Achondroplasia

Achondroplasia

Achondroplasia is a disruption of bone growth characterized by a dwarf and disproportionate body. This condition is one of the most common disorders of bone growth.

Achondroplasia

Achondroplasia sufferers have a normal size of the breastbone, but the size of the arms and limps is short, causing patients to have a dwarf body (dwarfism).

The average height of adult male Achondroplasia patients is 131 cm, while adult women are 124 cm. Even though it has different physical conditions, Achondroplasia sufferers have a normal level of intelligence such as people in general.

Causes of Achondroplasia

Achondroplasia occurred due to genetic mutations in the FGFR3 gene, which gene that produces fibroblast growth factor receptor protein 3. This protein plays an important role in the process of ossification or the process of changes in cartilage into hard bones.

Mutations in the FGFR3 gene cause protein not to function properly, thus disrupting changes in cartilage into hard bones. As a result, bones grow shorter and have abnormal shapes, especially bones in the arms and legs.

FGFR3 gene mutations in Achondroplasia sufferers can occur in two ways, namely:

Spontaneous mutations

About 80% of Achondroplasia is caused by gene mutations that are not derived from parents. This mutation occurs spontaneously and has not yet known the cause.

Mutations are led to

About 20% of Achondroplasia cases are derived from parents. If one parent suffers from Achondroplasia, the percentage of children who suffer from similar conditions can be 50%. However, if both parents suffer from Achondroplasia, the risk of children also suffer from these conditions is as follows:

  • 25% of the possibility of normal children
  • 50% of the possibilities for children have one defective gene, causing Achondroplasia
  • 25% of the possibility of children inherit two defective genes, causing fatal achondroplasia, called HomozyGous Achondroplasia

Symptoms of Achondroplasia

Since newborn, baby Achondroplasia sufferers can be recognized through their physical characteristics, such as:

  • Sleeve size, limb, and short finger
  • Bigger head size, with a prominent forehead
  • Teeth that are not parallel and put
  • Experience the abnormality of the spinal shape, can in the form of lordosis (curved forward) and kyphosis (curved back)
  • Narrow spinal canal
  • O shaped limbs
  • Short and wide legs
  • Tonus or weak muscle strength

When to go to the doctor

If there are family members who have a history of Achondroplasia, it is recommended to carry out genetic examinations before planning pregnancy to find out how much the risk of this condition is reduced to the fetus.

If you or your family members have been diagnosed with Achondroplasia, it is recommended to control the doctor regularly to prevent complications. Please note, the risk of complications in Achondroplasia patients can increase over time.

Diagnosis achondroplasia

Achondroplasia can be diagnosed since the baby, more precisely when a new baby is still in the womb. The following is the explanation:

After the baby is born

As a first step, the doctor will examine the physical symptoms experienced and do questions and answer with parents regarding family health history. Achondroplasia can be recognized with short and disproportionate leg traits.

To ensure a diagnosis, doctors can also carry out further checks with DNA tests. The DNA test is done by taking DNA samples from the blood to then be analyzed in the laboratory. The DNA sample is used to detect the possibility of abnormalities in the FGFR3 gene.

During pregnancy

Achondroplasia diagnosis can also be done during pregnancy, especially for parents who suffer from Achondroplasia. Some checks that can be done to detect Achondroplasia are:

Ultrasonography

Ultrasound is used to check the condition of the fetus in the womb and detect an achondroplasia sign, such as the size of the head is greater than normal. Ultrasound can be done through the mother's stomach (transabdominal) or the vagina (transvaginal ultrasound).

FGFR3 Gene Mutation Detection

Gen mutation detection while still in the womb can be done by taking samples of amniotic water (amniocentesis) or sample placental or ari network, which is called Chorionic Villus Sampling. However, this action is at risk of miscarriage.

Achondroplasia treatment

Until now, there has been no medicine or treatment method to overcome Achondroplasia fully. Handling is only intended to relieve symptoms or prevent and treat complications that arise. The handling includes:

1. Medical check-up

Medical check-ups routinely need to be done to monitor the body's body growth. The examination includes the measurement of the upper body ratio to the bottom and patient weight. It is important to maintain the weight of the patient so that it remains ideal to prevent complications.

2. Hormone therapy

In children with Achondroplasia, doctors may suggest hormone therapy carried out regularly to increase bone growth in children to be able to have a better posture when adults.

3. Dental care

Dental care is done to improve the teeth structure that has stacked due to achondroplasia.

4. Antibiotics

Antibiotics can be used to treat ear infections that are often experienced by Achondroplasia.

5. Ancient medicine

Ancient drugs can be given to treat Achondroplasia patients with joint disorders.

6. Operation

Surgery can be done to relieve symptoms or overcome the complications that occur. Operations that can be done include:

  • Orthopedic procedure

The procedure was conducted by orthopedic doctors to improve the shape of the o.

  • Lumbar Laminectomy.

Operating procedures for overcoming spinal stenosis.

  • Ventriculoperitoneal shunt.

Operation procedures are carried out if Achondroplasia sufferers experience hydrocephalus. This procedure is done by inserting a flexible hose (catheter) to remove excess liquid in the brain cavity.

  • Cesarean section

Pregnant women Achondroplasia sufferers have small pelvic bones, so it is recommended to give birth through a cesarean section procedure. This procedure is also carried out if the fetus is diagnosed with achondroplasia to reduce the risk of bleeding due to the fetal head being too large to be born normally.

Complications of Achondroplasia

Various complications can be experienced by Achondroplasia sufferers, including:

  • Obesity
  • Repeated ear infections, because of narrowing of the tract in the ear
  • Limitations in moving, due to abnormalities in the arm and legs
  • Spinal stenosis, which is a spinal canal narrowing that results in depressed nerves in the spinal cord
  • Hydrocephalus, the buildup of liquid in the cavity (ventricle) in the brain
  • Sleep Apnea, which is the condition of the emergence of breathing rhythms during sleep

Prevention of Achondroplasia

The action to prevent achondroplasia is unknown until now. If you suffer from Achondroplasia or have a history of Achondroplasia in the family, it is advisable to consult a doctor to find out more about the risk of achondroplasia in your child.