Cervical Rib |
|
Cervical ribs |
OMIM:117900 |
Spondylocostal Dysostosis 2, Autosomal Recessive |
|
Vertebral clefting, Vertebral segmentation defect, Short neck, Rib fusion, Hemivertebrae |
OMIM:608681 |
Sacral Agenesis With Vertebral Anomalies |
|
Abnormal vertebral morphology, Absence of the sacrum |
OMIM:615709 |
Spondylocostal Dysostosis 3, Autosomal Recessive |
|
Kyphosis, Vertebral segmentation defect, Hypoplasia of the odontoid process, Supernumerary verteb... |
OMIM:609813 |
Chondrocalcinosis Due To Apatite Crystal Deposition |
|
Chondrocalcinosis, Arthropathy, Osteoarthritis of the small joints of the hand, Costal cartilage ... |
OMIM:118610 |
Spondylocostal Dysostosis 5 |
|
Vertebral fusion, Low back pain, Supernumerary ribs, Missing ribs, Butterfly vertebrae, Posterior... |
OMIM:122600 |
Cervical Vertebral Dysplasia |
|
Anterior atlanto-occipital dislocation, Cervical vertebral facet hypoplasia, Cervical vertebral d... |
OMIM:118005 |
Vertebral Fusion, Posterior Lumbosacral, With Blepharoptosis |
|
Posterior fusion of lumbosacral vertebrae |
OMIM:192800 |
Spondylocostal Dysostosis 1, Autosomal Recessive |
|
Back pain, Vertebral fusion, Block vertebrae, Vertebral segmentation defect, Kyphoscoliosis, Shor... |
OMIM:277300 |
Scheuermann Disease |
|
Osteochondrosis, Morbus Scheuermann, Kyphosis |
OMIM:181440 |
Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome |
|
Sacral dimple, Posterior fusion of lumbosacral vertebrae, Joint stiffness, Tarsal synostosis, Abn... |
ORPHA:2064 |
Dwarfism With Tall Vertebrae |
|
Increased vertebral height |
OMIM:126950 |
Microcephaly With Cervical Spine Fusion Anomalies |
|
Vertebral fusion, Spinal instability |
OMIM:251250 |
Autosomal Dominant Spondylocostal Dysostosis |
|
Hyperlordosis, Short thorax, Vertebral segmentation defect, Missing ribs, Posterior rib fusion, A... |
ORPHA:1797 |
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome |
|
Abnormality of the elbow, Radioulnar synostosis, Delayed skeletal maturation, Scoliosis, Abnormal... |
ORPHA:3268 |
Diaphanospondylodysostosis |
|
Absent or minimally ossified vertebral bodies, Short thorax, Enlarged thorax, Missing ribs, Abnor... |
ORPHA:66637 |
Poland Syndrome |
|
Sprengel anomaly, Hemivertebrae, Rib fusion, Short ribs |
OMIM:173800 |
Klippel-Feil Syndrome 3, Autosomal Dominant |
|
Cervical C3/C4 vertebral fusion, Cervical C5/C6 vertebrae fusion, Thoracic scoliosis |
OMIM:613702 |
Sprengel Deformity |
|
Rib segmentation abnormalities, Spina bifida occulta, Cervical segmentation defect, Scoliosis, Sp... |
OMIM:184400 |
Brachyolmia, Maroteaux Type |
|
Short thorax, Pectus excavatum, Scoliosis, Platyspondyly, Abnormal form of the vertebral bodies |
ORPHA:93302 |
Spondylocostal Dysostosis 6, Autosomal Recessive |
|
Cervical kyphosis, Butterfly vertebrae, Spinal canal stenosis, Scoliosis, Hemivertebrae |
OMIM:616566 |
Neurogenic Thoracic Outlet Syndrome |
|
Abnormal rib morphology |
ORPHA:100073 |
Ankylosing Vertebral Hyperostosis With Tylosis |
|
Vertebral hyperostosis |
OMIM:106400 |
Becker Nevus Syndrome |
|
Kyphosis, Supernumerary ribs, Pectus excavatum, Spina bifida occulta, Rib fusion, Scoliosis, Pect... |
ORPHA:64755 |
Primary Basilar Invagination |
|
Short neck, Abnormality of the cervical spine, Abnormal vertebral morphology |
ORPHA:2285 |
Autosomal Dominant Brachyolmia |
|
Kyphoscoliosis, Short thorax, Increased vertebral height, Platyspondyly |
ORPHA:93304 |
Heart Defects-Limb Shortening Syndrome |
|
Kyphosis, Accelerated skeletal maturation, Narrow chest, Abnormal rib morphology, Abnormal form o... |
ORPHA:1354 |
Kyphomelic Dysplasia |
|
Short thorax, Anterior rib cupping, Missing ribs, Flat acetabular roof, Limitation of joint mobil... |
ORPHA:1801 |
Spondylometaphyseal Dysplasia, A4 Type |
|
Flared, irregular rib ends, Limitation of joint mobility, Platyspondyly |
ORPHA:168555 |
Endosteal Hyperostosis, Worth Type |
|
Generalized osteosclerosis, Clavicular sclerosis, Abnormal rib morphology, Sclerotic vertebral bo... |
ORPHA:2790 |
Multiple Synostoses Syndrome 2 |
|
Vertebral fusion, Humeroradial synostosis, Finger symphalangism, Carpal synostosis, Proximal symp... |
OMIM:610017 |
Spondylocostal Dysostosis 4, Autosomal Recessive |
|
Bell-shaped thorax, Vertebral fusion, Short thorax, Block vertebrae, Vertebral segmentation defec... |
OMIM:613686 |
Isolated Klippel-Feil Syndrome |
|
Abnormal sacrum morphology, Abnormal vertebral segmentation and fusion, Sprengel anomaly, Short n... |
ORPHA:2345 |
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies |
|
Abnormality of the cervical spine, Superior rib anomalies |
OMIM:307500 |
Osteomesopyknosis |
|
Kyphosis, Increased bone mineral density, Scoliosis, Sclerotic vertebral body, Abnormal form of t... |
ORPHA:2777 |
Osteoarthritis With Mild Chondrodysplasia |
|
Irregular vertebral endplates, Hip osteoarthritis, Heberden's node, Platyspondyly, Beaking of ver... |
OMIM:604864 |
Second Metatarsal-Metacarpal Syndrome |
|
Synostosis of carpals/tarsals, Platyspondyly |
OMIM:269630 |
Thoracomelic Dysplasia |
|
Bell-shaped thorax, Short ribs |
OMIM:273740 |
Osteogenesis Imperfecta, Type Ix |
|
Bowing of limbs due to multiple fractures, Recurrent fractures, Kyphosis, Pectus excavatum, Multi... |
OMIM:259440 |
Spondyloepiphyseal Dysplasia Tarda, Kohn Type |
|
Abnormality of the knee, Restricted large joint movement, Abnormal vertebral morphology, Platyspo... |
ORPHA:163665 |
Acromesomelic Dysplasia, Maroteaux Type |
|
Hyperlordosis, Kyphosis, Vertebral wedging, Ovoid vertebral bodies, Scoliosis, Joint hyperflexibi... |
ORPHA:40 |
Vertebral Hypoplasia With Lumbar Kyphosis |
|
Lumbar kyphosis, Vertebral hypoplasia |
OMIM:192900 |
Thoracic Dysostosis, Isolated |
|
Bell-shaped thorax, Pectus excavatum, Short ribs |
OMIM:187750 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3 |
|
Sacral dimple, Vertebral segmentation defect, Vertebral fusion, Short thorax |
OMIM:618845 |
Becker Nevus Syndrome |
|
Hemivertebrae, Pectus excavatum, Scoliosis, Cervical ribs |
OMIM:604919 |
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type |
|
Genu varum, Intervertebral space narrowing, Irregular vertebral endplates, Genu valgum, Decreased... |
OMIM:609223 |
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B |
|
Flexion contracture, Fused cervical vertebrae, Antecubital pterygium, Short neck, Scoliosis, Tars... |
OMIM:618469 |
Klippel-Feil Syndrome 2, Autosomal Recessive |
|
Fused cervical vertebrae, Short neck, Scoliosis, Sprengel anomaly, Cervical C2/C3 vertebral fusion |
OMIM:214300 |
Galactosialidosis |
|
Abnormality of the vertebral column, Abnormal vertebral morphology |
ORPHA:351 |
Autosomal Recessive Spondylocostal Dysostosis |
|
Camptodactyly of finger, Short thorax, Kyphosis, Vertebral segmentation defect, Rib segmentation ... |
ORPHA:2311 |
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome |
|
Thoracic hemivertebrae, Fused cervical vertebrae, Scoliosis, Abnormal sacrum morphology |
ORPHA:1436 |
Acrodysplasia Scoliosis |
|
Spina bifida occulta, Vertebral segmentation defect, Scoliosis |
ORPHA:2956 |
Mesomelic Dysplasia, Kantaputra Type |
|
Camptodactyly of finger, Vertebral segmentation defect, Synostosis of carpal bones, Tarsal synost... |
ORPHA:1836 |
Osteogenesis Imperfecta, Type Xv |
|
Bowing of limbs due to multiple fractures, Recurrent fractures, Joint hypermobility, Scoliosis, P... |
OMIM:615220 |
Femoral-Facial Syndrome |
|
Vertebral segmentation defect, Radioulnar synostosis, Abnormal sacrum morphology, Sprengel anomal... |
ORPHA:1988 |
Thoracolaryngopelvic Dysplasia |
|
Horizontal ribs, Bell-shaped thorax, Irregular vertebral endplates, Short ribs, Irregular chondro... |
OMIM:187760 |
Metatropic Dysplasia |
|
Camptodactyly of finger, Abnormal enchondral ossification, Kyphosis, Narrow chest, Long thorax, A... |
ORPHA:2635 |
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
|
Vertebral fusion, Supernumerary vertebrae, Block vertebrae, Short ribs, Missing ribs, Short neck,... |
OMIM:271520 |
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods |
|
Cervical vertebral bodies with decreased anteroposterior diameter, Fusion of midcervical facet jo... |
OMIM:606842 |
Spondylocamptodactyly Syndrome |
|
Scoliosis, Platyspondyly |
ORPHA:3180 |
Kuskokwim Syndrome |
|
Abnormal clavicle morphology, Scoliosis, Abnormal form of the vertebral bodies, Joint stiffness, ... |
ORPHA:1149 |
Mental Retardation, Skeletal Dysplasia, And Abducens Palsy |
|
Thoracic hemivertebrae, Fused cervical vertebrae, Scoliosis, Prominent metopic ridge |
OMIM:309620 |
Spondyloepiphyseal Dysplasia Tarda With Mental Retardation |
|
Anterior beaking of lumbar vertebrae, Platyspondyly |
OMIM:271620 |
Brachyolmia Type 2 |
|
Platyspondyly |
OMIM:613678 |
Spondylosis, Cervical |
|
Spina bifida occulta, Spondylolysis, Cervical spondylosis, Spondylolisthesis |
OMIM:184300 |
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome |
|
Abnormal rib morphology |
ORPHA:2435 |
Acropectorovertebral Dysplasia |
|
Capitate-hamate fusion, Abnormal thorax morphology, Synostosis of carpal bones, Spina bifida occu... |
OMIM:102510 |
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2 |
|
Abnormal rib morphology, Vertebral segmentation defect, Short neck |
ORPHA:2578 |
Spondylometaphyseal Dysplasia, Type A4 |
|
Enlargement of the costochondral junction, Osteoporotic tarsals, Flat acetabular roof, Ovoid vert... |
OMIM:609052 |
Wildervanck Syndrome |
|
Fused cervical vertebrae |
OMIM:314600 |
Spondyloepiphyseal Dysplasia, Maroteaux Type |
|
Platyspondyly |
OMIM:184095 |
Klippel-Feil Syndrome 1, Autosomal Dominant |
|
Abnormal vertebral segmentation and fusion, Sprengel anomaly, Short neck, Scoliosis, Abnormal rib... |
OMIM:118100 |
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A |
|
Knee flexion contracture, Vertebral fusion, Hip contracture, Craniosynostosis, Multiple pterygia,... |
OMIM:178110 |
Myotonia With Skeletal Abnormalities And Mental Retardation |
|
Bell-shaped thorax, Genu valgum, Vertebral wedging, Kyphoscoliosis, Pectus carinatum |
OMIM:255710 |
Microcephaly-Cervical Spine Fusion Anomalies Syndrome |
|
Hyperlordosis, Kyphosis, Fused cervical vertebrae, Pectus excavatum, Short neck, Abnormal clavicl... |
ORPHA:2522 |
Cerebrofaciothoracic Dysplasia |
|
Bifid ribs, Narrow chest, Vertebral segmentation defect, Short neck, Rib fusion, Scoliosis, Spren... |
ORPHA:1394 |
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome |
|
Short neck, Abnormal rib morphology, Abnormality of the humeroulnar joint, Hemivertebrae, Abnorma... |
ORPHA:2234 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3 |
|
Irregular vertebral endplates, Patellar dislocation, Multiple joint dislocation, Narrow vertebral... |
OMIM:618395 |
Osteogenesis Imperfecta, Type Vi |
|
Protrusio acetabuli, Biconcave vertebral bodies, Increased susceptibility to fractures, Joint lax... |
OMIM:613982 |
Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Hypoplastic sacrum, Genu valgum, Enlargement of the costochondral junction, Capitate-hamate fusio... |
OMIM:271650 |
Bruck Syndrome 1 |
|
Knee flexion contracture, Increased susceptibility to fractures, Protrusio acetabuli, Hip contrac... |
OMIM:259450 |
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly |
|
Horizontal ribs, Short ribs, Lateral clavicle hook, Acetabular spurs, Narrow chest, Trident aceta... |
OMIM:617405 |
Multiple Pterygium Syndrome, X-Linked |
|
Increased susceptibility to fractures, Vertebral fusion, Flexion contracture, Joint dislocation, ... |
OMIM:312150 |
Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant |
|
Irregular vertebral endplates, Knee pain, Avascular necrosis of the capital femoral epiphysis, Ar... |
OMIM:184100 |
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 2 |
|
Thoracic scoliosis, Short neck, Shield chest, Pectus excavatum |
OMIM:616994 |
Metatropic Dysplasia |
|
Flexion contracture, Long coccyx, Delayed skeletal maturation, Enlarged joints, Arthrogryposis mu... |
OMIM:156530 |
Spondylometaphyseal Dysplasia, Axial |
|
Anterior rib cupping, Thoracic hypoplasia, Scoliosis, Platyspondyly, Narrow chest |
OMIM:602271 |
Developmental And Speech Delay Due To Sox5 Deficiency |
|
Vertebral fusion, Butterfly vertebrae, Thoracic kyphoscoliosis, Scoliosis, Pectus carinatum, Lumb... |
ORPHA:313892 |
Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Genu valgum, Abnormal carpal morphology, Synostosis of carpal bones, Limitation of joint mobility... |
ORPHA:93351 |
Pontine Tegmental Cap Dysplasia |
|
Hemivertebrae, Ankle clonus, Rib fusion, Scoliosis |
OMIM:614688 |
Asymmetric Short Stature Syndrome |
|
Fused cervical vertebrae, Lumbar scoliosis |
OMIM:108450 |
Familial Congenital Mirror Movements |
|
Fused cervical vertebrae |
ORPHA:238722 |
Multiple Pterygium Syndrome, Lethal Type |
|
Increased susceptibility to fractures, Vertebral fusion, Flexion contracture, Joint dislocation, ... |
OMIM:253290 |
Lethal Congenital Contracture Syndrome Type 1 |
|
Abnormality of the elbow, Recurrent fractures, Limitation of joint mobility, Short neck, Abnormal... |
ORPHA:1486 |
Brachydactyly, Type B1 |
|
Thoracolumbar scoliosis, Hypoplastic sacrum, Vertebral fusion, Delayed cranial suture closure, Jo... |
OMIM:113000 |
Multiple Pterygium Syndrome, Escobar Variant |
|
Neck pterygia, Flexion contracture, Multiple joint contractures, Anterior clefting of vertebral b... |
OMIM:265000 |
Spinal Dysplasia, Anhalt Type |
|
Thoracolumbar scoliosis, Narrow anterio-posterior vertebral body diameter, Spinal dysplasia, Thor... |
OMIM:601344 |
Keratoconus Posticus Circumscriptus |
|
Abnormal vertebral segmentation and fusion, Short neck, Limited elbow extension and supination |
OMIM:244600 |
Isolated Hemihyperplasia |
|
Scoliosis, Asymmetry of the thorax |
ORPHA:2128 |
White Forelock With Malformations |
|
Spina bifida occulta, Delayed skeletal maturation, Joint hyperflexibility, Sprengel anomaly, Abno... |
ORPHA:2475 |
Kbg Syndrome |
|
Vertebral fusion, Thoracic kyphosis, Cervical ribs, Short neck, Delayed skeletal maturation, Scol... |
ORPHA:2332 |
Ring Chromosome 21 Syndrome |
|
Thoracic hemivertebrae, Abnormal thorax morphology, Scoliosis, Fused thoracic vertebrae |
ORPHA:1445 |
Verheij Syndrome |
|
Vertebral fusion, Hip dislocation, Short neck, Scoliosis, Hemivertebrae |
OMIM:615583 |
Laryngotracheoesophageal Cleft Type 4 |
|
Abnormal rib morphology, Abnormal form of the vertebral bodies |
ORPHA:93941 |
Fibrochondrogenesis 2 |
|
Bell-shaped thorax, Thoracic hypoplasia, Short ribs, Cupped ribs, Platyspondyly |
OMIM:614524 |
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness |
|
Irregular vertebral endplates, Flat acetabular roof, Delayed ossification of carpal bones, Cupped... |
OMIM:609616 |
Thanatophoric Dysplasia, Type Ii |
|
Short ribs, Wide-cupped costochondral junctions, Platyspondyly, Narrow chest, Small abnormally fo... |
OMIM:187601 |
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Narrow chest, Abnormal clavicle morphology, Short neck, Decreased skull ossification, Platyspondy... |
ORPHA:93267 |
Wildervanck Syndrome |
|
Fused cervical vertebrae, Short neck |
ORPHA:3456 |
Kniest Dysplasia |
|
Bell-shaped thorax, Short thorax, Delayed epiphyseal ossification, Arthropathy, Anterior vertebra... |
ORPHA:485 |
Congenital Disorder Of Glycosylation, Type Iig |
|
Vertebral segmentation defect, Butterfly vertebrae, Camptodactyly, Kyphoscoliosis, Short neck, Po... |
OMIM:611209 |
Mayer-Rokitansky-Küster-Hauser Syndrome |
|
Vertebral segmentation defect, Vertebral fusion, Abnormal form of the vertebral bodies, Abnormal ... |
ORPHA:3109 |
Autosomal Recessive Multiple Pterygium Syndrome |
|
Camptodactyly of finger, Abnormal sternum morphology, Vertebral segmentation defect, Multiple pte... |
ORPHA:2990 |
Ophthalmoplegia, External, With Rib And Vertebral Anomalies |
|
Missing ribs, Pectus excavatum, Scoliosis, Short ribs |
OMIM:618155 |
Juberg-Hayward Syndrome |
|
Abnormality of the elbow, Abnormality of the wrist, Abnormal vertebral morphology, Radioulnar syn... |
ORPHA:2319 |
Mucolipidosis Iii Gamma |
|
Hyperlordosis, Genu valgum, Kyphosis, Abnormal rib cage morphology, Short neck, Scoliosis, Joint ... |
OMIM:252605 |
Axial Spondylometaphyseal Dysplasia |
|
Flared, irregular rib ends, Thoracic hypoplasia, Short ribs, Posterior wedging of vertebral bodie... |
ORPHA:168549 |
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies |
|
Abnormal rib morphology, Joint hypermobility, Hypoplastic distal segments of scapulae, Pectus exc... |
OMIM:602196 |
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type |
|
Vertebral hypoplasia, Limb pain, Short neck, Ovoid vertebral bodies, Reduced bone mineral density... |
ORPHA:93315 |
Septopreoptic Holoprosencephaly |
|
Abnormal rib morphology, Abnormal vertebral morphology |
ORPHA:280195 |
Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Hypoplasia of the odontoid process, Elbow flexion contracture, Flat acetabular roof, Delayed ossi... |
OMIM:184252 |
Microphthalmia, Syndromic 3 |
|
Vertebral fusion, Vertebral hypoplasia, Supernumerary ribs, Missing ribs, Butterfly vertebrae, Ri... |
OMIM:206900 |
Proximal 16P11.2 Microdeletion Syndrome |
|
Rib fusion, Craniosynostosis, Scoliosis, Abnormal vertebral morphology |
ORPHA:261197 |
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome |
|
Sprengel anomaly, Scoliosis, Abnormal rib morphology, Hemivertebrae, Abnormal form of the vertebr... |
ORPHA:2180 |
Osteogenesis Imperfecta, Type Xxi |
|
Bell-shaped thorax, Recurrent fractures, Pectus excavatum, Barrel-shaped chest, Joint hypermobili... |
OMIM:619131 |
Mosaic Trisomy 14 |
|
Abnormal rib morphology, Narrow chest, Short neck, Camptodactyly of finger |
ORPHA:1703 |
Diastrophic Dysplasia |
|
Camptodactyly of finger, Joint dislocation, Kyphosis, Increased bone mineral density, Elbow dislo... |
ORPHA:628 |
Osteogenesis Imperfecta, Type Xviii |
|
Biconcave vertebral bodies, Recurrent fractures, Joint laxity, Joint hypermobility, Generalized o... |
OMIM:617952 |
Spondyloepiphyseal Dysplasia Tarda, X-Linked |
|
Hump-shaped mound of bone in central and posterior portions of vertebral endplate, Back pain, Kyp... |
OMIM:313400 |
Imperforate Oropharynx-Costovertebral Anomalies Syndrome |
|
Missing ribs, Joint hyperflexibility, Abnormal rib morphology, Hemivertebrae, Abnormal form of th... |
ORPHA:2759 |
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome |
|
Vertebral fusion, Patellar dislocation, Kyphosis, Hypoplastic vertebral bodies, Elbow dislocation... |
ORPHA:2916 |
Mucopolysaccharidosis Type 4 |
|
Hyperlordosis, Genu valgum, Short thorax, Joint dislocation, Kyphosis, Spinal canal stenosis, Sho... |
ORPHA:582 |
Spondyloepimetaphyseal Dysplasia, Strudwick Type |
|
Hyperlordosis, Genu valgum, Anterior rib cupping, Hypoplasia of the odontoid process, Scoliosis, ... |
OMIM:184250 |
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type |
|
Thoracic hypoplasia, Flat acetabular roof, Pectus excavatum, Posterior rib cupping, Ovoid vertebr... |
OMIM:608728 |
Osteogenesis Imperfecta, Type Ii |
|
Bell-shaped thorax, Thoracic hypoplasia, Recurrent fractures, Multiple prenatal fractures, Platys... |
OMIM:166210 |
Idiopathic Juvenile Osteoporosis |
|
Recurrent fractures, Kyphosis, Vertebral compression fracture, Osteoporosis, Bone pain |
ORPHA:85193 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5 |
|
Hyperlordosis, Vertebral fusion, Kyphosis, Achilles tendon contracture, Elbow contracture, Scoliosis |
OMIM:606612 |
Osteogenesis Imperfecta, Type Iii |
|
Protrusio acetabuli, Biconcave vertebral bodies, Bowing of limbs due to multiple fractures, Recur... |
OMIM:259420 |
Kbg Syndrome |
|
Vertebral arch anomaly, Vertebral fusion, Thoracic kyphosis, Cervical ribs, Short neck, Rib fusio... |
OMIM:148050 |
Mucopolysaccharidosis, Type X |
|
Hyperlordosis, Genu valgum, Broad clavicles, Spatulate ribs, Scoliosis, Irregular acetabular roof... |
OMIM:619698 |
Osteogenesis Imperfecta, Type Xvi |
|
Recurrent fractures, Multiple rib fractures, Joint hypermobility, Osteopenia, Decreased calvarial... |
OMIM:616229 |
Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Irregular sclerotic endplates, Flared, irregular rib ends, Genu varum, Pear-shaped vertebrae, Del... |
OMIM:602111 |
Achondrogenesis Type 1B |
|
Short thorax, Abnormal enchondral ossification, Narrow chest, Short neck, Abnormal rib morphology |
ORPHA:93298 |
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies |
|
Sprengel anomaly, Abnormality of the vertebral column, Abnormal rib morphology |
OMIM:601076 |
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis |
|
Osteomyelitis, Fused cervical vertebrae, Osteolysis, Osteopenia, Joint swelling, Flaring of rib c... |
OMIM:612852 |
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1 |
|
Sacral dimple, Bifid ribs, Vertebral fusion, Hyperextensibility of the finger joints, Narrow ches... |
OMIM:213980 |
Holt-Oram Syndrome |
|
Kyphosis, Radioulnar synostosis, Down-sloping shoulders, Pectus excavatum, Sprengel anomaly, Abno... |
ORPHA:392 |
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy |
|
Severe platyspondyly, Cupped ribs, Ovoid vertebral bodies, Scoliosis, Platyspondyly, Joint stiffness |
OMIM:608940 |
Craniodiaphyseal Dysplasia |
|
Abnormal rib morphology |
ORPHA:1513 |
Grant Syndrome |
|
Joint dislocation, Narrow chest, Abnormality of the glenoid fossa, Sprengel anomaly, Decreased sk... |
ORPHA:2097 |
Gorlin Syndrome |
|
Scoliosis, Vertebral fusion, Hemivertebrae, Vertebral wedging |
ORPHA:377 |
Aicardi Syndrome |
|
Bifid ribs, Block vertebrae, Supernumerary ribs, Missing ribs, Butterfly vertebrae, Rib fusion, S... |
ORPHA:50 |
Mucopolysaccharidosis, Type Iva |
|
Anterior beaking of lumbar vertebrae, Hyperlordosis, Genu valgum, Large elbow, Kyphosis, Prominen... |
OMIM:253000 |
Cole-Carpenter Syndrome |
|
Recurrent fractures, Kyphosis, Wormian bones, Scoliosis, Joint hyperflexibility, Abnormal rib mor... |
ORPHA:2050 |
Cog1-Cdg |
|
Vertebral segmentation defect, Flat acetabular roof, Butterfly vertebrae, Kyphoscoliosis, Short n... |
ORPHA:263508 |
Schneckenbecken Dysplasia |
|
Thoracic hypoplasia, Anterior rib cupping, Advanced ossification of carpal bones, Short ribs, Nar... |
OMIM:269250 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5 |
|
Hyperlordosis, Vertebral fusion, Kyphosis, Achilles tendon contracture, Scoliosis |
OMIM:607155 |
Alkaptonuria |
|
Vertebral fusion, Kyphosis, Arthropathy, Low back pain, Arthritis, Limited hip movement, Limited ... |
OMIM:203500 |
Infantile-Onset X-Linked Spinal Muscular Atrophy |
|
Knee flexion contracture, Hip contracture, Short ribs, Elbow flexion contracture, Kyphoscoliosis,... |
ORPHA:1145 |
Fibrochondrogenesis |
|
Camptodactyly of finger, Bell-shaped thorax, Broad ribs, Short ribs, Narrow chest, Short neck, Ab... |
ORPHA:2021 |
Otopalatodigital Syndrome Type 1 |
|
Increased bone mineral density, Synostosis of carpal bones, Limitation of joint mobility, Elbow d... |
ORPHA:90650 |
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia |
|
Shoulder dislocation, Genu varum, Anterior vertebral fusion, Radioulnar synostosis, Elbow disloca... |
OMIM:171480 |
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
|
11 pairs of ribs, Thin ribs, Decreased skull ossification, Platyspondyly |
OMIM:300863 |
Phaver Syndrome |
|
Camptodactyly of finger, Pterygium, Butterfly vertebrae, Radioulnar synostosis, Abnormal rib morp... |
ORPHA:2876 |
Short Stature And Facioauriculothoracic Malformations |
|
Cervical ribs, Pectus excavatum, Short neck, Abnormality of the odontoid process, Pectus carinatum |
OMIM:609654 |
Aarskog-Scott Syndrome |
|
Camptodactyly of finger, Abnormality of the cervical spine, Pectus excavatum, Abnormal vertebral ... |
ORPHA:915 |
Caudal Regression Syndrome |
|
Missing ribs, Hypoplastic vertebral bodies, Abnormal vertebral segmentation and fusion, Scoliosis... |
ORPHA:3027 |
Frontometaphyseal Dysplasia 1 |
|
Camptodactyly of finger, Coat hanger sign of ribs, Wrist flexion contracture, Partial fusion of t... |
OMIM:305620 |
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism |
|
Thoracolumbar scoliosis, Flexion contracture, Acetabular dysplasia, Short neck, Cervical C2/C3 ve... |
OMIM:616549 |
Cooper-Jabs Syndrome |
|
Camptodactyly of finger, Missing ribs, Scoliosis, Joint hyperflexibility, Abnormal rib morphology... |
ORPHA:1488 |
Aicardi Syndrome |
|
Bifid ribs, Block vertebrae, Supernumerary ribs, Missing ribs, Butterfly vertebrae, Rib fusion, S... |
OMIM:304050 |
Spondylocarpotarsal Synostosis Syndrome |
|
Hyperlordosis, Vertebral fusion, C2-C3 subluxation, Capitate-hamate fusion, Block vertebrae, Vert... |
OMIM:272460 |
Pseudoachondroplasia |
|
Genu varum, Genu valgum, Delayed epiphyseal ossification, Kyphosis, Ulnar deviation of the wrist,... |
OMIM:177170 |
Mucopolysaccharidosis, Type Iiia |
|
Ovoid thoracolumbar vertebrae, Thickened ribs, Dense calvaria, Scoliosis, Joint stiffness |
OMIM:252900 |
Achondrogenesis Type 1A |
|
Short thorax, Recurrent fractures, Abnormal enchondral ossification, Multiple rib fractures, Shor... |
ORPHA:93299 |
Lamb-Shaffer Syndrome |
|
Thoracic kyphosis, Fused cervical vertebrae, Scoliosis |
ORPHA:530983 |
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly |
|
Horizontal ribs, Bell-shaped thorax, Thoracic dysplasia, Lateral clavicle hook, Narrow chest |
OMIM:615633 |
Femoral-Facial Syndrome |
|
Hypoplastic acetabulae, Limited elbow movement, Humeroradial synostosis, Missing ribs, Radioulnar... |
OMIM:134780 |
Basal Cell Nevus Syndrome 1 |
|
Bifid ribs, Vertebral fusion, Abnormal sternum morphology, Short ribs, Vertebral wedging, Supernu... |
OMIM:109400 |
Robinow Syndrome, Autosomal Recessive 1 |
|
Thoracolumbar scoliosis, Hypoplastic sacrum, Vertebral fusion, Delayed cranial suture closure, Pr... |
OMIM:268310 |
Congenital Pseudoarthrosis Of The Clavicle |
|
Congenital pseudoarthrosis of the clavicle, Cervical ribs |
ORPHA:66630 |
Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Bell-shaped thorax, Genu varum, Delayed epiphyseal ossification, Vertebral hypoplasia, Short ribs... |
OMIM:602557 |
Melnick-Needles Syndrome |
|
Delayed cranial suture closure, Osteolytic defects of the phalanges of the hand, Short thorax, Na... |
ORPHA:2484 |
Mosaic Trisomy 20 |
|
Vertebral fusion, Kyphosis, Fused cervical vertebrae, Vertebral segmentation defect, Spinal canal... |
ORPHA:1724 |
3M Syndrome |
|
Horizontal ribs, Hyperlordosis, Enlarged thorax, Short thorax, Increased vertebral height, Abnorm... |
ORPHA:2616 |
Mucopolysaccharidosis, Type Iiib |
|
Ovoid thoracolumbar vertebrae, Thickened ribs, Dense calvaria, Joint stiffness |
OMIM:252920 |
Dyggve-Melchior-Clausen Disease |
|
Genu valgum, Short thorax, Horizontal inferior border of scapula, Broad ribs, Hypoplastic acetabu... |
ORPHA:239 |
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type |
|
Thoracic hypoplasia, Severe platyspondyly, Short ribs, Decreased cranial base ossification, Flat ... |
OMIM:151210 |
Larsen Syndrome |
|
Vertebral fusion, Spondylolysis, Accessory carpal bones, Cervical kyphosis, Hip dislocation, Join... |
OMIM:150250 |
Cole-Carpenter Syndrome 2 |
|
Recurrent fractures, Kyphosis, Coronal craniosynostosis, Pectus excavatum, Wide cranial sutures, ... |
OMIM:616294 |
Ehlers-Danlos Syndrome, Classic-Like, 2 |
|
Shoulder dislocation, Generalized joint laxity, Facet joint arthrosis, Hip dislocation, Joint hyp... |
OMIM:618000 |
Dyggve-Melchior-Clausen Disease |
|
Camptodactyly, Short neck, Flat glenoid fossa, Beaking of vertebral bodies, Lumbar hyperlordosis,... |
OMIM:223800 |
Mucopolysaccharidosis, Type Iiic |
|
Ovoid thoracolumbar vertebrae, Thickened ribs, Dense calvaria, Kyphoscoliosis, Beaking of vertebr... |
OMIM:252930 |
Stapes Ankylosis With Broad Thumbs And Toes |
|
Fused cervical vertebrae, Proximal/middle symphalangism of 5th finger |
OMIM:184460 |
Metaphyseal Chondrodysplasia, Schmid Type |
|
Osteosclerosis of ribs, Genu varum, Irregular vertebral endplates, Anterior rib cupping, Abnormal... |
ORPHA:174 |
Fibrodysplasia Ossificans Progressiva |
|
Ectopic ossification in ligament tissue, Small cervical vertebral bodies, Ectopic ossification in... |
OMIM:135100 |
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome |
|
Abnormal rib morphology, Abnormally ossified vertebrae |
ORPHA:3035 |
Jeune Syndrome |
|
Abnormal sternum morphology, Short thorax, Narrow chest, Abnormal clavicle morphology, Abnormal r... |
ORPHA:474 |
Achondrogenesis, Type Ia |
|
Hypoplastic sacrum, Bell-shaped thorax, Short thorax, Short ribs, Broad clavicles, Narrow chest, ... |
OMIM:200600 |
Osteogenesis Imperfecta, Type Viii |
|
Recurrent fractures, Kyphosis, Joint laxity, Barrel-shaped chest, Multiple prenatal fractures, Sc... |
OMIM:610915 |
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects |
|
Fused cervical vertebrae, Butterfly vertebrae, Pectus excavatum, Spina bifida occulta, Sprengel a... |
OMIM:619227 |
Mucopolysaccharidosis Type 6 |
|
Genu valgum, Kyphosis, Short neck, Ovoid vertebral bodies, Joint stiffness, Broad ribs |
ORPHA:583 |
Craniodiaphyseal Dysplasia, Autosomal Dominant |
|
Craniofacial osteosclerosis, Diaphyseal sclerosis, Thickened ribs, Cortical sclerosis |
OMIM:122860 |
Cervical Ribs, Sprengel Anomaly, Anal Atresia, And Urethral Obstruction |
|
Thoracolumbar scoliosis, Sprengel anomaly, Cervical ribs |
OMIM:601389 |
Autosomal Recessive Robinow Syndrome |
|
Sacral dimple, Camptodactyly of finger, Kyphosis, Vertebral segmentation defect, Synostosis of ca... |
ORPHA:1507 |
Holzgreve Syndrome |
|
Abnormal rib morphology, Abnormally ossified vertebrae, Joint stiffness |
ORPHA:2167 |
Wolf-Hirschhorn Syndrome |
|
Sacral dimple, Kyphosis, Abnormal thorax morphology, Abnormal vertebral morphology, Rib segmentat... |
ORPHA:280 |
10Q22.3Q23.3 Microduplication Syndrome |
|
Abnormal rib morphology, Abnormal clavicle morphology |
ORPHA:276422 |
Vertebral Hypersegmentation And Orofacial Anomalies |
|
Supernumerary ribs, Joint hypermobility, Pectus excavatum, Six lumbar vertebrae, Scapular winging |
OMIM:619122 |
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome |
|
Hyperlordosis, Limitation of joint mobility, Delayed skeletal maturation, Abnormal rib morphology... |
ORPHA:3068 |
Thoracic Outlet Syndrome |
|
Abnormal rib morphology |
ORPHA:97330 |
Prune Belly Syndrome |
|
Vertebral segmentation defect, Pectus excavatum, Congenital hip dislocation, Scoliosis, Abnormal ... |
ORPHA:2970 |
Lateral Meningocele Syndrome |
|
Biconcave vertebral bodies, Vertebral fusion, Kyphosis, Pectus excavatum, Joint hypermobility, Sh... |
OMIM:130720 |
Thin Ribs-Tubular Bones-Dysmorphism Syndrome |
|
Abnormal rib morphology |
ORPHA:1506 |
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome |
|
Sacral dimple, Rib fusion |
ORPHA:544488 |
Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Hyperlordosis, Generalized bone demineralization, Genu varum, Thoracic hypoplasia, Squared-off pl... |
ORPHA:93352 |
Osteogenesis Imperfecta, Type X |
|
Genu valgum, Thoracic hypoplasia, Generalized joint laxity, Multiple rib fractures, Joint laxity,... |
OMIM:613848 |
Cardiospondylocarpofacial Syndrome |
|
Fusion of middle ear ossicles, Fused cervical vertebrae, Carpal synostosis, Joint laxity, Joint h... |
OMIM:157800 |
Thrombocytopenia-Absent Radius Syndrome |
|
Genu varum, Patellar dislocation, Fused cervical vertebrae, Hip dislocation, Cervical ribs, Scoli... |
ORPHA:3320 |
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome |
|
Abnormal rib morphology, Short neck, Pectus carinatum, Kyphosis |
ORPHA:3082 |
Cortical Defects, Wormian Bones, And Dentinogenesis Imperfecta |
|
Increased susceptibility to fractures, Delayed closure of the anterior fontanelle, Asymmetry of t... |
OMIM:604922 |
Dysosteosclerosis |
|
Short sternum, Increased susceptibility to fractures, Delayed closure of the anterior fontanelle,... |
OMIM:224300 |
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome |
|
Abnormal rib morphology, Joint hyperflexibility, Decreased calvarial ossification, Recurrent frac... |
ORPHA:2772 |
Axial Mesodermal Dysplasia Spectrum |
|
Abnormality of the knee, Vertebral segmentation defect, Missing ribs, Short neck, Scoliosis, Abno... |
ORPHA:1834 |
Brachytelephalangic Chondrodysplasia Punctata |
|
Epiphyseal stippling of toe phalanges, Vertebral hypoplasia, Stippling of the epiphyses of the di... |
ORPHA:79345 |
Acrocapitofemoral Dysplasia |
|
Genu varum, Short ribs, Delayed ossification of carpal bones, Pectus excavatum, Cupped ribs, Ovoi... |
OMIM:607778 |
Mucolipidosis Iii Alpha/Beta |
|
Short ribs, Craniosynostosis, Irregular carpal bones, Carpal bone hypoplasia, Scoliosis, Shallow ... |
OMIM:252600 |
Koolen-De Vries Syndrome |
|
Vertebral fusion, Kyphosis, Vertebral segmentation defect, Hip dislocation, Pectus excavatum, Sco... |
ORPHA:96169 |
Three M Syndrome 2 |
|
Hyperlordosis, Short thorax, Short neck, Delayed skeletal maturation, Scapular winging, Thin ribs... |
OMIM:612921 |
Cenani-Lenz Syndrome |
|
Synostosis of carpal bones, Hip dislocation, Radioulnar synostosis, Synostosis of joints, Elbow d... |
ORPHA:3258 |
Fibrochondrogenesis 1 |
|
Thoracic hypoplasia, Thin clavicles, Anterior rib cupping, Short ribs, Joint contracture of the h... |
OMIM:228520 |
Lethal Kniest-Like Dysplasia |
|
Anterior rib cupping, Short ribs, Hypoplastic vertebral bodies, Short neck, Platyspondyly, Narrow... |
ORPHA:2347 |
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy |
|
Flexion contracture, Anterior rib cupping, Prominent sternum, Thoracic kyphosis, Hypoplasia of th... |
OMIM:300232 |
Mucopolysaccharidosis, Type Ivb |
|
Hyperlordosis, Genu valgum, Kyphosis, Prominent sternum, Ulnar deviation of the wrist, Hypoplasia... |
OMIM:253010 |
Achondrogenesis, Type Ii |
|
Horizontal ribs, Absent vertebral body mineralization, Barrel-shaped chest, Short ribs |
OMIM:200610 |
Acro-Renal-Mandibular Syndrome |
|
Kyphosis, Butterfly vertebrae, Hip dislocation, Short neck, Abnormal clavicle morphology, Scolios... |
ORPHA:958 |
Craniometadiaphyseal Dysplasia, Wormian Bone Type |
|
Vertebral arch anomaly, Increased bone mineral density, Osteopenia, Broad ribs, Wormian bones |
ORPHA:85184 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Flexion contracture, Thoracic hypoplasia, Fractured radius, Short ribs, Multiple rib fractures, M... |
OMIM:616897 |
Microcephalic Primordial Dwarfism, Toriello Type |
|
Abnormal rib morphology, Delayed skeletal maturation |
ORPHA:2643 |
Pallister-Hall Syndrome |
|
Hemivertebrae, Rib fusion, Hip dislocation, Radial head subluxation |
OMIM:146510 |
Gm1-Gangliosidosis, Type I |
|
Thickened ribs, Kyphosis, Hypoplastic vertebral bodies, Short neck, Scoliosis, Beaking of vertebr... |
OMIM:230500 |
Familial Osteodysplasia, Anderson Type |
|
Increased susceptibility to fractures, Aplastic clavicle, Recurrent fractures, Kyphosis, Missing ... |
ORPHA:2769 |
Robinow Syndrome |
|
Radioulnar dislocation, Missing ribs, Kyphoscoliosis, Rib fusion, Scoliosis, Hemivertebrae, Fused... |
ORPHA:97360 |
Spondylometaphyseal Dysplasia, Algerian Type |
|
Genu valgum, Anterior rib cupping, Carpal bone hypoplasia, Kyphoscoliosis, Platyspondyly, Lumbar ... |
OMIM:184253 |
Atelosteogenesis, Type I |
|
11 pairs of ribs, Bell-shaped thorax, Thoracic hypoplasia, Vertebral hypoplasia, Fused cervical v... |
OMIM:108720 |
Hypophosphatasia |
|
Narrow chest, Craniosynostosis, Abnormal rib morphology, Recurrent fractures |
ORPHA:436 |
Thanatophoric Dysplasia, Type I |
|
Thoracic hypoplasia, Severe platyspondyly, Short ribs, Wide-cupped costochondral junctions, Short... |
OMIM:187600 |
Bent Bone Dysplasia Syndrome 2 |
|
Short sternum, Hypoplastic acetabulae, Short ribs, Butterfly vertebrae, Short neck, Osteopenia, D... |
OMIM:620076 |
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
|
Abnormal rib morphology, Vertebral segmentation defect |
ORPHA:1120 |
Chromosome 8Q22.1 Duplication Syndrome |
|
Limitation of joint mobility, Enlarged interphalangeal joints, Interphalangeal joint contracture ... |
OMIM:151200 |
Zttk Syndrome |
|
Flexion contracture, Kyphosis, Cervical ribs, Joint hypermobility, Rib fusion, Scoliosis, Hemiver... |
OMIM:617140 |
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness |
|
Genu varum, Genu valgum, Irregular chondrocostal junctions, Short ribs, Joint laxity, Carpal bone... |
OMIM:250420 |
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Thin ribs, Platyspondyly |
ORPHA:163966 |
Otopalatodigital Syndrome Type 2 |
|
Camptodactyly of finger, Narrow chest, Increased bone mineral density, Synostosis of carpal bones... |
ORPHA:90652 |
Cantú Syndrome |
|
Cuboid-shaped vertebral bodies, Accelerated skeletal maturation, Short neck, Ovoid vertebral bodi... |
ORPHA:1517 |
Mosaic Trisomy 8 |
|
Camptodactyly of finger, Patellar aplasia, Narrow chest, Vertebral segmentation defect, Limitatio... |
ORPHA:96061 |
Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Narrow chest, Accelerated skeletal maturation, Delayed skeletal maturation, Platyspondyly, Abnorm... |
ORPHA:93317 |
Campomelia, Cumming Type |
|
Abnormal rib morphology, Abnormal thorax morphology, Abnormally ossified vertebrae |
ORPHA:1318 |
Faciodigitogenital Syndrome, Autosomal Recessive |
|
Vertebral fusion, Camptodactyly, Down-sloping shoulders, Abnormal rib cage morphology, Pectus exc... |
OMIM:227330 |
Cat-Eye Syndrome |
|
Abnormal rib morphology |
ORPHA:195 |
Craniometadiaphyseal Dysplasia |
|
Genu varum, Genu valgum, Broad ribs, Scoliosis, Osteopenia, Cubitus valgus, Sclerosis of skull ba... |
OMIM:269300 |
Otosclerosis 8 |
|
Otosclerosis |
OMIM:612096 |
Otosclerosis 3 |
|
Otosclerosis |
OMIM:608244 |
Wolf-Hirschhorn Syndrome |
|
Sacral dimple, Vertebral fusion, Kyphosis, Hip dislocation, Radioulnar synostosis, Rib segmentati... |
OMIM:194190 |
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly |
|
Thoracolumbar scoliosis, Hyperlordosis, Horizontal ribs, Genu valgum, Thoracic hypoplasia, Knee f... |
OMIM:618019 |
Baller-Gerold Syndrome |
|
Sagittal craniosynostosis, Patellar hypoplasia, Limited elbow movement, Patellar aplasia, Cranios... |
OMIM:218600 |
Intellectual Developmental Disorder, Autosomal Dominant 52 |
|
Lumbar scoliosis, Scapular winging, Pectus carinatum, Cervical C2/C3 vertebral fusion, Lumbar hyp... |
OMIM:617796 |
Pyknoachondrogenesis |
|
Horizontal ribs, Unossified sacrum, Short thorax, Enlarged thorax, Short ribs, Poorly ossified ve... |
ORPHA:3003 |
Cleidocranial Dysplasia |
|
Genu valgum, Recurrent fractures, Narrow chest, Down-sloping shoulders, Abnormal sacrum morpholog... |
ORPHA:1452 |
Radio-Renal Syndrome |
|
Abnormal rib morphology, Short neck, Abnormality of the elbow, Abnormal form of the vertebral bodies |
ORPHA:3015 |
Ossification Anomalies-Psychomotor Developmental Delay Syndrome |
|
Generalized bone demineralization, Abnormal bone ossification, Abnormal thorax morphology, Narrow... |
ORPHA:73230 |
Osteogenesis Imperfecta, Type Vii |
|
Delayed cranial suture closure, Protrusio acetabuli, Recurrent fractures, Multiple rib fractures,... |
OMIM:610682 |
Alagille Syndrome |
|
Butterfly vertebral arch, Vertebral segmentation defect, Spina bifida occulta, Delayed skeletal m... |
ORPHA:52 |
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome |
|
Cervical C2/C3 vertebral fusion |
ORPHA:370010 |
Koolen-De Vries Syndrome |
|
Sacral dimple, Vertebral fusion, Kyphosis, Hip dislocation, Pectus excavatum, Joint hypermobility... |
OMIM:610443 |
X-Linked Hypophosphatemia |
|
Genu varum, Genu valgum, Enlargement of the costochondral junction, Vertebral hyperostosis, Enthe... |
ORPHA:89936 |
Renpenning Syndrome |
|
Abnormal rib morphology, Sprengel anomaly, Joint stiffness, Pectus excavatum |
ORPHA:3242 |
Poland Syndrome |
|
Abnormal sternum morphology, Kyphosis, Short ribs, Finger symphalangism, Vertebral segmentation d... |
ORPHA:2911 |
Kyphomelic Dysplasia |
|
Anterior rib cupping, Thoracic hypoplasia, Flat acetabular roof, Pterygium, Limitation of joint m... |
OMIM:211350 |
Greenberg Dysplasia |
|
Absent or minimally ossified vertebral bodies, Thoracic hypoplasia, Epiphyseal stippling, Hypopla... |
OMIM:215140 |
Cartilage-Hair Hypoplasia |
|
Prominent sternum, Narrow vertebral interpedicular distance, Hypoplasia of the odontoid process, ... |
OMIM:250250 |
Tetraamelia-Multiple Malformations Syndrome |
|
Abnormal rib morphology, Abnormally ossified vertebrae, Missing ribs |
ORPHA:3301 |
Antley-Bixler Syndrome |
|
Delayed cranial suture closure, Camptodactyly of finger, Recurrent fractures, Narrow chest, Elbow... |
ORPHA:83 |
Sifrim-Hitz-Weiss Syndrome |
|
Short clavicles, Fused cervical vertebrae, Flat acetabular roof, Wormian bones |
OMIM:617159 |
Craniosynostosis, Herrmann-Opitz Type |
|
Abnormal rib morphology, Craniosynostosis |
ORPHA:2145 |
Frontometaphyseal Dysplasia |
|
Camptodactyly of finger, Wrist flexion contracture, Limited elbow movement, Joint contracture of ... |
ORPHA:1826 |
Autosomal Dominant Popliteal Pterygium Syndrome |
|
Abnormal rib morphology, Joint stiffness, Popliteal pterygium, Scoliosis |
ORPHA:1300 |
Autosomal Recessive Kenny-Caffey Syndrome |
|
Delayed cranial suture closure, Thin clavicles, Calvarial osteosclerosis, Delayed skeletal matura... |
ORPHA:93324 |
Otosclerosis 10 |
|
Otosclerosis |
OMIM:615589 |
1P36 Deletion Syndrome |
|
11 pairs of ribs, Bifid ribs, Delayed cranial suture closure, Camptodactyly of finger, Kyphosis, ... |
ORPHA:1606 |
Lymphangiectasia, Intestinal |
|
Prominent floating ribs |
OMIM:152800 |
Kenny-Caffey Syndrome, Type 1 |
|
Delayed closure of the anterior fontanelle, Thin clavicles, Calvarial osteosclerosis, Delayed ske... |
OMIM:244460 |
Occipital Horn Syndrome |
|
Genu valgum, Limited elbow extension, Broad ribs, Kyphosis, Capitate-hamate fusion, Broad clavicl... |
OMIM:304150 |
Trisomy 13 |
|
Abnormal rib morphology, Narrow chest, Scoliosis, Kyphosis |
ORPHA:3378 |
Cartilage-Hair Hypoplasia |
|
Sacral dimple, Hyperlordosis, Biconvex vertebral bodies, Short thorax, Abnormal bone ossification... |
ORPHA:175 |
Hurler Syndrome |
|
Camptodactyly of finger, Abnormality of the elbow, Spinal canal stenosis, Abnormal vertebral morp... |
ORPHA:93473 |
Kagami-Ogata Syndrome |
|
Bell-shaped thorax, Flexion contracture, Kyphoscoliosis, Long clavicles, Thin ribs |
OMIM:608149 |
Meier-Gorlin Syndrome 1 |
|
Flexion contracture, Osteochondritis dissecans, Camptodactyly, Elbow dislocation, Absent sternal ... |
OMIM:224690 |
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development |
|
Craniosynostosis, Decreased calvarial ossification, Arthrogryposis multiplex congenita, Thin ribs |
OMIM:618265 |
Opsismodysplasia |
|
Bell-shaped thorax, Anterior rib cupping, Severe platyspondyly, Hypoplasia of the odontoid proces... |
OMIM:258480 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Sagittal craniosynostosis, Metopic synostosis, Cervical ribs, Joint hypermobility, Kyphoscoliosis... |
ORPHA:500150 |
Acromesomelic Dysplasia 4 |
|
Genu varum, Genu valgum, Enlargement of the costochondral junction, Thoracic scoliosis, Prominent... |
OMIM:619636 |
Otosclerosis 1 |
|
Otosclerosis |
OMIM:166800 |
Shashi-Pena Syndrome |
|
Cervical C2/C3 vertebral fusion, Kyphosis, Accelerated skeletal maturation, Scoliosis, Osteoporosis |
OMIM:617190 |
Camptodactyly Syndrome, Guadalajara Type 3 |
|
Spina bifida occulta, Short neck, Delayed skeletal maturation, Osteopenia, Abnormal rib morphology |
ORPHA:488434 |
Shprintzen-Goldberg Craniosynostosis Syndrome |
|
Genu valgum, Joint contracture of the hand, Craniosynostosis, Supernumerary ribs, Camptodactyly, ... |
OMIM:182212 |
Myhre Syndrome |
|
Vertebral fusion, Camptodactyly, Limitation of joint mobility, Enlarged vertebral pedicles, Short... |
OMIM:139210 |
Osteogenesis Imperfecta |
|
Flexion contracture, Thoracic hypoplasia, Pectus excavatum, Dislocated radial head, Abnormal rib ... |
ORPHA:666 |
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Horizontal ribs, Thoracic hypoplasia, Short ribs, Lateral clavicle hook, Narrow chest |
OMIM:617895 |
Shwachman-Diamond Syndrome 1 |
|
Irregular ossification at anterior rib ends, Anterior rib cupping, Enlargement of the costochondr... |
OMIM:260400 |
Vacterl/Vater Association |
|
Abnormal rib morphology, Vertebral segmentation defect, Abnormal intervertebral disk morphology, ... |
ORPHA:887 |
X-Linked Myotubular Myopathy-Abnormal Genitalia Syndrome |
|
Joint hypermobility, Thin ribs |
ORPHA:456328 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures |
|
Hip subluxation, Flexion contracture, Advanced ossification of carpal bones, Hip dislocation, Dis... |
OMIM:271640 |
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome |
|
Abnormal bone ossification, Pectus excavatum, Joint hypermobility, Delayed skeletal maturation, O... |
ORPHA:2463 |
Mucopolysaccharidosis, Type Vi |
|
Genu valgum, Flexion contracture, Pectus carinatum, Broad ribs, Prominent sternum, Hypoplastic ac... |
OMIM:253200 |
Nestor-Guillermo Progeria Syndrome |
|
Delayed closure of the anterior fontanelle, Flexion contracture, Limited elbow movement, Osteolys... |
OMIM:614008 |
Arnold-Chiari Malformation Type I |
|
Stiff neck, Fused cervical vertebrae, Anteriorly placed odontoid process, Scoliosis, Cervical C2/... |
ORPHA:268882 |
Aspergillosis |
|
Abnormal rib morphology, Abnormality of the vertebral column, Osteomyelitis |
ORPHA:1163 |
Lethal Congenital Contracture Syndrome 5 |
|
Flexion contracture, Congenital contracture, Thin ribs |
OMIM:615368 |
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome |
|
Abnormal rib morphology, Abnormal sternum morphology, Broad ribs, Short ribs |
ORPHA:2519 |
Fanconi Anemia, Complementation Group I |
|
Fused cervical vertebrae, Short neck |
OMIM:609053 |
Lethal Congenital Contracture Syndrome 10 |
|
Stiff neck, Short neck, Narrow chest, Thoracic scoliosis, Broad ribs |
OMIM:617022 |
Multiple Pterygium-Malignant Hyperthermia Syndrome |
|
Camptodactyly of finger, Kyphosis, Pectus excavatum, Scoliosis, Abnormal rib morphology, Prominen... |
ORPHA:2215 |
Acrorenal-Mandibular Syndrome |
|
Abnormal sacral segmentation, Elbow flexion contracture, Missing ribs, Butterfly vertebrae, Hip d... |
OMIM:200980 |
Schwartz-Jampel Syndrome |
|
Wrist flexion contracture, Increased bone mineral density, Pectus excavatum, Elbow dislocation, S... |
ORPHA:800 |
Sclerosteosis 1 |
|
Sclerotic vertebral endplates, Broad clavicles, Broad ribs, Sclerotic scapulae |
OMIM:269500 |
Monosomy 9Q22.3 |
|
Kyphosis, Accelerated skeletal maturation, Pectus excavatum, Short neck, Joint hyperflexibility, ... |
ORPHA:77301 |
Thakker-Donnai Syndrome |
|
Hemivertebrae, Short neck, Cervical C2/C3 vertebral fusion |
ORPHA:1780 |
Simpson-Golabi-Behmel Syndrome |
|
Camptodactyly of finger, Vertebral fusion, Vertebral segmentation defect, Accelerated skeletal ma... |
ORPHA:373 |
Severe Congenital Nemaline Myopathy |
|
Flexion contracture, Abnormal thorax morphology, Multiple prenatal fractures, Arthrogryposis mult... |
ORPHA:171430 |
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures |
|
Flexion contracture, Thin ribs |
OMIM:614833 |
Chromosome 1P36 Deletion Syndrome, Distal |
|
11 pairs of ribs, Camptodactyly of finger, Bifid ribs, Delayed closure of the anterior fontanelle... |
OMIM:607872 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Cervical hemivertebrae, Generalized joint laxity, Thoracic hemivertebrae, Fused cervical vertebra... |
ORPHA:508498 |
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type |
|
Hip subluxation, Bell-shaped thorax, Knee flexion contracture, Thoracic hypoplasia, Anterior rib ... |
OMIM:271665 |
Otosclerosis 4 |
|
Otosclerosis |
OMIM:611571 |
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Horizontal ribs, Thoracic hypoplasia, Short ribs, Lateral clavicle hook, Acetabular spurs, Scoliosis |
OMIM:613091 |
Mucopolysaccharidosis, Type Iiid |
|
Ovoid thoracolumbar vertebrae, Thickened ribs, Elbow flexion contracture, Achilles tendon contrac... |
OMIM:252940 |
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Posterior rib fusion, Butterfly vertebrae |
OMIM:265380 |
Fibrous Dysplasia Of Bone |
|
Abnormality of the cervical spine, Osteomalacia, Abnormal lumbar spine morphology, Rickets, Osteo... |
ORPHA:249 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Delayed cranial suture closure, Knee flexion contracture, Proximal symphalangism of hands, Humero... |
OMIM:151050 |
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Horizontal ribs, Short ribs, Thoracic dysplasia, Lateral clavicle hook, Platyspondyly, Narrow che... |
OMIM:263520 |
Van Den Ende-Gupta Syndrome |
|
Sacral dimple, Knee flexion contracture, Joint contracture of the hand, Short ribs, Craniosynosto... |
OMIM:600920 |
Kagami-Ogata Syndrome |
|
Coat hanger sign of ribs, Bell-shaped thorax, Thoracic hypoplasia, Limitation of joint mobility, ... |
ORPHA:254519 |
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Cupped ribs, Ovoid vertebral bodies, Scoliosis, Platyspondyly |
ORPHA:85167 |
Duane-Radial Ray Syndrome |
|
Spina bifida occulta, Fused cervical vertebrae, Shoulder dislocation, Scoliosis |
OMIM:607323 |
Duane Retraction Syndrome |
|
Camptodactyly, Spina bifida occulta, Abnormal vertebral segmentation and fusion, Short neck, Abno... |
ORPHA:233 |
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion |
|
Coat hanger sign of ribs, Wrist flexion contracture, Flexion contracture, Thoracic hypoplasia, Pr... |
ORPHA:254528 |
Cerebrocostomandibular Syndrome |
|
11 pairs of ribs, Bell-shaped thorax, Rib gap, Thoracic hypoplasia, Anomalous rib insertion to ve... |
OMIM:117650 |
Ellis-Van Creveld Syndrome |
|
Horizontal ribs, Genu valgum, Capitate-hamate fusion, Short ribs, Acetabular spurs, Narrow chest,... |
OMIM:225500 |
Apert Syndrome |
|
Delayed cranial suture closure, Sagittal craniosynostosis, Limited elbow movement, Humeroradial s... |
OMIM:101200 |
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Flexion contracture, Humeroradial synostosis, Elbow flexion contracture, Camptodactyly, Metatarsa... |
ORPHA:95699 |
Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
11 pairs of ribs, Horizontal inferior border of scapula, Short ribs, Flat acetabular roof, Cupped... |
OMIM:250220 |
Weill-Marchesani Syndrome 1 |
|
Spinal canal stenosis, Scoliosis, Joint stiffness, Broad ribs, Lumbar hyperlordosis |
OMIM:277600 |
Premature Aging Syndrome, Penttinen Type |
|
Delayed cranial suture closure, Recurrent fractures, Cervical ribs, Flexion contracture of finger... |
OMIM:601812 |
Short Rib-Polydactyly Syndrome |
|
Horizontal ribs, Absent or minimally ossified vertebral bodies, Thoracic hypoplasia, Abnormal bon... |
ORPHA:1505 |
Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Horizontal ribs, Bell-shaped thorax, Delayed skeletal maturation |
OMIM:614857 |
Pallister-Hall Syndrome |
|
Distal arthrogryposis, Hip dislocation, Rib fusion, Hemivertebrae, Radial head subluxation |
ORPHA:672 |
Frontometaphyseal Dysplasia 2 |
|
Hip contracture, Fused cervical vertebrae, Camptodactyly, Elbow contracture, Pectus excavatum, Di... |
OMIM:617137 |
Oculocerebrocutaneous Syndrome |
|
Abnormal rib morphology, Congenital hip dislocation, Missing ribs |
ORPHA:1647 |
Xylt1-Cdg |
|
Joint dislocation, Accelerated skeletal maturation, Joint laxity, Short clavicles, Broad ribs |
ORPHA:370930 |
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1 |
|
Protrusio acetabuli, Joint dislocation, Progressive congenital scoliosis, Joint laxity, Congenita... |
OMIM:225400 |
Myotubular Myopathy With Abnormal Genital Development |
|
Joint hypermobility, Thin ribs |
OMIM:300219 |
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation |
|
Coat hanger sign of ribs, Thoracic hypoplasia |
ORPHA:254534 |
Acro-Renal-Ocular Syndrome |
|
Vertebral segmentation defect, Vertebral fusion |
ORPHA:959 |
Waardenburg Syndrome, Type 1 |
|
Sprengel anomaly, Supernumerary vertebrae, Supernumerary ribs |
OMIM:193500 |
Spondyloepimetaphyseal Dysplasia, X-Linked |
|
Genu varum, Anterior wedging of T11, Pectus carinatum, Limited elbow extension, Kyphosis, Hypopla... |
OMIM:300106 |
Trisomy 1Q |
|
Abnormal rib morphology, Camptodactyly of finger, Short thorax |
ORPHA:261344 |
Thrombocytopenia-Absent Radius Syndrome |
|
Genu varum, Patellar dislocation, Patellar aplasia, Fused cervical vertebrae, Hip dislocation, Ca... |
OMIM:274000 |
Stuve-Wiedemann Syndrome 1 |
|
Knee flexion contracture, Talipes valgus, Elbow flexion contracture, Camptodactyly, Contracture o... |
OMIM:601559 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Coronal craniosynostosis, Fused cervical vertebrae, Contracture of the distal interphalangeal joi... |
ORPHA:83617 |
Hyperparathyroidism, Transient Neonatal |
|
Recurrent fractures, Short ribs, Wide cranial sutures, Fractured rib, Osteopenia, Narrow chest, U... |
OMIM:618188 |
Osteopathia Striata With Cranial Sclerosis |
|
Delayed closure of the anterior fontanelle, Joint contracture of the hand, Flexion contracture of... |
OMIM:300373 |
Myhre Syndrome |
|
Abnormal rib morphology, Joint stiffness, Platyspondyly |
ORPHA:2588 |
Alpha-Mannosidosis, Infantile Form |
|
Thickened ribs, Avascular necrosis, Genu valgum, Talipes valgus, Craniosynostosis, Joint laxity, ... |
ORPHA:309282 |
Apert Syndrome |
|
Vertebral segmentation defect, Cervical C5/C6 vertebrae fusion |
ORPHA:87 |
Campomelic Dysplasia |
|
Thoracic hypoplasia, Hip dislocation, Dislocated radial head, Absent sternal ossification, Hypopl... |
OMIM:114290 |
Cerebrocostomandibular Syndrome |
|
Bell-shaped thorax, Posterior rib gap, Tracheomalacia, Kyphosis |
ORPHA:1393 |
Hallermann-Streiff Syndrome |
|
Hyperlordosis, Abnormal rib cage morphology, Pectus excavatum, Joint hypermobility, Decreased num... |
OMIM:234100 |
Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Horizontal ribs, Short ribs, Long thorax, Short neck, Lateral clavicle hook, Decreased calvarial ... |
OMIM:617925 |
Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
|
Broad ribs, Prominent sternum, Humeroradial synostosis, Broad clavicles, Elbow flexion contractur... |
OMIM:276820 |
Mucopolysaccharidosis Type 3 |
|
Increased susceptibility to fractures, Genu valgum, Flexion contracture, Avascular necrosis of th... |
ORPHA:581 |
Short-Rib Thoracic Dysplasia 12 |
|
Horizontal ribs, Short thorax, Short ribs, Thoracic dysplasia, Short neck, Narrow chest, Hypoplas... |
OMIM:269860 |
Gracile Bone Dysplasia |
|
Decreased skull ossification, Thin ribs |
OMIM:602361 |
Weill-Marchesani Syndrome 2 |
|
Elbow flexion contracture, Spinal canal stenosis, Delayed skeletal maturation, Scoliosis, Joint s... |
OMIM:608328 |
Craniotubular Dysplasia, Ikegawa Type |
|
Sclerosis of skull base, Increased intervertebral space, Broad ribs, Platyspondyly |
OMIM:619727 |
Chops Syndrome |
|
Tracheomalacia, Cervical C2/C3 vertebral fusion |
OMIM:616368 |
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Flexion contracture, Thoracic hypoplasia, Epiphyseal stippling, Camptodactyly, Pectus excavatum, ... |
ORPHA:96334 |
Chromosome 16P13.3 Duplication Syndrome |
|
Sacral dimple, Tracheobronchomalacia, Hip dislocation, Camptodactyly, Pectus excavatum, Short nec... |
OMIM:613458 |
Ulbright-Hodes Syndrome |
|
Ovoid thoracolumbar vertebrae, Short sternum, Humeroradial synostosis, Short ribs, Short neck, Ab... |
ORPHA:3404 |
Monosomy 9P |
|
Limitation of joint mobility, Short neck, Scoliosis, Abnormal rib morphology, Abnormality of the ... |
ORPHA:261112 |
Autosomal Dominant Centronuclear Myopathy |
|
Thin ribs |
ORPHA:169189 |
Dextrocardia |
|
Abnormal rib morphology, Congenital hip dislocation |
ORPHA:1666 |
Schinzel-Giedion Midface Retraction Syndrome |
|
Short sternum, Metopic suture patent to nasal root, Increased density of long bones, Sclerosis of... |
OMIM:269150 |
Eiken Syndrome |
|
Flat acetabular roof, Delayed ossification of carpal bones, Delayed tarsal ossification, Broad ri... |
OMIM:600002 |
Fetal Akinesia Deformation Sequence 1 |
|
Camptodactyly of finger, Wrist flexion contracture, Thoracic hypoplasia, Hip contracture, Congeni... |
OMIM:208150 |
Vater/Vacterl Association |
|
Abnormal sternum morphology, Radioulnar synostosis, Abnormal vertebral morphology, Scoliosis, Abn... |
OMIM:192350 |
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies |
|
Hyperlordosis, Genu valgum, Hip dislocation, Limited elbow extension, Broad ribs |
OMIM:301066 |
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Horizontal ribs, Short ribs, Thoracic dysplasia, Early ossification of capital femoral epiphyses,... |
OMIM:208500 |
Pseudo-Torch Syndrome 2 |
|
Thin ribs |
OMIM:617397 |
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Horizontal ribs, Bell-shaped thorax, Short ribs, Flat acetabular roof, Unicoronal synostosis, Nar... |
OMIM:616300 |
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Knee flexion contracture, Patellar hypoplasia, Hip dislocation, Pectus excavatum, Dislocated radi... |
OMIM:609945 |
Short-Rib Thoracic Dysplasia 15 With Polydactyly |
|
Horizontal ribs, Short ribs, Aplasia of the epiglottis, Narrow chest, Short clavicles |
OMIM:617088 |
Ear-Patella-Short Stature Syndrome |
|
Camptodactyly of finger, Aplastic clavicle, Patellar aplasia, Elbow dislocation, Delayed skeletal... |
ORPHA:2554 |
Alagille Syndrome 1 |
|
Butterfly vertebral arch, Hemivertebrae, Abnormal rib morphology |
OMIM:118450 |
Oculocerebrorenal Syndrome Of Lowe |
|
Genu valgum, Patellar dislocation, Kyphosis, Recurrent fractures, Osteomalacia, Arthritis, Hip di... |
ORPHA:534 |
Heterotaxy, Visceral, 1, X-Linked |
|
Congenital hip dislocation, Absence of the sacrum, Block vertebrae |
OMIM:306955 |
Mucopolysaccharidosis Type 2, Severe Form |
|
Camptodactyly of finger, Thickened ribs, Flexion contracture, Arthritis, Spinal canal stenosis, A... |
ORPHA:217085 |
Smith-Lemli-Opitz Syndrome |
|
Kyphosis, Hip dislocation, Short neck, Scoliosis, Abnormal rib morphology, Abnormal form of the v... |
ORPHA:818 |
Mucopolysaccharidosis Type 2, Attenuated Form |
|
Camptodactyly of finger, Thickened ribs, Flexion contracture, Arthritis, Spinal canal stenosis, A... |
ORPHA:217093 |
Autosomal Recessive Malignant Osteopetrosis |
|
Recurrent fractures, Narrow chest, Bone pain, Abnormal rib morphology, Osteopetrosis, Craniosynos... |
ORPHA:667 |
Restrictive Dermopathy |
|
Camptodactyly of finger, Thin clavicles, Multiple joint contractures, Aplasia/Hypoplasia of the c... |
ORPHA:1662 |
Craniofacial Microsomia |
|
Genu valgum, Vertebral hypoplasia, Block vertebrae, Cervical ribs, Scoliosis, Hemivertebrae |
OMIM:164210 |
Schinzel-Giedion Syndrome |
|
Abnormal thorax morphology, Camptodactyly, Radioulnar synostosis, Sclerosis of skull base, Kyphos... |
ORPHA:798 |
Cranioectodermal Dysplasia 2 |
|
Horizontal ribs, Short ribs, Joint laxity, Pectus excavatum, Short neck, Narrow chest, Metopic sy... |
OMIM:613610 |
Hereditary Acrokeratotic Poikiloderma |
|
Abnormal rib morphology, Camptodactyly of finger, Joint hyperflexibility |
ORPHA:2907 |
Trisomy 18 |
|
Abnormal rib morphology, Camptodactyly of finger, Delayed skeletal maturation |
ORPHA:3380 |
Elsahy-Waters Syndrome |
|
Cervical C2/C3 vertebral fusion, Pectus excavatum |
OMIM:211380 |
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Hip subluxation, Abnormal vertebral morphology, Tracheomalacia, Cervical C2/C3 vertebral fusion, ... |
ORPHA:444077 |
Fryns Syndrome |
|
Thoracic hypoplasia, Joint contracture of the hand, Camptodactyly, Short neck, Broad ribs, Thin ribs |
OMIM:229850 |
Coccidioidomycosis |
|
Osteomyelitis, Arthritis, Osteolysis, Abnormality of the vertebral column, Broad ribs |
ORPHA:228123 |
Mandibuloacral Dysplasia Progeroid Syndrome |
|
Delayed cranial suture closure, Osteolytic defects of the phalanges of the hand, Genu valgum, Fle... |
OMIM:619127 |
Generalized Arterial Calcification Of Infancy |
|
Abnormality of the knee, Stippled calcification of the shoulder, Osteomalacia, Fused cervical ver... |
ORPHA:51608 |
Charge Syndrome |
|
Abnormal rib morphology, Hemivertebrae, Scoliosis, Abnormality of bone mineral density |
ORPHA:138 |
Osteopetrosis, Autosomal Recessive 7 |
|
Multiple rib fractures, Osteopetrosis |
OMIM:612301 |
Kindler Epidermolysis Bullosa |
|
Abnormal rib morphology, Camptodactyly of finger, Flexion contracture |
ORPHA:2908 |
Pagod Syndrome |
|
Abnormal rib morphology, Abnormal clavicle morphology |
ORPHA:991 |
Osteopetrosis With Renal Tubular Acidosis |
|
Osteopetrosis, Prominent floating ribs, Recurrent fractures, Pectus excavatum |
ORPHA:2785 |
Townes-Brocks Syndrome |
|
Abnormal rib morphology, Abnormal vertebral morphology |
ORPHA:857 |
Wiedemann-Rautenstrauch Syndrome |
|
Genu varum, Delayed closure of the anterior fontanelle, Flexion contracture, Short neck, Scoliosi... |
OMIM:264090 |
Charge Syndrome |
|
Down-sloping shoulders, Scoliosis, Abnormal rib morphology, Hemivertebrae, Radial head subluxation |
OMIM:214800 |