achondroplasia Synonyms
No Synonyms and anytonyms found
achondroplasia Meaning
achondroplasia (n)
an inherited skeletal disorder beginning before birth; cartilage is converted to bone resulting in dwarfism
achondroplasia Sentence Examples
- Achondroplasia is a genetic disorder characterized by abnormal bone growth, resulting in short stature and disproportionate limbs.
- Individuals with achondroplasia often exhibit a normal-sized trunk but have shortened arms and legs, a characteristic feature of the condition.
- The majority of achondroplasia cases result from a spontaneous mutation in the FGFR3 gene, affecting the normal regulation of bone growth.
- Achondroplasia is the most common form of dwarfism, with an estimated incidence of about 1 in 15,000 to 40,000 live births.
- Genetic testing can confirm the presence of the FGFR3 mutation and aid in the diagnosis of achondroplasia.
- Children with achondroplasia may face certain health challenges, including issues with joint mobility and an increased risk of spinal complications.
- While achondroplasia does not affect intelligence, individuals with the condition may encounter social and environmental challenges due to their stature.
- Medical interventions and surgeries are available to address specific complications associated with achondroplasia, such as spinal stenosis.
- Achondroplasia is inherited in an autosomal dominant manner, meaning that a child has a 50% chance of inheriting the condition if one parent carries the mutated gene.
- Support groups and advocacy organizations play a crucial role in providing resources and assistance to individuals and families affected by achondroplasia.
FAQs About the word achondroplasia
an inherited skeletal disorder beginning before birth; cartilage is converted to bone resulting in dwarfism
No synonyms found.
No antonyms found.
Achondroplasia is a genetic disorder characterized by abnormal bone growth, resulting in short stature and disproportionate limbs.
Individuals with achondroplasia often exhibit a normal-sized trunk but have shortened arms and legs, a characteristic feature of the condition.
The majority of achondroplasia cases result from a spontaneous mutation in the FGFR3 gene, affecting the normal regulation of bone growth.
Achondroplasia is the most common form of dwarfism, with an estimated incidence of about 1 in 15,000 to 40,000 live births.
