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
| Name(s) | Expertise / Role | Organisation | |
|---|---|---|---|
| Lead: Klaus Mohnike | pediatric endocrinologist | Otto-von-Guericke-University Magdeburg, Germany |
|
| Genevieve Baujat | clinical geneticist | Université Paris Descartes-Sorbonne Paris Cité, Hôpital Necker-Enfants malades, France | |
| Inês Alves | patient representative, ePAG ERN BOND | ANDO Portugal, Portugal | |
| Geert Mortier | clinical geneticist | Centrum Medische Genetica, Belgium |
|
| Carmen Vleggeert-Lankamp | neurosurgeon | Leiden University Medical Center, the Netherlands |
|
| Svein O. Fredwall | senior medical consultant | TRS National Resource Center for Rare Disorders Sunnaas Rehabilitation Hospital, Norway | |
| Maria Francesca Bedeschi | clinical geneticist | Fondazione IRCCS Ca’ Granda Ospedale Maggiore Policlinico, Italy | |
| Marco Sessa | patient representative | Achondroplasia foundation, Italy |
For more information regarding the study or if you are interested to contribute to this study, please contact registries@lumc.nl.