Scheuermann Disease |
|
Kyphosis, Osteochondrosis, Morbus Scheuermann |
OMIM:181440 |
Spondylocamptodactyly Syndrome |
|
Platyspondyly, Camptodactyly of finger, Scoliosis |
ORPHA:3180 |
Spondyloepiphyseal Dysplasia, Maroteaux Type |
|
Platyspondyly, Genu valgum |
OMIM:184095 |
Cervical Vertebral Dysplasia |
|
Cervical vertebral dysplasia, Cervical vertebral facet hypoplasia, Anterior atlanto-occipital dis... |
OMIM:118005 |
Spondyloepiphyseal Dysplasia Tarda With Mental Retardation |
|
Platyspondyly, Anterior beaking of lumbar vertebrae |
OMIM:271620 |
Osteoarthritis With Mild Chondrodysplasia |
|
Heberden's node, Knee osteoarthritis, Schmorl's node, Irregular vertebral endplates, Platyspondyl... |
OMIM:604864 |
Brachyolmia Type 2 |
|
Platyspondyly |
OMIM:613678 |
Spondyloepiphyseal Dysplasia Tarda, Kohn Type |
|
Abnormality of the knee, Platyspondyly, Abnormal vertebral morphology, Abnormality of the ankle |
ORPHA:163665 |
Autosomal Dominant Brachyolmia |
|
Increased vertebral height, Platyspondyly, Kyphoscoliosis |
ORPHA:93304 |
Second Metatarsal-Metacarpal Syndrome |
|
Platyspondyly, Synostosis of carpals/tarsals |
OMIM:269630 |
Spondyloepiphyseal Dysplasia, Kimberley Type |
|
Platyspondyly, Genu varum, Genu valgum |
OMIM:608361 |
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type |
|
Lumbar hyperlordosis, Genu valgum, Irregular vertebral endplates, Platyspondyly, Thoracic kyphosi... |
OMIM:609223 |
Brachyolmia, Maroteaux Type |
|
Platyspondyly, Scoliosis, Abnormal form of the vertebral bodies |
ORPHA:93302 |
Primary Basilar Invagination |
|
Abnormality of the cervical spine, Abnormal vertebral morphology, Short neck |
ORPHA:2285 |
Morquio Syndrome C |
|
Platyspondyly |
OMIM:252300 |
Epiphyseal Dysplasia, Multiple, 7 |
|
Advanced ossification of carpal bones, Flat acetabular roof, Vertebral wedging, Platyspondyly, Ge... |
OMIM:617719 |
Brachyolmia Type 1, Hobaek Type |
|
Back pain, Sclerotic foci of metaphyses of the elbow, Short neck, Kyphosis, Flat acetabular roof,... |
OMIM:271530 |
Pseudodiastrophic Dysplasia |
|
Elbow dislocation, Platyspondyly, Phalangeal dislocation, Scoliosis |
ORPHA:85174 |
Dysspondyloenchondromatosis |
|
Joint dislocation, Enlarged joints, Kyphoscoliosis, Osteoarthritis, Genu valgum, Multiple enchond... |
ORPHA:85198 |
Galactosialidosis |
|
Abnormality of the vertebral column, Abnormal vertebral morphology |
ORPHA:351 |
Spondylocostal Dysostosis 6, Autosomal Recessive |
|
Cervical kyphosis, Hemivertebrae, Spinal canal stenosis, Scoliosis, Butterfly vertebrae |
OMIM:616566 |
Spondyloepiphyseal Dysplasia, Stanescu Type |
|
Beaking of vertebral bodies, Vertebral wedging, Platyspondyly, Kyphoscoliosis |
OMIM:616583 |
Spondyloepimetaphyseal Dysplasia, Di Rocco Type |
|
Irregular acetabular roof, Platyspondyly, Delayed ossification of carpal bones, Genu varum |
OMIM:617974 |
Osteomesopyknosis |
|
Kyphosis, Sclerotic vertebral body, Scoliosis, Abnormal form of the vertebral bodies |
ORPHA:2777 |
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive |
|
Hip osteoarthritis, Platyspondyly, Osteoarthritis |
OMIM:271600 |
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type |
|
Platyspondyly, Scoliosis, Genu varum |
OMIM:618728 |
Brachyolmia Type 1, Toledo Type |
|
Back pain, Kyphoscoliosis, Short neck, Irregular vertebral endplates, Squared-off platyspondyly, ... |
OMIM:271630 |
Spondyloepiphyseal Dysplasia, Kimberley Type |
|
Platyspondyly, Osteoarthritis |
ORPHA:93283 |
Multiple Epiphyseal Dysplasia Type 5 |
|
Back pain, Osteoarthritis of the small joints of the hand, Abnormal acetabulum morphology, Multip... |
ORPHA:93311 |
Epiphyseal Dysplasia, Multiple, With Severe Proximal Femoral Dysplasia |
|
Irregularity of vertebral bodies, Platyspondyly, Genu valgum |
OMIM:609324 |
Brachydactylous Dwarfism, Mseleni Type |
|
Protrusio acetabuli, Knee osteoarthritis, Platyspondyly, Joint subluxation, Abnormality of the an... |
ORPHA:2619 |
Spondylosis, Cervical |
|
Osteoarthritis, Cervical spondylosis, Spondylolysis, Spina bifida occulta, Spondylolisthesis |
OMIM:184300 |
Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes |
|
Irregular vertebral endplates, Platyspondyly, Lumbar scoliosis, Kyphoscoliosis |
OMIM:612847 |
Acrodysplasia Scoliosis |
|
Vertebral segmentation defect, Spina bifida occulta, Scoliosis |
ORPHA:2956 |
Spondylometaphyseal Dysplasia, A4 Type |
|
Platyspondyly |
ORPHA:168555 |
Spondyloepimetaphyseal Dysplasia, Handigodu Type |
|
Abnormality of the knee, Hip contracture, Lumbar hyperlordosis, Abnormal intervertebral disk morp... |
ORPHA:99642 |
Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant |
|
Lumbar hyperlordosis, Kyphoscoliosis, Short neck, Hypoplasia of the odontoid process, Irregular v... |
OMIM:184100 |
Spondylocostal Dysostosis 3, Autosomal Recessive |
|
Contracture of the proximal interphalangeal joint of the 2nd finger, Kyphosis, Hypoplasia of the ... |
OMIM:609813 |
Bruck Syndrome 1 |
|
Hip contracture, Protrusio acetabuli, Ankle flexion contracture, Kyphosis, Elbow flexion contract... |
OMIM:259450 |
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly |
|
Multiple small vertebral fractures, Osteoporosis of vertebrae, Platyspondyly |
OMIM:156510 |
Osteogenesis Imperfecta, Type V |
|
Vertebral wedging, Platyspondyly, Wormian bones, Anterior radial head dislocation, Biconcave vert... |
OMIM:610967 |
Microcephalic Osteodysplastic Dysplasia, Saul-Wilson Type |
|
Irregularity of vertebral bodies, Platyspondyly, Hypoplasia of the odontoid process |
ORPHA:85172 |
Gm1-Gangliosidosis, Type Iii |
|
Kyphosis, Platyspondyly, Scoliosis, Anterior beaking of lumbar vertebrae, Hypoplastic acetabulae |
OMIM:230650 |
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
|
Kyphosis, Platyspondyly |
ORPHA:2786 |
Spondylometaphyseal Dysplasia, X-Linked |
|
Hip contracture, Enlarged joints, Thoracolumbar scoliosis, Kyphosis, Knee flexion contracture, Pl... |
OMIM:313420 |
Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome |
|
Sacral dimple, Tarsal synostosis, Abnormal form of the vertebral bodies, Posterior fusion of lumb... |
ORPHA:2064 |
Spondylocostal Dysostosis 2, Autosomal Recessive |
|
Vertebral segmentation defect, Vertebral clefting, Hemivertebrae, Short neck |
OMIM:608681 |
Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant |
|
Platyspondyly, Premature osteoarthritis |
OMIM:184840 |
Pyle Disease |
|
Genu valgum, Platyspondyly, Scoliosis, Cubitus valgus, Limited elbow extension |
OMIM:265900 |
Alkaptonuria |
|
Arthropathy, Vertebral fusion, Low back pain, Kyphosis, Arthritis, Limitation of knee mobility, I... |
OMIM:203500 |
Sillence Syndrome |
|
Back pain, Flat acetabular roof, Platyspondyly, Scoliosis, Abnormal vertebral morphology, Interve... |
ORPHA:3168 |
Dental Anomalies And Short Stature |
|
Platyspondyly, Herniation of intervertebral nuclei, Scoliosis, Narrow vertebral interpedicular di... |
OMIM:601216 |
Atelosteogenesis, Type Ii |
|
Lumbar hyperlordosis, Cervical kyphosis, Short neck, Increased intervertebral space, Lacunar halo... |
OMIM:256050 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3 |
|
Short neck, Multiple joint dislocation, Hip dislocation, Irregular vertebral endplates, Platyspon... |
OMIM:618395 |
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome |
|
Platyspondyly, Abnormal intervertebral disk morphology, Osteoarthritis |
ORPHA:1345 |
Progressive Pseudorheumatoid Arthropathy Of Childhood |
|
Irregularity of vertebral bodies, Abnormality of the knee, Enlarged interphalangeal joints, Thora... |
ORPHA:1159 |
Progressive Pseudorheumatoid Dysplasia |
|
Arthropathy, Enlarged interphalangeal joints, Camptodactyly of finger, Kyphoscoliosis, Osteoarthr... |
OMIM:208230 |
Pseudodiastrophic Dysplasia |
|
Lumbar hyperlordosis, Phalangeal dislocation, Short neck, Elbow dislocation, Hypoplasia of the od... |
OMIM:264180 |
Spondylometaphyseal Dysplasia, Type A4 |
|
Platyspondyly, Ovoid vertebral bodies, Flat acetabular roof, Irregular patellae |
OMIM:609052 |
Pseudoachondroplasia |
|
Lumbar hyperlordosis, Hypoplasia of the odontoid process, Osteoarthritis, Limited elbow extension... |
ORPHA:750 |
Osteogenesis Imperfecta, Type Ix |
|
Wormian bones, Kyphosis, Platyspondyly, Scoliosis |
OMIM:259440 |
Bruck Syndrome |
|
Kyphosis, Platyspondyly, Scoliosis, Wormian bones, Pterygium |
ORPHA:2771 |
Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Lumbar hyperlordosis, Hypoplastic sacrum, Capitate-hamate fusion, Osteoarthritis, Genu valgum, Pl... |
OMIM:271650 |
Ollier Disease |
|
Multiple enchondromatosis, Platyspondyly, Abnormal cartilage morphology |
ORPHA:296 |
Greenberg Dysplasia |
|
Abnormally ossified vertebrae, Platyspondyly, Abnormal form of the vertebral bodies |
ORPHA:1426 |
Brachyolmia Type 3 |
|
Kyphosis, Platyspondyly, Scoliosis, Short neck |
OMIM:113500 |
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type |
|
Wormian bones, Wide anterior fontanel, Platyspondyly |
OMIM:601356 |
Spondyloepiphyseal Dysplasia Tarda, X-Linked |
|
Back pain, Lumbar hyperlordosis, Short neck, Kyphosis, Platyspondyly, Hump-shaped mound of bone i... |
OMIM:313400 |
Rhizomelic Dysplasia, Patterson-Lowry Type |
|
Platyspondyly |
OMIM:601438 |
Loeys-Dietz Syndrome 6 |
|
Hip osteoarthritis, Knee osteoarthritis, Scoliosis, Intervertebral disc degeneration |
OMIM:619656 |
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome |
|
Platyspondyly |
ORPHA:71267 |
Hall-Riggs Syndrome |
|
Irregular vertebral endplates, Platyspondyly, Kyphosis, Scoliosis |
OMIM:234250 |
Multiple Epiphyseal Dysplasia, Beighton Type |
|
Low back pain, Thoracic scoliosis, Abnormal acetabulum morphology, Thoracic platyspondyly, Osteoa... |
ORPHA:166011 |
Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Enlarged joints, Kyphoscoliosis, Short neck, Hypoplasia of the odontoid process, Elbow flexion co... |
OMIM:184252 |
Spondylometaphyseal Dysplasia, Axial |
|
Platyspondyly, Scoliosis |
OMIM:602271 |
Rhizomelic Dysplasia, Ain-Naz Type |
|
Platyspondyly |
OMIM:619598 |
Osteogenesis Imperfecta, Type Xv |
|
Platyspondyly, Scoliosis |
OMIM:615220 |
Spondylometaphyseal Dysplasia, Pagnamenta Type |
|
Wormian bones, Platyspondyly, Thoracic kyphosis |
OMIM:619638 |
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness |
|
Lumbar hyperlordosis, Flat acetabular roof, Irregular vertebral endplates, Platyspondyly, Delayed... |
OMIM:609616 |
Autosomal Recessive Stickler Syndrome |
|
Irregular vertebral endplates, Platyspondyly, Genu valgum |
ORPHA:250984 |
Bruck Syndrome 2 |
|
Elbow flexion contracture, Knee flexion contracture, Platyspondyly, Wormian bones, Pterygium |
OMIM:609220 |
Spondyloepiphyseal Dysplasia Tarda |
|
Back pain, Osteoarthritis of the distal interphalangeal joint, Limited elbow movement, Short neck... |
ORPHA:93284 |
Spondyloperipheral Dysplasia-Short Ulna Syndrome |
|
Abnormal hip joint morphology, Ovoid vertebral bodies, Abnormality of the vertebral endplates, Pl... |
ORPHA:1856 |
Stickler Syndrome Type 1 |
|
Abnormal vertebral epiphysis morphology, Platyspondyly, Osteoarthritis |
ORPHA:90653 |
Metaphyseal Chondrodysplasia, Schmid Type |
|
Lumbar hyperlordosis, Distal tibial bowing, Genu valgum, Irregular vertebral endplates, Platyspon... |
OMIM:156500 |
Metatropic Dysplasia |
|
Relatively short spine, Enlarged joints, Kyphoscoliosis, Hypoplasia of the odontoid process, Kyph... |
OMIM:156530 |
Spondylometaphyseal Dysplasia With Corneal Dystrophy |
|
Increased intervertebral space, Beaking of vertebral bodies, Lumbar platyspondyly, Thoracic platy... |
OMIM:618961 |
Intellectual Developmental Disorder, Autosomal Recessive 54 |
|
Exaggerated startle response |
OMIM:617028 |
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome |
|
Ovoid vertebral bodies, Short neck, Wide anterior fontanel, Abnormality of the elbow, Flat acetab... |
ORPHA:163649 |
Smith-Mccort Dysplasia 1 |
|
Short neck, Hypoplasia of the odontoid process, Kyphosis, Atlantoaxial instability, Genu valgum, ... |
OMIM:607326 |
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type |
|
Abnormally ossified vertebrae, Platyspondyly, Delayed ossification of carpal bones, Cervical inst... |
ORPHA:93346 |
Spondyloepimetaphyseal Dysplasia, Strudwick Type |
|
Hyperlordosis, Hypoplasia of the odontoid process, Genu valgum, Platyspondyly, Scoliosis, C1-C2 s... |
OMIM:184250 |
Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Hyperlordosis, Short neck, Premature osteoarthritis, Platyspondyly, Squared-off platyspondyly, Sc... |
ORPHA:93352 |
Calvarial Doughnut Lesions With Bone Fragility |
|
Platyspondyly, Scoliosis |
OMIM:126550 |
Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Abnormal joint morphology, Osteoarthritis, Abnormal carpal morphology, Genu valgum, Platyspondyly... |
ORPHA:93351 |
Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Lumbar hyperlordosis, Short neck, Genu varum, Platyspondyly, Scoliosis, Vertebral compression fra... |
OMIM:602557 |
Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Irregular sclerotic endplates, Osteoarthritis, Platyspondyly, Pear-shaped vertebrae, Limited elbo... |
OMIM:602111 |
Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Cervical platyspondyly, Lumbar hyperlordosis, Abnormal acetabulum morphology, Increased intervert... |
ORPHA:93314 |
Lethal Kniest-Like Dysplasia |
|
Short neck, Wide anterior fontanel, Abnormal cartilage morphology, Abnormal cartilage matrix, Hyp... |
ORPHA:2347 |
Geroderma Osteodysplastica |
|
Vertebral compression fracture, Hip dislocation, Abnormal form of the vertebral bodies, Platyspon... |
ORPHA:2078 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type |
|
Kyphoscoliosis, Hip subluxation, Kyphosis, Radial head subluxation, Multiple joint dislocation, P... |
ORPHA:93360 |
Pseudoachondroplasia |
|
Lumbar hyperlordosis, Genu recurvatum, Ulnar deviation of the wrist, Hypoplasia of the odontoid p... |
OMIM:177170 |
Chondroectodermal Dysplasia With Night Blindness |
|
Abnormal patella morphology, Abnormality of the knee, Platyspondyly |
ORPHA:319195 |
Combined Oxidative Phosphorylation Deficiency 47 |
|
Platyspondyly, Short neck |
OMIM:618958 |
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type |
|
Lumbar hyperlordosis, Ovoid vertebral bodies, Flat acetabular roof, Platyspondyly, Limited elbow ... |
OMIM:608728 |
Slc39A13-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Platyspondyly |
ORPHA:157965 |
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy |
|
Ovoid vertebral bodies, Platyspondyly, Severe platyspondyly, Scoliosis |
OMIM:608940 |
Osteogenesis Imperfecta, Type Xxi |
|
Wormian bones, Platyspondyly, Scoliosis |
OMIM:619131 |
Mucopolysaccharidosis, Type Iva |
|
Ulnar deviation of the wrist, Ovoid vertebral bodies, Hyperlordosis, Short neck, Hypoplasia of th... |
OMIM:253000 |
Odontochondrodysplasia 1 |
|
Biconvex vertebral bodies, Genu recurvatum, Flat acetabular roof, Coronal cleft vertebrae, Platys... |
OMIM:184260 |
Kniest Dysplasia |
|
Arthropathy, Enlarged joints, Short neck, Hypoplasia of the odontoid process, Abnormal joint morp... |
ORPHA:485 |
Kniest Dysplasia |
|
Hip contracture, Enlarged joints, Short neck, Hip dislocation, Coronal cleft vertebrae, Platyspon... |
OMIM:156550 |
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Platyspondyly, Short neck |
ORPHA:93267 |
Mucopolysaccharidosis, Type X |
|
Hyperlordosis, Genu valgum, Platyspondyly, Posterior scalloping of vertebral bodies, Scoliosis, I... |
OMIM:619698 |
Spondyloepiphyseal Dysplasia Congenita |
|
Lumbar hyperlordosis, Ovoid vertebral bodies, Limited elbow movement, Short neck, Hypoplasia of t... |
OMIM:183900 |
Smith-Mccort Dysplasia 2 |
|
Enlarged interphalangeal joints, Hyperlordosis, Short neck, Hypoplasia of the odontoid process, F... |
OMIM:615222 |
Spondylometaphyseal Dysplasia, Schmidt Type |
|
Abnormality of the knee, Kyphoscoliosis, Genu valgum, Platyspondyly, Abnormality of the vertebral... |
ORPHA:93316 |
Odontochondrodysplasia |
|
Platyspondyly, Scoliosis |
ORPHA:166272 |
Stickler Syndrome, Type I |
|
Arthropathy, Kyphosis, Osteoarthritis, Arthritis, Platyspondyly, Morbus Scheuermann, Scoliosis, B... |
OMIM:108300 |
Infantile Liver Failure Syndrome 3 |
|
Hypoplastic vertebral bodies, Beaking of vertebral bodies, Abnormal acetabulum morphology, Platys... |
OMIM:618641 |
Metaphyseal Chondrodysplasia, Schmid Type |
|
Lumbar hyperlordosis, Irregular vertebral endplates, Platyspondyly, Abnormal vertebral morphology... |
ORPHA:174 |
Anauxetic Dysplasia 1 |
|
Hip contracture, Lumbar hyperlordosis, Short neck, Limited elbow extension, Elbow flexion contrac... |
OMIM:607095 |
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3 |
|
Camptodactyly of finger, Kyphoscoliosis, Irregular vertebral endplates, Platyspondyly, Joint cont... |
OMIM:612350 |
Cole-Carpenter Syndrome 2 |
|
Wide cranial sutures, Kyphosis, Platyspondyly, Lambdoidal craniosynostosis, Wormian bones, Corona... |
OMIM:616294 |
Spondyloepiphyseal Dysplasia Congenita |
|
Back pain, Abnormally ossified vertebrae, Lumbar hyperlordosis, Limited elbow movement, Short nec... |
ORPHA:94068 |
Geroderma Osteodysplasticum |
|
Kyphoscoliosis, Vertebral compression fracture, Irregular vertebral endplates, Platyspondyly, Bic... |
OMIM:231070 |
Spondylo-Ocular Syndrome |
|
Platyspondyly, Abnormal intervertebral disk morphology, Thoracic kyphosis, Short neck |
ORPHA:85194 |
Otospondylomegaepiphyseal Dysplasia |
|
Abnormally ossified vertebrae, Lumbar hyperlordosis, Enlarged joints, Short neck, Osteoarthritis,... |
ORPHA:1427 |
Lowry-Wood Syndrome |
|
Elbow dislocation, Platyspondyly, Patellar dislocation, Dislocated radial head |
ORPHA:1824 |
Czech Dysplasia |
|
Irregular vertebral endplates, Platyspondyly, Thoracic kyphosis, Scoliosis, Intervertebral space ... |
OMIM:609162 |
Dysosteosclerosis |
|
Hypoplastic vertebral bodies, Irregular vertebral endplates, Platyspondyly |
ORPHA:1782 |
Schwartz-Jampel Syndrome, Type 1 |
|
Hip contracture, Lumbar hyperlordosis, Congenital hip dislocation, Cervical kyphosis, Kyphoscolio... |
OMIM:255800 |
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive |
|
Lumbar hyperlordosis, Enlarged joints, Premature osteoarthritis, Coronal cleft vertebrae, Platysp... |
OMIM:215150 |
Anauxetic Dysplasia 3 |
|
Thoracolumbar kyphoscoliosis, Wide anterior fontanel, Genu valgum, Platyspondyly, Beaking of vert... |
OMIM:618853 |
Fibrochondrogenesis 2 |
|
Platyspondyly |
OMIM:614524 |
Cantu Syndrome |
|
Platyspondyly, Cuboid-shaped vertebral bodies, Ovoid vertebral bodies, Short neck |
OMIM:239850 |
Developmental And Epileptic Encephalopathy 8 |
|
Exaggerated startle response, Overgrowth |
OMIM:300607 |
Axial Spondylometaphyseal Dysplasia |
|
Aplasia/Hypoplasia of the vertebrae, Thoracic scoliosis, Posterior wedging of vertebral bodies, F... |
ORPHA:168549 |
Mucopolysaccharidosis Type 4 |
|
Joint dislocation, Hyperlordosis, Short neck, Kyphosis, Spinal canal stenosis, Genu valgum, Platy... |
ORPHA:582 |
Dyggve-Melchior-Clausen Disease |
|
Short neck, Hypoplasia of the odontoid process, Abnormality of the vertebral endplates, Atlantoax... |
ORPHA:239 |
Desbuquois Dysplasia 1 |
|
Joint dislocation, Phalangeal dislocation, Hyperlordosis, Short neck, Kyphosis, Osteoarthritis, A... |
OMIM:251450 |
Schneckenbecken Dysplasia |
|
Ovoid vertebral bodies, Short neck, Advanced ossification of carpal bones, Flat acetabular roof, ... |
OMIM:269250 |
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type |
|
Vertebral fusion, Biconvex vertebral bodies, Lumbar hyperlordosis, Ovoid vertebral bodies, Short ... |
ORPHA:93315 |
Spondyloepimetaphyseal Dysplasia, Aggrecan Type |
|
Platyspondyly, Lumbar hyperlordosis, Short neck |
OMIM:612813 |
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus |
|
Hyperlordosis, Hypoplasia of the odontoid process, Irregular carpal bones, Hip dislocation, Genu ... |
OMIM:226980 |
Thanatophoric Dysplasia |
|
Abnormal sacroiliac joint morphology, Platyspondyly, Kyphosis |
ORPHA:2655 |
Spondylometaphyseal Dysplasia, Algerian Type |
|
Lumbar hyperlordosis, Kyphoscoliosis, Genu valgum, Platyspondyly, Carpal bone hypoplasia |
OMIM:184253 |
Thanatophoric Dysplasia, Type Ii |
|
Platyspondyly |
OMIM:187601 |
Osteogenesis Imperfecta, Type Xiii |
|
Kyphoscoliosis, Platyspondyly, Scoliosis, Wormian bones, Limitation of knee mobility, Dislocated ... |
OMIM:614856 |
Osteogenesis Imperfecta, Type Iv |
|
Wormian bones, Kyphosis, Biconcave flattened vertebrae, Scoliosis |
OMIM:166220 |
Hypophosphatasia, Infantile |
|
Craniosynostosis, Vertebral clefting, Platyspondyly, Unossified vertebral bodies, Widely patent f... |
OMIM:241500 |
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
|
Platyspondyly |
OMIM:300863 |
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type |
|
Thoracolumbar scoliosis, Craniosynostosis, Short neck, Platyspondyly, Scoliosis, Limited elbow ex... |
OMIM:616723 |
Thanatophoric Dysplasia Type 2 |
|
Kyphosis, Platyspondyly |
ORPHA:93274 |
Gm1-Gangliosidosis, Type Ii |
|
Hypoplastic vertebral bodies, Platyspondyly, Scoliosis, Thoracolumbar kyphosis, Beaking of verteb... |
OMIM:230600 |
Sacral Agenesis With Vertebral Anomalies |
|
Absence of the sacrum, Vertebral clefting, Abnormal vertebral morphology |
OMIM:615709 |
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
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Short neck, Flat acetabular roof, Wormian bones, Dysplastic sacrum, Severe platyspondyly |
OMIM:613320 |
Platyspondylic Dysplasia, Torrance Type |
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Platyspondyly, Abnormal carpal morphology, Genu varum |
ORPHA:85166 |
Mucopolysaccharidosis, Type Ivb |
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Ulnar deviation of the wrist, Ovoid vertebral bodies, Hyperlordosis, Hypoplasia of the odontoid p... |
OMIM:253010 |
Hall-Riggs Syndrome |
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Platyspondyly, Scoliosis |
ORPHA:2107 |
Osteogenesis Imperfecta, Type Ii |
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Wormian bones, Platyspondyly |
OMIM:166210 |
Osteogenesis Imperfecta, Type Xvi |
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Wormian bones, Vertebral compression fracture, Platyspondyly |
OMIM:616229 |
Spondyloperipheral Dysplasia |
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Ovoid vertebral bodies, Short neck, Kyphosis, Flat acetabular roof, Irregular vertebral endplates... |
OMIM:271700 |
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type |
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Disc-like vertebral bodies, Ovoid vertebral bodies, Short neck, Flat acetabular roof, Wafer-thin ... |
OMIM:151210 |
Atelosteogenesis Type I |
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Joint dislocation, Coronal cleft vertebrae, Platyspondyly, Scoliosis, Absent or minimally ossifie... |
ORPHA:1190 |
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities |
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Kyphoscoliosis, Platyspondyly, Delayed ossification of carpal bones, Cervical instability, Thorac... |
OMIM:617425 |
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy |
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Kyphoscoliosis, Short neck, Hypoplasia of the odontoid process, Platyspondyly, Thoracic kyphosis,... |
OMIM:300232 |
Osteogenesis Imperfecta, Type Xvii |
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Vertebral compression fracture, Hip dislocation, Platyspondyly, Kyphoscoliosis |
OMIM:616507 |
Aneurysm-Osteoarthritis Syndrome |
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Osteoarthritis of the small joints of the hand, Protrusio acetabuli, Camptodactyly of finger, Cra... |
ORPHA:284984 |
Spondyloepimetaphyseal Dysplasia, Sponastrime Type |
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Lumbar hyperlordosis, Kyphoscoliosis, Genu valgum, Platyspondyly, Thoracic kyphosis, Delayed ossi... |
OMIM:271510 |
Osteogenesis Imperfecta, Type Viii |
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Kyphosis, Wide anterior fontanel, Platyspondyly, Scoliosis, Wormian bones, Vertebral compression ... |
OMIM:610915 |
Dyggve-Melchior-Clausen Disease |
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Lumbar hyperlordosis, Short neck, Hypoplasia of the odontoid process, Kyphosis, Flat acetabular r... |
OMIM:223800 |
Desbuquois Dysplasia 2 |
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Lumbar hyperlordosis, Short neck, Radial head subluxation, Hip dislocation, Advanced ossification... |
OMIM:615777 |
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
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Platyspondyly |
ORPHA:163966 |
Thanatophoric Dysplasia, Type I |
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Platyspondyly, Severe platyspondyly, Short neck |
OMIM:187600 |
Hyperekplexia-Epilepsy Syndrome |
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Exaggerated startle response |
ORPHA:163985 |
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly |
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Joint dislocation, Ovoid vertebral bodies, Thoracolumbar scoliosis, Hyperlordosis, Thoracic platy... |
OMIM:618019 |
Thanatophoric Dysplasia Type 1 |
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Abnormal sacroiliac joint morphology, Platyspondyly, Wide anterior fontanel, Kyphosis |
ORPHA:1860 |
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome |
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Abnormality of the knee, Thoracolumbar scoliosis, Kyphoscoliosis, Hyperlordosis, Thoracic platysp... |
ORPHA:457395 |
Saul-Wilson Syndrome |
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Wide anterior fontanel, Hypoplasia of the odontoid process, Madelung deformity, Irregular vertebr... |
OMIM:618150 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
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Wormian bones, Platyspondyly, Short neck |
OMIM:616897 |
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech |
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Short neck, Anterior scalloping of vertebral bodies, Cuboid-shaped vertebral bodies, Platyspondyl... |
OMIM:611717 |
Acromesomelic Dysplasia 4 |
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Thoracic scoliosis, Lumbar hyperlordosis, Thoracic platyspondyly, Genu valgum, Platyspondyly, Bea... |
OMIM:619636 |
Mucopolysaccharidosis, Type Vii |
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Anterior beaking of lower thoracic vertebrae, Short neck, Hypoplasia of the odontoid process, Kyp... |
OMIM:253220 |
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2 |
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Kyphoscoliosis, Hip dislocation, Advanced ossification of carpal bones, Cervical spine instabilit... |
OMIM:615349 |
Fibrochondrogenesis 1 |
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Short neck, Wide anterior fontanel, Widely patent coronal suture, Platyspondyly, Joint contractur... |
OMIM:228520 |
Cantú Syndrome |
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Platyspondyly, Cuboid-shaped vertebral bodies, Ovoid vertebral bodies, Short neck |
ORPHA:1517 |
Spondyloenchondrodysplasia With Immune Dysregulation |
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Lumbar hyperlordosis, Kyphoscoliosis, Increased intervertebral space, Irregular vertebral endplat... |
OMIM:607944 |
Schimke Immunoosseous Dysplasia |
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Lumbar hyperlordosis, Ovoid vertebral bodies, Short neck, Platyspondyly, Thoracic kyphosis, Shall... |
OMIM:242900 |
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
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Kyphosis, Platyspondyly, Sclerotic vertebral body |
OMIM:618476 |
Short-Rib Thoracic Dysplasia 18 With Polydactyly |
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Platyspondyly, Vertebral wedging |
OMIM:617866 |
Bone Fragility With Contractures, Arterial Rupture, And Deafness |
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Contracture of the proximal interphalangeal joint of the 2nd finger, Elbow flexion contracture, P... |
OMIM:612394 |
Dysosteosclerosis |
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Delayed closure of the anterior fontanelle, Increased intervertebral space, Hypoplastic vertebral... |
OMIM:224300 |
Aromatic L-Amino Acid Decarboxylase Deficiency |
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Torticollis, Exaggerated startle response, Oculogyric crisis, Limb tremor, Choreoathetosis, Athet... |
OMIM:608643 |
Trisomy 20P |
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Camptodactyly of finger, Short neck, Kyphosis, Abnormal form of the vertebral bodies, Vertebral s... |
ORPHA:261318 |
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans |
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Kyphosis, Platyspondyly, Lumbar hyperlordosis, Wide anterior fontanel |
OMIM:616482 |
Achondroplasia |
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Lumbar hyperlordosis, Lumbar kyphosis in infancy, Spinal stenosis with reduced interpedicular dis... |
OMIM:100800 |
Gm1 Gangliosidosis |
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Camptodactyly of finger, Hyperlordosis, Kyphosis, Abnormal form of the vertebral bodies, Platyspo... |
ORPHA:354 |
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
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Congenital kyphoscoliosis, Ovoid vertebral bodies, Kyphoscoliosis, Large joint dislocations, Cran... |
ORPHA:536467 |
Osteoporosis-Pseudoglioma Syndrome |
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Kyphoscoliosis, Kyphosis, Platyspondyly, Scoliosis, Biconcave vertebral bodies, Vertebral compres... |
OMIM:259770 |
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
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Craniosynostosis, Short neck, Multiple joint dislocation, Hip dislocation, Elbow flexion contract... |
OMIM:245600 |
Osteogenesis Imperfecta, Type X |
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Thoracic scoliosis, Genu valgum, Platyspondyly, Scoliosis, Vertebral compression fracture |
OMIM:613848 |
Bent Bone Dysplasia Syndrome 2 |
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Short neck, Coronal cleft vertebrae, Platyspondyly, Hypoplastic acetabulae, Butterfly vertebrae |
OMIM:620076 |
Schimke Immuno-Osseous Dysplasia |
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Lumbar hyperlordosis, Ovoid vertebral bodies, Short neck, Platyspondyly, Shallow acetabular fossae |
ORPHA:1830 |
Developmental And Epileptic Encephalopathy 68 |
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Exaggerated startle response |
OMIM:618201 |
Hyperekplexia 2 |
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Exaggerated startle response |
OMIM:614619 |
Loeys-Dietz Syndrome 3 |
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Protrusio acetabuli, Craniosynostosis, Osteoarthritis, Knee osteoarthritis, Cervical spine instab... |
OMIM:613795 |
Gm1 Gangliosidosis Type 1 |
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Hypoplastic vertebral bodies, Platyspondyly, Acetabular dysplasia, Beaking of vertebral bodies T1... |
ORPHA:79255 |
Atelosteogenesis, Type I |
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Short neck, Thoracic platyspondyly, Elbow dislocation, Fused cervical vertebrae, Coronal cleft ve... |
OMIM:108720 |
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
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Sacral dimple, Lumbar hyperlordosis, Limited elbow movement, Craniosynostosis, Increased interver... |
ORPHA:508533 |
Opsismodysplasia |
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Short neck, Hypoplasia of the odontoid process, Flat acetabular roof, Hypoplastic vertebral bodie... |
OMIM:258480 |
Osteogenesis Imperfecta, Type I |
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Wormian bones, Biconcave flattened vertebrae |
OMIM:166200 |
Odontochondrodysplasia 2 With Hearing Loss And Diabetes |
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Platyspondyly, Large knee, Scoliosis |
OMIM:619269 |
Hyperekplexia 3 |
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Exaggerated startle response |
OMIM:614618 |
Stiff Person Spectrum Disorder |
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Exaggerated startle response |
ORPHA:3198 |
Gm2 Gangliosidosis, Ab Variant |
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Exaggerated startle response, Dystonia |
ORPHA:309246 |
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
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Platyspondyly, Ovoid vertebral bodies, Scoliosis |
ORPHA:85167 |
Spondylodysplastic Ehlers-Danlos Syndrome |
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Joint dislocation, Subluxation of the small joints of the hand, Congenital kyphoscoliosis, Kyphos... |
ORPHA:536471 |
Spondyloenchondrodysplasia |
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Kyphosis, Platyspondyly, Juvenile rheumatoid arthritis, Arthritis |
ORPHA:1855 |
Atypical Werner Syndrome |
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Chondrocalcinosis, Intervertebral disc degeneration |
ORPHA:79474 |
Digeorge Syndrome |
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Pilonidal sinus, Patellar dislocation, Scoliosis, Intervertebral disc degeneration |
OMIM:188400 |
Schwartz-Jampel Syndrome |
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Hip contracture, Abnormally ossified vertebrae, Protrusio acetabuli, Short neck, Hyperlordosis, K... |
ORPHA:800 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures |
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Ovoid vertebral bodies, Kyphoscoliosis, Short neck, Radial head subluxation, Hip dislocation, Adv... |
OMIM:271640 |
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type |
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Short neck, Hypoplasia of the odontoid process, Wide anterior fontanel, Atlantoaxial instability,... |
OMIM:271665 |
Stiff-Person Syndrome |
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Exaggerated startle response, Opisthotonus |
OMIM:184850 |
Spondyloepimetaphyseal Dysplasia, Genevieve Type |
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Short neck, Advanced ossification of carpal bones, Flat acetabular roof, Irregular vertebral endp... |
OMIM:610442 |
Kyphomelic Dysplasia |
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Platyspondyly, Flat acetabular roof, Pterygium |
OMIM:211350 |
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures |
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Tremor, Exaggerated startle response, Truncal titubation |
OMIM:618056 |
Spastic Paraplegia, Optic Atrophy, And Neuropathy |
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Exaggerated startle response |
OMIM:609541 |
Hyperekplexia 1 |
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Exaggerated startle response |
OMIM:149400 |
Spastic Tetraplegia And Axial Hypotonia, Progressive |
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Exaggerated startle response |
OMIM:618598 |
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome |
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Exaggerated startle response |
ORPHA:320406 |
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1 |
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Joint dislocation, Congenital hip dislocation, Protrusio acetabuli, Kyphoscoliosis, Platyspondyly... |
OMIM:225400 |
Greenberg Dysplasia |
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Costal cartilage calcification, Punctate vertebral calcifications, Hypoplastic vertebral bodies, ... |
OMIM:215140 |
Occipital Horn Syndrome |
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Persistent open anterior fontanelle, Kyphosis, Capitate-hamate fusion, Genu valgum, Platyspondyly... |
OMIM:304150 |
Tay-Sachs Disease |
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Exaggerated startle response |
OMIM:272800 |
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures |
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Exaggerated startle response |
OMIM:620114 |
Marshall Syndrome |
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Platyspondyly, Knee osteoarthritis |
OMIM:154780 |
Gm2-Gangliosidosis, Ab Variant |
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Exaggerated startle response, Dystonia |
OMIM:272750 |
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities |
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Tremor, Exaggerated startle response |
OMIM:620327 |
Spondyloocular Syndrome |
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Vertebral compression fracture, Platyspondyly |
OMIM:605822 |
Spondylometaphyseal Dysplasia, Sedaghatian Type |
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Platyspondyly |
ORPHA:93317 |
Spondyloepimetaphyseal Dysplasia, X-Linked |
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Lumbar hyperlordosis, Hypoplasia of the odontoid process, Kyphosis, Genu varum, Anterior wedging ... |
OMIM:300106 |
Leukodystrophy, Hypomyelinating, 13 |
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Exaggerated startle response |
OMIM:616881 |
Sudden Infant Death With Dysgenesis Of The Testes Syndrome |
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Exaggerated startle response |
OMIM:608800 |
Sandhoff Disease, Infantile Form |
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Exaggerated startle response |
ORPHA:309155 |
Blomstrand Lethal Chondrodysplasia |
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Platyspondyly, Synostosis of joints |
ORPHA:50945 |
Alpha-Mannosidosis, Infantile Form |
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Craniosynostosis, Short neck, Genu valgum, Platyspondyly, Talipes valgus |
ORPHA:309282 |
Occipital Horn Syndrome |
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Kyphosis, Hip dislocation, Genu valgum, Platyspondyly, Scoliosis, Abnormality of the wrist, Synos... |
ORPHA:198 |
Stickler Syndrome |
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Joint dislocation, Protrusio acetabuli, Kyphosis, Osteoarthritis, Hip dislocation, Spinal canal s... |
ORPHA:828 |
Aspartylglucosaminuria |
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Kyphosis, Platyspondyly, Spondylolysis, Scoliosis, Beaking of vertebral bodies, Spondylolisthesis |
OMIM:208400 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation |
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Exaggerated startle response, Dystonia |
ORPHA:438216 |
Sponastrime Dysplasia |
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Lumbar hyperlordosis, Kyphoscoliosis, Hip dislocation, Genu valgum, Hyperconvex vertebral body en... |
ORPHA:93357 |
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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Platyspondyly, Camptodactyly of finger, Craniosynostosis, Short neck |
OMIM:166250 |
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities |
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Exaggerated startle response |
OMIM:617864 |
Lowe Oculocerebrorenal Syndrome |
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Camptodactyly of finger, Wrist swelling, Kyphosis, Hip dislocation, Genu valgum, Platyspondyly, S... |
OMIM:309000 |
Myhre Syndrome |
|
Platyspondyly |
ORPHA:2588 |
Tay-Sachs Disease |
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Tremor, Exaggerated startle response, Laryngeal dystonia, Dystonia |
ORPHA:845 |
Craniotubular Dysplasia, Ikegawa Type |
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Increased intervertebral space, Platyspondyly |
OMIM:619727 |
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
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Platyspondyly |
OMIM:263520 |
Glycine Encephalopathy With Normal Serum Glycine |
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Exaggerated startle response |
OMIM:617301 |
Myhre Syndrome |
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Vertebral fusion, Enlarged vertebral pedicles, Platyspondyly, Short neck |
OMIM:139210 |
Sandhoff Disease |
|
Exaggerated startle response |
OMIM:268800 |
Developmental And Epileptic Encephalopathy 49 |
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Exaggerated startle response |
OMIM:617281 |
Spondylometaphyseal Dysplasia, Sedaghatian Type |
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Platyspondyly, Flat acetabular roof, Short neck |
OMIM:250220 |
Plaa-Associated Neurodevelopmental Disorder |
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Exaggerated startle response, Dystonia |
ORPHA:521426 |
Oculocerebrorenal Syndrome Of Lowe |
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Kyphosis, Hip dislocation, Genu valgum, Arthritis, Platyspondyly, Joint swelling, Patellar disloc... |
ORPHA:534 |
Asparagine Synthetase Deficiency |
|
Tremor, Exaggerated startle response |
OMIM:615574 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
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Hip contracture, Prominent metopic ridge, Short neck, Elbow dislocation, Hip dislocation, Elbow f... |
OMIM:210710 |
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria |
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Enlargement of the ankles, Short neck, Abnormal joint morphology, Irregular vertebral endplates, ... |
ORPHA:99646 |
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 |
Otopalatodigital Syndrome, Type Ii |
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Congenital hip dislocation, Kyphoscoliosis, Short neck, Delayed closure of the anterior fontanell... |
OMIM:304120 |
Fontaine Progeroid Syndrome |
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Craniosynostosis, Wide anterior fontanel, Platyspondyly, Scoliosis, Coronal craniosynostosis |
OMIM:612289 |
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
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Camptodactyly of finger, Kyphosis, Platyspondyly, Abnormality of the vertebral column, Abnormal v... |
ORPHA:2273 |
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination |
|
Exaggerated startle response |
OMIM:618367 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Exaggerated startle response, Dystonia |
ORPHA:438213 |
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
|
Exaggerated startle response |
OMIM:619522 |
Pmm2-Cdg |
|
Platyspondyly, Kyphoscoliosis |
ORPHA:79318 |