Achondroplasia (Noun)
Meaning
An inherited skeletal disorder beginning before birth; cartilage is converted to bone resulting in dwarfism.
Classification
Nouns denoting natural processes.
Examples
- Achondroplasia is a genetic disorder that results in dwarfism and is the most common cause of short-limbed dwarfism.
- The effects of achondroplasia can vary in severity, but most individuals with the disorder have short arms and legs, a relatively long torso, and a large head.
- People with achondroplasia may experience various health issues, including sleep apnea, hearing loss, and back pain, but with proper medical care, most live normal lives.
- Achondroplasia occurs in about one in 25,000 to 30,000 births and is inherited in an autosomal dominant pattern, meaning only one copy of the mutated gene is needed to cause the disorder.
- Bone scans and genetic testing can confirm a diagnosis of achondroplasia, but many cases are diagnosed at birth or shortly after based on visible physical characteristics.
Synonyms
Hypernyms
- Inherited Disorder
- Hereditary Disease
- Inherited Disease
- Genetic Abnormality
- Genetic Defect
- Congenital Disease
- Hereditary Condition
- Genetic Disorder