Spinal Dysplasia, Anhalt Type |
|
Osteoarthritis of the small joints of the hand, Thoracolumbar scoliosis, Absent spinous processes... |
OMIM:601344 |
Cervical Vertebral Dysplasia |
|
Cervical vertebral dysplasia, Cervical vertebral facet hypoplasia, Anterior atlanto-occipital dis... |
OMIM:118005 |
Vertebral Hypoplasia With Lumbar Kyphosis |
|
Vertebral hypoplasia, Lumbar kyphosis |
OMIM:192900 |
Holoprosencephaly, Semilobar, With Craniosynostosis |
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Hypoplastic vertebral bodies, Coronal craniosynostosis, Lambdoidal craniosynostosis, Short distal... |
OMIM:601370 |
Odontoid Hypoplasia |
|
Hypoplasia of the odontoid process, Atlantoaxial instability, Cervical instability, Dystopic os o... |
OMIM:613628 |
Dysosteosclerosis |
|
Craniofacial hyperostosis, Increased bone mineral density, Recurrent fractures, Hypoplastic verte... |
ORPHA:1782 |
Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Joint laxity, Lumbar hyperlordosis, Micromelia, Short neck, Delayed epiphyseal ossification, Plat... |
OMIM:602557 |
Fibrodysplasia Ossificans Progressiva |
|
Small cervical vertebral bodies, Progressive cervical vertebral spine fusion, Ectopic ossificatio... |
OMIM:135100 |
Osteomesopyknosis |
|
Increased bone mineral density, Sclerotic vertebral body, Kyphosis, Abnormal form of the vertebra... |
ORPHA:2777 |
Gurrieri Syndrome |
|
Decreased anterioposterior diameter of lumbar vertebral bodies |
OMIM:601187 |
Spondylometaphyseal Dysplasia, Corner Fracture Type |
|
Ovoid vertebral bodies, Hypoplasia of the odontoid process, Hyperconvex vertebral body endplates,... |
OMIM:184255 |
Hypochondroplasia |
|
Widened interpedicular distance, Lumbar hyperlordosis, Aplasia/hypoplasia of the extremities, Sho... |
OMIM:146000 |
Tumor Predisposition Syndrome 1 |
|
Uveal melanoma, Renal cell carcinoma, Cutaneous melanoma, Malignant mesothelioma, Lung adenocarci... |
OMIM:614327 |
Dental Anomalies And Short Stature |
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Platyspondyly, Herniation of intervertebral nuclei, Scoliosis, Narrow vertebral interpedicular di... |
OMIM:601216 |
Dysosteosclerosis |
|
Osteopenia, Sclerosis of hand bone, Sclerotic scapulae, Micrognathia, Increased intervertebral sp... |
OMIM:224300 |
Cervical Vertebrae, Agenesis Of |
|
Cervical vertebral agenesis |
OMIM:214290 |
Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Joint laxity, Short neck, Hyperlordosis, Delayed epiphyseal ossification, Premature osteoarthriti... |
ORPHA:93352 |
Metatropic Dysplasia |
|
Abnormal intervertebral disk morphology, Camptodactyly of finger, Micromelia, Joint stiffness, Ab... |
ORPHA:2635 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3 |
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Joint laxity, Hypoplasia of the ulna, Short neck, Irregular vertebral endplates, Platyspondyly, D... |
OMIM:618395 |
Richieri Costa-Da Silva Syndrome |
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Kyphoscoliosis, Short neck, Limitation of joint mobility, Vertebral wedging, Decreased anteriopos... |
ORPHA:3101 |
Gm1-Gangliosidosis, Type Ii |
|
Joint stiffness, Hypoplastic vertebral bodies, Platyspondyly, Limb undergrowth, Scoliosis, Thorac... |
OMIM:230600 |
Greenberg Dysplasia |
|
Micromelia, Micrognathia, Multiple prenatal fractures, Patchy variation in bone mineral density, ... |
OMIM:215140 |
Infantile Liver Failure Syndrome 3 |
|
Hypoplastic vertebral bodies, Beaking of vertebral bodies, Platyspondyly, Death in childhood |
OMIM:618641 |
Schneckenbecken Dysplasia |
|
Hypoplastic scapulae, Ovoid vertebral bodies, Short neck, Advanced ossification of carpal bones, ... |
OMIM:269250 |
Acromesomelic Dysplasia, Maroteaux Type |
|
Ovoid vertebral bodies, Hyperlordosis, Joint stiffness, Kyphosis, Abnormal form of the vertebral ... |
ORPHA:40 |
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome |
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Vertebral fusion, Kyphosis, Hemivertebrae, Abnormal form of the vertebral bodies, Hypoplastic ver... |
ORPHA:2916 |
Diastrophic Dysplasia |
|
Hip contracture, Lumbar hyperlordosis, Cervical kyphosis, Kyphoscoliosis, Costal cartilage calcif... |
OMIM:222600 |
Gm1-Gangliosidosis, Type I |
|
Death in infancy, Short neck, Joint stiffness, Kyphosis, Hypoplastic vertebral bodies, Scoliosis,... |
OMIM:230500 |
Caudal Regression Syndrome |
|
Joint stiffness, Missing ribs, Cryptorchidism, Aplasia/Hypoplasia of the sacrum, Hypoplastic vert... |
ORPHA:3027 |
Osteoarthritis With Mild Chondrodysplasia |
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Joint stiffness, Knee osteoarthritis, Schmorl's node, Irregular vertebral endplates, Platyspondyl... |
OMIM:604864 |
Lethal Kniest-Like Dysplasia |
|
Short neck, Mesomelic/rhizomelic limb shortening, Wide anterior fontanel, Hypoplastic vertebral b... |
ORPHA:2347 |
Brachytelephalangic Chondrodysplasia Punctata |
|
Butterfly vertebrae, Short distal phalanx of finger, Calcaneal epiphyseal stippling, Cervical kyp... |
ORPHA:79345 |
Craniometadiaphyseal Dysplasia, Wormian Bone Type |
|
Osteopenia, Increased bone mineral density, Micrognathia, Wide anterior fontanel, Vertebral arch ... |
ORPHA:85184 |
Acrodysostosis 1 With Or Without Hormone Resistance |
|
Short metacarpal, Cryptorchidism, Neonatal epiphyseal stippling, Short metatarsal, Spinal canal s... |
OMIM:101800 |
Lung Cancer |
|
Alveolar cell carcinoma, Lung adenocarcinoma, Non-small cell lung carcinoma |
OMIM:211980 |
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type |
|
Lumbar hyperlordosis, Decreased hip abduction, Irregular vertebral endplates, Platyspondyly, Thor... |
OMIM:609223 |
Brachyolmia Type 1, Hobaek Type |
|
Osteopenia, Back pain, Short neck, Kyphosis, Squared-off platyspondyly, Short femoral neck, Scoli... |
OMIM:271530 |
Holoprosencephaly-Craniosynostosis Syndrome |
|
Hypoplastic vertebral bodies, Craniosynostosis, Short distal phalanx of finger |
ORPHA:2163 |
Spondyloepiphyseal Dysplasia, Stanescu Type |
|
Stiff neck, Kyphoscoliosis, Joint stiffness, Vertebral wedging, Platyspondyly, Beaking of vertebr... |
OMIM:616583 |
Opsismodysplasia |
|
Hypoplastic vertebral bodies, Abnormally ossified vertebrae, Joint stiffness |
ORPHA:2746 |
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type |
|
Vertebral fusion, Biconvex vertebral bodies, Lumbar hyperlordosis, Short lower limbs, Ovoid verte... |
ORPHA:93315 |
Spondylocamptodactyly Syndrome |
|
Platyspondyly, Camptodactyly of finger, Scoliosis |
ORPHA:3180 |
Axial Spondylometaphyseal Dysplasia |
|
Osteopenia, Aplasia/Hypoplasia of the vertebrae, Thoracic scoliosis, Aplasia/Hypoplasia of the ri... |
ORPHA:168549 |
Opsismodysplasia |
|
Short metacarpal, Rhizomelia, Short neck, Hypoplasia of the odontoid process, Hypoplastic vertebr... |
OMIM:258480 |
Spondylocostal Dysostosis 3, Autosomal Recessive |
|
Contracture of the proximal interphalangeal joint of the 2nd finger, Kyphosis, Hypoplasia of the ... |
OMIM:609813 |
Greenberg Dysplasia |
|
Abnormally ossified vertebrae, Rhizomelia, Micromelia, Micrognathia, Abnormal pelvis bone ossific... |
ORPHA:1426 |
Atelosteogenesis, Type I |
|
11 pairs of ribs, Short humerus, Short metacarpal, Short femur, Rhizomelia, Short neck, Thoracic ... |
OMIM:108720 |
Diastrophic Dysplasia |
|
Increased bone mineral density, Camptodactyly of finger, Micromelia, Joint stiffness, Micrognathi... |
ORPHA:628 |
Endosteal Hyperostosis, Worth Type |
|
Craniofacial hyperostosis, Sclerotic vertebral body, Generalized osteosclerosis, Abnormal form of... |
ORPHA:2790 |
Congenital Amegakaryocytic Thrombocytopenia |
|
Decreased skull ossification, Scoliosis, Abnormal form of the vertebral bodies, Short neck |
ORPHA:3319 |
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities |
|
11 pairs of ribs, Micrognathia, Short neck, Cryptorchidism, Short distal phalanx of the 5th finge... |
OMIM:620073 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2 |
|
Joint laxity, Delayed phalangeal epiphyseal ossification, Delayed patellar ossification, Irregula... |
OMIM:603546 |
Achondroplasia |
|
Death in infancy, Lumbar hyperlordosis, Limited hip extension, Rhizomelia, Short femur, Generaliz... |
OMIM:100800 |
Fetal Akinesia Deformation Sequence 4 |
|
11 pairs of ribs, Short neck, Micrognathia, Cryptorchidism, Kyphosis, Prenatal death, Camptodacty... |
OMIM:618393 |
Schneckenbecken Dysplasia |
|
Hypoplastic scapulae, Micromelia, Short neck, Cryptorchidism, Abnormal form of the vertebral bodi... |
ORPHA:3144 |
Spondyloepiphyseal Dysplasia Tarda, Kohn Type |
|
Platyspondyly, Abnormal vertebral morphology, Restricted large joint movement |
ORPHA:163665 |
Autosomal Dominant Brachyolmia |
|
Increased vertebral height, Platyspondyly, Kyphoscoliosis |
ORPHA:93304 |
Acromesomelic Dysplasia 1 |
|
Joint laxity, Short metacarpal, Lumbar hyperlordosis, Ovoid vertebral bodies, Short toe, Hypoplas... |
OMIM:602875 |
Epiphyseal Dysplasia, Multiple, 7 |
|
Platyspondyly, Short femoral neck, Advanced ossification of carpal bones, Vertebral wedging |
OMIM:617719 |
Osteogenesis Imperfecta |
|
Osteopenia, Cervical kyphosis, Micromelia, Micrognathia, Osteoarthritis, Flexion contracture, Abn... |
ORPHA:666 |
Spondyloepiphyseal Dysplasia Tarda With Mental Retardation |
|
Platyspondyly, Anterior beaking of lumbar vertebrae |
OMIM:271620 |
Brachyolmia Type 1, Toledo Type |
|
Back pain, Kyphoscoliosis, Short neck, Precocious costochondral ossification, Irregular vertebral... |
OMIM:271630 |
Leukodystrophy, Hypomyelinating, 26, With Chondrodysplasia |
|
Joint laxity, Advanced ossification of carpal bones, Lumbar scoliosis, Scoliosis, Hypoplastic cer... |
OMIM:620269 |
Second Metatarsal-Metacarpal Syndrome |
|
Platyspondyly, Synostosis of carpals/tarsals |
OMIM:269630 |
Brachyolmia, Maroteaux Type |
|
Platyspondyly, Scoliosis, Abnormal form of the vertebral bodies |
ORPHA:93302 |
Mucopolysaccharidosis, Type Iiid |
|
Thoracic scoliosis, Pilonidal sinus, Short neck, Joint stiffness, Achilles tendon contracture, El... |
OMIM:252940 |
Spondyloepimetaphyseal Dysplasia, Sponastrime Type |
|
Osteopenia, Lumbar hyperlordosis, Rhizomelia, Kyphoscoliosis, Platyspondyly, Thoracic kyphosis, D... |
OMIM:271510 |
Fibrochondrogenesis 1 |
|
Short palm, Hypoplastic scapulae, Rhizomelia, Short neck, Wide anterior fontanel, Small hand, Fib... |
OMIM:228520 |
Spondyloepimetaphyseal Dysplasia, Di Rocco Type |
|
Platyspondyly, Delayed ossification of carpal bones, Reduced bone mineral density |
OMIM:617974 |
Li-Fraumeni Syndrome |
|
Neoplasm of the pancreas, Adrenocortical carcinoma, Soft tissue sarcoma, Breast carcinoma, Acute ... |
OMIM:151623 |
Myhre Syndrome |
|
Vertebral fusion, Joint stiffness, Short neck, Cryptorchidism, Short toe, Limitation of joint mob... |
OMIM:139210 |
Pseudoachondroplasia |
|
Limited hip extension, Distal joint laxity, Generalized joint laxity, Delayed epiphyseal ossifica... |
ORPHA:750 |
Pde4D Haploinsufficiency Syndrome |
|
Joint laxity, Short metacarpal, Micrognathia, Cryptorchidism, Short toe, Short metatarsal, Upper ... |
ORPHA:439822 |
Gm1 Gangliosidosis Type 1 |
|
Hypoplastic vertebral bodies, Platyspondyly, Beaking of vertebral bodies T12-L3 |
ORPHA:79255 |
Osteogenesis Imperfecta, Type V |
|
Osteopenia, Hyperextensibility of the finger joints, Recurrent fractures, Vertebral wedging, Plat... |
OMIM:610967 |
Microcephalic Osteodysplastic Dysplasia, Saul-Wilson Type |
|
Irregularity of vertebral bodies, Hypoplasia of the odontoid process, Small hand, Platyspondyly, ... |
ORPHA:85172 |
Pyle Disease |
|
Hypoplastic frontal sinuses, Reduced bone mineral density, Platyspondyly, Absent paranasal sinuse... |
OMIM:265900 |
Alagille Syndrome |
|
Hypoplasia of the ulna, Micrognathia, Cryptorchidism, Abnormal form of the vertebral bodies, Vert... |
ORPHA:52 |
Multiple Sulfatase Deficiency |
|
Hypoplastic vertebral bodies |
OMIM:272200 |
Spondylometaphyseal Dysplasia, A4 Type |
|
Platyspondyly, Limitation of joint mobility, Micromelia, Short palm |
ORPHA:168555 |
Kuskokwim Syndrome |
|
Aplasia/Hypoplasia of the patella, Joint stiffness, Abnormal form of the vertebral bodies, Aplasi... |
ORPHA:1149 |
Atelosteogenesis, Type Ii |
|
Death in infancy, Lumbar hyperlordosis, Cervical kyphosis, Micromelia, Short neck, Increased inte... |
OMIM:256050 |
Brachyolmia Type 2 |
|
Platyspondyly |
OMIM:613678 |
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Small cervical vertebral bodies, Micrognathia, Rhizomelic leg shortening, Twelfth rib hypoplasia,... |
ORPHA:397715 |
Bruck Syndrome 1 |
|
Joint laxity, Hip contracture, Ankle flexion contracture, Kyphosis, Osteoporosis, Elbow flexion c... |
OMIM:259450 |
Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome |
|
Sacral dimple, Tarsal synostosis, Joint stiffness, Abnormal form of the vertebral bodies, Posteri... |
ORPHA:2064 |
Brachydactylous Dwarfism, Mseleni Type |
|
Osteopenia, Short toe, Limitation of joint mobility, Knee osteoarthritis, Platyspondyly, Hip oste... |
ORPHA:2619 |
Cartilage-Hair Hypoplasia |
|
Joint laxity, Lumbar hyperlordosis, Hypoplasia of the odontoid process, Scoliosis, Short palm, Na... |
OMIM:250250 |
Spondyloepiphyseal Dysplasia, Maroteaux Type |
|
Platyspondyly |
OMIM:184095 |
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects |
|
Aplasia of the distal phalanx of the 2nd finger, Hypoplastic scapulae, Micrognathia, Absent middl... |
OMIM:308050 |
Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant |
|
Lumbar hyperlordosis, Kyphoscoliosis, Short neck, Hypoplasia of the odontoid process, Arthritis, ... |
OMIM:184100 |
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly |
|
Short middle phalanx of the 2nd finger, Multiple small vertebral fractures, Platyspondyly, Short ... |
OMIM:156510 |
Morquio Syndrome C |
|
Platyspondyly |
OMIM:252300 |
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
|
Kyphosis, Platyspondyly, Osteoporosis |
ORPHA:2786 |
Pseudodiastrophic Dysplasia |
|
Lumbar hyperlordosis, Rhizomelia, Short neck, Micrognathia, Hypoplasia of the odontoid process, P... |
OMIM:264180 |
Dysspondyloenchondromatosis |
|
Kyphoscoliosis, Osteoarthritis, Generalized joint laxity, Vertebral segmentation defect, Platyspo... |
ORPHA:85198 |
Metatropic Dysplasia |
|
Relatively short spine, Kyphoscoliosis, Abnormal enchondral ossification, Hypoplasia of the odont... |
OMIM:156530 |
Spondyloepiphyseal Dysplasia Tarda |
|
Back pain, Osteoarthritis of the distal interphalangeal joint, Limited elbow movement, Short neck... |
ORPHA:93284 |
Spondyloepiphyseal Dysplasia, Kimberley Type |
|
Osteoarthritis, Platyspondyly, Micromelia |
ORPHA:93283 |
Rhizomelic Dysplasia, Ain-Naz Type |
|
Short humerus, Short femur, Hypoplasia of the femoral head, Rhizomelia, Limitation of joint mobil... |
OMIM:619598 |
Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes |
|
Kyphoscoliosis, Irregular vertebral endplates, Platyspondyly, Lumbar scoliosis, Lower limb underg... |
OMIM:612847 |
Osteogenesis Imperfecta, Type Ix |
|
Recurrent fractures, Multiple prenatal fractures, Kyphosis, Decreased calvarial ossification, Pla... |
OMIM:259440 |
Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Short metacarpal, Lumbar hyperlordosis, Hypoplastic sacrum, Capitate-hamate fusion, Osteoarthriti... |
OMIM:271650 |
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive |
|
Hip osteoarthritis, Osteoarthritis, Platyspondyly |
OMIM:271600 |
Pseudodiastrophic Dysplasia |
|
Platyspondyly, Rhizomelia, Scoliosis |
ORPHA:85174 |
Hypochondroplasia |
|
Micromelia, Hyperlordosis, Osteoarthritis, Short toe, Spinal canal stenosis, Abnormal form of the... |
ORPHA:429 |
Osteogenesis Imperfecta, Type Vi |
|
Joint laxity, Vertebral compression fracture, Increased susceptibility to fractures, Biconcave ve... |
OMIM:613982 |
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations |
|
Limited hip extension, Short neck, Flexion contracture, Irregular vertebral endplates, Hypoplasia... |
OMIM:143095 |
Mucolipidosis Ii Alpha/Beta |
|
Osteopenia, Hypoplastic scapulae, Thoracolumbar kyphoscoliosis, Craniosynostosis, Ovoid vertebral... |
OMIM:252500 |
Kbg Syndrome |
|
Vertebral fusion, Short neck, Cryptorchidism, Vertebral arch anomaly, Thoracic kyphosis, Short palm |
OMIM:148050 |
Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Increased intervertebral space, Delayed epiphyseal ossification, Short metatarsal, Thoracic kypho... |
ORPHA:93314 |
Orofaciodigital Syndrome Xi |
|
Hypoplasia of the odontoid process, Kyphoscoliosis |
OMIM:612913 |
Multiple Epiphyseal Dysplasia Type 4 |
|
Cervical kyphosis, Micrognathia, Flexion contracture, Short metatarsal, Hypoplastic cervical vert... |
ORPHA:93307 |
Eiken Syndrome |
|
Short palm, Abnormal trabecular bone morphology, Absence of the sacrum, Delayed epiphyseal ossifi... |
ORPHA:79106 |
X-Linked Dominant Chondrodysplasia Punctata |
|
Neuropathic spinal arthropathy, Abnormally ossified vertebrae, Kyphoscoliosis, Flexion contractur... |
ORPHA:35173 |
Smith-Mccort Dysplasia 1 |
|
Multicentric femoral head ossification, Short metacarpal, Hypoplastic scapulae, Short neck, Hypop... |
OMIM:607326 |
Hajdu-Cheney Syndrome |
|
Osteopenia, Recurrent fractures, Short neck, Hypoplastic 5th lumbar vertebrae, Kyphosis, Absent f... |
ORPHA:955 |
Bruck Syndrome |
|
Recurrent fractures, Joint stiffness, Kyphosis, Osteoporosis, Platyspondyly, Scoliosis, Arthrogry... |
ORPHA:2771 |
Spondyloperipheral Dysplasia-Short Ulna Syndrome |
|
Hypoplasia of the ulna, Ovoid vertebral bodies, Abnormality of the vertebral endplates, Short met... |
ORPHA:1856 |
Osteogenesis Imperfecta, Type Xv |
|
Recurrent fractures, Platyspondyly, Bowing of limbs due to multiple fractures, Scoliosis, Joint h... |
OMIM:615220 |
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type |
|
Abnormally ossified vertebrae, Restricted large joint movement, Micrognathia, Platyspondyly, Dela... |
ORPHA:93346 |
Microphthalmia, Syndromic 3 |
|
Vertebral fusion, Missing ribs, Cryptorchidism, Hemivertebrae, Butterfly vertebrae, Vertebral hyp... |
OMIM:206900 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Micromelia, Short neck, Micrognathia, Delayed epiphyseal ossification, Flexion contracture, Knee ... |
OMIM:210710 |
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness |
|
Lumbar hyperlordosis, Mesomelic arm shortening, Short foot, Irregular vertebral endplates, Platys... |
OMIM:609616 |
Atelosteogenesis Type Iii |
|
Absent humerus, Abnormal cervical curvature, Epiphyseal stippling of the humerus, Micrognathia, A... |
ORPHA:56305 |
Spondyloepiphyseal Dysplasia Tarda, X-Linked |
|
Back pain, Lumbar hyperlordosis, Short neck, Kyphosis, Limitation of joint mobility, Platyspondyl... |
OMIM:313400 |
Brachydactyly, Type B1 |
|
Vertebral fusion, Hypoplastic sacrum, Thoracolumbar scoliosis, Aplasia/Hypoplasia of the distal p... |
OMIM:113000 |
Geroderma Osteodysplastica |
|
Beaking of vertebral bodies, Recurrent fractures, Osteoporosis, Abnormal form of the vertebral bo... |
ORPHA:2078 |
Calvarial Doughnut Lesions With Bone Fragility |
|
Osteopenia, Recurrent fractures, Osteoporosis, Platyspondyly, Scoliosis |
OMIM:126550 |
Lethal Congenital Contracture Syndrome 1 |
|
Neonatal death, Arthrogryposis multiplex congenita, Widening of cervical spinal canal, Micrognathia |
OMIM:253310 |
Atelosteogenesis Type Ii |
|
Short metacarpal, Short femur, Rhizomelia, Cervical kyphosis, Thoracolumbar kyphoscoliosis, Short... |
ORPHA:56304 |
Spondylometaphyseal Dysplasia, Pagnamenta Type |
|
Thin bony cortex, Rhizomelia, Platyspondyly, Thoracic kyphosis, Short 4th metacarpal, Short 5th m... |
OMIM:619638 |
Progressive Pseudorheumatoid Arthropathy Of Childhood |
|
Irregularity of vertebral bodies, Thoracolumbar kyphoscoliosis, Hyperlordosis, Limitation of join... |
ORPHA:1159 |
Progressive Pseudorheumatoid Dysplasia |
|
Camptodactyly of finger, Kyphoscoliosis, Joint stiffness, Osteoarthritis, Osteoporosis, Platyspon... |
OMIM:208230 |
Neural Tube Defects, Susceptibility To |
|
Absence of the sacrum, Sacral dimple, Spina bifida occulta, Asymmetry of spinal facet joints |
OMIM:182940 |
Rhizomelic Dysplasia, Patterson-Lowry Type |
|
Short humerus, Short metacarpal, Rhizomelia, Short metatarsal, Platyspondyly |
OMIM:601438 |
Osteoglosphonic Dysplasia |
|
Rhizomelia, Craniosynostosis, Micrognathia, Cryptorchidism, Abnormal form of the vertebral bodies... |
ORPHA:2645 |
Spondyloepimetaphyseal Dysplasia, Strudwick Type |
|
Hyperlordosis, Hypoplasia of the odontoid process, Platyspondyly, Scoliosis, Delayed pubic bone o... |
OMIM:184250 |
Pseudoachondroplasia |
|
Joint laxity, Short metacarpal, Lumbar hyperlordosis, Limited hip extension, Hypoplasia of the od... |
OMIM:177170 |
Wiedemann-Rautenstrauch Syndrome |
|
Osteopenia, Short humerus, Short femur, Camptodactyly of finger, Irregular sclerotic endplates, K... |
ORPHA:3455 |
Larsen Syndrome |
|
Joint laxity, Vertebral fusion, Short metacarpal, Cervical kyphosis, Cryptorchidism, Short metata... |
OMIM:150250 |
Spondyloepiphyseal Dysplasia Congenita |
|
Lumbar hyperlordosis, Ovoid vertebral bodies, Limited elbow movement, Short neck, Hypoplasia of t... |
OMIM:183900 |
Spondyloepiphyseal Dysplasia Congenita |
|
Back pain, Abnormally ossified vertebrae, Lumbar hyperlordosis, Short femur, Limited elbow moveme... |
ORPHA:94068 |
Sacral Agenesis With Vertebral Anomalies |
|
Neonatal death, Absence of the sacrum, Vertebral clefting, Abnormal vertebral morphology |
OMIM:615709 |
Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Kyphoscoliosis, Short neck, Hypoplasia of the odontoid process, Elbow flexion contracture, Platys... |
OMIM:184252 |
Bruck Syndrome 2 |
|
Osteopenia, Flexion contracture, Elbow flexion contracture, Knee flexion contracture, Increased s... |
OMIM:609220 |
Anauxetic Dysplasia 1 |
|
Joint laxity, Hip contracture, Lumbar hyperlordosis, Rhizomelia, Short neck, Short toe, Elbow fle... |
OMIM:607095 |
Spondyloperipheral Dysplasia |
|
Short distal phalanx of the 4th finger, Short neck, Short metatarsal, Irregular vertebral endplat... |
OMIM:271700 |
Geroderma Osteodysplasticum |
|
Osteopenia, Hyperextensibility of the finger joints, Beaking of vertebral bodies, Recurrent fract... |
OMIM:231070 |
Mucopolysaccharidosis, Type Iva |
|
Joint laxity, Ovoid vertebral bodies, Hyperlordosis, Short neck, Hypoplasia of the odontoid proce... |
OMIM:253000 |
Femoral-Facial Syndrome |
|
Short third metatarsal, Short humerus, Short fourth metatarsal, Short fifth metatarsal, Limited e... |
OMIM:134780 |
Diamond-Blackfan Anemia 1 |
|
11 pairs of ribs, Short neck, Micrognathia, Short thumb, Absent thumb, Hypoplasia of the radius, ... |
OMIM:105650 |
Czech Dysplasia |
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Short metacarpal, Short toe, Flexion contracture, Limitation of joint mobility, Short metatarsal,... |
OMIM:609162 |
Kniest Dysplasia |
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Joint stiffness, Short neck, Hypoplasia of the odontoid process, Delayed epiphyseal ossification,... |
ORPHA:485 |
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type |
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Shortening of all metacarpals, Wide anterior fontanel, Platyspondyly, Mesomelia, Limb undergrowth |
OMIM:601356 |
Brachyolmia Type 3 |
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Short neck, Kyphosis, Platyspondyly, Short femoral neck, Scoliosis |
OMIM:113500 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
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Micrognathia, Cryptorchidism, Contracture of the distal interphalangeal joint of the fingers, Cle... |
ORPHA:83617 |
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities |
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Cryptorchidism, Hypoplastic coccygeal vertebrae, Arthrogryposis multiplex congenita, Micrognathia |
OMIM:619512 |
Osteogenesis Imperfecta, Type Xvi |
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Osteopenia, Microretrognathia, Rhizomelia, Recurrent fractures, Decreased calvarial ossification,... |
OMIM:616229 |
Osteogenesis Imperfecta, Type Viii |
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Osteopenia, Joint laxity, Short metacarpal, Recurrent fractures, Multiple prenatal fractures, Wid... |
OMIM:610915 |
White-Sutton Syndrome |
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Joint laxity, Micrognathia, Hypoplastic cervical vertebrae, Short neck |
OMIM:616364 |
Campomelic Dysplasia |
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Thoracic scoliosis, Cervical kyphosis, Micrognathia, Delayed epiphyseal ossification, Patellar hy... |
OMIM:114290 |
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus |
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Shortening of all middle phalanges of the fingers, Hyperlordosis, Hypoplasia of the odontoid proc... |
OMIM:226980 |
Dyggve-Melchior-Clausen Disease |
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Beaking of vertebral bodies, Short metacarpal, Lumbar hyperlordosis, Hypoplastic scapulae, Short ... |
OMIM:223800 |
Alagille Syndrome 1 |
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Hypoplasia of the ulna, Hemivertebrae, Butterfly vertebral arch, Short distal phalanx of finger |
OMIM:118450 |
Achondrogenesis, Type Ia |
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Hypoplastic sacrum, Hypoplastic scapulae, Micromelia, Short neck, Abnormal hand bone ossification... |
OMIM:200600 |
Smith-Mccort Dysplasia 2 |
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Short metacarpal, Hyperlordosis, Short neck, Hypoplasia of the odontoid process, Short metatarsal... |
OMIM:615222 |
Osteogenesis Imperfecta, Type X |
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Osteopenia, Joint laxity, Thoracic scoliosis, Short femur, Rhizomelia, Micromelia, Micrognathia, ... |
OMIM:613848 |
Mucopolysaccharidosis, Type Ivb |
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Joint laxity, Ovoid vertebral bodies, Hyperlordosis, Joint stiffness, Hypoplasia of the odontoid ... |
OMIM:253010 |
Osteogenesis Imperfecta, Type Xvii |
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Joint laxity, Recurrent fractures, Kyphoscoliosis, Osteoporosis, Reduced bone mineral density, Pl... |
OMIM:616507 |
Aarskog-Scott Syndrome |
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Joint laxity, Hyperextensibility of the finger joints, Short neck, Bilateral cryptorchidism, Cryp... |
OMIM:305400 |
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy |
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Kyphoscoliosis, Short neck, Hypoplasia of the odontoid process, Flexion contracture, Platyspondyl... |
OMIM:300232 |
Iniencephaly |
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Rhizomelia, Hyperlordosis, Absent vertebra, Mandibular aplasia, Arthrogryposis multiplex congenita |
ORPHA:63259 |
Bent Bone Dysplasia Syndrome 2 |
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Osteopenia, Short neck, Short tibia, Coronal cleft vertebrae, Decreased calvarial ossification, P... |
OMIM:620076 |
Saul-Wilson Syndrome |
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Short metacarpal, Micrognathia, Wide anterior fontanel, Hypoplasia of the odontoid process, Short... |
OMIM:618150 |
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia |
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Osteopenia, Hyperlordosis, Micrognathia, Hypoplasia of the odontoid process, Delayed epiphyseal o... |
OMIM:616007 |
Dyggve-Melchior-Clausen Disease |
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Rhizomelia, Short neck, Hypoplasia of the odontoid process, Abnormality of the vertebral endplate... |
ORPHA:239 |
Multiple Synostoses Syndrome 1 |
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Hypoplastic spinal processes, Hypoplasia of the ulna, Short humerus, Proximal/middle symphalangis... |
OMIM:186500 |
Osteoporosis-Pseudoglioma Syndrome |
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Osteopenia, Recurrent fractures, Kyphoscoliosis, Kyphosis, Osteoporosis, Increased susceptibility... |
OMIM:259770 |
Mucopolysaccharidosis, Type Vii |
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Anterior beaking of lower thoracic vertebrae, Short neck, Joint stiffness, Hypoplasia of the odon... |
OMIM:253220 |
Hurler Syndrome |
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Hypoplasia of the femoral head, Short neck, Joint stiffness, Hypoplasia of the odontoid process, ... |
OMIM:607014 |
Fanconi Anemia, Complementation Group C |
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Absent thumb, Absent radius, Cryptorchidism, Short thumb, Flexion contracture, Prolonged G2 phase... |
OMIM:227645 |
Mayer-Rokitansky-Küster-Hauser Syndrome |
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Vertebral fusion, Abnormal sacrum morphology, Abnormal form of the vertebral bodies, Vertebral se... |
ORPHA:3109 |
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
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Sacral dimple, Lumbar hyperlordosis, Short metacarpal, Craniosynostosis, Limited elbow movement, ... |
ORPHA:508533 |
Spondylocarpotarsal Synostosis Syndrome |
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Vertebral fusion, Short metacarpal, Block vertebrae, Tarsal synostosis, Short neck, Hyperlordosis... |
OMIM:272460 |
Codas Syndrome |
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Short humerus, Short metacarpal, Cryptorchidism, Generalized joint laxity, Hypoplasia of the odon... |
OMIM:600373 |
Currarino Syndrome |
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Sacrococcygeal teratoma, Aplasia/Hypoplasia of the sacrum |
ORPHA:1552 |
Marshall-Smith Syndrome |
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Microretrognathia, Thoracic scoliosis, Decreased hip abduction, Large sternal ossification center... |
OMIM:602535 |
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type |
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Short metacarpal, Micromelia, Short neck, Micrognathia, Wide anterior fontanel, Hypoplasia of the... |
OMIM:271665 |
Mucopolysaccharidosis, Type Vi |
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Lumbar hyperlordosis, Ovoid vertebral bodies, Kyphoscoliosis, Joint stiffness, Anterior wedging o... |
OMIM:253200 |
Craniofacial Microsomia 1 |
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Block vertebrae, Micrognathia, Hemivertebrae, Scoliosis, Vertebral hypoplasia |
OMIM:164210 |
Phocomelia, Schinzel Type |
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Micromelia, Short neck, Micrognathia, Cryptorchidism, Aplasia of the ulna, Humeroradial synostosi... |
ORPHA:2879 |
Spondyloepimetaphyseal Dysplasia, X-Linked |
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Joint laxity, Short metacarpal, Lumbar hyperlordosis, Hypoplasia of the odontoid process, Kyphosi... |
OMIM:300106 |
Fanconi Anemia, Complementation Group E |
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Absent thumb, Absent radius, Cryptorchidism, Short thumb, Prolonged G2 phase of cell cycle |
OMIM:600901 |
Fanconi Anemia, Complementation Group A |
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Absent thumb, Absent radius, Cryptorchidism, Short thumb, Prolonged G2 phase of cell cycle |
OMIM:227650 |
Fanconi Anemia, Complementation Group D2 |
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Absent thumb, Absent radius, Cryptorchidism, Short thumb, Prolonged G2 phase of cell cycle, Aplas... |
OMIM:227646 |
Mosaic Variegated Aneuploidy Syndrome |
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Vaginal neoplasm, Rhabdomyosarcoma, Myelodysplasia, Acute lymphoblastic leukemia, Neoplasm, Nephr... |
ORPHA:1052 |
Mosaic Variegated Aneuploidy Syndrome 2 |
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Rhizomelia, Craniosynostosis, Micrognathia |
OMIM:614114 |