Natural History of Achondroplasia

Achondroplasia is a complex growth disorder affecting not only long bones, but spine, cranial bone, pelvic and other organ functions. To further evaluate available treatment (orthopedic, neurosurgical, otorhinolaryngological, etc) as well as drugs, knowledge of natural history is essential. So far, only retrospective data have been published and EuRREB and affiliated registries are a valuable source of prospective data.

Achondroplasia is a rare condition leading to disproportionate small stature and may cause multiorganal complications. To evaluate the standard of care and outcome of orthopedic, neurosurgical, otorhinolaryngological and pharmacological treatment a prospective data analysis from EuRREB and affiliated registries is necessary.

Objective

Improve the knowledge on the natural history of achondroplasia and the treatment of patients with achondroplasia.

For publications from this and other study groups, see our publication page.

Members of this Study Group

For more information regarding the study or if you are interested to contribute to this study, please contact registries@lumc.nl.

*The Principal Investigator (PI) is the lead applicant responsible for submitting the data request and initiating the study.