Causes and risk factors
It is a genetic disorder. It can be inherited from parents. Dwarfism can occur as a result of Growth hormone deficiency. It is also a feature of Turners syndrome, spodyloepiphyseal dysplasia congenita [SEDC], achondroplasia.
Clinical presentation
Short stature is the presenting feature of dwarfism. Along with it, the disease has two types – proportionate and disproportionate dwarfism. Proportionate dwarfism occurs as result of problems during birth or in early childhood. The head, trunk, limbs are small but proportionate with each other. Growth hormone deficiency is common cause. There is short stature, retarded growth, hampered sexual development. Disproportionate dwarfism has features such as normal trunk but shortened limbs or disproportionately short trunk and limbs. Head is large in both these cases. Most common form of dwarfism is called achondroplasia. It presents as follows – short trunk and limbs, short fingers with wide separation between middle and ring finger, limited movements of elbow, large head with flattened nose, bowed legs. Another cause of Disproportionate dwarfism is spodyloepiphyseal dysplasia congenita [SEDC]. It consists of following features – short neck, short limbs, broad chest, flattened cheek bones, cleft palate, hip and spine deformities, difficulties in vision and hearing, arthritis, joint deformities.
Investigation
Medical history by the patient and Clinical examination by the doctor helps in diagnosis Appearance of the patient is important diagnostic feature. Imaging studies such as X-ray, MRI is useful for further evaluation. Hormone test is recommended. Genetic testing is advised.
Treatment
Treatment involves correction of deformities. In dwarfism, supportive care is given to prevent complications. Surgical treatment consists of correction and stabilisation of the bones and joints. Inserting metal staples into the ends of long bones where growth occurs is done. Limb lengthening, hormonal therapy will also help in managing the disease.
Other Modes of treatment
The other modes of treatment can also be effective in treating dwarfism. Homoeopathy is a science which deals with individualization considers a person in a holistic way. This science can be helpful in combating the symptoms. Similarly the ayurvedic system of medicine which uses herbal medicines and synthetic derivates are also found to be effective in treating dwarfism.
