Significance of Achondroplasia
Achondroplasia is a genetic disorder that results in disproportionate short stature and is the most common type of dwarfism. It is identified through anthropometric measurements and is characterized by disturbances in endochondral bone formation due to a mutation affecting bone growth. This condition reflects the complexities of bone development and highlights the importance of genetic factors in the manifestation of dwarfism.
Synonyms: Skeletal dysplasia
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The concept of Achondroplasia in scientific sources
Achondroplasia is a genetic disorder causing the most common type of dwarfism, characterized by disrupted endochondral bone formation resulting from specific mutations affecting bone growth and development.
From: World Journal of Pharmaceutical Research
(1) A genetic disorder leading to dwarfism, resulting from a mutation affecting bone growth.[1]
From: Journal of Indian Society of Periodontology
(1) A disorder of bone growth that causes the most common type of dwarfism, characterized by disturbances in endochondral bone formation.[2]
From: Ayushdhara journal
(1) A genetic disorder that leads to disproportionate short stature, identified through anthropometric measurements.[3]