Table 2.
- Osteogenesis Imperfecta type III (see OMIM for various forms) | |
- Vitamin D-dependent rickets type 2 (OMIM 277440; 600,785) | |
- Hypophosphatasia Infantile form (OMIM 241500) | |
- Cleidocranial dysplasia (OMIM 119600) | |
- Osteopetrosis (see OMIM for various forms) | |
- Ellis-van Creveld (OMIM 225500) | |
- Jeune syndrome (OMIM 208500) | |
- Diastrophic dysplasia (OMIM 222600) | |
- Marfan syndrome (OMIM 154700) | |
- Neurofibromatosis type 1 (OMIM 162200) | |
- Mucopolysaccharidosis (see OMIM for various forms) | |
- Achondrogenesis (OMIM 200600) | |
- Poland syndrome (OMIM 173800) | |
- Klippel-Feil syndrome (see OMIM for various forms) | |
- Spondylocostal dysostosis (see OMIM for various forms) | |
- Thanatophoric dysplasia (OMIM 187600;187,601) | |
- Barnes symdrome (OMIM 187760) | |
- Short-rib polydactyly dysplasia (see OMIM for various forms) | |
- Congenital scoliosis (OMIM 122600) |
OMIM Online Mendelian Inheritance in Man, OMIM®