Table 1 Hereditary collagen-related disorders with signs and/or symptoms that may prompt rheumatologic and/or orthopedic consultation
Collagen type | Alpha chain | Disease | OMIM condition [12] | Inheritance | 2023 Skeletal dysplasia nosology [8] |
|---|---|---|---|---|---|
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 |