Molecular diagnosis of Skeletal Dysplasias

The specific skeletal dysplasias for which molecular diagnosis is offered are shown in the table below. Each skeletal dysplasia listed is linked to the appropriate service profile. Please view these service profiles for further information.

Centre Disease specialities Genes screened

Manchester

Multiple Epiphyseal Dysplasia , Pseudoachondroplasia. Molecular Genetics Service Profiles for MED and PSACH can also be viewed from the Genetic Medicine, Central Manchester University Hospitals website. COMP, COL9A1, COL9A2, COL9A3 and MATN3

Newcastle

Ellis-van Creveld syndrome EVC

Gent

Osteogenesis Imperfecta Types I-IV , Osteogenesis Imperfecta and Ehlers Danlos Syndrome, further details COL1A1 and COL1A2

Antwerp

Achondrogenesis II, Hypochondrogenesis, Kniest dysplasia, Spondyloepiphyseal dysplasia, Spondyloepimetaphyseal dysplasia, Stickler dysplasia COL2A1

Oulu

Stickler dysplasia, Otospondylomegaepiphyseal dysplasia, Marshall Syndrome, Weissenbacher-Zweymuller Syndrome COL11A1 and COL11A2

Paris

Thanatophoric dysplasia -Types I and II, Achondroplasia, Hypochondroplasia, Other FGFR3 disorders, SADDAN dysplasia FGFR3

Lausanne

Diastrophic dysplasia, Achondrogenesis 1B, Atelosteogenesis type II, Multiple Epiphyseal Dysplasia (R), Other DTD variant disorders DTDST (SLC26A2)

Lausanne

Spondylocostal dysostosis Dll3

Lausanne

Progressive pseudorheumatoid dysplasia WISP-3

Freiburg

 

Cartilage-hair hypoplasia

Service profiles for additional molecular diagnosis provided by the Freiburgh team will be avaible to down load from here soon. In the meantime please go to skeldys.org for further information.

RMRP