| Disorder | Gene test | Contact | |
|---|
Achondroplasia
Thanatophoric Dysplasia
Hypochondroplasia | FGFR3 | Dr. Ekkehart Lausch | ekkehart.lausch (at) uniklinik-freiburg.de
Phone +49-761-270-4391 (office), -4513 (lab) |
Achondrogenesis type 2
Hypochondrogenesis
SEDC (Spondylo-epiphyseal dysplasia)
Kniest dysplasia
Spondyloperipheral dysplasia
Stickler syndrome | COL2A1 | Dr. Ekkehart Lausch | ekkehart.lausch (at) uniklinik-freiburg.de
Phone +49-761-270-4391 (office), -4513 (lab) |
Diastrophic Dysplasia
Achondrogenesis type 1B
Atelosteogenesis type 2
Multiple Epiphyseal Dysplasia, recessive type | DTDST | Dr. Luisa Bonafé, Lausanne
Dr. Ekkehart Lausch | luisa.bonafe (at) chuv.ch
ekkehart.lausch (at) uniklinik-freiburg.de
Phone +49-761-270-4391 (office), -4513 (lab) |
Metaphyseal Dysplasia Schmid | COL10A1 | Dr. Ekkehart Lausch | ekkehart.lausch (at) uniklinik-freiburg.de
Phone +49-761-270-4391 (office), -4513 (lab) |
Grebe dysplasia
Hunter-Thompson dysplasia
Brachydactyly type C | CDMP1
(GDF5) | Dr. Ekkehart Lausch | ekkehart.lausch (at) uniklinik-freiburg.de
Phone +49-761-270-4391 (office), -4513 (lab) |
Acromesomelic Dysplasia, Maroteaux type (AMDM) | NPR2 | Dr. Ekkehart Lausch | ekkehart.lausch (at) uniklinik-freiburg.de
Phone +49-761-270-4391 (office), -4513 (lab) |
Cartilage-Hair Hypoplasia | RMRP | Kerstin Reicherter | kerstin.reicherter (at) uniklinik-freiburg.de
Phone +49-761-270-4513 (lab) |
Pseudoachondroplasia
Multiple Epipheal Dysplasia | COMP | Dr. Ekkehart Lausch | ekkehart.lausch (at) uniklinik-freiburg.de
Phone +49-761-270-4391 (office), -4513 (lab) |
Spondylocostal Dysplasia type 1 | Dll3 | Dr. Luisa Bonafé, Lausanne
| luisa.bonafe (at) chuv.ch
Phone +41-21-314-3483 |
Spondylocostal Dysplasia type 2 | MESP2 | Dr. Luisa Bonafé, Lausanne
| luisa.bonafe (at) chuv.ch
Phone +41-21-314-3483 |
Progressive Pseudorheumatoid Dysplasia | WISP3 | Dr. Luisa Bonafé
Lausanne | luisa.bonafe (at) chuv.ch
Phone +41-21-314-3483 |
Osteogenesis Imperfecta (various types, I - IV) | COL1A1
COL1A2 | Prof. Geert Mortier, Gent
| geert.mortier (at) UGent.be |
Campomelic Dysplasia | SOX9 | Prof. Gerd Scherer | gerd.scherer (at) uniklinik-freiburg.de |
Multiple Synostoses Syndrome 1 | NOG | Dr. Ekkehart Lausch | ekkehart.lausch (at) uniklinik-freiburg.de
Phone +49-761-270-4391 (office), -4513 (lab) |
Nail-Patella-Syndrome | LMX1B | Dr. Ekkehart Lausch | ekkehart.lausch (at) uniklinik-freiburg.de
Phone +49-761-270-4391 (office), -4513 (lab) |
Chondrodysplasia Punctata (CDPX1)
Brachytelephalangic Type | ARSE | Dr. Ekkehart Lausch | ekkehart.lausch (at) uniklinik-freiburg.de
Phone +49-761-270-4391 (office), -4513 (lab) |
Apert Syndrome | FGFR2 | Dr. Ekkehart Lausch | ekkehart.lausch (at) uniklinik-freiburg.de
Phone +49-761-270-4391 (office), -4513 (lab) |
Dominant Brachyolmia
Spondylometaphyseal Dysplasia Kozlowski
Metatropic Dysplasia | TRPV4 | Dr. Ekkehart Lausch | ekkehart.lausch (at) uniklinik-freiburg.de
Phone +49-761-270-4391 (office), -4513 (lab) |
