Achondroplasia

Achondroplasia is a type of dwarfism due to a genetic disorder of cartilage on bones. The cartilage converts to bones too quickly during growth, and the result is shorter arms and legs. Other bones such as the spine and the skull are not affected. Achondroplasia is a type of dwarfism ...

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Introduction: Achondroplasia

Achondroplasia is a form of short-limbed dwarfism. The word achondroplasia literally means "without cartilage formation." Cartilage is a tough but flexible tissue that makes up much of the skeleton during early development. However, in achondroplasia the problem is not ...1

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Symptoms of Achondroplasia

What are the symptoms of achondroplasia? People who have achondroplasia have abnormal bone growth that causes the following clinical symptoms: short stature with disproportionately short arms and legs, short fingers, a large head (macrocephaly) and specific facial features with a ...2

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Causes of Achondroplasia

Achondroplasia is caused by a gene alteration (mutation) in the FGFR3 gene. The FGFR3 gene makes a protein called fibroblast growth factor receptor 3 that is involved in converting cartilage to bone. FGFR3 is the only gene known to be ...3

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Causes List for Achondroplasia

Some possible causes of Achondroplasia or similar disorders may include:4

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Types of Achondroplasia

Some types of this condition may include:5 Types of achondroplasia:

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Types of Achondroplasia

Types may include:6

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Diagnosis of Achondroplasia

How is achondroplasia diagnosed? Achondroplasia is diagnosed by characteristic clinical and X-ray findings in most affected individuals. In individuals who may be too young to make a diagnosis with certainty or in individuals who do not have the typical ...7

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Genetics of Achondroplasia

Most people who have achondroplasia have average-size parents. In this situation, the FGFR3 gene mutation occurs in one parent's egg or sperm cell before conception. Other people with achondroplasia inherit the condition from a parent who has achondroplasia. Source ...8

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Treatments: Achondroplasia

What is the treatment for achondroplasia? No specific treatment is available for achondroplasia. Children born with achondroplasia need to have their height, weight and head circumference monitored using special growth curves standardized for achondroplasia. Measures to avoid obesity at an ...9

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Names and Terminology

Other Names for This Condition

Source: GHR (NLM/NIH)10 ...

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References

  1. Source: GHR (NLM/NIH): ghr.nlm.nih.gov/ condition/ achondroplasia
  2. Source: NHGRI (NIH): genome.gov/ 19517823/ learning-about-achondroplasia/ 
  3. ibid.
  4. Source: Algorithmically Generated List
  5. Source: NCI Thesaurus
  6. Source: MeSH (U.S. National Library of Medicine)
  7. Source: NHGRI (NIH): genome.gov/ 19517823/ learning-about-achondroplasia/ 
  8. ibid.
  9. ibid.
  10. Source: GHR (NLM/NIH): ghr.nlm.nih.gov/ condition/ achondroplasia

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