Congenital Abnormality
Achondroplasia
An autosomal dominant disorder caused by mutation(s) in the FGFR3 gene, encoding fibroblast growth factor receptor 3. The condition is characterized by inappropriate cartilage growth plate differentiation and deficient endochondral growth, manifest clinically with severe rhizomelic short stature,...
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Medscape
The skeletal dysplasias are a heterogeneous group of disorders characterized by intrinsic abnormalities in the growth and/or remodeling of cartilage and bone. These dysplasias affect the skull,...
NIH Genetic and Rare Diseases
Achondroplasia is a disorder of bone growth that prevents the changing of cartilage (particularly in the long bones of the arms and legs) to bone. It is characterized by dwarfism, limited range...
Encyclopedia Britannica
Achondroplasia, genetic disorder characterized by an abnormality in the conversion of cartilage into bone. As a consequence, bones that depend on cartilage models for development, particularly...
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Achondroplasia is a form of short-limbed dwarfism. The word achondroplasia literally means "without cartilage formation." Cartilage is a tough but flexible ...
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This site is in-development and may not reflect the final version. Preview the new GARD site. Other Names: ACH; Achondroplastic dwarfism.
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Achondroplasia is a genetic condition affecting a protein in the body called the fibroblast growth factor receptor. In achondroplasia, this protein begins ...
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Jul 15, 2016 ... Achondroplasia is a disorder of bone growth. It is the most common form of disproportionate short stature. It occurs in one in every 15,000 ...
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Achondroplasia is the most commonly occurring abnormality of bone growth (skeletal dysplasia), occurring in approximately 1 in 20,000-30,000 live births.
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Jan 3, 2019 ... Achondroplasia is the most common of the skeletal dysplasias that result in marked short stature (dwarfism). Although its clinical and ...
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Jan 10, 2022 ... Achondroplasia, a nonlethal form of chondrodysplasia, is the most common type of short-limb dwarfism. This skeletal dysplasia is inherited ...
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Jan 6, 2022 ... Achondroplasia is the most common cause of disproportionate short stature. Affected individuals have rhizomelic shortening of the limbs, ...
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Jul 14, 2007 ... Achondroplasia must be distinguished from other forms of disproportionate short stature, which, until recently, were all called achondroplasia.
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Jul 4, 2019 ... Achondroplasia is a genetic disorder that inhibits endochondral ossification, resulting in disproportionate short stature and clinically ...