Scheuermann Disease |
|
Kyphosis, Osteochondrosis, Morbus Scheuermann |
OMIM:181440 |
Osteomesopyknosis |
|
Kyphosis, Increased bone mineral density, Scoliosis, Abnormal form of the vertebral bodies, Scler... |
ORPHA:2777 |
Familial Scheuermann Disease |
|
Kyphosis, Abnormal form of the vertebral bodies |
ORPHA:3135 |
Mental Retardation, X-Linked 82 |
|
Kyphosis, Scoliosis |
OMIM:300518 |
Sacral Agenesis With Vertebral Anomalies |
|
Abnormal vertebral morphology, Absence of the sacrum |
OMIM:615709 |
Parastremmatic Dwarfism |
|
Kyphosis, Flexion contracture, Short neck, Scoliosis, Genu valgum |
OMIM:168400 |
Dwarfism With Tall Vertebrae |
|
Increased vertebral height |
OMIM:126950 |
Brachyolmia Type 1, Hobaek Type |
|
Sclerotic foci of metaphyses of the elbow, Kyphosis, Squared-off platyspondyly, Back pain, Osteop... |
OMIM:271530 |
Cervical Vertebral Dysplasia |
|
Anterior atlanto-occipital dislocation, Cervical vertebral dysplasia, Cervical vertebral facet hy... |
OMIM:118005 |
Ankylosing Vertebral Hyperostosis With Tylosis |
|
Vertebral hyperostosis |
OMIM:106400 |
Winchester Syndrome |
|
Kyphosis, Osteolysis involving tarsal bones, Carpal osteolysis, Arthropathy, Generalized osteopor... |
OMIM:277950 |
Primary Basilar Invagination |
|
Abnormal vertebral morphology, Short neck, Abnormality of the cervical spine |
ORPHA:2285 |
Acromesomelic Dysplasia, Maroteaux Type |
|
Joint stiffness, Kyphosis, Beaking of vertebral bodies, Scoliosis, Abnormal form of the vertebral... |
ORPHA:40 |
Hip Dysplasia, Beukes Type |
|
Kyphosis, Abnormal bone ossification, Abnormal ossification involving the femoral head and neck, ... |
ORPHA:2114 |
Spondylocostal Dysostosis 3, Autosomal Recessive |
|
Vertebral segmentation defect, Kyphosis, Contracture of the proximal interphalangeal joint of the... |
OMIM:609813 |
Spondyloepiphyseal Dysplasia Tarda, Kohn Type |
|
Platyspondyly, Abnormality of the ankles, Abnormal vertebral morphology, Restricted large joint m... |
ORPHA:163665 |
Horizontal Gaze Palsy With Progressive Scoliosis |
|
Kyphosis, Short neck, Scoliosis |
ORPHA:2744 |
Gnathodiaphyseal Dysplasia |
|
Recurrent fractures, Mandibular osteomyelitis, Osteopenia, Scoliosis, Thickened cortex of long bones |
ORPHA:53697 |
Spondyloepiphyseal Dysplasia, Stanescu Type |
|
Joint stiffness, Kyphoscoliosis, Beaking of vertebral bodies, Platyspondyly, Stiff neck |
OMIM:616583 |
Osteoarthritis With Mild Chondrodysplasia |
|
Irregular vertebral endplates, Joint stiffness, Beaking of vertebral bodies, Platyspondyly, Hip o... |
OMIM:604864 |
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B |
|
Kyphosis, Scoliosis |
OMIM:617087 |
Spondylocostal Dysostosis 6, Autosomal Recessive |
|
Spinal canal stenosis, Butterfly vertebrae, Hemivertebrae, Scoliosis, Cervical kyphosis |
OMIM:616566 |
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type |
|
Irregular vertebral endplates, Decreased hip abduction, Lumbar hyperlordosis, Platyspondyly, Scol... |
OMIM:609223 |
Idiopathic Juvenile Osteoporosis |
|
Recurrent fractures, Kyphosis, Osteoporosis, Vertebral compression fracture |
ORPHA:85193 |
Myasthenic Syndrome, Congenital, 25, Presynaptic |
|
Kyphosis, Spinal rigidity, Flexion contracture, Scoliosis, Joint hypermobility |
OMIM:618323 |
Galactosialidosis |
|
Abnormal vertebral morphology, Abnormality of the vertebral column |
ORPHA:351 |
Autosomal Dominant Brachyolmia |
|
Increased vertebral height, Kyphoscoliosis, Platyspondyly |
ORPHA:93304 |
Bruck Syndrome 1 |
|
Hip contracture, Kyphosis, Platyspondyly, Scoliosis, Osteoporosis, Protrusio acetabuli, Joint lax... |
OMIM:259450 |
Multiple Epiphyseal Dysplasia Type 5 |
|
Joint stiffness, Decreased hip abduction, Back pain, Osteoarthritis of the small joints of the ha... |
ORPHA:93311 |
Osteomesopyknosis |
|
Low back pain, Increased bone mineral density |
OMIM:166450 |
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies |
|
Kyphosis, Camptodactyly |
OMIM:618453 |
Endosteal Hyperostosis, Worth Type |
|
Clavicular sclerosis, Abnormal form of the vertebral bodies, Generalized osteosclerosis, Scleroti... |
ORPHA:2790 |
Brachyolmia Type 1, Toledo Type |
|
Precocious costochondral ossification, Squared-off platyspondyly, Kyphoscoliosis, Irregular verte... |
OMIM:271630 |
Spastic Paraplegia 18, Autosomal Recessive |
|
Kyphosis, Scoliosis |
OMIM:611225 |
Spondyloepimetaphyseal Dysplasia, Di Rocco Type |
|
Delayed ossification of carpal bones, Reduced bone mineral density, Platyspondyly, Genu varum, Ir... |
OMIM:617974 |
Endosteal Hyperostosis, Autosomal Dominant |
|
Metacarpal diaphyseal endosteal sclerosis, Metatarsal diaphyseal endosteal sclerosis, Clavicular ... |
OMIM:144750 |
Spondylocamptodactyly Syndrome |
|
Camptodactyly of finger, Platyspondyly, Scoliosis |
ORPHA:3180 |
Congenital Amegakaryocytic Thrombocytopenia |
|
Abnormal form of the vertebral bodies, Short neck, Scoliosis, Decreased skull ossification |
ORPHA:3319 |
Neuronopathy, Distal Hereditary Motor, Type Viii |
|
Hip contracture, Kyphosis, Scoliosis, Hyperlordosis, Elbow flexion contracture, Knee flexion cont... |
OMIM:600175 |
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis |
|
Kyphoscoliosis, Joint laxity, Thoracolumbar kyphosis |
OMIM:236660 |
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset |
|
Kyphosis, Spinal rigidity, Flexion contracture, Short neck, Scoliosis, Hyperlordosis |
OMIM:300718 |
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
|
Kyphosis, Platyspondyly, Osteoporosis |
ORPHA:2786 |
Eiken Syndrome |
|
Delayed epiphyseal ossification, Abnormal bone ossification, Abnormal trabecular bone morphology,... |
ORPHA:79106 |
Bethlem Myopathy 2 |
|
Kyphosis, Flexion contracture, Scoliosis, Hip dislocation, Distal joint laxity |
OMIM:616471 |
Ossification Of The Posterior Longitudinal Ligament Of Spine |
|
Ectopic ossification, Abnormality of the vertebral column, Increased bone mineral density |
OMIM:602475 |
Dysspondyloenchondromatosis |
|
Vertebral segmentation defect, Enlarged joints, Kyphoscoliosis, Joint dislocation, Generalized jo... |
ORPHA:85198 |
Spondylosis, Cervical |
|
Spondylolisthesis, Spondylolysis, Osteoarthritis, Spina bifida occulta, Cervical spondylosis |
OMIM:184300 |
Epiphyseal Stippling-Osteoclastic Hyperplasia Syndrome |
|
Abnormal bone ossification, Genu varum, Coronal cleft vertebrae, Coarse metaphyseal trabeculariza... |
ORPHA:1952 |
Osteogenesis Imperfecta, Type Xix |
|
Recurrent fractures, Osteopenia, Scoliosis, Biconcave vertebral bodies, Vertebral wedging |
OMIM:301014 |
Spondyloepiphyseal Dysplasia, Kondo-Fu Type |
|
Kyphosis, Delayed ossification of carpal bones |
OMIM:618392 |
Epiphyseal Dysplasia, Multiple, 7 |
|
Advanced ossification of carpal bones, Platyspondyly, Genu varum, Flat acetabular roof, Vertebral... |
OMIM:617719 |
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1 |
|
Kyphosis, Joint subluxation, Osteopenia, Scoliosis, Congenital bilateral hip dislocation, Joint l... |
OMIM:130060 |
Bruck Syndrome |
|
Recurrent fractures, Joint stiffness, Kyphosis, Platyspondyly, Scoliosis, Osteoporosis, Wormian b... |
ORPHA:2771 |
Brachyolmia, Maroteaux Type |
|
Platyspondyly, Scoliosis, Abnormal form of the vertebral bodies |
ORPHA:93302 |
Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome |
|
Joint stiffness, Posterior fusion of lumbosacral vertebrae, Abnormal form of the vertebral bodies... |
ORPHA:2064 |
Mitochondrial Complex I Deficiency, Nuclear Type 11 |
|
Kyphosis, Scoliosis, Osteoporosis |
OMIM:618234 |
Brachydactylous Dwarfism, Mseleni Type |
|
Joint subluxation, Osteoarthritis of the elbow, Osteopenia, Platyspondyly, Abnormality of the ank... |
ORPHA:2619 |
Spondylometaphyseal Dysplasia, X-Linked |
|
Enlarged joints, Hip contracture, Sclerosis of skull base, Kyphosis, Hyperextensibility of the fi... |
OMIM:313420 |
Osteogenesis Imperfecta, Type Ix |
|
Recurrent fractures, Kyphosis, Decreased calvarial ossification, Platyspondyly, Scoliosis, Wormia... |
OMIM:259440 |
Cataract, Microcephaly, Failure To Thrive, Kyphoscoliosis Syndrome |
|
Hip dislocation, Kyphoscoliosis, Arthrogryposis multiplex congenita |
OMIM:212540 |
Metatropic Dysplasia |
|
Joint stiffness, Kyphosis, Coarse metaphyseal trabecularization, Camptodactyly of finger, Scolios... |
ORPHA:2635 |
Acrodysplasia Scoliosis |
|
Vertebral segmentation defect, Scoliosis, Spina bifida occulta |
ORPHA:2956 |
Osteogenesis Imperfecta, Type V |
|
Recurrent fractures, Limited pronation/supination of forearm, Anterior radial head dislocation, H... |
OMIM:610967 |
Symbrachydactyly Of Hands And Feet |
|
Vertebral segmentation defect, Scoliosis, Abnormality of the humeroulnar joint |
ORPHA:1570 |
Fibrosis Of Extraocular Muscles, Congenital, 3C |
|
Kyphosis |
OMIM:609384 |
Maternal Uniparental Disomy Of Chromosome 9 |
|
Hamstring contractures, Kyphoscoliosis, Elbow ankylosis, Short neck, Abnormal vertebral morpholog... |
ORPHA:96183 |
Osteogenesis Imperfecta, Type Vi |
|
Beaking of vertebral bodies, Biconcave vertebral bodies, Protrusio acetabuli, Joint laxity, Verte... |
OMIM:613982 |
Weismann-Netter Syndrome |
|
Horizontal sacrum, Kyphosis, Scoliosis, Calvarial hyperostosis |
OMIM:112350 |
Gm1-Gangliosidosis, Type Iii |
|
Kyphosis, Anterior beaking of lumbar vertebrae, Platyspondyly, Scoliosis, Hypoplastic acetabulae |
OMIM:230650 |
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome |
|
Abnormal vertebral morphology, Short neck |
ORPHA:2015 |
Intellectual Disability-Developmental Delay-Contractures Syndrome |
|
Kyphosis, Scoliosis, Limitation of joint mobility, Congenital foot contractures |
ORPHA:3454 |
Ghosal Hematodiaphyseal Dysplasia |
|
Abnormal cortical bone morphology, Abnormal form of the vertebral bodies, Craniofacial hyperostosis |
ORPHA:1802 |
Alkaptonuria |
|
Kyphosis, Intervertebral disc degeneration, Arthritis, Limitation of knee mobility, Low back pain... |
OMIM:203500 |
Kuskokwim Syndrome |
|
Joint stiffness, Aplasia/Hypoplasia of the patella, Scoliosis, Abnormal form of the vertebral bodies |
ORPHA:1149 |
Spinal Dysplasia, Anhalt Type |
|
Osteoarthritis of the small joints of the hand, Spinal dysplasia, Thoracolumbar scoliosis, Absent... |
OMIM:601344 |
X-Linked Intellectual Disability, Stocco Dos Santos Type |
|
Kyphosis, Congenital bilateral hip dislocation |
ORPHA:85288 |
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome |
|
Kyphosis, Cubitus valgus, Joint hyperflexibility |
ORPHA:1875 |
Spinal Muscular Atrophy, Ryukyuan Type |
|
Kyphoscoliosis |
OMIM:271200 |
Hereditary Sensory And Autonomic Neuropathy Type 2 |
|
Reduced bone mineral density, Foot acroosteolysis, Abnormality of the ankles, Wormian bones, Hype... |
ORPHA:970 |
Ichthyosis--Cheek--Eyebrow Syndrome |
|
Kyphoscoliosis |
OMIM:146720 |
Fetal Akinesia Deformation Sequence 4 |
|
Kyphosis, Flexion contracture, Short neck, Camptodactyly, Arthrogryposis multiplex congenita |
OMIM:618393 |
Spondylocostal Dysostosis 2, Autosomal Recessive |
|
Vertebral segmentation defect, Hemivertebrae, Short neck, Vertebral clefting |
OMIM:608681 |
Intellectual Developmental Disorder, X-Linked 19 |
|
Kyphoscoliosis, Scoliosis |
OMIM:300844 |
Progressive Pseudorheumatoid Dysplasia |
|
Joint stiffness, Kyphoscoliosis, Joint swelling, Joint contracture of the hand, Osteoarthritis, C... |
OMIM:208230 |
Spondylocostal Dysostosis 1, Autosomal Recessive |
|
Vertebral segmentation defect, Kyphoscoliosis, Back pain, Hemivertebrae, Short neck, Block verteb... |
OMIM:277300 |
Flynn-Aird Syndrome |
|
Joint stiffness, Kyphoscoliosis, Increased bone mineral density, Osteoporosis, Increased bone den... |
OMIM:136300 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type |
|
Kyphosis, Hip dislocation, Scoliosis |
OMIM:300434 |
Greenberg Dysplasia |
|
Abnormal bone ossification, Anterior rib punctate calcifications, Abnormally ossified vertebrae, ... |
ORPHA:1426 |
X-Linked Charcot-Marie-Tooth Disease Type 1 |
|
Kyphosis, Scoliosis |
ORPHA:101075 |
Shashi-Pena Syndrome |
|
Kyphosis, Scoliosis, Osteoporosis |
OMIM:617190 |
Spondyloepiphyseal Dysplasia Tarda |
|
Abnormally ossified vertebrae, Platyspondyly, Short neck, Biconcave vertebral bodies, Abnormal ca... |
ORPHA:93284 |
Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures |
|
Kyphoscoliosis, Flexion contracture |
OMIM:617977 |
Osteopetrosis, Autosomal Dominant 2 |
|
Recurrent fractures, Mandibular osteomyelitis, Osteopetrosis, Fractures of the long bones, Abnorm... |
OMIM:166600 |
Hall-Riggs Mental Retardation Syndrome |
|
Irregular vertebral endplates, Kyphosis, Platyspondyly, Scoliosis, Osteoporosis |
OMIM:234250 |
Heart Defects-Limb Shortening Syndrome |
|
Kyphosis, Abnormal form of the vertebral bodies |
ORPHA:1354 |
Diastrophic Dysplasia |
|
Hip contracture, Kyphoscoliosis, Lumbar hyperlordosis, Costal cartilage calcification, Scoliosis,... |
OMIM:222600 |
Osteogenesis Imperfecta, Type Xi |
|
Kyphoscoliosis, Osteopenia, Scoliosis, Biconcave vertebral bodies, Protrusio acetabuli, Joint lax... |
OMIM:610968 |
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome |
|
Joint stiffness, Kyphosis, Scoliosis |
ORPHA:1548 |
Acropectorovertebral Dysplasia |
|
Spina bifida occulta at L5, Synostosis of carpal bones, Spina bifida occulta at S1, Abnormal vert... |
OMIM:102510 |
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant |
|
Kyphosis, Flexion contracture, Congenital hip dislocation, Scoliosis, Arthrogryposis multiplex co... |
OMIM:618291 |
Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant |
|
Irregular vertebral endplates, Kyphoscoliosis, Lumbar hyperlordosis, Platyspondyly, Short neck, A... |
OMIM:184100 |
Fibrodysplasia Ossificans Progressiva |
|
Spinal rigidity, Synostosis of joints, Ectopic ossification in ligament tissue, Abnormal vertebra... |
ORPHA:337 |
Sillence Syndrome |
|
Back pain, Intervertebral disc degeneration, Platyspondyly, Scoliosis, Camptodactyly, Abnormal ve... |
ORPHA:3168 |
X-Linked Charcot-Marie-Tooth Disease Type 4 |
|
Kyphosis, Scoliosis |
ORPHA:101078 |
Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes |
|
Irregular vertebral endplates, Kyphoscoliosis, Platyspondyly, Lumbar scoliosis |
OMIM:612847 |
Duchenne And Becker Muscular Dystrophy |
|
Joint stiffness, Scoliosis, Hyperlordosis, Reduced bone mineral density |
ORPHA:262 |
Osteogenesis Imperfecta, Type Iv |
|
Recurrent fractures, Kyphosis, Reduced bone mineral density, Biconcave flattened vertebrae, Scoli... |
OMIM:166220 |
Klippel-Feil Syndrome 3, Autosomal Dominant |
|
Cervical C5/C6 vertebrae fusion, Cervical C3/C4 vertebral fusion, Thoracic scoliosis |
OMIM:613702 |
Smith-Mccort Dysplasia 1 |
|
Multicentric femoral head ossification, Kyphosis, Beaking of vertebral bodies, Hypoplastic acetab... |
OMIM:607326 |
Intermediate Osteopetrosis |
|
Sandwich appearance of vertebral bodies, Recurrent fractures, Cortical sclerosis, Osteomyelitis, ... |
ORPHA:210110 |
Osteogenesis Imperfecta, Type Iii |
|
Recurrent fractures, Kyphosis, Wide anterior fontanel, Decreased calvarial ossification, Biconcav... |
OMIM:259420 |
Spondyloepiphyseal Dysplasia Tarda, X-Linked |
|
Kyphosis, Hump-shaped mound of bone in central and posterior portions of vertebral endplate, Lumb... |
OMIM:313400 |
Spinocerebellar Ataxia, Autosomal Recessive 8 |
|
Kyphosis, Scoliosis |
OMIM:610743 |
Cervical Hypertrichosis With Underlying Kyphoscoliosis |
|
Kyphoscoliosis |
OMIM:117850 |
Osteogenesis Imperfecta, Type Xiii |
|
Dislocated radial head, Kyphoscoliosis, Increased bone mineral density, Platyspondyly, Scoliosis,... |
OMIM:614856 |
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy |
|
Kyphoscoliosis |
OMIM:619099 |
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures |
|
Kyphosis, Lumbar hyperlordosis, Scoliosis, Hip dislocation |
OMIM:616756 |
Metatropic Dysplasia |
|
Enlarged joints, Kyphosis, Kyphoscoliosis, Relatively short spine, Flexion contracture, Platyspon... |
OMIM:156530 |
Masa Syndrome |
|
Kyphosis, Hyperlordosis |
OMIM:303350 |
Autosomal Recessive Spastic Paraplegia Type 53 |
|
Kyphosis, Joint hyperflexibility |
ORPHA:319199 |
Autosomal Recessive Hypophosphatemic Rickets |
|
Rickets of the lower limbs, Pseudo-fractures, Hypophosphatemic rickets, Spinal canal stenosis, In... |
ORPHA:289176 |
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor |
|
Rickets of the lower limbs, Delayed epiphyseal ossification, Sparse bone trabeculae, Genu varum, ... |
OMIM:600785 |
Osteogenesis Imperfecta, Type Xiv |
|
Recurrent fractures, Osteopenia, Scoliosis, Increased susceptibility to fractures |
OMIM:615066 |
Marfanoid Habitus With Microcephaly And Glomerulonephritis |
|
Kyphosis, Joint laxity |
OMIM:248760 |
Ck Syndrome |
|
Kyphosis, Scoliosis, Hyperlordosis, Joint hypermobility, Abnormal cortical bone morphology |
OMIM:300831 |
Richieri Costa-Da Silva Syndrome |
|
Beaking of vertebral bodies, Kyphoscoliosis, Genu valgum, Generalized bone demineralization, Decr... |
ORPHA:3101 |
Osteogenesis Imperfecta, Type Xxii |
|
Recurrent fractures, Reduced bone mineral density, Wormian bones, Thin bony cortex, Multiple smal... |
OMIM:619795 |
Sprengel Deformity |
|
Hemivertebrae, Cervical segmentation defect, Scoliosis, Spina bifida occulta |
OMIM:184400 |
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers |
|
Kyphosis, Scoliosis |
ORPHA:276630 |
Microcephalic Primordial Dwarfism, Montreal Type |
|
Vertebral segmentation defect, Kyphosis, Scoliosis, Reduced bone mineral density |
ORPHA:2617 |
Spondyloepimetaphyseal Dysplasia With Multiple Dislocations |
|
Laryngotracheomalacia, Delayed epiphyseal ossification, Kyphosis, Kyphoscoliosis, Generalized joi... |
ORPHA:93360 |
Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Delayed epiphyseal ossification, Kyphosis, Lumbar hyperlordosis, Coronal cleft vertebrae, Increas... |
ORPHA:93314 |
Congenital Muscular Dystrophy, Ullrich Type |
|
Kyphosis, Spinal rigidity, Increased laxity of fingers, Flexion contracture, Short neck, Scoliosi... |
ORPHA:75840 |
Widow'S Peak Syndrome |
|
Hip osteoarthritis, Kyphosis, Arthralgia/arthritis, Recurrent patellar dislocation |
OMIM:314570 |
Sandhoff Disease |
|
Kyphosis |
ORPHA:796 |
Orofaciodigital Syndrome Xi |
|
Kyphoscoliosis, Hypoplasia of the odontoid process |
OMIM:612913 |
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome |
|
Kyphosis, Camptodactyly of finger, Scoliosis, Osteoporosis, Abnormality of the cervical spine |
ORPHA:48431 |
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant |
|
Hip contracture, Kyphosis, Scoliosis, Hyperlordosis, Knee flexion contracture, Achilles tendon co... |
OMIM:615290 |
Intellectual Developmental Disorder With Muscle Tone Abnormalities And Distal Skeletal Defects |
|
Kyphosis |
OMIM:620007 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity |
|
Beaking of vertebral bodies, Kyphoscoliosis, Dislocated radial head, Platyspondyly, Scoliosis, Li... |
ORPHA:93359 |
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita |
|
Kyphosis, Flexion contracture, Short neck, Scoliosis, Arthrogryposis multiplex congenita |
ORPHA:178148 |
Calvarial Doughnut Lesions With Bone Fragility |
|
Recurrent fractures, Osteopenia, Platyspondyly, Scoliosis, Osteoporosis |
OMIM:126550 |
Rhizomelic Syndrome, Urbach Type |
|
Kyphosis, Wide anterior fontanel, Short neck, Abnormal form of the vertebral bodies, Abnormality ... |
ORPHA:3098 |
Myopathic Ehlers-Danlos Syndrome |
|
Multiple joint contractures, Kyphosis, Kyphoscoliosis, Joint contracture of the hand, Flexion con... |
ORPHA:536516 |
Acrofacial Dysostosis, Palagonia Type |
|
Abnormal vertebral morphology, Hypoplasia of the odontoid process, Scoliosis, Spina bifida occult... |
OMIM:601829 |
Myofibrillar Myopathy 10 |
|
Kyphosis, Flexion contracture of finger, Elbow flexion contracture, Knee flexion contracture, Ank... |
OMIM:619040 |
Arthrogryposis, Distal, Type 4 |
|
Kyphosis, Osteopenia, Camptodactyly of 2nd-5th fingers, Scoliosis, Camptodactyly, Lumbar scoliosi... |
OMIM:609128 |
Spastic Paraplegia 53, Autosomal Recessive |
|
Kyphosis, Joint hyperflexibility |
OMIM:614898 |
Mucolipidosis Iii Gamma |
|
Kyphosis, Joint stiffness, Short neck, Scoliosis, Hyperlordosis, Genu valgum |
OMIM:252605 |
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome |
|
Kyphosis, Prominent metopic ridge, Scoliosis |
ORPHA:85317 |
Pseudoachondroplasia |
|
Limited hip extension, Delayed epiphyseal ossification, Kyphosis, Lumbar hyperlordosis, Beaking o... |
OMIM:177170 |
Mitochondrial Myopathy And Sideroblastic Anemia |
|
Kyphosis, Scoliosis |
ORPHA:2598 |
Brachyolmia Type 3 |
|
Short neck, Kyphosis, Platyspondyly, Scoliosis |
OMIM:113500 |
Weismann-Netter Syndrome |
|
Kyphosis, Abnormal cortical bone morphology, Scoliosis, Abnormal form of the vertebral bodies |
ORPHA:3344 |
Hydrocephaly-Tall Stature-Joint Laxity Syndrome |
|
Kyphosis, Scoliosis, Joint hyperflexibility, Shoulder dislocation |
ORPHA:2181 |
Spondylometaphyseal Dysplasia, Pagnamenta Type |
|
Thoracic kyphosis, Platyspondyly, Wormian bones, Thin bony cortex |
OMIM:619638 |
Borjeson-Forssman-Lehmann Syndrome |
|
Kyphosis, Cervical spinal canal stenosis, Scoliosis, Scheuermann-like vertebral changes |
OMIM:301900 |
Craniofacial Dysostosis With Diaphyseal Hyperplasia |
|
Kyphoscoliosis, Massively thickened long bone cortices |
OMIM:122900 |
Kleefstra Syndrome 2 |
|
Kyphosis, Scoliosis |
OMIM:617768 |
Loeys-Dietz Syndrome 6 |
|
Hip osteoarthritis, Intervertebral disc degeneration, Scoliosis, Knee osteoarthritis |
OMIM:619656 |
Disorder Of Sex Development-Intellectual Disability Syndrome |
|
Kyphosis, Reduced bone mineral density, Short neck, Spina bifida occulta, Genu valgum |
ORPHA:2983 |
Ehlers-Danlos Syndrome, Arthrochalasia Type, 2 |
|
Kyphosis, Joint subluxation, Hyperextensibility of the finger joints, Scoliosis, Wormian bones, H... |
OMIM:617821 |
Myotonia With Skeletal Abnormalities And Mental Retardation |
|
Kyphoscoliosis, Vertebral wedging, Genu valgum |
OMIM:255710 |
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome |
|
Kyphosis, Scoliosis |
ORPHA:1858 |
Joubert Syndrome 18 |
|
Kyphoscoliosis, Joint laxity, Camptodactyly |
OMIM:614815 |
Osteogenesis Imperfecta, Type Xvii |
|
Platyspondyly, Scoliosis, Osteoporosis, Vertebral compression fracture |
OMIM:616507 |
X-Linked Charcot-Marie-Tooth Disease Type 5 |
|
Kyphosis, Scoliosis |
ORPHA:99014 |
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome |
|
Kyphosis, Scoliosis |
ORPHA:2429 |
Osteogenesis Imperfecta, Type Viii |
|
Recurrent fractures, Kyphosis, Wide anterior fontanel, Osteopenia, Decreased calvarial ossificati... |
OMIM:610915 |
Arthrogryposis Multiplex Congenita 3, Myogenic Type |
|
Kyphosis, Kyphoscoliosis, Flexion contracture of finger, Flexion contracture, Scoliosis, Arthrogr... |
OMIM:618484 |
Mitochondrial Complex I Deficiency, Nuclear Type 15 |
|
Kyphosis, Flexion contracture |
OMIM:618237 |
Diastrophic Dysplasia |
|
Joint stiffness, Kyphosis, Joint dislocation, Increased bone mineral density, Camptodactyly of fi... |
ORPHA:628 |
Frank-Ter Haar Syndrome |
|
Kyphosis, Joint stiffness, Beaking of vertebral bodies, Genu recurvatum, Camptodactyly of finger,... |
ORPHA:137834 |
Ullrich Congenital Muscular Dystrophy 2 |
|
Kyphoscoliosis, Flexion contracture, Joint hypermobility |
OMIM:616470 |
Geroderma Osteodysplastica |
|
Recurrent fractures, Beaking of vertebral bodies, Abnormal bone ossification, Platyspondyly, Bico... |
ORPHA:2078 |
Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Enlarged joints, Kyphoscoliosis, Delayed ossification of carpal bones, Short neck, Platyspondyly,... |
OMIM:184252 |
Spondyloepiphyseal Dysplasia Congenita |
|
Kyphosis, Lumbar hyperlordosis, Atlantoaxial instability, Delayed calcaneal ossification, Short n... |
OMIM:183900 |
Mucopolysaccharidosis, Type Iva |
|
Kyphosis, Large elbow, Anterior beaking of lumbar vertebrae, Platyspondyly, Short neck, Osteoporo... |
OMIM:253000 |
Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Delayed epiphyseal ossification, Squared-off platyspondyly, Narrow vertebral interpedicular dista... |
ORPHA:93352 |
Spondyloepiphyseal Dysplasia Congenita |
|
Laryngotracheomalacia, Kyphosis, Lumbar hyperlordosis, Back pain, Spinal rigidity, Reduced bone m... |
ORPHA:94068 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
|
Recurrent fractures, Sparse bone trabeculae, Delayed epiphyseal ossification, Widely patent fonta... |
OMIM:600081 |
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type |
|
Laryngotracheomalacia, Delayed ossification of carpal bones, Abnormally ossified vertebrae, Cervi... |
ORPHA:93346 |
Cdkl5-Deficiency Disorder |
|
Kyphosis, Scoliosis |
ORPHA:505652 |
Lopes-Maciel-Rodan Syndrome |
|
Kyphosis, Ankle clonus, Scoliosis |
OMIM:617435 |
Joint Laxity, Short Stature, And Myopia |
|
Osteopenia, Kyphoscoliosis, Short neck |
OMIM:617662 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23 |
|
Kyphosis, Elbow flexion contracture |
OMIM:618138 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type |
|
Kyphosis, Scoliosis |
OMIM:300861 |
Sialidosis Type 2 |
|
Kyphosis, Osteoporosis, Flexion contracture |
ORPHA:87876 |
Congenital Arthrogryposis With Anterior Horn Cell Disease |
|
Kyphosis, Short neck, Scoliosis, Arthrogryposis multiplex congenita |
OMIM:611890 |
Mucopolysaccharidosis, Type Ivb |
|
Kyphosis, Platyspondyly, Scoliosis, Osteoporosis, Ulnar deviation of the wrist, Hyperlordosis, Ge... |
OMIM:253010 |
Ectodermal Dysplasia-Sensorineural Deafness Syndrome |
|
Kyphosis, Camptodactyly of finger, Scoliosis, Joint contracture of the 5th finger |
ORPHA:1883 |
O'Donnell-Luria-Rodan Syndrome |
|
Kyphosis |
OMIM:618512 |
Chst3-Related Skeletal Dysplasia |
|
Enlarged joints, Kyphoscoliosis, Flexion contracture, Scoliosis, Abnormal form of the vertebral b... |
ORPHA:263463 |
Geroderma Osteodysplasticum |
|
Irregular vertebral endplates, Recurrent fractures, Beaking of vertebral bodies, Kyphoscoliosis, ... |
OMIM:231070 |
Seckel Syndrome 8 |
|
Kyphoscoliosis |
OMIM:615807 |
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies |
|
Dislocation of the femoral head, Kyphosis, Hyperextensibility of the finger joints, Congenital hi... |
OMIM:619797 |
Hemifacial Atrophy, Progressive |
|
Kyphosis |
OMIM:141300 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5 |
|
Kyphosis, Scoliosis, Hyperlordosis, Vertebral fusion, Achilles tendon contracture |
OMIM:606612 |
Patterson Pseudoleprechaunism Syndrome |
|
Joint swelling, Kyphoscoliosis, Cervical platyspondyly, Ovoid thoracolumbar vertebrae, Irregular ... |
OMIM:169170 |
Crisponi Syndrome |
|
Kyphosis, Flexion contracture, Camptodactyly of finger, Scoliosis, Limitation of joint mobility |
ORPHA:1545 |
Clark-Baraitser syndrome |
|
Kyphosis, Genu recurvatum, Scoliosis, Genu valgum, Joint laxity |
OMIM:300602 |
Uruguay Faciocardiomusculoskeletal Syndrome |
|
Kyphosis, Joint contracture of the hand, Camptodactyly of toe, Congenital hip dislocation, Scolio... |
OMIM:300280 |
Flynn-Aird Syndrome |
|
Kyphosis, Joint stiffness, Bone cyst, Scoliosis |
ORPHA:2047 |
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome |
|
Kyphosis, Hypoplastic vertebral bodies, Hemivertebrae, Scoliosis, Abnormal form of the vertebral ... |
ORPHA:2916 |
Cole-Carpenter Syndrome 2 |
|
Kyphosis, Coronal craniosynostosis, Osteopenia, Platyspondyly, Wormian bones, Lambdoidal craniosy... |
OMIM:616294 |
Mucopolysaccharidosis Type 4 |
|
Spinal canal stenosis, Kyphosis, Joint dislocation, Reduced bone mineral density, Platyspondyly, ... |
ORPHA:582 |
Sjögren-Larsson Syndrome |
|
Kyphosis, Joint stiffness, Scoliosis |
ORPHA:816 |
Urban-Rogers-Meyer Syndrome |
|
Recurrent fractures, Kyphosis, Camptodactyly of finger, Short neck, Osteoporosis, Flexion contrac... |
ORPHA:3409 |
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development |
|
Kyphosis, Scoliosis |
OMIM:618124 |
Atkin-Flaitz Syndrome |
|
Kyphosis, Genu recurvatum, Scoliosis, Genu valgum, Joint laxity |
OMIM:300431 |
Spastic Paraplegia, Optic Atrophy, And Neuropathy |
|
Kyphosis, Ankle clonus, Scoliosis, Flexion contracture |
OMIM:609541 |
Florid Cemento-Osseous Dysplasia |
|
Abnormal bone structure, Multiple bony cystic lesions, Mandibular osteomyelitis, Abnormal trabecu... |
ORPHA:83451 |
Hypophosphatemic Rickets With Hypercalciuria, Hereditary |
|
Recurrent fractures, Hypophosphatemic rickets, Delayed epiphyseal ossification, Sparse bone trabe... |
OMIM:241530 |
Microcephaly-Cervical Spine Fusion Anomalies Syndrome |
|
Fused cervical vertebrae, Short neck, Kyphosis, Hyperlordosis |
ORPHA:2522 |
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis |
|
Osteomyelitis, Scoliosis, Arthritis, Osteolysis, Hyperostosis, Craniofacial osteosclerosis, Abnor... |
ORPHA:324964 |
Myopathy, Centronuclear, 2 |
|
Kyphosis, Scoliosis, Flexion contracture, Hyperlordosis |
OMIM:255200 |
Desbuquois Dysplasia 1 |
|
Kyphosis, Advanced ossification of carpal bones, Joint dislocation, Osteoarthritis, Short neck, P... |
OMIM:251450 |
Ruvalcaba Syndrome |
|
Kyphosis, Scoliosis, Limited elbow extension |
OMIM:180870 |
Vacterl Association With Hydrocephalus |
|
Abnormal vertebral morphology, Radial club hand, Abnormality of the vertebral column |
OMIM:276950 |
Hypomelanosis Of Ito |
|
Kyphosis, Scoliosis |
OMIM:300337 |
Alpha-Mannosidosis |
|
Kyphosis, Short neck, Scoliosis, Synostosis of joints, Arthritis, Craniofacial hyperostosis |
ORPHA:61 |
Hypophosphatemic Rickets, X-Linked Recessive |
|
Recurrent fractures, Hypophosphatemic rickets, Delayed epiphyseal ossification, Sparse bone trabe... |
OMIM:300554 |
Zimmermann-Laband Syndrome 3 |
|
Kyphosis, Flexion contracture |
OMIM:618658 |
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia |
|
Kyphosis, Osteopenia, Scoliosis, Osteoporosis, Bicoronal synostosis, Joint hypermobility |
OMIM:619718 |
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome |
|
Kyphosis, Scoliosis, Osteoporosis, Flexion contracture |
OMIM:615381 |
Stickler Syndrome, Type I |
|
Joint stiffness, Kyphosis, Beaking of vertebral bodies, Spondylolisthesis, Osteoarthritis, Platys... |
OMIM:108300 |
Autism Spectrum Disorder Due To Auts2 Deficiency |
|
Kyphosis, Joint contracture of the hand, Scoliosis, Joint contracture of the 5th finger, Arthrogr... |
ORPHA:352490 |
Intellectual Developmental Disorder, X-Linked, Syndromic 14 |
|
Kyphosis, Scoliosis |
OMIM:300676 |
Intellectual Developmental Disorder, Autosomal Dominant 23 |
|
Kyphosis, Scoliosis, Sacral dimple, Hyperlordosis |
OMIM:615761 |
Spondyloarthropathy, Susceptibility To, 1 |
|
Kyphosis, Oligoarthritis, Back pain, Hip osteoarthritis, Sacroiliac arthritis, Enthesitis |
OMIM:106300 |
Ullrich Congenital Muscular Dystrophy 1 |
|
Kyphosis, Spinal rigidity, Increased laxity of fingers, Flexion contracture, Scoliosis, Hyperexte... |
OMIM:254090 |
Angioosteohypotrophic Syndrome |
|
Abnormal trabecular bone morphology, Thin bony cortex |
ORPHA:75508 |
Zimmermann-Laband Syndrome 2 |
|
Kyphosis, Short neck |
OMIM:616455 |
Spastic Paraplegia 46, Autosomal Recessive |
|
Kyphosis, Ankle clonus, Scoliosis |
OMIM:614409 |
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Osteopetrosis, Kyphosis, Platyspondyly |
OMIM:618476 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5 |
|
Kyphosis, Scoliosis, Hyperlordosis, Vertebral fusion, Achilles tendon contracture |
OMIM:607155 |
Baralle-Macken Syndrome |
|
Kyphosis |
OMIM:619255 |
Cole-Carpenter Syndrome |
|
Kyphosis, Recurrent fractures, Scoliosis, Abnormal form of the vertebral bodies, Wormian bones, J... |
ORPHA:2050 |
Mitochondrial Dna Depletion Syndrome 11 |
|
Kyphosis, Spinal rigidity |
OMIM:615084 |
Facial Abnormalities, Kyphoscoliosis, And Mental Retardation |
|
Kyphoscoliosis |
OMIM:227250 |
Intellectual Developmental Disorder, Autosomal Dominant 26 |
|
Kyphosis, Scoliosis, Arthrogryposis multiplex congenita |
OMIM:615834 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Recurrent fractures, Sparse bone trabeculae, Delayed epiphyseal ossification, Widely patent fonta... |
OMIM:264700 |
Mcdonough Syndrome |
|
Kyphosis, Scoliosis |
ORPHA:2471 |
Becker Nevus Syndrome |
|
Kyphosis, Scoliosis, Spina bifida occulta |
ORPHA:64755 |
Alg1-Cdg |
|
Kyphosis, Scoliosis, Limitation of joint mobility |
ORPHA:79327 |
Dysostosis, Stanescu Type |
|
Kyphosis, Increased bone mineral density, Massively thickened long bone cortices, Short neck, Sco... |
ORPHA:1798 |
Progressive Non-Infectious Anterior Vertebral Fusion |
|
Joint stiffness, Kyphosis, Spinal rigidity, Proximal radio-ulnar synostosis, Hemivertebrae, Abnor... |
ORPHA:2062 |
Subaortic Stenosis-Short Stature Syndrome |
|
Kyphosis, Short neck, Synostosis of carpal bones, Scoliosis |
ORPHA:3191 |
Fountain Syndrome |
|
Kyphosis, Scoliosis, Abnormal form of the vertebral bodies, Spina bifida occulta, Coarse metaphys... |
ORPHA:3219 |
Typical Nemaline Myopathy |
|
Kyphosis, Spinal rigidity, Flexion contracture, Short neck, Scoliosis, Genu varum, Hyperlordosis,... |
ORPHA:171436 |
Hypocalcemic Vitamin D-Dependent Rickets |
|
Delayed epiphyseal ossification, Sparse bone trabeculae, Osteomalacia, Wide cranial sutures, Genu... |
ORPHA:289157 |
Acth-Independent Macronodular Adrenal Hyperplasia |
|
Osteopenia, Kyphosis, Osteoporosis |
OMIM:219080 |
Achondroplasia |
|
Spinal canal stenosis, Kyphosis, Wide anterior fontanel, Lumbar hyperlordosis, Hip joint hypermob... |
ORPHA:15 |
Marfanoid Habitus With Situs Inversus |
|
Hyperextensibility of the finger joints, Kyphosis, Scoliosis, Genu recurvatum |
OMIM:609008 |
Vitamin D-Dependent Rickets, Type 2A |
|
Recurrent fractures, Sparse bone trabeculae, Delayed epiphyseal ossification, Widely patent fonta... |
OMIM:277440 |
Pigmented Nodular Adrenocortical Disease, Primary, 2 |
|
Osteopenia, Kyphosis, Osteoporosis |
OMIM:610475 |
Autosomal Recessive Spondylocostal Dysostosis |
|
Vertebral segmentation defect, Kyphosis, Camptodactyly of finger, Short neck, Scoliosis, Abnormal... |
ORPHA:2311 |
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type |
|
Abnormal bone ossification, Lumbar hyperlordosis, Reduced bone mineral density, Biconvex vertebra... |
ORPHA:93315 |
Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome |
|
Kyphosis |
ORPHA:77300 |
Thanatophoric Dysplasia |
|
Kyphosis, Joint stiffness, Platyspondyly, Abnormal sacroiliac joint morphology, Joint hyperflexib... |
ORPHA:2655 |
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Kyphosis, Hyperlordosis |
ORPHA:3085 |
Mucopolysaccharidosis Type 6 |
|
Joint stiffness, Kyphosis, Short neck, Genu valgum, Ovoid vertebral bodies |
ORPHA:583 |
Dystonia 1, Torsion, Autosomal Dominant |
|
Kyphosis, Multiple joint contractures, Scoliosis, Hyperlordosis |
OMIM:128100 |
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans |
|
Kyphosis, Lumbar hyperlordosis, Platyspondyly, Wide anterior fontanel |
OMIM:616482 |
Dent Disease 1 |
|
Recurrent fractures, Delayed epiphyseal ossification, Sparse bone trabeculae, Osteomalacia, Thin ... |
OMIM:300009 |
Myasthenic Syndrome, Congenital, 20, Presynaptic |
|
Kyphosis, Scoliosis, Arthrogryposis multiplex congenita |
OMIM:617143 |
Lateral Meningocele Syndrome |
|
Kyphosis, Prominent metopic ridge, Short neck, Scoliosis, Abnormal form of the vertebral bodies, ... |
ORPHA:2789 |
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome |
|
Neuropathic spinal arthropathy, Kyphosis, Spinal rigidity |
ORPHA:352447 |
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome |
|
Kyphosis, Hip dislocation, Scoliosis |
ORPHA:464282 |
Dyggve-Melchior-Clausen Disease |
|
Kyphosis, Beaking of vertebral bodies, Lumbar hyperlordosis, Short neck, Multicentric ossificatio... |
OMIM:223800 |
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome |
|
Vertebral segmentation defect, Joint stiffness, Kyphosis, Synostosis of carpal bones, Scoliosis, ... |
ORPHA:1005 |
Mucopolysaccharidosis, Type Vii |
|
Joint stiffness, Kyphosis, Flexion contracture, Anterior beaking of lumbar vertebrae, Platyspondy... |
OMIM:253220 |
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy |
|
Joint stiffness, Kyphosis, Decreased cervical spine flexion due to contractures of posterior cerv... |
ORPHA:98855 |
Marinesco-Sjogren Syndrome |
|
Kyphosis, Cubitus valgus, Scoliosis, Flexion contracture |
OMIM:248800 |
Gaucher Disease Type 1 |
|
Kyphosis, Increased bone mineral density, Osteopenia, Osteoarthritis, Pathologic fracture, Osteol... |
ORPHA:77259 |
Gm1-Gangliosidosis, Type I |
|
Kyphosis, Joint stiffness, Beaking of vertebral bodies, Hypoplastic vertebral bodies, Short neck,... |
OMIM:230500 |
Thanatophoric Dysplasia Type 2 |
|
Kyphosis, Platyspondyly, Joint hyperflexibility, Limitation of joint mobility |
ORPHA:93274 |
Wieacker-Wolff Syndrome |
|
Kyphosis, Congenital foot contractures, Short neck, Scoliosis, Camptodactyly, Hyperlordosis, Arth... |
OMIM:314580 |
Lateral Meningocele Syndrome |
|
Kyphosis, Sclerosis of skull base, Short neck, Biconcave vertebral bodies, Scoliosis, Wormian bon... |
OMIM:130720 |
X-Linked Emery-Dreifuss Muscular Dystrophy |
|
Joint stiffness, Kyphosis, Decreased cervical spine flexion due to contractures of posterior cerv... |
ORPHA:98863 |
Ruvalcaba Syndrome |
|
Kyphosis, Synostosis of carpal bones, Scoliosis, Abnormality of vertebral epiphysis morphology, A... |
ORPHA:3121 |
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome |
|
Irregular vertebral endplates, Hip contracture, Kyphosis, Bone cyst, Flexion contracture, Calcifi... |
ORPHA:3042 |
Developmental Malformations-Deafness-Dystonia Syndrome |
|
Kyphosis, Scoliosis |
ORPHA:79107 |
Pycnodysostosis |
|
Kyphosis, Spondylolisthesis, Increased bone mineral density, Coronal craniosynostosis, Spondyloly... |
ORPHA:763 |
Wieacker-Wolff Syndrome, Female-Restricted |
|
Hip contracture, Kyphosis, Flexion contracture, Short neck, Scoliosis, Hip dislocation, Limited s... |
OMIM:301041 |
Mayer-Rokitansky-Küster-Hauser Syndrome |
|
Vertebral segmentation defect, Vertebral fusion, Abnormal form of the vertebral bodies, Abnormal ... |
ORPHA:3109 |
Paget Disease Of Bone 5, Juvenile-Onset |
|
Recurrent fractures, Kyphosis, Increased bone mineral density, Osteopenia, Osteoporosis, Ankylosis |
OMIM:239000 |
Aneurysm-Osteoarthritis Syndrome |
|
Spondylolisthesis, Osteoarthritis of the small joints of the hand, Intervertebral disc degenerati... |
ORPHA:284984 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Kyphosis, Scoliosis |
OMIM:616449 |
Trisomy 9P |
|
Kyphosis, Short neck, Scoliosis, Sacral dimple |
ORPHA:236 |
Emery-Dreifuss Muscular Dystrophy |
|
Joint stiffness, Kyphosis, Decreased cervical spine flexion due to contractures of posterior cerv... |
ORPHA:261 |
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
|
Joint stiffness, Kyphosis, Decreased cervical spine flexion due to contractures of posterior cerv... |
ORPHA:98853 |
4Q21 Microdeletion Syndrome |
|
Kyphosis, Short neck, Scoliosis |
ORPHA:238750 |
Schaaf-Yang Syndrome |
|
Kyphosis, Flexion contracture, Scoliosis, Camptodactyly, Arthrogryposis multiplex congenita |
OMIM:615547 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 |
|
Kyphosis, Thoracic scoliosis, Knee flexion contracture |
OMIM:603387 |
Pigmented Nodular Adrenocortical Disease, Primary, 1 |
|
Osteopenia, Kyphosis, Osteoporosis |
OMIM:610489 |
Pituitary Adenoma 4, Acth-Secreting |
|
Kyphosis, Biconcave vertebral bodies, Osteoporosis, Vertebral compression fracture |
OMIM:219090 |
3M Syndrome |
|
Kyphosis, Increased vertebral height, Short neck, Scoliosis, Congenital hip dislocation, Hyperlor... |
ORPHA:2616 |
Familial Osteodysplasia, Anderson Type |
|
Kyphosis, Recurrent fractures, Scoliosis, Abnormal form of the vertebral bodies, Increased suscep... |
ORPHA:2769 |
Pelizaeus-Merzbacher Disease |
|
Kyphosis, Joint stiffness, Scoliosis |
ORPHA:702 |
Multiple Pterygium Syndrome, Escobar Variant |
|
Multiple joint contractures, Short neck, Pterygium, Flexion contracture, Anterior clefting of ver... |
OMIM:265000 |
Mend Syndrome |
|
Kyphosis |
OMIM:300960 |
Scapuloperoneal Spinal Muscular Atrophy |
|
Kyphosis, Scoliosis, Hyperlordosis |
OMIM:181405 |
Sialidosis Type 1 |
|
Kyphosis, Scoliosis, Abnormal form of the vertebral bodies |
ORPHA:812 |
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations |
|
Short neck, Genu valgum, Generalized bone demineralization, Intervertebral space narrowing, Elbow... |
OMIM:143095 |
Srd5A3-Cdg |
|
Abnormal sacrum morphology, Kyphosis |
ORPHA:324737 |
Megalocornea-Intellectual Disability Syndrome |
|
Kyphosis, Osteopenia, Scoliosis, Genu varum, Joint hyperflexibility |
ORPHA:2479 |
Congenital Disorder Of Glycosylation, Type Il |
|
Kyphosis, Short neck, Hip dislocation |
OMIM:608776 |
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome |
|
Kyphosis, Osteomyelitis, Flexion contracture of finger, Scoliosis, Camptodactyly |
ORPHA:88628 |
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder |
|
Kyphosis |
ORPHA:500180 |
15Q14 Microdeletion Syndrome |
|
Kyphosis, Scoliosis |
ORPHA:261190 |
Cdags Syndrome |
|
Kyphosis, Coronal craniosynostosis, Delayed cranial suture closure, Sagittal craniosynostosis, La... |
OMIM:603116 |
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly |
|
Kyphosis, Joint dislocation, Platyspondyly, Limited elbow extension, Camptodactyly, Hyperlordosis... |
OMIM:618019 |
Foxg1 Syndrome Due To 14Q12 Microdeletion |
|
Kyphosis, Prominent metopic ridge, Scoliosis |
ORPHA:261144 |
Hurler-Scheie Syndrome |
|
Joint stiffness, Kyphosis, Contracture of the distal interphalangeal joint of the fingers, Campto... |
OMIM:607015 |
Harrod Syndrome |
|
Kyphosis, Scoliosis, Joint hyperflexibility |
ORPHA:2115 |
Atypical Rett Syndrome |
|
Kyphosis, Scoliosis |
ORPHA:3095 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type |
|
Kyphosis, Joint laxity |
OMIM:300354 |
Holt-Oram Syndrome |
|
Kyphosis, Joint stiffness, Scoliosis, Radioulnar synostosis |
ORPHA:392 |
Distal 16P11.2 Microdeletion Syndrome |
|
Kyphosis |
ORPHA:261222 |
Marden-Walker Syndrome |
|
Kyphosis, Wide anterior fontanel, Joint contracture of the hand, Short neck, Scoliosis, Camptodac... |
OMIM:248700 |
Osteoporosis-Pseudoglioma Syndrome |
|
Kyphoscoliosis, Platyspondyly, Osteoporosis, Pathologic fracture, Increased susceptibility to fra... |
OMIM:259770 |
Campomelic Dysplasia |
|
Poorly ossified cervical vertebrae, Recurrent fractures, Kyphosis, Tracheomalacia, Short neck, Sc... |
ORPHA:140 |
Short Stature, Impaired Intellectual Development, Microcephaly, Hypotonia, And Ocular Anomalies |
|
Kyphosis, Bilateral camptodactyly, Scoliosis, Hip subluxation |
OMIM:619557 |
Thanatophoric Dysplasia Type 1 |
|
Kyphosis, Joint stiffness, Wide anterior fontanel, Platyspondyly, Abnormal sacroiliac joint morph... |
ORPHA:1860 |
Spondyloperipheral Dysplasia |
|
Kyphosis, Acetabular spurs, Platyspondyly, Limited elbow extension, Flat acetabular roof |
OMIM:271700 |
Classical-Like Ehlers-Danlos Syndrome Type 2 |
|
Kyphosis, Kyphoscoliosis, Thoracic scoliosis, Joint dislocation, Knee dislocation, Osteopenia, Sh... |
ORPHA:536532 |
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome |
|
Kyphosis, Short neck |
ORPHA:3082 |
Trisomy 20P |
|
Vertebral segmentation defect, Kyphosis, Reduced bone mineral density, Camptodactyly of finger, P... |
ORPHA:261318 |
Basilar Impression, Primary |
|
Kyphoscoliosis, Short neck |
OMIM:109500 |
Atypical Werner Syndrome |
|
Increased bone mineral density, Reduced bone mineral density, Intervertebral disc degeneration, C... |
ORPHA:79474 |
Brown-Vialetto-Van Laere Syndrome 1 |
|
Kyphosis, Ankle clonus, Scoliosis |
OMIM:211530 |
Dent Disease |
|
Recurrent fractures, Delayed epiphyseal ossification, Sparse bone trabeculae, Osteomalacia, Thin ... |
ORPHA:1652 |
Gm1 Gangliosidosis |
|
Joint stiffness, Kyphosis, Camptodactyly of finger, Platyspondyly, Scoliosis, Abnormal form of th... |
ORPHA:354 |
Cono-Spondylar Dysplasia |
|
Kyphosis, Short neck, Scoliosis |
ORPHA:420794 |
19P13.12 Microdeletion Syndrome |
|
Kyphosis, Craniosynostosis, Short neck, Scoliosis, Arthrogryposis multiplex congenita |
ORPHA:254346 |
Hurler Syndrome |
|
Joint stiffness, Kyphosis, Flexion contracture, Calvarial hyperostosis, Short neck, Biconcave ver... |
OMIM:607014 |
Tessadori-Van Haaften Neurodevelopmental Syndrome 4 |
|
Kyphosis, Camptodactyly of finger, Scoliosis, Bicoronal synostosis, Joint hypermobility |
OMIM:619951 |
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities |
|
Kyphosis, Hip contracture, Finger joint hypermobility, Scoliosis, Genu valgum, Elbow flexion cont... |
OMIM:618493 |
Jaberi-Elahi Syndrome |
|
Kyphosis, Joint stiffness, Scoliosis, Joint hypermobility |
OMIM:617988 |
Orofaciodigital Syndrome Iii |
|
Kyphosis |
OMIM:258850 |
Autosomal Recessive Ataxia, Beauce Type |
|
Kyphosis, Ankle clonus, Scoliosis |
ORPHA:88644 |
Rett Syndrome |
|
Kyphosis, Scoliosis |
OMIM:312750 |
X-Linked Intellectual Disability Due To Gria3 Mutations |
|
Kyphosis, Genu recurvatum, Joint laxity, Scoliosis |
ORPHA:364028 |
Acro-Renal-Mandibular Syndrome |
|
Kyphosis, Butterfly vertebrae, Hemivertebrae, Short neck, Scoliosis, Hip dislocation |
ORPHA:958 |
Mosaic Trisomy 20 |
|
Spinal canal stenosis, Vertebral segmentation defect, Kyphosis, Limited pronation/supination of f... |
ORPHA:1724 |
Frank-Ter Haar Syndrome |
|
Kyphosis, Wide anterior fontanel, Kyphoscoliosis, Osteopenia, Delayed cranial suture closure, Ost... |
OMIM:249420 |
Fucosidosis |
|
Kyphosis, Anterior beaking of lumbar vertebrae |
ORPHA:349 |
Cockayne Syndrome Type 2 |
|
Kyphosis, Scoliosis, Flexion contracture |
ORPHA:90322 |
Occipital Horn Syndrome |
|
Kyphosis, Platyspondyly, Osteoporosis, Limited elbow extension, Genu valgum, Joint laxity, Persis... |
OMIM:304150 |
15Q24 Microdeletion Syndrome |
|
Kyphosis, Joint laxity, Scoliosis |
ORPHA:94065 |
Pelger-Huet Anomaly |
|
Kyphosis |
OMIM:169400 |
Koolen-De Vries Syndrome |
|
Vertebral segmentation defect, Kyphosis, Scoliosis, Hip dislocation, Vertebral fusion, Joint hype... |
ORPHA:96169 |
Rothmund-Thomson Syndrome Type 2 |
|
Joint dislocation, Osteopenia, Synostosis involving bones of the upper limbs, Genu varum, Abnorma... |
ORPHA:221016 |
Loeys-Dietz Syndrome 3 |
|
Spondylolisthesis, Craniosynostosis, Intervertebral disc degeneration, Osteoarthritis, Scoliosis,... |
OMIM:613795 |
Chromosome Xq26.3 Duplication Syndrome |
|
Kyphosis |
OMIM:300942 |
X-Linked Intellectual Disability, Cabezas Type |
|
Kyphosis, Camptodactyly of finger, Short neck, Scoliosis, Cubitus valgus, Joint hyperflexibility |
ORPHA:85293 |
Pontocerebellar Hypoplasia, Type 17 |
|
Kyphosis |
OMIM:619909 |
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities |
|
Kyphosis, Scoliosis, Hyperlordosis, Thoracolumbar scoliosis, Genu valgum |
OMIM:618443 |
Genitopalatocardiac Syndrome |
|
Kyphosis, Scoliosis |
ORPHA:2075 |
Lowe Oculocerebrorenal Syndrome |
|
Kyphosis, Joint contracture of the hand, Camptodactyly of finger, Platyspondyly, Osteomalacia, Sc... |
OMIM:309000 |
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Kyphosis, Lumbar hyperlordosis, Increased intervertebral space, Craniosynostosis, Cervical instab... |
ORPHA:508533 |
Distal Tetrasomy 15Q |
|
Kyphosis, Flexion contracture, Craniosynostosis, Scoliosis, Camptodactyly |
ORPHA:314588 |
Emanuel Syndrome |
|
Kyphosis, Congenital hip dislocation, Scoliosis |
OMIM:609029 |
Rothmund-Thomson Syndrome |
|
Reduced bone mineral density, Osteopenia, Aplasia/Hypoplasia of the patella, Abnormal trabecular ... |
ORPHA:2909 |
Hajdu-Cheney Syndrome |
|
Recurrent fractures, Kyphosis, Osteopenia, Short neck, Biconcave vertebral bodies, Osteoporosis, ... |
ORPHA:955 |
Schwartz-Jampel Syndrome |
|
Joint stiffness, Hip contracture, Kyphosis, Increased bone mineral density, Spinal rigidity, Abno... |
ORPHA:800 |
Trisomy 13 |
|
Kyphosis, Scoliosis |
ORPHA:3378 |
3C Syndrome |
|
Kyphosis, Hemivertebrae, Short neck, Scoliosis |
ORPHA:7 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Kyphosis, Increased bone mineral density, Elbow ankylosis, Osteopetrosis, Delayed cranial suture ... |
ORPHA:2658 |
Classic Homocystinuria |
|
Recurrent fractures, Joint stiffness, Kyphosis, Scoliosis, Osteoporosis, Genu valgum |
ORPHA:394 |
Postencephalitic Parkinsonism |
|
Kyphosis, Camptocormia |
ORPHA:97349 |
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction |
|
Kyphosis, Hemivertebrae, Short neck, Scoliosis |
OMIM:618223 |
Occipital Horn Syndrome |
|
Kyphosis, Osteopenia, Delayed cranial suture closure, Platyspondyly, Osteomalacia, Osteoporosis, ... |
ORPHA:198 |
Rothmund-Thomson Syndrome Type 1 |
|
Osteopenia, Genu varum, Abnormal trabecular bone morphology, Patellar aplasia, Patellar hypoplasi... |
ORPHA:221008 |
Pseudoxanthoma Elasticum, Forme Fruste |
|
Kyphosis, Scoliosis |
OMIM:177850 |
Cleidocranial Dysplasia 1 |
|
Kyphosis, Spondylolisthesis, Increased bone mineral density, Spondylolysis, Scoliosis, Wormian bo... |
OMIM:119600 |
Coffin-Lowry Syndrome |
|
Kyphosis, Scoliosis, Abnormal form of the vertebral bodies, Joint hyperflexibility, Craniofacial ... |
ORPHA:192 |
Multiple Endocrine Neoplasia, Type Iib |
|
Kyphosis, Joint laxity, Scoliosis, Hyperlordosis |
OMIM:162300 |
Micro Syndrome |
|
Kyphosis, Joint stiffness, Scoliosis |
ORPHA:2510 |
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome |
|
Kyphosis, Scoliosis, Genu varum |
ORPHA:1969 |
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
|
Kyphosis, Scoliosis |
ORPHA:404440 |
Cardiofacioneurodevelopmental Syndrome |
|
Kyphosis, Camptodactyly |
OMIM:619123 |
Noonan Syndrome 14 |
|
Kyphosis, Short neck, Cubitus valgus, Limited elbow extension |
OMIM:619745 |
Intellectual Developmental Disorder, Autosomal Dominant 57 |
|
Kyphosis, Craniosynostosis, Scoliosis, Contracture of the proximal interphalangeal joint of the 4... |
OMIM:618050 |
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome |
|
Kyphosis, Wide anterior fontanel, Coronal craniosynostosis, Delayed cranial suture closure, Tarsa... |
ORPHA:85199 |
Microphthalmia, Lenz Type |
|
Kyphosis, Camptodactyly of finger, Scoliosis, Hyperlordosis |
ORPHA:568 |
Intellectual Developmental Disorder, X-Linked, Syndromic 33 |
|
Kyphosis, Osteopenia, Short neck, Scoliosis, Prominent protruding coccyx, Prominent coccyx, Joint... |
OMIM:300966 |
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome |
|
Kyphosis, Lumbar hyperlordosis, Osteopenia, Osteoporosis, Contracture of the proximal interphalan... |
ORPHA:2232 |
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly |
|
Kyphosis, Scoliosis |
OMIM:617061 |
Alstrom Syndrome |
|
Kyphosis, Scoliosis, Hyperostosis frontalis interna |
OMIM:203800 |
Multiple Pterygium-Malignant Hyperthermia Syndrome |
|
Kyphosis, Camptodactyly of finger, Prominent metopic ridge, Scoliosis, Arthrogryposis multiplex c... |
ORPHA:2215 |
Cowden Syndrome 5 |
|
Kyphosis, Scoliosis |
OMIM:615108 |
Camurati-Engelmann Disease |
|
Kyphosis, Cortical thickening of long bone diaphyses, Abnormality of the vertebral column, Scolio... |
ORPHA:1328 |
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism |
|
Kyphosis |
OMIM:619244 |
Mucopolysaccharidosis, Type Ii |
|
Tracheobronchomalacia, Kyphosis, Short neck, Flexion contracture |
OMIM:309900 |
Osteopetrosis, Autosomal Recessive 7 |
|
Osteopetrosis, Abnormal trabecular bone morphology |
OMIM:612301 |
Mgat2-Cdg |
|
Kyphosis, Osteopenia, Scoliosis |
ORPHA:79329 |
Koolen-De Vries Syndrome |
|
Kyphosis, Spondylolisthesis, Prominent metopic ridge, Scoliosis, Joint hypermobility, Hip disloca... |
OMIM:610443 |
Marfanoid-Progeroid-Lipodystrophy Syndrome |
|
Hyperextensibility of the finger joints, Kyphosis, Craniosynostosis |
OMIM:616914 |
Cowden Syndrome 6 |
|
Kyphosis, Scoliosis |
OMIM:615109 |
Alexander Disease |
|
Kyphosis, Osteopenia, Short neck, Scoliosis, Hyperlordosis |
ORPHA:58 |
Mucolipidosis Type Ii |
|
Hip contracture, Kyphosis, Craniosynostosis, Decreased movement range in interphalangeal joints, ... |
ORPHA:576 |
Ramon Syndrome |
|
Juvenile rheumatoid arthritis, Kyphosis, Scoliosis |
OMIM:266270 |
16P13.2 Microdeletion Syndrome |
|
Kyphosis, Scoliosis, Flexion contracture |
ORPHA:500055 |
Osteogenesis Imperfecta |
|
Osteopenia, Biconcave vertebral bodies, Genu valgum, Abnormal cortical bone morphology, Flexion c... |
ORPHA:666 |
Magel2-Related Prader-Willi-Like Syndrome |
|
Kyphosis, Flexion contracture, Osteopenia, Scoliosis, Osteoporosis |
ORPHA:398069 |
Spondyloenchondrodysplasia |
|
Juvenile rheumatoid arthritis, Kyphosis, Platyspondyly, Arthritis |
ORPHA:1855 |
Spondyloepimetaphyseal Dysplasia, X-Linked |
|
Kyphosis, Lumbar hyperlordosis, Delayed ossification of carpal bones, Anterior wedging of T11, Pl... |
OMIM:300106 |
Digeorge Syndrome |
|
Intervertebral disc degeneration, Scoliosis, Patellar dislocation, Pilonidal sinus |
OMIM:188400 |
2P15P16.1 Microdeletion Syndrome |
|
Kyphosis, Camptodactyly of finger, Prominent metopic ridge, Scoliosis, Patellar dislocation |
ORPHA:261349 |
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation |
|
Kyphosis, Joint laxity, Scoliosis, Hyperlordosis |
OMIM:617011 |
2Q31.1 Microdeletion Syndrome |
|
Vertebral segmentation defect, Kyphosis, Camptodactyly of finger, Short neck, Scoliosis, Prominen... |
ORPHA:251014 |
Ectodermal Dysplasia, Sensorineural Hearing Loss, And Distinctive Facial Features |
|
Kyphosis |
OMIM:609944 |
Poland Syndrome |
|
Vertebral segmentation defect, Kyphosis, Reduced bone mineral density, Hemivertebrae, Short neck,... |
ORPHA:2911 |
Shprintzen Omphalocele Syndrome |
|
Kyphosis, Lumbar hyperlordosis, Scoliosis |
OMIM:182210 |
Stickler Syndrome |
|
Spinal canal stenosis, Kyphosis, Joint dislocation, Reduced bone mineral density, Osteoarthritis,... |
ORPHA:828 |
Alpha-Thalassemia/Mental Retardation Syndrome, X-Linked |
|
Kyphosis, Hemivertebrae, Kyphoscoliosis, Scoliosis |
OMIM:301040 |
Monosomy 9Q22.3 |
|
Kyphosis, Abnormality of the vertebral column, Short neck, Metopic synostosis, Joint hyperflexibi... |
ORPHA:77301 |
16Q24.3 Microdeletion Syndrome |
|
Kyphosis, Scoliosis |
ORPHA:261250 |
Cohen Syndrome |
|
Kyphosis, Scoliosis, Genu valgum, Cubitus valgus, Joint hyperflexibility |
ORPHA:193 |
Rett Syndrome, Congenital Variant |
|
Kyphosis, Scoliosis |
OMIM:613454 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Osteopenia, Kyphosis, Flexion contracture |
OMIM:212065 |
Aspartylglucosaminuria |
|
Kyphosis, Beaking of vertebral bodies, Spondylolisthesis, Spondylolysis, Platyspondyly, Scoliosis... |
OMIM:208400 |
Prader-Willi Syndrome |
|
Kyphosis, Osteopenia, Scoliosis, Osteoporosis, Genu valgum |
OMIM:176270 |
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome |
|
Kyphosis, Scoliosis |
ORPHA:476126 |
Weaver Syndrome |
|
Kyphosis, Joint contracture of the hand, Scoliosis, Limited elbow extension, Camptodactyly, Limit... |
OMIM:277590 |
Cowden Syndrome 1 |
|
Kyphosis, Scoliosis |
OMIM:158350 |
Marfan Syndrome |
|
Kyphosis, Spondylolisthesis, Osteopenia, Scoliosis, Osteoporosis, Limited elbow movement, Protrus... |
ORPHA:558 |
Gastrointestinal Defects And Immunodeficiency Syndrome 2 |
|
Kyphosis, Knee flexion contracture |
OMIM:619708 |
Marshall-Smith Syndrome |
|
Recurrent fractures, Decreased hip abduction, Kyphoscoliosis, Kyphosis, Thoracic scoliosis, Atlan... |
OMIM:602535 |
Wolf-Hirschhorn Syndrome |
|
Kyphosis, Abnormality of the vertebral column, Scoliosis, Osteoporosis, Abnormal form of the vert... |
ORPHA:280 |
Marden-Walker Syndrome |
|
Joint stiffness, Kyphosis, Camptodactyly of finger, Scoliosis, Abnormal form of the vertebral bod... |
ORPHA:2461 |
Neurofacioskeletal Syndrome With Or Without Renal Agenesis |
|
Hip contracture, Kyphosis, Short neck, Scoliosis, Prominent crus of helix, Genu valgum, Elbow fle... |
OMIM:619194 |
X-Linked Intellectual Disability, Snyder Type |
|
Recurrent fractures, Kyphoscoliosis, Kyphosis, Osteoporosis, Camptodactyly |
ORPHA:3063 |
Robinow Syndrome, Autosomal Dominant 3 |
|
Kyphosis, Short neck, Scoliosis, Camptodactyly, Sacral dimple |
OMIM:616894 |
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome |
|
Kyphosis, Kyphoscoliosis, Lumbar hyperlordosis, Metopic synostosis, Joint laxity, Limitation of j... |
ORPHA:457359 |
Wrinkly Skin Syndrome |
|
Kyphosis, Wide anterior fontanel, Osteopenia, Delayed cranial suture closure, Congenital hip disl... |
OMIM:278250 |
Plaa-Associated Neurodevelopmental Disorder |
|
Hyperextensibility of the finger joints, Kyphosis, Contractures of the large joints |
ORPHA:521426 |
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
|
Kyphosis, Contractures of the large joints |
OMIM:617527 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Kyphosis, Contracture of the proximal interphalangeal joint of the 3rd finger, Scoliosis |
ORPHA:464738 |
Cerebrocostomandibular Syndrome |
|
Kyphosis, Tracheomalacia |
ORPHA:1393 |
Triosephosphate Isomerase Deficiency |
|
Kyphosis |
OMIM:615512 |
Autosomal Recessive Robinow Syndrome |
|
Vertebral segmentation defect, Kyphosis, Camptodactyly of finger, Short neck, Synostosis of carpa... |
ORPHA:1507 |
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia |
|
Kyphosis, Scoliosis |
OMIM:619005 |
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Kyphosis, Flexion contracture of finger, Scoliosis, Abnormality of the cervical spine, Ankle flex... |
ORPHA:464311 |
Autosomal Recessive Spastic Paraplegia Type 35 |
|
Kyphosis, Ankle clonus |
ORPHA:171629 |
Zttk Syndrome |
|
Kyphosis, Flexion contracture, Craniosynostosis, Hemivertebrae, Scoliosis, Joint hypermobility |
OMIM:617140 |
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction |
|
Kyphosis, Scoliosis |
OMIM:619482 |
Dyrk1A-Related Intellectual Disability Syndrome |
|
Kyphosis, Multiple joint contractures, Scoliosis, Abnormality of the cervical spine |
ORPHA:464306 |
Cowden Syndrome |
|
Kyphosis, Bone cyst, Scoliosis |
ORPHA:201 |
Koolen-De Vries Syndrome Due To A Point Mutation |
|
Kyphosis, Spondylolisthesis, Joint dislocation, Tracheomalacia, Craniosynostosis, Cervical spinal... |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
|
Kyphosis, Spondylolisthesis, Joint dislocation, Tracheomalacia, Craniosynostosis, Cervical spinal... |
ORPHA:363958 |
Oculocerebrorenal Syndrome Of Lowe |
|
Recurrent fractures, Joint stiffness, Kyphosis, Joint swelling, Platyspondyly, Osteomalacia, Scol... |
ORPHA:534 |
Mend Syndrome |
|
Kyphosis, Wide anterior fontanel, Sacral dimple |
ORPHA:401973 |
Cockayne Syndrome B |
|
Kyphosis, Ivory epiphyses of the phalanges of the hand, Osteoporosis, Limitation of joint mobility |
OMIM:133540 |
Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Kyphosis, Synostosis of the proximal phalanx of the thumb with the 1st metacarpal, Kyphoscoliosis... |
OMIM:300967 |
Non-Specific Syndromic Intellectual Disability |
|
Kyphosis, Scoliosis, Joint hypermobility |
ORPHA:528084 |
Primrose Syndrome |
|
Irregular vertebral endplates, Hip contracture, Kyphosis, Flexion contracture, Reduced bone miner... |
OMIM:259050 |
Wolf-Hirschhorn Syndrome |
|
Kyphosis, Abnormal sternal ossification, Scoliosis, Abnormal form of the vertebral bodies, Radiou... |
OMIM:194190 |
Cockayne Syndrome A |
|
Hip contracture, Ivory epiphyses of the phalanges of the hand, Kyphosis, Limitation of joint mobi... |
OMIM:216400 |
17Q11 Microdeletion Syndrome |
|
Kyphosis, Osteopenia, Beaking of vertebral bodies T12-L3, Abnormality of the vertebral column, Sc... |
ORPHA:97685 |
Coffin-Lowry Syndrome |
|
Kyphosis, Hyperextensibility of the finger joints, Scoliosis, Delayed closure of the anterior fon... |
OMIM:303600 |
Cockayne Syndrome Type 3 |
|
Kyphosis, Scoliosis, Flexion contracture |
ORPHA:90324 |
Proteus Syndrome |
|
Joint stiffness, Kyphosis, Calvarial hyperostosis, Craniosynostosis, Scoliosis, Abnormal form of ... |
ORPHA:744 |
Neurofibromatosis Type 1 |
|
Recurrent fractures, Joint stiffness, Kyphosis, Scoliosis, Genu varum, Genu valgum |
ORPHA:636 |
Acromegaly |
|
Spinal canal stenosis, Kyphosis, Osteoarthritis, Joint swelling |
ORPHA:963 |
Somatomammotropinoma |
|
Spinal canal stenosis, Kyphosis, Osteoarthritis, Joint swelling |
ORPHA:314769 |
Smith-Lemli-Opitz Syndrome |
|
Kyphosis, Short neck, Scoliosis, Abnormal form of the vertebral bodies, Hip dislocation |
ORPHA:818 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Kyphosis, Reduced bone mineral density, Osteopenia, Short neck, Scoliosis, Osteoporosis, Genu val... |
ORPHA:99413 |
Turner Syndrome |
|
Kyphosis, Reduced bone mineral density, Osteopenia, Short neck, Scoliosis, Osteoporosis, Genu val... |
ORPHA:881 |
Mosaic Monosomy X |
|
Kyphosis, Reduced bone mineral density, Osteopenia, Short neck, Scoliosis, Osteoporosis, Genu val... |
ORPHA:99228 |
Monosomy X |
|
Kyphosis, Reduced bone mineral density, Osteopenia, Short neck, Scoliosis, Osteoporosis, Genu val... |
ORPHA:99226 |
Williams Syndrome |
|
Vertebral segmentation defect, Joint stiffness, Kyphosis, Increased bone mineral density, Osteope... |
ORPHA:904 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Kyphosis, Osteomyelitis, Back pain, Scoliosis, Genu valgum, Abnormality of the curvature of the v... |
OMIM:619475 |
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
|
Kyphosis, Camptodactyly of finger, Abnormality of the vertebral column, Platyspondyly, Abnormal v... |
ORPHA:2273 |
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
|
Kyphosis, Osteochondrosis, Scoliosis, Sacral dimple |
ORPHA:268261 |
1P36 Deletion Syndrome |
|
Spinal canal stenosis, Joint stiffness, Kyphosis, Delayed cranial suture closure, Camptodactyly o... |
ORPHA:1606 |
Cockayne Syndrome |
|
Kyphosis, Congenital contracture, Scoliosis, Contractures of the large joints |
ORPHA:191 |
Coffin-Siris Syndrome 1 |
|
Kyphosis, Dislocated radial head, Aplasia/Hypoplasia of the patella, Scoliosis, Spina bifida occu... |
OMIM:135900 |
Sotos Syndrome |
|
Hip contracture, Kyphosis, Flexion contracture, Craniosynostosis, Scoliosis, Bilateral camptodact... |
ORPHA:821 |
Yunis-Varon Syndrome |
|
Kyphosis, Decreased calvarial ossification, Congenital hip dislocation, Wide cranial sutures, Del... |
OMIM:216340 |
Viss Syndrome |
|
Kyphosis, Butterfly vertebrae, Generalized joint laxity, Recurrent joint dislocation, Scoliosis, ... |
OMIM:619472 |
Branchiooculofacial Syndrome |
|
Kyphosis, Short neck, Hyperlordosis, Elbow flexion contracture, Fusion of middle ear ossicles |
OMIM:113620 |
Alström Syndrome |
|
Lumbar scoliosis, Kyphosis, Thoracic scoliosis, Hyperostosis frontalis interna |
ORPHA:64 |