Cervical Rib |
|
Cervical ribs |
OMIM:117900 |
Neurogenic Thoracic Outlet Syndrome |
|
Abnormal rib morphology |
ORPHA:100073 |
Spondylocostal Dysostosis 2, Autosomal Recessive |
|
Hemivertebrae, Vertebral segmentation defect, Vertebral clefting, Rib fusion, Short neck |
OMIM:608681 |
Spondylocostal Dysostosis 3, Autosomal Recessive |
|
Supernumerary vertebral ossification centers, Scoliosis, Vertebral segmentation defect, Kyphosis,... |
OMIM:609813 |
Sprengel Deformity |
|
Cervical segmentation defect, Spina bifida occulta, Scoliosis, Hemivertebrae, Sprengel anomaly, R... |
OMIM:184400 |
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome |
|
Pectus carinatum, Scoliosis, Abnormal rib morphology, Radioulnar synostosis, Abnormality of the e... |
ORPHA:3268 |
Spondylocostal Dysostosis 5 |
|
Butterfly vertebrae, Pectus carinatum, Scoliosis, Hemivertebrae, Missing ribs, Supernumerary ribs... |
OMIM:122600 |
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome |
|
Abnormal rib morphology |
ORPHA:2435 |
Klippel-Feil Syndrome 3, Autosomal Dominant |
|
Cervical C3/C4 vertebral fusion, Cervical C5/C6 vertebrae fusion, Thoracic scoliosis |
OMIM:613702 |
Thoracic Dysostosis, Isolated |
|
Short ribs, Bell-shaped thorax, Pectus excavatum |
OMIM:187750 |
Thoracomelic Dysplasia |
|
Short ribs, Bell-shaped thorax |
OMIM:273740 |
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies |
|
Abnormality of the cervical spine, Superior rib anomalies |
OMIM:307500 |
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly |
|
Lateral clavicle hook, Narrow chest, Short ribs, Acetabular spurs, Trident acetabulum, Horizontal... |
OMIM:617405 |
Heart Defects-Limb Shortening Syndrome |
|
Kyphosis, Abnormal rib morphology, Narrow chest, Abnormal form of the vertebral bodies |
ORPHA:1354 |
Becker Nevus Syndrome |
|
Scoliosis, Hemivertebrae, Pectus excavatum, Cervical ribs |
OMIM:604919 |
Kyphomelic Dysplasia |
|
Lateral clavicle hook, Narrow chest, Abnormal form of the vertebral bodies, Short thorax, Undulat... |
ORPHA:1801 |
Endosteal Hyperostosis, Worth Type |
|
Clavicular sclerosis, Sclerotic vertebral body, Abnormal rib morphology, Abnormal form of the ver... |
ORPHA:2790 |
Spondylocostal Dysostosis 1, Autosomal Recessive |
|
Kyphoscoliosis, Abnormal odontoid process morphology, Hemivertebrae, Vertebral segmentation defec... |
OMIM:277300 |
Autosomal Dominant Spondylocostal Dysostosis |
|
Spina bifida occulta, Short thorax, Scoliosis, Hyperlordosis, Vertebral segmentation defect, Miss... |
ORPHA:1797 |
Spondylometaphyseal Dysplasia, A4 Type |
|
Platyspondyly, Flared, irregular rib ends |
ORPHA:168555 |
Thoracolaryngopelvic Dysplasia |
|
Bell-shaped thorax, Scoliosis, Short ribs, Irregular chondrocostal junctions, Irregular vertebral... |
OMIM:187760 |
Osteogenesis Imperfecta, Type Ix |
|
Platyspondyly, Pectus carinatum, Scoliosis, Pectus excavatum, Kyphosis, Wormian bones, Multiple r... |
OMIM:259440 |
Isolated Klippel-Feil Syndrome |
|
Abnormal shoulder morphology, Cervical C2/C3 vertebral fusion, Abnormality of the vertebral colum... |
ORPHA:2345 |
Diaphanospondylodysostosis |
|
Absent or minimally ossified vertebral bodies, Short thorax, Enlarged thorax, Missing ribs, Short... |
ORPHA:66637 |
Mesomelic Dysplasia, Kantaputra Type |
|
Tarsal synostosis, Cubitus valgus, Vertebral segmentation defect, Synostosis of carpal bones, Abn... |
ORPHA:1836 |
Metatropic Dysplasia |
|
Abnormal intervertebral disk morphology, Narrow chest, Abnormal form of the vertebral bodies, Sco... |
ORPHA:2635 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3 |
|
Multiple joint dislocation, Carpal bone hypoplasia, Platyspondyly, Dislocated radial head, Thin r... |
OMIM:618395 |
Hypersulfaturia |
|
Costochondral pain |
OMIM:620372 |
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2 |
|
Short neck, Vertebral segmentation defect, Abnormal rib morphology |
ORPHA:2578 |
Klippel-Feil Syndrome 2, Autosomal Recessive |
|
Fused cervical vertebrae, Cervical C2/C3 vertebral fusion, Scoliosis, Sprengel anomaly, Short neck |
OMIM:214300 |
Congenital Pseudoarthrosis Of The Clavicle |
|
Congenital pseudoarthrosis of the clavicle, Osteoarthritis, Cervical ribs |
ORPHA:66630 |
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome |
|
Scoliosis, Abnormal sacrum morphology, Fused cervical vertebrae, Thoracic hemivertebrae |
ORPHA:1436 |
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome |
|
Abnormal form of the vertebral bodies, Hemivertebrae, Abnormal rib morphology, Abnormality of the... |
ORPHA:2234 |
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly |
|
Lateral clavicle hook, Bell-shaped thorax, Narrow chest, Thoracic dysplasia, Horizontal ribs |
OMIM:615633 |
Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Limited elbow extension, Hypoplastic sacrum, Genu valgum, Enlargement of the costochondral juncti... |
OMIM:271650 |
Craniodiaphyseal Dysplasia |
|
Abnormal rib morphology |
ORPHA:1513 |
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies |
|
Hypoplastic distal segments of scapulae, Pectus excavatum, Abnormal rib morphology |
OMIM:602196 |
Poland Syndrome |
|
Hemivertebrae, Sprengel anomaly, Short ribs, Rib fusion |
OMIM:173800 |
Microcephaly-Cervical Spine Fusion Anomalies Syndrome |
|
Abnormal clavicle morphology, Fused cervical vertebrae, Hyperlordosis, Pectus excavatum, Abnormal... |
ORPHA:2522 |
Metatropic Dysplasia |
|
Kyphoscoliosis, Caudal appendage, Genu valgum, Narrow chest, Relatively short spine, Scoliosis, S... |
OMIM:156530 |
Osteogenesis Imperfecta, Type Xv |
|
Scoliosis, Thin ribs, Platyspondyly |
OMIM:615220 |
Spondylocostal Dysostosis 4, Autosomal Recessive |
|
Abnormal odontoid process morphology, Bell-shaped thorax, Spina bifida occulta, Short thorax, Sco... |
OMIM:613686 |
Becker Nevus Syndrome |
|
Spina bifida occulta, Pectus carinatum, Scoliosis, Pectus excavatum, Kyphosis, Supernumerary ribs... |
ORPHA:64755 |
Fibrochondrogenesis 2 |
|
Bell-shaped thorax, Short ribs, Cupped ribs, Thoracic hypoplasia, Platyspondyly |
OMIM:614524 |
Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Abnormal carpal morphology, Genu valgum, Pectus carinatum, Synostosis of carpal bones, Abnormal r... |
ORPHA:93351 |
Thoracic Outlet Syndrome |
|
Abnormal rib morphology |
ORPHA:97330 |
Mental Retardation, Skeletal Dysplasia, And Abducens Palsy |
|
Scoliosis, Fused cervical vertebrae, Thoracic hemivertebrae, Prominent metopic ridge |
OMIM:309620 |
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness |
|
Beaking of vertebral bodies, Scoliosis, Delayed ossification of carpal bones, Flat acetabular roo... |
OMIM:609616 |
Thin Ribs-Tubular Bones-Dysmorphism Syndrome |
|
Abnormal rib morphology |
ORPHA:1506 |
Axial Spondylometaphyseal Dysplasia |
|
Aplasia/Hypoplasia of the vertebrae, Narrow chest, Delayed ossification of carpal bones, Short ri... |
ORPHA:168549 |
Klippel-Feil Syndrome 1, Autosomal Dominant |
|
Cervical C2/C3 vertebral fusion, Scoliosis, Abnormal rib morphology, Sprengel anomaly, Short neck... |
OMIM:118100 |
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B |
|
Tarsal synostosis, Fused cervical vertebrae, Scoliosis, Antecubital pterygium, Fused thoracic ver... |
OMIM:618469 |
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Abnormal clavicle morphology, Narrow chest, Abnormal rib morphology, Platyspondyly, Short neck |
ORPHA:93267 |
Grant Syndrome |
|
Narrow chest, Joint dislocation, Abnormal rib morphology, Sprengel anomaly, Wormian bones, Abnorm... |
ORPHA:2097 |
Mosaic Trisomy 14 |
|
Camptodactyly of finger, Narrow chest, Short neck, Abnormal rib morphology |
ORPHA:1703 |
Autosomal Recessive Spondylocostal Dysostosis |
|
Abnormal intervertebral disk morphology, Spina bifida occulta, Abnormal form of the vertebral bod... |
ORPHA:2311 |
Lethal Congenital Contracture Syndrome Type 1 |
|
Abnormality of the elbow, Short neck, Abnormal rib morphology, Abnormal form of the vertebral bodies |
ORPHA:1486 |
Mucopolysaccharidosis, Type X |
|
Beaking of vertebral bodies, Genu valgum, Spatulate ribs, Broad clavicles, Scoliosis, Hyperlordos... |
OMIM:619698 |
Jeune Syndrome |
|
Abnormal clavicle morphology, Narrow chest, Short thorax, Abnormal sternum morphology, Abnormal r... |
ORPHA:474 |
Laryngotracheoesophageal Cleft Type 4 |
|
Abnormal rib morphology, Abnormal form of the vertebral bodies |
ORPHA:93941 |
10Q22.3Q23.3 Microduplication Syndrome |
|
Abnormal clavicle morphology, Abnormal rib morphology |
ORPHA:276422 |
Mucopolysaccharidosis, Type Iva |
|
Genu valgum, Lumbar kyphosis, Anterior beaking of lumbar vertebrae, Pectus carinatum, Scoliosis, ... |
OMIM:253000 |
Juberg-Hayward Syndrome |
|
Abnormality of the wrist, Abnormal vertebral morphology, Scoliosis, Abnormal rib morphology, Radi... |
ORPHA:2319 |
Dyggve-Melchior-Clausen Disease |
|
Limited elbow extension, Beaking of vertebral bodies, Genu valgum, Abnormality of the vertebral c... |
ORPHA:239 |
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome |
|
Abnormal form of the vertebral bodies, Scoliosis, Hemivertebrae, Abnormal rib morphology, Sprenge... |
ORPHA:2180 |
Schneckenbecken Dysplasia |
|
Lateral clavicle hook, Narrow chest, Short ribs, Flat acetabular roof, Narrow vertebral interpedi... |
OMIM:269250 |
Septopreoptic Holoprosencephaly |
|
Abnormal vertebral morphology, Abnormal rib morphology |
ORPHA:280195 |
Diastrophic Dysplasia |
|
Abnormal clavicle morphology, Joint dislocation, Abnormal form of the vertebral bodies, Scoliosis... |
ORPHA:628 |
Achondrogenesis Type 1B |
|
Short thorax, Short neck, Narrow chest, Abnormal rib morphology |
ORPHA:93298 |
Mucopolysaccharidosis Type 4 |
|
Genu valgum, Joint dislocation, Short thorax, Pectus carinatum, Scoliosis, Hyperlordosis, Abnorma... |
ORPHA:582 |
White Forelock With Malformations |
|
Sprengel anomaly, Spina bifida occulta, Abnormal rib morphology |
ORPHA:2475 |
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies |
|
Sprengel anomaly, Abnormal rib morphology, Abnormality of the vertebral column |
OMIM:601076 |
Fibrochondrogenesis |
|
Bell-shaped thorax, Narrow chest, Abnormal form of the vertebral bodies, Short ribs, Abnormal rib... |
ORPHA:2021 |
Femoral-Facial Syndrome |
|
Scoliosis, Vertebral segmentation defect, Abnormal rib morphology, Rib fusion, Sprengel anomaly, ... |
ORPHA:1988 |
Holt-Oram Syndrome |
|
Abnormal clavicle morphology, Scoliosis, Pectus excavatum, Abnormal rib morphology, Kyphosis, Spr... |
ORPHA:392 |
Imperforate Oropharynx-Costovertebral Anomalies Syndrome |
|
Missing ribs, Hemivertebrae, Abnormal rib morphology, Abnormal form of the vertebral bodies |
ORPHA:2759 |
Osteogenesis Imperfecta, Type Ii |
|
Platyspondyly, Bell-shaped thorax, Thin ribs, Thoracic hypoplasia, Wormian bones, Multiple rib fr... |
OMIM:166210 |
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
|
Thin ribs, Short ribs, Scoliosis, Hemivertebrae, Missing ribs, Block vertebrae, Rib fusion, Short... |
OMIM:271520 |
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type |
|
Narrow chest, Thin ribs, Short ribs, Flat acetabular roof, Wafer-thin platyspondyly, Ovoid verteb... |
OMIM:151210 |
Cat-Eye Syndrome |
|
Abnormal rib morphology |
ORPHA:195 |
3M Syndrome |
|
Increased vertebral height, Short thorax, Thin ribs, Enlarged thorax, Scapular winging, Hyperlord... |
ORPHA:2616 |
Osteogenesis Imperfecta, Type Xviii |
|
Wormian bones, Thin ribs, Biconcave vertebral bodies, Vertebral compression fracture |
OMIM:617952 |
Microcephalic Primordial Dwarfism, Toriello Type |
|
Abnormal rib morphology |
ORPHA:2643 |
Phaver Syndrome |
|
Butterfly vertebrae, Abnormal form of the vertebral bodies, Pterygium, Abnormal rib morphology, C... |
ORPHA:2876 |
Cole-Carpenter Syndrome |
|
Abnormal form of the vertebral bodies, Scoliosis, Kyphosis, Abnormal rib morphology, Wormian bones |
ORPHA:2050 |
Hypophosphatasia |
|
Craniosynostosis, Abnormal rib morphology, Narrow chest |
ORPHA:436 |
Cole-Carpenter Syndrome 2 |
|
Lambdoidal craniosynostosis, Platyspondyly, Thin ribs, Pectus excavatum, Kyphosis, Coronal cranio... |
OMIM:616294 |
Melnick-Needles Syndrome |
|
Narrow chest, Short thorax, Short clavicles, Delayed cranial suture closure, Scoliosis, Abnormal ... |
ORPHA:2484 |
Osteogenesis Imperfecta, Type Iii |
|
Thin ribs, Scoliosis, Kyphosis, Biconcave vertebral bodies, Protrusio acetabuli, Wormian bones |
OMIM:259420 |
Cooper-Jabs Syndrome |
|
Camptodactyly of finger, Missing ribs, Scoliosis, Abnormal rib morphology |
ORPHA:1488 |
Achondrogenesis, Type Ia |
|
Hypoplastic sacrum, Bell-shaped thorax, Barrel-shaped chest, Narrow chest, Short thorax, Broad cl... |
OMIM:200600 |
Fibrochondrogenesis 1 |
|
Long clavicles, Thin clavicles, Widely patent coronal suture, Thin ribs, Short ribs, Posterior ve... |
OMIM:228520 |
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome |
|
Pectus carinatum, Kyphosis, Short neck, Abnormal rib morphology |
ORPHA:3082 |
Cerebrofaciothoracic Dysplasia |
|
Narrow chest, Scoliosis, Hemivertebrae, Vertebral segmentation defect, Rib fusion, Sprengel anoma... |
ORPHA:1394 |
Acro-Renal-Mandibular Syndrome |
|
Abnormal clavicle morphology, Butterfly vertebrae, Pectus carinatum, Thin ribs, Scoliosis, Hemive... |
ORPHA:958 |
Prune Belly Syndrome |
|
Scoliosis, Vertebral segmentation defect, Pectus excavatum, Abnormal rib morphology, Congenital h... |
ORPHA:2970 |
Axial Mesodermal Dysplasia Spectrum |
|
Abnormal form of the vertebral bodies, Scoliosis, Vertebral segmentation defect, Missing ribs, Ab... |
ORPHA:1834 |
Osteogenesis Imperfecta, Type Xvi |
|
Platyspondyly, Vertebral compression fracture, Narrow chest, Wormian bones, Multiple rib fractures |
OMIM:616229 |
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome |
|
Abnormally ossified vertebrae, Abnormal rib morphology |
ORPHA:3035 |
Mucolipidosis Iii Alpha/Beta |
|
Carpal bone hypoplasia, Spondylolisthesis, Scoliosis, Short ribs, Kyphosis, Irregular carpal bone... |
OMIM:252600 |
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome |
|
Abnormal rib morphology |
ORPHA:2772 |
Osteogenesis Imperfecta, Type X |
|
Genu valgum, Narrow chest, Vertebral compression fracture, Thin ribs, Scoliosis, Thoracic hypopla... |
OMIM:613848 |
Cenani-Lenz Syndrome |
|
Abnormal form of the vertebral bodies, Scoliosis, Synostosis of joints, Synostosis of carpal bone... |
ORPHA:3258 |
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness |
|
Carpal bone hypoplasia, Genu valgum, Scoliosis, Short ribs, Cupped ribs, Irregular chondrocostal ... |
OMIM:250420 |
Craniosynostosis, Herrmann-Opitz Type |
|
Craniosynostosis, Abnormal rib morphology |
ORPHA:2145 |
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome |
|
Abnormal sternum morphology, Short ribs, Abnormal rib morphology, Broad ribs |
ORPHA:2519 |
Gorlin Syndrome |
|
Bifid ribs, Abnormal vertebral morphology, Vertebral wedging, Scoliosis, Hemivertebrae, Abnormal ... |
ORPHA:377 |
Renpenning Syndrome |
|
Sprengel anomaly, Pectus excavatum, Abnormal rib morphology |
ORPHA:3242 |
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome |
|
Pectus carinatum, Hyperlordosis, Abnormal rib morphology |
ORPHA:3068 |
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis |
|
Joint swelling, Flaring of rib cage, Fused cervical vertebrae, Broad ribs |
OMIM:612852 |
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly |
|
Limited elbow extension, Genu valgum, Thoracic platyspondyly, Platyspondyly, Joint dislocation, H... |
OMIM:618019 |
Holzgreve Syndrome |
|
Abnormally ossified vertebrae, Abnormal rib morphology |
ORPHA:2167 |
Familial Osteodysplasia, Anderson Type |
|
Abnormal form of the vertebral bodies, Scoliosis, Missing ribs, Abnormal rib morphology, Kyphosis... |
ORPHA:2769 |
Antley-Bixler Syndrome |
|
Narrow chest, Delayed cranial suture closure, Abnormal rib morphology, Camptodactyly of finger, E... |
ORPHA:83 |
Campomelia, Cumming Type |
|
Abnormally ossified vertebrae, Abnormal rib morphology, Abnormal thorax morphology |
ORPHA:1318 |
Bent Bone Dysplasia Syndrome 2 |
|
Butterfly vertebrae, Hypoplastic acetabulae, Thin ribs, Short ribs, Short sternum, Coronal cleft ... |
OMIM:620076 |
Osteogenesis Imperfecta, Type Viii |
|
Platyspondyly, Barrel-shaped chest, Vertebral compression fracture, Scoliosis, Thin ribs, Kyphosi... |
OMIM:610915 |
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
|
Vertebral segmentation defect, Abnormal rib morphology |
ORPHA:1120 |
Cleidocranial Dysplasia |
|
Genu valgum, Narrow chest, Spina bifida occulta, Abnormal sacrum morphology, Short clavicles, Sco... |
ORPHA:1452 |
Trisomy 13 |
|
Scoliosis, Narrow chest, Kyphosis, Abnormal rib morphology |
ORPHA:3378 |
Radio-Renal Syndrome |
|
Abnormality of the elbow, Short neck, Abnormal rib morphology, Abnormal form of the vertebral bodies |
ORPHA:3015 |
Poland Syndrome |
|
Finger symphalangism, Asymmetry of the thorax, Spina bifida occulta, Abnormal sternum morphology,... |
ORPHA:2911 |
Mosaic Trisomy 8 |
|
Narrow chest, Scoliosis, Vertebral segmentation defect, Abnormal rib morphology, Camptodactyly of... |
ORPHA:96061 |
Alagille Syndrome |
|
Spina bifida occulta, Butterfly vertebral arch, Abnormal form of the vertebral bodies, Vertebral ... |
ORPHA:52 |
Kyphomelic Dysplasia |
|
Lateral clavicle hook, Pterygium, Flat acetabular roof, Undulate ribs, Anterior rib cupping, Thor... |
OMIM:211350 |
Pyknoachondrogenesis |
|
Short thorax, Enlarged thorax, Short ribs, Unossified sacrum, Poorly ossified vertebrae, Horizont... |
ORPHA:3003 |
Tetraamelia-Multiple Malformations Syndrome |
|
Missing ribs, Abnormally ossified vertebrae, Abnormal rib morphology |
ORPHA:3301 |
Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Platyspondyly, Narrow chest, Abnormal scapula morphology, Abnormal rib morphology |
ORPHA:93317 |
Cartilage-Hair Hypoplasia |
|
Limited elbow extension, Biconvex vertebral bodies, Sacral dimple, Narrow chest, Abnormal form of... |
ORPHA:175 |
Hurler Syndrome |
|
Abnormal clavicle morphology, Abnormal vertebral morphology, Scoliosis, Abnormal rib morphology, ... |
ORPHA:93473 |
Aspergillosis |
|
Abnormal rib morphology, Abnormality of the vertebral column |
ORPHA:1163 |
Oculocerebrocutaneous Syndrome |
|
Missing ribs, Abnormal rib morphology, Congenital hip dislocation |
ORPHA:1647 |
Multiple Pterygium-Malignant Hyperthermia Syndrome |
|
Scoliosis, Pectus excavatum, Kyphosis, Abnormal rib morphology, Prominent metopic ridge, Camptoda... |
ORPHA:2215 |
Autosomal Dominant Popliteal Pterygium Syndrome |
|
Popliteal pterygium, Scoliosis, Abnormal rib morphology |
ORPHA:1300 |
Vacterl/Vater Association |
|
Abnormal sacrum morphology, Abnormal intervertebral disk morphology, Abnormal rib morphology, Ver... |
ORPHA:887 |
Schwartz-Jampel Syndrome |
|
Spinal rigidity, Genu valgum, Platyspondyly, Shoulder flexion contracture, Pectus carinatum, Scol... |
ORPHA:800 |
Osteogenesis Imperfecta, Type Vii |
|
Narrow chest, Vertebral compression fracture, Delayed cranial suture closure, Scoliosis, Pectus e... |
OMIM:610682 |
Otopalatodigital Syndrome Type 2 |
|
Tarsal synostosis, Narrow chest, Scoliosis, Synostosis of carpal bones, Abnormal rib morphology, ... |
ORPHA:90652 |
Trisomy 1Q |
|
Short thorax, Camptodactyly of finger, Abnormal rib morphology |
ORPHA:261344 |
Monosomy 9Q22.3 |
|
Abnormality of the vertebral column, Pectus excavatum, Kyphosis, Abnormal rib morphology, Short n... |
ORPHA:77301 |
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Limited elbow extension, Tarsal synostosis, Cubitus valgus, Abnormality of the wrist, Narrow ches... |
ORPHA:95699 |
Osteogenesis Imperfecta |
|
Genu valgum, Narrow chest, Enlarged vertebral pedicles, Dislocated radial head, Pectus carinatum,... |
ORPHA:666 |
Dextrocardia |
|
Abnormal rib morphology, Congenital hip dislocation |
ORPHA:1666 |
Camptodactyly Syndrome, Guadalajara Type 3 |
|
Short neck, Spina bifida occulta, Abnormal rib morphology |
ORPHA:488434 |
Fibrous Dysplasia Of Bone |
|
Abnormal clavicle morphology, Abnormal lumbar spine morphology, Scoliosis, Abnormal rib morpholog... |
ORPHA:249 |
Mucopolysaccharidosis Type 3 |
|
Abnormal clavicle morphology, Genu valgum, Abnormal form of the vertebral bodies, Scoliosis, Abno... |
ORPHA:581 |
Myhre Syndrome |
|
Platyspondyly, Abnormal rib morphology |
ORPHA:2588 |
Simpson-Golabi-Behmel Syndrome |
|
Scoliosis, Vertebral segmentation defect, Pectus excavatum, Abnormal rib morphology, Congenital h... |
ORPHA:373 |
Ear-Patella-Short Stature Syndrome |
|
Abnormal rib morphology, Camptodactyly of finger, Patellar aplasia, Craniosynostosis, Elbow dislo... |
ORPHA:2554 |
Monosomy 9P |
|
Short neck, Scoliosis, Abnormal rib morphology, Abnormality of the vertebral column |
ORPHA:261112 |
Ulbright-Hodes Syndrome |
|
Thin ribs, Short ribs, Abnormal rib morphology, Humeroradial synostosis, Short sternum, Ovoid tho... |
ORPHA:3404 |
Vater/Vacterl Association |
|
Abnormal vertebral morphology, Abnormal sternum morphology, Scoliosis, Abnormal rib morphology, R... |
OMIM:192350 |
Smith-Lemli-Opitz Syndrome |
|
Abnormal form of the vertebral bodies, Scoliosis, Abnormal rib morphology, Kyphosis, Short neck, ... |
ORPHA:818 |
Trisomy 18 |
|
Camptodactyly of finger, Abnormal rib morphology |
ORPHA:3380 |
Oculocerebrorenal Syndrome Of Lowe |
|
Genu valgum, Platyspondyly, Arthritis, Scoliosis, Abnormal rib morphology, Kyphosis, Joint swelli... |
ORPHA:534 |
Hereditary Acrokeratotic Poikiloderma |
|
Camptodactyly of finger, Abnormal rib morphology |
ORPHA:2907 |
Pagod Syndrome |
|
Abnormal clavicle morphology, Abnormal rib morphology |
ORPHA:991 |
Alagille Syndrome 1 |
|
Hemivertebrae, Butterfly vertebral arch, Abnormal rib morphology |
OMIM:118450 |
Autosomal Recessive Malignant Osteopetrosis |
|
Craniosynostosis, Narrow chest, Abnormal rib morphology |
ORPHA:667 |
Kindler Epidermolysis Bullosa |
|
Camptodactyly of finger, Abnormal rib morphology |
ORPHA:2908 |
Charge Syndrome |
|
Scoliosis, Hemivertebrae, Abnormal rib morphology |
ORPHA:138 |
Fraser Syndrome |
|
Vertebral segmentation defect, Abnormal rib morphology |
ORPHA:2052 |
Charge Syndrome |
|
Scoliosis, Hemivertebrae, Abnormal rib morphology, Radial head subluxation, Down-sloping shoulders |
OMIM:214800 |
Townes-Brocks Syndrome |
|
Abnormal vertebral morphology, Abnormal rib morphology |
ORPHA:857 |