Vertebral Fusion, Posterior Lumbosacral, With Blepharoptosis |
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Posterior fusion of lumbosacral vertebrae |
OMIM:192800 |
Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome |
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Sacral dimple, Posterior fusion of lumbosacral vertebrae, Joint stiffness, Tarsal synostosis, Abn... |
ORPHA:2064 |
Microcephaly With Cervical Spine Fusion Anomalies |
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Vertebral fusion, Spinal instability |
OMIM:251250 |
Klippel-Feil Syndrome 3, Autosomal Dominant |
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Cervical C3/C4 vertebral fusion, Cervical C5/C6 vertebrae fusion, Thoracic scoliosis |
OMIM:613702 |
Multiple Synostoses Syndrome 2 |
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Vertebral fusion, Humeroradial synostosis, Finger symphalangism, Carpal synostosis, Proximal symp... |
OMIM:610017 |
Spondylocostal Dysostosis 6, Autosomal Recessive |
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Cervical kyphosis, Butterfly vertebrae, Spinal canal stenosis, Scoliosis, Hemivertebrae |
OMIM:616566 |
Second Metatarsal-Metacarpal Syndrome |
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Synostosis of carpals/tarsals, Platyspondyly |
OMIM:269630 |
Spondylocostal Dysostosis 1, Autosomal Recessive |
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Back pain, Vertebral fusion, Block vertebrae, Vertebral segmentation defect, Kyphoscoliosis, Shor... |
OMIM:277300 |
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B |
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Flexion contracture, Fused cervical vertebrae, Antecubital pterygium, Short neck, Scoliosis, Tars... |
OMIM:618469 |
Symphalangism Of Toes |
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Synostosis involving bones of the toes |
OMIM:185600 |
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome |
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Thoracic hemivertebrae, Fused cervical vertebrae, Scoliosis, Abnormal sacrum morphology |
ORPHA:1436 |
Spondylocostal Dysostosis 5 |
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Vertebral fusion, Low back pain, Butterfly vertebrae, Short neck, Scoliosis, Hemivertebrae |
OMIM:122600 |
Mental Retardation, Skeletal Dysplasia, And Abducens Palsy |
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Thoracic hemivertebrae, Fused cervical vertebrae, Scoliosis, Prominent metopic ridge |
OMIM:309620 |
Acrodysplasia Scoliosis |
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Spina bifida occulta, Vertebral segmentation defect, Scoliosis |
ORPHA:2956 |
Diaphanospondylodysostosis |
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Abnormal vertebral segmentation and fusion, Absent or minimally ossified vertebral bodies, Short ... |
ORPHA:66637 |
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods |
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Cervical vertebral bodies with decreased anteroposterior diameter, Fusion of midcervical facet jo... |
OMIM:606842 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3 |
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Sacral dimple, Vertebral segmentation defect, Vertebral fusion |
OMIM:618845 |
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A |
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Knee flexion contracture, Vertebral fusion, Hip contracture, Multiple pterygia, Elbow flexion con... |
OMIM:178110 |
Klippel-Feil Syndrome 2, Autosomal Recessive |
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Fused cervical vertebrae, Short neck, Cervical C2/C3 vertebral fusion, Scoliosis |
OMIM:214300 |
Brachydactyly, Type B1 |
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Delayed cranial suture closure, Hypoplastic sacrum, Vertebral fusion, Thoracolumbar scoliosis, Jo... |
OMIM:113000 |
Wildervanck Syndrome |
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Fused cervical vertebrae |
OMIM:314600 |
Keratoconus Posticus Circumscriptus |
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Abnormal vertebral segmentation and fusion, Short neck, Limited elbow extension and supination |
OMIM:244600 |
Isolated Klippel-Feil Syndrome |
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Abnormal sacrum morphology, Abnormal vertebral segmentation and fusion, Short neck, Scoliosis, Ab... |
ORPHA:2345 |
Spondylocostal Dysostosis 3, Autosomal Recessive |
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Kyphosis, Vertebral segmentation defect, Hypoplasia of the odontoid process, Contracture of the p... |
OMIM:609813 |
Verheij Syndrome |
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Vertebral fusion, Hip dislocation, Short neck, Scoliosis, Hemivertebrae |
OMIM:615583 |
Spondylocostal Dysostosis 2, Autosomal Recessive |
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Vertebral clefting, Vertebral segmentation defect, Hemivertebrae, Short neck |
OMIM:608681 |
Asymmetric Short Stature Syndrome |
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Fused cervical vertebrae, Lumbar scoliosis |
OMIM:108450 |
Mayer-Rokitansky-Küster-Hauser Syndrome |
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Vertebral segmentation defect, Vertebral fusion, Abnormal form of the vertebral bodies, Abnormal ... |
ORPHA:3109 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5 |
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Hyperlordosis, Vertebral fusion, Kyphosis, Achilles tendon contracture, Elbow contracture, Scoliosis |
OMIM:606612 |
Familial Congenital Mirror Movements |
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Fused cervical vertebrae |
ORPHA:238722 |
Alkaptonuria |
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Vertebral fusion, Kyphosis, Arthropathy, Low back pain, Arthritis, Limited hip movement, Limited ... |
OMIM:203500 |
Developmental And Speech Delay Due To Sox5 Deficiency |
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Vertebral fusion, Butterfly vertebrae, Thoracic kyphoscoliosis, Scoliosis, Lumbar hyperlordosis |
ORPHA:313892 |
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome |
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Vertebral fusion, Patellar dislocation, Kyphosis, Hypoplastic vertebral bodies, Elbow dislocation... |
ORPHA:2916 |
Kbg Syndrome |
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Vertebral fusion, Thoracic kyphosis, Short neck, Delayed skeletal maturation, Scoliosis, Persiste... |
ORPHA:2332 |
Otopalatodigital Syndrome Type 1 |
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Increased bone mineral density, Synostosis of carpal bones, Limitation of joint mobility, Elbow d... |
ORPHA:90650 |
Spondylocostal Dysostosis 4, Autosomal Recessive |
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Vertebral fusion, Block vertebrae, Vertebral segmentation defect, Spina bifida occulta, Abnormali... |
OMIM:613686 |
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type |
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Vertebral hypoplasia, Limb pain, Short neck, Ovoid vertebral bodies, Reduced bone mineral density... |
ORPHA:93315 |
Multiple Pterygium Syndrome, X-Linked |
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Increased susceptibility to fractures, Vertebral fusion, Flexion contracture, Joint dislocation, ... |
OMIM:312150 |
Wildervanck Syndrome |
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Fused cervical vertebrae, Short neck |
ORPHA:3456 |
Kniest Dysplasia |
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Delayed epiphyseal ossification, Arthropathy, Anterior vertebral fusion, Fused cervical vertebrae... |
ORPHA:485 |
Gorlin Syndrome |
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Scoliosis, Vertebral fusion, Hemivertebrae, Vertebral wedging |
ORPHA:377 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5 |
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Hyperlordosis, Vertebral fusion, Kyphosis, Achilles tendon contracture, Scoliosis |
OMIM:607155 |
Multiple Pterygium Syndrome, Lethal Type |
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Increased susceptibility to fractures, Vertebral fusion, Flexion contracture, Joint dislocation, ... |
OMIM:253290 |
Ring Chromosome 21 Syndrome |
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Thoracic hemivertebrae, Scoliosis, Fused thoracic vertebrae |
ORPHA:1445 |
Klippel-Feil Syndrome 1, Autosomal Dominant |
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Abnormal vertebral segmentation and fusion, Short neck, Cervical C2/C3 vertebral fusion, Scoliosis |
OMIM:118100 |
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism |
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Thoracolumbar scoliosis, Flexion contracture, Acetabular dysplasia, Short neck, Cervical C2/C3 ve... |
OMIM:616549 |
Aarskog-Scott Syndrome |
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Camptodactyly of finger, Abnormality of the cervical spine, Abnormal vertebral segmentation and f... |
ORPHA:915 |
Frontometaphyseal Dysplasia 1 |
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Camptodactyly of finger, Wrist flexion contracture, Partial fusion of tarsals, Genu valgum, Knee ... |
OMIM:305620 |
Spondylocarpotarsal Synostosis Syndrome |
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Hyperlordosis, Vertebral fusion, C2-C3 subluxation, Capitate-hamate fusion, Block vertebrae, Vert... |
OMIM:272460 |
Microcephaly-Cervical Spine Fusion Anomalies Syndrome |
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Fused cervical vertebrae, Hyperlordosis, Short neck, Kyphosis |
ORPHA:2522 |
Fibrodysplasia Ossificans Progressiva |
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Ectopic ossification in ligament tissue, Small cervical vertebral bodies, Ectopic ossification in... |
OMIM:135100 |
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
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Vertebral fusion, Supernumerary vertebrae, Block vertebrae, Short neck, Scoliosis, Hemivertebrae |
OMIM:271520 |
Ehlers-Danlos Syndrome, Classic-Like, 2 |
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Shoulder dislocation, Generalized joint laxity, Facet joint arthrosis, Hip dislocation, Joint hyp... |
OMIM:618000 |
Larsen Syndrome |
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Vertebral fusion, Accessory carpal bones, Spondylolysis, Cervical kyphosis, Hip dislocation, Join... |
OMIM:150250 |
Stapes Ankylosis With Broad Thumbs And Toes |
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Fused cervical vertebrae, Proximal/middle symphalangism of 5th finger |
OMIM:184460 |
Lateral Meningocele Syndrome |
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Biconcave vertebral bodies, Vertebral fusion, Kyphosis, Joint hypermobility, Short neck, Scoliosi... |
OMIM:130720 |
Koolen-De Vries Syndrome |
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Vertebral fusion, Kyphosis, Vertebral segmentation defect, Hip dislocation, Scoliosis, Joint hype... |
ORPHA:96169 |
Caudal Regression Syndrome |
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Hypoplastic vertebral bodies, Abnormal vertebral segmentation and fusion, Scoliosis, Joint stiffn... |
ORPHA:3027 |
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia |
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Shoulder dislocation, Genu varum, Anterior vertebral fusion, Radioulnar synostosis, Elbow disloca... |
OMIM:171480 |
Lamb-Shaffer Syndrome |
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Thoracic kyphosis, Fused cervical vertebrae, Scoliosis |
ORPHA:530983 |
Chromosome 8Q22.1 Duplication Syndrome |
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Limitation of joint mobility, Enlarged interphalangeal joints, Interphalangeal joint contracture ... |
OMIM:151200 |
Multiple Pterygium Syndrome, Escobar Variant |
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Neck pterygia, Flexion contracture, Multiple joint contractures, Anterior clefting of vertebral b... |
OMIM:265000 |
Mosaic Trisomy 20 |
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Vertebral fusion, Kyphosis, Fused cervical vertebrae, Vertebral segmentation defect, Spinal canal... |
ORPHA:1724 |
Koolen-De Vries Syndrome |
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Sacral dimple, Vertebral fusion, Kyphosis, Hip dislocation, Joint hypermobility, Spondylolisthesi... |
OMIM:610443 |
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis |
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Osteomyelitis, Fused cervical vertebrae, Osteolysis, Joint swelling, Osteopenia |
OMIM:612852 |
Robinow Syndrome, Autosomal Recessive 1 |
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Delayed cranial suture closure, Hypoplastic sacrum, Vertebral fusion, Thoracolumbar scoliosis, Pr... |
OMIM:268310 |
Otopalatodigital Syndrome Type 2 |
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Camptodactyly of finger, Increased bone mineral density, Synostosis of carpal bones, Carpal synos... |
ORPHA:90652 |
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1 |
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Sacral dimple, Vertebral fusion, Hyperextensibility of the finger joints, Joint hypermobility, Sh... |
OMIM:213980 |
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome |
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Cervical C2/C3 vertebral fusion |
ORPHA:370010 |
Basal Cell Nevus Syndrome 1 |
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Vertebral fusion, Vertebral wedging, Kyphoscoliosis, Scoliosis, Hemivertebrae, Irregular ossifica... |
OMIM:109400 |
Shashi-Pena Syndrome |
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Cervical C2/C3 vertebral fusion, Kyphosis, Accelerated skeletal maturation, Scoliosis, Osteoporosis |
OMIM:617190 |
Thrombocytopenia-Absent Radius Syndrome |
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Genu varum, Patellar dislocation, Fused cervical vertebrae, Hip dislocation, Scoliosis, Aplasia/H... |
ORPHA:3320 |
Frontometaphyseal Dysplasia |
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Camptodactyly of finger, Wrist flexion contracture, Limited elbow movement, Joint contracture of ... |
ORPHA:1826 |
Intellectual Developmental Disorder, Autosomal Dominant 52 |
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Cervical C2/C3 vertebral fusion, Lumbar scoliosis, Lumbar hyperlordosis |
OMIM:617796 |
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects |
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Spina bifida occulta, Fused cervical vertebrae, Butterfly vertebrae |
OMIM:619227 |
Kbg Syndrome |
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Vertebral arch anomaly, Vertebral fusion, Thoracic kyphosis, Short neck, Delayed skeletal maturation |
OMIM:148050 |
Fanconi Anemia, Complementation Group I |
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Fused cervical vertebrae, Short neck |
OMIM:609053 |
Microphthalmia, Syndromic 3 |
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Vertebral fusion, Butterfly vertebrae, Vertebral hypoplasia, Hemivertebrae |
OMIM:206900 |
Arnold-Chiari Malformation Type I |
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Stiff neck, Fused cervical vertebrae, Anteriorly placed odontoid process, Scoliosis, Cervical C2/... |
ORPHA:268882 |
Sifrim-Hitz-Weiss Syndrome |
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Fused cervical vertebrae, Flat acetabular roof, Wormian bones |
OMIM:617159 |
Duane Retraction Syndrome |
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Camptodactyly, Spina bifida occulta, Abnormal vertebral segmentation and fusion, Short neck, Abno... |
ORPHA:233 |
Atelosteogenesis, Type I |
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Vertebral hypoplasia, Fused cervical vertebrae, Elbow dislocation, Short neck, Knee dislocation, ... |
OMIM:108720 |
Myhre Syndrome |
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Vertebral fusion, Camptodactyly, Limitation of joint mobility, Enlarged vertebral pedicles, Short... |
OMIM:139210 |
Faciodigitogenital Syndrome, Autosomal Recessive |
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Hyperextensible hand joints, Vertebral fusion, Camptodactyly |
OMIM:227330 |
Thakker-Donnai Syndrome |
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Hemivertebrae, Short neck, Cervical C2/C3 vertebral fusion |
ORPHA:1780 |
Simpson-Golabi-Behmel Syndrome |
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Camptodactyly of finger, Vertebral fusion, Vertebral segmentation defect, Accelerated skeletal ma... |
ORPHA:373 |
Apert Syndrome |
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Delayed cranial suture closure, Sagittal craniosynostosis, Limited elbow movement, Humeroradial s... |
OMIM:101200 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
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Cervical hemivertebrae, Generalized joint laxity, Thoracic hemivertebrae, Fused cervical vertebra... |
ORPHA:508498 |
Acro-Renal-Ocular Syndrome |
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Vertebral segmentation defect, Vertebral fusion |
ORPHA:959 |
Aicardi Syndrome |
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Hemivertebrae, Butterfly vertebrae, Scoliosis, Block vertebrae |
OMIM:304050 |
Duane-Radial Ray Syndrome |
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Spina bifida occulta, Shoulder dislocation, Scoliosis, Fused cervical vertebrae |
OMIM:607323 |
Aicardi Syndrome |
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Butterfly vertebrae, Scoliosis, Block vertebrae |
ORPHA:50 |
Wolf-Hirschhorn Syndrome |
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Sacral dimple, Vertebral fusion, Kyphosis, Hip dislocation, Radioulnar synostosis, Abnormal stern... |
OMIM:194190 |
Robinow Syndrome |
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Radioulnar dislocation, Kyphoscoliosis, Scoliosis, Hemivertebrae, Fused thoracic vertebrae |
ORPHA:97360 |
Apert Syndrome |
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Vertebral segmentation defect, Cervical C5/C6 vertebrae fusion |
ORPHA:87 |
Frontometaphyseal Dysplasia 2 |
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Hip contracture, Fused cervical vertebrae, Camptodactyly, Elbow contracture, Dislocated radial he... |
OMIM:617137 |
Cardiospondylocarpofacial Syndrome |
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Fusion of middle ear ossicles, Fused cervical vertebrae, Carpal synostosis, Joint laxity, Joint h... |
OMIM:157800 |
Chops Syndrome |
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Tracheomalacia, Cervical C2/C3 vertebral fusion |
OMIM:616368 |
Thrombocytopenia-Absent Radius Syndrome |
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Genu varum, Patellar dislocation, Patellar aplasia, Fused cervical vertebrae, Hip dislocation, Ca... |
OMIM:274000 |
Heterotaxy, Visceral, 1, X-Linked |
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Congenital hip dislocation, Absence of the sacrum, Block vertebrae |
OMIM:306955 |
Chromosome 16P13.3 Duplication Syndrome |
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Sacral dimple, Tracheobronchomalacia, Camptodactyly, Hip dislocation, Short neck, Cervical C5/C6 ... |
OMIM:613458 |
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
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Hip subluxation, Abnormal vertebral morphology, Tracheomalacia, Cervical C2/C3 vertebral fusion, ... |
ORPHA:444077 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
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Coronal craniosynostosis, Fused cervical vertebrae, Contracture of the distal interphalangeal joi... |
ORPHA:83617 |
Generalized Arterial Calcification Of Infancy |
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Abnormality of the knee, Osteomalacia, Fused cervical vertebrae, Abnormal hip joint morphology, S... |
ORPHA:51608 |
Elsahy-Waters Syndrome |
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Cervical C2/C3 vertebral fusion |
OMIM:211380 |
Craniofacial Microsomia |
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Genu valgum, Vertebral hypoplasia, Block vertebrae, Scoliosis, Hemivertebrae |
OMIM:164210 |