Achondroplasia

Read: Turkish

Short stature(dwarfism)

 

CAN DWARFISM BE TREATED?

HOW IS THE TREATMENT PROTOCOL?

Dwarfism develops as a consequence of genetic disorders. The most common type is Achondroplasia. However,  length of the body is in normal size in children with achondroplasia, upper(arms) and lower limbs(legs)are shorter than normal. Generally, the upper part of the limb is much affected than lower part. Those children are fairly shorter than their peers and body height will end at about 110-125 cm if no treatment is applied. Various genetic disorders, diabetes, congenital heart diseases and kidney diseases may accompany with  bone defects. Therefore, paediatrics referral is vital before initiating the treatment.

The lengthening procedure is performed with the method  introduced by a Russian Orthopedician Dr. Ilizarov in 1950s. Bones can be lengthened about 8 to 10 cm in a single procedure and 35 to 40 cm lengthening may be possible through several procedures. In this method, the bones are fixated by using  circular or monolateral fixators after the bones are cut out from proper parts of the limb. During the resting period of 7 to 10 days, bones are expected to be available for lengthening. Then, 1mm limb lengthening is performed per day with the help of the components of the device and lengthening area is divided into four parts. For 1cm lengthening, 1.5 months treatment period is calculated.  The estimated treatment period for 5cm lengthening is approximately 7.5 months. However, this period may be shorter in children because there is rapid maturation on   lengthening limb. Patients or their family must be informed before the treatment that the lengthening will be performed in multiple procedures after 6 years of age. Because a maximum of 8-10 cm lengthening can be achieved in one procedure and several procedures may be required to reach the expected height. Humerus lengthening may  also be required as a seperate procedure.

WHAT ARE THE PROBLEMS OF THE TREATMENT?

However, the procedure is a promoting method, many problems may also be encountered. Both the patient and the family must be prepared to a long lasting treatment. In addition, there may be severe pain in the beginning, and inflammation may develop in bone and soft tissue regions from where the wire and screws pass, and the sufficient bone tissue may not be obtained on the lengthening limb region and skin injuries and  other frequent problems are the fractures on the lengthening bone.

The collaboration of an orthopedician with the  specialists of paediatric endocrine, physical medicine and rehabilitation  and psychiatry, will help to improve the success rate.

The main purpose of the treatment is to provide a social and work environment for those children in the society by extending their length up to 140-150 cm. The functional level must be preserved while moving to the target. The lengthening procedure must be terminated temporarily or permanently when the joint functions are at risk or the patient is in bad psychology.  One of the other important issue is to preserve the range of motion of the upper and lower joint of the lengthening bone. Therefore, physical therapy has great important. This must be discussed with the patient and the family before the operation and the patient must be encouraged for active participation to the therapy. The patient must be informed in every single step of the treatment that otherwise, the patient may have unfunctional and worse limb after the lengthening.

However, the treatment procedure is tiring both for the patient and the physician, reaching to the  targetted level in height will make both partss happy and pleased. The patients will feel comfortable to create a safer life in the society.

Prof. Dr. Cengiz Şen