Cervical Vertebral Dysplasia |
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Cervical vertebral dysplasia, Cervical vertebral facet hypoplasia, Anterior atlanto-occipital dis... |
OMIM:118005 |
Spondylocostal Dysostosis 2, Autosomal Recessive |
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Vertebral segmentation defect, Rib fusion, Short neck, Vertebral clefting, Hemivertebrae |
OMIM:608681 |
Brachyolmia, Maroteaux Type |
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Platyspondyly, Abnormal form of the vertebral bodies, Short thorax, Pectus excavatum, Scoliosis |
ORPHA:93302 |
Spondylocostal Dysostosis 3, Autosomal Recessive |
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Hypoplasia of the odontoid process, Supernumerary vertebral ossification centers, Vertebral segme... |
OMIM:609813 |
Sprengel Deformity |
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Rib segmentation abnormalities, Sprengel anomaly, Hemivertebrae, Spina bifida occulta, Cervical s... |
OMIM:184400 |
Primary Basilar Invagination |
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Abnormal vertebral morphology, Abnormality of the cervical spine, Short neck |
ORPHA:2285 |
Autosomal Dominant Brachyolmia |
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Platyspondyly, Increased vertebral height, Short thorax, Kyphoscoliosis |
ORPHA:93304 |
Klippel-Feil Syndrome 3, Autosomal Dominant |
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Cervical C5/C6 vertebrae fusion, Cervical C3/C4 vertebral fusion, Thoracic scoliosis |
OMIM:613702 |
Spondylocostal Dysostosis 6, Autosomal Recessive |
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Cervical kyphosis, Spinal canal stenosis, Butterfly vertebrae, Hemivertebrae, Scoliosis |
OMIM:616566 |
Spondylocostal Dysostosis 5 |
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Pectus carinatum, Butterfly vertebrae, Low back pain, Missing ribs, Short neck, Supernumerary rib... |
OMIM:122600 |
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome |
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Pectus carinatum, Scoliosis, Abnormal rib morphology |
ORPHA:3268 |
Heart Defects-Limb Shortening Syndrome |
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Narrow chest, Kyphosis, Abnormal form of the vertebral bodies, Abnormal rib morphology |
ORPHA:1354 |
Endosteal Hyperostosis, Worth Type |
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Sclerotic vertebral body, Clavicular sclerosis, Abnormal form of the vertebral bodies, Abnormal r... |
ORPHA:2790 |
Osteomesopyknosis |
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Sclerotic vertebral body, Scoliosis, Abnormal form of the vertebral bodies, Kyphosis |
ORPHA:2777 |
Becker Nevus Syndrome |
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Pectus excavatum, Scoliosis, Hemivertebrae, Cervical ribs |
OMIM:604919 |
Hypogonadism, Male, With Impaired Intellectual Development And Skeletal Anomalies |
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Abnormality of the cervical spine, Superior rib anomalies |
OMIM:307500 |
Kyphomelic Dysplasia |
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Narrow chest, Abnormal form of the vertebral bodies, Undulate ribs, Missing ribs, Anterior rib cu... |
ORPHA:1801 |
Spondylocostal Dysostosis 1, Autosomal Recessive |
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Block vertebrae, Abnormal odontoid process morphology, Vertebral segmentation defect, Kyphoscolio... |
OMIM:277300 |
Neurogenic Thoracic Outlet Syndrome |
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Abnormal rib morphology |
ORPHA:100073 |
Autosomal Dominant Spondylocostal Dysostosis |
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Abnormal rib morphology, Vertebral segmentation defect, Missing ribs, Short neck, Hyperlordosis, ... |
ORPHA:1797 |
Spondylometaphyseal Dysplasia, A4 Type |
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Platyspondyly, Flared, irregular rib ends |
ORPHA:168555 |
Thoracolaryngopelvic Dysplasia |
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Bell-shaped thorax, Horizontal ribs, Short ribs, Irregular chondrocostal junctions, Scoliosis, Ir... |
OMIM:187760 |
Isolated Klippel-Feil Syndrome |
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Abnormality of the vertebral column, Abnormal shoulder morphology, Cervical C2/C3 vertebral fusio... |
ORPHA:2345 |
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome |
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Fused cervical vertebrae, Abnormal sacrum morphology, Scoliosis, Thoracic hemivertebrae |
ORPHA:1436 |
Klippel-Feil Syndrome 2, Autosomal Recessive |
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Cervical C2/C3 vertebral fusion, Short neck, Sprengel anomaly, Scoliosis, Fused cervical vertebrae |
OMIM:214300 |
Acrodysplasia Scoliosis |
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Spina bifida occulta, Scoliosis, Vertebral segmentation defect |
ORPHA:2956 |
Diaphanospondylodysostosis |
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Absent or minimally ossified vertebral bodies, Missing ribs, Short neck, Abnormal vertebral segme... |
ORPHA:66637 |
Metatropic Dysplasia |
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Narrow chest, Hypoplastic cervical vertebrae, Abnormal form of the vertebral bodies, Long thorax,... |
ORPHA:2635 |
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2 |
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Short neck, Abnormal rib morphology, Vertebral segmentation defect |
ORPHA:2578 |
Osteogenesis Imperfecta, Type Ix |
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Platyspondyly, Pectus carinatum, Multiple rib fractures, Pectus excavatum, Scoliosis, Kyphosis |
OMIM:259440 |
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome |
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Abnormal rib morphology |
ORPHA:2435 |
Microcephaly-Cervical Spine Fusion Anomalies Syndrome |
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Abnormal clavicle morphology, Short neck, Hyperlordosis, Abnormal rib morphology, Pectus excavatu... |
ORPHA:2522 |
Wildervanck Syndrome |
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Fused cervical vertebrae |
OMIM:314600 |
Poland Syndrome |
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Rib fusion, Sprengel anomaly, Hemivertebrae, Short ribs |
OMIM:173800 |
Osteogenesis Imperfecta, Type Xv |
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Platyspondyly, Scoliosis, Thin ribs |
OMIM:615220 |
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome |
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Short neck, Abnormal form of the vertebral bodies, Hemivertebrae, Abnormal rib morphology |
ORPHA:2234 |
Christian Syndrome |
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Fused cervical vertebrae, Scoliosis, Thoracic hemivertebrae |
OMIM:309620 |
Spondylocostal Dysostosis 4, Autosomal Recessive |
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Block vertebrae, Abnormal odontoid process morphology, Bell-shaped thorax, Vertebral segmentation... |
OMIM:613686 |
Fibrochondrogenesis 2 |
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Platyspondyly, Thoracic hypoplasia, Bell-shaped thorax, Short ribs, Cupped ribs |
OMIM:614524 |
Klippel-Feil Syndrome 1, Autosomal Dominant |
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Cervical C2/C3 vertebral fusion, Short neck, Sprengel anomaly, Abnormal rib morphology, Scoliosis... |
OMIM:118100 |
Familial Congenital Mirror Movements |
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Fused cervical vertebrae |
ORPHA:238722 |
Becker Nevus Syndrome |
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Pectus carinatum, Rib fusion, Supernumerary ribs, Pectus excavatum, Spina bifida occulta, Scolios... |
ORPHA:64755 |
Metatropic Dysplasia |
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Platyspondyly, Anisospondyly, Narrow chest, Hypoplasia of the odontoid process, Caudal appendage,... |
OMIM:156530 |
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
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Platyspondyly, Narrow chest, Abnormal clavicle morphology, Short neck, Abnormal rib morphology |
ORPHA:93267 |
Laryngotracheoesophageal Cleft Type 4 |
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Abnormal form of the vertebral bodies, Abnormal rib morphology |
ORPHA:93941 |
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B |
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Fused cervical vertebrae, Short neck, Scoliosis, Fused thoracic vertebrae |
OMIM:618469 |
Mesomelic Dysplasia, Kantaputra Type |
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Abnormal rib morphology, Vertebral segmentation defect |
ORPHA:1836 |
Fibrochondrogenesis |
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Narrow chest, Hypoplastic scapulae, Abnormal form of the vertebral bodies, Broad ribs, Bell-shape... |
ORPHA:2021 |
Septopreoptic Holoprosencephaly |
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Abnormal vertebral morphology, Abnormal rib morphology |
ORPHA:280195 |
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly |
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Narrow chest, Horizontal ribs, Lateral clavicle hook, Short ribs |
OMIM:617405 |
Axial Spondylometaphyseal Dysplasia |
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Platyspondyly, Narrow chest, Posterior wedging of vertebral bodies, Aplasia/Hypoplasia of the ver... |
ORPHA:168549 |
Autosomal Recessive Spondylocostal Dysostosis |
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Abnormal form of the vertebral bodies, Abnormal rib morphology, Rib segmentation abnormalities, V... |
ORPHA:2311 |
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness |
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Platyspondyly, Lumbar hyperlordosis, Cupped ribs, Beaking of vertebral bodies, Scoliosis, Irregul... |
OMIM:609616 |
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome |
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Abnormal form of the vertebral bodies, Sprengel anomaly, Hemivertebrae, Abnormal rib morphology, ... |
ORPHA:2180 |
Lethal Congenital Contracture Syndrome Type 1 |
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Short neck, Abnormal form of the vertebral bodies, Abnormal rib morphology |
ORPHA:1486 |
Mosaic Trisomy 14 |
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Narrow chest, Short neck, Abnormal rib morphology |
ORPHA:1703 |
Wildervanck Syndrome |
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Short neck, Fused cervical vertebrae |
ORPHA:3456 |
Imperforate Oropharynx-Costovertebral Anomalies Syndrome |
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Missing ribs, Abnormal form of the vertebral bodies, Hemivertebrae, Abnormal rib morphology |
ORPHA:2759 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3 |
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Platyspondyly, Thin ribs, Narrow vertebral interpedicular distance, Short neck, Scoliosis, Irregu... |
OMIM:618395 |
Mucopolysaccharidosis, Type X |
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Platyspondyly, Broad clavicles, Broad ribs, Spatulate ribs, Beaking of vertebral bodies, Hyperlor... |
OMIM:619698 |
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly |
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Narrow chest, Thoracic dysplasia, Bell-shaped thorax, Horizontal ribs, Lateral clavicle hook |
OMIM:615633 |
Femoral-Facial Syndrome |
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Vertebral segmentation defect, Rib fusion, Sprengel anomaly, Abnormal rib morphology, Abnormal sa... |
ORPHA:1988 |
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies |
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Sprengel anomaly, Abnormality of the vertebral column, Abnormal rib morphology |
OMIM:601076 |
Achondrogenesis Type 1B |
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Narrow chest, Short neck, Abnormal rib morphology, Short thorax |
ORPHA:93298 |
White Forelock With Malformations |
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Spina bifida occulta, Sprengel anomaly, Abnormal rib morphology |
ORPHA:2475 |
Mucopolysaccharidosis, Type Iva |
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Platyspondyly, Pectus carinatum, Hypoplasia of the odontoid process, Lumbar kyphosis, Short neck,... |
OMIM:253000 |
Lethal Kniest-Like Dysplasia |
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Platyspondyly, Narrow chest, Short ribs, Hypoplastic vertebral bodies, Short neck, Anterior rib c... |
ORPHA:2347 |
Osteogenesis Imperfecta, Type Iii |
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Thin ribs, Biconcave vertebral bodies, Scoliosis, Kyphosis, Wide anterior fontanel |
OMIM:259420 |
Spondyloepimetaphyseal Dysplasia, Irapa Type |
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Platyspondyly, Pectus carinatum, Abnormal rib morphology |
ORPHA:93351 |
Juberg-Hayward Syndrome |
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Abnormal vertebral morphology, Scoliosis, Abnormal rib morphology |
ORPHA:2319 |
Diastrophic Dysplasia |
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Hypoplastic cervical vertebrae, Abnormal form of the vertebral bodies, Abnormal clavicle morpholo... |
ORPHA:628 |
Mucopolysaccharidosis Type 4 |
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Platyspondyly, Pectus carinatum, Abnormal rib morphology, Spinal canal stenosis, Short neck, Hype... |
ORPHA:582 |
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
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Thin ribs, Block vertebrae, Supernumerary vertebrae, Short ribs, Missing ribs, Rib fusion, Short ... |
OMIM:271520 |
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
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Platyspondyly, 11 pairs of ribs, Thin ribs |
OMIM:300863 |
Holt-Oram Syndrome |
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Abnormal clavicle morphology, Down-sloping shoulders, Sprengel anomaly, Abnormal rib morphology, ... |
ORPHA:392 |
Osteogenesis Imperfecta, Type Ii |
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Platyspondyly, Thin ribs, Thoracic hypoplasia, Bell-shaped thorax, Multiple rib fractures |
OMIM:166210 |
Craniodiaphyseal Dysplasia |
|
Abnormal rib morphology |
ORPHA:1513 |
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type |
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Thoracolumbar kyphosis, Thin ribs, Narrow chest, Thoracic hypoplasia, Disc-like vertebral bodies,... |
OMIM:151210 |
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies |
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Pectus excavatum, Hypoplastic distal segments of scapulae, Abnormal rib morphology |
OMIM:602196 |
Cole-Carpenter Syndrome |
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Scoliosis, Kyphosis, Abnormal form of the vertebral bodies, Abnormal rib morphology |
ORPHA:2050 |
Osteogenesis Imperfecta, Type Xviii |
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Thin ribs, Vertebral compression fracture, Biconcave vertebral bodies |
OMIM:617952 |
Jeune Syndrome |
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Narrow chest, Abnormal clavicle morphology, Short thorax, Abnormal sternum morphology, Abnormal r... |
ORPHA:474 |
3M Syndrome |
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Thin ribs, Increased vertebral height, Horizontal ribs, Short neck, Hyperlordosis, Scapular wingi... |
ORPHA:2616 |
Cerebrofaciothoracic Dysplasia |
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Narrow chest, Vertebral segmentation defect, Rib fusion, Short neck, Sprengel anomaly, Hemiverteb... |
ORPHA:1394 |
Fibrochondrogenesis 1 |
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Platyspondyly, Thin ribs, Hypoplastic scapulae, Thoracic hypoplasia, Posterior rib cupping, Short... |
OMIM:228520 |
Mucopolysaccharidosis, Type Iiia |
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Ovoid thoracolumbar vertebrae, Scoliosis, Thickened ribs |
OMIM:252900 |
Dyggve-Melchior-Clausen Disease |
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Platyspondyly, Pectus carinatum, Hypoplasia of the odontoid process, Atlantoaxial instability, Ab... |
ORPHA:239 |
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome |
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Abnormally ossified vertebrae, Abnormal rib morphology |
ORPHA:3035 |
Achondrogenesis, Type Ia |
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Unossified vertebral bodies, Hypoplastic scapulae, Broad clavicles, Narrow chest, Hypoplastic sac... |
OMIM:200600 |
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome |
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Pectus carinatum, Short neck, Kyphosis, Abnormal rib morphology |
ORPHA:3082 |
Cooper-Jabs Syndrome |
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Missing ribs, Scoliosis, Abnormal rib morphology |
ORPHA:1488 |
Prune Belly Syndrome |
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Pectus excavatum, Scoliosis, Abnormal rib morphology, Vertebral segmentation defect |
ORPHA:2970 |
Phaver Syndrome |
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Butterfly vertebrae, Abnormal form of the vertebral bodies, Abnormal rib morphology |
ORPHA:2876 |
Melnick-Needles Syndrome |
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Anisospondyly, Narrow chest, Short thorax, Short clavicles, Abnormal rib morphology, Scoliosis |
ORPHA:2484 |
Brachytelephalangic Chondrodysplasia Punctata |
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Cervical kyphosis, Hypoplastic cervical vertebrae, Atlantoaxial instability, Cervical spinal cana... |
ORPHA:79345 |
Craniometadiaphyseal Dysplasia, Wormian Bone Type |
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Broad ribs, Wide anterior fontanel, Vertebral arch anomaly |
ORPHA:85184 |
Axial Mesodermal Dysplasia Spectrum |
|
Abnormal form of the vertebral bodies, Vertebral segmentation defect, Missing ribs, Short neck, A... |
ORPHA:1834 |
Acro-Renal-Mandibular Syndrome |
|
Thin ribs, Pectus carinatum, Hypoplastic scapulae, Abnormal clavicle morphology, Butterfly verteb... |
ORPHA:958 |
Osteogenesis Imperfecta, Type Xvi |
|
Platyspondyly, Narrow chest, Vertebral compression fracture, Multiple rib fractures |
OMIM:616229 |
Osteogenesis Imperfecta, Type Viii |
|
Platyspondyly, Thin ribs, Barrel-shaped chest, Vertebral compression fracture, Scoliosis, Kyphosi... |
OMIM:610915 |
10Q22.3Q23.3 Microduplication Syndrome |
|
Abnormal clavicle morphology, Abnormal rib morphology |
ORPHA:276422 |
Achondrogenesis, Type Ii |
|
Absent vertebral body mineralization, Horizontal ribs, Barrel-shaped chest, Short ribs |
OMIM:200610 |
Grant Syndrome |
|
Abnormality of the glenoid fossa, Narrow chest, Sprengel anomaly, Abnormal rib morphology |
ORPHA:2097 |
Gorlin Syndrome |
|
Abnormal vertebral morphology, Vertebral wedging, Abnormal rib morphology, Rib fusion, Hemiverteb... |
ORPHA:377 |
Osteogenesis Imperfecta, Type X |
|
Platyspondyly, Thin ribs, Narrow chest, Thoracic hypoplasia, Broad ribs, Thoracic scoliosis, Mult... |
OMIM:613848 |
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis |
|
Broad ribs, Flaring of rib cage, Fused cervical vertebrae |
OMIM:612852 |
Holzgreve Syndrome |
|
Abnormally ossified vertebrae, Abnormal rib morphology |
ORPHA:2167 |
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome |
|
Pectus carinatum, Hyperlordosis, Abnormal rib morphology |
ORPHA:3068 |
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
|
Abnormal rib morphology, Vertebral segmentation defect |
ORPHA:1120 |
Dysosteosclerosis |
|
Platyspondyly, Narrow chest, Broad ribs, Increased intervertebral space, Sclerotic scapulae, Hypo... |
OMIM:224300 |
Campomelia, Cumming Type |
|
Abnormal thorax morphology, Abnormally ossified vertebrae, Abnormal rib morphology |
ORPHA:1318 |
Thin Ribs-Tubular Bones-Dysmorphism Syndrome |
|
Abnormal rib morphology |
ORPHA:1506 |
Familial Osteodysplasia, Anderson Type |
|
Aplastic clavicle, Abnormal form of the vertebral bodies, Missing ribs, Abnormal rib morphology, ... |
ORPHA:2769 |
Alagille Syndrome |
|
Abnormal form of the vertebral bodies, Vertebral segmentation defect, Butterfly vertebral arch, A... |
ORPHA:52 |
Cat-Eye Syndrome |
|
Abnormal rib morphology |
ORPHA:195 |
Thoracic Outlet Syndrome |
|
Abnormal rib morphology |
ORPHA:97330 |
Bent Bone Dysplasia Syndrome 2 |
|
Platyspondyly, Thin ribs, Butterfly vertebrae, Short ribs, Short sternum, Short neck, Coronal cle... |
OMIM:620076 |
Trisomy 13 |
|
Narrow chest, Scoliosis, Kyphosis, Abnormal rib morphology |
ORPHA:3378 |
Radio-Renal Syndrome |
|
Short neck, Abnormal form of the vertebral bodies, Abnormal rib morphology |
ORPHA:3015 |
Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Platyspondyly, Narrow chest, Abnormal scapula morphology, Abnormal rib morphology |
ORPHA:93317 |
Tetraamelia-Multiple Malformations Syndrome |
|
Missing ribs, Abnormally ossified vertebrae, Abnormal rib morphology |
ORPHA:3301 |
Cenani-Lenz Syndrome |
|
Scoliosis, Abnormal form of the vertebral bodies, Abnormal rib morphology |
ORPHA:3258 |
Poland Syndrome |
|
Asymmetry of the thorax, Pectus carinatum, Abnormal sternum morphology, Aplasia/Hypoplasia of the... |
ORPHA:2911 |
Mosaic Trisomy 8 |
|
Narrow chest, Vertebral segmentation defect, Short neck, Abnormal rib morphology, Scoliosis |
ORPHA:96061 |
Microcephalic Primordial Dwarfism, Toriello Type |
|
Abnormal rib morphology |
ORPHA:2643 |
Pyknoachondrogenesis |
|
Unossified sacrum, Horizontal ribs, Short ribs, Poorly ossified vertebrae, Short thorax, Enlarged... |
ORPHA:3003 |
Renpenning Syndrome |
|
Pectus excavatum, Sprengel anomaly, Abnormal rib morphology |
ORPHA:3242 |
Cleidocranial Dysplasia |
|
Hypoplastic scapulae, Narrow chest, Down-sloping shoulders, Short clavicles, Abnormal rib morphol... |
ORPHA:1452 |
Cartilage-Hair Hypoplasia |
|
Pectus carinatum, Narrow chest, Biconvex vertebral bodies, Abnormal form of the vertebral bodies,... |
ORPHA:175 |
Vacterl/Vater Association |
|
Abnormal sacrum morphology, Abnormal intervertebral disk morphology, Abnormal rib morphology, Ver... |
ORPHA:887 |
Aspergillosis |
|
Abnormality of the vertebral column, Abnormal rib morphology |
ORPHA:1163 |
Hypophosphatasia |
|
Narrow chest, Abnormal rib morphology |
ORPHA:436 |
Kyphomelic Dysplasia |
|
Platyspondyly, Thoracic hypoplasia, Undulate ribs, Anterior rib cupping, Lateral clavicle hook |
OMIM:211350 |
Hurler Syndrome |
|
Abnormal vertebral morphology, Abnormal clavicle morphology, Spinal canal stenosis, Short neck, A... |
ORPHA:93473 |
Microphthalmia, Syndromic 3 |
|
Butterfly vertebrae, Missing ribs, Supernumerary ribs, Rib fusion, Hemivertebrae, Vertebral fusio... |
OMIM:206900 |
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome |
|
Abnormal rib morphology |
ORPHA:2772 |
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome |
|
Broad ribs, Abnormal sternum morphology, Abnormal rib morphology, Short ribs |
ORPHA:2519 |
Autosomal Dominant Popliteal Pterygium Syndrome |
|
Scoliosis, Abnormal rib morphology |
ORPHA:1300 |
Multiple Pterygium-Malignant Hyperthermia Syndrome |
|
Pectus excavatum, Scoliosis, Kyphosis, Abnormal rib morphology |
ORPHA:2215 |
Osteogenesis Imperfecta, Type Vii |
|
Narrow chest, Multiple rib fractures, Pectus excavatum, Vertebral compression fracture, Scoliosis... |
OMIM:610682 |
Craniosynostosis, Herrmann-Opitz Type |
|
Abnormal rib morphology |
ORPHA:2145 |
Monosomy 9Q22.3 |
|
Abnormality of the vertebral column, Short neck, Abnormal rib morphology, Pectus excavatum, Kyphosis |
ORPHA:77301 |
Schwartz-Jampel Syndrome |
|
Platyspondyly, Pectus carinatum, Shoulder flexion contracture, Abnormally straight spine, Short n... |
ORPHA:800 |
Fibrous Dysplasia Of Bone |
|
Abnormal clavicle morphology, Abnormal lumbar spine morphology, Abnormality of the cervical spine... |
ORPHA:249 |
Otopalatodigital Syndrome Type 2 |
|
Narrow chest, Scoliosis, Abnormal rib morphology, Abnormal vertebral segmentation and fusion |
ORPHA:90652 |
Camptodactyly Syndrome, Guadalajara Type 3 |
|
Spina bifida occulta, Short neck, Abnormal rib morphology |
ORPHA:488434 |
Osteogenesis Imperfecta |
|
Thin ribs, Pectus carinatum, Narrow chest, Cervical kyphosis, Abnormal form of the vertebral bodi... |
ORPHA:666 |
Oculocerebrocutaneous Syndrome |
|
Missing ribs, Abnormal rib morphology |
ORPHA:1647 |
Myhre Syndrome |
|
Platyspondyly, Abnormal rib morphology |
ORPHA:2588 |
Trisomy 1Q |
|
Abnormal rib morphology, Short thorax |
ORPHA:261344 |
Antley-Bixler Syndrome |
|
Narrow chest, Abnormal rib morphology |
ORPHA:83 |
Mucopolysaccharidosis Type 3 |
|
Abnormal clavicle morphology, Scoliosis, Abnormal form of the vertebral bodies, Abnormal rib morp... |
ORPHA:581 |
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Abnormal vertebral morphology, Narrow chest, Hypoplastic scapulae, Abnormal rib morphology, Scoli... |
ORPHA:95699 |
Vater/Vacterl Association |
|
Abnormal vertebral morphology, Scoliosis, Abnormal sternum morphology, Abnormal rib morphology |
OMIM:192350 |
Monosomy 9P |
|
Short neck, Scoliosis, Abnormality of the vertebral column, Abnormal rib morphology |
ORPHA:261112 |
Simpson-Golabi-Behmel Syndrome |
|
Vertebral segmentation defect, Short neck, Pectus excavatum, Abnormal rib morphology, Vertebral f... |
ORPHA:373 |
Ulbright-Hodes Syndrome |
|
Thin ribs, Short ribs, Short sternum, Short neck, Ovoid thoracolumbar vertebrae, Abnormal rib mor... |
ORPHA:3404 |
Smith-Lemli-Opitz Syndrome |
|
Abnormal form of the vertebral bodies, Short neck, Abnormal rib morphology, Scoliosis, Kyphosis |
ORPHA:818 |
Alagille Syndrome 1 |
|
Butterfly vertebral arch, Hemivertebrae, Abnormal rib morphology |
OMIM:118450 |
Oculocerebrorenal Syndrome Of Lowe |
|
Platyspondyly, Scoliosis, Kyphosis, Abnormal rib morphology |
ORPHA:534 |
Dextrocardia |
|
Abnormal rib morphology |
ORPHA:1666 |
Charge Syndrome |
|
Scoliosis, Hemivertebrae, Abnormal rib morphology |
ORPHA:138 |
Trisomy 18 |
|
Abnormal rib morphology |
ORPHA:3380 |
Hereditary Acrokeratotic Poikiloderma |
|
Abnormal rib morphology |
ORPHA:2907 |
Fraser Syndrome |
|
Abnormal rib morphology, Vertebral segmentation defect |
ORPHA:2052 |
Ear-Patella-Short Stature Syndrome |
|
Aplastic clavicle, Abnormal rib morphology |
ORPHA:2554 |
Pagod Syndrome |
|
Abnormal clavicle morphology, Abnormal rib morphology |
ORPHA:991 |
Townes-Brocks Syndrome |
|
Abnormal vertebral morphology, Abnormal rib morphology |
ORPHA:857 |
Charge Syndrome |
|
Down-sloping shoulders, Scoliosis, Hemivertebrae, Abnormal rib morphology |
OMIM:214800 |
Autosomal Recessive Malignant Osteopetrosis |
|
Narrow chest, Abnormal rib morphology |
ORPHA:667 |
Kindler Epidermolysis Bullosa |
|
Abnormal rib morphology |
ORPHA:2908 |