Achondroplasia is a growth disorder of the bones caused due to a mutation in the fibroblast growth factor receptor 3 gene. The mutation occurs during the early development of the fetus. Sometimes the disorder is inherited from parents wherein the disease is expressed in an autosomal dominant fashion. In the case where both the genes are affected, the individual usually does not survive. The resulting condition is dwarfism where the adult gains a height only up to 4 feet 10 inches or even less. Dwarfism can be divided into two broad categories: disproportionate dwarfism and proportionate dwarfism. In disproportionate dwarfism, some body parts are smaller in size in proportion to other average or above-average sized parts of the body.

In such cases development of bones is inhibited. In proportionate dwarfism, all the body parts are smaller in size with proportion to one another. Apart from having a short stature, a person with achondroplasia has several other signs and symptoms also that prove the disease to be there in the person. In disproportionate dwarfism, the person has characteristically shortened limbs and a short torso or very short limbs and an average-sized torso. In disproportionate dwarfism, the head is quite large compared to other parts of the body. The intellectual capacity of such people is normal. Symptoms of disproportionate dwarfism include a trunk of average size, short upper arms and upper legs, short fingers, limited elbow mobility, large head with a prominent forehead and flattened bridge of the nose, bowed legs and swayed lower back.

Treatment for achondroplasia mainly includes addressing the signs and symptoms rather than completely curing the disease. Treatment methods include consultations, medications, surgery and dietary measures. Certain conditions caused due to achondroplasia are addressed by consulting separate therapist or experts. For instance, malocclusion and dental crowding due to maxillary hypoplasia can be treated by orthodontic treatment done by an orthodontist, treatment for speech problems, tonsillectomy, adenoidectomy, tracheostomy, etc are all done by specific experts like speech therapist, otolaryngologist, etc. Medications are provided for treatment of the short stature which can augment the height of the patient to some extent.

In this growth hormone injection is used to accelerate growth which is quite prominent in the first year of treatment. It is recommended to start the therapy at an age as young as 1 to 6 years. Human growth hormones like Genotropin, Humatrope, and Nutropin are used in treating short stature by stimulating skeletal muscle, organs, and linear bone growth. With growth hormones, it is also possible to stimulate erythropoietin that increases the mass of red blood cells. Surgery can also be helpful to some extent wherein especially the orthopedic problems are addressed. People with achondroplasia develop abnormalities like thoracolumbar kyphosis, craniocervical stenosis, angular deformities of lower extremities, lengthening of short extremities and spinal stenosis which are often treated by surgical procedure.

Lengthening of limbs or the upper and lower extremities are done using several procedures like using monolateral frames for lengthening of osteotomy callus, lengthening of tibia, humerus, and femur can also be done as staged procedures, neurosurgery that involves narrowing of the foramen magnum is indicated in case the patient suffers progressive head enlargement. Since obesity can be an issue in an achondroplastic patient, nutritional counseling is needed in several cases and dietary therapy must be started early.

Safety: Medium

Effectiveness: Very Low

Timeliness: Very High

Relative risk: Low

Side Effects: Medium

Time for Recovery: Very High

Price Range: Tk. 300 to Tk. 3,00,000