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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Tarsal synostosis, Posterior fusion of lumbosacral vertebrae, Abnormal form of the vertebral bodi... |
ORPHA:2064 |
Microcephaly With Cervical Spine Fusion Anomalies |
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Spinal instability, Vertebral fusion |
OMIM:251250 |
Multiple Synostoses Syndrome 2 |
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Tarsal synostosis, Proximal symphalangism, Vertebral fusion, Finger symphalangism, Carpal synosto... |
OMIM:610017 |
Klippel-Feil Syndrome 3, Autosomal Dominant |
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Thoracic scoliosis, Cervical C5/C6 vertebrae fusion, Cervical C3/C4 vertebral fusion |
OMIM:613702 |
Spondylocostal Dysostosis 1, Autosomal Recessive |
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Abnormality of the odontoid process, Vertebral fusion, Hemivertebrae, Kyphoscoliosis, Back pain, ... |
OMIM:277300 |
Spondylocostal Dysostosis 6, Autosomal Recessive |
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Spinal canal stenosis, Butterfly vertebrae, Hemivertebrae, Cervical kyphosis, Scoliosis |
OMIM:616566 |
Sacral Agenesis With Vertebral Anomalies |
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Absence of the sacrum, Abnormal vertebral morphology |
OMIM:615709 |
Familial Scheuermann Disease |
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Abnormal form of the vertebral bodies, Kyphosis |
ORPHA:3135 |
Second Metatarsal-Metacarpal Syndrome |
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Synostosis of carpals/tarsals, Platyspondyly |
OMIM:269630 |
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B |
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Tarsal synostosis, Antecubital pterygium, Fused cervical vertebrae, Short neck, Flexion contractu... |
OMIM:618469 |
Spondylocostal Dysostosis 4, Autosomal Recessive |
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Abnormality of the odontoid process, Vertebral fusion, Hemivertebrae, Block vertebrae, Spina bifi... |
OMIM:613686 |
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome |
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Abnormal sacrum morphology, Thoracic hemivertebrae, Scoliosis, Fused cervical vertebrae |
ORPHA:1436 |
Acrodysplasia Scoliosis |
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Vertebral segmentation defect, Scoliosis, Spina bifida occulta |
ORPHA:2956 |
Symphalangism Of Toes |
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Synostosis involving bones of the toes |
OMIM:185600 |
Spondylocostal Dysostosis 5 |
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Butterfly vertebrae, Vertebral fusion, Hemivertebrae, Short neck, Scoliosis, Low back pain |
OMIM:122600 |
Mental Retardation, Skeletal Dysplasia, And Abducens Palsy |
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Prominent metopic ridge, Thoracic hemivertebrae, Scoliosis, Fused cervical vertebrae |
OMIM:309620 |
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A |
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Tarsal synostosis, Vertebral fusion, Hip contracture, Hemivertebrae, Craniosynostosis, Arthrogryp... |
OMIM:178110 |
Dextrocardia With Unusual Facies And Microphthalmia |
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Vertebral segmentation defect, Vertebral fusion |
OMIM:221950 |
Brachydactyly, Type B1 |
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Vertebral fusion, Hemivertebrae, Joint contracture of the hand, Hypoplastic sacrum, Camptodactyly... |
OMIM:113000 |
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 |
Spondylocostal Dysostosis 3, Autosomal Recessive |
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Kyphosis, Scoliosis, Hypoplasia of the odontoid process, Vertebral segmentation defect, Supernume... |
OMIM:609813 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3 |
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Sacral dimple, Vertebral segmentation defect, Vertebral fusion |
OMIM:618845 |
Klippel-Feil Syndrome 2, Autosomal Recessive |
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Short neck, Cervical C2/C3 vertebral fusion, Scoliosis, Fused cervical vertebrae |
OMIM:214300 |
Diaphanospondylodysostosis |
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Abnormal vertebral segmentation and fusion, Short neck, Absent or minimally ossified vertebral bo... |
ORPHA:66637 |
Spondylocostal Dysostosis 2, Autosomal Recessive |
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Vertebral clefting, Short neck, Vertebral segmentation defect, Hemivertebrae |
OMIM:608681 |
Spinal Dysplasia, Anhalt Type |
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Spinal dysplasia, Osteoarthritis of the small joints of the hand, Absent spinous processes of low... |
OMIM:601344 |
Keratoconus Posticus Circumscriptus |
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Short neck, Abnormal vertebral segmentation and fusion, Limited elbow extension and supination |
OMIM:244600 |
Wildervanck Syndrome |
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Fused cervical vertebrae |
OMIM:314600 |
Isolated Klippel-Feil Syndrome |
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Abnormality of the vertebral column, Abnormal sacrum morphology, Abnormal vertebral segmentation ... |
ORPHA:2345 |
Verheij Syndrome |
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Vertebral fusion, Hemivertebrae, Hip dislocation, Short neck, Scoliosis |
OMIM:615583 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5 |
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Vertebral fusion, Achilles tendon contracture, Kyphosis, Hyperlordosis, Scoliosis |
OMIM:606612 |
Mayer-Rokitansky-Küster-Hauser Syndrome |
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Abnormal sacrum morphology, Abnormal form of the vertebral bodies, Vertebral segmentation defect,... |
ORPHA:3109 |
Asymmetric Short Stature Syndrome |
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Lumbar scoliosis, Fused cervical vertebrae |
OMIM:108450 |
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome |
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Vertebral fusion, Hemivertebrae, Abnormal form of the vertebral bodies, Kyphosis, Patellar disloc... |
ORPHA:2916 |
Developmental And Speech Delay Due To Sox5 Deficiency |
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Thoracic kyphoscoliosis, Butterfly vertebrae, Vertebral fusion, Scoliosis, Lumbar hyperlordosis |
ORPHA:313892 |
Familial Congenital Mirror Movements |
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Fused cervical vertebrae |
ORPHA:238722 |
Kbg Syndrome |
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Vertebral fusion, Thoracic kyphosis, Delayed skeletal maturation, Short neck, Scoliosis, Persiste... |
ORPHA:2332 |
Otopalatodigital Syndrome Type 1 |
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Abnormal vertebral segmentation and fusion, Synostosis of carpal bones, Increased bone mineral de... |
ORPHA:90650 |
Alkaptonuria |
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Vertebral fusion, Intervertebral disc degeneration, Arthritis, Kyphosis, Limited hip movement, Li... |
OMIM:203500 |
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type |
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Genu varum, Reduced bone mineral density, Intervertebral space narrowing, Vertebral fusion, Verte... |
ORPHA:93315 |
Multiple Pterygium Syndrome, X-Linked |
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Vertebral fusion, Increased susceptibility to fractures, Joint dislocation, Flexion contracture, ... |
OMIM:312150 |
Gorlin Syndrome |
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Hemivertebrae, Scoliosis, Vertebral fusion, Vertebral wedging |
ORPHA:377 |
Sprengel Deformity |
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Cervical segmentation defect, Spina bifida occulta, Scoliosis, Hemivertebrae |
OMIM:184400 |
Multiple Pterygium Syndrome, Lethal Type |
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Vertebral fusion, Increased susceptibility to fractures, Joint dislocation, Flexion contracture, ... |
OMIM:253290 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5 |
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Vertebral fusion, Achilles tendon contracture, Kyphosis, Hyperlordosis, Scoliosis |
OMIM:607155 |
Kniest Dysplasia |
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Coronal cleft vertebrae, Vertebral wedging, Laryngotracheomalacia, Abnormal joint morphology, Del... |
ORPHA:485 |
Ring Chromosome 21 Syndrome |
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Fused thoracic vertebrae, Thoracic hemivertebrae, Scoliosis |
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 |
Wildervanck Syndrome |
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Short neck, Fused cervical vertebrae |
ORPHA:3456 |
Aarskog-Scott Syndrome |
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Abnormal vertebral segmentation and fusion, Abnormality of the cervical spine, Genu recurvatum, C... |
ORPHA:915 |
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism |
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Cervical C2/C3 vertebral fusion, Flexion contracture, Acetabular dysplasia, Short neck, Thoracolu... |
OMIM:616549 |
Kbg Syndrome |
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Vertebral arch anomaly, Thoracic kyphosis, Vertebral fusion, Delayed skeletal maturation |
OMIM:148050 |
Polydactyly, Postaxial, With Dental And Vertebral Anomalies |
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Tarsal synostosis, Spinal canal stenosis, Vertebral fusion, Hemivertebrae, Kyphoscoliosis, Hypopl... |
OMIM:263540 |
Fibrodysplasia Ossificans Progressiva |
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Ectopic ossification in muscle tissue, Ectopic ossification in ligament tissue, Progressive cervi... |
OMIM:135100 |
Frontometaphyseal Dysplasia 1 |
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Increased density of long bone diaphyses, Ankle flexion contracture, Partial fusion of carpals, K... |
OMIM:305620 |
Microcephaly-Cervical Spine Fusion Anomalies Syndrome |
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Short neck, Hyperlordosis, Fused cervical vertebrae, Kyphosis |
ORPHA:2522 |
Lateral Meningocele Syndrome |
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Biconcave vertebral bodies, Vertebral fusion, Sclerosis of skull base, Wormian bones, Kyphosis, J... |
OMIM:130720 |
Spondylocarpotarsal Synostosis Syndrome |
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Tarsal synostosis, Hypoplasia of the odontoid process, Vertebral fusion, Capitate-hamate fusion, ... |
OMIM:272460 |
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
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Vertebral fusion, Hemivertebrae, Supernumerary vertebrae, Block vertebrae, Short neck, Scoliosis |
OMIM:271520 |
Cardiospondylocarpofacial Syndrome |
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Tarsal synostosis, Fused cervical vertebrae, Carpal synostosis, Delayed skeletal maturation, Syno... |
OMIM:157800 |
Stapes Ankylosis With Broad Thumbs And Toes |
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Proximal/middle symphalangism of 5th finger, Fused cervical vertebrae |
OMIM:184460 |
Caudal Regression Sequence |
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Abnormal vertebral segmentation and fusion, Aplasia/Hypoplasia of the sacrum, Hypoplastic vertebr... |
ORPHA:3027 |
Koolen-De Vries Syndrome |
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Vertebral fusion, Kyphosis, Hip dislocation, Vertebral segmentation defect, Scoliosis, Joint hype... |
ORPHA:96169 |
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia |
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Genu varum, Shoulder dislocation, Anterior vertebral fusion, Elbow dislocation, Radioulnar synost... |
OMIM:171480 |
Lamb-Shaffer Syndrome |
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Thoracic kyphosis, Scoliosis, Fused cervical vertebrae |
ORPHA:530983 |
Microphthalmia, Syndromic 3 |
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Butterfly vertebrae, Vertebral fusion, Hemivertebrae, Vertebral hypoplasia |
OMIM:206900 |
Mosaic Trisomy 20 |
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Limited pronation/supination of forearm, Spinal canal stenosis, Vertebral fusion, Kyphosis, Fused... |
ORPHA:1724 |
Multiple Pterygium Syndrome, Escobar Variant |
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Dysplastic patella, Popliteal pterygium, Intercrural pterygium, Patellar aplasia, Neck pterygia, ... |
OMIM:265000 |
Koolen-De Vries Syndrome |
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Vertebral fusion, Kyphosis, Joint hypermobility, Hip dislocation, Sacral dimple, Spondylolisthesi... |
OMIM:610443 |
Otopalatodigital Syndrome Type 2 |
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Tarsal synostosis, Abnormal vertebral segmentation and fusion, Synostosis of carpal bones, Carpal... |
ORPHA:90652 |
Spondylocostal Dysostosis-Anal Atresia-Genitourinary Malformation Syndrome |
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Short neck, Scoliosis, Vertebral fusion, Hemivertebrae |
ORPHA:94095 |
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis |
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Osteomyelitis, Fused cervical vertebrae, Osteopenia, Joint swelling, Osteolysis |
OMIM:612852 |
Basal Cell Nevus Syndrome |
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Irregular ossification of hand bones, Vertebral fusion, Hemivertebrae, Vertebral wedging, Kyphosc... |
OMIM:109400 |
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome |
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Cervical C2/C3 vertebral fusion |
ORPHA:370010 |
Robinow Syndrome, Autosomal Recessive 1 |
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Vertebral fusion, Thoracolumbar scoliosis, Hypoplastic sacrum, Thoracic hemivertebrae, Delayed sk... |
OMIM:268310 |
Thrombocytopenia-Absent Radius Syndrome |
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Aplasia/Hypoplasia of the patella, Genu varum, Fused cervical vertebrae, Hip dislocation, Patella... |
ORPHA:3320 |
Frontometaphyseal Dysplasia |
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Interphalangeal joint contracture of finger, Limitation of movement at ankles, Sclerosis of skull... |
ORPHA:1826 |
Fanconi Anemia, Complementation Group I |
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Short neck, Fused cervical vertebrae |
OMIM:609053 |
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects |
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Spina bifida occulta, Butterfly vertebrae, Fused cervical vertebrae |
OMIM:619227 |
Arnold-Chiari Malformation Type I |
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Stiff neck, Cervical C2/C3 vertebral fusion, Fused cervical vertebrae, Anteriorly placed odontoid... |
ORPHA:268882 |
Duane Retraction Syndrome |
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Abnormal vertebral segmentation and fusion, Abnormal form of the vertebral bodies, Camptodactyly,... |
ORPHA:233 |
Atelosteogenesis, Type I |
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Knee dislocation, Coronal cleft vertebrae, Fused cervical vertebrae, Vertebral hypoplasia, Thorac... |
OMIM:108720 |
Myhre Syndrome |
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Vertebral fusion, Platyspondyly, Enlarged vertebral pedicles, Limitation of joint mobility, Campt... |
OMIM:139210 |
Thakker-Donnai Syndrome |
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Short neck, Cervical C2/C3 vertebral fusion, Hemivertebrae |
ORPHA:1780 |
Acro-Renal-Ocular Syndrome |
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Vertebral segmentation defect, Vertebral fusion |
ORPHA:959 |
Faciodigitogenital Syndrome, Autosomal Recessive |
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Hyperextensible hand joints, Vertebral fusion, Camptodactyly |
OMIM:227330 |
Simpson-Golabi-Behmel Syndrome |
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Vertebral fusion, Congenital hip dislocation, Camptodactyly of finger, Accelerated skeletal matur... |
ORPHA:373 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
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Generalized joint laxity, Fused cervical vertebrae, Hip dislocation, Cervical hemivertebrae, Thor... |
ORPHA:508498 |
Aicardi Syndrome |
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Butterfly vertebrae, Scoliosis, Hemivertebrae, Block vertebrae |
OMIM:304050 |
Craniofacial Microsomia |
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Vertebral hypoplasia, Hemivertebrae, Block vertebrae |
OMIM:164210 |
Aicardi Syndrome |
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Butterfly vertebrae, Scoliosis, Block vertebrae |
ORPHA:50 |
Apert Syndrome |
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Cervical C5/C6 vertebrae fusion, Synostosis of carpal bones, Coronal craniosynostosis, Delayed cr... |
OMIM:101200 |
Robinow Syndrome |
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Hemivertebrae, Kyphoscoliosis, Radioulnar dislocation, Fused thoracic vertebrae, Scoliosis |
ORPHA:97360 |
Wolf-Hirschhorn Syndrome |
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Vertebral fusion, Abnormal sternal ossification, Abnormal form of the vertebral bodies, Kyphosis,... |
OMIM:194190 |
Thrombocytopenia-Absent Radius Syndrome |
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Genu varum, Patellar aplasia, Fused cervical vertebrae, Hip dislocation, Carpal synostosis, Patel... |
OMIM:274000 |
Duane-Radial Ray Syndrome |
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Spina bifida occulta, Scoliosis, Fused cervical vertebrae |
OMIM:607323 |
Apert Syndrome |
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Cervical C5/C6 vertebrae fusion, Vertebral segmentation defect |
ORPHA:87 |
Frontometaphyseal Dysplasia 2 |
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Hip contracture, Dislocated radial head, Congenital hip dislocation, Fused cervical vertebrae, Ca... |
OMIM:617137 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
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Coronal craniosynostosis, Cleft vertebral arch, Contracture of the distal interphalangeal joint o... |
ORPHA:83617 |
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
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Abnormal vertebral morphology, Cervical C2/C3 vertebral fusion, Wormian bones, Hip subluxation, T... |
ORPHA:444077 |
Generalized Arterial Calcification Of Infancy |
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Abnormal calcification of the carpal bones, Abnormal hip joint morphology, Stippled calcification... |
ORPHA:51608 |