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