Achondroplasia is a Greek word meaning "without cartilage formation" and is one of the most common causes of dwarfism. The appearance is of short stature with ... more about Achondroplasia.
Achondroplasia: A disorder characterized by problems with bone growth.
More detailed information about the symptoms,
causes, and treatments of Achondroplasia is available below.
Symptoms of Achondroplasia
See full list of 25
symptoms of Achondroplasia
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Wrongly Diagnosed with Achondroplasia?
Achondroplasia: Related Patient Stories
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Causes of Achondroplasia
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Disease Topics Related To Achondroplasia
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Less Common Symptoms of Achondroplasia
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Achondroplasia: Undiagnosed Conditions
Commonly undiagnosed diseases in related medical categories:
Misdiagnosis and Achondroplasia
Mild worm infections undiagnosed in children: Human worm infestations, esp. threadworm, can be overlooked in some cases,
because it may cause only mild or even absent symptoms....read more »
Mesenteric adenitis misdiagnosed as appendicitis in children: Because appendicitis is one of the
more feared conditions for a child with abdominal pain, it can be over-diagnosed
(it can, of course,...read more »
Blood pressure cuffs misdiagnose hypertension in children: One known misdiagnosis issue
with hyperension, arises in relation to the simple equipment used to test blood pressure...read more »
Children with migraine often misdiagnosed: A migraine often fails to be
correctly diagnosed in pediatric patients.
These patients are not the typical migraine sufferers, but...read more »
Read more about Misdiagnosis and Achondroplasia
Achondroplasia: Research Doctors & Specialists
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Hospitals & Clinics: Achondroplasia
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Prognosis for Achondroplasia
Prognosis for Achondroplasia:
Usually normal life expectancy
More about prognosis of Achondroplasia
Research about Achondroplasia
Visit our research pages for current research about Achondroplasia treatments.
Clinical Trials for Achondroplasia
The US based website ClinicalTrials.gov lists information on both federally
and privately supported clinical trials using human volunteers.
Some of the clinical trials listed on ClinicalTrials.gov for Achondroplasia include:
Read more about Clinical Trials for Achondroplasia
Statistics for Achondroplasia
Achondroplasia: Broader Related Topics
Types of Achondroplasia
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Article Excerpts about Achondroplasia
Achondroplasia is a Greek word meaning "without cartilage formation" and is one of the most common causes of dwarfism. The appearance is of short stature with disproportionately short arms and legs and a large head. The characteristic facial features include a prominent forehead and a flattened bridge of the nose.
(Source: Genes and Disease by the National Center for Biotechnology)
Definitions of Achondroplasia:
Hereditary disturbance of epiphyseal chondroblastic growth, causing inadequate enchondral bone formation and resulting in a peculiar form of dwarfism.
- (Source - Diseases Database)
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
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