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
Broader types of Achondroplasia:
Prognosis of Achondroplasia: Usually normal life expectancy
Complications of Achondroplasia:
see complications of 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)
Symptoms of Achondroplasia: see symptoms of Achondroplasia
Complications of Achondroplasia: see complications of Achondroplasia
Inheritance:
see inheritance of Achondroplasia
Inheritance of genetic conditions: see details in inheritance of genetic diseases.
Diagnostic testing: see tests for Achondroplasia.
Misdiagnosis: see misdiagnosis and Achondroplasia.
Treatments for Achondroplasia:
see treatments for Achondroplasia
Research for Achondroplasia:
see research for Achondroplasia
Organs and body systems related to Achondroplasia include:
Main name of condition: Achondroplasia
Class of Condition for Achondroplasia: genetic autosomal dominant
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)
Research the causes of these diseases that are similar to, or related to, Achondroplasia:
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