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achondroplasia - Definition: (Source: MedicineNet)

Achondroplasia : The most common form of short stature with disproportionately short limbs -- dwarfism with short arms and legs. Achondroplasia is caused by mutation in the fibroblast growth factor receptor-3 gene (FGFR3), which is located on chromosome 4 in chromosome band 4p16.3. ...
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About achondroplasia (Source: Medem)
Achondroplasia is a disorder of bone growth. Although achondroplasia literally means "without cartilage formation," the problem is not in forming cartilage but in converting it to bone, particularly in the long bones of the arms and legs. ...
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Frequently Asked Questions for achondroplasia (Source: MedicineNet)
What is achondroplasia?
What are the characteristics of achondroplasia?
How is achondroplasia diagnosed?
What can be done for patients with achondroplasia?
How is achondroplasia inherited?
What is the molecular story with achondroplasia?
Achondroplasia At A Glance

Causes of achondroplasia (Source: MedLinePlus)
Achondroplasia is one of a group of disorders called chondrodystrophies or osteochondrodysplasias. Achondroplasia may be inherited as an autosomal dominant trait, which means that if a child gets the defective gene from one parent, the child will have the disorder. If one parent has achondroplasia, the infant has a 50% chance of inheriting the disorder. If both parents have the condition, the infant's chances of being affected increase to 75%. However, most cases appear as spontaneous mutations. This means that two parents without achondroplasia may give birth to a baby with the condition. ...
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Symptoms of achondroplasia (Source: MedLinePlus)
The typical appearance of achondroplastic dwarfism can be seen at birth. Symptoms may include: Abnormal hand appearance with persistent space between the long and ring fingers; Bowed legs; Decreased muscle tone; Disproportionately large head-to-body size difference; Prominent forehead ( frontal bossing ); Shortened arms and legs (especially the upper arm and thigh); Short stature (significantly below the average height for a person of the same age and sex); Spinal stenosis; Spine curvatures called kyphosis and lordosis. ...
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