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Survey about achondroplasia
We have designed a questionnaire with the purpose to better know the population connected to achondroplasia.
The questionnaire is optional and anonymous. The data obtained will be used for statistical purposes and to better understand the natural history of achondroplasia. Please consider answering.
If you would like to take the survey later, you can click on the link at the top "Register at BA"

Giedre Grigelioniene



MD, Ph.D., Associate Professor and Consultant in Clinical Genetics and Pediatrics, Center for Rare Diseases, Department of Clinical Genetics, Karolinska University Hospital Solna, Stockholm, Sweden.

Specialist in genetics, expertise in congenital skeletal disorders since 1995.

Ph.D. in pediatric science with the thesis: “Clinical and Genetic Investigation of Hypochondroplasia and  Dyschondrosteosis”.


See full CV here.


Sérgio Sousa


Dr sergio

MD, Ph.D., Clinical Genetics Specialist at the Medical Genetics Department, Coimbra University Paediatrics Hospital, Portugal

MSc, Master in Molecular Medicine and Oncology Medical School of the University of Porto, Portugal

Ph.D. thesis "Clinical and molecular characterization of genetic syndromes without known genetic aetiology" University College London

Invited Assistant Professor,  Medical School of the University of Coimbra, Portugal.


See full CV here.

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