Achondroplasia definitions
| Word backwards | aisalpordnohca |
|---|---|
| Part of speech | Noun |
| Syllabic division | a-chon-dro-pla-si-a |
| Plural | The plural of achondroplasia is achondroplasias. |
| Total letters | 14 |
| Vogais (3) | a,o,i |
| Consonants (8) | c,h,n,d,r,p,l,s |
Achondroplasia is a genetic disorder that affects bone growth, resulting in dwarfism. It is the most common form of disproportionate short stature. This condition is caused by a mutation in the FGFR3 gene, which leads to abnormal growth of the long bones.
Symptoms
Individuals with achondroplasia typically have short stature, disproportionately short arms and legs, a large head with a prominent forehead, and a flattened bridge of the nose. They may also experience other complications such as obesity, lordosis (excessive inward curvature of the spine), and recurrent ear infections.
Diagnosis
Achondroplasia is usually diagnosed shortly after birth based on physical characteristics and imaging tests such as X-rays. Genetic testing can confirm the presence of the FGFR3 gene mutation.
Treatment
While there is no cure for achondroplasia, treatment focuses on managing symptoms and complications. This may include physical therapy to strengthen muscles and improve flexibility, surgical interventions to address spinal issues, and monitoring for conditions like sleep apnea and hydrocephalus.
Prognosis
With proper medical care and support, individuals with achondroplasia can lead healthy and fulfilling lives. Early intervention and regular monitoring are important in managing the condition and preventing complications.
In conclusion, achondroplasia is a genetic disorder that affects bone growth and results in dwarfism. While there is no cure, proper treatment and monitoring can help individuals with this condition live well-adjusted lives.
Achondroplasia Examples
- Individuals with achondroplasia typically have short stature.
- Achondroplasia is a genetic disorder that affects bone growth.
- Parents with achondroplasia have a 50% chance of passing the gene onto their children.
- Children with achondroplasia may experience delayed motor development.
- Achondroplasia can be diagnosed through genetic testing.
- People with achondroplasia may benefit from physical therapy to improve mobility.
- Individuals with achondroplasia may require customized furniture and equipment for daily living.
- Prenatal testing can detect achondroplasia in unborn babies.
- Achondroplasia is the most common form of dwarfism.
- Medical interventions such as limb lengthening surgery may be considered for individuals with achondroplasia.