ACHONDROPLASIA Meaning and
Definition
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Achondroplasia is a genetic disorder characterized by abnormal bone development, resulting in a form of dwarfism. It is inherited in an autosomal dominant manner, meaning that the presence of a single copy of the affected gene is sufficient to cause the condition. This disorder primarily affects the long bones of the arms and legs, resulting in shorter limbs and stature in affected individuals.
The main characteristic of achondroplasia is the disproportionate shortening of the limbs compared to the trunk, giving affected individuals a characteristic appearance. Other physical features associated with achondroplasia include a larger head with a prominent forehead, a flattened bridge of the nose, and a shortened base of the skull. Additionally, individuals with achondroplasia may experience other health issues such as abnormal curvature of the spine (kyphosis or lordosis), increased risk of recurrent ear infections, and joint problems.
Achondroplasia is caused by a mutation in the fibroblast growth factor receptor 3 (FGFR3) gene, which plays a critical role in bone growth and development. This genetic alteration leads to abnormal cartilage formation in the growth plates of bones, impairing their ability to lengthen normally. Diagnosing achondroplasia is usually done based on physical examination and medical history. Genetic testing can also be performed to confirm the diagnosis.
While there is currently no cure for achondroplasia, management primarily focuses on addressing associated medical issues and providing support to affected individuals and their families. Regular medical check-ups, physical therapy, and specialized care can help optimize quality of life for those living with achondroplasia.
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A practical medical dictionary. By Stedman, Thomas Lathrop. Published 1920.
Common Misspellings for ACHONDROPLASIA
- zchondroplasia
- schondroplasia
- wchondroplasia
- qchondroplasia
- axhondroplasia
- avhondroplasia
- afhondroplasia
- adhondroplasia
- acgondroplasia
- acbondroplasia
- acnondroplasia
- acjondroplasia
- acuondroplasia
- acyondroplasia
- achindroplasia
- achkndroplasia
- achlndroplasia
- achpndroplasia
- ach0ndroplasia
- achondroplazia
- ahondroplasia
- achondropilasia
- achondroplosa
Etymology of ACHONDROPLASIA
The word "achondroplasia" is derived from Greek roots: "a-" meaning "without", "chondro-" meaning "cartilage", and "-plasia" meaning "formation" or "development". Therefore, "achondroplasia" can be translated as "the lack of the proper formation of cartilage". This term specifically refers to a genetic disorder that affects bone growth, resulting in dwarfism.
Similar spelling words for ACHONDROPLASIA
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