The workshop includes several lectures of the well-known experts in the field.
Thursday 21.5.2026
Morning
Moderator
- 08.45-08.55 Welcome and Introduction to the Workshop; Outi Mäkitie, Finland
- 08.55-09.25 An overview of the phenotypic and genotypic spectrum of skeletal dysplasias; Geert Mortier, Belgium
- 09.25-09:50 An update on genetic tools; Giedre Grigelioniene, Sweden
- 09.50-10.15 Case presentations: Norwegian cases; TBA
- 10.15-10.30 COFFEE
- 10.30-11.00 What is new in osteogenesis imperfecta?; Outi Mäkitie, Finland
- 11.00-11.25 Dental and oral manifestations of OI; Heidi Arponen, Finland
- 11.25-11.50 Quality of life in patients with OI; Lena Lande Wekre, Norway
- 11.50-12.15 Case presentations: Danish cases; TBA
- 12.15-13.15 LUNCH, ,
Afternoon
Moderator
- 13.15-13.45 Achondroplasia - un update on novel treatments; Svein Fredwall, Norway
- 13.45-14.05 Bone dysplasias related to PTHLH-PTH1R signaling; Gen Nishimura, Japan
- 14.05-14.20 Genetic testing and variant interpretation in skeletal dysplasias; Maria Haanpää, Finland
- 14.20-14.45 Case presentations: Swedish cases; TBA
- 14.45-15:05 COFFEE
- 15.05-15.30 Enzyme replacement therapies in metabolic bone diseases; Harri Niinikoski, Finland
- 15.30-15.55 Spinal problems and orthopedic management; Ilkka Helenius, Finland
- 15.55-16.15 Research presentations; TBA
***
- 18.30-23.00 Networking dinner - ,
Friday 22.5.2026
Morning
Moderator TBA
- 08.30-09.00 Prenatal diagnostics in skeletal dysplasia; Laura Tanner, Finland
- 09.00-09.30 Radiological overview of GAG synthesis disorders; Gen Nishimura, Japan
- 09.30-09.50 Mulibrey nanism - Skeletal manifestations; Susann Karlberg, Finland
- 09.50-10.15 Case presentations: Finnish cases; Saila Laakso, Helena Valta
- 10.15-10.30 COFFEE
- 10.30-11.00 Novel genetic forms of short stature; Mari Muurinen, Finland
- 11.00-11.30 What is new in hypochondroplasia?; Laurence Legeai-Mallet, France
- 11.30-12.00 Patient perspective; TBA
- 12.00-13.00 LUNCH, ,
Afternoon
Moderator TBA
- 13.00-13.40 Hypophosphatemic rickets and effects of burosumab; Thomas Carpenter, USA
- 13.40-14.00 Burosumab in children - the Finnish experience; Helena Valta, Finland
- 14.00-14.45 Research presentations; TBA
- 14.45-15.00 Concluding remarks; Outi Mäkitie, Finland