Achondroplasia (acondroplasia): symptoms, causes, and how to deal with it

Definition of achondroplasia

What is achondroplasia (acondroplasia)?

Achondroplasia or acondroplasia is a birth defect or disorder in babies when cartilage does not develop properly.

Cartilage is a tough but flexible tissue. Normally, during the early development of the fetus while in the womb, cartilage forms a large part of the body's skeleton so that it is present in various limbs.

However, in infants with musculoskeletal disorders, the cartilage does not completely transform into bone, especially in the bones in the arms and legs.

The process of forming from cartilage to bone is known as ossification. As a result of the bone formation process that is not going well, the baby has a body of normal size but the limbs are shorter so they look disproportionate.

How common is this condition?

Achondroplasia (acondroplasia) is the most common type of dwarfism. Dwarfism itself is a condition caused by bone growth that is shorter than normal.

Based on the Medline Plus website, there are an estimated 1 case of babies born with this condition, from 15,000 to 40,000 babies.

Signs & symptoms of achondroplasia

Babies and children who experience this bone disorder generally do not experience impaired cognitive development or intelligence.

Symptoms of achondroplasia are more physical and not mental. When newborns, the common symptoms of achondroplasia or acondroplasia in babies are as follows:

• Has a short stature compared to other newborns.
• Has short arms, thighs and legs that do not match his height.
• Has a large head (macrocephaly) that is disproportionate to a wide forehead.
• It has short fingers and the hands appear to be three-pronged due to deviated ring and middle fingers.
• The area of ​​the face between the forehead and upper jaw appears short or out of proportion to its normal size.
• The body seems to bend downward.
• The soles of the feet are flat, short and wide.

Other health conditions that babies with achondroplasia can also have are as follows:

• Disorders of the muscular system, causing the baby to walk too late.
• Experiencing breathing problems, because the rate of breath slows down or stops for a short period (apnea).
• Experiencing hydrocephalus or fluid buildup in the brain.
• Experiencing spinal stenosis due to the narrowing of the spinal canal, pressing the bone marrow.

Meanwhile, in older children, the symptoms of achondroplasia or acondroplasia are as follows:

• Overweight to obesity.
• Has difficulty bending your elbows.
• Experiencing repeated or repeated ear infections due to narrow ear canals.
• Have spinal disorders, such as kyphosis, lordosis, or scoliosis.

There may be signs and symptoms not listed above. If you have concerns about a certain symptom related to the baby's condition, you should immediately consult a doctor.

When to see a doctor?

If you notice that you experience the symptoms as described above, check with your doctor immediately. Every child may have different symptoms. In fact, there are some who experience symptoms that may not be mentioned above.

Causes of achondroplasia

The cause of achondroplasia (acondroplasia) is a genetic mutation or change in genes that occurs during the process of egg and sperm cell formation.

The gene mutation or change involved in this musculoskeletal disorder is FGFR3. The FGFR3 gene is involved in the development process of bone and brain tissue by giving orders to make proteins.

When a gene mutation occurs in the baby's body it causes the work of the FGFR3 protein to become too active. As a result, the overactive work of the FGFR3 protein disrupts the bone development process as well as causes disruption in the process of baby's bone growth.

Risk factors for achondroplasia

Achondroplasia (acondroplasia) is a disorder that is inherited from parents. That means, children born to parents with musculoskeletal disorders are also at risk of experiencing the same conditions as their parents.

This bone disorder is inherited in an autosomal dominant pattern, where one copy of the FGFR3 gene mutation can already cause this abnormality in infants. If both parents pass a copy of the mutated FGFR3 gene, the child's condition will be much worse.

The baby may experience extreme shortening of the bones and underdeveloped ribs. This condition makes the baby die in the womb or die after birth due to failure to breathe.

Diagnosis & treatment of achondroplasia

The information provided is not a substitute for medical advice. ALWAYS consult your doctor.

Achondroplasia or acondroplasia is a birth defect that can be diagnosed during pregnancy or after the baby is born.

Check for achondroplasia during pregnancy

How to diagnose achondroplasia during pregnancy can be done by ultrasound examination (USG) of the baby in the womb.

Doctors will usually diagnose acondroplasia via ultrasound by noting the presence or absence of short or underdeveloped limbs.

In addition, doctors can also diagnose achondroplasia during pregnancy by paying attention to the possibility of other symptoms that the baby is experiencing, such as hydrocephalus.

Not only ultrasound examination, because this condition is caused by heredity, acondroplasia before birth can also be diagnosed with genetic tests.

Genetic tests to diagnose achondroplasia are carried out by examining amniocentesis or taking a sample of amniotic fluid from the womb.

Achondroplasia examination after birth

Meanwhile, for newborns, doctors can diagnose the possibility of acondroplasia by observing and physically examining the baby.

The doctor may suggest other tests if there are certain physical symptoms of your little one that lead to acondroplasia. Other tests can be followed by x-rays or x-rays on the baby.

This test aims to measure the length of the baby's bones if they have achondroplasia. If needed, genetic testing and blood tests can help confirm the possibility of acondroplasia by looking for the FGFR3 gene.

How to treat achondroplasia (acondroplasia)?

There is no specific treatment that can cure achondroplasia. even so, the doctor will choose a treatment in accordance with the signs and symptoms exhibited by the child.

How to treat achondroplasia (acondroplasia) that is usually recommended is:

• If your child has signs of hydrocephalus, the doctor will direct a referral to a neurosurgeon. Medication and surgery may be required.
• If the child experiences symptoms such as difficulty breathing due to apnea, the doctor will perform surgery, namely making a hole in the neck (tracheostomy) or removing the tonsils and adenoids (adenotonsillectomy).
• If a child is obese, doctors and nutritionists will help you to lose weight to the ideal number according to his age and height.
• Symptoms of an infection that continues to attack the child may require the child to take antibiotics.
• Children who are short in stature may be able to take growth hormone therapy.
• If your little one has a varus deformity (changes in bone structure and shape) such as a bent leg, an orthopedist can relieve symptoms with physical therapy. Usually this condition does not require surgical correction of the bone.
• If there is a spinal abnormality, your little one should sit with a support at 12-18 months of age. Then, it is followed by the use of a support corset so that the abnormal bone curvature does not get worse. If it is severe, surgery is usually performed.
• If your child has spinal stenosis, which is a narrowing of the space in the spine, the doctor may recommend surgical surgery.

Home remedies for achondroplasia

Children born with achondroplasia can have hope and a better quality of life, with proper care by parents and home caregivers.

You as a parent should take your little one to the doctor regularly for health checks. Caring for your little one with this condition is certainly not an easy task.

However, you don't need to worry. You can attend counseling with doctors, follow a healthy diet recommended by nutritionists to meet their nutritional intake, and join the community of parents who also have children with similar conditions.

Don't forget, to make sure your little one goes through all immunizations to prevent certain health problems from developing.

Prevention of achondroplasia

Achondroplasia (acondroplasia) is a bone disorder caused by a gene mutation. Therefore, there is no specific way you can prevent achondroplasia.