achondroplasia Synonyms

No Synonyms and anytonyms found

achondroplasia Meaning

Wordnet

achondroplasia (n)

an inherited skeletal disorder beginning before birth; cartilage is converted to bone resulting in dwarfism

achondroplasia Sentence Examples

  1. Achondroplasia is a genetic disorder characterized by abnormal bone growth, resulting in short stature and disproportionate limbs.
  2. Individuals with achondroplasia often exhibit a normal-sized trunk but have shortened arms and legs, a characteristic feature of the condition.
  3. The majority of achondroplasia cases result from a spontaneous mutation in the FGFR3 gene, affecting the normal regulation of bone growth.
  4. Achondroplasia is the most common form of dwarfism, with an estimated incidence of about 1 in 15,000 to 40,000 live births.
  5. Genetic testing can confirm the presence of the FGFR3 mutation and aid in the diagnosis of achondroplasia.
  6. Children with achondroplasia may face certain health challenges, including issues with joint mobility and an increased risk of spinal complications.
  7. While achondroplasia does not affect intelligence, individuals with the condition may encounter social and environmental challenges due to their stature.
  8. Medical interventions and surgeries are available to address specific complications associated with achondroplasia, such as spinal stenosis.
  9. 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.
  10. 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.