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Diseases » Achondroplasia » Summary

What is Achondroplasia?

What is Achondroplasia?

  • Achondroplasia: A disorder characterized by problems with bone growth.
  • Achondroplasia: hereditary disturbance of epiphyseal chondroblastic growth, causing inadequate enchondral bone formation and resulting in a peculiar form of dwarfism.
    Source - Diseases Database
  • Achondroplasia: an inherited skeletal disorder beginning before birth; cartilage is converted to bone resulting in dwarfism.
    Source - WordNet 2.1

Achondroplasia is listed as a "rare disease" by the Office of Rare Diseases (ORD) of the National Institutes of Health (NIH). This means that Achondroplasia, or a subtype of Achondroplasia, affects less than 200,000 people in the US population.
Source - National Institutes of Health (NIH)

Ophanet, a consortium of European partners, currently defines a condition rare when it affects 1 person per 2,000. They list Achondroplasia as a "rare disease".
Source - Orphanet

Achondroplasia: Introduction

Types of Achondroplasia:

Broader types of Achondroplasia:

How serious is Achondroplasia?

Prognosis of Achondroplasia: Usually normal life expectancy
Complications of Achondroplasia: see complications of Achondroplasia

What causes Achondroplasia?

Causes of Achondroplasia: see causes of Achondroplasia
Cause of Achondroplasia: Growth plate cartilage in the long bones is converted to bone too early in development.
Causes of Achondroplasia: Although this condition can be inherited in an autosomal dominant manner, 80% of cases are due to new, sporadic mutations. Mutations involve the gene encoding fibroblast growth factor receptor 3 (FGFR3), situated on chromosome 4. Most commonly, a point mutation causes the substitution of arginine for glycine (G380R) in the transmembrane region of the receptor. (Source: Genes and Disease by the National Center for Biotechnology)

What are the symptoms of Achondroplasia?

Symptoms of Achondroplasia: see symptoms of Achondroplasia

Complications of Achondroplasia: see complications of Achondroplasia

Can anyone else get Achondroplasia?

More information: see contagiousness of Achondroplasia
Inheritance: see inheritance of Achondroplasia

Inheritance of genetic conditions: see details in inheritance of genetic diseases.

Achondroplasia: Testing

Diagnostic testing: see tests for Achondroplasia.

Misdiagnosis: see misdiagnosis and Achondroplasia.

How is it treated?

Treatments for Achondroplasia: see treatments for Achondroplasia
Research for Achondroplasia: see research for Achondroplasia

Organs Affected by Achondroplasia:

Organs and body systems related to Achondroplasia include:

Name and Aliases of Achondroplasia

Main name of condition: Achondroplasia

Class of Condition for Achondroplasia: genetic autosomal dominant

Other names or spellings for Achondroplasia:

ACH, Achondroplastic dwarfism

Achondroplastic dwarfism Source - Diseases Database

Achondroplasty, Osteosclerosis congenita, Chondrodystrophy
Source - WordNet 2.1

ACH, Achondroplastic dwarfism
Source - Office of Rare Diseases (ORD) of the National Institutes of Health (NIH)

Achondroplasia: Related Conditions

Research the causes of these diseases that are similar to, or related to, Achondroplasia:


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