Achondroplasia: What is it and how do you deal with it? • The expert explains

January 12, 2024   

We see them on the street, they are significantly shorter than the rest of us, their gait is unusual, sometimes they are part of the family or friends, but we don't always understand what they really suffer from. So what is achondroplasia? Dr. Rival Segal, Director of the Child Genomics Center at the Institute of Medical Genetics at Shaare Zedek Medical Center and Medical Director of the Microchip and Cytogenetics Laboratories, explains that achondroplasia is a congenital defect in the skeletal structure that manifests itself in short stature, short limbs, and a special facial structure. The incidence of the phenomenon is one in 20,000 and is the most common congenital skeletal defect in humans. Achondroplasia is usually diagnosed immediately after birth due to a special skull structure, narrow chest, and short limbs. Final verification is done through a genetic test that provides an answer in a very short time. It is caused by a genetic change, and a damage to one copy of the gene is enough for the damage to the skeleton to develop. Only in about 20% of cases is it a change inherited from one of the parents, and in most cases it is a new genetic change in the child, not inherited from either parent. In general, the risk of a new genetic change appearing The risk increases with the father's age, but if one of the parents has achondroplasia, the risk is 50% in each pregnancy, regardless of age. Common manifestations include shortening of the arm and leg bones, especially the part closest to the body, a narrow chest and a large head circumference, while the upper body is of normal length. Due to the disproportion, people with achondroplasia have difficulty performing basic daily activities, which seem obvious to the general population. In addition, due to the structure of the skeleton, they suffer from motor developmental delays at a young age, but their IQ is normal and they can live full lives. Dr. Segal details the difficulties that the disease poses to those who deal with it: Children have a tendency to have recurrent ear infections due to the narrowness of the ear canal, obesity, bending of the legs, narrowness of the spine in the lumbar region, and possibly also pressure on the cervical spine, difficulty breathing during sleep. As a result of the special structure of the facial bones, along with enlarged tonsils and adenoids, which cause narrowing of the airways. This is manifested by loud snoring during sleep to the point of breathing interruptions during sleep, restless sleep and therefore difficulty functioning during the day. The breathing disorders may cause children to have learning difficulties or behavioral difficulties. Already in childhood, children with achondroplasia will have difficulty performing basic activities such as personal hygiene, wearing clothes, walking long distances and climbing stairs, driving and working in a work environment that is not adapted become difficult and even impossible for them. Sometimes they deal with chronic pain, which may significantly affect their quality of life. In addition, sometimes severe symptoms appear such as: spinal stenosis, sleep apnea, hydrocephalus, bowed knees, obesity. What treatments are provided? What response do they provide? What are the differences between the various treatments? We wanted to understand more. The treatments that exist today focus on providing the opportunity to achieve maximum function, while monitoring, preventing, and treating complications. The treatments are divided into daily treatments designed to diagnose complications and treat them early, and treatments designed to treat the underlying problem itself. Shortening of the limbs may greatly interfere with daily functioning, such as reaching high places, so it is important to recognize the problems and treat them, even with simple means such as a stool in the bathroom to reach the sink, lowering a table and chair, and more. In addition, there are aids used to extend the arm to reach relatively far places. Occupational clinics can adjust such aids, as well as teach children to achieve full function. It is not recommended to use growth hormone to treat the problem of short bones and short stature. There is the option of bone lengthening surgeries. In these surgeries, metal plates are inserted and the plates are lengthened using strong magnets. At the end of the treatment, another surgery is needed to remove the metal plates, and the treatment itself is not simple, not to mention the complex rehabilitation. In recent years, a new drug has been developed that helps improve the growth of children with achondroplasia. This drug accelerates growth and the formation of cartilage in the bones and improves the children's growth in length. It can be used as long as the growth plates of the bones have not closed. The drug is approved for use in the United States and Europe, and we hope that the drug will also be included in the health basket in the State of Israel, so that children with achondroplasia will be able to receive this new and promising treatment. Children and adults with achondroplasia are shorter than the general population and this is noticeable. However, these are people with a normal level of intelligence, who can fully integrate into general society and contribute to it in a variety of fields. Achondroplasia does not affect functioning in society, those who deal with the phenomenon can get married and have children and are not prevented from working and contributing in almost any field they wish. There are support groups such as the 'Bras Moram' association, and I highly recommend helping them. These groups contain up-to-date information regarding aids and practical advice regarding adapting the home and environment for optimal functioning of people dealing with the phenomenon.