Thanatophoric dysplasia |
AD |
FGFR3 |
Achonodroplasia |
AD |
FGFR3 |
Hypochondroplasia |
AD |
FGFR3 |
SADDNA |
AD |
FGFR3 |
Type II collagen disorders |
Achondrogenesis II |
AD |
COL2A1 |
Hypochondrogenesis |
AD |
COL2A1 |
Spondyloepiphyseal dysplasia congenita (SEDC) |
AD |
COL2A1 |
Kniest dysplasia |
AD |
COL2A1 |
Type X1 collagen disorders |
Fibrochondrogenesis |
AR |
COL11A1 |
Fibrochondrogenesis |
AD |
COL11A1, COL11A2 |
Otospondylomegaepiphyseal dysplasia (OSMED) |
AR |
COL11A2 |
Sulfation disorders |
Achondrogenesis IB |
AR |
SLC26A2 |
Atelosteogenesis II |
AR |
SLC26A2 |
Diastrophic dysplasia |
AR |
SLC26A2 |
Chondrodysplasia with congenital joint dslocations |
AR |
CHST3 |
Perlecan disorders |
Dyssegmental dysplasia |
AR |
PLC |
Dyssegmental dysplasia, Silverman-Handmaker type |
AR |
PLC |
Dyssegmental dysplasia, Rolland Desbuquois type |
AR |
PLC |
Filamin Disorders and similar disorders |
Otopalatodigital syndrome I and II |
XLD |
FLNA |
Osteodysplasty, Melnick-Needles |
XLD |
FLNA |
Atelosteogenesis types I and III |
AD |
FLNB |
Larsen syndrome |
AD |
FLNB |
Spondylo-carpal-tarsal dysplasia |
AR |
FLNB |
Serpentine fibula-polycystic kidney syndrome |
AD |
NOTCH2 |
TRPV4 disorders |
Metatopic dysplasia |
AD |
TRPV4 |
Short-rib dysplasias (with and without polydactyly) |
Chondroectodermal dysplasia (Ellis-van Creveld (EVC) |
AR |
EVC1, EVC2 |
Short-rib polydactyly syndrome I, II, III and IV including Asphxiating Thoracic Dystrophy |
AR |
DYNC2H1,IFT80NEKWDR35WDR19WDR34 |
Thoracolaryngeal dysplasia |
AD |
unknown |
Metaphyseal dysplasias |
Cartilage-hair hypoplasia |
AR |
RMRP |
Metaphyseal dysplasia, Jansen type |
AD |
PTHR1 |
Spondylo-epi-(meta)-physeal dysplasia |
SEMD, short limb abnormal calcification type |
AR |
DDR2 |
Severe spondylodysplastic dysplasias |
Achondrogenesis 1A |
AR |
GMAP210 |
Schneckenbecken dysplasia |
AR |
SLC35D1 |
Opsismodysplasia |
AR |
INPPL1 |
Acromesomelic disorders |
Acromesomelic dysplasia, type Maroteaux |
AR |
NPR2 |
Mesomelic and rhizo-mesomelic dysplasias |
Langer type (homozygoud dyschondrosteosis |
pseudo-AR/XLD |
SHOX |
Omodysplasia |
AR |
GPC6 |
Robinow syndrome, recessive |
AR |
ROR2 |
Robinow syndrome, dominant |
AD |
WNT5 |
Bent bone dysplasias |
Campomelic dysplasia |
AD |
SOX9 |
Stuve-Wiedemann dysplasia |
AR |
LIFR |
Bent bone dysplasia FGFR2 type |
AD |
FGFR2 |
Slender bone dysplasias |
Microcephalic osteodysplastic primordial dwarfism (MOPD1) |
AR |
RNU4ATAC |
Microcephalic osteodysplastic primordial dwarfism (MOPD2) |
AR |
PCNT |
Osteocraniostenosis |
|
FAM111A |
Dysplasias with multiple joint dislocations |
Desbuquois dysplasia |
AR |
CANT1, XYLT1 |
Pseudodiatrophic dysplasia |
AR |
unknown |
Chondrodysplasia punctata group (CDP) |
CDP, X-linked dominant |
XLD |
EBP |
Conradi-Hunermann type (CDPX2) |
XLR |
ARSE |
brachytelephalangic type (CDPX1) |
XLD |
NSDHL |
CHILD syndrome |
XLD |
EBP |
Greenberg dysplasia |
AR |
LBR |
Rhizomelic CDP type 1 |
AR |
PEX7 |
Rhizomelic CDP type 2 |
AR |
DHPAT |
Rhizomelic CDP type 3 |
AR |
AGPS |
Neonatal osteosclerotic dysplasias |
Bloomstrand dysplasia |
AR |
PTHR1 |
Desmosterolosis |
AR |
DHCR24 |
Caffey disease (infantile) |
AD |
COL1A1 |
Raine dysplasia |
AR |
FAM20C |
Increased bone density group |
Osteopetrosis (severe neonatal or infantile forms) |
AR |
TCIRG1 |
Osteopetrosis (severe neonatal or infantile forms) |
AR |
CLCN7 |
Dysosteosclerosis |
AR |
SLC29A3 |
Lenz-Majewski hyperostostic dysplasia |
SP |
PTDSS1 |
Osteogenesis imperfecta and decreased bone density group |
|
|
Osteogenesis imperfecta, moderate, severe and perinatal lethal |
AD |
COL1A1, COL1A2 IFITM5 |
Osteogenesis imperfecta, moderate, severe and perinatal lethal |
AR |
CRTAPP3H1PPBIFKBP10HSP47SP7WNT1TMEM33B |
Bruck syndrome |
|
PLOD2FKBP10 |
Osteoporosis-pseudoglioma syndrome |
AR |
LRP5 |
Cole-Carpenter dysplasia |
SP |
unknown |
Abnormal mineralization group |
Hypophosphatasia, perinatal and infantile forms |
AR |
ALPL |