Acheiropody |
Achondrogenesis 1B |
Achondrogenesis 2 |
Achondroplasia |
Acromandibular syndrome |
Apert syndrome |
Asphyxiating thoracic dystrophy |
Atelosteogenesis types 1, 2, and 3 |
Barnes syndrome |
Brachydactyly B |
Caffey disease—perinatal type |
Campomelic dysplasia |
CHILD syndrome |
Chondrodysplasia Punctata—rhizomelic type |
Chondrodysplasia Punctata—Conradi-Hunerman |
Cleidocranial dysplasia |
Desbuquois dysplasia |
Diastrophic dysplasia |
Ectrodactyly syndrome |
Ehlers-Danlos syndrome type 7B |
Ellis van Creveld syndrome |
Focal femoral hypoplasia with/without unusual facies |
Gracile bone dysplasia |
Hypochondrogenesis |
Hypophosphatasia—perinatal lethal type |
Kniest dysplasia |
Larsen syndrome |
Lethal Platyspondylic dysplasia—Torrance type |
Metaphyseal Chondrodysplasia—McKusik type |
Metatropic dysplasia |
Mucolipidosis 2 |
Multiple synostosis syndrome |
Nail-Patella syndrome |
Neu-Laxova syndrome |
OSMED dysplasia |
Opsismodysplasia |
Osteogenesis Imperfecta type 2 and 3 |
Otopalatodigital syndrome type 2 |
Pfeiffer syndrome |
Pseudodiastrophic dysplasia |
Roberts SC Phocomelia |
SMD—Sedaghatian type |
Schneckenbecken dysplasia |
Short-rib polydactyly syndrome—types 2, 3, and 4 |
Spondyloepiphyseal dysplasia congenita |
Spondylothoracic dysplasia |
Stuve-Wiedemann syndrome |
Thanatophoric dysplasia 1 and 2 |
Tibia–Ectrodactyly syndrome |
Type 2 hemimelia |
Unclassified skeletal dysplasias |