Genetics
Achondroplasia has an autosomal dominant pattern of inheritance. However, most cases are the result of a new mutation. There is full penetrance of the condition and little variation in expressivity.
The underlying defect involves fibroblast growth factor receptor 3 protein, on chromosome 4.
Diagnosis of this condition can be made by ultrasound in the second trimester.
Reference
- Leiva-Gea A, Martos Lirio MF, Barreda Bonis AC, et al. Achondroplasia: Update on diagnosis, follow-up and treatment. An Pediatr (Engl Ed). 2022 Dec;97(6)
Related pages
Create an account to add page annotations
Annotations allow you to add information to this page that would be handy to have on hand during a consultation. E.g. a website or number. This information will always show when you visit this page.