| Scheuermann Disease |
|
Kyphosis, Osteochondrosis, Morbus Scheuermann |
OMIM:181440 |
| Intellectual Developmental Disorder, X-Linked 82 |
|
Kyphosis, Scoliosis |
OMIM:300518 |
| Scoliosis, Isolated, Susceptibility To, 1 |
|
Scoliosis |
OMIM:181800 |
| Dwarfism With Tall Vertebrae |
|
Increased vertebral height |
OMIM:126950 |
| Cervical Vertebral Dysplasia |
|
Cervical vertebral dysplasia, Cervical vertebral facet hypoplasia, Anterior atlanto-occipital dis... |
OMIM:118005 |
| Osteomesopyknosis |
|
Kyphosis, Sclerotic vertebral body, Scoliosis, Abnormal form of the vertebral bodies |
ORPHA:2777 |
| Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type |
|
Lumbar hyperlordosis, Genu valgum, Irregular vertebral endplates, Platyspondyly, Thoracic kyphosi... |
OMIM:609223 |
| Parastremmatic Dwarfism |
|
Kyphosis, Genu valgum, Scoliosis, Short neck |
OMIM:168400 |
| Spondylocamptodactyly Syndrome |
|
Platyspondyly, Camptodactyly of finger, Scoliosis |
ORPHA:3180 |
| Acromesomelic Dysplasia, Maroteaux Type |
|
Ovoid vertebral bodies, Hyperlordosis, Kyphosis, Abnormal form of the vertebral bodies, Vertebral... |
ORPHA:40 |
| Primary Basilar Invagination |
|
Abnormality of the cervical spine, Abnormal vertebral morphology, Short neck |
ORPHA:2285 |
| Horizontal Gaze Palsy With Progressive Scoliosis |
|
Kyphosis, Scoliosis, Short neck |
ORPHA:2744 |
| 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 |
| Spondyloepiphyseal Dysplasia, Maroteaux Type |
|
Platyspondyly, Genu valgum |
OMIM:184095 |
| Brachyolmia Type 1, Hobaek Type |
|
Back pain, Sclerotic foci of metaphyses of the elbow, Short neck, Kyphosis, Flat acetabular roof,... |
OMIM:271530 |
| Osteoarthritis With Mild Chondrodysplasia |
|
Heberden's node, Knee osteoarthritis, Schmorl's node, Irregular vertebral endplates, Platyspondyl... |
OMIM:604864 |
| Spondyloepiphyseal Dysplasia Tarda With Mental Retardation |
|
Platyspondyly, Anterior beaking of lumbar vertebrae |
OMIM:271620 |
| Spondyloepiphyseal Dysplasia With Atlantoaxial Instability |
|
Os odontoideum, Lumbar hyperlordosis, Spondylolisthesis at L5-S1, Atlantoaxial instability, Ankle... |
OMIM:600561 |
| Brachyolmia Type 2 |
|
Platyspondyly |
OMIM:613678 |
| Pelvic Hypoplasia With Lower-Limb Arthrogryposis |
|
Hip contracture, Lumbar hyperlordosis, Scoliosis, Knee flexion contracture |
OMIM:602484 |
| Spondyloepiphyseal Dysplasia Tarda, Kohn Type |
|
Abnormality of the knee, Platyspondyly, Abnormal vertebral morphology, Abnormality of the ankle |
ORPHA:163665 |
| Spondylocostal Dysostosis 3, Autosomal Recessive |
|
Contracture of the proximal interphalangeal joint of the 2nd finger, Kyphosis, Hypoplasia of the ... |
OMIM:609813 |
| Galactosialidosis |
|
Abnormality of the vertebral column, Abnormal vertebral morphology |
ORPHA:351 |
| Familial Anetoderma |
|
Lumbar hyperlordosis |
ORPHA:228277 |
| Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset |
|
Spinal rigidity, Hyperlordosis, Kyphosis, Short neck, Scoliosis |
OMIM:300718 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 3 |
|
Hyperlordosis |
OMIM:607088 |
| Myosclerosis, Autosomal Recessive |
|
Lumbar hyperlordosis, Thoracolumbar scoliosis, Spinal rigidity |
OMIM:255600 |
| Brachyolmia, Maroteaux Type |
|
Platyspondyly, Scoliosis, Abnormal form of the vertebral bodies |
ORPHA:93302 |
| Second Metatarsal-Metacarpal Syndrome |
|
Platyspondyly, Synostosis of carpals/tarsals |
OMIM:269630 |
| Spondyloepiphyseal Dysplasia, Kimberley Type |
|
Platyspondyly, Genu varum, Genu valgum |
OMIM:608361 |
| Ankylosing Vertebral Hyperostosis With Tylosis |
|
Vertebral hyperostosis |
OMIM:106400 |
| Acrodysplasia Scoliosis |
|
Vertebral segmentation defect, Spina bifida occulta, Scoliosis |
ORPHA:2956 |
| Crisponi/Cold-Induced Sweating Syndrome 2 |
|
Cubitus valgus, Lumbar hyperlordosis, Limited elbow extension, Thoracolumbar scoliosis |
OMIM:610313 |
| Spastic Paraplegia 87, Autosomal Recessive |
|
Lumbar hyperlordosis |
OMIM:619966 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 8 |
|
Hip contracture, Hyperlordosis, Kyphosis, Elbow flexion contracture, Knee flexion contracture, Sc... |
OMIM:600175 |
| Spastic Paraplegia 18B, Autosomal Recessive |
|
Ankle clonus, Kyphosis, Scoliosis |
OMIM:611225 |
| Alpha-Dystroglycan-Related Limb-Girdle Muscular Dystrophy R16 |
|
Lumbar hyperlordosis, Ankle flexion contracture |
ORPHA:280333 |
| Absence Deformity Of Leg-Cataract Syndrome |
|
Scoliosis, Hyperlordosis |
ORPHA:2310 |
| Spondylosis, Cervical |
|
Osteoarthritis, Cervical spondylosis, Spondylolysis, Spina bifida occulta, Spondylolisthesis |
OMIM:184300 |
| Morquio Syndrome C |
|
Platyspondyly |
OMIM:252300 |
| Spinal Muscular Atrophy, Infantile, James Type |
|
Hip contracture, Lumbar hyperlordosis, Scoliosis |
OMIM:619042 |
| Pseudodiastrophic Dysplasia |
|
Elbow dislocation, Platyspondyly, Phalangeal dislocation, Scoliosis |
ORPHA:85174 |
| Epiphyseal Dysplasia, Multiple, 7 |
|
Advanced ossification of carpal bones, Flat acetabular roof, Vertebral wedging, Platyspondyly, Ge... |
OMIM:617719 |
| Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies |
|
Kyphosis |
OMIM:618453 |
| Spondyloepiphyseal Dysplasia, Stanescu Type |
|
Beaking of vertebral bodies, Vertebral wedging, Platyspondyly, Kyphoscoliosis |
OMIM:616583 |
| Winchester Syndrome |
|
Arthropathy, Kyphosis, Carpal osteolysis |
OMIM:277950 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 4 |
|
Joint contracture of the hand, Scoliosis, Hyperlordosis |
OMIM:611067 |
| Rigid Spine Syndrome |
|
Hip contracture, Hyperlordosis, Spinal rigidity, Elbow flexion contracture, Scoliosis |
ORPHA:97244 |
| Epiphyseal Dysplasia, Multiple, With Miniepiphyses |
|
Lumbar hyperlordosis, Genu varum, Patellar hypoplasia, Irregular patellae |
OMIM:609325 |
| Dysspondyloenchondromatosis |
|
Joint dislocation, Enlarged joints, Kyphoscoliosis, Osteoarthritis, Genu valgum, Multiple enchond... |
ORPHA:85198 |
| Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant |
|
Lumbar hyperlordosis, Kyphoscoliosis, Short neck, Hypoplasia of the odontoid process, Irregular v... |
OMIM:184100 |
| Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability |
|
Kyphosis, Spinal rigidity, Scoliosis, Hyperlordosis |
OMIM:617404 |
| Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis |
|
Thoracolumbar kyphosis, Kyphoscoliosis |
OMIM:236660 |
| Fibrosis Of Extraocular Muscles, Congenital, 3C |
|
Kyphosis |
OMIM:609384 |
| Isolated Glycerol Kinase Deficiency |
|
Scoliosis, Hyperlordosis |
ORPHA:408 |
| Hypochondroplasia |
|
Hyperlordosis, Osteoarthritis, Abnormality of the elbow, Spinal canal stenosis, Abnormal form of ... |
ORPHA:429 |
| Spinal Muscular Atrophy, Ryukyuan Type |
|
Kyphoscoliosis |
OMIM:271200 |
| Symbrachydactyly Of Hands And Feet |
|
Vertebral segmentation defect, Abnormality of the humeroulnar joint, Scoliosis |
ORPHA:1570 |
| Congenital Myopathy 16 |
|
Lumbar hyperlordosis, Scoliosis, Spinal rigidity |
OMIM:618524 |
| Ichthyosis--Cheek--Eyebrow Syndrome |
|
Kyphoscoliosis |
OMIM:146720 |
| Striatonigral Degeneration, Childhood-Onset |
|
Ankle clonus, Lumbar hyperlordosis |
OMIM:617054 |
| Brachyolmia Type 1, Toledo Type |
|
Back pain, Kyphoscoliosis, Short neck, Irregular vertebral endplates, Squared-off platyspondyly, ... |
OMIM:271630 |
| Bethlem Myopathy 2 |
|
Kyphosis, Hip dislocation, Scoliosis |
OMIM:616471 |
| Spondyloepimetaphyseal Dysplasia, Handigodu Type |
|
Abnormality of the knee, Hip contracture, Lumbar hyperlordosis, Abnormal intervertebral disk morp... |
ORPHA:99642 |
| Bicd2-Related Autosomal Dominant Childhood-Onset Proximal Spinal Muscular Atrophy |
|
Hyperlordosis |
ORPHA:363454 |
| Diastrophic Dysplasia |
|
Hip contracture, Lumbar hyperlordosis, Cervical kyphosis, Kyphoscoliosis, Costal cartilage calcif... |
OMIM:222600 |
| Metaphyseal Chondrodysplasia, Spahr Type |
|
Genu varum, Scoliosis, Hyperlordosis |
ORPHA:2501 |
| Masa Syndrome |
|
Kyphosis, Hyperlordosis |
OMIM:303350 |
| X-Linked Intellectual Disability, Stocco Dos Santos Type |
|
Kyphosis, Congenital bilateral hip dislocation |
ORPHA:85288 |
| Alpha-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R3 |
|
Thoracic scoliosis, Hyperlordosis |
ORPHA:62 |
| Intellectual Developmental Disorder, X-Linked 19 |
|
Scoliosis, Kyphoscoliosis |
OMIM:300844 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 9 |
|
Lumbar hyperlordosis, Ankle flexion contracture |
OMIM:613818 |
| Myasthenic Syndrome, Congenital, 25, Presynaptic |
|
Kyphosis, Scoliosis, Spinal rigidity |
OMIM:618323 |
| Cleft Palate-Short Stature-Vertebral Anomalies Syndrome |
|
Abnormal vertebral morphology, Short neck |
ORPHA:2015 |
| Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B |
|
Kyphosis, Scoliosis |
OMIM:617087 |
| Vertebral Hypoplasia With Lumbar Kyphosis |
|
Vertebral hypoplasia, Lumbar kyphosis |
OMIM:192900 |
| Bruck Syndrome 1 |
|
Hip contracture, Protrusio acetabuli, Ankle flexion contracture, Kyphosis, Elbow flexion contract... |
OMIM:259450 |
| Spondyloepimetaphyseal Dysplasia, Di Rocco Type |
|
Irregular acetabular roof, Platyspondyly, Delayed ossification of carpal bones, Genu varum |
OMIM:617974 |
| Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type |
|
Platyspondyly, Scoliosis, Genu varum |
OMIM:618728 |
| Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes |
|
Irregular vertebral endplates, Platyspondyly, Lumbar scoliosis, Kyphoscoliosis |
OMIM:612847 |
| Spondyloepimetaphyseal Dysplasia, Matrilin-3 Type |
|
Limited elbow extension, Lumbar hyperlordosis, Enlarged joints |
ORPHA:156728 |
| Spondylocostal Dysostosis 2, Autosomal Recessive |
|
Vertebral segmentation defect, Vertebral clefting, Hemivertebrae, Short neck |
OMIM:608681 |
| Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome |
|
Sacral dimple, Tarsal synostosis, Abnormal form of the vertebral bodies, Posterior fusion of lumb... |
ORPHA:2064 |
| X-Linked Charcot-Marie-Tooth Disease Type 1 |
|
Kyphosis, Scoliosis |
ORPHA:101075 |
| Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive |
|
Hip osteoarthritis, Platyspondyly, Osteoarthritis |
OMIM:271600 |
| Multiple Epiphyseal Dysplasia Type 5 |
|
Back pain, Osteoarthritis of the small joints of the hand, Abnormal acetabulum morphology, Multip... |
ORPHA:93311 |
| Progressive Pseudorheumatoid Arthropathy Of Childhood |
|
Irregularity of vertebral bodies, Abnormality of the knee, Enlarged interphalangeal joints, Thora... |
ORPHA:1159 |
| Spinal Dysplasia, Anhalt Type |
|
Osteoarthritis of the small joints of the hand, Thoracolumbar scoliosis, Absent spinous processes... |
OMIM:601344 |
| Nemaline Myopathy 7 |
|
Lumbar hyperlordosis, Genu recurvatum, Kyphoscoliosis, Knee flexion contracture |
OMIM:610687 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 17 |
|
Lumbar hyperlordosis |
OMIM:613723 |
| Maternal Uniparental Disomy Of Chromosome 9 |
|
Kyphoscoliosis, Short neck, Patellar dislocation, Osteochondrosis, Abnormal vertebral morphology,... |
ORPHA:96183 |
| Gm1-Gangliosidosis, Type Iii |
|
Kyphosis, Platyspondyly, Scoliosis, Anterior beaking of lumbar vertebrae, Hypoplastic acetabulae |
OMIM:230650 |
| Anauxetic Dysplasia 2 |
|
Ovoid vertebral bodies, Thoracolumbar kyphoscoliosis, Hyperlordosis, Short neck, Posterior wedgin... |
OMIM:617396 |
| Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
|
Kyphosis, Platyspondyly |
ORPHA:2786 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type |
|
Kyphosis, Hip dislocation, Scoliosis |
OMIM:300434 |
| Idiopathic Juvenile Osteoporosis |
|
Kyphosis, Vertebral compression fracture |
ORPHA:85193 |
| Calpain-3-Related Limb-Girdle Muscular Dystrophy R1 |
|
Ankle flexion contracture, Spinal rigidity, Hyperlordosis, Elbow flexion contracture, Congenital ... |
ORPHA:267 |
| Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures |
|
Kyphosis, Lumbar hyperlordosis, Hip dislocation, Scoliosis |
OMIM:616756 |
| X-Linked Charcot-Marie-Tooth Disease Type 4 |
|
Kyphosis, Scoliosis |
ORPHA:101078 |
| Myasthenic Syndrome, Congenital, 16 |
|
Hyperlordosis |
OMIM:614198 |
| Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers |
|
Elbow flexion contracture, Thoracic scoliosis, Lumbar hyperlordosis, Thoracic kyphosis |
ORPHA:206546 |
| Hip Dysplasia, Beukes Type |
|
Kyphosis, Osteoarthritis, Scoliosis |
ORPHA:2114 |
| Autosomal Dominant Spondylocostal Dysostosis |
|
Hyperlordosis, Short neck, Abnormal sacrum morphology, Vertebral segmentation defect, Scoliosis, ... |
ORPHA:1797 |
| Heart Defects-Limb Shortening Syndrome |
|
Kyphosis, Abnormal form of the vertebral bodies |
ORPHA:1354 |
| Atelosteogenesis, Type Ii |
|
Lumbar hyperlordosis, Cervical kyphosis, Short neck, Increased intervertebral space, Lacunar halo... |
OMIM:256050 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 1 |
|
Lumbar hyperlordosis, Spinal rigidity |
OMIM:609308 |
| Acrocapitofemoral Dysplasia |
|
Genu varum, Ovoid vertebral bodies, Scoliosis, Hyperlordosis |
ORPHA:63446 |
| Parkinson-Dementia Syndrome |
|
Kyphoscoliosis |
OMIM:260540 |
| Spondyloepiphyseal Dysplasia, Kimberley Type |
|
Platyspondyly, Osteoarthritis |
ORPHA:93283 |
| Spondylometaphyseal Dysplasia, X-Linked |
|
Hip contracture, Enlarged joints, Thoracolumbar scoliosis, Kyphosis, Knee flexion contracture, Pl... |
OMIM:313420 |
| Pseudodiastrophic Dysplasia |
|
Lumbar hyperlordosis, Phalangeal dislocation, Short neck, Elbow dislocation, Hypoplasia of the od... |
OMIM:264180 |
| Spondylocostal Dysostosis 1, Autosomal Recessive |
|
Back pain, Vertebral fusion, Block vertebrae, Abnormal odontoid process morphology, Kyphoscoliosi... |
OMIM:277300 |
| Mucolipidosis Type Iii |
|
Abnormal form of the vertebral bodies, Hyperlordosis |
ORPHA:577 |
| Cervical Hypertrichosis With Underlying Kyphoscoliosis |
|
Kyphoscoliosis |
OMIM:117850 |
| Hereditary Sensory And Autonomic Neuropathy Type 2 |
|
Wormian bones, Abnormality of the knee, Abnormality of the ankle, Hyperlordosis |
ORPHA:970 |
| Epiphyseal Dysplasia, Multiple, With Severe Proximal Femoral Dysplasia |
|
Irregularity of vertebral bodies, Platyspondyly, Genu valgum |
OMIM:609324 |
| Sprengel Deformity |
|
Cervical segmentation defect, Spina bifida occulta, Hemivertebrae, Scoliosis |
OMIM:184400 |
| Spondyloepiphyseal Dysplasia Tarda, X-Linked |
|
Back pain, Lumbar hyperlordosis, Short neck, Kyphosis, Platyspondyly, Hump-shaped mound of bone i... |
OMIM:313400 |
| Short Stature And Advanced Bone Age, With Or Without Early-Onset Osteoarthritis And/Or Osteochondritis Dissecans |
|
Hip osteoarthritis, Premature osteoarthritis, Lumbar hyperlordosis, Osteochondritis dissecans |
OMIM:165800 |
| Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy |
|
Kyphoscoliosis |
OMIM:619099 |
| Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome |
|
Cubitus valgus, Kyphosis |
ORPHA:1875 |
| Acropectorovertebral Dysplasia |
|
Capitate-hamate fusion, Spina bifida occulta at S1, Spina bifida occulta at L5, Abnormal vertebra... |
OMIM:102510 |
| Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant |
|
Hip contracture, Hyperlordosis, Kyphosis, Knee flexion contracture, Scoliosis |
OMIM:615290 |
| Steel Syndrome |
|
Lumbar hyperlordosis, Hip dislocation, Scoliosis, Carpal synostosis, Limited elbow extension, Dis... |
OMIM:615155 |
| Neuropathy, Congenital, With Arthrogryposis Multiplex |
|
Hyperlordosis |
OMIM:162370 |
| Alkaptonuria |
|
Arthropathy, Vertebral fusion, Low back pain, Kyphosis, Arthritis, Limitation of knee mobility, I... |
OMIM:203500 |
| Pseudoachondroplasia |
|
Lumbar hyperlordosis, Hypoplasia of the odontoid process, Osteoarthritis, Limited elbow extension... |
ORPHA:750 |
| Dna2-Related Mitochondrial Dna Deletion Syndrome |
|
Hyperlordosis |
ORPHA:352470 |
| Kuskokwim Syndrome |
|
Scoliosis, Abnormal form of the vertebral bodies, Aplasia/Hypoplasia of the patella |
ORPHA:1149 |
| Hypochondroplasia |
|
Widened interpedicular distance, Lumbar hyperlordosis, Limited elbow extension, Genu varum |
OMIM:146000 |
| Brachydactylous Dwarfism, Mseleni Type |
|
Protrusio acetabuli, Knee osteoarthritis, Platyspondyly, Joint subluxation, Abnormality of the an... |
ORPHA:2619 |
| Intellectual Disability-Developmental Delay-Contractures Syndrome |
|
Kyphosis, Scoliosis |
ORPHA:3454 |
| Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Lumbar hyperlordosis, Hypoplastic sacrum, Capitate-hamate fusion, Osteoarthritis, Genu valgum, Pl... |
OMIM:271650 |
| Weismann-Netter Syndrome |
|
Kyphosis, Horizontal sacrum, Scoliosis |
OMIM:112350 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4 |
|
Back pain, Hyperlordosis |
OMIM:618129 |
| Mucolipidosis Iii Gamma |
|
Hyperlordosis, Short neck, Kyphosis, Genu valgum, Scoliosis |
OMIM:252605 |
| Facioscapulohumeral Dystrophy |
|
Hyperlordosis |
ORPHA:269 |
| Ehlers-Danlos Syndrome, Arthrochalasia Type, 1 |
|
Contracture of the proximal interphalangeal joint of the 2nd finger, Delayed closure of the anter... |
OMIM:130060 |
| Spondyloepiphyseal Dysplasia, Kondo-Fu Type |
|
Kyphosis, Delayed ossification of carpal bones |
OMIM:618392 |
| Osteogenesis Imperfecta, Type Vi |
|
Beaking of vertebral bodies, Vertebral compression fracture, Protrusio acetabuli, Biconcave verte... |
OMIM:613982 |
| Spondylometaphyseal Dysplasia, A4 Type |
|
Platyspondyly |
ORPHA:168555 |
| Orofaciodigital Syndrome Xi |
|
Hypoplasia of the odontoid process, Kyphoscoliosis |
OMIM:612913 |
| Brachyolmia Type 3 |
|
Kyphosis, Platyspondyly, Scoliosis, Short neck |
OMIM:113500 |
| Aphalangia, Partial, With Syndactyly And Duplication Of Metatarsal Iv |
|
Kyphoscoliosis |
OMIM:600384 |
| Osteogenesis Imperfecta, Type Ix |
|
Wormian bones, Kyphosis, Platyspondyly, Scoliosis |
OMIM:259440 |
| Intellectual Developmental Disorder With Muscle Tone Abnormalities And Distal Skeletal Defects |
|
Kyphosis |
OMIM:620007 |
| Sillence Syndrome |
|
Back pain, Flat acetabular roof, Platyspondyly, Scoliosis, Abnormal vertebral morphology, Interve... |
ORPHA:3168 |
| Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis |
|
Hip contracture, Kyphoscoliosis, Hyperlordosis, Advanced ossification of carpal bones, Genu valgu... |
OMIM:618363 |
| Myasthenic Syndrome, Congenital, 5 |
|
Scoliosis, Hyperlordosis |
OMIM:603034 |
| Bruck Syndrome |
|
Kyphosis, Platyspondyly, Scoliosis, Wormian bones, Pterygium |
ORPHA:2771 |
| Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits |
|
Lumbar hyperlordosis, Patellar dislocation, Scoliosis |
OMIM:618167 |
| Myopathy, Centronuclear, 6, With Fiber-Type Disproportion |
|
Ankle flexion contracture, Scoliosis, Hyperlordosis |
OMIM:617760 |
| Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome |
|
Kyphosis, Scoliosis |
ORPHA:1548 |
| Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers |
|
Kyphosis, Scoliosis |
ORPHA:276630 |
| Sandhoff Disease |
|
Kyphosis |
ORPHA:796 |
| Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness |
|
Lumbar hyperlordosis, Flat acetabular roof, Irregular vertebral endplates, Platyspondyly, Delayed... |
OMIM:609616 |
| Ck Syndrome |
|
Kyphosis, Scoliosis, Hyperlordosis |
OMIM:300831 |
| Congenital Muscular Dystrophy Due To Lmna Mutation |
|
Spinal rigidity, Hyperlordosis |
ORPHA:157973 |
| Thoracomelic Dysplasia |
|
Elbow dislocation, Hyperlordosis, Genu valgum, Short neck |
ORPHA:1803 |
| Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly |
|
Multiple small vertebral fractures, Osteoporosis of vertebrae, Platyspondyly |
OMIM:156510 |
| Kleefstra Syndrome 2 |
|
Kyphosis, Scoliosis |
OMIM:617768 |
| Nemaline Myopathy 5C, Autosomal Dominant |
|
Scoliosis, Hyperlordosis |
OMIM:620389 |
| Mitochondrial Myopathy And Sideroblastic Anemia |
|
Kyphosis, Scoliosis |
ORPHA:2598 |
| Myotonia With Skeletal Abnormalities And Mental Retardation |
|
Vertebral wedging, Kyphoscoliosis, Genu valgum |
OMIM:255710 |
| Dental Anomalies And Short Stature |
|
Platyspondyly, Herniation of intervertebral nuclei, Scoliosis, Narrow vertebral interpedicular di... |
OMIM:601216 |
| Progressive Pseudorheumatoid Dysplasia |
|
Arthropathy, Enlarged interphalangeal joints, Camptodactyly of finger, Kyphoscoliosis, Osteoarthr... |
OMIM:208230 |
| X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome |
|
Kyphosis, Prominent metopic ridge, Scoliosis |
ORPHA:85317 |
| Microcephalic Osteodysplastic Dysplasia, Saul-Wilson Type |
|
Irregularity of vertebral bodies, Platyspondyly, Hypoplasia of the odontoid process |
ORPHA:85172 |
| Spondyloepimetaphyseal Dysplasia, Strudwick Type |
|
Hyperlordosis, Hypoplasia of the odontoid process, Genu valgum, Platyspondyly, Scoliosis, C1-C2 s... |
OMIM:184250 |
| Myasthenic Syndrome, Congenital, 14 |
|
Knee flexion contracture, Scoliosis, Hyperlordosis |
OMIM:616228 |
| Osteogenesis Imperfecta, Type V |
|
Vertebral wedging, Platyspondyly, Wormian bones, Anterior radial head dislocation, Biconcave vert... |
OMIM:610967 |
| Spondyloepiphyseal Dysplasia Tarda |
|
Back pain, Osteoarthritis of the distal interphalangeal joint, Limited elbow movement, Short neck... |
ORPHA:93284 |
| Autosomal Recessive Spastic Paraplegia Type 53 |
|
Kyphosis |
ORPHA:319199 |
| Pyle Disease |
|
Genu valgum, Platyspondyly, Scoliosis, Cubitus valgus, Limited elbow extension |
OMIM:265900 |
| Rhizomelic Dysplasia, Patterson-Lowry Type |
|
Genu valgum, Abnormal form of the vertebral bodies, Hyperlordosis |
ORPHA:2831 |
| Myopathy, Scapulohumeroperoneal |
|
Scoliosis, Hyperlordosis |
OMIM:616852 |
| Ehlers-Danlos Syndrome, Arthrochalasia Type, 2 |
|
Hyperlordosis, Kyphosis, Hip dislocation, Joint subluxation, Scoliosis, Wormian bones |
OMIM:617821 |
| Metaphyseal Chondrodysplasia, Schmid Type |
|
Lumbar hyperlordosis, Distal tibial bowing, Genu valgum, Irregular vertebral endplates, Platyspon... |
OMIM:156500 |
| Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3 |
|
Short neck, Multiple joint dislocation, Hip dislocation, Irregular vertebral endplates, Platyspon... |
OMIM:618395 |
| Myopathy, Distal, 1 |
|
Lumbar hyperlordosis, Scoliosis |
OMIM:160500 |
| Pelvis-Shoulder Dysplasia |
|
Back pain, Lumbar hyperlordosis, Congenital hip dislocation, Hypoplastic acetabulae, Spina bifida... |
OMIM:169550 |
| Hall-Riggs Syndrome |
|
Irregular vertebral endplates, Platyspondyly, Kyphosis, Scoliosis |
OMIM:234250 |
| Skeletal Dysplasia-Epilepsy-Short Stature Syndrome |
|
Kyphosis, Scoliosis |
ORPHA:1858 |
| X-Linked Charcot-Marie-Tooth Disease Type 5 |
|
Kyphosis, Scoliosis |
ORPHA:99014 |
| Mulchandani-Bhoj-Conlin Syndrome |
|
Scoliosis, Hyperlordosis |
OMIM:617352 |
| Borjeson-Forssman-Lehmann Syndrome |
|
Scheuermann-like vertebral changes, Kyphosis, Scoliosis, Cervical spinal canal stenosis |
OMIM:301900 |
| Metatropic Dysplasia |
|
Abnormal intervertebral disk morphology, Camptodactyly of finger, Kyphosis, Abnormal form of the ... |
ORPHA:2635 |
| Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Hyperlordosis, Short neck, Premature osteoarthritis, Platyspondyly, Squared-off platyspondyly, Sc... |
ORPHA:93352 |
| Rhizomelic Syndrome, Urbach Type |
|
Abnormality of the knee, Short neck, Kyphosis, Wide anterior fontanel, Abnormality of the elbow, ... |
ORPHA:3098 |
| Congenital Myopathy 2A, Typical, Autosomal Dominant |
|
Spinal rigidity, Scoliosis, Hyperlordosis |
OMIM:161800 |
| Myofibrillar Myopathy 10 |
|
Ankle flexion contracture, Kyphosis, Elbow flexion contracture, Knee flexion contracture, Flexion... |
OMIM:619040 |
| Myopathic Ehlers-Danlos Syndrome |
|
Kyphoscoliosis, Hyperlordosis, Ankle flexion contracture, Kyphosis, Elbow flexion contracture, Kn... |
ORPHA:536516 |
| Intellectual Developmental Disorder, Autosomal Dominant 23 |
|
Kyphosis, Sacral dimple, Scoliosis, Hyperlordosis |
OMIM:615761 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 3 |
|
Hyperlordosis |
OMIM:613157 |
| Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant |
|
Platyspondyly, Premature osteoarthritis |
OMIM:184840 |
| Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome |
|
Kyphosis, Scoliosis |
ORPHA:2429 |
| Cutis Laxa, Autosomal Recessive, Type Iie |
|
Lumbar hyperlordosis, Ovoid vertebral bodies, Craniosynostosis, Hip dislocation, Scoliosis, Genu ... |
OMIM:619451 |
| Cdkl5-Deficiency Disorder |
|
Kyphosis, Scoliosis |
ORPHA:505652 |
| Fetal Akinesia Deformation Sequence 4 |
|
Kyphosis, Short neck |
OMIM:618393 |
| Spastic Paraplegia 53, Autosomal Recessive |
|
Kyphosis |
OMIM:614898 |
| Cardiomyopathy-Cataract-Hip Spine Disease Syndrome |
|
Platyspondyly, Abnormal intervertebral disk morphology, Osteoarthritis |
ORPHA:1345 |
| Myopathy, Centronuclear, 2 |
|
Kyphosis, Scoliosis, Hyperlordosis |
OMIM:255200 |
| Developmental And Speech Delay Due To Sox5 Deficiency |
|
Vertebral fusion, Thoracic kyphoscoliosis, Lumbar hyperlordosis, Scoliosis, Butterfly vertebrae |
ORPHA:313892 |
| Camptodactyly-Joint Contractures-Facial Skeletal Defects Syndrome |
|
Camptodactyly of finger, Hyperlordosis, Vertebral segmentation defect, Scoliosis, Synostosis of c... |
ORPHA:1323 |
| Deafness-Epiphyseal Dysplasia-Short Stature Syndrome |
|
Hyperlordosis, Abnormal form of the vertebral bodies, Short neck |
ORPHA:3218 |
| Myopathy, Centronuclear, 1 |
|
Hyperlordosis |
OMIM:160150 |
| Microcephaly-Cervical Spine Fusion Anomalies Syndrome |
|
Fused cervical vertebrae, Hyperlordosis, Kyphosis, Short neck |
ORPHA:2522 |
| Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Cervical platyspondyly, Lumbar hyperlordosis, Abnormal acetabulum morphology, Increased intervert... |
ORPHA:93314 |
| Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Lumbar hyperlordosis, Short neck, Genu varum, Platyspondyly, Scoliosis, Vertebral compression fra... |
OMIM:602557 |
| Seckel Syndrome 8 |
|
Kyphoscoliosis |
OMIM:615807 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type |
|
Kyphosis, Scoliosis |
OMIM:300861 |
| Mucopolysaccharidosis, Type Iva |
|
Ulnar deviation of the wrist, Ovoid vertebral bodies, Hyperlordosis, Short neck, Hypoplasia of th... |
OMIM:253000 |
| Loeys-Dietz Syndrome 6 |
|
Hip osteoarthritis, Knee osteoarthritis, Scoliosis, Intervertebral disc degeneration |
OMIM:619656 |
| Usmani-Riazuddin Syndrome, Autosomal Dominant |
|
Lumbar hyperlordosis, Thoracic kyphosis |
OMIM:619467 |
| O'Donnell-Luria-Rodan Syndrome |
|
Kyphosis |
OMIM:618512 |
| Hydrocephaly-Tall Stature-Joint Laxity Syndrome |
|
Kyphosis, Shoulder dislocation, Scoliosis |
ORPHA:2181 |
| Spinocerebellar Ataxia, Autosomal Recessive 8 |
|
Kyphosis, Scoliosis |
OMIM:610743 |
| Ck Syndrome |
|
Lumbar hyperlordosis, Kyphoscoliosis |
ORPHA:251383 |
| Congenital Muscular Dystrophy, Ullrich Type |
|
Spinal rigidity, Short neck, Kyphosis, Hip dislocation, Elbow flexion contracture, Knee flexion c... |
ORPHA:75840 |
| Nevus Comedonicus Syndrome |
|
Spina bifida occulta, Abnormal vertebral morphology, Scoliosis |
ORPHA:64754 |
| Pseudoachondroplasia |
|
Lumbar hyperlordosis, Genu recurvatum, Ulnar deviation of the wrist, Hypoplasia of the odontoid p... |
OMIM:177170 |
| Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Enlarged joints, Kyphoscoliosis, Short neck, Hypoplasia of the odontoid process, Elbow flexion co... |
OMIM:184252 |
| Hemifacial Atrophy, Progressive |
|
Kyphosis |
OMIM:141300 |
| Mucopolysaccharidosis, Type X |
|
Hyperlordosis, Genu valgum, Platyspondyly, Posterior scalloping of vertebral bodies, Scoliosis, I... |
OMIM:619698 |
| Microbrachycephaly-Ptosis-Cleft Lip Syndrome |
|
Abnormality of the wrist, Delayed cranial suture closure, Scoliosis, Hyperlordosis |
ORPHA:2511 |
| Metatropic Dysplasia |
|
Relatively short spine, Enlarged joints, Kyphoscoliosis, Hypoplasia of the odontoid process, Kyph... |
OMIM:156530 |
| Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type |
|
Lumbar hyperlordosis, Ovoid vertebral bodies, Flat acetabular roof, Platyspondyly, Limited elbow ... |
OMIM:608728 |
| Mitochondrial Complex I Deficiency, Nuclear Type 15 |
|
Kyphosis |
OMIM:618237 |
| Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita |
|
Kyphosis, Scoliosis, Short neck |
ORPHA:178148 |
| Smith-Mccort Dysplasia 1 |
|
Short neck, Hypoplasia of the odontoid process, Kyphosis, Atlantoaxial instability, Genu valgum, ... |
OMIM:607326 |
| Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Kyphosis, Hyperlordosis |
ORPHA:3085 |
| Mitochondrial Complex I Deficiency, Nuclear Type 11 |
|
Kyphosis, Scoliosis |
OMIM:618234 |
| Intellectual Disability And Myopathy Syndrome |
|
Congenital hip dislocation, Lumbar hyperlordosis, Limited elbow extension, Scoliosis |
OMIM:619719 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5 |
|
Vertebral fusion, Kyphosis, Scoliosis, Hyperlordosis |
OMIM:606612 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5 |
|
Vertebral fusion, Kyphosis, Scoliosis, Hyperlordosis |
OMIM:607155 |
| Smith-Mccort Dysplasia 2 |
|
Enlarged interphalangeal joints, Hyperlordosis, Short neck, Hypoplasia of the odontoid process, F... |
OMIM:615222 |
| Ectodermal Dysplasia-Sensorineural Deafness Syndrome |
|
Kyphosis, Joint contracture of the 5th finger, Camptodactyly of finger, Scoliosis |
ORPHA:1883 |
| Spondylometaphyseal Dysplasia, Pagnamenta Type |
|
Wormian bones, Platyspondyly, Thoracic kyphosis |
OMIM:619638 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23 |
|
Kyphosis, Elbow flexion contracture |
OMIM:618138 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 6 |
|
Hyperlordosis |
OMIM:615156 |
| Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type |
|
Wormian bones, Wide anterior fontanel, Platyspondyly |
OMIM:601356 |
| Osteogenesis Imperfecta, Type Xv |
|
Platyspondyly, Scoliosis |
OMIM:615220 |
| Congenital Myopathy 4A, Autosomal Dominant |
|
Congenital hip dislocation, Lumbar hyperlordosis, Scoliosis |
OMIM:255310 |
| Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome |
|
Hyperlordosis |
ORPHA:1192 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 4 |
|
Hyperlordosis |
OMIM:611588 |
| Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type |
|
Kyphoscoliosis, Hip subluxation, Kyphosis, Radial head subluxation, Multiple joint dislocation, P... |
ORPHA:93360 |
| Spondyloepiphyseal Dysplasia Congenita |
|
Lumbar hyperlordosis, Ovoid vertebral bodies, Limited elbow movement, Short neck, Hypoplasia of t... |
OMIM:183900 |
| Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies |
|
Congenital hip dislocation, Delayed closure of the anterior fontanelle, Kyphosis, Scoliosis, Disl... |
OMIM:619797 |
| Cataract-Intellectual Disability-Hypogonadism Syndrome |
|
Scoliosis, Hyperlordosis |
ORPHA:1387 |
| Greenberg Dysplasia |
|
Abnormally ossified vertebrae, Platyspondyly, Abnormal form of the vertebral bodies |
ORPHA:1426 |
| Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome |
|
Kyphosis, Abnormality of the cervical spine, Camptodactyly of finger, Scoliosis |
ORPHA:48431 |
| Arthrogryposis Multiplex Congenita 3, Myogenic Type |
|
Kyphosis, Kyphoscoliosis, Flexion contracture of finger, Scoliosis |
OMIM:618484 |
| Three M Syndrome 1 |
|
Joint dislocation, Hyperlordosis, Short neck, Increased vertebral height, Hip dislocation, Spina ... |
OMIM:273750 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2 |
|
Hip dislocation, Scoliosis, Hyperlordosis |
OMIM:613156 |
| Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor |
|
Kyphosis, Sacral dimple, Wide anterior fontanel |
OMIM:618272 |
| Microcephaly, Short Stature, And Impaired Glucose Metabolism 2 |
|
Increased vertebral height, Abnormal vertebral morphology, Kyphoscoliosis, Hyperlordosis |
OMIM:616817 |
| Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development |
|
Kyphosis, Scoliosis |
OMIM:618124 |
| Amyotrophic Lateral Sclerosis 27, Juvenile |
|
Scoliosis, Hyperlordosis |
OMIM:620285 |
| Mucopolysaccharidosis Type 4 |
|
Joint dislocation, Hyperlordosis, Short neck, Kyphosis, Spinal canal stenosis, Genu valgum, Platy... |
ORPHA:582 |
| Hypomelanosis Of Ito |
|
Kyphosis, Scoliosis |
OMIM:300337 |
| King-Denborough Syndrome |
|
Lumbar hyperlordosis, Kyphoscoliosis, Short neck, Thoracic kyphosis, Scoliosis |
OMIM:619542 |
| Three M Syndrome 3 |
|
Increased vertebral height, Hyperlordosis, Short neck |
OMIM:614205 |
| Achondroplasia |
|
Lumbar hyperlordosis, Hip joint hypermobility, Kyphosis, Wide anterior fontanel, Spinal canal ste... |
ORPHA:15 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 14 |
|
Kyphosis, Scoliosis |
OMIM:300676 |
| Rhizomelic Dysplasia, Patterson-Lowry Type |
|
Platyspondyly |
OMIM:601438 |
| Congenital Arthrogryposis With Anterior Horn Cell Disease |
|
Kyphosis, Scoliosis, Short neck |
OMIM:611890 |
| Becker Nevus Syndrome |
|
Kyphosis, Spina bifida occulta, Scoliosis |
ORPHA:64755 |
| Microcephalic Primordial Dwarfism, Montreal Type |
|
Kyphosis, Vertebral segmentation defect, Scoliosis |
ORPHA:2617 |
| Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1 |
|
Back pain, Lumbar hyperlordosis |
OMIM:167320 |
| Anauxetic Dysplasia 1 |
|
Hip contracture, Lumbar hyperlordosis, Short neck, Limited elbow extension, Elbow flexion contrac... |
OMIM:607095 |
| Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age |
|
Joint dislocation, Hyperlordosis, Flat acetabular roof, Genu valgum, Coronal cleft vertebrae, Sco... |
OMIM:618870 |
| Zimmermann-Laband Syndrome 3 |
|
Kyphosis |
OMIM:618658 |
| Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome |
|
Platyspondyly |
ORPHA:71267 |
| Osteogenesis Imperfecta, Type Xi |
|
Protrusio acetabuli, Kyphoscoliosis, Vertebral wedging, Biconcave vertebral bodies, Scoliosis, Wo... |
OMIM:610968 |
| Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome |
|
Vertebral fusion, Elbow dislocation, Kyphosis, Hemivertebrae, Abnormal form of the vertebral bodi... |
ORPHA:2916 |
| Spondyloepiphyseal Dysplasia Congenita |
|
Back pain, Abnormally ossified vertebrae, Lumbar hyperlordosis, Limited elbow movement, Short nec... |
ORPHA:94068 |
| Typical Nemaline Myopathy |
|
Hyperlordosis, Spinal rigidity, Kyphosis, Short neck, Hip dislocation, Genu valgum, Scoliosis, Ge... |
ORPHA:171436 |
| Chst3-Related Skeletal Dysplasia |
|
Enlarged joints, Kyphoscoliosis, Abnormality of the elbow, Abnormal form of the vertebral bodies,... |
ORPHA:263463 |
| Rhizomelic Dysplasia, Ain-Naz Type |
|
Platyspondyly |
OMIM:619598 |
| Difference Of Sex Development-Intellectual Disability Syndrome |
|
Kyphosis, Spina bifida occulta, Genu valgum, Short neck |
ORPHA:2983 |
| Pomt1-Related Limb-Girdle Muscular Dystrophy R11 |
|
Lumbar hyperlordosis, Scoliosis, Spinal rigidity |
ORPHA:86812 |
| Lopes-Maciel-Rodan Syndrome |
|
Ankle clonus, Kyphosis, Scoliosis |
OMIM:617435 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5 |
|
Scoliosis, Hyperlordosis |
OMIM:253700 |
| Langer Mesomelic Dysplasia |
|
Lumbar hyperlordosis, Madelung deformity |
OMIM:249700 |
| Osteogenesis Imperfecta, Type Iii |
|
Protrusio acetabuli, Kyphosis, Wide anterior fontanel, Scoliosis, Wormian bones, Biconcave verteb... |
OMIM:259420 |
| Satoyoshi Syndrome |
|
Abnormality of the knee, Hyperlordosis, Abnormal joint morphology, Abnormality of the wrist, Genu... |
ORPHA:3130 |
| Ollier Disease |
|
Multiple enchondromatosis, Platyspondyly, Abnormal cartilage morphology |
ORPHA:296 |
| Metaphyseal Chondrodysplasia, Schmid Type |
|
Lumbar hyperlordosis, Irregular vertebral endplates, Platyspondyly, Abnormal vertebral morphology... |
ORPHA:174 |
| Scapuloperoneal Spinal Muscular Atrophy |
|
Kyphosis, Scoliosis, Hyperlordosis |
OMIM:181405 |
| Dystonia 1, Torsion, Autosomal Dominant |
|
Kyphosis, Scoliosis, Hyperlordosis |
OMIM:128100 |
| 3Mc Syndrome |
|
Craniosynostosis, Hyperlordosis, Limited pronation/supination of forearm, Hip dislocation, Radiou... |
ORPHA:293843 |
| Myotonia Permanens |
|
Hyperlordosis |
ORPHA:99735 |
| Baralle-Macken Syndrome |
|
Kyphosis |
OMIM:619255 |
| Desbuquois Dysplasia 1 |
|
Joint dislocation, Phalangeal dislocation, Hyperlordosis, Short neck, Kyphosis, Osteoarthritis, A... |
OMIM:251450 |
| Clark-Baraitser syndrome |
|
Kyphosis, Genu recurvatum, Scoliosis, Genu valgum |
OMIM:300602 |
| Weismann-Netter Syndrome |
|
Kyphosis, Scoliosis, Abnormal form of the vertebral bodies |
ORPHA:3344 |
| Sjögren-Larsson Syndrome |
|
Kyphosis, Scoliosis |
ORPHA:816 |
| Zimmermann-Laband Syndrome 2 |
|
Kyphosis, Short neck |
OMIM:616455 |
| Nemaline Myopathy 2 |
|
Spinal rigidity, Scoliosis, Hyperlordosis |
OMIM:256030 |
| Arthrogryposis, Distal, Type 3 |
|
Lumbar hyperlordosis, Congenital hip dislocation, Thoracolumbar scoliosis, Kyphoscoliosis, Short ... |
OMIM:114300 |
| Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5 |
|
Lumbar hyperlordosis, Scoliosis |
ORPHA:353 |
| Spondylometaphyseal Dysplasia, Algerian Type |
|
Lumbar hyperlordosis, Kyphoscoliosis, Genu valgum, Platyspondyly, Carpal bone hypoplasia |
OMIM:184253 |
| Arthrogryposis, Distal, Type 5D |
|
Congenital hip dislocation, Limited elbow movement, Hyperlordosis, Short neck, Limited knee flexi... |
OMIM:615065 |
| Spastic Paraplegia, Optic Atrophy, And Neuropathy |
|
Ankle clonus, Kyphosis, Scoliosis |
OMIM:609541 |
| Camptodactyly-Arthropathy-Coxa-Vara-Pericarditis Syndrome |
|
Lumbar hyperlordosis, Camptodactyly of finger, Wrist swelling, Polyarticular arthropathy, Knee os... |
ORPHA:2848 |
| Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus |
|
Hyperlordosis, Hypoplasia of the odontoid process, Irregular carpal bones, Hip dislocation, Genu ... |
OMIM:226980 |
| Ruvalcaba Syndrome |
|
Kyphosis, Limited elbow extension, Scoliosis |
OMIM:180870 |
| Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome |
|
Ovoid vertebral bodies, Short neck, Wide anterior fontanel, Abnormality of the elbow, Flat acetab... |
ORPHA:163649 |
| Bruck Syndrome 2 |
|
Elbow flexion contracture, Knee flexion contracture, Platyspondyly, Wormian bones, Pterygium |
OMIM:609220 |
| Mcdonough Syndrome |
|
Kyphosis, Scoliosis |
ORPHA:2471 |
| Osteogenesis Imperfecta, Type Iv |
|
Wormian bones, Kyphosis, Biconcave flattened vertebrae, Scoliosis |
OMIM:166220 |
| Spondyloperipheral Dysplasia-Short Ulna Syndrome |
|
Abnormal hip joint morphology, Ovoid vertebral bodies, Abnormality of the vertebral endplates, Pl... |
ORPHA:1856 |
| Congenital Myasthenic Syndromes With Glycosylation Defect |
|
Lumbar hyperlordosis, Scoliosis, Knee flexion contracture |
ORPHA:353327 |
| Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive |
|
Lumbar hyperlordosis, Enlarged joints, Premature osteoarthritis, Coronal cleft vertebrae, Platysp... |
OMIM:215150 |
| Schwartz-Jampel Syndrome, Type 1 |
|
Hip contracture, Lumbar hyperlordosis, Congenital hip dislocation, Cervical kyphosis, Kyphoscolio... |
OMIM:255800 |
| Spastic Paraplegia 46, Autosomal Recessive |
|
Ankle clonus, Kyphosis, Scoliosis |
OMIM:614409 |
| Stiff Person Spectrum Disorder |
|
Lumbar hyperlordosis |
ORPHA:3198 |
| Frank-Ter Haar Syndrome |
|
Genu recurvatum, Camptodactyly of finger, Kyphosis, Scoliosis, Beaking of vertebral bodies |
ORPHA:137834 |
| Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Y |
|
Limited knee flexion, Lumbar hyperlordosis |
ORPHA:435387 |
| Calvarial Doughnut Lesions With Bone Fragility |
|
Platyspondyly, Scoliosis |
OMIM:126550 |
| Mitochondrial Dna Depletion Syndrome 11 |
|
Neuropathic spinal arthropathy, Kyphosis, Spinal rigidity |
OMIM:615084 |
| Otospondylomegaepiphyseal Dysplasia |
|
Abnormally ossified vertebrae, Lumbar hyperlordosis, Enlarged joints, Short neck, Osteoarthritis,... |
ORPHA:1427 |
| Spondyloepimetaphyseal Dysplasia, Aggrecan Type |
|
Platyspondyly, Lumbar hyperlordosis, Short neck |
OMIM:612813 |
| Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome |
|
Lumbar hyperlordosis, Thoracolumbar scoliosis, Kyphoscoliosis, Patellar hypoplasia, Patellar subl... |
ORPHA:3041 |
| Crisponi Syndrome |
|
Kyphosis, Camptodactyly of finger, Scoliosis |
ORPHA:1545 |
| Mucopolysaccharidosis, Type Ivb |
|
Ulnar deviation of the wrist, Ovoid vertebral bodies, Hyperlordosis, Hypoplasia of the odontoid p... |
OMIM:253010 |
| Acromesomelic Dysplasia 1 |
|
Lumbar hyperlordosis, Ovoid vertebral bodies, Thoracolumbar interpediculate narrowness, Thoracolu... |
OMIM:602875 |
| Wieacker-Wolff Syndrome |
|
Hyperlordosis, Short neck, Kyphosis, Hip dislocation, Scoliosis |
OMIM:314580 |
| Autosomal Recessive Emery-Dreifuss Muscular Dystrophy |
|
Back pain, Spinal rigidity, Hyperlordosis, Kyphosis, Elbow flexion contracture, Scoliosis |
ORPHA:98855 |
| Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome |
|
Kyphosis |
ORPHA:77300 |
| Oculoskeletodental Syndrome |
|
Thoracic kyphosis, Scoliosis, Hyperlordosis |
ORPHA:557003 |
| Myopathy, Myofibrillar, 7 |
|
Lumbar hyperlordosis, Spinal rigidity, Elbow flexion contracture, Thoracic kyphosis, Scoliosis |
OMIM:617114 |
| Stickler Syndrome, Type I |
|
Arthropathy, Kyphosis, Osteoarthritis, Arthritis, Platyspondyly, Morbus Scheuermann, Scoliosis, B... |
OMIM:108300 |
| X-Linked Emery-Dreifuss Muscular Dystrophy |
|
Back pain, Hyperlordosis, Short neck, Kyphosis, Spinal rigidity, Elbow flexion contracture, Scoli... |
ORPHA:98863 |
| Diastrophic Dysplasia |
|
Joint dislocation, Camptodactyly of finger, Elbow dislocation, Kyphosis, Abnormal form of the ver... |
ORPHA:628 |
| 3M Syndrome |
|
Congenital hip dislocation, Hyperlordosis, Short neck, Increased vertebral height, Kyphosis, Abno... |
ORPHA:2616 |
| Lateral Meningocele Syndrome |
|
Prominent metopic ridge, Hyperlordosis, Short neck, Kyphosis, Abnormal form of the vertebral bodi... |
ORPHA:2789 |
| Autosomal Recessive Spondylocostal Dysostosis |
|
Abnormal intervertebral disk morphology, Camptodactyly of finger, Short neck, Kyphosis, Abnormal ... |
ORPHA:2311 |
| Lipodystrophy, Familial Partial, Type 6 |
|
Lumbar hyperlordosis |
OMIM:615980 |
| Jansen-De Vries Syndrome |
|
Hyperlordosis |
OMIM:617450 |
| Geroderma Osteodysplastica |
|
Vertebral compression fracture, Hip dislocation, Abnormal form of the vertebral bodies, Platyspon... |
ORPHA:2078 |
| Spondyloarthropathy, Susceptibility To, 1 |
|
Back pain, Kyphosis, Oligoarthritis, Sacroiliac arthritis, Hip osteoarthritis |
OMIM:106300 |
| Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type |
|
Abnormally ossified vertebrae, Platyspondyly, Delayed ossification of carpal bones, Cervical inst... |
ORPHA:93346 |
| Subaortic Stenosis-Short Stature Syndrome |
|
Kyphosis, Synostosis of carpal bones, Scoliosis, Short neck |
ORPHA:3191 |
| Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant |
|
Sacral dimple, Congenital hip dislocation, Kyphosis, Hip dislocation, Scoliosis, Spina bifida occ... |
OMIM:618291 |
| Spondylometaphyseal Dysplasia, 'Corner Fracture' Type |
|
Vertebral fusion, Biconvex vertebral bodies, Lumbar hyperlordosis, Ovoid vertebral bodies, Short ... |
ORPHA:93315 |
| Sacral Agenesis With Vertebral Anomalies |
|
Absence of the sacrum, Vertebral clefting, Abnormal vertebral morphology |
OMIM:615709 |
| Dysostosis, Stanescu Type |
|
Persistent open anterior fontanelle, Hyperlordosis, Short neck, Kyphosis, Scoliosis, Wormian bones |
ORPHA:1798 |
| Pfeiffer Syndrome |
|
Hyperlordosis, Synostosis of carpal bones, Short neck |
ORPHA:710 |
| Autism Spectrum Disorder Due To Auts2 Deficiency |
|
Kyphosis, Joint contracture of the hand, Joint contracture of the 5th finger, Scoliosis |
ORPHA:352490 |
| Cole-Carpenter Syndrome 2 |
|
Wide cranial sutures, Kyphosis, Platyspondyly, Lambdoidal craniosynostosis, Wormian bones, Corona... |
OMIM:616294 |
| Intellectual Developmental Disorder, Autosomal Dominant 26 |
|
Kyphosis, Scoliosis |
OMIM:615834 |
| Alpha-Mannosidosis |
|
Short neck, Kyphosis, Arthritis, Scoliosis, Synostosis of joints |
ORPHA:61 |
| Alg1-Cdg |
|
Kyphosis, Scoliosis |
ORPHA:79327 |
| Arthrogryposis, Distal, Type 4 |
|
Kyphosis, Camptodactyly of 2nd-5th fingers, Lumbar scoliosis, Scoliosis |
OMIM:609128 |
| Emery-Dreifuss Muscular Dystrophy |
|
Back pain, Spinal rigidity, Hyperlordosis, Kyphosis, Elbow flexion contracture, Scoliosis |
ORPHA:261 |
| Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
|
Back pain, Spinal rigidity, Hyperlordosis, Kyphosis, Elbow flexion contracture, Scoliosis |
ORPHA:98853 |
| Congenital Myopathy 10B, Mild Variant |
|
Knee contracture, Scoliosis, Hyperlordosis |
OMIM:620249 |
| Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly |
|
Joint dislocation, Ovoid vertebral bodies, Thoracolumbar scoliosis, Hyperlordosis, Thoracic platy... |
OMIM:618019 |
| Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Irregular sclerotic endplates, Osteoarthritis, Platyspondyly, Pear-shaped vertebrae, Limited elbo... |
OMIM:602111 |
| Marfanoid Habitus With Situs Inversus |
|
Kyphosis, Genu recurvatum, Scoliosis |
OMIM:609008 |
| Spondyloepimetaphyseal Dysplasia, Aggrecan Type |
|
Lumbar hyperlordosis, Short neck |
ORPHA:171866 |
| Progressive Non-Infectious Anterior Vertebral Fusion |
|
Proximal radio-ulnar synostosis, Abnormal intervertebral disk morphology, Spinal rigidity, Kyphos... |
ORPHA:2062 |
| Uruguay Faciocardiomusculoskeletal Syndrome |
|
Congenital hip dislocation, Kyphoscoliosis, Limited elbow movement, Kyphosis, Scoliosis, Dislocat... |
OMIM:300280 |
| Developmental Malformations-Deafness-Dystonia Syndrome |
|
Kyphosis, Scoliosis |
ORPHA:79107 |
| Sialidosis Type 2 |
|
Kyphosis |
ORPHA:87876 |
| Lethal Kniest-Like Dysplasia |
|
Short neck, Wide anterior fontanel, Abnormal cartilage morphology, Abnormal cartilage matrix, Hyp... |
ORPHA:2347 |
| Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia |
|
Abnormality of the vertebral column, Hyperlordosis |
ORPHA:52430 |
| Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome |
|
Kyphosis, Hip dislocation, Scoliosis |
ORPHA:464282 |
| Czech Dysplasia |
|
Irregular vertebral endplates, Platyspondyly, Thoracic kyphosis, Scoliosis, Intervertebral space ... |
OMIM:609162 |
| Spondylometaphyseal Dysplasia, Schmidt Type |
|
Abnormality of the knee, Kyphoscoliosis, Genu valgum, Platyspondyly, Abnormality of the vertebral... |
ORPHA:93316 |
| Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy |
|
Lumbar hyperlordosis, Scoliosis |
OMIM:601152 |
| Arthrogryposis, Distal, Type 5 |
|
Limited wrist extension, Kyphosis, Congenital finger flexion contractures, Scoliosis, Recurrent p... |
OMIM:108145 |
| Autosomal Recessive Centronuclear Myopathy |
|
Hip contracture, Hyperlordosis |
ORPHA:169186 |
| Muscular Dystrophy, Duchenne Type |
|
Knee flexion contracture, Scoliosis, Hyperlordosis |
OMIM:310200 |
| Osteogenesis Imperfecta, Type Xxi |
|
Wormian bones, Platyspondyly, Scoliosis |
OMIM:619131 |
| Cole-Carpenter Syndrome |
|
Wormian bones, Kyphosis, Scoliosis, Abnormal form of the vertebral bodies |
ORPHA:2050 |
| Spondyloepimetaphyseal Dysplasia, Sponastrime Type |
|
Lumbar hyperlordosis, Kyphoscoliosis, Genu valgum, Platyspondyly, Thoracic kyphosis, Delayed ossi... |
OMIM:271510 |
| Chromosome 3Q13.31 Deletion Syndrome |
|
Kyphosis |
OMIM:615433 |
| Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome |
|
Neuropathic spinal arthropathy, Kyphosis, Spinal rigidity |
ORPHA:352447 |
| Three M Syndrome 2 |
|
Hyperlordosis, Lumbar hyperlordosis, Short neck |
OMIM:612921 |
| Flynn-Aird Syndrome |
|
Kyphosis, Scoliosis |
ORPHA:2047 |
| Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder |
|
Kyphosis |
ORPHA:500180 |
| Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome |
|
Abnormality of the knee, Thoracolumbar scoliosis, Kyphoscoliosis, Hyperlordosis, Thoracic platysp... |
ORPHA:457395 |
| Dyggve-Melchior-Clausen Disease |
|
Lumbar hyperlordosis, Short neck, Hypoplasia of the odontoid process, Kyphosis, Flat acetabular r... |
OMIM:223800 |
| Nail-Patella Syndrome |
|
Back pain, Patellar hypoplasia, Knee flexion contracture, Limited pronation/supination of forearm... |
ORPHA:2614 |
| Trisomy 9P |
|
Kyphosis, Sacral dimple, Scoliosis, Short neck |
ORPHA:236 |
| Bethlem Myopathy |
|
Lumbar hyperlordosis, Interphalangeal joint contracture of finger, Ankle flexion contracture, Spi... |
ORPHA:610 |
| Ruvalcaba Syndrome |
|
Kyphosis, Abnormality of the elbow, Scoliosis, Abnormal vertebral epiphysis morphology, Synostosi... |
ORPHA:3121 |
| Trappc11-Related Limb-Girdle Muscular Dystrophy R18 |
|
Hyperlordosis |
ORPHA:369840 |
| Vacterl Association With Hydrocephalus |
|
Abnormality of the vertebral column, Abnormal vertebral morphology |
OMIM:276950 |
| Osteopathia Striata-Cranial Sclerosis Syndrome |
|
Spina bifida occulta, Delayed cranial suture closure, Scoliosis, Hyperlordosis |
ORPHA:2780 |
| Braddock-Carey Syndrome 1 |
|
Hyperlordosis |
OMIM:619980 |
| Thanatophoric Dysplasia |
|
Abnormal sacroiliac joint morphology, Platyspondyly, Kyphosis |
ORPHA:2655 |
| Cap Myopathy |
|
Thoracic scoliosis, Lumbar hyperlordosis |
ORPHA:171881 |
| Joubert Syndrome 37 |
|
Prominent metopic ridge, Lumbar hyperlordosis |
OMIM:619185 |
| 4Q21 Microdeletion Syndrome |
|
Kyphosis, Scoliosis, Short neck |
ORPHA:238750 |
| Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia |
|
Congenital hip dislocation, Hyperlordosis, Hypoplasia of the odontoid process, Hip dislocation, S... |
OMIM:616007 |
| Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome |
|
Kyphosis, Abnormality of the elbow, Hip dislocation, Vertebral segmentation defect, Scoliosis, Sy... |
ORPHA:1005 |
| Mucopolysaccharidosis Type 6 |
|
Kyphosis, Genu valgum, Ovoid vertebral bodies, Short neck |
ORPHA:583 |
| Geroderma Osteodysplasticum |
|
Kyphoscoliosis, Vertebral compression fracture, Irregular vertebral endplates, Platyspondyly, Bic... |
OMIM:231070 |
| Myasthenic Syndrome, Congenital, 20, Presynaptic |
|
Kyphosis, Scoliosis |
OMIM:617143 |
| Pure Mitochondrial Myopathy |
|
Lumbar hyperlordosis, Scoliosis |
ORPHA:254854 |
| Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities |
|
Thoracolumbar scoliosis, Hyperlordosis, Kyphosis, Genu valgum, Scoliosis |
OMIM:618443 |
| Spondylocarpotarsal Synostosis Syndrome |
|
Vertebral fusion, Block vertebrae, Tarsal synostosis, Hyperlordosis, Short neck, Hypoplasia of th... |
OMIM:272460 |
| Trichorhinophalangeal Syndrome Type 1 |
|
Camptodactyly of finger, Scoliosis, Hyperlordosis |
ORPHA:77258 |
| Urban-Rogers-Meyer Syndrome |
|
Kyphosis, Camptodactyly of finger, Short neck |
ORPHA:3409 |
| Marinesco-Sjogren Syndrome |
|
Cubitus valgus, Kyphosis, Scoliosis |
OMIM:248800 |
| Ullrich Congenital Muscular Dystrophy 1 |
|
Spinal rigidity, Kyphosis, Hip dislocation, Increased laxity of ankles, Scoliosis |
OMIM:254090 |
| Congenital Disorder Of Glycosylation, Type Il |
|
Kyphosis, Hip dislocation, Short neck |
OMIM:608776 |
| Pycnodysostosis |
|
Persistent open anterior fontanelle, Hyperlordosis, Kyphosis, Spondylolysis, Scoliosis, Wormian b... |
ORPHA:763 |
| Basilar Impression, Primary |
|
Kyphoscoliosis, Short neck |
OMIM:109500 |
| Mayer-Rokitansky-Küster-Hauser Syndrome |
|
Vertebral fusion, Abnormal sacrum morphology, Abnormal form of the vertebral bodies, Vertebral se... |
ORPHA:3109 |
| Desbuquois Dysplasia 2 |
|
Lumbar hyperlordosis, Short neck, Radial head subluxation, Hip dislocation, Advanced ossification... |
OMIM:615777 |
| Sialidosis Type 1 |
|
Kyphosis, Scoliosis, Abnormal form of the vertebral bodies |
ORPHA:812 |
| Thanatophoric Dysplasia Type 2 |
|
Kyphosis, Platyspondyly |
ORPHA:93274 |
| 15Q14 Microdeletion Syndrome |
|
Kyphosis, Scoliosis |
ORPHA:261190 |
| Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome |
|
Hyperlordosis |
ORPHA:3068 |
| Spondyloperipheral Dysplasia |
|
Ovoid vertebral bodies, Short neck, Kyphosis, Flat acetabular roof, Irregular vertebral endplates... |
OMIM:271700 |
| Osteogenesis Imperfecta, Type Viii |
|
Kyphosis, Wide anterior fontanel, Platyspondyly, Scoliosis, Wormian bones, Vertebral compression ... |
OMIM:610915 |
| Fountain Syndrome |
|
Kyphosis, Spina bifida occulta, Scoliosis, Abnormal form of the vertebral bodies |
ORPHA:3219 |
| Foxg1 Syndrome Due To 14Q12 Microdeletion |
|
Kyphosis, Prominent metopic ridge, Scoliosis |
ORPHA:261144 |
| Infantile Liver Failure Syndrome 3 |
|
Hypoplastic vertebral bodies, Beaking of vertebral bodies, Abnormal acetabulum morphology, Platys... |
OMIM:618641 |
| Saethre-Chotzen Syndrome |
|
Proximal radio-ulnar synostosis, Craniosynostosis, Hyperlordosis, Prominent crus of helix, Abnorm... |
ORPHA:794 |
| Gm1-Gangliosidosis, Type I |
|
Short neck, Kyphosis, Hypoplastic vertebral bodies, Scoliosis, Beaking of vertebral bodies |
OMIM:230500 |
| Atypical Rett Syndrome |
|
Kyphosis, Scoliosis |
ORPHA:3095 |
| Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1 |
|
Hyperlordosis |
OMIM:600462 |
| Distal 16P11.2 Microdeletion Syndrome |
|
Kyphosis |
ORPHA:261222 |
| Acromesomelic Dysplasia 4 |
|
Thoracic scoliosis, Lumbar hyperlordosis, Thoracic platyspondyly, Genu valgum, Platyspondyly, Bea... |
OMIM:619636 |
| Spondyloenchondrodysplasia With Immune Dysregulation |
|
Lumbar hyperlordosis, Kyphoscoliosis, Increased intervertebral space, Irregular vertebral endplat... |
OMIM:607944 |
| Srd5A3-Cdg |
|
Kyphosis, Abnormal sacrum morphology |
ORPHA:324737 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type |
|
Scoliosis, Hyperlordosis |
OMIM:300986 |
| Dysferlin-Related Limb-Girdle Muscular Dystrophy R2 |
|
Limited knee flexion/extension, Spinal rigidity, Limited elbow movement, Hyperlordosis |
ORPHA:268 |
| Cohen Syndrome |
|
Cubitus valgus, Thoracic scoliosis, Lumbar hyperlordosis, Genu valgum |
OMIM:216550 |
| Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 |
|
Kyphosis, Thoracic scoliosis, Knee flexion contracture |
OMIM:603387 |
| Fucosidosis |
|
Cervical platyspondyly, Lumbar hyperlordosis, Ovoid vertebral bodies, Anterior beaking of thoraci... |
OMIM:230000 |
| Gm1 Gangliosidosis |
|
Camptodactyly of finger, Hyperlordosis, Kyphosis, Abnormal form of the vertebral bodies, Platyspo... |
ORPHA:354 |
| Achondroplasia |
|
Lumbar hyperlordosis, Lumbar kyphosis in infancy, Spinal stenosis with reduced interpedicular dis... |
OMIM:100800 |
| Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities |
|
Scapulohumeral synostosis, Lumbar hyperlordosis, Hip dislocation, Dislocated radial head |
OMIM:602471 |
| Stiff-Person Syndrome |
|
Lumbar hyperlordosis |
OMIM:184850 |
| Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans |
|
Kyphosis, Platyspondyly, Lumbar hyperlordosis, Wide anterior fontanel |
OMIM:616482 |
| Intellectual Developmental Disorder, Autosomal Dominant 52 |
|
Cervical C2/C3 vertebral fusion, Lumbar hyperlordosis, Lumbar scoliosis |
OMIM:617796 |
| Short Stature, Oligodontia, Dysmorphic Facies, And Motor Delay |
|
Back pain, Bilateral camptodactyly, Lumbar hyperlordosis, Lumbar kyphosis |
OMIM:619234 |
| Pelvis-Shoulder Dysplasia |
|
Lumbar hyperlordosis, Camptodactyly of finger, Prominent protruding coccyx, Abnormal form of the ... |
ORPHA:2839 |
| Schimke Immunoosseous Dysplasia |
|
Lumbar hyperlordosis, Ovoid vertebral bodies, Short neck, Platyspondyly, Thoracic kyphosis, Shall... |
OMIM:242900 |
| Wieacker-Wolff Syndrome, Female-Restricted |
|
Hip contracture, Short neck, Kyphosis, Hip dislocation, Scoliosis |
OMIM:301041 |
| Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome |
|
Kyphosis, Scoliosis |
OMIM:615381 |
| Microphthalmia, Lenz Type |
|
Kyphosis, Camptodactyly of finger, Scoliosis, Hyperlordosis |
ORPHA:568 |
| Intellectual Disability-Polydactyly-Uncombable Hair Syndrome |
|
Kyphosis, Short neck |
ORPHA:3082 |
| Thanatophoric Dysplasia Type 1 |
|
Abnormal sacroiliac joint morphology, Platyspondyly, Wide anterior fontanel, Kyphosis |
ORPHA:1860 |
| Pelizaeus-Merzbacher Disease |
|
Kyphosis, Scoliosis |
ORPHA:702 |
| Short Stature, Impaired Intellectual Development, Microcephaly, Hypotonia, And Ocular Anomalies |
|
Kyphosis, Bilateral camptodactyly, Hip subluxation, Scoliosis |
OMIM:619557 |
| Aneurysm-Osteoarthritis Syndrome |
|
Osteoarthritis of the small joints of the hand, Protrusio acetabuli, Camptodactyly of finger, Cra... |
ORPHA:284984 |
| Trichodermodysplasia-Dental Alterations Syndrome |
|
Scoliosis, Hyperlordosis |
ORPHA:3353 |
| Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations |
|
Joint dislocation, Arthropathy, Genu recurvatum, Short neck, Irregular vertebral endplates, Shoul... |
OMIM:143095 |
| Orofaciodigital Syndrome Iii |
|
Kyphosis |
OMIM:258850 |
| Schaaf-Yang Syndrome |
|
Kyphosis, Scoliosis |
OMIM:615547 |
| Cono-Spondylar Dysplasia |
|
Kyphosis, Scoliosis, Short neck |
ORPHA:420794 |
| Hurler-Scheie Syndrome |
|
Kyphosis, Contracture of the distal interphalangeal joint of the fingers, Camptodactyly of finger... |
OMIM:607015 |
| Pontocerebellar Hypoplasia, Type 17 |
|
Kyphosis |
OMIM:619909 |
| Osteogenesis Imperfecta, Type Xvii |
|
Vertebral compression fracture, Hip dislocation, Platyspondyly, Kyphoscoliosis |
OMIM:616507 |
| Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Sacral dimple, Lumbar hyperlordosis, Limited elbow movement, Craniosynostosis, Increased interver... |
ORPHA:508533 |
| Harrod Syndrome |
|
Kyphosis, Scoliosis |
ORPHA:2115 |
| Cdags Syndrome |
|
Sagittal craniosynostosis, Kyphosis, Lambdoidal craniosynostosis, Coronal craniosynostosis, Delay... |
OMIM:603116 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type |
|
Kyphosis |
OMIM:300354 |
| Mucopolysaccharidosis, Type Vii |
|
Anterior beaking of lower thoracic vertebrae, Short neck, Hypoplasia of the odontoid process, Kyp... |
OMIM:253220 |
| Marden-Walker Syndrome |
|
Short neck, Kyphosis, Wide anterior fontanel, Radioulnar synostosis, Scoliosis, Joint contracture... |
OMIM:248700 |
| Autoimmune Disease, Multisystem, With Facial Dysmorphism |
|
Increased vertebral height, Lumbar hyperlordosis, Thoracic kyphoscoliosis, Limited elbow extension |
OMIM:613385 |
| Acro-Renal-Mandibular Syndrome |
|
Short neck, Kyphosis, Hemivertebrae, Hip dislocation, Scoliosis, Butterfly vertebrae |
ORPHA:958 |
| Posterior Column Ataxia-Retinitis Pigmentosa Syndrome |
|
Kyphosis, Flexion contracture of finger, Scoliosis |
ORPHA:88628 |
| Holt-Oram Syndrome |
|
Kyphosis, Radioulnar synostosis, Scoliosis |
ORPHA:392 |
| Trichorhinophalangeal Syndrome, Type I |
|
Osteoarthritis, Scoliosis, Hyperlordosis |
OMIM:190350 |
| Fucosidosis |
|
Kyphosis, Anterior beaking of lumbar vertebrae |
ORPHA:349 |
| Pituitary Adenoma 4, Acth-Secreting |
|
Kyphosis, Vertebral compression fracture, Biconcave vertebral bodies |
OMIM:219090 |
| Rett Syndrome |
|
Kyphosis, Scoliosis |
OMIM:312750 |
| Pelger-Huet Anomaly |
|
Kyphosis |
OMIM:169400 |
| Multiple Endocrine Neoplasia, Type Iib |
|
Kyphosis, Scoliosis, Hyperlordosis |
OMIM:162300 |
| Congenital Myopathy 22A, Classic |
|
Hip contracture, Thoracic scoliosis, Spinal rigidity, Kyphosis, Knee contracture, Scoliosis, Cong... |
OMIM:620351 |
| Autosomal Recessive Ataxia, Beauce Type |
|
Ankle clonus, Kyphosis, Scoliosis |
ORPHA:88644 |
| Hypogonadotropic Hypogonadism 26 With Or Without Anosmia |
|
Bicoronal synostosis, Kyphosis, Scoliosis |
OMIM:619718 |
| Cartilage-Hair Hypoplasia |
|
Lumbar hyperlordosis, Hypoplasia of the odontoid process, Scoliosis, Narrow vertebral interpedicu... |
OMIM:250250 |
| Nail-Patella Syndrome |
|
Back pain, Lumbar hyperlordosis, Patellar aplasia, Antecubital pterygium, Patellar hypoplasia, Pa... |
OMIM:161200 |
| Chromosome Xq26.3 Duplication Syndrome |
|
Kyphosis |
OMIM:300942 |
| Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Wide anterior fontanel, Hyperlordosis |
ORPHA:26791 |
| Frontorhiny |
|
Lumbar hyperlordosis, Camptodactyly of finger, Scoliosis |
ORPHA:391474 |
| Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness |
|
Lumbar hyperlordosis, Genu valgum, Scoliosis, Carpal bone hypoplasia, Genu varum |
OMIM:250420 |
| Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Lumbar hyperlordosis |
ORPHA:370959 |
| Schimke Immuno-Osseous Dysplasia |
|
Lumbar hyperlordosis, Ovoid vertebral bodies, Short neck, Platyspondyly, Shallow acetabular fossae |
ORPHA:1830 |
| Multiple Pterygium Syndrome, Escobar Variant |
|
Thoracolumbar scoliosis, Short neck, Kyphosis, Dysplastic patella, Patellar aplasia, Hip dislocat... |
OMIM:265000 |
| Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Kyphosis, Platyspondyly, Sclerotic vertebral body |
OMIM:618476 |
| Osteoporosis-Pseudoglioma Syndrome |
|
Kyphoscoliosis, Kyphosis, Platyspondyly, Scoliosis, Biconcave vertebral bodies, Vertebral compres... |
OMIM:259770 |
| Lipodystrophy, Congenital Generalized, Type 4 |
|
Spinal rigidity, Scoliosis, Hyperlordosis |
OMIM:613327 |
| Genitopalatocardiac Syndrome |
|
Kyphosis, Scoliosis |
ORPHA:2075 |
| Mosaic Trisomy 20 |
|
Vertebral fusion, Kyphosis, Spinal canal stenosis, Fused cervical vertebrae, Vertebral segmentati... |
ORPHA:1724 |
| Acth-Independent Macronodular Adrenal Hyperplasia |
|
Kyphosis |
OMIM:219080 |
| X-Linked Intellectual Disability Due To Gria3 Mutations |
|
Kyphosis, Genu recurvatum, Scoliosis |
ORPHA:364028 |
| Chromosome 10Q26 Deletion Syndrome |
|
Congenital hip dislocation, Lumbar hyperlordosis, Craniosynostosis, Short neck, Limited elbow ext... |
OMIM:609625 |
| 15Q24 Microdeletion Syndrome |
|
Kyphosis, Scoliosis |
ORPHA:94065 |
| Shashi-Pena Syndrome |
|
Cervical C2/C3 vertebral fusion, Kyphosis, Scoliosis |
OMIM:617190 |
| Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities |
|
Hip contracture, Kyphosis, Elbow flexion contracture, Genu valgum, Scoliosis |
OMIM:618493 |
| Pigmented Nodular Adrenocortical Disease, Primary, 2 |
|
Kyphosis |
OMIM:610475 |
| Schwartz-Jampel Syndrome |
|
Hip contracture, Abnormally ossified vertebrae, Protrusio acetabuli, Short neck, Hyperlordosis, K... |
ORPHA:800 |
| Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4 |
|
Bicoronal synostosis, Kyphosis, Camptodactyly of finger, Scoliosis |
OMIM:619951 |
| Lateral Meningocele Syndrome |
|
Vertebral fusion, Short neck, Kyphosis, Scoliosis, Wormian bones, Biconcave vertebral bodies |
OMIM:130720 |
| Postencephalitic Parkinsonism |
|
Kyphosis, Camptocormia |
ORPHA:97349 |
| Shprintzen Omphalocele Syndrome |
|
Kyphosis, Lumbar hyperlordosis, Scoliosis |
OMIM:182210 |
| 19P13.12 Microdeletion Syndrome |
|
Kyphosis, Craniosynostosis, Scoliosis, Short neck |
ORPHA:254346 |
| Distal Deletion 10Q |
|
Prominent metopic ridge, Lumbar hyperlordosis, Craniosynostosis, Hip dislocation, Spina bifida oc... |
ORPHA:96148 |
| Pseudoxanthoma Elasticum, Forme Fruste |
|
Kyphosis, Scoliosis |
OMIM:177850 |
| Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome |
|
Kyphosis, Scoliosis, Genu varum |
ORPHA:1969 |
| Brown-Vialetto-Van Laere Syndrome 1 |
|
Ankle clonus, Kyphosis, Scoliosis |
OMIM:211530 |
| Mucopolysaccharidosis, Type Vi |
|
Lumbar hyperlordosis, Ovoid vertebral bodies, Kyphoscoliosis, Anterior wedging of L2, Hypoplasia ... |
OMIM:253200 |
| Cartilage-Hair Hypoplasia |
|
Abnormally ossified vertebrae, Biconvex vertebral bodies, Sacral dimple, Hyperlordosis, Short nec... |
ORPHA:175 |
| Cleft Lip/Palate-Ectodermal Dysplasia Syndrome |
|
Hyperlordosis |
ORPHA:3253 |
| Ring Chromosome 12 Syndrome |
|
Lumbar hyperlordosis, Symphalangism of the thumb |
ORPHA:1439 |
| Cockayne Syndrome Type 2 |
|
Kyphosis, Scoliosis |
ORPHA:90322 |
| Koolen-De Vries Syndrome |
|
Vertebral fusion, Kyphosis, Hip dislocation, Vertebral segmentation defect, Scoliosis |
ORPHA:96169 |
| Trisomy 20P |
|
Camptodactyly of finger, Short neck, Kyphosis, Abnormal form of the vertebral bodies, Vertebral s... |
ORPHA:261318 |
| Split Cord Malformation |
|
Back pain, Abnormal thoracic spine morphology, Low back pain, Kyphoscoliosis, Hyperlordosis, Hemi... |
ORPHA:573278 |
| Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome |
|
Hip contracture, Calcification of the auricular cartilage, Kyphosis, Abnormal form of the vertebr... |
ORPHA:3042 |
| Trisomy 13 |
|
Kyphosis, Scoliosis |
ORPHA:3378 |
| Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
|
Kyphosis, Scoliosis |
ORPHA:404440 |
| 3C Syndrome |
|
Kyphosis, Hemivertebrae, Scoliosis, Short neck |
ORPHA:7 |
| Congenital Fiber-Type Disproportion Myopathy |
|
Hip contracture, Congenital hip dislocation, Kyphoscoliosis, Hyperlordosis, Ankle flexion contrac... |
ORPHA:2020 |
| X-Linked Intellectual Disability, Cabezas Type |
|
Camptodactyly of finger, Short neck, Kyphosis, Scoliosis, Cubitus valgus |
ORPHA:85293 |
| Megalocornea-Intellectual Disability Syndrome |
|
Kyphosis, Scoliosis, Genu varum |
ORPHA:2479 |
| Jaberi-Elahi Syndrome |
|
Kyphosis, Scoliosis |
OMIM:617988 |
| Alexander Disease |
|
Hyperlordosis, Kyphosis, Scoliosis, Short neck |
ORPHA:58 |
| Campomelic Dysplasia |
|
Poorly ossified cervical vertebrae, Short neck, Kyphosis, Hip dislocation, Scoliosis |
ORPHA:140 |
| Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation |
|
Kyphosis, Scoliosis, Hyperlordosis |
OMIM:617011 |
| Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism |
|
Kyphosis |
OMIM:619244 |
| Emanuel Syndrome |
|
Kyphosis, Sacral dimple, Congenital hip dislocation, Scoliosis |
OMIM:609029 |
| Familial Osteodysplasia, Anderson Type |
|
Elbow dislocation, Kyphosis, Scoliosis, Abnormal form of the vertebral bodies |
ORPHA:2769 |
| Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly |
|
Kyphosis, Scoliosis |
OMIM:617061 |
| Gaucher Disease Type 1 |
|
Kyphosis, Vertebral compression fracture, Osteoarthritis |
ORPHA:77259 |
| Cowden Syndrome 5 |
|
Kyphosis, Scoliosis |
OMIM:615108 |
| Classical-Like Ehlers-Danlos Syndrome Type 2 |
|
Joint dislocation, Thoracic scoliosis, Sacral dimple, Phalangeal dislocation, Kyphoscoliosis, Elb... |
ORPHA:536532 |
| Loeys-Dietz Syndrome 3 |
|
Protrusio acetabuli, Craniosynostosis, Osteoarthritis, Knee osteoarthritis, Cervical spine instab... |
OMIM:613795 |
| Martsolf Syndrome 1 |
|
Talipes valgus, Thoracic scoliosis, Lumbar hyperlordosis |
OMIM:212720 |
| Weill-Marchesani Syndrome 1 |
|
Lumbar hyperlordosis, Spinal canal stenosis, Scoliosis |
OMIM:277600 |
| Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction |
|
Short neck, Kyphosis, Hemivertebrae, Contracture of the proximal interphalangeal joint of the 4th... |
OMIM:618223 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18 |
|
Scoliosis, Hyperlordosis |
OMIM:615356 |
| Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome |
|
Tarsal synostosis, Kyphosis, Wide anterior fontanel, Coronal craniosynostosis, Delayed cranial su... |
ORPHA:85199 |
| Pigmented Nodular Adrenocortical Disease, Primary, 1 |
|
Kyphosis |
OMIM:610489 |
| Noonan Syndrome 14 |
|
Cubitus valgus, Kyphosis, Limited elbow extension, Short neck |
OMIM:619745 |
| Cowden Syndrome 6 |
|
Kyphosis, Scoliosis |
OMIM:615109 |
| Intellectual Developmental Disorder, Autosomal Dominant 29 |
|
Lumbar hyperlordosis, Hyperlordosis |
OMIM:616078 |
| Micro Syndrome |
|
Kyphosis, Scoliosis |
ORPHA:2510 |
| Distal Triplication 15Q |
|
Kyphosis, Craniosynostosis, Scoliosis |
ORPHA:314588 |
| Spondyloepimetaphyseal Dysplasia, X-Linked |
|
Lumbar hyperlordosis, Hypoplasia of the odontoid process, Kyphosis, Genu varum, Anterior wedging ... |
OMIM:300106 |
| Ectodermal Dysplasia, Sensorineural Hearing Loss, And Distinctive Facial Features |
|
Kyphosis |
OMIM:609944 |
| Cardiofacioneurodevelopmental Syndrome |
|
Kyphosis |
OMIM:619123 |
| Opitz-Kaveggia Syndrome |
|
Sacral dimple, Lumbar hyperlordosis, Delayed closure of the anterior fontanelle, Short neck, Wide... |
OMIM:305450 |
| Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Kyphosis, Scoliosis |
OMIM:616449 |
| Spondyloenchondrodysplasia |
|
Kyphosis, Platyspondyly, Juvenile rheumatoid arthritis, Arthritis |
ORPHA:1855 |
| Multiple Pterygium-Malignant Hyperthermia Syndrome |
|
Kyphosis, Prominent metopic ridge, Camptodactyly of finger, Scoliosis |
ORPHA:2215 |
| Hurler Syndrome |
|
Short neck, Hypoplasia of the odontoid process, Kyphosis, Biconcave vertebral bodies, C1-C2 sublu... |
OMIM:607014 |
| Ramon Syndrome |
|
Kyphosis, Juvenile rheumatoid arthritis, Scoliosis |
OMIM:266270 |
| Koolen-De Vries Syndrome |
|
Vertebral fusion, Sacral dimple, Prominent metopic ridge, Kyphosis, Hip dislocation, Scoliosis, S... |
OMIM:610443 |
| Acrocapitofemoral Dysplasia |
|
Lumbar hyperlordosis, Ovoid vertebral bodies, Delayed ossification of carpal bones, Scoliosis, Ge... |
OMIM:607778 |
| Satb2-Associated Syndrome Due To A Chromosomal Rearrangement |
|
Abnormality of the knee, Lumbar hyperlordosis, Short neck |
ORPHA:251028 |
| Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
|
Scoliosis, Hyperlordosis |
ORPHA:258 |
| Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies |
|
Arthritis, Hyperlordosis |
ORPHA:221139 |
| Rett Syndrome, Congenital Variant |
|
Kyphosis, Scoliosis |
OMIM:613454 |
| Digeorge Syndrome |
|
Pilonidal sinus, Patellar dislocation, Scoliosis, Intervertebral disc degeneration |
OMIM:188400 |
| 2Q31.1 Microdeletion Syndrome |
|
Prominent metopic ridge, Camptodactyly of finger, Short neck, Kyphosis, Vertebral segmentation de... |
ORPHA:251014 |
| Hallermann-Streiff Syndrome |
|
Wormian bones, Scoliosis, Hyperlordosis |
OMIM:234100 |
| Coffin-Lowry Syndrome |
|
Kyphosis, Scoliosis, Abnormal form of the vertebral bodies |
ORPHA:192 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies |
|
Genu valgum, Limited elbow extension, Hip dislocation, Hyperlordosis |
OMIM:301066 |
| Frank-Ter Haar Syndrome |
|
Anterior concavity of thoracic vertebrae, Kyphoscoliosis, Kyphosis, Wide anterior fontanel, Promi... |
OMIM:249420 |
| 2P15P16.1 Microdeletion Syndrome |
|
Prominent metopic ridge, Camptodactyly of finger, Kyphosis, Patellar dislocation, Scoliosis |
ORPHA:261349 |
| Atypical Werner Syndrome |
|
Chondrocalcinosis, Intervertebral disc degeneration |
ORPHA:79474 |
| 16Q24.3 Microdeletion Syndrome |
|
Kyphosis, Scoliosis |
ORPHA:261250 |
| Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Kyphosis, Kyphoscoliosis, Hemivertebrae, Scoliosis |
OMIM:301040 |
| Intellectual Developmental Disorder, Autosomal Dominant 57 |
|
Kyphosis, Contracture of the proximal interphalangeal joint of the 4th finger, Craniosynostosis, ... |
OMIM:618050 |
| Congenital Heart Defects And Skeletal Malformations Syndrome |
|
Kyphosis, Scoliosis |
OMIM:617602 |
| Camurati-Engelmann Disease |
|
Hyperlordosis, Kyphosis, Genu valgum, Abnormality of the vertebral column, Scoliosis |
ORPHA:1328 |
| Alstrom Syndrome |
|
Kyphosis, Scoliosis |
OMIM:203800 |
| Hao-Fountain Syndrome Due To 16P13.2 Microdeletion |
|
Kyphosis, Scoliosis |
ORPHA:500055 |
| Cowden Syndrome 1 |
|
Kyphosis, Scoliosis |
OMIM:158350 |
| Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome |
|
Kyphosis, Scoliosis |
ORPHA:476126 |
| Mucopolysaccharidosis, Type Ii |
|
Kyphosis, Short neck |
OMIM:309900 |
| Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome |
|
Kyphosis, Lumbar hyperlordosis, Contracture of the proximal interphalangeal joint of the 5th finger |
ORPHA:2232 |
| Paget Disease Of Bone 5, Juvenile-Onset |
|
Kyphosis |
OMIM:239000 |
| Iniencephaly |
|
Absent vertebra, Hyperlordosis |
ORPHA:63259 |
| Sponastrime Dysplasia |
|
Lumbar hyperlordosis, Kyphoscoliosis, Hip dislocation, Genu valgum, Hyperconvex vertebral body en... |
ORPHA:93357 |
| Distal 22Q11.2 Microdeletion Syndrome |
|
Camptodactyly of finger, Hyperlordosis |
ORPHA:261330 |
| Cohen Syndrome |
|
Cubitus valgus, Kyphosis, Scoliosis, Genu valgum |
ORPHA:193 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 33 |
|
Sacral dimple, Short neck, Kyphosis, Prominent protruding coccyx, Prominent coccyx, Scoliosis |
OMIM:300966 |
| Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Lumbar kyphosis, Lumbar hyperlordosis, Thoracic kyphosis, Short neck |
ORPHA:505248 |
| Occipital Horn Syndrome |
|
Persistent open anterior fontanelle, Kyphosis, Capitate-hamate fusion, Genu valgum, Platyspondyly... |
OMIM:304150 |
| Marfanoid-Progeroid-Lipodystrophy Syndrome |
|
Kyphosis, Craniosynostosis |
OMIM:616914 |
| Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome |
|
Metopic synostosis, Kyphosis, Lumbar hyperlordosis, Kyphoscoliosis |
ORPHA:457359 |
| Monosomy 9Q22.3 |
|
Kyphosis, Abnormality of the vertebral column, Metopic synostosis, Short neck |
ORPHA:77301 |
| Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome |
|
Lumbar hyperlordosis, Scoliosis |
ORPHA:522077 |
| Koolen-De Vries Syndrome Due To A Point Mutation |
|
Joint dislocation, Sacral dimple, Craniosynostosis, Hyperlordosis, Kyphosis, Scoliosis, Spondylol... |
ORPHA:363965 |
| 17Q21.31 Microdeletion Syndrome |
|
Joint dislocation, Sacral dimple, Craniosynostosis, Hyperlordosis, Kyphosis, Scoliosis, Spondylol... |
ORPHA:363958 |
| Neurofacioskeletal Syndrome With Or Without Renal Agenesis |
|
Hip contracture, Short neck, Prominent crus of helix, Kyphosis, Elbow flexion contracture, Knee f... |
OMIM:619194 |
| Weaver Syndrome |
|
Kyphosis, Scoliosis, Limited knee extension, Joint contracture of the hand, Limited elbow extension |
OMIM:277590 |
| Weill-Marchesani Syndrome 2 |
|
Lumbar hyperlordosis, Elbow flexion contracture, Spinal canal stenosis, Scoliosis |
OMIM:608328 |
| Gastrointestinal Defects And Immunodeficiency Syndrome 2 |
|
Kyphosis, Knee flexion contracture |
OMIM:619708 |
| Aspartylglucosaminuria |
|
Kyphosis, Platyspondyly, Spondylolysis, Scoliosis, Beaking of vertebral bodies, Spondylolisthesis |
OMIM:208400 |
| Cleidocranial Dysplasia 1 |
|
Persistent open anterior fontanelle, Kyphosis, Hip dislocation, Spondylolysis, Scoliosis, Wormian... |
OMIM:119600 |
| Lymphedema-Distichiasis Syndrome |
|
Kyphosis |
OMIM:153400 |
| Poland Syndrome |
|
Short neck, Kyphosis, Hemivertebrae, Finger symphalangism, Vertebral segmentation defect, Scolios... |
ORPHA:2911 |
| Triosephosphate Isomerase Deficiency |
|
Kyphosis |
OMIM:615512 |
| Classic Homocystinuria |
|
Kyphosis, Scoliosis, Genu valgum |
ORPHA:394 |
| Atelis Syndrome 2 |
|
Kyphosis, Sacral dimple |
OMIM:620185 |
| Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction |
|
Kyphosis, Scoliosis |
OMIM:619482 |
| Robinow Syndrome, Autosomal Dominant 3 |
|
Kyphosis, Sacral dimple, Scoliosis, Short neck |
OMIM:616894 |
| Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia |
|
Kyphosis, Scoliosis |
OMIM:619005 |
| Mgat2-Cdg |
|
Kyphosis, Scoliosis |
ORPHA:79329 |
| Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Contracture of the proximal interphalangeal joint of the 3rd finger, Kyphosis, Scoliosis |
ORPHA:464738 |
| Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
|
Kyphosis |
OMIM:617527 |
| Plaa-Associated Neurodevelopmental Disorder |
|
Kyphosis |
ORPHA:521426 |
| Mucolipidosis Type Ii |
|
Hip contracture, Prominent metopic ridge, Craniosynostosis, Limited wrist movement, Kyphosis, Hip... |
ORPHA:576 |
| Marshall-Smith Syndrome |
|
Thoracic scoliosis, Kyphoscoliosis, Craniosynostosis, Hypoplasia of the odontoid process, Kyphosi... |
OMIM:602535 |
| Multiple Endocrine Neoplasia Type 2 |
|
Kyphoscoliosis, Hyperlordosis |
ORPHA:653 |
| Autosomal Recessive Spastic Paraplegia Type 35 |
|
Ankle clonus, Kyphosis |
ORPHA:171629 |
| Autosomal Recessive Robinow Syndrome |
|
Sacral dimple, Camptodactyly of finger, Short neck, Elbow dislocation, Kyphosis, Vertebral segmen... |
ORPHA:1507 |
| Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Scoliosis, Hyperlordosis |
ORPHA:365 |
| Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3 |
|
Sacral dimple, Short neck, Scoliosis, Hyperlordosis |
OMIM:619950 |
| Stickler Syndrome |
|
Joint dislocation, Protrusio acetabuli, Kyphosis, Osteoarthritis, Hip dislocation, Spinal canal s... |
ORPHA:828 |
| Marden-Walker Syndrome |
|
Camptodactyly of finger, Kyphosis, Abnormal form of the vertebral bodies, Radioulnar synostosis, ... |
ORPHA:2461 |
| Hajdu-Cheney Syndrome |
|
Short neck, Hypoplastic 5th lumbar vertebrae, Kyphosis, Patellar dislocation, Scoliosis, Wormian ... |
ORPHA:955 |
| Occipital Horn Syndrome |
|
Kyphosis, Hip dislocation, Genu valgum, Platyspondyly, Scoliosis, Abnormality of the wrist, Synos... |
ORPHA:198 |
| Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Ankle flexion contracture, Kyphosis, Scoliosis, Flexion contracture of finger, Abnormality of the... |
ORPHA:464311 |
| Magel2-Related Prader-Willi-Like Syndrome |
|
Kyphosis, Scoliosis |
ORPHA:398069 |
| Helsmoortel-Van Der Aa Syndrome |
|
Genu valgum, Scoliosis, Hyperlordosis |
OMIM:615873 |
| Mend Syndrome |
|
Kyphosis, Sacral dimple, Wide anterior fontanel |
ORPHA:401973 |
| Congenital Disorder Of Glycosylation, Type Ia |
|
Kyphosis |
OMIM:212065 |
| Prader-Willi Syndrome |
|
Kyphosis, Scoliosis, Genu valgum |
OMIM:176270 |
| Cerebrocostomandibular Syndrome |
|
Kyphosis |
ORPHA:1393 |
| Wolf-Hirschhorn Syndrome |
|
Sacral dimple, Kyphosis, Abnormal form of the vertebral bodies, Abnormality of the vertebral colu... |
ORPHA:280 |
| Lowe Oculocerebrorenal Syndrome |
|
Camptodactyly of finger, Wrist swelling, Kyphosis, Hip dislocation, Genu valgum, Platyspondyly, S... |
OMIM:309000 |
| Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
|
Lumbar hyperlordosis, Scoliosis |
OMIM:616975 |
| Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion |
|
Kyphoscoliosis, Genu valgum, Scoliosis, Hyperlordosis |
ORPHA:363700 |
| Osteogenesis Imperfecta |
|
Cervical kyphosis, Protrusio acetabuli, Kyphosis, Osteoarthritis, Vertebral compression fracture,... |
ORPHA:666 |
| Wrinkly Skin Syndrome |
|
Congenital hip dislocation, Delayed closure of the anterior fontanelle, Kyphosis, Wide anterior f... |
OMIM:278250 |
| Lenz-Majewski Hyperostotic Dwarfism |
|
Kyphosis, Elbow ankylosis, Delayed cranial suture closure, Scoliosis |
ORPHA:2658 |
| Dyrk1A-Related Intellectual Disability Syndrome |
|
Kyphosis, Abnormality of the cervical spine, Scoliosis |
ORPHA:464306 |
| Mend Syndrome |
|
Kyphosis, Sacral dimple |
OMIM:300960 |
| X-Linked Intellectual Disability, Snyder Type |
|
Kyphosis, Kyphoscoliosis |
ORPHA:3063 |
| Williams Syndrome |
|
Sacral dimple, Hyperlordosis, Kyphosis, Abnormal form of the vertebral bodies, Genu valgum, Verte... |
ORPHA:904 |
| Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome |
|
Hyperlordosis |
ORPHA:73223 |
| Marfan Syndrome |
|
Arthralgia/arthritis, Protrusio acetabuli, Limited elbow movement, Kyphosis, Scoliosis, Spondylol... |
ORPHA:558 |
| Turnpenny-Fry Syndrome |
|
Thoracic kyphoscoliosis, Wide anterior fontanel, Lumbar hyperlordosis |
OMIM:618371 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Kyphosis, Kyphoscoliosis, Scoliosis, Synostosis of the proximal phalanx of the thumb with the 1st... |
OMIM:300967 |
| Zttk Syndrome |
|
Craniosynostosis, Kyphosis, Hemivertebrae, Scoliosis |
OMIM:617140 |
| Smith-Lemli-Opitz Syndrome |
|
Short neck, Kyphosis, Hip dislocation, Abnormal form of the vertebral bodies, Scoliosis |
ORPHA:818 |
| Oculocerebrorenal Syndrome Of Lowe |
|
Kyphosis, Hip dislocation, Genu valgum, Arthritis, Platyspondyly, Joint swelling, Patellar disloc... |
ORPHA:534 |
| Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Hip contracture, Sacral dimple, Thoracolumbar scoliosis, Hyperlordosis, Multiple joint dislocatio... |
OMIM:619503 |
| Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Lumbar hyperlordosis, Kyphoscoliosis, Sagittal craniosynostosis, Hemivertebrae, Metopic synostosis |
ORPHA:500150 |
| Cowden Syndrome |
|
Kyphosis, Scoliosis |
ORPHA:201 |
| Wolf-Hirschhorn Syndrome |
|
Vertebral fusion, Sacral dimple, Kyphosis, Hip dislocation, Abnormal form of the vertebral bodies... |
OMIM:194190 |
| Cockayne Syndrome Type 3 |
|
Kyphosis, Scoliosis |
ORPHA:90324 |
| Coffin-Lowry Syndrome |
|
Kyphosis, Delayed closure of the anterior fontanelle, Scoliosis, Lumbar kyphosis |
OMIM:303600 |
| Acromegaly |
|
Kyphosis, Osteoarthritis, Joint swelling, Spinal canal stenosis |
ORPHA:963 |
| Branchiooculofacial Syndrome |
|
Hyperlordosis, Short neck, Kyphosis, Elbow flexion contracture, Fusion of middle ear ossicles |
OMIM:113620 |
| Somatomammotropinoma |
|
Kyphosis, Osteoarthritis, Joint swelling, Spinal canal stenosis |
ORPHA:314769 |
| Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
|
Kyphosis, Sacral dimple, Osteochondrosis, Scoliosis |
ORPHA:268261 |
| Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
|
Camptodactyly of finger, Kyphosis, Platyspondyly, Abnormality of the vertebral column, Abnormal v... |
ORPHA:2273 |
| Neurofibromatosis Type 1 |
|
Kyphosis, Genu valgum, Scoliosis, Genu varum |
ORPHA:636 |
| Cockayne Syndrome A |
|
Hip contracture, Kyphosis |
OMIM:216400 |
| Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Back pain, Kyphosis, Genu valgum, Abnormal curvature of the vertebral column, Scoliosis |
OMIM:619475 |
| Cockayne Syndrome B |
|
Kyphosis |
OMIM:133540 |
| 1P36 Deletion Syndrome |
|
Camptodactyly of finger, Kyphosis, Spinal canal stenosis, Scoliosis, Delayed cranial suture closure |
ORPHA:1606 |
| Coffin-Siris Syndrome 1 |
|
Sacral dimple, Aplasia/Hypoplasia of the patella, Kyphosis, Scoliosis, Spina bifida occulta, Disl... |
OMIM:135900 |
| Cockayne Syndrome |
|
Kyphosis, Scoliosis |
ORPHA:191 |
| Proteus Syndrome |
|
Craniosynostosis, Kyphosis, Hip dislocation, Abnormal form of the vertebral bodies, Scoliosis, Ab... |
ORPHA:744 |
| Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Short neck, Kyphosis, Madelung deformity, Neck pterygia, Genu valgum, Scoliosis, Cubitus valgus |
ORPHA:99413 |
| Turner Syndrome |
|
Short neck, Kyphosis, Madelung deformity, Neck pterygia, Genu valgum, Scoliosis, Cubitus valgus |
ORPHA:881 |
| Mosaic Monosomy X |
|
Short neck, Kyphosis, Madelung deformity, Neck pterygia, Genu valgum, Scoliosis, Cubitus valgus |
ORPHA:99228 |
| Monosomy X |
|
Short neck, Kyphosis, Madelung deformity, Neck pterygia, Genu valgum, Scoliosis, Cubitus valgus |
ORPHA:99226 |
| 17Q11 Microdeletion Syndrome |
|
Kyphosis, Abnormality of the vertebral column, Beaking of vertebral bodies T12-L3, Scoliosis |
ORPHA:97685 |
| Primrose Syndrome |
|
Hip contracture, Calcification of the auricular cartilage, Kyphosis, Knee flexion contracture, Ge... |
OMIM:259050 |
| Sotos Syndrome |
|
Hip contracture, Sacrococcygeal teratoma, Ankle flexion contracture, Craniosynostosis, Kyphosis, ... |
ORPHA:821 |
| Microphthalmia, Syndromic 1 |
|
Joint contracture of the hand, Kyphoscoliosis, Lumbar hyperlordosis, Scoliosis |
OMIM:309800 |
| Viss Syndrome |
|
Recurrent joint dislocation, Kyphosis, Hip dislocation, Genu valgum, Scoliosis, Butterfly vertebrae |
OMIM:619472 |
| Yunis-Varon Syndrome |
|
Wide cranial sutures, Congenital hip dislocation, Anterior concavity of thoracic vertebrae, Kypho... |
OMIM:216340 |
| Alström Syndrome |
|
Kyphosis, Thoracic scoliosis, Lumbar scoliosis |
ORPHA:64 |
| Macular Dystrophy, Retinal, 4 |
|
|
OMIM:619977 |
