Although achondroplasia and hypochondroplasia are considered distinct clinical diagnoses, they share a significant amount of overlapping features, according to a poster presented at the 2025 American ...

When seated, the children with achondroplasia exhibited slightly restricted chest movement. Children with achondroplasia showed slightly altered breathing patterns compared to healthy children when ...

DNA testing can now also be done before birth to confirm fetal ultrasound findings, especially for parents at high risk of having a child with achondroplasia. Clinical and radiological features of ...

She was born with achondroplasia, the most common form of short-limbed dwarfism. Those with this condition typically have an average-sized torso but shorter legs and arms. While the condition ...

At the core of achondroplasia's pathology lies the hyperactivation of FGFR3, which impairs not only the growth of long bones but also affects cranial, spinal, and vertebral development.

TransCon CNP is an investigational prodrug of C-type natriuretic peptide (CNP) administered once weekly and designed to treat individuals with achondroplasia by providing continuous exposure of ...

The mutational spectrum of fibroblast growth factor receptor 3 (FGFR3) in individuals with achondroplasia. In humans, the mutations associated with achondroplasia patients are mainly located in ...

nuth.nhs.uk Achondroplasia, one of the skeletal dysplasias and the commonest form of disproportionate short stature, has a different developmental and growth profile compared to average stature ...