Achondroplasia Flashcards
What is Achondroplasia the most common cause of?
Disproportionate short stature
What is achondroplasia a form of?
Skeletal dysplasia
What type of inheritance does achondroplasia have?
Autosomal dominant
What is the cause of achondroplasia?
A mutation in the fibroblast growth factor receptor 3 (FGFR-3) gene.
What does the mutation of the fibroblast growth factor receptor 3 (FGFR-3_ gene cause?
Abnormal cartilage
What does the abnormal cartilage give rise to?
- short limbs (rhizomelia)
- shortened fingers (brachydactyly)
- large head with frontal bossing
- narrow foramen magnum
- midface hypoplasia with a flattened nasal bridge
- ‘trident’ hands
- lumbar lordosis
What facial features can present due to the FGFR-3 gene mutation?
- large head with frontal bossing
* midface hypoplasia with a flattened nasal bridge
What spinal issues can occur due to the FGFR-3 mutation?
- narrow foramen magnum
* lumbar lordosis
What are most cases of achondroplasia due to?
Sporadic mutation
What is the main risk factor for achondraplasia?
Advancing maternal age at the time of conception
What is the life expectancy for someone with achondroplasia?
Close to normal
What is not affected by the FGFR-3 gene mutation?
Intelligence and life expectancy
What is the average height of someone with achondroplasia?
4 Foot
Which bones are most commonly affected in achondroplasia?
Femur and humerus
Is there treatment for achondraplasia?
No- it is a genetic condition
