Achondroplasia: What is it? Causes, Diagnosis, Treatment and Life Perspective

Individuals with this disorder have body torso of normal size and short extremities. It is the most common type of dwarfism.

It is a disorder in bone growth that causes a disproportionate dwarfism in people who suffer from it, that is, the development or body growth is minimal, reaching adulthood with a small stature.

Causes

It is caused by an abnormality in the FGFR3 gene, which instructs the body to produce a protein necessary for the growth and maintenance of bones. Mutations in the FGFR3 gene interfere with normal bone development.

Giving a clearer example, in the first stage of the gestation period of the fetus, its skeleton is composed of cartilage. Normally, the cartilage eventually becomes bones, but when suffering from Achondroplasia, most of them do not complete the process.

Is Achondroplasia inherited?

Acomdroplasia is caused by a random mutation, so it is not usually an inherited genetic disorder. However, around 20% of the cases worldwide are hereditary.

The mutation follows a pattern of autosomal dominant inheritance. This means that only one parent needs to transmit a defective FGFR3 gene for a child to have this genetic abnormality.

If a couple the two individuals suffer from this condition, when performing fertilization, the fetus or unborn baby may present:

  • Probability of 25% of having a normal height.
  • 50% chance of inheriting a defective gene.
  • 25% chance of inheriting two defective genes.

You should consider taking a genetic test if there is a history of Achondroplasia before you get pregnant in your family to study the risk of having a child with this condition.

If you are expecting a child and you discover that you have Achondroplasia through a genetic analysis, you are probably born with:

A short stature that is significantly below average for age and sex.

  • Arms and short legs.
  • Proportionally small fingers.
  • Disproportionate head, can sometimes be very large compared to the rest of the body.
  • Front prominent.

Among the health problems that a baby can have include:

  • Weak musculature, which can cause delays in walking, among other motor problems.
  • Difficulty breathing.
  • Hydrocephalus

Adults may suffer from:

  • Difficulty to bend the elbows.
  • Obesity.
  • Recurrent infections in the ears.
  • Bowlegged
  • Abnormal curvature of the spine.

How high are people with Achondroplasia?

There is an average height for adults with this physical condition and ranges from 121.9 cm to 152.4 cm for men and 106.6 cm to 121.9 cm for women.

Types of diagnosis

Diagnosis during pregnancy:

Some characteristics of Achondroplasia are detected during an ultrasound in the gestation process. These include hydrocephalus or an abnormally large head.

The ideal is to request a genetic test (karyotype) if your doctor suspects that the fetus may have Achondroplasia. These tests look for the defective FGFR3 gene in a sample of amniotic fluid.

Diagnosis after birth:

The characteristics of Achondroplasia are so particular that the attending physician can detect at first sight whether or not he suffers from this condition without having to carry out a study of karyotypes.

But to be sure it is always advisable to take an x-ray to measure the length of your baby’s bones, helping to confirm the suspicions or validate the precise diagnosis

How is Achondroplasia treated?

There is no cure or specific treatment for this genetic anomaly, but if certain surgery can be performed in severe cases of spinal stenosis.

Some doctors prescribe some growth hormones to give the patient more chances of acquiring a little more height, especially in children who are in the process of development.

However, in some cases the treatment is not effective or the chances of further growth are modest.

Perspective of life

People with Achondroplasia have a normal life expectancy but the risks of early mortality are high and some rates of heart disease in adulthood, but can live a full life.

Leaving aside the possible health conditions, they should avoid carrying out high-impact sports activities that could damage the spine.