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achondroplasia: Diseases & Medical Conditions Search Results
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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: eMedicineHealth)
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. Aside from short arms and legs, the fingers are short and the ring and middle fingers diverge giving the hand a trident (three- pronged) appearance. There is a typically large head with prominence of the forehead (frontal bossing), un ...
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Causes of achondroplasia (Source: MedLinePlus)
Causes 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 mu ...
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Symptoms of achondroplasia (Source: MedLinePlus)
Symptoms 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 curva ...
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achondroplasia - Conventional Treatments (Source: MedLinePlus)
Treatment There is no specific treatment for achondroplasia. Related abnormalities, including spinal stenosis and spinal cord compression, should be treated when they cause problems. ...
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