Cervical Vertebral Bridge |
|
Abnormality of the vertebral column |
OMIM:118000 |
Cervical Vertebral Dysplasia |
|
Cervical vertebral dysplasia, Cervical vertebral facet hypoplasia, Anterior atlanto-occipital dis... |
OMIM:118005 |
Spondylocostal Dysostosis 2, Autosomal Recessive |
|
Short neck, Vertebral clefting, Rib fusion, Hemivertebrae, Vertebral segmentation defect |
OMIM:608681 |
Spondylocostal Dysostosis 3, Autosomal Recessive |
|
Contracture of the proximal interphalangeal joint of the 2nd finger, Kyphosis, Hypoplasia of the ... |
OMIM:609813 |
Scoliosis, Isolated, Susceptibility To, 1 |
|
Scoliosis |
OMIM:181800 |
Scheuermann Disease |
|
Kyphosis, Morbus Scheuermann |
OMIM:181440 |
Spondylocostal Dysostosis 5 |
|
Vertebral fusion, Low back pain, Missing ribs, Short neck, Hemivertebrae, Pectus carinatum, Poste... |
OMIM:122600 |
Spondylocostal Dysostosis 1, Autosomal Recessive |
|
Back pain, Vertebral fusion, Block vertebrae, Abnormal odontoid process morphology, Kyphoscoliosi... |
OMIM:277300 |
Intellectual Developmental Disorder, X-Linked 82 |
|
Kyphosis, Scoliosis |
OMIM:300518 |
Autosomal Dominant Brachyolmia |
|
Increased vertebral height, Platyspondyly, Kyphoscoliosis |
ORPHA:93304 |
Spondylocostal Dysostosis 6, Autosomal Recessive |
|
Cervical kyphosis, Hemivertebrae, Spinal canal stenosis, Scoliosis, Butterfly vertebrae |
OMIM:616566 |
Autosomal Dominant Spondylocostal Dysostosis |
|
Missing ribs, Short neck, Hyperlordosis, Abnormal sacrum morphology, Short thorax, Abnormal rib m... |
ORPHA:1797 |
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis |
|
Thoracolumbar kyphosis, Kyphoscoliosis |
OMIM:236660 |
Diaphanospondylodysostosis |
|
Short neck, Missing ribs, Short thorax, Enlarged thorax, Absent or minimally ossified vertebral b... |
ORPHA:66637 |
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome |
|
Delayed skeletal maturation, Abnormality of the elbow, Abnormal rib morphology, Pectus carinatum,... |
ORPHA:3268 |
Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome |
|
Sacral dimple, Tarsal synostosis, Joint stiffness, Abnormal form of the vertebral bodies, Posteri... |
ORPHA:2064 |
Cervical Rib |
|
Cervical ribs |
OMIM:117900 |
Microcephaly With Cervical Spine Fusion Anomalies |
|
Vertebral fusion, Spinal instability |
OMIM:251250 |
Neurogenic Thoracic Outlet Syndrome |
|
Abnormal rib morphology |
ORPHA:100073 |
Spinal Muscular Atrophy, Ryukyuan Type |
|
Kyphoscoliosis |
OMIM:271200 |
Vertebral Fusion, Posterior Lumbosacral, With Blepharoptosis |
|
Posterior fusion of lumbosacral vertebrae |
OMIM:192800 |
Poland Syndrome |
|
Sprengel anomaly, Rib fusion, Short ribs, Hemivertebrae |
OMIM:173800 |
Vertebral Hypoplasia With Lumbar Kyphosis |
|
Vertebral hypoplasia, Lumbar kyphosis |
OMIM:192900 |
Spondylocostal Dysostosis 4, Autosomal Recessive |
|
Vertebral fusion, Abnormal odontoid process morphology, Block vertebrae, Missing ribs, Pectus exc... |
OMIM:613686 |
Brachyolmia, Maroteaux Type |
|
Pectus excavatum, Short thorax, Abnormal form of the vertebral bodies, Platyspondyly, Scoliosis |
ORPHA:93302 |
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type |
|
Lumbar hyperlordosis, Decreased hip abduction, Pectus carinatum, Genu valgum, Irregular vertebral... |
OMIM:609223 |
Becker Nevus Syndrome |
|
Pectus excavatum, Kyphosis, Rib fusion, Pectus carinatum, Supernumerary ribs, Scoliosis, Spina bi... |
ORPHA:64755 |
Klippel-Feil Syndrome 3, Autosomal Dominant |
|
Thoracic scoliosis, Cervical C3/C4 vertebral fusion, Cervical C5/C6 vertebrae fusion |
OMIM:613702 |
Primary Basilar Invagination |
|
Abnormality of the cervical spine, Abnormal vertebral morphology, Short neck |
ORPHA:2285 |
Sprengel Deformity |
|
Rib segmentation abnormalities, Cervical segmentation defect, Hemivertebrae, Scoliosis, Sprengel ... |
OMIM:184400 |
Ankylosing Vertebral Hyperostosis With Tylosis |
|
Vertebral hyperostosis |
OMIM:106400 |
Intellectual Developmental Disorder, X-Linked 19 |
|
Scoliosis, Kyphoscoliosis |
OMIM:300844 |
Ichthyosis--Cheek--Eyebrow Syndrome |
|
Kyphoscoliosis |
OMIM:146720 |
Isolated Klippel-Feil Syndrome |
|
Spina bifida, Short neck, Abnormal sacrum morphology, Abnormal rib morphology, Abnormal shoulder ... |
ORPHA:2345 |
Osteomesopyknosis |
|
Kyphosis, Sclerotic vertebral body, Scoliosis, Abnormal form of the vertebral bodies |
ORPHA:2777 |
Autosomal Recessive Spondylocostal Dysostosis |
|
Rib segmentation abnormalities, Abnormal intervertebral disk morphology, Camptodactyly of finger,... |
ORPHA:2311 |
Brachyolmia Type 1, Hobaek Type |
|
Back pain, Osteopenia, Sclerotic foci of metaphyses of the elbow, Short neck, Kyphosis, Flat acet... |
OMIM:271530 |
Spondyloepiphyseal Dysplasia, Stanescu Type |
|
Beaking of vertebral bodies, Vertebral wedging, Platyspondyly, Kyphoscoliosis |
OMIM:616583 |
Kyphomelic Dysplasia |
|
Anterior rib cupping, Missing ribs, Lateral clavicle hook, Joint stiffness, Short thorax, Limitat... |
ORPHA:1801 |
Brachyolmia Type 1, Toledo Type |
|
Back pain, Kyphoscoliosis, Short neck, Irregular vertebral endplates, Squared-off platyspondyly, ... |
OMIM:271630 |
Cervical Hypertrichosis With Underlying Kyphoscoliosis |
|
Kyphoscoliosis |
OMIM:117850 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3 |
|
Vertebral fusion, Sacral dimple, Short thorax, Vertebral segmentation defect |
OMIM:618845 |
Acromesomelic Dysplasia, Maroteaux Type |
|
Ovoid vertebral bodies, Hyperlordosis, Joint stiffness, Kyphosis, Abnormal form of the vertebral ... |
ORPHA:40 |
Multiple Synostoses Syndrome 2 |
|
Vertebral fusion, Tarsal synostosis, Humeroradial synostosis, Finger symphalangism, Proximal symp... |
OMIM:610017 |
Cerebrofaciothoracic Dysplasia |
|
Short neck, Rib fusion, Hemivertebrae, Vertebral segmentation defect, Narrow chest, Bifid ribs, S... |
ORPHA:1394 |
Heart Defects-Limb Shortening Syndrome |
|
Accelerated skeletal maturation, Kyphosis, Abnormal rib morphology, Abnormal form of the vertebra... |
ORPHA:1354 |
Endosteal Hyperostosis, Worth Type |
|
Sclerotic vertebral body, Generalized osteosclerosis, Abnormal rib morphology, Abnormal form of t... |
ORPHA:2790 |
Basal Cell Nevus Syndrome 1 |
|
Vertebral fusion, Down-sloping shoulders, Spina bifida, Kyphoscoliosis, Hemivertebrae, Irregular ... |
OMIM:109400 |
Parkinson-Dementia Syndrome |
|
Kyphoscoliosis |
OMIM:260540 |
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy |
|
Kyphoscoliosis |
OMIM:619099 |
Klippel-Feil Syndrome 2, Autosomal Recessive |
|
Short neck, Fused cervical vertebrae, Scoliosis, Cervical C2/C3 vertebral fusion, Sprengel anomaly |
OMIM:214300 |
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies |
|
Superior rib anomalies, Abnormality of the cervical spine |
OMIM:307500 |
Parastremmatic Dwarfism |
|
Kyphosis, Scoliosis, Short neck |
OMIM:168400 |
Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes |
|
Irregular vertebral endplates, Platyspondyly, Lumbar scoliosis, Kyphoscoliosis |
OMIM:612847 |
Osteoarthritis With Mild Chondrodysplasia |
|
Heberden's node, Joint stiffness, Knee osteoarthritis, Schmorl's node, Irregular vertebral endpla... |
OMIM:604864 |
Osteogenesis Imperfecta, Type Ix |
|
Recurrent fractures, Beaded ribs, Pectus excavatum, Kyphosis, Multiple prenatal fractures, Pectus... |
OMIM:259440 |
Spondylometaphyseal Dysplasia, A4 Type |
|
Platyspondyly, Limitation of joint mobility, Flared, irregular rib ends |
ORPHA:168555 |
Spondyloepiphyseal Dysplasia Tarda, Kohn Type |
|
Abnormality of the knee, Restricted large joint movement, Platyspondyly, Abnormality of the ankle... |
ORPHA:163665 |
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome |
|
Abnormal rib morphology |
ORPHA:2435 |
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B |
|
Fused thoracic vertebrae, Tarsal synostosis, Short neck, Flexion contracture, Antecubital pterygi... |
OMIM:618469 |
Spondylocamptodactyly Syndrome |
|
Platyspondyly, Scoliosis |
ORPHA:3180 |
Femoral-Facial Syndrome |
|
Abnormal sacrum morphology, Rib fusion, Abnormal rib morphology, Vertebral segmentation defect, R... |
ORPHA:1988 |
Acrodysplasia Scoliosis |
|
Vertebral segmentation defect, Spina bifida occulta, Scoliosis |
ORPHA:2956 |
Orofaciodigital Syndrome Xi |
|
Hypoplasia of the odontoid process, Kyphoscoliosis |
OMIM:612913 |
Spondylometaphyseal Dysplasia, Type A4 |
|
Ovoid vertebral bodies, Enlargement of the costochondral junction, Flat acetabular roof, Pectus c... |
OMIM:609052 |
Aphalangia, Partial, With Syndactyly And Duplication Of Metatarsal Iv |
|
Kyphoscoliosis |
OMIM:600384 |
Horizontal Gaze Palsy With Progressive Scoliosis |
|
Kyphosis, Scoliosis, Short neck |
ORPHA:2744 |
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A |
|
Barrel-shaped chest, Vertebral fusion, Hip contracture, Elbow contracture, Multiple pterygia, Sho... |
OMIM:178110 |
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
|
Vertebral fusion, Block vertebrae, Short neck, Missing ribs, Rib fusion, Hemivertebrae, Thin ribs... |
OMIM:271520 |
Spondylosis, Cervical |
|
Spondylolysis, Spina bifida occulta, Cervical spondylosis, Spondylolisthesis |
OMIM:184300 |
Metatropic Dysplasia |
|
Abnormal intervertebral disk morphology, Camptodactyly of finger, Abnormal enchondral ossificatio... |
ORPHA:2635 |
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome |
|
Fused cervical vertebrae, Abnormal sacrum morphology, Thoracic hemivertebrae, Scoliosis |
ORPHA:1436 |
Spondyloepiphyseal Dysplasia, Kimberley Type |
|
Delayed skeletal maturation, Platyspondyly, Genu varum, Genu valgum |
OMIM:608361 |
Bruck Syndrome 1 |
|
Joint laxity, Hip contracture, Protrusio acetabuli, Ankle flexion contracture, Kyphosis, Osteopor... |
OMIM:259450 |
Thoracolaryngopelvic Dysplasia |
|
Irregular chondrocostal junctions, Bell-shaped thorax, Irregular vertebral endplates, Short ribs,... |
OMIM:187760 |
Spondylometaphyseal Dysplasia, X-Linked |
|
Hyperextensibility of the finger joints, Hip contracture, Enlarged joints, Thoracolumbar scoliosi... |
OMIM:313420 |
Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant |
|
Barrel-shaped chest, Lumbar hyperlordosis, Kyphoscoliosis, Short neck, Avascular necrosis of the ... |
OMIM:184100 |
Galactosialidosis |
|
Abnormality of the vertebral column, Abnormal vertebral morphology |
ORPHA:351 |
Becker Nevus Syndrome |
|
Pectus excavatum, Cervical ribs, Hemivertebrae, Scoliosis |
OMIM:604919 |
Klippel-Feil Syndrome 1, Autosomal Dominant |
|
Short neck, Abnormal rib morphology, Scoliosis, Cervical C2/C3 vertebral fusion, Sprengel anomaly... |
OMIM:118100 |
Nemaline Myopathy 5B, Autosomal Recessive, Childhood-Onset |
|
Kyphoscoliosis, Scoliosis, Spinal rigidity |
OMIM:620386 |
Developmental And Speech Delay Due To Sox5 Deficiency |
|
Thoracic kyphoscoliosis, Vertebral fusion, Lumbar hyperlordosis, Pectus carinatum, Scoliosis, But... |
ORPHA:313892 |
Mesomelic Dysplasia, Kantaputra Type |
|
Camptodactyly of finger, Tarsal synostosis, Abnormal rib morphology, Vertebral segmentation defec... |
ORPHA:1836 |
Spondyloepiphyseal Dysplasia, Kimberley Type |
|
Platyspondyly, Short thorax, Osteoarthritis |
ORPHA:93283 |
Aicardi Syndrome |
|
Block vertebrae, Spina bifida, Missing ribs, Rib fusion, Hemivertebrae, Supernumerary ribs, Bifid... |
OMIM:304050 |
Kuskokwim Syndrome |
|
Abnormal clavicle morphology, Aplasia/Hypoplasia of the patella, Joint stiffness, Abnormal form o... |
ORPHA:1149 |
Dysspondyloenchondromatosis |
|
Joint dislocation, Enlarged joints, Kyphoscoliosis, Osteoarthritis, Generalized joint laxity, Del... |
ORPHA:85198 |
Spondylometaphyseal Dysplasia, Axial |
|
Anterior rib cupping, Platyspondyly, Narrow chest, Scoliosis, Thoracic hypoplasia |
OMIM:602271 |
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods |
|
Fusion of midcervical facet joints, Widening of cervical spinal canal, Cervical vertebral bodies ... |
OMIM:606842 |
Acropectorovertebral Dysplasia |
|
Capitate-hamate fusion, Abnormal thorax morphology, Spina bifida occulta at S1, Spina bifida occu... |
OMIM:102510 |
Spondyloepiphyseal Dysplasia Tarda With Mental Retardation |
|
Platyspondyly, Anterior beaking of lumbar vertebrae |
OMIM:271620 |
Pyle Disease |
|
Abnormal thorax morphology, Reduced bone mineral density, Genu valgum, Platyspondyly, Scoliosis, ... |
OMIM:265900 |
Osteogenesis Imperfecta, Type Xv |
|
Recurrent fractures, Thin ribs, Platyspondyly, Bowing of limbs due to multiple fractures, Scolios... |
OMIM:615220 |
Greenberg Dysplasia |
|
Abnormally ossified vertebrae, Abnormal pelvis bone ossification, Anterior rib punctate calcifica... |
ORPHA:1426 |
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1 |
|
Beaking of vertebral bodies, Vertebral fusion, Sacral dimple, Hyperextensibility of the finger jo... |
OMIM:213980 |
Maternal Uniparental Disomy Of Chromosome 9 |
|
Abnormal vertebral morphology, Kyphoscoliosis, Short neck |
ORPHA:96183 |
Epiphyseal Dysplasia, Multiple, 7 |
|
Advanced ossification of carpal bones, Flat acetabular roof, Vertebral wedging, Platyspondyly, Ge... |
OMIM:617719 |
Atelosteogenesis, Type Ii |
|
Death in infancy, Lumbar hyperlordosis, Cervical kyphosis, Short neck, Increased intervertebral s... |
OMIM:256050 |
Microcephaly-Cervical Spine Fusion Anomalies Syndrome |
|
Abnormal clavicle morphology, Hyperlordosis, Pectus excavatum, Short neck, Kyphosis, Abnormal rib... |
ORPHA:2522 |
Second Metatarsal-Metacarpal Syndrome |
|
Platyspondyly, Synostosis of carpals/tarsals |
OMIM:269630 |
Spondyloepimetaphyseal Dysplasia, Di Rocco Type |
|
Delayed skeletal maturation, Reduced bone mineral density, Platyspondyly, Delayed ossification of... |
OMIM:617974 |
Mental Retardation, Skeletal Dysplasia, And Abducens Palsy |
|
Fused cervical vertebrae, Prominent metopic ridge, Thoracic hemivertebrae, Scoliosis |
OMIM:309620 |
Metatropic Dysplasia |
|
Enlarged joints, Flexion contracture, Long coccyx, Narrow chest, Flaring of rib cage, Anisospondy... |
OMIM:156530 |
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2 |
|
Vertebral segmentation defect, Abnormal rib morphology, Short neck |
ORPHA:2578 |
Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Lumbar hyperlordosis, Hypoplastic sacrum, Enlargement of the costochondral junction, Osteoarthrit... |
OMIM:271650 |
Multiple Pterygium Syndrome, X-Linked |
|
Joint dislocation, Vertebral fusion, Abnormal cervical curvature, Multiple pterygia, Flexion cont... |
OMIM:312150 |
Multiple Pterygium Syndrome, Escobar Variant |
|
Multiple joint contractures, Short neck, Flexion contracture, Knee flexion contracture, Intercrur... |
OMIM:265000 |
Diastrophic Dysplasia |
|
Lumbar hyperlordosis, Cervical kyphosis, Kyphoscoliosis, Scoliosis, Hypoplastic cervical vertebrae |
OMIM:222600 |
Spondyloepiphyseal Dysplasia, Maroteaux Type |
|
Platyspondyly, Genu valgum |
OMIM:184095 |
Aicardi Syndrome |
|
Block vertebrae, Missing ribs, Rib fusion, Supernumerary ribs, Scoliosis, Bifid ribs, Butterfly v... |
ORPHA:50 |
Brachydactyly, Type B1 |
|
Vertebral fusion, Hypoplastic sacrum, Thoracolumbar scoliosis, Hemivertebrae, Camptodactyly, Join... |
OMIM:113000 |
Brachydactylous Dwarfism, Mseleni Type |
|
Osteopenia, Protrusio acetabuli, Limitation of joint mobility, Knee osteoarthritis, Platyspondyly... |
ORPHA:2619 |
Progressive Pseudorheumatoid Arthropathy Of Childhood |
|
Irregularity of vertebral bodies, Wrist swelling, Abnormal shoulder morphology, Irregular vertebr... |
ORPHA:1159 |
Schneckenbecken Dysplasia |
|
Hypoplastic scapulae, Anterior rib cupping, Ovoid vertebral bodies, Short neck, Lateral clavicle ... |
OMIM:269250 |
Kbg Syndrome |
|
Vertebral fusion, Persistent open anterior fontanelle, Short neck, Delayed skeletal maturation, C... |
ORPHA:2332 |
Multiple Pterygium Syndrome, Lethal Type |
|
Joint dislocation, Vertebral fusion, Abnormal cervical curvature, Multiple pterygia, Flexion cont... |
OMIM:253290 |
Seckel Syndrome 8 |
|
Kyphoscoliosis |
OMIM:615807 |
Ring Chromosome 21 Syndrome |
|
Fused thoracic vertebrae, Thoracic hemivertebrae, Abnormal thorax morphology, Scoliosis |
ORPHA:1445 |
Brachyolmia Type 2 |
|
Platyspondyly |
OMIM:613678 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3 |
|
Joint laxity, Short neck, Multiple joint dislocation, Hip dislocation, Thin ribs, Irregular verte... |
OMIM:618395 |
Pseudoachondroplasia |
|
Limited hip extension, Distal joint laxity, Delayed epiphyseal ossification, Osteoarthritis, Gene... |
ORPHA:750 |
Charcot-Marie-Tooth Disease, Axonal, Type 2B1 |
|
Kyphoscoliosis |
OMIM:605588 |
Microcephaly-Brachydactyly-Kyphoscoliosis Syndrome |
|
Atlantoaxial abnormality, Kyphoscoliosis |
ORPHA:3433 |
Autosomal Recessive Multiple Pterygium Syndrome |
|
Camptodactyly of finger, Multiple pterygia, Pectus excavatum, Limitation of joint mobility, Rib f... |
ORPHA:2990 |
Nemaline Myopathy 7 |
|
Lumbar hyperlordosis, Kyphoscoliosis |
OMIM:610687 |
Osteogenesis Imperfecta, Type V |
|
Osteopenia, Hyperextensibility of the finger joints, Wormian bones, Recurrent fractures, Vertebra... |
OMIM:610967 |
Spondyloepimetaphyseal Dysplasia, Handigodu Type |
|
Abnormality of the knee, Hip contracture, Lumbar hyperlordosis, Abnormal intervertebral disk morp... |
ORPHA:99642 |
Keratoconus Posticus Circumscriptus |
|
Limited elbow extension and supination, Abnormal vertebral segmentation and fusion, Short neck |
OMIM:244600 |
Pseudodiastrophic Dysplasia |
|
Elbow dislocation, Platyspondyly, Phalangeal dislocation, Scoliosis |
ORPHA:85174 |
Spondyloepiphyseal Dysplasia Tarda, X-Linked |
|
Barrel-shaped chest, Back pain, Lumbar hyperlordosis, Short neck, Kyphosis, Limitation of joint m... |
OMIM:313400 |
Intellectual Developmental Disorder, X-Linked 111 |
|
Kyphoscoliosis |
OMIM:301107 |
Pontine Tegmental Cap Dysplasia |
|
Ankle clonus, Rib fusion, Hemivertebrae, Scoliosis |
OMIM:614688 |
Morquio Syndrome C |
|
Platyspondyly |
OMIM:252300 |
Spondyloepiphyseal Dysplasia Tarda |
|
Back pain, Osteoarthritis of the distal interphalangeal joint, Limited elbow movement, Short neck... |
ORPHA:93284 |
Epiphyseal Dysplasia, Multiple, With Severe Proximal Femoral Dysplasia |
|
Irregularity of vertebral bodies, Platyspondyly, Genu valgum |
OMIM:609324 |
Charcot-Marie-Tooth Disease, Axonal, Type 2K |
|
Kyphoscoliosis |
OMIM:607831 |
Kniest Dysplasia |
|
Arthropathy, Enlarged joints, Short neck, Joint stiffness, Hypoplasia of the odontoid process, De... |
ORPHA:485 |
Thanatophoric Dysplasia, Type Ii |
|
Small abnormally formed scapulae, Wide-cupped costochondral junctions, Platyspondyly, Short ribs,... |
OMIM:187601 |
Mucopolysaccharidosis, Type Iva |
|
Joint laxity, Ulnar deviation of the wrist, Ovoid vertebral bodies, Short neck, Hyperlordosis, Hy... |
OMIM:253000 |
Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Enlarged joints, Kyphoscoliosis, Short neck, Hypoplasia of the odontoid process, Delayed skeletal... |
OMIM:184252 |
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome |
|
Short neck, Abnormal rib morphology, Hemivertebrae, Abnormal form of the vertebral bodies, Abnorm... |
ORPHA:2234 |
Spondylometaphyseal Dysplasia With Corneal Dystrophy |
|
Increased intervertebral space, Thoracic platyspondyly, Short ribs, Narrow chest, Death in childh... |
OMIM:618961 |
Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Osteoarthritis, Limitation of joint mobility, Abnormal rib morphology, Abnormal carpal morphology... |
ORPHA:93351 |
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly |
|
Lateral clavicle hook, Trident acetabulum, Narrow chest, Short ribs, Acetabular spurs, Horizontal... |
OMIM:617405 |
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type |
|
Short neck, Reduced bone mineral density, Pectus carinatum, Abnormal bone ossification, Abnormal ... |
ORPHA:93315 |
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type |
|
Platyspondyly, Scoliosis, Genu varum |
OMIM:618728 |
Myotonia With Skeletal Abnormalities And Mental Retardation |
|
Vertebral wedging, Kyphoscoliosis |
OMIM:255710 |
Fetal Akinesia Deformation Sequence 4 |
|
11 pairs of ribs, Short neck, Kyphosis, Prenatal death, Camptodactyly, Neonatal death, Arthrogryp... |
OMIM:618393 |
Kyphoscoliosis-Lateral Tongue Atrophy-Hereditary Spastic Paraplegia Syndrome |
|
Kyphoscoliosis |
ORPHA:496689 |
Muscular Dystrophy, Congenital Merosin-Deficient, 1A |
|
Kyphoscoliosis |
OMIM:607855 |
Charcot-Marie-Tooth Disease Type 1A |
|
Kyphoscoliosis |
ORPHA:101081 |
Congenital Myopathy 23 |
|
Kyphoscoliosis |
OMIM:609285 |
Congenital Disorder Of Glycosylation, Type Iig |
|
Osteopenia, Thoracic scoliosis, Kyphoscoliosis, Short neck, Rib fusion, Posterior rib gap, Verteb... |
OMIM:611209 |
Spondyloepiphyseal Dysplasia Congenita |
|
Barrel-shaped chest, Lumbar hyperlordosis, Ovoid vertebral bodies, Limited elbow movement, Short ... |
OMIM:183900 |
Osteogenesis Imperfecta, Type Xxi |
|
Barrel-shaped chest, Recurrent fractures, Pectus excavatum, Osteoporosis, Bell-shaped thorax, Pla... |
OMIM:619131 |
Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures |
|
Kyphoscoliosis |
OMIM:617977 |
Wildervanck Syndrome |
|
Fused cervical vertebrae |
OMIM:314600 |
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness |
|
Lumbar hyperlordosis, Cupped ribs, Flat acetabular roof, Irregular vertebral endplates, Platyspon... |
OMIM:609616 |
Axial Spondylometaphyseal Dysplasia |
|
Osteopenia, Aplasia/Hypoplasia of the ribs, Thoracic scoliosis, Aplasia/Hypoplasia of the vertebr... |
ORPHA:168549 |
Roussy-Lévy Syndrome |
|
Kyphoscoliosis, Scoliosis |
ORPHA:3115 |
Microphthalmia, Syndromic 13 |
|
Kyphoscoliosis |
OMIM:300915 |
Verheij Syndrome |
|
Branchial cyst, Vertebral fusion, Joint laxity, Short neck, Hemivertebrae, Hip dislocation, Scoli... |
OMIM:615583 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5 |
|
Vertebral fusion, Elbow contracture, Hyperlordosis, Kyphosis, Achilles tendon contracture, Scoliosis |
OMIM:606612 |
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Abnormal clavicle morphology, Short neck, Abnormal rib morphology, Platyspondyly, Narrow chest, D... |
ORPHA:93267 |
Wildervanck Syndrome |
|
Fused cervical vertebrae, Meningocele, Short neck |
ORPHA:3456 |
Smith-Mccort Dysplasia 1 |
|
Barrel-shaped chest, Multicentric femoral head ossification, Hypoplastic scapulae, Short neck, Hy... |
OMIM:607326 |
Vertebral Hypersegmentation And Orofacial Anomalies |
|
Pectus excavatum, Scapular winging, Supernumerary ribs, Six lumbar vertebrae |
OMIM:619122 |
Roussy-Levy Hereditary Areflexic Dystasia |
|
Kyphoscoliosis |
OMIM:180800 |
Septopreoptic Holoprosencephaly |
|
Abnormal rib morphology, Abnormal vertebral morphology, Ethmoidal encephalocele |
ORPHA:280195 |
Hyperekplexia 4 |
|
Kyphoscoliosis |
OMIM:618011 |
Fibrochondrogenesis 2 |
|
Cupped ribs, Bell-shaped thorax, Platyspondyly, Short ribs, Thoracic hypoplasia |
OMIM:614524 |
Proximal 16P11.2 Microdeletion Syndrome |
|
Craniosynostosis, Rib fusion, Abnormal vertebral morphology, Scoliosis |
ORPHA:261197 |
Spondyloepimetaphyseal Dysplasia, Strudwick Type |
|
Anterior rib cupping, Hyperlordosis, Hypoplasia of the odontoid process, Pectus carinatum, Genu v... |
OMIM:184250 |
Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Kyphoscoliosis |
OMIM:300886 |
Bruck Syndrome 2 |
|
Osteopenia, Flexion contracture, Elbow flexion contracture, Pectus carinatum, Increased susceptib... |
OMIM:609220 |
Multiple Epiphyseal Dysplasia, Beighton Type |
|
Low back pain, Thoracic scoliosis, Abnormal acetabulum morphology, Joint stiffness, Thoracic plat... |
ORPHA:166011 |
Charcot-Marie-Tooth Disease, Axonal, Type 2X |
|
Kyphoscoliosis |
OMIM:616668 |
White Forelock With Malformations |
|
Delayed skeletal maturation, Abnormal rib morphology, Joint hyperflexibility, Sprengel anomaly, S... |
ORPHA:2475 |
Charcot-Marie-Tooth Disease, Type 4K |
|
Kyphoscoliosis |
OMIM:616684 |
Lethal Congenital Contracture Syndrome Type 1 |
|
Recurrent fractures, Short neck, Limitation of joint mobility, Abnormal rib morphology, Abnormali... |
ORPHA:1486 |
Leukodystrophy, Hypomyelinating, 17 |
|
Kyphoscoliosis |
OMIM:618006 |
Intellectual Developmental Disorder, Autosomal Recessive 39 |
|
Kyphoscoliosis |
OMIM:615541 |
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome |
|
Vertebral fusion, Elbow dislocation, Kyphosis, Hemivertebrae, Abnormal form of the vertebral bodi... |
ORPHA:2916 |
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type |
|
Lumbar hyperlordosis, Ovoid vertebral bodies, Pectus excavatum, Limited elbow extension, Flat ace... |
OMIM:608728 |
Aarskog-Scott Syndrome |
|
Genu recurvatum, Camptodactyly of finger, Short neck, Pectus excavatum, Joint hyperflexibility, U... |
ORPHA:915 |
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia |
|
Delayed vertebral ossification, Thoracic kyphoscoliosis, Back pain, Kyphoscoliosis, Short neck, S... |
OMIM:613330 |
Thoracic Dysostosis, Isolated |
|
Pectus excavatum, Short ribs, Bell-shaped thorax |
OMIM:187750 |
Microcephalic Osteodysplastic Dysplasia, Saul-Wilson Type |
|
Irregularity of vertebral bodies, Platyspondyly, Hypoplasia of the odontoid process |
ORPHA:85172 |
Flynn-Aird Syndrome |
|
Kyphoscoliosis |
OMIM:136300 |
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
|
Kyphosis, Platyspondyly, Osteoporosis |
ORPHA:2786 |
Multiple Epiphyseal Dysplasia Type 5 |
|
Back pain, Osteoarthritis of the small joints of the hand, Abnormal acetabulum morphology, Decrea... |
ORPHA:93311 |
Brachyolmia Type 3 |
|
Barrel-shaped chest, Short neck, Kyphosis, Platyspondyly, Scoliosis |
OMIM:113500 |
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive |
|
Hip osteoarthritis, Platyspondyly, Osteoarthritis |
OMIM:271600 |
Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Joint laxity, Lumbar hyperlordosis, Short neck, Delayed epiphyseal ossification, Genu varum, Bell... |
OMIM:602557 |
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency |
|
Kyphoscoliosis |
ORPHA:300179 |
Gm1-Gangliosidosis, Type Iii |
|
Kyphosis, Platyspondyly, Scoliosis, Anterior beaking of lumbar vertebrae, Hypoplastic acetabulae |
OMIM:230650 |
Pseudoachondroplasia |
|
Joint laxity, Lumbar hyperlordosis, Genu recurvatum, Limited hip extension, Spatulate ribs, Ulnar... |
OMIM:177170 |
Gorlin Syndrome |
|
Vertebral fusion, Vertebral wedging, Hemivertebrae, Scoliosis |
ORPHA:377 |
Geroderma Osteodysplastica |
|
Recurrent fractures, Vertebral compression fracture, Osteoporosis, Abnormal form of the vertebral... |
ORPHA:2078 |
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly |
|
Multiple small vertebral fractures, Osteoporosis of vertebrae, Platyspondyly |
OMIM:156510 |
Ullrich Congenital Muscular Dystrophy 2 |
|
Kyphoscoliosis |
OMIM:616470 |
Osteogenesis Imperfecta, Type Ii |
|
Recurrent fractures, Beaded ribs, Multiple prenatal fractures, Absent ossification of calvaria, T... |
OMIM:166210 |
Osteogenesis Imperfecta, Type Vi |
|
Joint laxity, Protrusio acetabuli, Vertebral compression fracture, Increased susceptibility to fr... |
OMIM:613982 |
Proteus Syndrome |
|
Spinal canal stenosis, Kyphoscoliosis |
OMIM:176920 |
Stuve-Wiedemann Syndrome 2 |
|
Death in adolescence, Stillbirth, Scoliosis, Camptodactyly, Neonatal death, Thoracic hypoplasia |
OMIM:619751 |
Microphthalmia, Syndromic 3 |
|
Vertebral fusion, Missing ribs, Rib fusion, Hemivertebrae, Supernumerary ribs, Butterfly vertebra... |
OMIM:206900 |
Osteogenesis Imperfecta, Type Xiii |
|
Increased bone mineral density, Recurrent fractures, Kyphoscoliosis, Osteoporosis, Pectus carinat... |
OMIM:614856 |
Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Increased intervertebral space, Delayed epiphyseal ossification, Pectus carinatum, Thoracic kypho... |
ORPHA:93314 |
Ck Syndrome |
|
Lumbar hyperlordosis, Kyphoscoliosis |
ORPHA:251383 |
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome |
|
Abnormal intervertebral disk morphology, Joint stiffness, Osteoarthritis, Platyspondyly, Avascula... |
ORPHA:1345 |
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy |
|
Ovoid vertebral bodies, Joint stiffness, Cupped ribs, Platyspondyly, Scoliosis, Severe platyspondyly |
OMIM:608940 |
Odontochondrodysplasia 1 |
|
Death in infancy, Biconvex vertebral bodies, Genu recurvatum, Osteoporosis, Flat acetabular roof,... |
OMIM:184260 |
Craniodiaphyseal Dysplasia |
|
Abnormal rib morphology |
ORPHA:1513 |
Kbg Syndrome |
|
Vertebral fusion, Short neck, Delayed skeletal maturation, Rib fusion, Vertebral arch anomaly, Ce... |
OMIM:148050 |
Mitochondrial Complex I Deficiency, Nuclear Type 8 |
|
Kyphoscoliosis |
OMIM:618230 |
Robinow Syndrome, Autosomal Recessive 1 |
|
Joint laxity, Vertebral fusion, Hypoplastic sacrum, Thoracolumbar scoliosis, Thoracic hemivertebr... |
OMIM:268310 |
Infantile Cataract, Skin Abnormalities, Glutamate Excess, And Impaired Intellectual Development |
|
Kyphoscoliosis |
OMIM:618339 |
Odontochondrodysplasia |
|
Death in infancy, Joint hyperflexibility, Platyspondyly, Narrow chest, Scoliosis |
ORPHA:166272 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5 |
|
Vertebral fusion, Hyperlordosis, Kyphosis, Achilles tendon contracture, Scoliosis |
OMIM:607155 |
Thanatophoric Dysplasia Type 2 |
|
Encephalocele, Kyphosis, Short thorax, Limitation of joint mobility, Joint hyperflexibility, Plat... |
ORPHA:93274 |
Arthrogryposis Multiplex Congenita 3, Myogenic Type |
|
Kyphosis, Kyphoscoliosis, Scoliosis |
OMIM:618484 |
Laryngotracheoesophageal Cleft Type 4 |
|
Abnormal rib morphology, Abnormal form of the vertebral bodies |
ORPHA:93941 |
Congenital Muscular Dystrophy Without Intellectual Disability |
|
Kyphoscoliosis |
ORPHA:370980 |
Mayer-Rokitansky-Küster-Hauser Syndrome |
|
Vertebral fusion, Abnormal sacrum morphology, Abnormal form of the vertebral bodies, Vertebral se... |
ORPHA:3109 |
Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Irregular sclerotic endplates, Osteoarthritis, Delayed skeletal maturation, Platyspondyly, Flared... |
OMIM:602111 |
Spondylocarpotarsal Synostosis Syndrome |
|
Vertebral fusion, Scapular winging, Block vertebrae, Tarsal synostosis, Short neck, Hyperlordosis... |
OMIM:272460 |
Progressive Pseudorheumatoid Dysplasia |
|
Arthropathy, Enlarged interphalangeal joints, Camptodactyly of finger, Kyphoscoliosis, Joint stif... |
OMIM:208230 |
Familial Congenital Mirror Movements |
|
Fused cervical vertebrae |
ORPHA:238722 |
Pseudodiastrophic Dysplasia |
|
Lumbar hyperlordosis, Phalangeal dislocation, Short neck, Elbow dislocation, Hypoplasia of the od... |
OMIM:264180 |
Otopalatodigital Syndrome Type 1 |
|
Increased bone mineral density, Elbow dislocation, Limitation of joint mobility, Abnormal vertebr... |
ORPHA:90650 |
Whistling Face Syndrome, Recessive Form |
|
Kyphoscoliosis, Short neck |
OMIM:277720 |
Brown-Vialetto-Van Laere Syndrome 2 |
|
Kyphoscoliosis, Scoliosis |
OMIM:614707 |
Joint Laxity, Short Stature, And Myopia |
|
Cervical kyphosis, Kyphoscoliosis |
OMIM:617662 |
Caudal Regression Syndrome |
|
Joint stiffness, Missing ribs, Aplasia/Hypoplasia of the sacrum, Hypoplastic vertebral bodies, Sc... |
ORPHA:3027 |
Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Joint laxity, Hyperlordosis, Short neck, Delayed epiphyseal ossification, Premature osteoarthriti... |
ORPHA:93352 |
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome |
|
Increased bone mineral density, Ovoid vertebral bodies, Short neck, Wide anterior fontanel, Abnor... |
ORPHA:163649 |
Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant |
|
Platyspondyly, Premature osteoarthritis |
OMIM:184840 |
Diastrophic Dysplasia |
|
Joint dislocation, Abnormal clavicle morphology, Increased bone mineral density, Camptodactyly of... |
ORPHA:628 |
Osteogenesis Imperfecta, Type Xvi |
|
Osteopenia, Multiple rib fractures, Recurrent fractures, Beaded ribs, Platyspondyly, Decreased ca... |
OMIM:616229 |
Mucopolysaccharidosis, Type X |
|
Irregular acetabular roof, Spatulate ribs, Hyperlordosis, Broad clavicles, Genu valgum, Platyspon... |
OMIM:619698 |
Mucopolysaccharidosis, Type Ivb |
|
Joint laxity, Ulnar deviation of the wrist, Ovoid vertebral bodies, Hyperlordosis, Joint stiffnes... |
OMIM:253010 |
Alkaptonuria |
|
Arthropathy, Vertebral fusion, Low back pain, Kyphosis, Limited shoulder movement, Arthritis, Lim... |
OMIM:203500 |
Mucopolysaccharidosis Type 4 |
|
Joint dislocation, Hyperlordosis, Short neck, Kyphosis, Delayed skeletal maturation, Short thorax... |
ORPHA:582 |
Frontometaphyseal Dysplasia 1 |
|
Scapular winging, Interphalangeal joint contracture of finger, Limited elbow movement, Ankle flex... |
OMIM:305620 |
Lethal Kniest-Like Dysplasia |
|
Anterior rib cupping, Short neck, Wide anterior fontanel, Abnormal cartilage morphology, Abnormal... |
ORPHA:2347 |
Kniest Dysplasia |
|
Hip contracture, Enlarged joints, Short neck, Pectus excavatum, Abnormal cartilage collagen, Dela... |
OMIM:156550 |
Dental Anomalies And Short Stature |
|
Delayed skeletal maturation, Platyspondyly, Herniation of intervertebral nuclei, Scoliosis, Narro... |
OMIM:601216 |
Thanatophoric Dysplasia, Type I |
|
Small abnormally formed scapulae, Short neck, Wide-cupped costochondral junctions, Platyspondyly,... |
OMIM:187600 |
Mucolipidosis Iii Gamma |
|
Hyperlordosis, Short neck, Kyphosis, Joint stiffness, Pectus carinatum, Genu valgum, Abnormal rib... |
OMIM:252605 |
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly |
|
Lateral clavicle hook, Bell-shaped thorax, Thoracic dysplasia, Narrow chest, Horizontal ribs |
OMIM:615633 |
Lateral Meningocele Syndrome |
|
Vertebral fusion, Short neck, Pectus excavatum, Kyphosis, Meningocele, Sclerosis of skull base, S... |
OMIM:130720 |
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis |
|
Kyphoscoliosis, Hyperlordosis, Irregular vertebral endplates, Coronal cleft vertebrae, Scoliosis |
OMIM:618363 |
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia |
|
Long clavicles, Lateral clavicle hook, Elbow dislocation, Anterior vertebral fusion, Shoulder dis... |
OMIM:171480 |
Scholte Syndrome |
|
Kyphoscoliosis |
OMIM:300977 |
Congenital Disorder Of Glycosylation, Type Iik |
|
Kyphoscoliosis |
OMIM:614727 |
Atelosteogenesis, Type I |
|
Encephalocele, 11 pairs of ribs, Long clavicles, Short neck, Thoracic platyspondyly, Elbow disloc... |
OMIM:108720 |
Mosaic Trisomy 14 |
|
Abnormal rib morphology, Narrow chest, Short neck |
ORPHA:1703 |
Spondylometaphyseal Dysplasia, Pagnamenta Type |
|
Delayed skeletal maturation, Platyspondyly, Wormian bones, Thoracic kyphosis |
OMIM:619638 |
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome |
|
Abnormal rib morphology, Hemivertebrae, Abnormal form of the vertebral bodies, Scoliosis, Sprenge... |
ORPHA:2180 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1A |
|
Kyphoscoliosis |
OMIM:118220 |
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies |
|
Pectus excavatum, Hypoplastic distal segments of scapulae, Abnormal rib morphology, Joint hypermo... |
OMIM:602196 |
Hypophosphatasia, Infantile |
|
Death in infancy, Craniosynostosis, Vertebral clefting, Increased susceptibility to fractures, Pl... |
OMIM:241500 |
Phaver Syndrome |
|
Camptodactyly of finger, Joint stiffness, Myelomeningocele, Abnormal rib morphology, Abnormal for... |
ORPHA:2876 |
Metaphyseal Chondrodysplasia, Schmid Type |
|
Lumbar hyperlordosis, Anterior rib cupping, Osteosclerosis of ribs, Irregular vertebral endplates... |
ORPHA:174 |
Hall-Riggs Syndrome |
|
Kyphosis, Delayed skeletal maturation, Osteoporosis, Irregular vertebral endplates, Platyspondyly... |
OMIM:234250 |
Cantu Syndrome |
|
Ovoid vertebral bodies, Short neck, Delayed skeletal maturation, Cuboid-shaped vertebral bodies, ... |
OMIM:239850 |
Autosomal Recessive Robinow Syndrome |
|
Death in infancy, Sacral dimple, Camptodactyly of finger, Short neck, Pectus excavatum, Kyphosis,... |
ORPHA:1507 |
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
|
11 pairs of ribs, Platyspondyly, Decreased skull ossification, Thin ribs |
OMIM:300863 |
Achondrogenesis Type 1B |
|
Short neck, Abnormal enchondral ossification, Short thorax, Abnormal rib morphology, Narrow chest... |
ORPHA:93298 |
Juberg-Hayward Syndrome |
|
Abnormality of the elbow, Abnormal rib morphology, Radioulnar synostosis, Scoliosis, Abnormality ... |
ORPHA:2319 |
King-Denborough Syndrome |
|
Lumbar hyperlordosis, Kyphoscoliosis, Short neck, Thoracic kyphosis, Scoliosis |
OMIM:619542 |
Dyggve-Melchior-Clausen Disease |
|
Short neck, Flat glenoid fossa, Pectus carinatum, Thoracic kyphosis, Multicentric ossification of... |
OMIM:223800 |
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Death in infancy, Short neck, Delayed epiphyseal ossification, Delayed skeletal maturation, Flat ... |
OMIM:613320 |
Schwartz-Jampel Syndrome, Type 1 |
|
Hip contracture, Lumbar hyperlordosis, Congenital hip dislocation, Cervical kyphosis, Shoulder fl... |
OMIM:255800 |
Osteogenesis Imperfecta, Type Xviii |
|
Joint laxity, Recurrent fractures, Joint hypermobility, Thin ribs, Biconcave vertebral bodies, Wo... |
OMIM:617952 |
Fibrochondrogenesis 1 |
|
Hypoplastic scapulae, Long clavicles, Anterior rib cupping, Short neck, Widely patent sagittal su... |
OMIM:228520 |
Charcot-Marie-Tooth Disease, Type 4B2 |
|
Kyphoscoliosis |
OMIM:604563 |
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type |
|
Disc-like vertebral bodies, Ovoid vertebral bodies, Short neck, Flat acetabular roof, Thin ribs, ... |
OMIM:151210 |
Bruck Syndrome |
|
Recurrent fractures, Joint stiffness, Kyphosis, Osteoporosis, Platyspondyly, Scoliosis, Wormian b... |
ORPHA:2771 |
Foxg1 Syndrome |
|
Kyphoscoliosis, Scoliosis |
ORPHA:561854 |
Imperforate Oropharynx-Costovertebral Anomalies Syndrome |
|
Missing ribs, Abnormal rib morphology, Hemivertebrae, Abnormal form of the vertebral bodies, Join... |
ORPHA:2759 |
Larsen Syndrome |
|
Joint laxity, Vertebral fusion, Cervical kyphosis, Pectus excavatum, Elbow dislocation, Dislocate... |
OMIM:150250 |
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis |
|
Osteopenia, Osteomyelitis, Osteolysis, Fused cervical vertebrae, Joint swelling, Flaring of rib c... |
OMIM:612852 |
Dyggve-Melchior-Clausen Disease |
|
Glenoid fossa hypoplasia, Short neck, Horizontal inferior border of scapula, Hypoplasia of the od... |
ORPHA:239 |
Ollier Disease |
|
Joint stiffness, Abnormal cartilage morphology, Bone pain, Osteolysis, Multiple enchondromatosis,... |
ORPHA:296 |
Grant Syndrome |
|
Joint dislocation, Abnormal rib morphology, Decreased skull ossification, Joint hyperflexibility,... |
ORPHA:2097 |
Cole-Carpenter Syndrome 2 |
|
Osteopenia, Wide cranial sutures, Recurrent fractures, Pectus excavatum, Kyphosis, Thin ribs, Pla... |
OMIM:616294 |
Ehlers-Danlos Syndrome, Classic-Like, 2 |
|
Osteopenia, Thoracic scoliosis, Short neck, Facet joint arthrosis, Osteoarthritis, Generalized jo... |
OMIM:618000 |
Mosaic Trisomy 20 |
|
Vertebral fusion, Down-sloping shoulders, Kyphosis, Spinal canal stenosis, Fused cervical vertebr... |
ORPHA:1724 |
Osteogenesis Imperfecta, Type Iii |
|
Protrusio acetabuli, Recurrent fractures, Severe generalized osteoporosis, Multiple prenatal frac... |
OMIM:259420 |
Charcot-Marie-Tooth Disease Type 4D |
|
Kyphoscoliosis |
ORPHA:99950 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type |
|
Joint laxity, Kyphoscoliosis, Hip subluxation, Kyphosis, Delayed epiphyseal ossification, General... |
ORPHA:93360 |
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies |
|
Sprengel anomaly, Abnormality of the vertebral column, Abnormal rib morphology |
OMIM:601076 |
Osteogenesis Imperfecta, Type Xi |
|
Kyphoscoliosis, Vertebral wedging, Biconcave vertebral bodies, Scoliosis, Vertebral compression f... |
OMIM:610968 |
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism |
|
Thoracolumbar scoliosis, Short neck, Flexion contracture, Cervical C2/C3 vertebral fusion, Acetab... |
OMIM:616549 |
Cog1-Cdg |
|
Osteopenia, Irregularity of vertebral bodies, Kyphoscoliosis, Short neck, Rib fusion, Posterior r... |
ORPHA:263508 |
Rhizomelic Chondrodysplasia Punctata, Type 1 |
|
Coronal cleft vertebrae, Kyphoscoliosis |
OMIM:215100 |
Holt-Oram Syndrome |
|
Abnormal clavicle morphology, Down-sloping shoulders, Joint stiffness, Pectus excavatum, Kyphosis... |
ORPHA:392 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1B |
|
Kyphoscoliosis |
OMIM:118200 |
Mucopolysaccharidosis, Type Iiia |
|
Thickened ribs, Joint stiffness, Ovoid thoracolumbar vertebrae, Scoliosis, Umbilical hernia, Dens... |
OMIM:252900 |
Fibrochondrogenesis |
|
Hypoplastic scapulae, Short neck, Wide anterior fontanel, Abnormal rib morphology, Abnormal form ... |
ORPHA:2021 |
Ataxia-Oculomotor Apraxia Type 4 |
|
Kyphoscoliosis |
ORPHA:459033 |
Paternal Uniparental Disomy Of Chromosome 5 |
|
Kyphoscoliosis |
ORPHA:96190 |
Lamb-Shaffer Syndrome |
|
Fused cervical vertebrae, Thoracic kyphosis, Scoliosis |
ORPHA:530983 |
Cantú Syndrome |
|
Ovoid vertebral bodies, Short neck, Accelerated skeletal maturation, Delayed skeletal maturation,... |
ORPHA:1517 |
Cooper-Jabs Syndrome |
|
Camptodactyly of finger, Missing ribs, Abnormal rib morphology, Reduced bone mineral density, Joi... |
ORPHA:1488 |
Autosomal Recessive Stickler Syndrome |
|
Irregular vertebral endplates, Platyspondyly, Joint hyperflexibility, Genu valgum |
ORPHA:250984 |
Lethal Congenital Contracture Syndrome 1 |
|
Neonatal death, Arthrogryposis multiplex congenita, Abnormal thorax morphology, Widening of cervi... |
OMIM:253310 |
Nevus Comedonicus Syndrome |
|
Spina bifida occulta, Scoliosis, Abnormal vertebral morphology, Spina bifida |
ORPHA:64754 |
Smith-Mccort Dysplasia 2 |
|
Barrel-shaped chest, Enlarged interphalangeal joints, Hyperlordosis, Short neck, Hypoplasia of th... |
OMIM:615222 |
Spondyloepiphyseal Dysplasia Congenita |
|
Barrel-shaped chest, Back pain, Abnormally ossified vertebrae, Lumbar hyperlordosis, Limited elbo... |
ORPHA:94068 |
Osteogenesis Imperfecta, Type X |
|
Osteopenia, Multiple rib fractures, Thoracic scoliosis, Joint laxity, Generalized joint laxity, T... |
OMIM:613848 |
Warburg Micro Syndrome 1 |
|
Kyphoscoliosis |
OMIM:600118 |
Chondroectodermal Dysplasia With Night Blindness |
|
Osteopenia, Abnormality of the knee, Fractures of the long bones, Delayed skeletal maturation, Os... |
ORPHA:319195 |
Infantile-Onset X-Linked Spinal Muscular Atrophy |
|
Hip contracture, Interphalangeal joint contracture of finger, Ankle flexion contracture, Kyphosco... |
ORPHA:1145 |
Thanatophoric Dysplasia |
|
Joint stiffness, Abnormal sacroiliac joint morphology, Kyphosis, Short thorax, Joint hyperflexibi... |
ORPHA:2655 |
Waardenburg Syndrome, Type 1 |
|
Spina bifida, Myelomeningocele, Supernumerary ribs, Supernumerary vertebrae, Sprengel anomaly |
OMIM:193500 |
1P36 Deletion Syndrome |
|
11 pairs of ribs, Camptodactyly of finger, Joint stiffness, Kyphosis, Rib fusion, Spinal canal st... |
ORPHA:1606 |
Femoral-Facial Syndrome |
|
Limited elbow movement, Missing ribs, Absent vertebra, Rib fusion, Hemivertebrae, Humeroradial sy... |
OMIM:134780 |
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
|
Death in infancy, Vertebral segmentation defect, Abnormal rib morphology, Spina bifida |
ORPHA:1120 |
Achondrogenesis Type 1A |
|
Multiple rib fractures, Recurrent fractures, Short neck, Abnormal enchondral ossification, Short ... |
ORPHA:93299 |
Greenberg Dysplasia |
|
Beaded ribs, Multiple prenatal fractures, Patchy variation in bone mineral density, Hypoplastic v... |
OMIM:215140 |
Anauxetic Dysplasia 1 |
|
Barrel-shaped chest, Joint laxity, Hip contracture, Lumbar hyperlordosis, Short neck, Limited elb... |
OMIM:607095 |
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects |
|
Pectus excavatum, Fused cervical vertebrae, Sprengel anomaly, Spina bifida occulta, Butterfly ver... |
OMIM:619227 |
Anauxetic Dysplasia 3 |
|
Thoracolumbar kyphoscoliosis, Pectus excavatum, Wide anterior fontanel, Genu valgum, Platyspondyl... |
OMIM:618853 |
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type |
|
Abnormally ossified vertebrae, Restricted large joint movement, Platyspondyly, Delayed ossificati... |
ORPHA:93346 |
Stickler Syndrome, Type I |
|
Arthropathy, Joint stiffness, Pectus excavatum, Kyphosis, Osteoarthritis, Arthritis, Platyspondyl... |
OMIM:108300 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Osteopenia, Multiple rib fractures, Fractured radius, Short neck, Beaded ribs, Multiple prenatal ... |
OMIM:616897 |
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Death in infancy, Platyspondyly, Thin ribs |
ORPHA:163966 |
Short Stature And Facioauriculothoracic Malformations |
|
Abnormal odontoid process morphology, Short neck, Pectus excavatum, Pectus carinatum, Cervical ribs |
OMIM:609654 |
Jeune Syndrome |
|
Abnormal clavicle morphology, Short thorax, Abnormal rib morphology, Abnormal sternum morphology,... |
ORPHA:474 |
Spondyloperipheral Dysplasia-Short Ulna Syndrome |
|
Ovoid vertebral bodies, Abnormality of the vertebral endplates, Limited elbow extension, Platyspo... |
ORPHA:1856 |
Myopathic Ehlers-Danlos Syndrome |
|
Kyphosis, Kyphoscoliosis, Scoliosis, Hyperlordosis |
ORPHA:536516 |
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy |
|
Anterior rib cupping, Kyphoscoliosis, Short neck, Hypoplasia of the odontoid process, Delayed ske... |
OMIM:300232 |
Stickler Syndrome Type 1 |
|
Abnormal vertebral epiphysis morphology, Platyspondyly, Osteoarthritis, Joint hyperflexibility |
ORPHA:90653 |
Episodic Ataxia Type 1 |
|
Kyphoscoliosis, Scoliosis |
ORPHA:37612 |
Osteogenesis Imperfecta, Type Viii |
|
Barrel-shaped chest, Osteopenia, Joint laxity, Recurrent fractures, Multiple prenatal fractures, ... |
OMIM:610915 |
Koolen-De Vries Syndrome |
|
Vertebral fusion, Pectus excavatum, Kyphosis, Hip dislocation, Joint hyperflexibility, Vertebral ... |
ORPHA:96169 |
Cerebral Autosomal Recessive Arteriopathy-Subcortical Infarcts-Leukoencephalopathy |
|
Back pain, Cervical spondylosis, Kyphoscoliosis |
ORPHA:199354 |
Mucopolysaccharidosis, Type Vii |
|
Anterior beaking of lower thoracic vertebrae, Spatulate ribs, Short neck, Pectus excavatum, Hypop... |
OMIM:253220 |
Hypertrophic Neuropathy Of Dejerine-Sottas |
|
Kyphoscoliosis, Scoliosis |
OMIM:145900 |
Dysosteosclerosis |
|
Osteopenia, Sclerosis of hand bone, Sclerotic scapulae, Delayed closure of the anterior fontanell... |
OMIM:224300 |
Rhizomelic Dysplasia, Ain-Naz Type |
|
Platyspondyly, Limitation of joint mobility |
OMIM:619598 |
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome |
|
Platyspondyly, Osteoporosis |
ORPHA:71267 |
Pallister-Hall Syndrome |
|
Radial head subluxation, Rib fusion, Hemivertebrae, Hip dislocation, Neonatal death |
OMIM:146510 |
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2 |
|
Increased vertebral height, Abnormal vertebral morphology, Kyphoscoliosis, Hyperlordosis |
OMIM:616817 |
Charcot-Marie-Tooth Disease, Type 4A |
|
Kyphoscoliosis |
OMIM:214400 |
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome |
|
Lumbar hyperlordosis, Thoracolumbar scoliosis, Kyphoscoliosis, Lumbar kyphosis in infancy, Thorac... |
ORPHA:3041 |
Cole-Carpenter Syndrome |
|
Recurrent fractures, Kyphosis, Abnormal rib morphology, Abnormal form of the vertebral bodies, Jo... |
ORPHA:2050 |
Spondylo-Ocular Syndrome |
|
Abnormal intervertebral disk morphology, Short neck, Osteoporosis, Joint hyperflexibility, Platys... |
ORPHA:85194 |
Central Core Disease |
|
Kyphoscoliosis |
ORPHA:597 |
Richieri Costa-Da Silva Syndrome |
|
Kyphoscoliosis, Short neck, Vertebral wedging, Decreased anterioposterior diameter of lumbar vert... |
ORPHA:3101 |
10Q22.3Q23.3 Microduplication Syndrome |
|
Abnormal clavicle morphology, Abnormal rib morphology |
ORPHA:276422 |
Otopalatodigital Syndrome Type 2 |
|
Encephalocele, Increased bone mineral density, Tarsal synostosis, Camptodactyly of finger, Elbow ... |
ORPHA:90652 |
Robinow Syndrome |
|
Fused thoracic vertebrae, Kyphoscoliosis, Missing ribs, Rib fusion, Hemivertebrae, Scoliosis, Umb... |
ORPHA:97360 |
Wolf-Hirschhorn Syndrome |
|
Rib segmentation abnormalities, Sacral dimple, Kyphosis, Abnormal thorax morphology, Delayed skel... |
ORPHA:280 |
Basilar Impression, Primary |
|
Kyphoscoliosis, Short neck |
OMIM:109500 |
Spondyloepimetaphyseal Dysplasia, Aggrecan Type |
|
Barrel-shaped chest, Joint laxity, Lumbar hyperlordosis, Short neck, Platyspondyly |
OMIM:612813 |
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 |
Slc39A13-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Osteopenia, Platyspondyly, Flexion contracture |
ORPHA:157965 |
3M Syndrome |
|
Scapular winging, Congenital hip dislocation, Short neck, Hyperlordosis, Increased vertebral heig... |
ORPHA:2616 |
Platyspondylic Dysplasia, Torrance Type |
|
Hypoplastic scapulae, Short thorax, Abnormal carpal morphology, Platyspondyly, Narrow chest, Genu... |
ORPHA:85166 |
Fibrodysplasia Ossificans Progressiva |
|
Small cervical vertebral bodies, Progressive cervical vertebral spine fusion, Ectopic ossificatio... |
OMIM:135100 |
Rahman Syndrome |
|
Kyphoscoliosis |
OMIM:617537 |
Spinal Arteriovenous Metameric Syndrome |
|
Abnormality of the vertebral column, Kyphoscoliosis |
ORPHA:53721 |
Chst3-Related Skeletal Dysplasia |
|
Kyphoscoliosis, Scoliosis, Intervertebral space narrowing, Abnormal form of the vertebral bodies |
ORPHA:263463 |
Acromesomelic Dysplasia 4 |
|
Thoracic scoliosis, Lumbar hyperlordosis, Accelerated skeletal maturation, Thoracic platyspondyly... |
OMIM:619636 |
Melnick-Needles Syndrome |
|
Delayed cranial suture closure, Short thorax, Abnormal rib morphology, Hip dislocation, Osteolyti... |
ORPHA:2484 |
Metaphyseal Chondrodysplasia, Schmid Type |
|
Lumbar hyperlordosis, Distal tibial bowing, Genu valgum, Irregular vertebral endplates, Platyspon... |
OMIM:156500 |
Desbuquois Dysplasia 1 |
|
Joint dislocation, Joint laxity, Phalangeal dislocation, Hyperlordosis, Short neck, Kyphosis, Ost... |
OMIM:251450 |
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus |
|
Barrel-shaped chest, Hyperlordosis, Hypoplasia of the odontoid process, Irregular carpal bones, O... |
OMIM:226980 |
Uruguay Faciocardiomusculoskeletal Syndrome |
|
Kyphosis, Kyphoscoliosis, Scoliosis |
OMIM:300280 |
Thoracic Outlet Syndrome |
|
Abnormal rib morphology |
ORPHA:97330 |
Achondrogenesis, Type Ia |
|
Barrel-shaped chest, Hypoplastic scapulae, Hypoplastic sacrum, Beaded ribs, Short neck, Abnormal ... |
OMIM:200600 |
Spinocerebellar Ataxia, Autosomal Recessive 20 |
|
Kyphoscoliosis, Scoliosis |
OMIM:616354 |
Arthrogryposis, Distal, Type 3 |
|
Lumbar hyperlordosis, Thoracolumbar scoliosis, Kyphoscoliosis, Short neck, Scoliosis |
OMIM:114300 |
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome |
|
Kyphoscoliosis |
OMIM:612079 |
Baller-Gerold Syndrome |
|
Bicoronal synostosis, Limited elbow movement, Sagittal craniosynostosis, Craniosynostosis, Wide a... |
OMIM:218600 |
Chromosome 1P36 Deletion Syndrome, Distal |
|
11 pairs of ribs, Camptodactyly of finger, Delayed closure of the anterior fontanelle, Wide anter... |
OMIM:607872 |
Leukodystrophy, Hypomyelinating, 3 |
|
Kyphoscoliosis |
OMIM:260600 |
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome |
|
Kyphoscoliosis, Scoliosis |
ORPHA:391307 |
Autosomal Recessive Spastic Paraplegia Type 23 |
|
Kyphoscoliosis |
ORPHA:101003 |
Joubert Syndrome 18 |
|
Kyphoscoliosis |
OMIM:614815 |
Thrombocytopenia-Absent Radius Syndrome |
|
Aplasia/Hypoplasia of the patella, Hip dislocation, Fused cervical vertebrae, Cervical ribs, Pate... |
ORPHA:3320 |
Combined Oxidative Phosphorylation Deficiency 47 |
|
Platyspondyly, Short neck |
OMIM:618958 |
Mucopolysaccharidosis, Type Iiib |
|
Thickened ribs, Ovoid thoracolumbar vertebrae, Dense calvaria, Joint stiffness |
OMIM:252920 |
Rhizomelic Dysplasia, Patterson-Lowry Type |
|
Platyspondyly |
OMIM:601438 |
Cardiospondylocarpofacial Syndrome |
|
Joint laxity, Tarsal synostosis, Delayed skeletal maturation, Rib fusion, Fused cervical vertebra... |
OMIM:157800 |
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Kyphoscoliosis |
ORPHA:3077 |
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3 |
|
Irregular vertebral endplates, Platyspondyly, Kyphoscoliosis |
OMIM:612350 |
Calvarial Doughnut Lesions With Bone Fragility |
|
Osteopenia, Recurrent fractures, Osteoporosis, Platyspondyly, Scoliosis |
OMIM:126550 |
Czech Dysplasia |
|
Flexion contracture, Limitation of joint mobility, Irregular vertebral endplates, Platyspondyly, ... |
OMIM:609162 |
Short-Rib Thoracic Dysplasia 18 With Polydactyly |
|
Missing ribs, Vertebral wedging, Platyspondyly, Decreased calvarial ossification, Short ribs, Tho... |
OMIM:617866 |
Lymphangiectasia, Intestinal |
|
Stillbirth, Prominent floating ribs |
OMIM:152800 |
Craniodiaphyseal Dysplasia, Autosomal Dominant |
|
Thickened ribs, Craniofacial osteosclerosis, Diaphyseal sclerosis, Cortical sclerosis |
OMIM:122860 |
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities |
|
Death in infancy, Kyphoscoliosis, Pectus excavatum, Platyspondyly, Delayed ossification of carpal... |
OMIM:617425 |
Spondylometaphyseal Dysplasia, Algerian Type |
|
Lumbar hyperlordosis, Anterior rib cupping, Kyphoscoliosis, Genu valgum, Platyspondyly, Carpal bo... |
OMIM:184253 |
Mucopolysaccharidosis, Type Iiic |
|
Thickened ribs, Kyphoscoliosis, Joint stiffness, Ovoid thoracolumbar vertebrae, Beaking of verteb... |
OMIM:252930 |
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Sclerotic vertebral body, Kyphosis, Increased skull ossification, Craniofacial osteosclerosis, Di... |
OMIM:618476 |
Coffin-Siris Syndrome 6 |
|
Kyphoscoliosis |
OMIM:617808 |
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type |
|
Wormian bones, Wide anterior fontanel, Platyspondyly |
OMIM:601356 |
Brachytelephalangic Chondrodysplasia Punctata |
|
Stippling of the epiphyses of the distal phalanges of the hand, Calcaneal epiphyseal stippling, C... |
ORPHA:79345 |
Desbuquois Dysplasia 2 |
|
Joint laxity, Lumbar hyperlordosis, Short neck, Pectus excavatum, Radial head subluxation, Hip di... |
OMIM:615777 |
Geroderma Osteodysplasticum |
|
Osteopenia, Hyperextensibility of the finger joints, Recurrent fractures, Kyphoscoliosis, Vertebr... |
OMIM:231070 |
Stapes Ankylosis With Broad Thumbs And Toes |
|
Fused cervical vertebrae, Proximal/middle symphalangism of 5th finger |
OMIM:184460 |
Zttk Syndrome |
|
Craniosynostosis, Kyphosis, Flexion contracture, Rib fusion, Hemivertebrae, Cervical ribs, Scolio... |
OMIM:617140 |
Bent Bone Dysplasia Syndrome 2 |
|
Osteopenia, Short neck, Thin ribs, Coronal cleft vertebrae, Platyspondyly, Decreased calvarial os... |
OMIM:620076 |
Koolen-De Vries Syndrome |
|
Vertebral fusion, Prominent metopic ridge, Sacral dimple, Pectus excavatum, Kyphosis, Hip disloca... |
OMIM:610443 |
Atelosteogenesis Type I |
|
Joint dislocation, Abnormal ossification involving the femoral head and neck, Coronal cleft verte... |
ORPHA:1190 |
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly |
|
Joint dislocation, Thoracolumbar scoliosis, Ovoid vertebral bodies, Hyperlordosis, Horizontal rib... |
OMIM:618019 |
Developmental And Epileptic Encephalopathy 41 |
|
Kyphoscoliosis |
OMIM:617105 |
Spondyloperipheral Dysplasia |
|
Barrel-shaped chest, Ovoid vertebral bodies, Short neck, Kyphosis, Flat acetabular roof, Pectus c... |
OMIM:271700 |
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome |
|
Kyphosis, Abnormal rib morphology, Short neck, Pectus carinatum |
ORPHA:3082 |
Intellectual Developmental Disorder, X-Linked, Syndromic 13 |
|
Kyphoscoliosis, Scoliosis, Short neck |
OMIM:300055 |
Intellectual Developmental Disorder, Autosomal Dominant 52 |
|
Scapular winging, Lumbar hyperlordosis, Pectus carinatum, Lumbar scoliosis, Cervical C2/C3 verteb... |
OMIM:617796 |
Congenital Pseudoarthrosis Of The Clavicle |
|
Congenital pseudoarthrosis of the clavicle, Osteoarthritis, Cervical ribs |
ORPHA:66630 |
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome |
|
Abnormally ossified vertebrae, Abnormal rib morphology |
ORPHA:3035 |
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2 |
|
Osteopenia, Joint laxity, Kyphoscoliosis, Pectus excavatum, Hip dislocation, Advanced ossificatio... |
OMIM:615349 |
Achondroplasia |
|
Death in infancy, Lumbar hyperlordosis, Limited hip extension, Generalized joint laxity, Lumbar k... |
OMIM:100800 |
Sillence Syndrome |
|
Back pain, Flat acetabular roof, Platyspondyly, Scoliosis, Camptodactyly, Abnormal vertebral morp... |
ORPHA:3168 |
Cat-Eye Syndrome |
|
Abnormal rib morphology |
ORPHA:195 |
Dystonia-Deafness Syndrome 1 |
|
Kyphoscoliosis |
OMIM:607371 |
Faciodigitogenital Syndrome, Autosomal Recessive |
|
Vertebral fusion, Down-sloping shoulders, Pectus excavatum, Hyperextensible hand joints, Abnormal... |
OMIM:227330 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh |
|
Kyphoscoliosis, Scoliosis |
OMIM:619574 |
Congenital Cataracts, Facial Dysmorphism, And Neuropathy |
|
Kyphoscoliosis |
OMIM:604168 |
Prune Belly Syndrome |
|
Congenital hip dislocation, Pectus excavatum, Abnormal rib morphology, Vertebral segmentation def... |
ORPHA:2970 |
Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Occipital encephalocele, Anisospondyly, Neonatal death, Pterygium, Thoracic hypoplasia |
OMIM:224410 |
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome |
|
Hyperlordosis, Delayed skeletal maturation, Limitation of joint mobility, Abnormal rib morphology... |
ORPHA:3068 |
Cerebrooculofacioskeletal Syndrome 2 |
|
Kyphoscoliosis |
OMIM:610756 |
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome |
|
Joint hyperflexibility, Decreased calvarial ossification, Abnormal rib morphology, Recurrent frac... |
ORPHA:2772 |
Idiopathic Juvenile Osteoporosis |
|
Kyphosis, Vertebral compression fracture |
ORPHA:85193 |
Axial Mesodermal Dysplasia Spectrum |
|
Abnormality of the knee, Short neck, Missing ribs, Abnormal rib morphology, Abnormal form of the ... |
ORPHA:1834 |
Mucopolysaccharidosis Type 6 |
|
Ovoid vertebral bodies, Joint stiffness, Short neck, Kyphosis, Genu valgum, Broad ribs |
ORPHA:583 |
Combined Oxidative Phosphorylation Deficiency 32 |
|
Kyphoscoliosis |
OMIM:617664 |
Cenani-Lenz Syndrome |
|
Elbow dislocation, Abnormal rib morphology, Hip dislocation, Abnormal form of the vertebral bodie... |
ORPHA:3258 |
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech |
|
Short neck, Pectus excavatum, Anterior scalloping of vertebral bodies, Delayed epiphyseal ossific... |
OMIM:611717 |
Wolf-Hirschhorn Syndrome |
|
Rib segmentation abnormalities, Vertebral fusion, Sacral dimple, Kyphosis, Delayed skeletal matur... |
OMIM:194190 |
Three M Syndrome 2 |
|
Scapular winging, Lumbar hyperlordosis, Short neck, Hyperlordosis, Delayed skeletal maturation, S... |
OMIM:612921 |
Cerebrooculofacioskeletal Syndrome 1 |
|
Kyphoscoliosis |
OMIM:214150 |
Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis |
|
Cervical C2/C3 vertebral fusion, Joint hypermobility, Camptodactyly |
OMIM:617333 |
Chromosome 8Q22.1 Duplication Syndrome |
|
Enlarged interphalangeal joints, Genu recurvatum, Interphalangeal joint contracture of finger, Jo... |
OMIM:151200 |
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome |
|
Kyphoscoliosis, Scoliosis, Short neck |
ORPHA:391408 |
Postaxial Acrofacial Dysostosis |
|
Pectus excavatum, Supernumerary vertebrae |
OMIM:263750 |
Gm1-Gangliosidosis, Type Ii |
|
Joint stiffness, Hypoplastic vertebral bodies, Platyspondyly, Scoliosis, Thoracolumbar kyphosis, ... |
OMIM:230600 |
Achondrogenesis, Type Ii |
|
Barrel-shaped chest, Absent vertebral body mineralization, Stillbirth, Short ribs, Horizontal ribs |
OMIM:200610 |
Infantile Liver Failure Syndrome 3 |
|
Abnormal acetabulum morphology, Hypoplastic vertebral bodies, Platyspondyly, Death in childhood, ... |
OMIM:618641 |
3Q29 Microdeletion Syndrome |
|
Pectus excavatum, Six lumbar vertebrae, Pectus carinatum |
ORPHA:65286 |
Monosomy 18P |
|
Kyphoscoliosis, Short neck |
ORPHA:1598 |
Microcephalic Primordial Dwarfism, Toriello Type |
|
Abnormal rib morphology |
ORPHA:2643 |
Acro-Renal-Mandibular Syndrome |
|
Abnormal clavicle morphology, Hypoplastic scapulae, Short neck, Kyphosis, Hemivertebrae, Hip disl... |
ORPHA:958 |
Mucolipidosis Iii Alpha/Beta |
|
Craniosynostosis, Irregular carpal bones, Short ribs, Scoliosis, Broad ribs, Shallow acetabular f... |
OMIM:252600 |
Spondylometaphyseal Dysplasia, Schmidt Type |
|
Kyphoscoliosis, Abnormality of the vertebral column, Platyspondyly, Scoliosis |
ORPHA:93316 |
Gm1-Gangliosidosis, Type I |
|
Death in infancy, Thickened ribs, Short neck, Joint stiffness, Kyphosis, Hypoplastic vertebral bo... |
OMIM:230500 |
Otospondylomegaepiphyseal Dysplasia |
|
Abnormally ossified vertebrae, Lumbar hyperlordosis, Enlarged joints, Short neck, Osteoarthritis,... |
ORPHA:1427 |
Carpenter Syndrome |
|
Kyphoscoliosis |
ORPHA:65759 |
Thanatophoric Dysplasia Type 1 |
|
Joint stiffness, Abnormal sacroiliac joint morphology, Kyphosis, Wide anterior fontanel, Platyspo... |
ORPHA:1860 |
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency |
|
Biconcave vertebral bodies, Kyphoscoliosis, Scoliosis |
OMIM:236200 |
Holzgreve Syndrome |
|
Abnormally ossified vertebrae, Abnormal rib morphology, Joint stiffness |
ORPHA:2167 |
Spastic Paraplegia 20, Autosomal Recessive |
|
Kyphoscoliosis |
OMIM:275900 |
Charcot-Marie-Tooth Disease, Type 4D |
|
Kyphoscoliosis |
OMIM:601455 |
Frontometaphyseal Dysplasia |
|
Limitation of movement at ankles, Interphalangeal joint contracture of finger, Limited elbow move... |
ORPHA:1826 |
Saul-Wilson Syndrome |
|
Pectus excavatum, Hypoplasia of the odontoid process, Wide anterior fontanel, Madelung deformity,... |
OMIM:618150 |
Dysosteosclerosis |
|
Increased bone mineral density, Recurrent fractures, Hypoplastic vertebral bodies, Irregular vert... |
ORPHA:1782 |
Hypophosphatasia |
|
Recurrent fractures, Abnormal rib morphology, Narrow chest, Craniosynostosis |
ORPHA:436 |
Alagille Syndrome |
|
Delayed skeletal maturation, Abnormal rib morphology, Abnormal form of the vertebral bodies, Vert... |
ORPHA:52 |
Lowry-Wood Syndrome |
|
Joint stiffness, Elbow dislocation, Delayed skeletal maturation, Platyspondyly, Patellar dislocat... |
ORPHA:1824 |
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Osteopenia, Short neck, Accelerated skeletal maturation, Multiple joint dislocation, Pectus carin... |
OMIM:245600 |
Primary Dystonia, Dyt4 Type |
|
Kyphoscoliosis |
ORPHA:98805 |
Osteoporosis-Pseudoglioma Syndrome |
|
Barrel-shaped chest, Osteopenia, Recurrent fractures, Kyphoscoliosis, Kyphosis, Osteoporosis, Inc... |
OMIM:259770 |
Cleidocranial Dysplasia |
|
Hypoplastic scapulae, Down-sloping shoulders, Recurrent fractures, Abnormal sacrum morphology, Ab... |
ORPHA:1452 |
Familial Osteodysplasia, Anderson Type |
|
Recurrent fractures, Aplastic clavicle, Missing ribs, Elbow dislocation, Kyphosis, Abnormal rib m... |
ORPHA:2769 |
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive |
|
Lumbar hyperlordosis, Enlarged joints, Flexion contracture, Premature osteoarthritis, Coronal cle... |
OMIM:215150 |
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome |
|
Osteopenia, Abnormality of the knee, Thoracolumbar scoliosis, Kyphoscoliosis, Hyperlordosis, Thor... |
ORPHA:457395 |
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Kyphoscoliosis |
ORPHA:75496 |
Allan-Herndon-Dudley Syndrome |
|
Kyphoscoliosis |
ORPHA:59 |
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans |
|
Lumbar hyperlordosis, Kyphosis, Wide anterior fontanel, Platyspondyly, Narrow chest, Neonatal death |
OMIM:616482 |
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness |
|
Joint laxity, Lumbar hyperlordosis, Cupped ribs, Flat glenoid fossa, Irregular chondrocostal junc... |
OMIM:250420 |
Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Abnormal scapula morphology, Accelerated skeletal maturation, Delayed skeletal maturation, Abnorm... |
ORPHA:93317 |
Arnold-Chiari Malformation Type I |
|
Stiff neck, Myelopathy, Fused cervical vertebrae, Scoliosis, Cervical C2/C3 vertebral fusion, Ant... |
ORPHA:268882 |
Spondyloepimetaphyseal Dysplasia, Sponastrime Type |
|
Osteopenia, Lumbar hyperlordosis, Kyphoscoliosis, Laryngotracheomalacia, Delayed skeletal maturat... |
OMIM:271510 |
Schwartz-Jampel Syndrome |
|
Short neck, Pectus carinatum, Wrist flexion contracture, Death in infancy, Abnormally ossified ve... |
ORPHA:800 |
Larsen-Like Syndrome |
|
Kyphoscoliosis |
OMIM:608545 |
Kyphomelic Dysplasia |
|
Anterior rib cupping, Lateral clavicle hook, Limitation of joint mobility, Undulate ribs, Flat ac... |
OMIM:211350 |
Occipital Horn Syndrome |
|
Joint laxity, Persistent open anterior fontanelle, Broad clavicles, Pectus excavatum, Kyphosis, C... |
OMIM:304150 |
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome |
|
Cervical C2/C3 vertebral fusion |
ORPHA:370010 |
Cerebrooculofacioskeletal Syndrome 4 |
|
Abnormality of the vertebral column, Kyphoscoliosis |
OMIM:610758 |
Opsismodysplasia |
|
Anterior rib cupping, Short neck, Hypoplasia of the odontoid process, Flat acetabular roof, Bell-... |
OMIM:258480 |
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type |
|
Short neck, Pectus carinatum, Knee flexion contracture, Abnormal calcification of the carpal bone... |
OMIM:271665 |
19P13.3 Microduplication Syndrome |
|
Kyphoscoliosis |
ORPHA:447980 |
Craniometadiaphyseal Dysplasia, Wormian Bone Type |
|
Osteopenia, Increased bone mineral density, Wide anterior fontanel, Vertebral arch anomaly, Wormi... |
ORPHA:85184 |
Mosaic Trisomy 8 |
|
Camptodactyly of finger, Short neck, Limitation of joint mobility, Abnormal rib morphology, Patel... |
ORPHA:96061 |
Campomelia, Cumming Type |
|
Abnormally ossified vertebrae, Death in infancy, Abnormal thorax morphology, Abnormal rib morphology |
ORPHA:1318 |
Contractural Arachnodactyly, Congenital |
|
Kyphoscoliosis, Congenital kyphoscoliosis, Scoliosis, Short neck |
OMIM:121050 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures |
|
Short neck, Delayed proximal femoral epiphyseal ossification, Flexion contracture, Irregular vert... |
OMIM:271640 |
Poland Syndrome |
|
Encephalocele, Aplasia/Hypoplasia of the sternum, Missing ribs, Short neck, Kyphosis, Abnormal ri... |
ORPHA:2911 |
13Q12.3 Microdeletion Syndrome |
|
Kyphoscoliosis |
ORPHA:412035 |
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly |
|
Kyphoscoliosis |
OMIM:620075 |
Hall-Riggs Syndrome |
|
Delayed skeletal maturation, Platyspondyly, Scoliosis, Joint stiffness |
ORPHA:2107 |
Simpson-Golabi-Behmel Syndrome |
|
Vertebral fusion, Death in infancy, Congenital hip dislocation, Camptodactyly of finger, Short ne... |
ORPHA:373 |
Tetrasomy 15Q26 |
|
Kyphoscoliosis |
OMIM:614846 |
Congenital Contractural Arachnodactyly |
|
Congenital kyphoscoliosis, Scoliosis |
ORPHA:115 |
Trisomy 20P |
|
Camptodactyly of finger, Spina bifida, Short neck, Kyphosis, Abnormal form of the vertebral bodie... |
ORPHA:261318 |
Vacterl/Vater Association |
|
Occipital encephalocele, Abnormal intervertebral disk morphology, Abnormal sacrum morphology, Abn... |
ORPHA:887 |
Craniometadiaphyseal Dysplasia |
|
Osteopenia, Cubitus valgus, Genu valgum, Sclerosis of skull base, Scoliosis, Wormian bones, Broad... |
OMIM:269300 |
Spondyloenchondrodysplasia With Immune Dysregulation |
|
Barrel-shaped chest, Lumbar hyperlordosis, Kyphoscoliosis, Increased intervertebral space, Irregu... |
OMIM:607944 |
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Osteopenia, Multiple joint contractures, Multiple joint dislocation, Pectus carinatum, Large join... |
ORPHA:536467 |
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type |
|
Osteopenia, Thoracolumbar scoliosis, Craniosynostosis, Short neck, Delayed skeletal maturation, P... |
OMIM:616723 |
Blomstrand Lethal Chondrodysplasia |
|
Increased bone mineral density, Aplastic clavicle, Accelerated skeletal maturation, Short thorax,... |
ORPHA:50945 |
Sifrim-Hitz-Weiss Syndrome |
|
Wormian bones, Fused cervical vertebrae, Short clavicles, Flat acetabular roof |
OMIM:617159 |
Crisponi/Cold-Induced Sweating Syndrome 1 |
|
Kyphoscoliosis, Short neck |
OMIM:272430 |
Renpenning Syndrome |
|
Pectus excavatum, Sprengel anomaly, Abnormal rib morphology, Joint stiffness |
ORPHA:3242 |
Shashi-Pena Syndrome |
|
Accelerated skeletal maturation, Kyphosis, Osteoporosis, Scoliosis, Cervical C2/C3 vertebral fusion |
OMIM:617190 |
Cartilage-Hair Hypoplasia |
|
Abnormally ossified vertebrae, Biconvex vertebral bodies, Sacral dimple, Flaring of lower rib cag... |
ORPHA:175 |
Arthrogryposis, Distal, Type 2A |
|
Kyphoscoliosis, Spina bifida occulta, Scoliosis, Short neck |
OMIM:193700 |
X-Linked Dominant Chondrodysplasia Punctata |
|
Neuropathic spinal arthropathy, Abnormally ossified vertebrae, Hypoplastic cervical vertebrae, Ky... |
ORPHA:35173 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Lumbar hyperlordosis, Kyphoscoliosis, Sagittal craniosynostosis, Rib fusion, Hemivertebrae, Hyper... |
ORPHA:500150 |
Chondrodysplasia Punctata 2, X-Linked Dominant |
|
Kyphoscoliosis, Short neck, Punctate vertebral calcifications, Hemivertebrae, Scoliosis |
OMIM:302960 |
Osteogenesis Imperfecta |
|
Osteopenia, Cervical kyphosis, Osteoarthritis, Flexion contracture, Bone pain, Abnormal form of t... |
ORPHA:666 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Aplasia/Hypoplasia of the ribs, Thoracic scoliosis, Cervical hemivertebrae, Spina bifida, Short n... |
ORPHA:508498 |
Gm1 Gangliosidosis Type 1 |
|
Spatulate ribs, Pectus carinatum, Hypoplastic vertebral bodies, Platyspondyly, Beaking of vertebr... |
ORPHA:79255 |
Phosphoribosylaminoimidazole Carboxylase Deficiency |
|
Neonatal death, Lumbar hemivertebrae, Short neck, Missing ribs |
OMIM:619859 |
Osteogenesis Imperfecta, Type Xvii |
|
Joint laxity, Recurrent fractures, Kyphoscoliosis, Osteoporosis, Hip dislocation, Reduced bone mi... |
OMIM:616507 |
Myhre Syndrome |
|
Vertebral fusion, Short neck, Joint stiffness, Limitation of joint mobility, Enlarged vertebral p... |
OMIM:139210 |
Ossification Anomalies-Psychomotor Developmental Delay Syndrome |
|
Abnormal thorax morphology, Abnormal form of the vertebral bodies, Thin ribs, Narrow chest, Abnor... |
ORPHA:73230 |
Emanuel Syndrome |
|
Sacral dimple, Kyphoscoliosis, Scoliosis |
ORPHA:96170 |
Mucopolysaccharidosis, Type Vi |
|
Lumbar hyperlordosis, Ovoid vertebral bodies, Kyphoscoliosis, Joint stiffness, Anterior wedging o... |
OMIM:253200 |
Schimke Immunoosseous Dysplasia |
|
Osteopenia, Lumbar hyperlordosis, Ovoid vertebral bodies, Short neck, Platyspondyly, Thoracic kyp... |
OMIM:242900 |
Galloway-Mowat Syndrome 7 |
|
Kyphoscoliosis |
OMIM:618348 |
Shprintzen-Goldberg Craniosynostosis Syndrome |
|
Osteopenia, Joint laxity, Genu recurvatum, Craniosynostosis, Lateral clavicle hook, Pectus excava... |
OMIM:182212 |
Osteogenesis Imperfecta, Type Vii |
|
Osteopenia, Multiple rib fractures, Wide cranial sutures, Death in infancy, Recurrent fractures, ... |
OMIM:610682 |
Atypical Progressive Supranuclear Palsy Syndrome |
|
Kyphoscoliosis |
ORPHA:99750 |
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
|
Kyphoscoliosis |
ORPHA:324410 |
Antley-Bixler Syndrome |
|
Recurrent fractures, Craniosynostosis, Joint stiffness, Camptodactyly of finger, Abnormal rib mor... |
ORPHA:83 |
Cartilage-Hair Hypoplasia |
|
Joint laxity, Lumbar hyperlordosis, Flaring of lower rib cage, Hypoplasia of the odontoid process... |
OMIM:250250 |
X-Linked Hypophosphatemia |
|
Craniosynostosis, Beaded ribs, Generalized osteosclerosis, Enlargement of the costochondral junct... |
ORPHA:89936 |
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Thoracic hypoplasia, Lateral clavicle hook, Short ribs, Narrow chest, Horizontal ribs |
OMIM:617895 |
Trisomy 13 |
|
Kyphosis, Abnormal rib morphology, Narrow chest, Scoliosis |
ORPHA:3378 |
Duane Retraction Syndrome |
|
Short neck, Spina bifida occulta, Abnormal form of the vertebral bodies, Camptodactyly, Abnormal ... |
ORPHA:233 |
Pyknoachondrogenesis |
|
Abnormal intramembranous ossification, Short thorax, Poorly ossified vertebrae, Enlarged thorax, ... |
ORPHA:3003 |
3Q27.3 Microdeletion Syndrome |
|
Kyphoscoliosis |
ORPHA:397695 |
Radio-Renal Syndrome |
|
Abnormality of the elbow, Abnormal rib morphology, Abnormal form of the vertebral bodies, Short neck |
ORPHA:3015 |
Cerebrocostomandibular Syndrome |
|
Death in infancy, Spina bifida, Tracheomalacia, Kyphosis, Myelomeningocele, Meningocele, Posterio... |
ORPHA:1393 |
Tetraamelia-Multiple Malformations Syndrome |
|
Abnormally ossified vertebrae, Abnormal rib morphology, Missing ribs |
ORPHA:3301 |
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Cupped ribs, Platyspondyly, Ovoid vertebral bodies, Scoliosis |
ORPHA:85167 |
Craniosynostosis, Herrmann-Opitz Type |
|
Abnormal rib morphology |
ORPHA:2145 |
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation |
|
Large placenta, Umbilical hernia, Thoracic hypoplasia, Coat hanger sign of ribs |
ORPHA:254534 |
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome |
|
Broad ribs, Abnormal sternum morphology, Abnormal rib morphology, Short ribs |
ORPHA:2519 |
Hurler Syndrome |
|
Abnormal clavicle morphology, Death in infancy, Camptodactyly of finger, Short neck, Limitation o... |
ORPHA:93473 |
Alpha-Mannosidosis, Infantile Form |
|
Osteopenia, Joint laxity, Thickened ribs, Craniosynostosis, Short neck, Pectus excavatum, Joint s... |
ORPHA:309282 |
Kenny-Caffey Syndrome, Type 1 |
|
Long clavicles, Delayed closure of the anterior fontanelle, Thin clavicles, Delayed skeletal matu... |
OMIM:244460 |
Sacral Agenesis With Vertebral Anomalies |
|
Absence of the sacrum, Vertebral clefting, Abnormal vertebral morphology |
OMIM:615709 |
Warburg Micro Syndrome 3 |
|
Kyphoscoliosis |
OMIM:614222 |
Musculocontractural Ehlers-Danlos Syndrome |
|
Cervical kyphosis, Kyphoscoliosis, Scoliosis, Abnormality of the cervical spine, Atlantoaxial dis... |
ORPHA:2953 |
Duane-Radial Ray Syndrome |
|
Fused cervical vertebrae, Shoulder dislocation, Spina bifida occulta, Scoliosis |
OMIM:607323 |
Autosomal Recessive Kenny-Caffey Syndrome |
|
Thin clavicles, Delayed skeletal maturation, Thin ribs, Decreased skull ossification, Calvarial o... |
ORPHA:93324 |
Intellectual Disability-Coarse Face-Macrocephaly-Cerebellar Hypotrophy Syndrome |
|
Neuropathic spinal arthropathy, Kyphoscoliosis |
ORPHA:397709 |
Fanconi Anemia, Complementation Group I |
|
Fused cervical vertebrae, Short neck |
OMIM:609053 |
Congenital Myopathy 22B, Severe Fetal |
|
Hip contracture, Scapular winging, Thoracic scoliosis, Limb joint contracture, Shoulder flexion c... |
OMIM:620369 |
Osteogenesis Imperfecta, Type Xx |
|
Vertebral compression fracture, Kyphoscoliosis |
OMIM:618644 |
Spinocerebellar Ataxia, Autosomal Recessive 31 |
|
Lumbar kyphoscoliosis |
OMIM:619422 |
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Lateral clavicle hook, Pectus carinatum, Platyspondyly, Thoracic dysplasia, Short ribs, Narrow ch... |
OMIM:263520 |
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Neonatal death, Posterior rib fusion, Butterfly vertebrae |
OMIM:265380 |
Osteogenesis Imperfecta, Type Iv |
|
Recurrent fractures, Biconcave flattened vertebrae, Kyphosis, Increased susceptibility to fractur... |
OMIM:166220 |
Spondylodysplastic Ehlers-Danlos Syndrome |
|
Osteopenia, Joint dislocation, Multiple joint contractures, Generalized joint laxity, Flexion con... |
ORPHA:536471 |
Meier-Gorlin Syndrome 1 |
|
Genu recurvatum, Lateral clavicle hook, Flat glenoid fossa, Flexion contracture, Hemivertebrae, P... |
OMIM:224690 |
Camptodactyly Syndrome, Guadalajara Type 3 |
|
Osteopenia, Short neck, Delayed skeletal maturation, Abnormal rib morphology, Spina bifida occulta |
ORPHA:488434 |
Chromosome 2P16.1-P15 Deletion Syndrome |
|
Kyphoscoliosis |
OMIM:612513 |
Ane Syndrome |
|
Kyphoscoliosis |
ORPHA:157954 |
Tatton-Brown-Rahman Syndrome |
|
Kyphoscoliosis |
ORPHA:404443 |
Monosomy 9Q22.3 |
|
Short neck, Pectus excavatum, Kyphosis, Accelerated skeletal maturation, Abnormal rib morphology,... |
ORPHA:77301 |
Acrootoocular Syndrome |
|
Kyphoscoliosis |
ORPHA:2980 |
Autosomal Recessive Spastic Paraplegia Type 77 |
|
Kyphoscoliosis |
ORPHA:466722 |
Aneurysm-Osteoarthritis Syndrome |
|
Joint laxity, Osteoarthritis of the small joints of the hand, Protrusio acetabuli, Camptodactyly ... |
ORPHA:284984 |
Bone Fragility With Contractures, Arterial Rupture, And Deafness |
|
Osteopenia, Contracture of the proximal interphalangeal joint of the 2nd finger, Elbow flexion co... |
OMIM:612394 |
Kagami-Ogata Syndrome |
|
Kyphoscoliosis |
OMIM:608149 |
Occipital Horn Syndrome |
|
Osteopenia, Down-sloping shoulders, Aplastic clavicle, Osteomalacia, Pectus excavatum, Kyphosis, ... |
ORPHA:198 |
Pallister-Hall Syndrome |
|
Radial head subluxation, Rib fusion, Hemivertebrae, Hip dislocation, Distal arthrogryposis, Umbil... |
ORPHA:672 |
Autosomal Dominant Popliteal Pterygium Syndrome |
|
Popliteal pterygium, Abnormal rib morphology, Scoliosis, Joint stiffness |
ORPHA:1300 |
Intellectual Developmental Disorder, Autosomal Recessive 78 |
|
Kyphoscoliosis |
OMIM:620237 |
Congenital Myasthenic Syndrome |
|
Neuropathic spinal arthropathy, Kyphoscoliosis, Spinal rigidity |
ORPHA:590 |
Presynaptic Congenital Myasthenic Syndromes |
|
Neuropathic spinal arthropathy, Kyphoscoliosis, Spinal rigidity |
ORPHA:98914 |
Cardiac-Valvular Ehlers-Danlos Syndrome |
|
Thoracolumbar scoliosis, Kyphoscoliosis |
ORPHA:230851 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type |
|
Vertebral compression fracture, Kyphoscoliosis, Scoliosis, Short neck |
OMIM:309583 |
Pontocerebellar Hypoplasia, Type 10 |
|
Kyphoscoliosis, Short neck |
OMIM:615803 |
Thrombocytopenia-Absent Radius Syndrome |
|
Death in infancy, Spina bifida, Lateral clavicle hook, Patellar aplasia, Hip dislocation, Abnorma... |
OMIM:274000 |
Spondyloenchondrodysplasia |
|
Kyphosis, Pectus carinatum, Arthritis, Platyspondyly, Juvenile rheumatoid arthritis, Lower limb pain |
ORPHA:1855 |
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Kyphosis, Kyphoscoliosis, Hemivertebrae, Scoliosis |
OMIM:301040 |
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation |
|
Thoracic scoliosis, Kyphoscoliosis |
ORPHA:300570 |
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1 |
|
Osteopenia, Joint dislocation, Joint laxity, Congenital hip dislocation, Protrusio acetabuli, Kyp... |
OMIM:225400 |
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development |
|
Arthrogryposis multiplex congenita, Decreased calvarial ossification, Craniosynostosis, Thin ribs |
OMIM:618265 |
Nestor-Guillermo Progeria Syndrome |
|
Wide cranial sutures, Limited elbow movement, Delayed closure of the anterior fontanelle, Joint s... |
OMIM:614008 |
Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
11 pairs of ribs, Short neck, Cupped ribs, Horizontal inferior border of scapula, Delayed epiphys... |
OMIM:250220 |
Schimmelpenning-Feuerstein-Mims Syndrome |
|
Kyphoscoliosis |
OMIM:163200 |
You-Hoover-Fong Syndrome |
|
Kyphoscoliosis |
OMIM:616954 |
Thakker-Donnai Syndrome |
|
Cervical C2/C3 vertebral fusion, Hemivertebrae, Short neck |
ORPHA:1780 |
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Sacral dimple, Lumbar hyperlordosis, Limited elbow movement, Craniosynostosis, Increased interver... |
ORPHA:508533 |
Apert Syndrome |
|
Sagittal craniosynostosis, Limited elbow movement, Craniosynostosis, Delayed epiphyseal ossificat... |
OMIM:101200 |
Loeys-Dietz Syndrome 6 |
|
Hip osteoarthritis, Knee osteoarthritis, Scoliosis, Intervertebral disc degeneration |
OMIM:619656 |
Spondyloocular Syndrome |
|
Osteopenia, Pectus carinatum, Shield chest, Platyspondyly, Vertebral compression fracture |
OMIM:605822 |
Gm1 Gangliosidosis |
|
Camptodactyly of finger, Hyperlordosis, Joint stiffness, Kyphosis, Abnormal form of the vertebral... |
ORPHA:354 |
Multiple Pterygium-Malignant Hyperthermia Syndrome |
|
Prominent metopic ridge, Camptodactyly of finger, Pectus excavatum, Kyphosis, Abnormal rib morpho... |
ORPHA:2215 |
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion |
|
Joint laxity, Pectus excavatum, Large placenta, Flexion contracture, Prominent sternum, Coat hang... |
ORPHA:254528 |
Charcot-Marie-Tooth Disease Type 4B2 |
|
Kyphoscoliosis, Scoliosis |
ORPHA:99956 |
Otopalatodigital Syndrome, Type Ii |
|
Congenital hip dislocation, Wormian bones, Elbow contracture, Spina bifida, Short neck, Pectus ex... |
OMIM:304120 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Joint laxity, Hyperextensibility of the finger joints, Broad clavicles, Delayed skeletal maturati... |
OMIM:151050 |
Autosomal Recessive Spastic Paraplegia Type 9B |
|
Kyphoscoliosis |
ORPHA:447760 |
Spondyloepimetaphyseal Dysplasia, X-Linked |
|
Joint laxity, Lumbar hyperlordosis, Hypoplasia of the odontoid process, Kyphosis, Limited elbow e... |
OMIM:300106 |
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome |
|
Osteopenia, Pectus excavatum, Delayed skeletal maturation, Thin ribs, Lumbar hemivertebrae, Abnor... |
ORPHA:2463 |
Kagami-Ogata Syndrome |
|
Kyphoscoliosis, Short neck, Large placenta, Limitation of joint mobility, Bell-shaped thorax, Coa... |
ORPHA:254519 |
Aspergillosis |
|
Abnormality of the vertebral column, Abnormal rib morphology |
ORPHA:1163 |
X-Linked Myotubular Myopathy-Abnormal Genitalia Syndrome |
|
Joint hypermobility, Thin ribs |
ORPHA:456328 |
Acro-Renal-Ocular Syndrome |
|
Vertebral fusion, Vertebral segmentation defect |
ORPHA:959 |
Frontometaphyseal Dysplasia 2 |
|
Hip contracture, Congenital hip dislocation, Elbow contracture, Pectus excavatum, Fused cervical ... |
OMIM:617137 |
Acrorenal-Mandibular Syndrome |
|
Hypoplastic scapulae, Kyphoscoliosis, Missing ribs, Hemivertebrae, Hip dislocation, Elbow flexion... |
OMIM:200980 |
Pseudoleprechaunism Syndrome, Patterson Type |
|
Abnormal odontoid process morphology, Kyphoscoliosis |
ORPHA:2976 |
Non-Acquired Combined Pituitary Hormone Deficiency-Sensorineural Hearing Loss-Spine Abnormalities Syndrome |
|
Thoracolumbar kyphoscoliosis, Short neck |
ORPHA:231720 |
Severe Congenital Nemaline Myopathy |
|
Multiple prenatal fractures, Abnormal thorax morphology, Flexion contracture, Thin ribs, Arthrogr... |
ORPHA:171430 |
Lethal Congenital Contracture Syndrome 5 |
|
Congenital contracture, Flexion contracture, Thin ribs |
OMIM:615368 |
Sclerosteosis 1 |
|
Broad ribs, Sclerotic vertebral endplates, Sclerotic scapulae, Broad clavicles |
OMIM:269500 |
Lethal Congenital Contracture Syndrome 10 |
|
Thoracic scoliosis, Stiff neck, Short neck, Narrow chest, Broad ribs |
OMIM:617022 |
Mevalonic Aciduria |
|
Kyphoscoliosis |
OMIM:610377 |
Robinow Syndrome, Autosomal Dominant 2 |
|
Sacral dimple, Kyphoscoliosis |
OMIM:616331 |
Classical-Like Ehlers-Danlos Syndrome Type 2 |
|
Kyphosis, Thoracic scoliosis, Sacral dimple, Kyphoscoliosis |
ORPHA:536532 |
Myotubular Myopathy With Abnormal Genital Development |
|
Neonatal death, Joint hypermobility, Thin ribs |
OMIM:300219 |
Acrocapitofemoral Dysplasia |
|
Lumbar hyperlordosis, Ovoid vertebral bodies, Pectus excavatum, Cupped ribs, Pectus carinatum, De... |
OMIM:607778 |
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Flexion contracture, Narrow chest, Abnormality of the wrist, Abnormal vertebral morphology, Elbow... |
ORPHA:95699 |
Congenital Disorder Of Glycosylation With Defective Fucosylation 1 |
|
Kyphoscoliosis |
OMIM:618005 |
Schimke Immuno-Osseous Dysplasia |
|
Lumbar hyperlordosis, Ovoid vertebral bodies, Short neck, Platyspondyly, Shallow acetabular fossae |
ORPHA:1830 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Horizontal inferior border of scapula, Platyspondyly, Anterior rib cupping |
OMIM:102700 |
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures |
|
Flexion contracture, Thin ribs |
OMIM:614833 |
Marshall-Smith Syndrome |
|
Thoracic scoliosis, Kyphoscoliosis, Kyphosis, Hypoplasia of the odontoid process, Thoracic kyphos... |
OMIM:602535 |
Fibrous Dysplasia Of Bone |
|
Abnormal clavicle morphology, Osteomalacia, Bone pain, Abnormal rib morphology, Rickets, Osteolys... |
ORPHA:249 |
Mucopolysaccharidosis, Type Iiid |
|
Thoracic scoliosis, Thickened ribs, Pilonidal sinus, Short neck, Joint stiffness, Achilles tendon... |
OMIM:252940 |
Monosomy 18Q |
|
Atlantoaxial abnormality, Kyphoscoliosis |
ORPHA:1600 |
Multicentric Osteolysis, Nodulosis, And Arthropathy |
|
Vertebral compression fracture, C1-C2 subluxation, Kyphoscoliosis |
OMIM:259600 |
Arthrogryposis Multiplex Congenita 5 |
|
Kyphoscoliosis, Scoliosis, Short neck |
OMIM:618947 |
Osteogenesis Imperfecta, Type I |
|
Osteopenia, Recurrent fractures, Biconcave flattened vertebrae, Increased susceptibility to fract... |
OMIM:166200 |
Loeys-Dietz Syndrome 5 |
|
Spondylolisthesis, Kyphoscoliosis, Cervical spine instability |
OMIM:615582 |
Hajdu-Cheney Syndrome |
|
Kyphoscoliosis, Short neck, Tall lumbar vertebral bodies, Biconcave vertebral bodies, Cervical in... |
OMIM:102500 |
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Thoracic hypoplasia, Lateral clavicle hook, Short ribs, Scoliosis, Acetabular spurs, Horizontal ribs |
OMIM:613091 |
Split Cord Malformation |
|
Back pain, Abnormal thoracic spine morphology, Low back pain, Kyphoscoliosis, Hyperlordosis, Hemi... |
ORPHA:573278 |
Myhre Syndrome |
|
Platyspondyly, Abnormal rib morphology, Joint stiffness |
ORPHA:2588 |
Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Bell-shaped thorax, Horizontal ribs |
OMIM:614857 |
Ellis-Van Creveld Syndrome |
|
Capitate-hamate fusion, Pectus carinatum, Genu valgum, Short ribs, Narrow chest, Acetabular spurs... |
OMIM:225500 |
Premature Aging Syndrome, Penttinen Type |
|
Recurrent fractures, Hyperextensibility of the knee, Delayed skeletal maturation, Osteoporosis, T... |
OMIM:601812 |
Cerebrocostomandibular Syndrome |
|
Rib gap, 10 pairs of ribs, 11 pairs of ribs, Congenital hip dislocation, Anomalous rib insertion ... |
OMIM:117650 |
Van Den Ende-Gupta Syndrome |
|
Sacral dimple, Hypoplastic scapulae, Glenoid fossa hypoplasia, Craniosynostosis, Lateral clavicle... |
OMIM:600920 |
Craniotubular Dysplasia, Ikegawa Type |
|
Increased intervertebral space, Broad ribs, Platyspondyly, Sclerosis of skull base |
OMIM:619727 |
Apert Syndrome |
|
Vertebral segmentation defect, Cervical C5/C6 vertebrae fusion |
ORPHA:87 |
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations |
|
Lumbar hyperlordosis, Kyphoscoliosis, Short neck, Kyphosis, Irregular vertebral endplates, Corona... |
OMIM:143095 |
Frank-Ter Haar Syndrome |
|
Kyphosis, Prominent coccyx, Anterior concavity of thoracic vertebrae, Kyphoscoliosis |
OMIM:249420 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Long clavicles, Contracture of the distal interphalangeal joint of the fingers, Cleft vertebral a... |
ORPHA:83617 |
Fetal Akinesia Deformation Sequence 1 |
|
Hip contracture, Elbow contracture, Camptodactyly of finger, Short neck, Thin ribs, Congenital co... |
OMIM:208150 |
Oculocerebrocutaneous Syndrome |
|
Abnormal rib morphology, Missing ribs |
ORPHA:1647 |
Arthrogryposis And Ectodermal Dysplasia |
|
Kyphoscoliosis |
OMIM:601701 |
Weill-Marchesani Syndrome 1 |
|
Lumbar hyperlordosis, Joint stiffness, Spinal canal stenosis, Scoliosis, Broad ribs |
OMIM:277600 |
Hyperparathyroidism, Transient Neonatal |
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Osteopenia, Wide cranial sutures, Recurrent fractures, Undulate ribs, Thin ribs, Short ribs, Narr... |
OMIM:618188 |
Osteoglophonic Dysplasia |
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Osteopenia, Hypoplastic scapulae, Camptodactyly of finger, Craniosynostosis, Short neck, Pectus e... |
OMIM:166250 |
Vater/Vacterl Association |
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Occipital encephalocele, Spina bifida, Abnormal rib morphology, Abnormal sternum morphology, Radi... |
OMIM:192350 |
Xylt1-Cdg |
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Joint dislocation, Joint laxity, Accelerated skeletal maturation, Short clavicles, Broad ribs |
ORPHA:370930 |
De Barsy Syndrome |
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Kyphoscoliosis |
ORPHA:2962 |
Stickler Syndrome |
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Joint dislocation, Protrusio acetabuli, Kyphosis, Osteoarthritis, Bone pain, Spinal canal stenosi... |
ORPHA:828 |
Congenital Myopathy 13 |
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Kyphoscoliosis, Scoliosis |
OMIM:255995 |
Campomelic Dysplasia |
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Thoracic scoliosis, Cervical kyphosis, Delayed epiphyseal ossification, Patellar hypoplasia, Pect... |
OMIM:114290 |
Loeys-Dietz Syndrome 3 |
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Joint laxity, Protrusio acetabuli, Craniosynostosis, Osteoarthritis, Knee osteoarthritis, Pectus ... |
OMIM:613795 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
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11 pairs of ribs, Hip contracture, Prominent metopic ridge, Long clavicles, Death in infancy, Sho... |
OMIM:210710 |
Short-Rib Thoracic Dysplasia 12 |
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Hypoplastic scapulae, Short neck, Short thorax, Anencephaly, Thoracic dysplasia, Short ribs, Narr... |
OMIM:269860 |
Stuve-Wiedemann Syndrome 1 |
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Enlarged joints, Ovoid vertebral bodies, Short neck, Osteoporosis, Elbow flexion contracture, Kne... |
OMIM:601559 |
Trisomy 1Q |
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Short thorax, Abnormal rib morphology |
ORPHA:261344 |
Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
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Barrel-shaped chest, Pilonidal sinus, Aplasia/Hypoplasia involving the carpal bones, Broad clavic... |
OMIM:276820 |
Kyphoscoliotic Ehlers-Danlos Syndrome |
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Kyphoscoliosis, Congenital kyphoscoliosis, Atlantoaxial instability, Scoliosis |
ORPHA:536545 |
Odontochondrodysplasia 2 With Hearing Loss And Diabetes |
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Osteopenia, Platyspondyly, Large knee, Scoliosis |
OMIM:619269 |
Oculocerebrorenal Syndrome Of Lowe |
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Death in infancy, Osteomalacia, Recurrent fractures, Joint stiffness, Kyphosis, Abnormal rib morp... |
ORPHA:534 |
Incontinentia Pigmenti |
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Hemivertebrae, Kyphoscoliosis |
OMIM:308300 |
Heterotaxy, Visceral, 1, X-Linked |
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Absence of the sacrum, Myelomeningocele, Congenital hip dislocation, Block vertebrae |
OMIM:306955 |
Mucopolysaccharidosis Type 3 |
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Abnormal clavicle morphology, Joint stiffness, Avascular necrosis of the capital femoral epiphysi... |
ORPHA:581 |
Craniofacial Microsomia 1 |
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Occipital encephalocele, Block vertebrae, Hemivertebrae, Genu valgum, Branchial anomaly, Cervical... |
OMIM:164210 |
Neurofibroma |
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Spinal canal stenosis, Kyphoscoliosis |
ORPHA:252183 |
X-Linked Intellectual Disability, Snyder Type |
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Kyphosis, Kyphoscoliosis |
ORPHA:3063 |
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2 |
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Atlantoaxial instability, Kyphoscoliosis |
OMIM:614557 |
Simpson-Golabi-Behmel Syndrome, Type 1 |
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Pectus excavatum, Pectus carinatum, Vertebral segmentation defect, Short sternum, Cervical ribs, ... |
OMIM:312870 |
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome |
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Kyphosis, Lumbar hyperlordosis, Kyphoscoliosis |
ORPHA:457359 |
Chops Syndrome |
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Tracheomalacia, Cervical C2/C3 vertebral fusion |
OMIM:616368 |
Chromosome 16P13.3 Duplication Syndrome |
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Sacral dimple, Short neck, Pectus excavatum, Hip dislocation, Cervical C5/C6 vertebrae fusion, Ca... |
OMIM:613458 |
Telo2-Related Intellectual Disability-Neurodevelopmental Disorder |
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Kyphoscoliosis |
ORPHA:488642 |
Hallermann-Streiff Syndrome |
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Spina bifida, Hyperlordosis, Pectus excavatum, Thin ribs, Abnormal rib cage morphology, Decreased... |
OMIM:234100 |
Osteopathia Striata With Cranial Sclerosis |
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Tracheomalacia, Delayed closure of the anterior fontanelle, Pectus excavatum, Craniofacial osteos... |
OMIM:300373 |
Short-Rib Thoracic Dysplasia 20 With Polydactyly |
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Short neck, Lateral clavicle hook, Wide anterior fontanel, Long thorax, Narrow chest, Short ribs,... |
OMIM:617925 |
Congenital Fiber-Type Disproportion Myopathy |
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Kyphoscoliosis, Scoliosis, Hyperlordosis |
ORPHA:2020 |
Spondyloepimetaphyseal Dysplasia, Genevieve Type |
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Joint laxity, Short neck, Advanced ossification of carpal bones, Flat acetabular roof, Irregular ... |
OMIM:610442 |
Autosomal Dominant Centronuclear Myopathy |
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Thin ribs |
ORPHA:169189 |
Marshall Syndrome |
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Platyspondyly, Knee osteoarthritis |
OMIM:154780 |
Sponastrime Dysplasia |
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Joint laxity, Lumbar hyperlordosis, Kyphoscoliosis, Avascular necrosis of the capital femoral epi... |
ORPHA:93357 |
Leopard Syndrome 1 |
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Spina bifida occulta, Kyphoscoliosis, Short neck |
OMIM:151100 |
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
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Short neck, Flexion contracture, Hemivertebrae, Narrow chest, Interphalangeal joint contracture o... |
ORPHA:96334 |
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
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Encephalocele, Unicoronal synostosis, Flat acetabular roof, Bell-shaped thorax, Stillbirth, Short... |
OMIM:616300 |
Abetalipoproteinemia |
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Kyphoscoliosis |
ORPHA:14 |
Rothmund-Thomson Syndrome, Type 2 |
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Kyphoscoliosis |
OMIM:268400 |
Melnick-Needles Syndrome |
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Anterior concavity of thoracic vertebrae, Kyphoscoliosis |
OMIM:309350 |
Weill-Marchesani Syndrome 2 |
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Lumbar hyperlordosis, Joint stiffness, Delayed skeletal maturation, Elbow flexion contracture, Sp... |
OMIM:608328 |
Distal Deletion 12Q |
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Kyphoscoliosis, Short neck |
ORPHA:96149 |
Pseudo-Torch Syndrome 2 |
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Thin ribs |
OMIM:617397 |
Atypical Werner Syndrome |
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Sclerosis of hand bone, Increased bone mineral density, Abnormal thorax morphology, Limitation of... |
ORPHA:79474 |
Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
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Kyphosis, Kyphoscoliosis, Scoliosis |
OMIM:300967 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type Iii |
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Kyphoscoliosis |
OMIM:210730 |
Aspartylglucosaminuria |
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Joint laxity, Kyphosis, Delayed skeletal maturation, Platyspondyly, Spondylolysis, Scoliosis, Pat... |
OMIM:208400 |
Gracile Bone Dysplasia |
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Thin ribs |
OMIM:602361 |
Monosomy 9P |
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Short neck, Limitation of joint mobility, Abnormal rib morphology, Abnormality of the vertebral c... |
ORPHA:261112 |
Lowe Oculocerebrorenal Syndrome |
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Osteomalacia, Camptodactyly of finger, Wrist swelling, Kyphosis, Rickets, Hip dislocation, Genu v... |
OMIM:309000 |
Multiple Endocrine Neoplasia Type 2 |
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Kyphoscoliosis, Hyperlordosis |
ORPHA:653 |
Schinzel-Giedion Syndrome |
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Sacrococcygeal teratoma, Kyphoscoliosis, Scoliosis, Short neck |
ORPHA:798 |
Pagod Syndrome |
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Encephalocele, Abnormal clavicle morphology, Spina bifida, Meningocele, Abnormal rib morphology |
ORPHA:991 |
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria |
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Enlargement of the ankles, Multiple joint contractures, Short neck, Abnormal joint morphology, Sh... |
ORPHA:99646 |
Marfan Syndrome |
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Kyphoscoliosis, Scoliosis, Spondylolisthesis |
OMIM:154700 |
Eiken Syndrome |
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Delayed epiphyseal ossification, Flat acetabular roof, Delayed ossification of carpal bones, Dela... |
OMIM:600002 |
Trisomy 18 |
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Camptodactyly of finger, Spina bifida, Delayed skeletal maturation, Abnormal rib morphology, Anen... |
ORPHA:3380 |
Fontaine Progeroid Syndrome |
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Death in infancy, Craniosynostosis, Wide anterior fontanel, Delayed skeletal maturation, Platyspo... |
OMIM:612289 |
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
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Lateral clavicle hook, Thoracic dysplasia, Short ribs, Narrow chest, Horizontal ribs |
OMIM:208500 |
Ulbright-Hodes Syndrome |
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Short neck, Humeroradial synostosis, Abnormal rib morphology, Ovoid thoracolumbar vertebrae, Thin... |
ORPHA:3404 |
Dextrocardia |
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Abnormal rib morphology |
ORPHA:1666 |
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
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Wormian bones, Tracheomalacia, Cervical C2/C3 vertebral fusion, Abnormal vertebral morphology, Hi... |
ORPHA:444077 |
Cutis Laxa, Autosomal Recessive, Type Iid |
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Kyphoscoliosis |
OMIM:617403 |
Schinzel-Giedion Midface Retraction Syndrome |
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Sacrococcygeal teratoma, Long clavicles, Increased density of long bones, Short neck, Metopic sut... |
OMIM:269150 |
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies |
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Hyperlordosis, Hip dislocation, Genu valgum, Broad ribs, Limited elbow extension |
OMIM:301066 |
Genitourinary And/Or Brain Malformation Syndrome |
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Kyphoscoliosis |
OMIM:618820 |
Ear-Patella-Short Stature Syndrome |
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Camptodactyly of finger, Aplastic clavicle, Craniosynostosis, Elbow dislocation, Delayed skeletal... |
ORPHA:2554 |
Restrictive Dermopathy |
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Osteopenia, Thoracic kyphoscoliosis, Aplasia/Hypoplasia of the clavicles, Multiple joint contract... |
ORPHA:1662 |
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion |
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Kyphoscoliosis, Scoliosis, Hyperlordosis |
ORPHA:363700 |
Short-Rib Thoracic Dysplasia 15 With Polydactyly |
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Aplasia of the epiglottis, Short ribs, Narrow chest, Short clavicles, Horizontal ribs |
OMIM:617088 |
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
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Craniosynostosis, Short neck, Pectus excavatum, Delayed skeletal maturation, Hip dislocation, Und... |
OMIM:609945 |
Cutis Laxa, Autosomal Recessive, Type Iic |
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Kyphoscoliosis |
OMIM:617402 |
Alagille Syndrome 1 |
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Abnormal rib morphology, Hemivertebrae, Butterfly vertebral arch |
OMIM:118450 |
Smith-Lemli-Opitz Syndrome |
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Short neck, Kyphosis, Abnormal rib morphology, Hip dislocation, Abnormal form of the vertebral bo... |
ORPHA:818 |
Elsahy-Waters Syndrome |
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Pectus excavatum, Cervical C2/C3 vertebral fusion |
OMIM:211380 |
Digeorge Syndrome |
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Pilonidal sinus, Patellar dislocation, Scoliosis, Umbilical hernia, Intervertebral disc degeneration |
OMIM:188400 |
Generalized Arterial Calcification Of Infancy |
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Abnormality of the knee, Osteomalacia, Stippled calcification of the shoulder, Abnormal calcifica... |
ORPHA:51608 |
Mucopolysaccharidosis Type 2, Severe Form |
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Thickened ribs, Camptodactyly of finger, Flexion contracture, Limitation of joint mobility, Spina... |
ORPHA:217085 |
Autosomal Recessive Malignant Osteopetrosis |
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Recurrent fractures, Craniosynostosis, Bone pain, Abnormal rib morphology, Reduced bone mineral d... |
ORPHA:667 |
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome |
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Kyphoscoliosis |
ORPHA:466791 |
Wiedemann-Rautenstrauch Syndrome |
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Irregular sclerotic endplates, Kyphoscoliosis, Hypoplastic vertebral bodies, Cervical vertebral d... |
ORPHA:3455 |
Fryns Syndrome |
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Short neck, Thin ribs, Stillbirth, Camptodactyly, Broad ribs, Joint contracture of the hand, Thor... |
OMIM:229850 |
Mucopolysaccharidosis Type 2, Attenuated Form |
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Thickened ribs, Camptodactyly of finger, Flexion contracture, Limitation of joint mobility, Spina... |
ORPHA:217093 |
Floating-Harbor Syndrome |
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Kyphoscoliosis, Short neck |
OMIM:136140 |
Noonan Syndrome 1 |
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Kyphoscoliosis, Short neck |
OMIM:163950 |
Hereditary Acrokeratotic Poikiloderma |
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Joint hyperflexibility, Abnormal rib morphology, Camptodactyly of finger |
ORPHA:2907 |
Restrictive Dermopathy 1 |
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Kyphoscoliosis |
OMIM:275210 |
Cranioectodermal Dysplasia 2 |
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Joint laxity, Craniosynostosis, Short neck, Pectus excavatum, Short ribs, Narrow chest, Metopic s... |
OMIM:613610 |
Floating-Harbor Syndrome |
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Kyphoscoliosis, Short neck |
ORPHA:2044 |
Mandibuloacral Dysplasia Progeroid Syndrome |
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Osteopenia, Joint stiffness, Pectus excavatum, Flexion contracture, Osteolytic defects of the pha... |
OMIM:619127 |
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
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Camptodactyly of finger, Kyphosis, Delayed skeletal maturation, Platyspondyly, Abnormality of the... |
ORPHA:2273 |
Wrinkly Skin Syndrome |
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Kyphoscoliosis |
ORPHA:2834 |
Charge Syndrome |
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Abnormality of bone mineral density, Abnormal rib morphology, Hemivertebrae, Scoliosis |
ORPHA:138 |
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1 |
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Kyphoscoliosis, Short neck |
OMIM:309580 |
Coccidioidomycosis |
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Osteomyelitis, Osteolysis, Arthritis, Abnormality of the vertebral column, Broad ribs |
ORPHA:228123 |
Williams-Beuren Syndrome |
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Kyphoscoliosis |
OMIM:194050 |
Osteopetrosis, Autosomal Recessive 7 |
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Multiple rib fractures |
OMIM:612301 |
Kindler Epidermolysis Bullosa |
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Flexion contracture, Abnormal rib morphology, Camptodactyly of finger |
ORPHA:2908 |
Charge Syndrome |
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Down-sloping shoulders, Radial head subluxation, Abnormal rib morphology, Hemivertebrae, Scoliosi... |
OMIM:214800 |
Wiedemann-Rautenstrauch Syndrome |
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Delayed closure of the anterior fontanelle, Short neck, Flexion contracture, Thin ribs, Narrow ch... |
OMIM:264090 |
Osteopetrosis With Renal Tubular Acidosis |
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Pectus excavatum, Osteopetrosis, Prominent floating ribs, Recurrent fractures |
ORPHA:2785 |
Townes-Brocks Syndrome |
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Abnormal rib morphology, Abnormal vertebral morphology |
ORPHA:857 |
Microphthalmia, Syndromic 1 |
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Kyphoscoliosis, Lumbar hyperlordosis, Scoliosis |
OMIM:309800 |
Pallister-Killian Syndrome |
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Sacral dimple, Kyphoscoliosis, Short neck |
OMIM:601803 |
Ring Chromosome 7 Syndrome |
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Lumbar kyphoscoliosis |
ORPHA:1449 |
Pmm2-Cdg |
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Platyspondyly, Kyphoscoliosis |
ORPHA:79318 |