Sacral Agenesis With Vertebral Anomalies |
|
Absence of the sacrum, Abnormal vertebral morphology |
OMIM:615709 |
Spondylocamptodactyly Syndrome |
|
Scoliosis, Platyspondyly, Camptodactyly of finger |
ORPHA:3180 |
Spondyloepiphyseal Dysplasia, Maroteaux Type |
|
Platyspondyly, Genu valgum |
OMIM:184095 |
Familial Scheuermann Disease |
|
Abnormal form of the vertebral bodies, Kyphosis |
ORPHA:3135 |
Scheuermann Disease |
|
Morbus Scheuermann, Osteochondrosis, Kyphosis |
OMIM:181440 |
Brachyolmia Type 2 |
|
Platyspondyly |
OMIM:613678 |
Spondyloepiphyseal Dysplasia Tarda With Mental Retardation |
|
Platyspondyly, Anterior beaking of lumbar vertebrae |
OMIM:271620 |
Osteoarthritis With Mild Chondrodysplasia |
|
Heberden's node, Hip osteoarthritis, Schmorl's node, Irregular vertebral endplates, Beaking of ve... |
OMIM:604864 |
Spondyloepiphyseal Dysplasia Tarda, Kohn Type |
|
Abnormality of the ankles, Abnormality of the knee, Platyspondyly, Abnormal vertebral morphology |
ORPHA:163665 |
Cervical Vertebral Dysplasia |
|
Anterior atlanto-occipital dislocation, Cervical vertebral dysplasia, Cervical vertebral facet hy... |
OMIM:118005 |
Second Metatarsal-Metacarpal Syndrome |
|
Synostosis of carpals/tarsals, Platyspondyly |
OMIM:269630 |
Autosomal Dominant Brachyolmia |
|
Kyphoscoliosis, Platyspondyly, Increased vertebral height |
ORPHA:93304 |
Spondyloepiphyseal Dysplasia, Kimberley Type |
|
Genu varum, Platyspondyly, Genu valgum |
OMIM:608361 |
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type |
|
Intervertebral space narrowing, Genu varum, Irregular vertebral endplates, Platyspondyly, Genu va... |
OMIM:609223 |
Spondylocamptodactyly |
|
Cervical platyspondyly, Scoliosis, Camptodactyly of finger |
OMIM:600000 |
Brachyolmia, Maroteaux Type |
|
Abnormal form of the vertebral bodies, Scoliosis, Platyspondyly |
ORPHA:93302 |
Morquio Syndrome C |
|
Platyspondyly |
OMIM:252300 |
Spondyloepimetaphyseal Dysplasia, Di Rocco Type |
|
Delayed ossification of carpal bones, Genu varum, Platyspondyly, Irregular acetabular roof |
OMIM:617974 |
Epiphyseal Dysplasia, Multiple, 7 |
|
Genu varum, Vertebral wedging, Platyspondyly, Advanced ossification of carpal bones, Flat acetabu... |
OMIM:617719 |
Spondyloepiphyseal Dysplasia, Stanescu Type |
|
Beaking of vertebral bodies, Kyphoscoliosis, Platyspondyly |
OMIM:616583 |
Primary Basilar Invagination |
|
Short neck, Abnormality of the cervical spine, Abnormal vertebral morphology |
ORPHA:2285 |
Brachyolmia Type 1, Hobaek Type |
|
Flat acetabular roof, Intervertebral space narrowing, Sclerotic foci of metaphyses of the elbow, ... |
OMIM:271530 |
Pseudodiastrophic Dysplasia |
|
Elbow dislocation, Scoliosis, Platyspondyly, Phalangeal dislocation |
ORPHA:85174 |
Dysspondyloenchondromatosis |
|
Osteoarthritis, Kyphoscoliosis, Joint dislocation, Platyspondyly, Genu valgum, Anisospondyly, Enl... |
ORPHA:85198 |
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive |
|
Hip osteoarthritis, Osteoarthritis, Platyspondyly |
OMIM:271600 |
Spondylocostal Dysostosis 6, Autosomal Recessive |
|
Spinal canal stenosis, Butterfly vertebrae, Hemivertebrae, Cervical kyphosis, Scoliosis |
OMIM:616566 |
Galactosialidosis |
|
Abnormality of the vertebral column, Abnormal vertebral morphology |
ORPHA:351 |
Brachydactylous Dwarfism, Mseleni Type |
|
Hip osteoarthritis, Knee osteoarthritis, Platyspondyly, Abnormality of the wrist, Joint subluxati... |
ORPHA:2619 |
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type |
|
Genu varum, Scoliosis, Platyspondyly |
OMIM:618728 |
Osteogenesis Imperfecta With Opalescent Teeth, Blue Sclerae And Wormian Bones, But Without Fractures |
|
Biconcave flattened vertebrae, Wormian bones, Abnormal joint morphology |
OMIM:166230 |
Spondyloepiphyseal Dysplasia, Kimberley Type |
|
Osteoarthritis, Platyspondyly |
ORPHA:93283 |
Osteomesopyknosis |
|
Kyphosis, Abnormal form of the vertebral bodies, Scoliosis, Sclerotic vertebral body |
ORPHA:2777 |
Brachyolmia Type 1, Toledo Type |
|
Intervertebral space narrowing, Irregular vertebral endplates, Kyphoscoliosis, Back pain, Short n... |
OMIM:271630 |
Epiphyseal Dysplasia, Multiple, With Severe Proximal Femoral Dysplasia |
|
Irregularity of vertebral bodies, Platyspondyly, Genu valgum |
OMIM:609324 |
Gm1-Gangliosidosis, Type Iii |
|
Hypoplastic acetabulae, Platyspondyly, Kyphosis, Scoliosis, Anterior beaking of lumbar vertebrae |
OMIM:230650 |
Spondylometaphyseal Dysplasia, A4 Type |
|
Platyspondyly |
ORPHA:168555 |
Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes |
|
Kyphoscoliosis, Platyspondyly, Lumbar scoliosis, Irregular vertebral endplates |
OMIM:612847 |
Anauxetic Dysplasia 1 |
|
Short neck, Platyspondyly, Cervical subluxation, Delayed ossification of carpal bones |
OMIM:607095 |
Spondylosis, Cervical |
|
Spondylolysis, Spina bifida occulta, Spondylolisthesis, Cervical spondylosis, Osteoarthritis |
OMIM:184300 |
Multiple Epiphyseal Dysplasia Type 5 |
|
Abnormal acetabulum morphology, Genu varum, Abnormal hip joint morphology, Multiple small vertebr... |
ORPHA:93311 |
Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant |
|
Cervical subluxation, Irregular vertebral endplates, Kyphoscoliosis, Platyspondyly, Arthritis, Sh... |
OMIM:184100 |
Microcephalic Osteodysplastic Dysplasia, Saul-Wilson Type |
|
Irregularity of vertebral bodies, Hypoplasia of the odontoid process, Platyspondyly |
ORPHA:85172 |
Spondylocostal Dysostosis 3, Autosomal Recessive |
|
Kyphosis, Scoliosis, Hypoplasia of the odontoid process, Vertebral segmentation defect, Supernume... |
OMIM:609813 |
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly |
|
Multiple small vertebral fractures, Osteoporosis of vertebrae, Platyspondyly |
OMIM:156510 |
Acrodysplasia Scoliosis |
|
Vertebral segmentation defect, Scoliosis, Spina bifida occulta |
ORPHA:2956 |
Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant |
|
Premature osteoarthritis, Platyspondyly |
OMIM:184840 |
Spondyloepimetaphyseal Dysplasia, Handigodu Type |
|
Abnormality of the vertebral column, Abnormal intervertebral disk morphology, Abnormality of the ... |
ORPHA:99642 |
Pyle Disease |
|
Scoliosis, Platyspondyly, Limited elbow extension, Genu valgum |
OMIM:265900 |
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
|
Platyspondyly, Kyphosis |
ORPHA:2786 |
Bruck Syndrome 1 |
|
Ankle flexion contracture, Vertebral wedging, Platyspondyly, Knee flexion contracture, Kyphosis, ... |
OMIM:259450 |
Gm1-Gangliosidosis, Type Ii |
|
Platyspondyly |
OMIM:230600 |
Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Irregular acetabular roof, Kyphoscoliosis, Platyspondyly, Enlarged joints, Severe carpal ossifica... |
OMIM:184252 |
Progressive Pseudorheumatoid Arthropathy Of Childhood |
|
Irregularity of vertebral bodies, Abnormal hip joint morphology, Genu varum, Abnormality of the k... |
ORPHA:1159 |
Osteogenesis Imperfecta, Type V |
|
Biconcave vertebral bodies, Limited pronation/supination of forearm, Vertebral wedging, Wormian b... |
OMIM:610967 |
Spondylometaphyseal Dysplasia, X-Linked |
|
Platyspondyly, Knee flexion contracture, Kyphosis, Enlarged joints, Thoracolumbar scoliosis |
OMIM:313420 |
Atelosteogenesis, Type Ii |
|
Flat acetabular roof, Increased intervertebral space, Coronal cleft vertebrae, Horizontal sacrum,... |
OMIM:256050 |
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome |
|
Osteoarthritis, Abnormal intervertebral disk morphology, Platyspondyly |
ORPHA:1345 |
Progressive Pseudorheumatoid Dysplasia |
|
Genu varum, Decreased cervical spine mobility, Kyphoscoliosis, Enlarged interphalangeal joints, P... |
OMIM:208230 |
Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome |
|
Tarsal synostosis, Posterior fusion of lumbosacral vertebrae, Abnormal form of the vertebral bodi... |
ORPHA:2064 |
Spondylometaphyseal Dysplasia, Type A4 |
|
Irregular patellae, Flat acetabular roof, Platyspondyly, Ovoid vertebral bodies |
OMIM:609052 |
Spondylocostal Dysostosis 2, Autosomal Recessive |
|
Vertebral clefting, Short neck, Vertebral segmentation defect, Hemivertebrae |
OMIM:608681 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3 |
|
Knee dislocation, Irregular vertebral endplates, Multiple joint dislocation, Platyspondyly, Dislo... |
OMIM:618395 |
Pseudodiastrophic Dysplasia |
|
Tongue-like lumbar vertebral deformities, Phalangeal dislocation, Platyspondyly, Elbow dislocatio... |
OMIM:264180 |
Spondyloepiphyseal Dysplasia, Myopia, And Sensorineural Deafness |
|
Lumbar hyperlordosis, Short neck, Platyspondyly |
OMIM:184000 |
Pseudoachondroplasia |
|
Flat acetabular roof, Genu varum, Increased laxity of ankles, Irregular acetabular roof, Beaking ... |
ORPHA:750 |
Dental Anomalies And Short Stature |
|
Narrow vertebral interpedicular distance, Intervertebral space narrowing, Platyspondyly, Herniati... |
OMIM:601216 |
Alkaptonuria |
|
Vertebral fusion, Intervertebral disc degeneration, Arthritis, Kyphosis, Arthropathy, Limitation ... |
OMIM:203500 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity |
|
Abnormality of the elbow, Abnormal vertebral morphology, Beaking of vertebral bodies, Kyphoscolio... |
ORPHA:93359 |
Sillence Syndrome |
|
Flat acetabular roof, Abnormal vertebral morphology, Intervertebral disc degeneration, Platyspond... |
ORPHA:3168 |
Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Capitate-hamate fusion, Platyspondyly, Genu valgum, Hypoplastic sacrum, Limited elbow extension, ... |
OMIM:271650 |
Osteogenesis Imperfecta, Type Ix |
|
Wormian bones, Scoliosis, Platyspondyly, Kyphosis |
OMIM:259440 |
Metatropic Dysplasia |
|
Long coccyx, Platyspondyly, Kyphosis, Relatively short spine, Anisospondyly, Caudal appendage, En... |
OMIM:156530 |
Ollier Disease |
|
Abnormal cartilage morphology, Platyspondyly, Multiple enchondromatosis |
ORPHA:296 |
Spondyloepiphyseal Dysplasia Tarda |
|
Knee osteoarthritis, Abnormal lumbar spine morphology, Premature osteoarthritis, Limited elbow mo... |
ORPHA:93284 |
Spondylometaphyseal Dysplasia, Schmidt Type |
|
Abnormality of the vertebral column, Abnormality of the knee, Irregular acetabular roof, Kyphosco... |
ORPHA:93316 |
Osteogenesis Imperfecta, Type Vi |
|
Biconcave vertebral bodies, Vertebral compression fracture, Beaking of vertebral bodies, Protrusi... |
OMIM:613982 |
Spondylometaphyseal Dysplasia, Axial |
|
Platyspondyly |
OMIM:602271 |
Spondylocostal Dysostosis 1, Autosomal Recessive |
|
Abnormality of the odontoid process, Vertebral fusion, Hemivertebrae, Kyphoscoliosis, Back pain, ... |
OMIM:277300 |
Brachyolmia Type 3 |
|
Short neck, Scoliosis, Platyspondyly, Kyphosis |
OMIM:113500 |
Rhizomelic Dysplasia, Patterson-Lowry Type |
|
Platyspondyly |
OMIM:601438 |
Bruck Syndrome |
|
Wormian bones, Platyspondyly, Kyphosis, Pterygium, Scoliosis |
ORPHA:2771 |
Spondyloepiphyseal Dysplasia Tarda, X-Linked |
|
Hip osteoarthritis, Platyspondyly, Kyphosis, Short neck, Scoliosis, Lumbar hyperlordosis, Hump-sh... |
OMIM:313400 |
Greenberg Dysplasia |
|
Abnormally ossified vertebrae, Abnormal form of the vertebral bodies, Platyspondyly |
ORPHA:1426 |
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type |
|
Wide anterior fontanel, Wormian bones, Platyspondyly |
OMIM:601356 |
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome |
|
Platyspondyly |
ORPHA:71267 |
Microspherophakia-Metaphyseal Dysplasia |
|
Flattened moderately deformed vertebrae, Spinal stenosis with reduced interpedicular distance |
OMIM:157151 |
Rhizomelic Dysplasia, Ain-Naz Type |
|
Platyspondyly |
OMIM:619598 |
Dyssegmental Dysplasia With Glaucoma |
|
Wide anterior fontanel, Platyspondyly, Elbow flexion contracture |
OMIM:601561 |
Multiple Epiphyseal Dysplasia, Beighton Type |
|
Biconcave vertebral bodies, Abnormal acetabulum morphology, Intervertebral space narrowing, Lumba... |
ORPHA:166011 |
Osteogenesis Imperfecta, Type Xv |
|
Scoliosis, Platyspondyly |
OMIM:615220 |
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type |
|
Platyspondyly, Ovoid vertebral bodies, Limited elbow extension, Flat acetabular roof, Lumbar hype... |
OMIM:608728 |
Metaphyseal Chondrodysplasia, Schmid Type |
|
Genu varum, Irregular acetabular roof, Irregular vertebral endplates, Distal tibial bowing, Platy... |
OMIM:156500 |
Hall-Riggs Mental Retardation Syndrome |
|
Kyphosis, Scoliosis, Platyspondyly, Irregular vertebral endplates |
OMIM:234250 |
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness |
|
Flat acetabular roof, Irregular vertebral endplates, Beaking of vertebral bodies, Platyspondyly, ... |
OMIM:609616 |
Autosomal Recessive Stickler Syndrome |
|
Genu valgum, Platyspondyly, Irregular vertebral endplates |
ORPHA:250984 |
Spondyloepimetaphyseal Dysplasia With Abnormal Dentition |
|
Joint contracture of the 5th finger, Genu valgum, Platyspondyly, Irregular vertebral endplates |
OMIM:601668 |
Osteogenesis Imperfecta, Type Xvii |
|
Vertebral compression fracture, Scoliosis, Platyspondyly |
OMIM:616507 |
Bruck Syndrome 2 |
|
Wormian bones, Knee flexion contracture, Platyspondyly, Pterygium, Elbow flexion contracture |
OMIM:609220 |
Spondylometaphyseal Dysplasia, Pagnamenta Type |
|
Wormian bones, Thoracic kyphosis, Platyspondyly |
OMIM:619638 |
Spondyloperipheral Dysplasia-Short Ulna Syndrome |
|
Abnormal hip joint morphology, Platyspondyly, Ovoid vertebral bodies, Limited elbow extension, Ab... |
ORPHA:1856 |
Osteogenesis Imperfecta, Type Xiii |
|
Kyphoscoliosis, Dislocated radial head, Wormian bones, Platyspondyly, Scoliosis |
OMIM:614856 |
Smith-Mccort Dysplasia 1 |
|
Genu varum, Beaking of vertebral bodies, Hypoplastic acetabulae, Platyspondyly, Atlantoaxial inst... |
OMIM:607326 |
Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Genu varum, Platyspondyly, Vertebral hypoplasia, Central vertebral hypoplasia, Narrow vertebral i... |
OMIM:602557 |
Spondyloepimetaphyseal Dysplasia, Strudwick Type |
|
C1-C2 subluxation, Platyspondyly, Genu valgum, Hyperlordosis, Hypoplasia of the odontoid process,... |
OMIM:184250 |
Stickler Syndrome Type 1 |
|
Osteoarthritis, Platyspondyly, Abnormality of vertebral epiphysis morphology |
ORPHA:90653 |
Spondylometaphyseal Dysplasia With Corneal Dystrophy |
|
Beaking of vertebral bodies, Lumbar platyspondyly, Increased intervertebral space, Thoracic platy... |
OMIM:618961 |
Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Abnormality of the vertebral column, Cervical platyspondyly, Flat acetabular roof, Genu varum, In... |
ORPHA:93314 |
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type |
|
Cervical instability, Abnormal vertebral morphology, Platyspondyly, Delayed ossification of carpa... |
ORPHA:93346 |
Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Abnormal joint morphology, Synostosis of carpal bones, Platyspondyly, Genu valgum, Osteoarthritis... |
ORPHA:93351 |
Patterson Pseudoleprechaunism Syndrome |
|
Ovoid thoracolumbar vertebrae, Cervical platyspondyly, Irregular acetabular roof, Kyphoscoliosis,... |
OMIM:169170 |
Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Genu varum, Abnormal vertebral morphology, Platyspondyly, Central vertebral hypoplasia, Vertebral... |
ORPHA:93352 |
Calvarial Doughnut Lesions With Bone Fragility |
|
Scoliosis, Platyspondyly |
OMIM:126550 |
Hyperekplexia 3 |
|
Exaggerated startle response |
OMIM:614618 |
Spondyloepiphyseal Dysplasia, Nishimura Type |
|
Abnormality of the elbow, Platyspondyly, Abnormality of cranial sutures, Ovoid vertebral bodies, ... |
ORPHA:163649 |
Lethal Kniest-Like Dysplasia |
|
Abnormal cartilage matrix, Coronal cleft vertebrae, Hypoplastic vertebral bodies, Platyspondyly, ... |
ORPHA:2347 |
Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Genu varum, Pear-shaped vertebrae, Platyspondyly, Limited elbow extension, Irregular sclerotic en... |
OMIM:602111 |
Combined Oxidative Phosphorylation Deficiency 47 |
|
Short neck, Platyspondyly |
OMIM:618958 |
Kniest-Like Dysplasia With Pursed Lips And Ectopia Lentis |
|
Short neck, Platyspondyly, Cervical kyphosis |
OMIM:245160 |
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density |
|
Absent ossification of cervical vertebral bodies, Lumbar platyspondyly, Absent ossification of th... |
OMIM:601376 |
Pseudoachondroplasia |
|
Genu varum, Beaking of vertebral bodies, Osteoarthritis, Irregular carpal bones, Platyspondyly, G... |
OMIM:177170 |
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2 |
|
Kyphoscoliosis, Platyspondyly, Hip dislocation, Carpal synostosis, Advanced ossification of carpa... |
OMIM:615349 |
Geroderma Osteodysplastica |
|
Biconcave vertebral bodies, Beaking of vertebral bodies, Abnormal form of the vertebral bodies, P... |
ORPHA:2078 |
Chondroectodermal Dysplasia With Night Blindness |
|
Abnormal patella morphology, Abnormality of the knee, Platyspondyly |
ORPHA:319195 |
Spondyloepimetaphyseal Dysplasia With Multiple Dislocations |
|
Abnormality of the curvature of the vertebral column, Genu varum, Multiple joint dislocation, Kyp... |
ORPHA:93360 |
Slc39A13-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Platyspondyly |
ORPHA:157965 |
Geroderma Osteodysplasticum |
|
Biconcave vertebral bodies, Irregular vertebral endplates, Beaking of vertebral bodies, Kyphoscol... |
OMIM:231070 |
Stickler Syndrome, Type I |
|
Morbus Scheuermann, Beaking of vertebral bodies, Platyspondyly, Kyphosis, Spondylolisthesis, Arth... |
OMIM:108300 |
Osteogenesis Imperfecta, Type Xxi |
|
Wormian bones, Scoliosis, Platyspondyly |
OMIM:619131 |
Kniest Dysplasia |
|
Coronal cleft vertebrae, Platyspondyly, Hip dislocation, Abnormal cartilage collagen, Enlarged jo... |
OMIM:156550 |
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy |
|
Severe platyspondyly, Scoliosis, Platyspondyly, Ovoid vertebral bodies |
OMIM:608940 |
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Short neck, Platyspondyly |
ORPHA:93267 |
Developmental And Epileptic Encephalopathy 8 |
|
Exaggerated startle response |
OMIM:300607 |
Dyggve-Melchior-Clausen Syndrome, X-Linked |
|
Platyspondyly, Genu valgum, Carpal bone hypoplasia, Thoracic kyphosis, Hypoplastic sacrum, Short ... |
OMIM:304950 |
Fibrochondrogenesis 2 |
|
Platyspondyly |
OMIM:614524 |
Spondyloepiphyseal Dysplasia Congenita |
|
Limited elbow movement, Platyspondyly, Atlantoaxial instability, Kyphosis, Ovoid vertebral bodies... |
OMIM:183900 |
Mucopolysaccharidosis, Type Iva |
|
Cervical subluxation, Platyspondyly, Large elbow, Ovoid vertebral bodies, Kyphosis, Genu valgum, ... |
OMIM:253000 |
Odontochondrodysplasia 1 |
|
Flat acetabular roof, Genu varum, Coronal cleft vertebrae, Platyspondyly, Genu recurvatum, Scolio... |
OMIM:184260 |
Kniest Dysplasia |
|
Coronal cleft vertebrae, Vertebral wedging, Abnormal joint morphology, Platyspondyly, Fused cervi... |
ORPHA:485 |
Otospondylomegaepiphyseal Dysplasia |
|
Coronal cleft vertebrae, Abnormal joint morphology, Abnormal vertebral morphology, Osteoarthritis... |
ORPHA:1427 |
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type |
|
Short neck, Severe platyspondyly, Flat acetabular roof, Disc-like vertebral bodies |
OMIM:151210 |
Thanatophoric Dysplasia, Type Ii |
|
Platyspondyly |
OMIM:187601 |
Infantile Liver Failure Syndrome 3 |
|
Beaking of vertebral bodies, Abnormal acetabulum morphology, Platyspondyly, Hypoplastic vertebral... |
OMIM:618641 |
Odontochondrodysplasia |
|
Scoliosis, Platyspondyly |
ORPHA:166272 |
Smith-Mccort Dysplasia 2 |
|
Short neck, Hypoplasia of the odontoid process, Platyspondyly, Genu valgum |
OMIM:615222 |
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive |
|
Coronal cleft vertebrae, Beaking of vertebral bodies, Platyspondyly, Enlarged joints, Premature o... |
OMIM:215150 |
Spondylo-Ocular Syndrome |
|
Short neck, Abnormal intervertebral disk morphology, Thoracic kyphosis, Platyspondyly |
ORPHA:85194 |
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3 |
|
Irregular vertebral endplates, Kyphoscoliosis, Joint contracture of the hand, Platyspondyly, Disl... |
OMIM:612350 |
Spondyloepiphyseal Dysplasia Congenita |
|
Flat acetabular roof, Cervical instability, Limited elbow movement, Platyspondyly, Back pain, Kyp... |
ORPHA:94068 |
Cole-Carpenter Syndrome 2 |
|
Wormian bones, Platyspondyly, Kyphosis, Coronal craniosynostosis, Lambdoidal craniosynostosis |
OMIM:616294 |
Dyggve-Melchior-Clausen Disease |
|
Abnormality of the vertebral column, Beaking of vertebral bodies, Hypoplastic acetabulae, Broad c... |
ORPHA:239 |
Mucopolysaccharidosis, Type Ivb |
|
Cervical subluxation, Platyspondyly, Ovoid vertebral bodies, Kyphosis, Genu valgum, Hyperlordosis... |
OMIM:253010 |
Metaphyseal Chondrodysplasia, Schmid Type |
|
Genu varum, Abnormal vertebral morphology, Irregular vertebral endplates, Platyspondyly, Lumbar h... |
ORPHA:174 |
Lowry-Wood Syndrome |
|
Elbow dislocation, Dislocated radial head, Platyspondyly, Patellar dislocation |
ORPHA:1824 |
Dysosteosclerosis |
|
Hypoplastic vertebral bodies, Platyspondyly, Irregular vertebral endplates |
ORPHA:1782 |
Desbuquois Dysplasia 1 |
|
Flat acetabular roof, Genu varum, Radioulnar dislocation, Platyspondyly, Joint dislocation, Kypho... |
OMIM:251450 |
Metaphyseal Acroscyphodysplasia |
|
Biconcave vertebral bodies, Genu varum, Craniosynostosis, Platyspondyly, Hypoplasia of the odonto... |
OMIM:250215 |
Saul-Wilson Syndrome |
|
Wide anterior fontanel, Platyspondyly |
OMIM:618150 |
Czech Dysplasia |
|
Intervertebral space narrowing, Irregular vertebral endplates, Platyspondyly, Thoracic kyphosis, ... |
OMIM:609162 |
Cantu Syndrome |
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Short neck, Platyspondyly, Cuboid-shaped vertebral bodies, Ovoid vertebral bodies |
OMIM:239850 |
Axial Spondylometaphyseal Dysplasia |
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Flat acetabular roof, Posterior wedging of vertebral bodies, Aplasia/Hypoplasia of the vertebrae,... |
ORPHA:168549 |
Thanatophoric Dysplasia |
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Abnormal sacroiliac joint morphology, Platyspondyly, Kyphosis |
ORPHA:2655 |
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans |
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Lumbar hyperlordosis, Wide anterior fontanel, Platyspondyly, Kyphosis |
OMIM:616482 |
Anauxetic Dysplasia 3 |
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Beaking of vertebral bodies, Platyspondyly, Genu valgum, Hip subluxation, Wide anterior fontanel,... |
OMIM:618853 |
Mucopolysaccharidosis Type 4 |
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Spinal canal stenosis, Joint dislocation, Platyspondyly, Kyphosis, Genu valgum, Hyperlordosis, Sh... |
ORPHA:582 |
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus |
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Irregular vertebral endplates, Irregular carpal bones, Platyspondyly, Genu valgum, Hip dislocatio... |
OMIM:226980 |
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
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Platyspondyly |
OMIM:300863 |
Spondyloepimetaphyseal Dysplasia, Aggrecan Type |
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Lumbar hyperlordosis, Short neck, Platyspondyly |
OMIM:612813 |
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type |
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Biconcave vertebral bodies, Intervertebral space narrowing, Genu varum, Vertebral fusion, Vertebr... |
ORPHA:93315 |
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type |
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Short neck, Craniosynostosis, Thoracolumbar scoliosis, Platyspondyly |
OMIM:616723 |
Hypophosphatasia, Infantile |
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Craniosynostosis, Unossified vertebral bodies, Platyspondyly, Widely patent fontanelles and sutur... |
OMIM:241500 |
Platyspondylic Dysplasia, Torrance Type |
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Genu varum, Abnormality of the carpal bones, Platyspondyly |
ORPHA:85166 |
Schwartz-Jampel Syndrome, Type 1 |
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Coronal cleft vertebrae, Flexion contracture of toe, Kyphoscoliosis, Platyspondyly, Joint contrac... |
OMIM:255800 |
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy |
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Platyspondyly, Wormian bones, Thoracic kyphosis, Short neck, Hypoplasia of the odontoid process |
OMIM:300232 |
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
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Dysplastic sacrum, Short neck, Severe platyspondyly, Wormian bones |
OMIM:613320 |
Schimke Immunoosseous Dysplasia |
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Platyspondyly, Ovoid vertebral bodies, Shallow acetabular fossae, Thoracic kyphosis, Short neck, ... |
OMIM:242900 |
Thanatophoric Dysplasia Type 2 |
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Platyspondyly, Kyphosis |
ORPHA:93274 |
Osteogenesis Imperfecta, Type Iv |
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Biconcave flattened vertebrae, Scoliosis, Wormian bones, Kyphosis |
OMIM:166220 |
Hall-Riggs Syndrome |
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Scoliosis, Platyspondyly |
ORPHA:2107 |
Spondylometaphyseal Dysplasia, Algerian Type |
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Kyphoscoliosis, Platyspondyly, Genu valgum, Carpal bone hypoplasia, Lumbar hyperlordosis |
OMIM:184253 |
Osteogenesis Imperfecta, Type Viii |
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Platyspondyly, Wormian bones, Kyphosis, Vertebral compression fracture, Wide anterior fontanel, D... |
OMIM:610915 |
Osteogenesis Imperfecta, Type Ii |
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Wormian bones, Platyspondyly |
OMIM:166210 |
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
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Platyspondyly, Kyphosis |
OMIM:618476 |
Mucopolysaccharidosis, Type Vii |
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Anterior beaking of lower thoracic vertebrae, Platyspondyly, Thoracolumbar kyphosis, Kyphosis, Ge... |
OMIM:253220 |
Atelosteogenesis Type I |
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Absent or minimally ossified vertebral bodies, Coronal cleft vertebrae, Joint dislocation, Platys... |
ORPHA:1190 |
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities |
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Cervical instability, Kyphoscoliosis, Dislocated radial head, Platyspondyly, Delayed ossification... |
OMIM:617425 |
Spondyloepimetaphyseal Dysplasia, Sponastrime Type |
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Biconcave vertebral bodies, Genu varum, Kyphoscoliosis, Platyspondyly, Genu valgum, Delayed ossif... |
OMIM:271510 |
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
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Platyspondyly |
ORPHA:163966 |
Dyggve-Melchior-Clausen Disease |
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Flat acetabular roof, Genu varum, Beaking of vertebral bodies, Platyspondyly, Kyphosis, Genu valg... |
OMIM:223800 |
Spondyloperipheral Dysplasia |
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Platyspondyly, Kyphosis, Limited elbow extension, Flat acetabular roof, Acetabular spurs |
OMIM:271700 |
Osteogenesis Imperfecta, Type X |
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Vertebral compression fracture, Scoliosis, Platyspondyly, Genu valgum |
OMIM:613848 |
Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies |
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Cervical platyspondyly, Scoliosis |
OMIM:618731 |
Desbuquois Dysplasia 2 |
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Knee dislocation, Genu varum, Platyspondyly, Hip dislocation, Advanced ossification of carpal bon... |
OMIM:615777 |
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome |
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Abnormality of the knee, Beaking of vertebral bodies, Kyphoscoliosis, Cubitus valgus, Craniosynos... |
ORPHA:457395 |
Thanatophoric Dysplasia, Type I |
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Severe platyspondyly |
OMIM:187600 |
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech |
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Cubitus valgus, Platyspondyly, Cuboid-shaped vertebral bodies, Anterior scalloping of vertebral b... |
OMIM:611717 |
Acromesomelic Dysplasia 4 |
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Genu varum, Beaking of vertebral bodies, Platyspondyly, Genu valgum, Thoracic platyspondyly, Thor... |
OMIM:619636 |
Kniest-Like Dysplasia, Lethal |
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Coronal cleft vertebrae, Platyspondyly, Wide anterior fontanel, Hypoplastic vertebral bodies, Sho... |
OMIM:245190 |
Fibrochondrogenesis 1 |
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Posterior vertebral hypoplasia, Joint contracture of the hand, Platyspondyly, Wide anterior fonta... |
OMIM:228520 |
Thanatophoric Dysplasia Type 1 |
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Abnormal sacroiliac joint morphology, Wide anterior fontanel, Platyspondyly, Kyphosis |
ORPHA:1860 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
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Short neck, Wormian bones, Platyspondyly |
OMIM:616897 |
Spondyloenchondrodysplasia With Immune Dysregulation |
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Increased intervertebral space, Irregular vertebral endplates, Kyphoscoliosis, Platyspondyly, Joi... |
OMIM:607944 |
Hypertrichotic Osteochondrodysplasia, Cantu Type |
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Short neck, Platyspondyly, Cuboid-shaped vertebral bodies, Ovoid vertebral bodies |
ORPHA:1517 |
Bone Fragility With Contractures, Arterial Rupture, And Deafness |
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Scoliosis, Platyspondyly, Elbow flexion contracture |
OMIM:612394 |
Hyperekplexia 2 |
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Exaggerated startle response |
OMIM:614619 |
Aneurysm-Osteoarthritis Syndrome |
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Knee osteoarthritis, Intervertebral disc degeneration, Osteoarthritis of the small joints of the ... |
ORPHA:284984 |
Short-Rib Thoracic Dysplasia 18 With Polydactyly |
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Platyspondyly, Vertebral wedging |
OMIM:617866 |
Hyperekplexia-Epilepsy Syndrome |
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Exaggerated startle response |
ORPHA:163985 |
Opsismodysplasia |
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Severe platyspondyly, Scoliosis, Hypoplastic vertebral bodies, Short neck, Flat acetabular roof |
OMIM:258480 |
Trisomy 20P |
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Abnormal form of the vertebral bodies, Platyspondyly, Kyphosis, Camptodactyly of finger, Short ne... |
ORPHA:261318 |
Dysosteosclerosis |
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Increased intervertebral space, Delayed closure of the anterior fontanelle, Irregular vertebral e... |
OMIM:224300 |
Gm1 Gangliosidosis |
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Abnormal form of the vertebral bodies, Platyspondyly, Kyphosis, Hyperlordosis, Camptodactyly of f... |
ORPHA:354 |
Schimke Immuno-Osseous Dysplasia |
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Platyspondyly, Ovoid vertebral bodies, Shallow acetabular fossae, Short neck, Lumbar hyperlordosis |
ORPHA:1830 |
Fucosidosis |
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Cervical platyspondyly, Anterior beaking of thoracic vertebrae, Scoliosis, Lumbar hyperlordosis, ... |
OMIM:230000 |
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
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Congenital kyphoscoliosis, Beaking of vertebral bodies, Multiple joint dislocation, Kyphoscoliosi... |
ORPHA:536467 |
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
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Knee dislocation, Multiple joint dislocation, Craniosynostosis, Shoulder dislocation, Platyspondy... |
OMIM:245600 |
Osteogenesis Imperfecta, Type I |
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Biconcave flattened vertebrae, Wormian bones |
OMIM:166200 |
Atelosteogenesis, Type I |
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Knee dislocation, Coronal cleft vertebrae, Multinucleated giant chondrocytes in epiphyseal cartil... |
OMIM:108720 |
Odontochondrodysplasia 2 With Hearing Loss And Diabetes |
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Large knee, Scoliosis, Platyspondyly |
OMIM:619269 |
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
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Increased intervertebral space, Cervical instability, Craniosynostosis, Abnormality of the cervic... |
ORPHA:508533 |
Spondyloepimetaphyseal Dysplasia, Genevieve Type |
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Irregular vertebral endplates, Platyspondyly, Short neck, Flat acetabular roof, Carpal bone hypop... |
OMIM:610442 |
Spondyloenchondrodysplasia |
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Arthritis, Juvenile rheumatoid arthritis, Platyspondyly, Kyphosis |
ORPHA:1855 |
Gm1 Gangliosidosis Type 1 |
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Beaking of vertebral bodies T12-L3, Platyspondyly, Acetabular dysplasia, Hypoplastic vertebral bo... |
ORPHA:79255 |
Greenberg Dysplasia |
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Costal cartilage calcification, Absent or minimally ossified vertebral bodies, Abnormal joint mor... |
OMIM:215140 |
Loeys-Dietz Syndrome 3 |
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Hip osteoarthritis, Knee osteoarthritis, Intervertebral disc degeneration, Craniosynostosis, Spon... |
OMIM:613795 |
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
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Scoliosis, Platyspondyly, Ovoid vertebral bodies |
ORPHA:85167 |
Otopalatodigital Syndrome, Type Ii |
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Spondylolysis, Delayed closure of the anterior fontanelle, Wormian bones, Platyspondyly, Congenit... |
OMIM:304120 |
Osteoporosis-Pseudoglioma Syndrome |
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Kyphoscoliosis, Platyspondyly |
OMIM:259770 |
Spondylodysplastic Ehlers-Danlos Syndrome |
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Coronal cleft vertebrae, Abnormality of the elbow, Abnormal vertebral morphology, Beaking of vert... |
ORPHA:536471 |
Occipital Horn Syndrome |
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Capitate-hamate fusion, Limited knee extension, Platyspondyly, Genu valgum, Kyphosis, Limited elb... |
OMIM:304150 |
Developmental And Epileptic Encephalopathy 68 |
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Exaggerated startle response |
OMIM:618201 |
Schwartz-Jampel Syndrome |
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Flexion contracture of toe, Abnormally straight spine, Platyspondyly, Wormian bones, Kyphosis, Ge... |
ORPHA:800 |
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination |
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Exaggerated startle response |
OMIM:618367 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures |
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Irregular vertebral endplates, Kyphoscoliosis, Platyspondyly, Dislocated radial head, Ovoid verte... |
OMIM:271640 |
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type |
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C1-C2 subluxation, Abnormal calcification of the carpal bones, Platyspondyly, Atlantoaxial instab... |
OMIM:271665 |
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1 |
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Progressive congenital scoliosis, Kyphoscoliosis, Joint dislocation, Platyspondyly, Congenital hi... |
OMIM:225400 |
Marshall Syndrome |
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Platyspondyly |
OMIM:154780 |
Skeletal Dysplasia And Progressive Central Nervous System Degeneration, Lethal |
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Short neck, Wafer-thin platyspondyly |
OMIM:602613 |
Kyphomelic Dysplasia |
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Flat acetabular roof, Platyspondyly, Pterygium |
OMIM:211350 |
Spastic Paraplegia, Optic Atrophy, And Neuropathy |
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Exaggerated startle response |
OMIM:609541 |
Spondyloepimetaphyseal Dysplasia, X-Linked |
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Platyspondyly, Kyphosis, Anterior wedging of T12, Limited elbow extension, Delayed ossification o... |
OMIM:300106 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
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Platyspondyly |
OMIM:102700 |
Osteoglophonic Dysplasia |
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Short neck, Craniosynostosis, Platyspondyly |
OMIM:166250 |
Spastic Tetraplegia And Axial Hypotonia, Progressive |
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Exaggerated startle response |
OMIM:618598 |
Spondylometaphyseal Dysplasia, Sedaghatian Type |
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Platyspondyly |
ORPHA:93317 |
Atypical Werner Syndrome |
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Intervertebral disc degeneration, Chondrocalcinosis |
ORPHA:79474 |
Hyperekplexia 1 |
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Exaggerated startle response |
OMIM:149400 |
Stiff Person Spectrum Disorder |
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Exaggerated startle response |
ORPHA:3198 |
Tay-Sachs Disease |
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Exaggerated startle response |
OMIM:272800 |
Sponastrime Dysplasia |
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Abnormality of the vertebral column, Biconcave vertebral bodies, Kyphoscoliosis, Hyperconvex vert... |
ORPHA:93357 |
Blomstrand Lethal Chondrodysplasia |
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Synostosis of joints, Platyspondyly |
ORPHA:50945 |
Stickler Syndrome |
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Spinal canal stenosis, Abnormal form of the vertebral bodies, Joint dislocation, Platyspondyly, K... |
ORPHA:828 |
Aspartylglucosaminuria |
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Spondylolysis, Beaking of vertebral bodies, Platyspondyly, Kyphosis, Spondylolisthesis, Scoliosis |
OMIM:208400 |
Lowe Oculocerebrorenal Syndrome |
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Wrist swelling, Joint contracture of the hand, Platyspondyly, Kyphosis, Genu valgum, Hip dislocat... |
OMIM:309000 |
Occipital Horn Syndrome |
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Platyspondyly, Kyphosis, Synostosis of joints, Hip dislocation, Abnormality of the wrist, Genu va... |
ORPHA:198 |
Alpha-Mannosidosis, Infantile Form |
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Craniosynostosis, Platyspondyly, Genu valgum, Talipes valgus, Short neck |
ORPHA:309282 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
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Platyspondyly, Knee flexion contracture, Cleft vertebral arch, Hip dislocation, Absent knee epiph... |
OMIM:210710 |
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome |
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Exaggerated startle response |
ORPHA:320406 |
Stiff-Person Syndrome |
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Opisthotonus, Exaggerated startle response |
OMIM:184850 |
Gm2 Gangliosidosis, Ab Variant |
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Exaggerated startle response |
ORPHA:309246 |
Myhre Syndrome |
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Platyspondyly |
ORPHA:2588 |
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
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Platyspondyly |
OMIM:263520 |
Myhre Syndrome |
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Platyspondyly, Enlarged vertebral pedicles, Short neck, Vertebral fusion |
OMIM:139210 |
Spondylometaphyseal Dysplasia, Sedaghatian Type |
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Short neck, Flat acetabular roof, Platyspondyly |
OMIM:250220 |
Gm2-Gangliosidosis, Ab Variant |
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Exaggerated startle response |
OMIM:272750 |
Asparagine Synthetase Deficiency |
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Exaggerated startle response |
OMIM:615574 |
Oculocerebrorenal Syndrome Of Lowe |
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Arthritis, Platyspondyly, Genu valgum, Kyphosis, Hip dislocation, Patellar dislocation, Scoliosis... |
ORPHA:534 |
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria |
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Genu varum, Abnormal joint morphology, Irregular vertebral endplates, Broad carpal bones, Platysp... |
ORPHA:99646 |
Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Limb tremor, Exaggerated startle response |
OMIM:608643 |
Fontaine Progeroid Syndrome |
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Craniosynostosis, Platyspondyly, Wide anterior fontanel, Coronal craniosynostosis, Scoliosis |
OMIM:612289 |
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
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Abnormality of the vertebral column, Abnormal vertebral morphology, Platyspondyly, Kyphosis, Camp... |
ORPHA:2273 |
Glycine Encephalopathy With Normal Serum Glycine |
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Exaggerated startle response |
OMIM:617301 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation |
|
Exaggerated startle response |
ORPHA:438216 |
Sandhoff Disease |
|
Exaggerated startle response |
OMIM:268800 |
Tay-Sachs Disease |
|
Tremor, Exaggerated startle response |
ORPHA:845 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Exaggerated startle response |
OMIM:253800 |
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
|
Exaggerated startle response |
OMIM:617527 |
Plaa-Associated Neurodevelopmental Disorder |
|
Exaggerated startle response |
ORPHA:521426 |
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
|
Exaggerated startle response |
OMIM:619522 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
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Exaggerated startle response |
ORPHA:438213 |
Pmm2-Cdg |
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Kyphoscoliosis, Platyspondyly |
ORPHA:79318 |