Spinal Dysplasia, Anhalt Type |
|
Osteoarthritis of the small joints of the hand, Spinal dysplasia, Thoracolumbar scoliosis, Absent... |
OMIM:601344 |
Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Delayed epiphyseal ossification, Lumbar hyperlordosis, Narrow vertebral interpedicular distance, ... |
OMIM:602557 |
Vertebral Hypoplasia With Lumbar Kyphosis |
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Vertebral hypoplasia, Lumbar kyphosis |
OMIM:192900 |
Cervical Vertebral Dysplasia |
|
Anterior atlanto-occipital dislocation, Cervical vertebral dysplasia, Cervical vertebral facet hy... |
OMIM:118005 |
Holoprosencephaly, Semilobar, With Craniosynostosis |
|
Coronal craniosynostosis, Short distal phalanx of finger, Hypoplastic vertebral bodies, Lambdoida... |
OMIM:601370 |
Odontoid Hypoplasia |
|
Atlantoaxial instability, Cervical instability, Dystopic os odontoideum, Hypoplasia of the odonto... |
OMIM:613628 |
Dysosteosclerosis |
|
Irregular vertebral endplates, Recurrent fractures, Hypoplastic vertebral bodies, Increased bone ... |
ORPHA:1782 |
Sacral Agenesis With Vertebral Anomalies |
|
Abnormal vertebral morphology, Absence of the sacrum |
OMIM:615709 |
Fibrodysplasia Ossificans Progressiva |
|
Ectopic ossification in tendon tissue, Short 1st metacarpal, Scoliosis, Short hallux, Ectopic oss... |
OMIM:135100 |
Familial Scheuermann Disease |
|
Kyphosis, Abnormal form of the vertebral bodies |
ORPHA:3135 |
Spondylometaphyseal Dysplasia, Corner Fracture Type |
|
Scoliosis, Short femoral neck, Hyperconvex vertebral body endplates, Ovoid vertebral bodies, Hypo... |
OMIM:184255 |
Gurrieri Syndrome |
|
Decreased anterioposterior diameter of lumbar vertebral bodies |
OMIM:601187 |
Richieri Costa-Da Silva Syndrome |
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Beaking of vertebral bodies, Kyphoscoliosis, Generalized bone demineralization, Decreased anterio... |
ORPHA:3101 |
Osteomesopyknosis |
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Kyphosis, Increased bone mineral density, Scoliosis, Abnormal form of the vertebral bodies, Scler... |
ORPHA:2777 |
Tumor Predisposition Syndrome 1 |
|
Lung adenocarcinoma, Cutaneous melanoma, Malignant mesothelioma, Renal cell carcinoma, Uveal mela... |
OMIM:614327 |
Cervical Vertebrae, Agenesis Of |
|
Cervical vertebral agenesis |
OMIM:214290 |
Dysosteosclerosis |
|
Irregular vertebral endplates, Sclerosis of skull base, Hypoplastic vertebral bodies, Short stern... |
OMIM:224300 |
Spondyloepimetaphyseal Dysplasia, Shohat Type |
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Squared-off platyspondyly, Delayed epiphyseal ossification, Narrow vertebral interpedicular dista... |
ORPHA:93352 |
Metatropic Dysplasia |
|
Kyphosis, Joint stiffness, Coarse metaphyseal trabecularization, Camptodactyly of finger, Scolios... |
ORPHA:2635 |
Dental Anomalies And Short Stature |
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Platyspondyly, Herniation of intervertebral nuclei, Intervertebral space narrowing, Narrow verteb... |
OMIM:601216 |
Gm1-Gangliosidosis, Type Ii |
|
Beaking of vertebral bodies, Joint stiffness, Hypoplastic vertebral bodies, Platyspondyly, Scolio... |
OMIM:230600 |
Schneckenbecken Dysplasia |
|
Advanced ossification of carpal bones, Narrow vertebral interpedicular distance, Short ribs, Plat... |
OMIM:269250 |
Infantile Liver Failure Syndrome 3 |
|
Beaking of vertebral bodies, Death in childhood, Platyspondyly, Hypoplastic vertebral bodies |
OMIM:618641 |
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome |
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Kyphosis, Hypoplastic vertebral bodies, Hemivertebrae, Scoliosis, Abnormal form of the vertebral ... |
ORPHA:2916 |
Acromesomelic Dysplasia, Maroteaux Type |
|
Kyphosis, Beaking of vertebral bodies, Joint stiffness, Scoliosis, Abnormal form of the vertebral... |
ORPHA:40 |
Greenberg Dysplasia |
|
Anterior rib punctate calcifications, Horizontal sacrum, Platyspondyly, 11 pairs of ribs, Microme... |
OMIM:215140 |
Gm1-Gangliosidosis, Type I |
|
Kyphosis, Beaking of vertebral bodies, Hypoplastic vertebral bodies, Joint stiffness, Short neck,... |
OMIM:230500 |
Patterson Pseudoleprechaunism Syndrome |
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Kyphoscoliosis, Cervical platyspondyly, Ovoid thoracolumbar vertebrae, Irregular sclerotic endpla... |
OMIM:169170 |
Diastrophic Dysplasia |
|
Hip contracture, Kyphoscoliosis, Lumbar hyperlordosis, Costal cartilage calcification, Scoliosis,... |
OMIM:222600 |
Lethal Kniest-Like Dysplasia |
|
Wide anterior fontanel, Hypoplastic vertebral bodies, Short ribs, Platyspondyly, Short neck, Meso... |
ORPHA:2347 |
Osteoarthritis With Mild Chondrodysplasia |
|
Irregular vertebral endplates, Beaking of vertebral bodies, Joint stiffness, Platyspondyly, Hip o... |
OMIM:604864 |
Craniometadiaphyseal Dysplasia, Wormian Bone Type |
|
Wide anterior fontanel, Increased bone mineral density, Osteopenia, Micrognathia, Thin bony corte... |
ORPHA:85184 |
Spondyloepiphyseal Dysplasia, Stanescu Type |
|
Beaking of vertebral bodies, Kyphoscoliosis, Joint stiffness, Platyspondyly, Stiff neck |
OMIM:616583 |
Polydactyly, Postaxial, With Dental And Vertebral Anomalies |
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Spinal canal stenosis, Kyphoscoliosis, Hypoplastic vertebral bodies, Hemivertebrae, Short middle ... |
OMIM:263540 |
Caudal Regression Syndrome |
|
Joint stiffness, Hypoplastic vertebral bodies, Abnormal vertebral segmentation and fusion, Scolio... |
ORPHA:3027 |
Brachytelephalangic Chondrodysplasia Punctata |
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Spinal canal stenosis, Calcaneal epiphyseal stippling, Short distal phalanx of finger, Butterfly ... |
ORPHA:79345 |
Lung Cancer |
|
Lung adenocarcinoma, Non-small cell lung carcinoma, Alveolar cell carcinoma |
OMIM:211980 |
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type |
|
Irregular vertebral endplates, Decreased hip abduction, Lumbar hyperlordosis, Platyspondyly, Scol... |
OMIM:609223 |
Acrodysostosis 1 With Or Without Hormone Resistance |
|
Spinal canal stenosis, Hypoplastic vertebral bodies, Narrow vertebral interpedicular distance, Ca... |
OMIM:101800 |
Holoprosencephaly-Craniosynostosis Syndrome |
|
Short distal phalanx of finger, Hypoplastic vertebral bodies, Craniosynostosis |
ORPHA:2163 |
Opsismodysplasia |
|
Joint stiffness, Hypoplastic vertebral bodies, Abnormally ossified vertebrae |
ORPHA:2746 |
Spondylocamptodactyly Syndrome |
|
Camptodactyly of finger, Platyspondyly, Scoliosis |
ORPHA:3180 |
Axial Spondylometaphyseal Dysplasia |
|
Thoracic scoliosis, Delayed ossification of carpal bones, Short ribs, Osteopenia, Platyspondyly, ... |
ORPHA:168549 |
Kniest-Like Dysplasia, Lethal |
|
Wide anterior fontanel, Hypoplastic vertebral bodies, Short ribs, Platyspondyly, Short neck, Rhiz... |
OMIM:245190 |
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type |
|
Short distal phalanx of finger, Lumbar hyperlordosis, Abnormal bone ossification, Reduced bone mi... |
ORPHA:93315 |
Endosteal Hyperostosis, Worth Type |
|
Clavicular sclerosis, Abnormal form of the vertebral bodies, Sclerotic vertebral body, Generalize... |
ORPHA:2790 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2 |
|
Irregular vertebral endplates, Scoliosis, Carpal bone hypoplasia, Caudal interpedicular narrowing... |
OMIM:603546 |
Spondylocostal Dysostosis 3, Autosomal Recessive |
|
Vertebral segmentation defect, Kyphosis, Contracture of the proximal interphalangeal joint of the... |
OMIM:609813 |
Greenberg Dysplasia |
|
Abnormal bone ossification, Anterior rib punctate calcifications, Abnormally ossified vertebrae, ... |
ORPHA:1426 |
Acromesomelic Dysplasia 1 |
|
Beaking of vertebral bodies, Short toe, Lumbar hyperlordosis, Thoracolumbar interpediculate narro... |
OMIM:602875 |
Opsismodysplasia |
|
Hypoplastic vertebral bodies, Short neck, Scoliosis, Severe platyspondyly, Rhizomelia, Short foot... |
OMIM:258480 |
Congenital Amegakaryocytic Thrombocytopenia |
|
Short neck, Scoliosis, Abnormal form of the vertebral bodies, Decreased skull ossification |
ORPHA:3319 |
Spondyloepiphyseal Dysplasia Tarda, Kohn Type |
|
Abnormal vertebral morphology, Restricted large joint movement, Platyspondyly |
ORPHA:163665 |
Li-Fraumeni Syndrome |
|
Neoplasm of the pancreas, Lung adenocarcinoma, Choriocarcinoma, Breast carcinoma, Prostate cancer... |
OMIM:151623 |
Autosomal Dominant Brachyolmia |
|
Increased vertebral height, Kyphoscoliosis, Platyspondyly |
ORPHA:93304 |
Epiphyseal Dysplasia, Multiple, 7 |
|
Vertebral wedging, Advanced ossification of carpal bones, Platyspondyly, Short femoral neck |
OMIM:617719 |
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density |
|
Short femur, Hypoplasia of the radius, Short tibia, Absent ossification of cervical vertebral bod... |
OMIM:601376 |
Osteogenesis Imperfecta |
|
Osteopenia, Biconcave vertebral bodies, Micromelia, Rhizomelia, Abnormal cortical bone morphology... |
ORPHA:666 |
Second Metatarsal-Metacarpal Syndrome |
|
Platyspondyly, Synostosis of carpals/tarsals |
OMIM:269630 |
Brachyolmia, Maroteaux Type |
|
Platyspondyly, Scoliosis, Abnormal form of the vertebral bodies |
ORPHA:93302 |
Spondyloepiphyseal Dysplasia Tarda With Mental Retardation |
|
Anterior beaking of lumbar vertebrae, Platyspondyly |
OMIM:271620 |
Atelosteogenesis, Type I |
|
Aplasia/Hypoplasia of the ulna, Short metacarpal, Short femur, Micrognathia, Short neck, 11 pairs... |
OMIM:108720 |
Brachyolmia Type 1, Toledo Type |
|
Irregular vertebral endplates, Squared-off platyspondyly, Kyphoscoliosis, Precocious costochondra... |
OMIM:271630 |
Mucopolysaccharidosis, Type Iiid |
|
Joint stiffness, Thoracic scoliosis, Hypoplastic vertebral bodies, Short neck, Ovoid thoracolumba... |
OMIM:252940 |
Diastrophic Dysplasia |
|
Kyphosis, Joint stiffness, Increased bone mineral density, Micrognathia, Camptodactyly of finger,... |
ORPHA:628 |
Craniofaciofrontodigital Syndrome |
|
Short neck, Joint hypermobility, Hypoplastic vertebral bodies |
OMIM:114620 |
Fibrochondrogenesis 1 |
|
Wide anterior fontanel, Joint contracture of the hand, Short ribs, Small hand, Platyspondyly, Sho... |
OMIM:228520 |
Osteogenesis Imperfecta, Type Xix |
|
Recurrent fractures, Osteopenia, Scoliosis, Biconcave vertebral bodies, Rhizomelia, Vertebral wed... |
OMIM:301014 |
Schneckenbecken Dysplasia |
|
Hypoplastic vertebral bodies, Short ribs, Short neck, Micromelia, Abnormal form of the vertebral ... |
ORPHA:3144 |
Osteogenesis Imperfecta, Type V |
|
Recurrent fractures, Limited pronation/supination of forearm, Hyperextensibility of the finger jo... |
OMIM:610967 |
Brachydactylous Dwarfism, Mseleni Type |
|
Short toe, Osteoarthritis of the elbow, Osteopenia, Platyspondyly, Hip osteoarthritis, Knee osteo... |
ORPHA:2619 |
Microcephalic Osteodysplastic Dysplasia, Saul-Wilson Type |
|
Small hand, Platyspondyly, Short palm, Hypoplasia of the odontoid process, Irregularity of verteb... |
ORPHA:85172 |
Pseudoachondroplasia |
|
Platyspondyly, Distal joint laxity, Joint stiffness, Scoliosis, Joint laxity, Hypoplasia of the o... |
ORPHA:750 |
Myhre Syndrome |
|
Joint stiffness, Short toe, Platyspondyly, Enlarged vertebral pedicles, Short neck, Camptodactyly... |
OMIM:139210 |
Pde4D Haploinsufficiency Syndrome |
|
Irregular vertebral endplates, Short toe, Micrognathia, Upper limb undergrowth, Caudal interpedic... |
ORPHA:439822 |
Pyle Disease |
|
Reduced bone mineral density, Platyspondyly, Scoliosis, Limited elbow extension, Hypoplastic fron... |
OMIM:265900 |
Atelosteogenesis, Type Ii |
|
Lumbar hyperlordosis, Increased intervertebral space, Horizontal sacrum, Micrognathia, Platyspond... |
OMIM:256050 |
Spondylometaphyseal Dysplasia, A4 Type |
|
Short palm, Platyspondyly, Micromelia, Limitation of joint mobility |
ORPHA:168555 |
Kuskokwim Syndrome |
|
Joint stiffness, Aplasia/Hypoplasia of the patella, Scoliosis, Abnormal form of the vertebral bod... |
ORPHA:1149 |
Brachyolmia Type 2 |
|
Platyspondyly |
OMIM:613678 |
Cartilage-Hair Hypoplasia |
|
Lumbar hyperlordosis, Narrow vertebral interpedicular distance, Scoliosis, Limited elbow extensio... |
OMIM:250250 |
Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome |
|
Posterior fusion of lumbosacral vertebrae, Joint stiffness, Abnormal form of the vertebral bodies... |
ORPHA:2064 |
Spondyloepiphyseal Dysplasia Tarda |
|
Abnormally ossified vertebrae, Short neck, Platyspondyly, Biconcave vertebral bodies, Interverteb... |
ORPHA:93284 |
Alagille Syndrome |
|
Vertebral segmentation defect, Short distal phalanx of finger, Micrognathia, Abnormal form of the... |
ORPHA:52 |
Multiple Sulfatase Deficiency |
|
Hypoplastic vertebral bodies |
OMIM:272200 |
Bruck Syndrome 1 |
|
Kyphosis, Hip contracture, Platyspondyly, Scoliosis, Osteoporosis, Joint laxity, Elbow flexion co... |
OMIM:259450 |
Spondyloepiphyseal Dysplasia, Maroteaux Type |
|
Platyspondyly |
OMIM:184095 |
Gm1 Gangliosidosis Type 1 |
|
Beaking of vertebral bodies T12-L3, Platyspondyly, Hypoplastic vertebral bodies |
ORPHA:79255 |
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Aplasia/Hypoplasia involving bones of the thorax, Rhizomelic leg shortening, Short ribs, Microgna... |
ORPHA:397715 |
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly |
|
Platyspondyly, Short middle phalanx of the 2nd finger, Short 5th metacarpal, Osteoporosis of vert... |
OMIM:156510 |
Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant |
|
Irregular vertebral endplates, Kyphoscoliosis, Lumbar hyperlordosis, Platyspondyly, Short neck, A... |
OMIM:184100 |
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects |
|
Short clavicles, Flexion contracture, Short ribs, Absent middle phalanx of 3rd finger, Micrognath... |
OMIM:308050 |
Morquio Syndrome C |
|
Platyspondyly |
OMIM:252300 |
Spondyloepimetaphyseal Dysplasia, Sponastrime Type |
|
Laryngotracheomalacia, Kyphoscoliosis, Lumbar hyperlordosis, Delayed ossification of carpal bones... |
OMIM:271510 |
Metatropic Dysplasia |
|
Kyphosis, Kyphoscoliosis, Relatively short spine, Flexion contracture, Short ribs, Platyspondyly,... |
OMIM:156530 |
Pseudodiastrophic Dysplasia |
|
Lumbar hyperlordosis, Tongue-like lumbar vertebral deformities, Micrognathia, Platyspondyly, Shor... |
OMIM:264180 |
Spondyloepiphyseal Dysplasia, Kimberley Type |
|
Osteoarthritis, Platyspondyly, Micromelia |
ORPHA:93283 |
Rhizomelic Dysplasia, Ain-Naz Type |
|
Short femur, Short humerus, Platyspondyly, Hypoplasia of the femoral head, Short femoral neck, Rh... |
OMIM:619598 |
Acrodysostosis With Multiple Hormone Resistance |
|
Spinal canal stenosis, Short toe, Hypoplastic vertebral bodies, Narrow vertebral interpedicular d... |
ORPHA:280651 |
Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Lumbar hyperlordosis, Hypoplastic sacrum, Osteoarthritis, Platyspondyly, Limited elbow extension,... |
OMIM:271650 |
Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes |
|
Irregular vertebral endplates, Kyphoscoliosis, Platyspondyly, Lumbar scoliosis, Lower limb underg... |
OMIM:612847 |
Stuve-Wiedemann Syndrome 2 |
|
Scoliosis, Neonatal death, Death in adolescence, Camptodactyly, Stillbirth |
OMIM:619751 |
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive |
|
Hip osteoarthritis, Osteoarthritis, Platyspondyly |
OMIM:271600 |
Mucolipidosis Ii Alpha/Beta |
|
Atlantoaxial dislocation, Craniosynostosis, Lower thoracic interpediculate narrowness, Beaking of... |
OMIM:252500 |
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations |
|
Short neck, Hypoplasia of the ulna, Rhizomelia, Generalized bone demineralization, Intervertebral... |
OMIM:143095 |
Osteogenesis Imperfecta, Type Ix |
|
Recurrent fractures, Kyphosis, Decreased calvarial ossification, Platyspondyly, Scoliosis, Short ... |
OMIM:259440 |
Hypochondroplasia |
|
Spinal canal stenosis, Short toe, Osteoarthritis, Scoliosis, Abnormal form of the vertebral bodie... |
ORPHA:429 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Hip contracture, Flexion contracture, Short femur, Micrognathia, Platyspondyly, Short neck, 11 pa... |
OMIM:210710 |
Osteogenesis Imperfecta, Type Vi |
|
Beaking of vertebral bodies, Biconcave vertebral bodies, Joint laxity, Increased susceptibility t... |
OMIM:613982 |
Acrofacial Dysostosis, Palagonia Type |
|
Scoliosis, Spina bifida occulta at S1, Short 4th metacarpal, Abnormal vertebral morphology, Hypop... |
OMIM:601829 |
Kbg Syndrome |
|
Short neck, Vertebral arch anomaly, Thoracic kyphosis, Short palm, Vertebral fusion |
OMIM:148050 |
Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Platyspondyly, Premature osteoarthritis, Limb joint contracture, Abnormal enchondral ossification... |
ORPHA:93314 |
Multiple Epiphyseal Dysplasia Type 4 |
|
Upper limb undergrowth, Rhizomelia, Premature osteoarthritis, Joint stiffness, Flexion contractur... |
ORPHA:93307 |
Orofaciodigital Syndrome Xi |
|
Kyphoscoliosis, Hypoplasia of the odontoid process |
OMIM:612913 |
Eiken Syndrome |
|
Delayed epiphyseal ossification, Short toe, Abnormal bone ossification, Abnormal trabecular bone ... |
ORPHA:79106 |
Osteopetrosis, Autosomal Dominant 2 |
|
Recurrent fractures, Mandibular osteomyelitis, Osteopetrosis, Fractures of the long bones, Abnorm... |
OMIM:166600 |
Smith-Mccort Dysplasia 1 |
|
Kyphosis, Beaking of vertebral bodies, Multicentric femoral head ossification, Atlantoaxial insta... |
OMIM:607326 |
X-Linked Dominant Chondrodysplasia Punctata |
|
Kyphoscoliosis, Anterior rib punctate calcifications, Flexion contracture, Abnormally ossified ve... |
ORPHA:35173 |
Hajdu-Cheney Syndrome |
|
Short distal phalanx of finger, Kyphosis, Recurrent fractures, Short toe, Absent frontal sinuses,... |
ORPHA:955 |
Neural Tube Defects, Susceptibility To |
|
Asymmetry of spinal facet joints, Sacral dimple, Absence of the sacrum, Spina bifida occulta |
OMIM:182940 |
Bruck Syndrome |
|
Recurrent fractures, Kyphosis, Joint stiffness, Platyspondyly, Scoliosis, Osteoporosis, Arthrogry... |
ORPHA:2771 |
Osteogenesis Imperfecta, Type Xv |
|
Recurrent fractures, Platyspondyly, Scoliosis, Joint hypermobility, Bowing of limbs due to multip... |
OMIM:615220 |
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type |
|
Laryngotracheomalacia, Delayed ossification of carpal bones, Abnormally ossified vertebrae, Cervi... |
ORPHA:93346 |
Lethal Congenital Contracture Syndrome 1 |
|
Arthrogryposis multiplex congenita, Micrognathia, Neonatal death, Widening of cervical spinal canal |
OMIM:253310 |
Brachydactyly, Type B1 |
|
Wide anterior fontanel, Joint contracture of the hand, Hypoplastic sacrum, Hemivertebrae, Camptod... |
OMIM:113000 |
Atelosteogenesis Type Iii |
|
Laryngotracheomalacia, Absent humerus, Micrognathia, Short tibia, Abnormal cervical curvature, Ep... |
ORPHA:56305 |
Spondyloepiphyseal Dysplasia Tarda, X-Linked |
|
Hump-shaped mound of bone in central and posterior portions of vertebral endplate, Kyphosis, Lumb... |
OMIM:313400 |
Spondyloepimetaphyseal Dysplasia, Strudwick Type |
|
Platyspondyly, Scoliosis, Hyperlordosis, C1-C2 subluxation, Hypoplasia of the odontoid process, D... |
OMIM:184250 |
Calvarial Doughnut Lesions With Bone Fragility |
|
Recurrent fractures, Osteopenia, Platyspondyly, Scoliosis, Osteoporosis |
OMIM:126550 |
Geroderma Osteodysplastica |
|
Beaking of vertebral bodies, Recurrent fractures, Abnormal bone ossification, Platyspondyly, Bico... |
ORPHA:2078 |
Atelosteogenesis Type Ii |
|
Short metacarpal, Short ribs, Short femur, Micrognathia, Short neck, Micromelia, Rhizomelic arm s... |
ORPHA:56304 |
Rhizomelic Dysplasia, Patterson-Lowry Type |
|
Platyspondyly, Short humerus, Rhizomelia, Short metatarsal, Short metacarpal |
OMIM:601438 |
Microphthalmia, Syndromic 3 |
|
Butterfly vertebrae, Hemivertebrae, Vertebral hypoplasia, Missing ribs, Vertebral fusion |
OMIM:206900 |
Pseudoachondroplasia |
|
Limited hip extension, Kyphosis, Beaking of vertebral bodies, Lumbar hyperlordosis, Delayed epiph... |
OMIM:177170 |
Spondyloepiphyseal Dysplasia Congenita |
|
Kyphosis, Lumbar hyperlordosis, Atlantoaxial instability, Delayed calcaneal ossification, Platysp... |
OMIM:183900 |
Metaphyseal Acroscyphodysplasia |
|
Short toe, Craniosynostosis, Platyspondyly, Biconcave vertebral bodies, Scoliosis, Micromelia, Sh... |
OMIM:250215 |
Spondyloepiphyseal Dysplasia Congenita |
|
Laryngotracheomalacia, Kyphosis, Lumbar hyperlordosis, Back pain, Spinal rigidity, Abnormally oss... |
ORPHA:94068 |
Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Kyphoscoliosis, Delayed ossification of carpal bones, Short neck, Platyspondyly, Scoliosis, Carpa... |
OMIM:184252 |
Camptodactyly Syndrome, Guadalajara, Type I |
|
Lumbar hyperlordosis, Absent ethmoidal sinuses, Short metatarsal, Horizontal sacrum, Camptodactyl... |
OMIM:211910 |
Bruck Syndrome 2 |
|
Flexion contracture, Osteopenia, Platyspondyly, Elbow flexion contracture, Increased susceptibili... |
OMIM:609220 |
Wiedemann-Rautenstrauch Syndrome |
|
Kyphoscoliosis, Hypoplastic vertebral bodies, Short femur, Osteopenia, Camptodactyly of finger, S... |
ORPHA:3455 |
Larsen Syndrome |
|
Beaking of vertebral bodies, Short metacarpal, Tracheomalacia, Spondylolysis, Scoliosis, Spina bi... |
OMIM:150250 |
Osteogenesis Imperfecta, Type Xvii |
|
Platyspondyly, Scoliosis, Osteoporosis, Vertebral compression fracture |
OMIM:616507 |
Mucopolysaccharidosis, Type Iva |
|
Kyphosis, Anterior beaking of lumbar vertebrae, Platyspondyly, Short neck, Scoliosis, Osteoporosi... |
OMIM:253000 |
Czech Dysplasia |
|
Irregular vertebral endplates, Short toe, Short metacarpal, Flexion contracture, Platyspondyly, S... |
OMIM:609162 |
Diamond-Blackfan Anemia 1 |
|
Hypoplastic coccygeal vertebrae, Absent thumb, Hypoplasia of the radius, Micrognathia, Hypoplasti... |
OMIM:105650 |
Geroderma Osteodysplasticum |
|
Irregular vertebral endplates, Beaking of vertebral bodies, Kyphoscoliosis, Recurrent fractures, ... |
OMIM:231070 |
Kniest Dysplasia |
|
Laryngotracheomalacia, Joint stiffness, Delayed epiphyseal ossification, Flexion contracture of f... |
ORPHA:485 |
Mucopolysaccharidosis, Type Ivb |
|
Kyphosis, Platyspondyly, Scoliosis, Osteoporosis, Hyperlordosis, Joint laxity, Ovoid vertebral bo... |
OMIM:253010 |
Femoral-Facial Syndrome |
|
Short fifth metatarsal, Dysplastic sacrum, Short fourth metatarsal, Hemivertebrae, Micrognathia, ... |
OMIM:134780 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Coronal craniosynostosis, Contracture of the distal interphalangeal joint of the fingers, Microgn... |
ORPHA:83617 |
Campomelic Dysplasia |
|
Poorly ossified cervical vertebrae, Short 1st metacarpal, 11 pairs of ribs, Absent sternal ossifi... |
OMIM:114290 |
Osteogenesis Imperfecta, Type Viii |
|
Kyphosis, Recurrent fractures, Wide anterior fontanel, Short metacarpal, Osteopenia, Decreased ca... |
OMIM:610915 |
Dyggve-Melchior-Clausen Syndrome, X-Linked |
|
Lumbar hyperlordosis, Hypoplastic sacrum, Platyspondyly, Short neck, Scoliosis, Short femoral nec... |
OMIM:304950 |
White-Sutton Syndrome |
|
Micrognathia, Short neck, Joint laxity, Hypoplastic cervical vertebrae |
OMIM:616364 |
Alagille Syndrome 1 |
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Hypoplasia of the ulna, Hemivertebrae, Butterfly vertebral arch, Short distal phalanx of finger |
OMIM:118450 |
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus |
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Irregular vertebral endplates, Irregular tarsal ossification, Ivory epiphyses of the phalanges of... |
OMIM:226980 |
Achondrogenesis, Type Ia |
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Short clavicles, Severe limb shortening, Hypoplastic sacrum, Hypoplasia of the radius, Short ribs... |
OMIM:200600 |
Dyggve-Melchior-Clausen Disease |
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Kyphosis, Beaking of vertebral bodies, Lumbar hyperlordosis, Short metatarsal, Short metacarpal, ... |
OMIM:223800 |
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities |
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Micrognathia, Arthrogryposis multiplex congenita, Hypoplastic coccygeal vertebrae |
OMIM:619512 |
Smith-Mccort Dysplasia 2 |
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Short neck, Platyspondyly, Hypoplasia of the odontoid process, Short metatarsal, Short metacarpal |
OMIM:615222 |
Mucopolysaccharidosis, Type Vii |
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Kyphosis, Joint stiffness, Flexion contracture, Anterior beaking of lumbar vertebrae, Platyspondy... |
OMIM:253220 |
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy |
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Flexion contracture, Platyspondyly, Short neck, Short femoral neck, Thoracic kyphosis, Hypoplasia... |
OMIM:300232 |
Dyggve-Melchior-Clausen Disease |
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Beaking of vertebral bodies, Atlantoaxial instability, Abnormality of the vertebral endplates, Pl... |
ORPHA:239 |
Iniencephaly |
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Hyperlordosis, Rhizomelia, Mandibular aplasia, Absent vertebra, Arthrogryposis multiplex congenita |
ORPHA:63259 |
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia |
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Spinal canal stenosis, Delayed epiphyseal ossification, Flexion contracture, Osteopenia, Microgna... |
OMIM:616007 |
Multiple Synostoses Syndrome 1 |
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Spinal canal stenosis, Carpal synostosis, Proximal/middle symphalangism of 4th toe, Short sternum... |
OMIM:186500 |
Aarskog-Scott Syndrome |
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Hyperextensibility of the finger joints, Short neck, Scoliosis, Short 5th finger, Joint laxity, S... |
OMIM:305400 |
Hurler Syndrome |
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Kyphosis, Joint stiffness, Short clavicles, Flexion contracture, Calvarial hyperostosis, Short ne... |
OMIM:607014 |
Mayer-Rokitansky-Küster-Hauser Syndrome |
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Vertebral segmentation defect, Vertebral fusion, Abnormal sacrum morphology, Abnormal form of the... |
ORPHA:3109 |
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
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Kyphosis, Lumbar hyperlordosis, Increased intervertebral space, Craniosynostosis, Cervical instab... |
ORPHA:508533 |
Fanconi Anemia, Complementation Group C |
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Absent thumb, Flexion contracture, Short thumb, Prolonged G2 phase of cell cycle, Absent radius, ... |
OMIM:227645 |
Spondylocarpotarsal Synostosis Syndrome |
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Vertebral segmentation defect, Carpal synostosis, C2-C3 subluxation, Short neck, Scoliosis, Hypop... |
OMIM:272460 |
Currarino Syndrome |
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Sacrococcygeal teratoma, Aplasia/Hypoplasia of the sacrum |
ORPHA:1552 |
Codas Syndrome |
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Delayed ossification of carpal bones, Generalized joint laxity, Short humerus, Scoliosis, Lumbar ... |
OMIM:600373 |
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type |
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Short ribs, Atlantoaxial instability, Micrognathia, Platyspondyly, Scoliosis, Micromelia, Abnorma... |
OMIM:271665 |
Mucopolysaccharidosis, Type Vi |
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Joint stiffness, Kyphoscoliosis, Lumbar hyperlordosis, Flexion contracture, Ovoid vertebral bodie... |
OMIM:253200 |
Spondyloepimetaphyseal Dysplasia, X-Linked |
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Kyphosis, Short clavicles, Lumbar hyperlordosis, Delayed ossification of carpal bones, Anterior w... |
OMIM:300106 |
Craniofacial Microsomia |
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Hemivertebrae, Micrognathia, Scoliosis, Vertebral hypoplasia, Block vertebrae |
OMIM:164210 |
Phocomelia, Schinzel Type |
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Aplasia of the ulna, Hand oligodactyly, Hypoplasia of the radius, Micrognathia, Short neck, Micro... |
ORPHA:2879 |
Fanconi Anemia, Complementation Group E |
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Absent radius, Short thumb, Prolonged G2 phase of cell cycle, Absent thumb |
OMIM:600901 |
Fanconi Anemia, Complementation Group A |
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Absent radius, Short thumb, Prolonged G2 phase of cell cycle, Absent thumb |
OMIM:227650 |
Fanconi Anemia, Complementation Group D2 |
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Absent thumb, Short thumb, Prolonged G2 phase of cell cycle, Aplasia of the 1st metacarpal, Absen... |
OMIM:227646 |
Mosaic Variegated Aneuploidy Syndrome |
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Neoplasm, Stomach cancer, Nephroblastoma, Rhabdomyosarcoma, Myelodysplasia, Intestinal polyposis,... |
ORPHA:1052 |
Mosaic Variegated Aneuploidy Syndrome 2 |
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Micrognathia, Rhizomelia, Craniosynostosis |
OMIM:614114 |