Achondroplasia – What it is, Causes and Symptoms

Achondroplasia – What is it, Causes and Symptoms of this condition that affects the human skeleton . In addition, Achondroplasia  is a hereditary disease, autosomal dominant or acquired, that affects the cartilage of the bones, preventing them from growing. Achondroplasia  is one of the most common forms of disproportionate short stature (dwarfism).

Popularly, individuals with  Achondroplasia are known as dwarfs . In the vast majority of cases (about 80%)  Achondroplasia is sporadic and results from a new mutation, being the first case in the family.

Causes of Achondroplasia:  Achondroplasia may or may not be transmitted from parents to children. It is estimated that the parents of an individual affected with Achondroplasia have a very low probability of repeating this condition in other children, but the offspring of a person who is a carrier of  Achondroplasia  have a 50% probability of passing it on to their children.

Achondroplasia appears to grow as paternal age increases at the time of conception.

Deleterious mutations in the FGFR3 gene are related to the genesis of Achondroplasia . This gene encodes a cell receptor that has a primordial function in the control of bone cartilage maturation and, consequently, Achondroplasia  actively participates in the modulation of bone growth.

Symptoms of Achondroplasia:  People with Achondroplasia usually have normal intelligence levels, their anomalies are only physical.

At birth, a child with Achondroplasia is likely to have:

  • Short stature (significantly below average for age and sex);
  • Short arms and legs in relation to the trunk;
  • short fingers;
  • Head disproportionately large in relation to body;
  • Abnormally large forehead;
  • Underdevelopment of the mid-face region (between the forehead and the upper jaw).

Achondroplasia problems a child may have include:

  • Decreased muscle tone , which can cause delays in walking and other motor skills
  • Apnea (brief periods where breathing is slowed or stopped);
  • Hydrocephalus (water in the brain);
  • Spinal stenosis (a narrowing of the spinal canal that can compress the spinal cord).

Children and adults with Achondroplasia may:

  • Having difficulty bending your elbows;
  • Obesity;
  • Recurrent ear infections, because of narrow passages in the ears;
  • Develop curved legs ;
  • Develop an abnormal curvature of the spine (called kyphosis or lordosis)
  • Develop severe spinal stenosis;

Note: Most people with Achondroplasia have a normal life span. However, there is a slightly increased risk of death during the first year of life. There may also be an increased risk of heart disease later in life for people with Achondroplasia .

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