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Achondroplasia Meaning

Achondroplasia or rickets not growing. It is a genetic disorder or mutation of the FGFR3 gene, resulting in patients with disproportionate dwarfism, short limbs, abnormal facial structure. It will be about 120–130 centimeters tall when entering adulthood. and may cause complications such as obesity, spinal stenosis and cerebral congestion, etc.

At present, there is no cure and prevention. Achondroplasia Instead, doctors treat each patient’s symptoms and focus on treating complications. so that the patient can lead a normal life as much as possible.

Symptoms of Achondroplasia
Achondroplasia patients will have different symptoms The symptoms that are common in each age range are as follows:

First Birth
Dwarf, short stature, short arms and legs, especially upper arms and thighs The hands are triangular, the fingers are short, the middle and ring fingers are very wide apart. The head is larger than usual, the forehead is protruding, the nose bridge is flat, and the area around the forehead and upper jaw is undeveloped.

Muscles are less tight and joints are so weak that it affects walking and movement. have apnea cerebral congestion and spinal stenosis, which can result in spinal atrophy

Childhood and adulthood
Difficulty in bending elbows, obesity, otitis media often because the ear canal is narrow and can result in hearing loss. Anterior spinal stenosis develops or becomes more severe

Achondroplasia It usually does not affect the intellectual development of the patient. But there may be other symptoms, such as crooked or overturned teeth. Flat feet with a short and wide appearance. and development in each aspect is slower than usual The patient will begin to develop walking between the ages of 18-24 months, which is different from the general children who will be around the age of 12 months.

However, the symptoms of Achondroplasia It may be similar to the symptoms of other diseases as well. If your child has symptoms similar to those listed above. You should see your doctor for a diagnosis of Achondroplasia. may be similar to the symptoms of other diseases

Causes of Achondroplasia
Achondroplasia It is the result of a mutation in the FGFR3 gene, a gene involved in bone development and growth. and a disease caused by a dominant gene which the baby inherits the dominant gene from the parents But most patients tend to have symptoms of the disease. Achondroplasia due to the mutation of the FGFR3 gene in the patient It is not related to the genes inherited from the father or mother.

Diagnosis of Achondroplasia
The doctor may detect Achondroplasia in infants during pregnancy or after birth The doctor may see abnormalities arising from the fetal ultrasound examination. such as ventricular fibrillation or the baby’s head is abnormally large

In cases where it is suspected that the baby may have symptoms of Achondroplasia Your doctor may order a Genetic Test in the amniotic fluid sample to check for the FGFR3 gene, and will talk to your family to understand how the condition affects your baby’s body and health.

after the baby is born The doctor will take a medical history, physical exam, and X-rays to look at the length of the bones in the baby’s body. A blood test may be ordered to test for FGFR3 gene abnormalities again.

Achondroplasia Treatment
At present, it cannot be treated. Therefore, doctors will focus on treating the symptoms of the patient and preventing complications that may arise, such as:

  • spinal stenosis Your doctor may consider incisional surgery to reduce pressure on the spinal cord in that area.
  • Humpbacks may be treated with surgery to correct the position of the lower spine.
  • cerebral congestion Your doctor may drain the fluid by inserting a CSF drain from the ventricles into your abdomen.
  • Ear, eye and neck disorders due to abnormal bone development The doctor will treat the cause found in each patient, for example, if it occurs with the jaw bone. teeth may be overlapping Patients may undergo orthodontics or surgery. Some if it occurs with the bone around the ear. The ear canal may also be narrower than others, making them more prone to infection. The doctor may also prescribe a disinfectant, for example.
  • Obesity Patients should receive healthy nutrition and exercise regularly since childhood.

during treatment Achondroplasia The doctor will closely observe the patient’s condition during the first 2 years of age and assess complications for the next 1-2 years. The doctor may also periodically take X-rays to observe the position of the spine. Examine the brain and spine with an MRI machine to look for signs of spinal stenosis. and occasionally do CT scans to examine the spine

Complications of Achondroplasia
Achondroplasia patients Complications may occur along with the symptoms of the disease, such as spinal stenosis. Difficulty breathing due to narrowing of the upper airway and pressure on the area of ​​the brain involved in the control of breathing. Lung function is a problem because the ribs are small. The cervical spinal cord is pressed, or the leg is bent, etc.

Prevention of Achondroplasia
Achondroplasia It is a disease that cannot be prevented. Because it is a spontaneous gene mutation in the patient’s body. But if the father or mother is a patient with rickets that does not grow Should undergo genetic counseling or have a genetic abnormality screening before pregnancy. to detect the risk of birth defects in the baby

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