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, Tarsal synostosis, Abnormal form of the... |
ORPHA:2064 |
Microcephaly With Cervical Spine Fusion Anomalies |
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Spinal instability, Vertebral fusion |
OMIM:251250 |
Klippel-Feil Syndrome 3, Autosomal Dominant |
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Thoracic scoliosis, Cervical C3/C4 vertebral fusion, Cervical C5/C6 vertebrae fusion |
OMIM:613702 |
Multiple Synostoses Syndrome 2 |
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Finger symphalangism, Tarsal synostosis, Proximal symphalangism, Humeroradial synostosis, Carpal ... |
OMIM:610017 |
Spondylocostal Dysostosis 6, Autosomal Recessive |
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Butterfly vertebrae, Scoliosis, Hemivertebrae, Spinal canal stenosis, Cervical kyphosis |
OMIM:616566 |
Second Metatarsal-Metacarpal Syndrome |
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Platyspondyly, Synostosis of carpals/tarsals |
OMIM:269630 |
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B |
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Tarsal synostosis, Fused cervical vertebrae, Scoliosis, Antecubital pterygium, Flexion contractur... |
OMIM:618469 |
Spondylocostal Dysostosis 1, Autosomal Recessive |
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Kyphoscoliosis, Abnormal odontoid process morphology, Hemivertebrae, Vertebral segmentation defec... |
OMIM:277300 |
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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Scoliosis, Abnormal sacrum morphology, Fused cervical vertebrae, Thoracic hemivertebrae |
ORPHA:1436 |
Acrodysplasia Scoliosis |
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Scoliosis, Vertebral segmentation defect, Spina bifida occulta |
ORPHA:2956 |
Spondylocostal Dysostosis 5 |
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Butterfly vertebrae, Scoliosis, Hemivertebrae, Low back pain, Short neck, Vertebral fusion |
OMIM:122600 |
Mental Retardation, Skeletal Dysplasia, And Abducens Palsy |
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Scoliosis, Fused cervical vertebrae, Thoracic hemivertebrae, Prominent metopic ridge |
OMIM:309620 |
Diaphanospondylodysostosis |
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Absent or minimally ossified vertebral bodies, Short neck, Abnormal vertebral segmentation and fu... |
ORPHA:66637 |
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods |
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Fusion of midcervical facet joints, Widening of cervical spinal canal, Cervical vertebral bodies ... |
OMIM:606842 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3 |
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Sacral dimple, Vertebral fusion, Vertebral segmentation defect |
OMIM:618845 |
Klippel-Feil Syndrome 2, Autosomal Recessive |
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Short neck, Scoliosis, Fused cervical vertebrae, Cervical C2/C3 vertebral fusion |
OMIM:214300 |
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A |
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Cervical spinal canal stenosis, Popliteal pterygium, Tarsal synostosis, Spondylolisthesis, Multip... |
OMIM:178110 |
Brachydactyly, Type B1 |
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Joint contracture of the hand, Hypoplastic sacrum, Delayed cranial suture closure, Hemivertebrae,... |
OMIM:113000 |
Keratoconus Posticus Circumscriptus |
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Short neck, Limited elbow extension and supination, Abnormal vertebral segmentation and fusion |
OMIM:244600 |
Isolated Klippel-Feil Syndrome |
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Cervical C2/C3 vertebral fusion, Abnormality of the vertebral column, Scoliosis, Short neck, Abno... |
ORPHA:2345 |
Wildervanck Syndrome |
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Fused cervical vertebrae |
OMIM:314600 |
Developmental And Speech Delay Due To Sox5 Deficiency |
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Butterfly vertebrae, Scoliosis, Thoracic kyphoscoliosis, Lumbar hyperlordosis, Vertebral fusion |
ORPHA:313892 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5 |
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Scoliosis, Hyperlordosis, Kyphosis, Achilles tendon contracture, Elbow contracture, Vertebral fusion |
OMIM:606612 |
Spondylocostal Dysostosis 4, Autosomal Recessive |
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Abnormal odontoid process morphology, Spina bifida occulta, Scoliosis, Hemivertebrae, Vertebral s... |
OMIM:613686 |
Familial Congenital Mirror Movements |
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Fused cervical vertebrae |
ORPHA:238722 |
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome |
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Abnormal form of the vertebral bodies, Scoliosis, Hemivertebrae, Kyphosis, Hypoplastic vertebral ... |
ORPHA:2916 |
Kbg Syndrome |
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Scoliosis, Thoracic kyphosis, Persistent open anterior fontanelle, Delayed skeletal maturation, S... |
ORPHA:2332 |
Otopalatodigital Syndrome Type 1 |
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Increased bone mineral density, Limitation of joint mobility, Synostosis of carpal bones, Elbow d... |
ORPHA:90650 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5 |
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Scoliosis, Hyperlordosis, Kyphosis, Achilles tendon contracture, Vertebral fusion |
OMIM:607155 |
Kniest Dysplasia |
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Fused cervical vertebrae, Platyspondyly, Delayed epiphyseal ossification, Vertebral wedging, Arth... |
ORPHA:485 |
Multiple Pterygium Syndrome, X-Linked |
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Multiple pterygia, Joint dislocation, Abnormal cervical curvature, Vertebral fusion, Flexion cont... |
OMIM:312150 |
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type |
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Abnormal bone ossification, Reduced bone mineral density, Biconvex vertebral bodies, Biconcave ve... |
ORPHA:93315 |
Verheij Syndrome |
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Scoliosis, Hemivertebrae, Joint hypermobility, Short neck, Hip dislocation, Vertebral fusion |
OMIM:615583 |
Multiple Pterygium Syndrome, Lethal Type |
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Multiple pterygia, Joint dislocation, Abnormal cervical curvature, Vertebral fusion, Flexion cont... |
OMIM:253290 |
Ring Chromosome 21 Syndrome |
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Scoliosis, Thoracic hemivertebrae, Fused thoracic vertebrae |
ORPHA:1445 |
Wildervanck Syndrome |
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Short neck, Fused cervical vertebrae |
ORPHA:3456 |
Klippel-Feil Syndrome 1, Autosomal Dominant |
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Abnormal vertebral segmentation and fusion, Short neck, Scoliosis, Cervical C2/C3 vertebral fusion |
OMIM:118100 |
Alkaptonuria |
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Limitation of knee mobility, Intervertebral disk degeneration, Arthritis, Arthropathy, Kyphosis, ... |
OMIM:203500 |
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism |
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Cervical C2/C3 vertebral fusion, Thoracolumbar scoliosis, Flexion contracture, Acetabular dysplas... |
OMIM:616549 |
Aarskog-Scott Syndrome |
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Genu recurvatum, Camptodactyly of finger, Joint hypermobility, Short neck, Abnormality of the cer... |
ORPHA:915 |
Frontometaphyseal Dysplasia 1 |
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Limited elbow movement, Ankle flexion contracture, Genu valgum, Fused cervical vertebrae, Cervica... |
OMIM:305620 |
Spondylocarpotarsal Synostosis Syndrome |
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Limited elbow extension, Tarsal synostosis, Scoliosis, Hyperlordosis, Vertebral segmentation defe... |
OMIM:272460 |
Microcephaly-Cervical Spine Fusion Anomalies Syndrome |
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Short neck, Hyperlordosis, Fused cervical vertebrae, Kyphosis |
ORPHA:2522 |
Fibrodysplasia Ossificans Progressiva |
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Ectopic ossification in tendon tissue, Scoliosis, Ectopic ossification in ligament tissue, Ectopi... |
OMIM:135100 |
Ehlers-Danlos Syndrome, Classic-Like, 2 |
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Osteopenia, Generalized joint hypermobility, Cervical C2/C3 vertebral fusion, Shoulder dislocatio... |
OMIM:618000 |
Larsen Syndrome |
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Beaking of vertebral bodies, Multiple carpal ossification centers, Spondylolysis, Spina bifida oc... |
OMIM:150250 |
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
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Scoliosis, Hemivertebrae, Block vertebrae, Short neck, Supernumerary vertebrae, Vertebral fusion |
OMIM:271520 |
Stapes Ankylosis With Broad Thumbs And Toes |
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Proximal/middle symphalangism of 5th finger, Fused cervical vertebrae |
OMIM:184460 |
Caudal Regression Syndrome |
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Aplasia/Hypoplasia of the sacrum, Scoliosis, Joint stiffness, Hypoplastic vertebral bodies, Abnor... |
ORPHA:3027 |
Chromosome 8Q22.1 Duplication Syndrome |
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Cubitus valgus, Cervical C2/C3 vertebral fusion, Genu recurvatum, Limitation of joint mobility, J... |
OMIM:151200 |
Lateral Meningocele Syndrome |
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Scoliosis, Wormian bones, Kyphosis, Biconcave vertebral bodies, Sclerosis of skull base, Joint hy... |
OMIM:130720 |
Lamb-Shaffer Syndrome |
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Scoliosis, Thoracic kyphosis, Fused cervical vertebrae |
ORPHA:530983 |
Koolen-De Vries Syndrome |
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Scoliosis, Vertebral segmentation defect, Kyphosis, Joint hypermobility, Hip dislocation, Vertebr... |
ORPHA:96169 |
Multiple Pterygium Syndrome, Escobar Variant |
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Dislocated radial head, Kyphosis, Hip dislocation, Axillary pterygium, Pterygium, Scoliosis, Neck... |
OMIM:265000 |
Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis |
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Joint hypermobility, Cervical C2/C3 vertebral fusion, Camptodactyly |
OMIM:617333 |
Mosaic Trisomy 20 |
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Fused cervical vertebrae, Scoliosis, Vertebral segmentation defect, Kyphosis, Spinal canal stenos... |
ORPHA:1724 |
Koolen-De Vries Syndrome |
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Sacral dimple, Spondylolisthesis, Scoliosis, Kyphosis, Prominent metopic ridge, Vertebral fusion,... |
OMIM:610443 |
Mayer-Rokitansky-Küster-Hauser Syndrome |
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Abnormal sacrum morphology, Vertebral segmentation defect, Vertebral fusion, Abnormal form of the... |
ORPHA:3109 |
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis |
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Osteopenia, Fused cervical vertebrae, Osteolysis, Joint swelling, Osteomyelitis |
OMIM:612852 |
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome |
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Cervical C2/C3 vertebral fusion |
ORPHA:370010 |
Gorlin Syndrome |
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Abnormal vertebral morphology, Vertebral wedging, Scoliosis, Hemivertebrae, Vertebral fusion |
ORPHA:377 |
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1 |
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Beaking of vertebral bodies, Sacral dimple, Hyperextensibility of the finger joints, Scoliosis, H... |
OMIM:213980 |
Otopalatodigital Syndrome Type 2 |
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Tarsal synostosis, Increased bone mineral density, Scoliosis, Synostosis of carpal bones, Camptod... |
ORPHA:90652 |
Shashi-Pena Syndrome |
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Cervical C2/C3 vertebral fusion, Scoliosis, Osteoporosis, Kyphosis, Accelerated skeletal maturation |
OMIM:617190 |
Robinow Syndrome, Autosomal Recessive 1 |
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Hypoplastic sacrum, Sacral dimple, Dislocated radial head, Scoliosis, Hemivertebrae, Proximal/mid... |
OMIM:268310 |
Basal Cell Nevus Syndrome 1 |
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Kyphoscoliosis, Vertebral wedging, Scoliosis, Hemivertebrae, Irregular ossification of hand bones... |
OMIM:109400 |
Frontometaphyseal Dysplasia |
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Limited elbow movement, Limitation of knee mobility, Fused cervical vertebrae, Spina bifida occul... |
ORPHA:1826 |
Thrombocytopenia-Absent Radius Syndrome |
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Fused cervical vertebrae, Aplasia/Hypoplasia of the patella, Scoliosis, Patellar dislocation, Gen... |
ORPHA:3320 |
Intellectual Developmental Disorder, Autosomal Dominant 52 |
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Lumbar scoliosis, Cervical C2/C3 vertebral fusion, Lumbar hyperlordosis |
OMIM:617796 |
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects |
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Butterfly vertebrae, Fused cervical vertebrae, Spina bifida occulta |
OMIM:619227 |
Fanconi Anemia, Complementation Group I |
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Short neck, Fused cervical vertebrae |
OMIM:609053 |
Kbg Syndrome |
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Thoracic kyphosis, Delayed skeletal maturation, Short neck, Vertebral arch anomaly, Vertebral fusion |
OMIM:148050 |
Arnold-Chiari Malformation Type I |
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Stiff neck, Fused cervical vertebrae, Cervical C2/C3 vertebral fusion, Scoliosis, Anteriorly plac... |
ORPHA:268882 |
Microphthalmia, Syndromic 3 |
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Butterfly vertebrae, Hemivertebrae, Vertebral hypoplasia, Vertebral fusion |
OMIM:206900 |
Sifrim-Hitz-Weiss Syndrome |
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Wormian bones, Fused cervical vertebrae, Flat acetabular roof |
OMIM:617159 |
Myhre Syndrome |
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Enlarged vertebral pedicles, Limitation of joint mobility, Camptodactyly, Joint stiffness, Platys... |
OMIM:139210 |
Atelosteogenesis, Type I |
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Thoracic platyspondyly, Fused cervical vertebrae, Vertebral hypoplasia, Coronal cleft vertebrae, ... |
OMIM:108720 |
Duane Retraction Syndrome |
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Spina bifida occulta, Abnormal form of the vertebral bodies, Camptodactyly, Short neck, Abnormal ... |
ORPHA:233 |
Thakker-Donnai Syndrome |
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Short neck, Hemivertebrae, Cervical C2/C3 vertebral fusion |
ORPHA:1780 |
Faciodigitogenital Syndrome, Autosomal Recessive |
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Hyperextensible hand joints, Camptodactyly, Vertebral fusion |
OMIM:227330 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
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Shoulder subluxation, Fused cervical vertebrae, Thoracic kyphosis, Hypermobility of interphalange... |
ORPHA:508498 |
Apert Syndrome |
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Limited elbow movement, Lambdoidal craniosynostosis, Delayed epiphyseal ossification, Delayed cra... |
OMIM:101200 |
Simpson-Golabi-Behmel Syndrome |
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Scoliosis, Vertebral segmentation defect, Congenital hip dislocation, Camptodactyly of finger, Ac... |
ORPHA:373 |
Acro-Renal-Ocular Syndrome |
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Vertebral segmentation defect, Vertebral fusion |
ORPHA:959 |
Duane-Radial Ray Syndrome |
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Shoulder dislocation, Scoliosis, Fused cervical vertebrae, Spina bifida occulta |
OMIM:607323 |
Aicardi Syndrome |
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Butterfly vertebrae, Scoliosis, Hemivertebrae, Block vertebrae |
OMIM:304050 |
Aicardi Syndrome |
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Butterfly vertebrae, Scoliosis, Block vertebrae |
ORPHA:50 |
Wolf-Hirschhorn Syndrome |
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Sacral dimple, Abnormal sternal ossification, Abnormal form of the vertebral bodies, Scoliosis, K... |
OMIM:194190 |
Frontometaphyseal Dysplasia 2 |
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Fused cervical vertebrae, Dislocated radial head, Scoliosis, Camptodactyly, Congenital hip disloc... |
OMIM:617137 |
Apert Syndrome |
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Vertebral segmentation defect, Cervical C5/C6 vertebrae fusion |
ORPHA:87 |
Robinow Syndrome |
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Kyphoscoliosis, Scoliosis, Hemivertebrae, Fused thoracic vertebrae |
ORPHA:97360 |
Cardiospondylocarpofacial Syndrome |
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Tarsal synostosis, Fused cervical vertebrae, Scoliosis, Fusion of middle ear ossicles, Delayed sk... |
OMIM:157800 |
Chops Syndrome |
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Cervical C2/C3 vertebral fusion, Tracheomalacia |
OMIM:616368 |
Thrombocytopenia-Absent Radius Syndrome |
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Carpal bone hypoplasia, Fused cervical vertebrae, Patellar aplasia, Patellar dislocation, Genu va... |
OMIM:274000 |
Heterotaxy, Visceral, 1, X-Linked |
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Block vertebrae, Absence of the sacrum, Congenital hip dislocation |
OMIM:306955 |
Chromosome 16P13.3 Duplication Syndrome |
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Sacral dimple, Tracheobronchomalacia, Camptodactyly, Cervical C5/C6 vertebrae fusion, Short neck,... |
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, Cervical C2/C3 vertebral fusion, Tracheomalacia, ... |
ORPHA:444077 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
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Coronal craniosynostosis, Fused cervical vertebrae, Cleft vertebral arch, Contracture of the dist... |
ORPHA:83617 |
Generalized Arterial Calcification Of Infancy |
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Stippled calcification of the elbow, Hypophosphatemic rickets, Fused cervical vertebrae, Abnormal... |
ORPHA:51608 |
Elsahy-Waters Syndrome |
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Cervical C2/C3 vertebral fusion |
OMIM:211380 |
Craniofacial Microsomia 1 |
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Genu valgum, Scoliosis, Hemivertebrae, Vertebral hypoplasia, Block vertebrae |
OMIM:164210 |
Holt-Oram Syndrome |
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Limited elbow extension, Abnormal carpal morphology, Sacral dimple, Cervical C2/C3 vertebral fusi... |
OMIM:142900 |