What is Achondroplasia?

Contents

Achondroplasia: Introduction
Types of Achondroplasia
Prognosis
Complications
Other names for Achondroplasia
What causes Achondroplasia?
What are the symptoms of Achondroplasia?
Organs Affected by Achondroplasia
Can anyone else get Achondroplasia?
How is it treated?
Achondroplasia: Introduction

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)