Type 1 |
α1 |
Caffey disease |
114000 |
AD |
NOS 25-0030 |
|
|
Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 1 |
619115 |
AD |
|
|
|
Ehlers-Danlos syndrome, arthrochalasia type, 1 |
130060 |
AD |
|
|
|
Osteogenesis imperfecta, non-deforming |
166200 |
AD |
NOS 26-0010 |
|
|
Osteogenesis imperfecta, severe perinatal |
166210 |
AD |
NOS 26-0030 |
|
|
Osteogenesis imperfecta, progressively deforming |
259420 |
AD |
NOS 26-0080 |
|
|
Osteogenesis imperfecta, moderate |
166220 |
AD |
NOS 26-0270 |
|
α2 |
Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 2 |
619120 |
AD |
|
|
|
Ehlers-Danlos syndrome, arthrochalasia type, 2 |
617821 |
AD |
|
|
|
Ehlers-Danlos syndrome, cardiac valvular type |
225320 |
AR |
|
|
|
Osteogenesis imperfecta, non-deforming |
166200 |
AD |
NOS 26-0020 |
|
|
Osteogenesis imperfecta, severe perinatal |
166210 |
AD |
NOS 26-0040 |
|
|
Osteogenesis imperfecta, progressively deforming |
259420 |
AD |
NOS 26-0090 |
|
|
Osteogenesis imperfecta, moderate |
166220 |
AD |
NOS 26-0280 |
Type 2 |
α1 |
Achondrogenesis |
200610 |
AD |
NOS 02-0010 |
|
|
Hypochondrogenesis |
200610 |
AD |
NOS 02-0020 |
|
|
Dysplasia of the proximal femoral epiphyses (Avascular necrosis of the femoral head) |
608805 |
AD |
NOS 02-0100 |
|
|
Spondyloepiphyseal dysplasia with metatarsal shortening (Czech dysplasia) |
609162 |
AD |
NOS 02-0080 |
|
|
Kniest dysplasia |
156550 |
AD |
NOS 02-0060 |
|
|
Dysplasia of the proximal femoral epiphyses (Legg-Calve-Perthes disease) |
150600 |
AD |
NOS 02-0100 |
|
|
Spondyloepiphyseal dysplasia congenita (Osteoarthritis with mild chondrodysplasia) |
604864 |
AD |
NOS 02-0040 |
|
|
Platyspondylic dysplasia, Torrance type |
151210 |
AD |
NOS 02-0030 |
|
|
Spondyloepiphyseal dysplasia congenita |
183900 |
AD |
NOS 02-0040 |
|
|
Spondylometaepiphyseal dysplasia, Strudwick type |
184250 |
AD |
NOS 02-0050 |
|
|
Spondyloepiphyseal dysplasia, Stanescu type |
616583 |
AD |
NOS 02-0050 |
|
|
Spondyloperipheral dysplasia |
271700 |
AD |
NOS 02-0070 |
|
|
Stickler syndrome, type I |
108300 |
AD |
NOS 02-0090 |
|
|
Stickler syndrome, type I, nonsyndromic ocular |
609508 |
AD |
|
Type 3 |
α1 |
Ehlers-Danlos syndrome, vascular type |
130050 |
AD |
|
|
|
Polymicrogyria with or without vascular-type Ehlers-Danlos syndrome |
618343 |
AR |
|
Type 5 |
α1 |
Ehlers-Danlos syndrome, classic type, 1 |
130000 |
AD |
|
|
|
Fibromuscular dysplasia, multifocal |
619329 |
AD |
|
|
α2 |
Ehlers-Danlos syndrome, classic type, 2 |
130010 |
AD |
|
Type 9 |
α1 |
Stickler syndrome, type IV |
614134 |
AR |
NOS 09-0080 |
|
|
Epiphyseal dysplasia, multiple |
614135 |
AD |
NOS 09-0050 |
|
α2 |
Epiphyseal dysplasia, multiple |
600204 |
AD |
NOS 09-0060 |
|
|
Stickler syndrome, type V |
614284 |
AR |
NOS 09-0090 |
|
α3 |
Epiphyseal dysplasia, multiple |
600969 |
AD |
NOS 09-0070 |
|
|
Stickler syndrome, type VI |
120270 |
AR |
NOS 09-0100 |
Type 10 |
α1 |
Metaphyseal chondrodysplasia, Schmid type |
156500 |
AD |
NOS 11-0010 |
|
|
|
|
|
|
Type 11 |
α1 |
Marshall syndrome |
154780 |
AD |
NOS 03-0020 |
|
|
Stickler syndrome, type II |
604841 |
AD |
NOS 03-0010 |
|
α2 |
Stickler syndrome, non-ocular type |
184840 |
AD |
NOS 03-0030 |
|
|
Otospondylomegaepiphyseal dysplasia, autosomal dominant |
184840 |
AD |
NOS 03-0070 |
|
|
Otospondylomegaepiphyseal dysplasia, autosomal recessive |
215150 |
AR |
NOS 03-0060 |
Type 27 |
α1 |
Steel syndrome |
615155 |
AR |
NOS 13-0300 |