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Achondroplasia Dwarfism: Definition, Symptoms & Treatment

Chapter 17 /  Lesson 20
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Instructor: Brekke Peterson Munks
Did you know that there are different kinds of dwarfism? In this lesson, you will learn about achondroplasia dwarfism. You will be able to define achondroplasia, identify symptoms, and learn about healthcare related to this type of dwarfism.

What is Achondroplasia Dwarfism?

Have you ever watched any of the shows on TV about the real lives of people living with dwarfism? If you have, you've probably heard of achondroplasia dwarfism. Achondroplasia dwarfism is the most common type of dwarfism. It is a genetic condition which causes the limbs of a person to be shorter then normal. These individuals have normal-sized torsos but their legs and arms are shorter than is typical.

Example of an individual with achondroplasia.
achondroplasia

The number of babies born with achondroplasia each year ranges from roughly one in 15,000 to one in 40,000. Males with the condition are generally around four feet ten inches tall or 131 centimeters. Females born with achondroplasia are generally four feet one inch tall or 124 centimeters.

Symptoms of Achondroplasia

Achondroplasia is not a bacterial infection, caused by a virus or simply fixed with drugs. This is a genetic condition that is caused by mutation, a change in genetic code, that alter the genes that are expressed. A set of parents can be of normal stature but have an achondroplastic baby simply due to mutation.

Symptom is not the appropriate word to describe how achondroplasia is presented as symptoms are typically treated in medicine with the intention of lessening them. There are specific characteristics associated with achrondroplasia:

  • Short arms; the upper arm is short, which results in a limited range of motion.
  • Short legs; the thigh of the leg is generally short, this also limits the range of motion.
  • Normal sized torso.
  • Enlarged head, called macrocephaly. In general, individuals with achondroplasia have a larger forehead.
  • Short fingers.
  • Normal intelligence.

Potential Health Issues

Individuals who have achondroplasia can have other health issues associated with their genetic condition. Shortened breath can cause times when the individual will stop breathing, also called apnea. People with this condition can also be overweight as a result of reduced movement. Children with this condition typically have bowing of the legs and a curved spine, resulting in back pain. More serious conditions associated with achondroplasia are compression of the spinal cord due to a narrowing of the spinal canal and swelling of the brain at birth.

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