyloepiphyseal Dysplasias (SED)
This form of dwarfism is a relatively less common phenomenon that is seen to occur in 1 in 95,000 babies. Spondyloepiphyseal Dysplasias is a type of dwarfism that exhibits a group of symptoms and conditions that appear only after a child reaches the age of 5 years to 10 years. The general condition is a shortened trunk in this form of dwarfism.3
This is the rarest type of dwarfism that is seen in about 1 in every 100,000 births. People with Diastrophic Dysplasia have mesomelic shortening that is characterized by relatively shortened forearms and calves.4
What are the Causes of Dwarfism?
Dwarfism is in most cases related to genetic disorder. A random genetic mutation associated with the mother’s egg or the father’s sperm results in dwarfism, whereas a complete genetic makeup from either parent’s genes is expected.
Dwarfism Caused by Genetic Disorder. When a baby receives one normal copy of the gene along with one mutated copy of the gene from the parents, he/she receives this disorder of dwarfism. This mutated gene or the normal gene will be passed on to the children. When the mutated gene is passed along, the children may have dwarfism and further pass on this disorder. However, if the normal gene is passed, the dwarfism will not continue in the blood.
Dwarfism Caused by Chromosomal Abnormality. Children receive the X and Y chromosome or the sex chromosome from each parent. When the baby girl receives only one fully functioning copy of the female sex chromosome and the other chromosome is partially or completely missing, it is called the Turner Syndrome. This is a prominent cause for dwarfism.
Growth Hormone Deficiency Causing Dwarfism. If a person does not have a proper secretion of the growth hormone, it is deemed as a cause for dwarfism. This disruption in the growth hormone secretion is usually associated with injury and genetic mutation.5
What are the Signs & Symptoms of Dwarfism?
The usual sign or symptom of dwarfism is of course a shortened stature. However, depending on the type of dwarfism and also on whether it is proportionate or disproportionate dwarfism, the symptoms vary to a great extent. In fact, the symptoms of different kinds of disproportionate dwarfism also vary. The symptoms of achondroplasia, generally include.
- Short upper arms and upper legs (with short arms and legs in general, along with average size trunk).
- Shortened fingers with a wide gap between ring and middle finger.
- Disproportionately large head.
- Adult height around 4 feet.
- Swayed lower back and bowed legs.
- Limited mobility at the elbows.
- On the other hand, the symptoms of spondyloepiphyseal dysplasia congenita (SEDC) include.
- Very short neck and trunk.
- Average hands and feet.
- Instability of the neck bone.
- Slightly flattened cheekbones.
- Problems with joint movement – arthritis.
- Hip deformities.
- Broad and rounded chest.
- Twisted feet.
- Hunching curve in upper spine.
- Those, who have proportionate dwarfism, exhibit signs and symptoms such as.
- A slower than normal growth rate.
- A very low height on standard paediatric growth charts.
- Absent or delayed sexual development.6
What is the Life Expectancy of Dwarfism?
Dwarfism is not a life threatening condition and hence, patients with this medical condition can usually live a normal life span. People with dwarfism can live independently and live a healthy life. The intelligence levels in dwarfism are also like other normal people. In some cases, where dwarfism is associated with some central nervous system disorders like hydrocephalus, the intelligence level of the individual may be affected. The usual life span for people with dwarfism is generally less than 10 years than normal people. People with dwarfism can usually live a normal life without any serious complications. In very rare cases, children, who are born with Homozygous Achondroplasia, either die soon after birth or are stillborn. This is because, Homozygous Achondroplasia is associated with rib-cage malformation and deformity that causes severe respiratory distress. Moreover, many of them suffer from hypotonia, which is a lack of muscle mass. This is a prominent reason why people with this type of dwarfism often face social barriers, discrimination and stereotypes.7
Diagnosis of Dwarfism
This genetic disorder or dwarfism can easily be diagnosed by the appearance of the individual. The paediatrician will measure the growth of the baby as per the growth chart and notice if there is any kind of delayed growth and any abnormal development of the head or other bodily growths. To determine the skeletal abnormalities, x-rays and to check the abnormalities of the pituitary gland or hypothalamus, MRI or magnetic resonance imaging scan is done.8
Dwarfism. Coping and Management
Dwarfism is a medical condition that is caused mostly by genetic disorder. Hence, there is no treatment or cure for dwarfism. However, if the cause of dwarfism or restricted growth in children is growth hormone secretion disorder, injections can sometimes provide useful support.
Despite this involuntary cause of the disorder, people with dwarfism, often have to face social stigma, barriers and negative stereotypes. To cope with these, they need support and acceptance in friends circle and family. People with dwarfism must be encouraged in living a normal life. There are various social groups that provide a communal feel to these people that help them to understand that they are not alone. However, the first thing that must be provided to them along with this mental support, is a domestic setup that will help them to live freely and independently without the support and help of others in going to bed, turning on switches etc. How to cope with bullying and how to respond to insensitive questions, is what people with dwarfism can be taught well by skilled therapists and professionals.9