During pregnancy, doctors may find out that a child has achondroplasia, a disorder characterized by short bones and an abnormally large head. This condition is caused by a genetic mutation. It occurs when one or more genes in the FGFR3 receptor are mutated. These receptors are responsible for controlling the growth of bones and cartilage during fetal development. They send signals to the body to allow the chondrocytes to line up to make new bones.
Most people with achondroplasia have short stature. They are also susceptible to obesity, which can lead to joint and back problems. In addition, people with the disorder can have hearing and breathing problems. Children and adults may also develop ear infections, which can lead to conductive hearing loss.
Children with achondroplasia may develop a kyphotic curve in their upper back. These curves are often corrected as the child grows. However, children who do not outgrow the curve may need surgery to correct it. In addition, they may need to have their tonsils and adenoids removed to improve their breathing.
Children with achondroplasia often have delayed motor skills, crowded teeth, and less muscle tone than normal. They may also have delays in their growth, as their bones grow slower than normal. This can result in physical challenges, as well as social challenges. There are also many complications associated with achondroplasia, including a decreased life expectancy.
Achondroplasia can be inherited from both parents. Typically, a child with achondroplasia will have one parent with the disorder and one parent without the disorder. However, in sporadic cases, the disorder is passed from an adult to a child. The risk of achondroplasia is about one in every 15,000 to 40,000 babies. The disorder is most likely to occur in the late stages of pregnancy. It may be detected during a prenatal ultrasound. If the gene is found to be defective, blood tests may be ordered to confirm the diagnosis.
Symptoms of achondroplasia may include a dome-like skull, short arms and legs, and a curved back. In adults, achondroplasia can lead to a permanent lower back sway and a curved spine. In addition, people with the disorder may have a limited range of motion in their elbows. They may also experience tingling in their legs due to nerve compression. People with the disorder may also have chronic otitis media, which is caused by a small portion of the skull.
Children with achondroplasia have a high risk of developing spinal cord compression, which can result in problems with walking, breathing, and other activities. Children with the disorder may need to have surgery to correct their spinal stenosis as young adults. In addition, the disorder may lead to a buildup of fluid in the brain. Hydrocephalus is one of the more serious complications of achondroplasia. In addition, children may have hearing and neurological problems.
Because achondroplasia is caused by a genetic mutation, there is no known cure. However, treatment can help reduce symptoms and improve daily tasks. Some doctors use growth hormones or drugs to increase bone growth. In addition, new research offers hope for better treatments.