Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome |
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Sacral dimple, Tarsal synostosis, Joint stiffness, Abnormal form of the vertebral bodies, Posteri... |
ORPHA:2064 |
Multiple Synostoses Syndrome 2 |
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Vertebral fusion, Tarsal synostosis, Humeroradial synostosis, Finger symphalangism, Proximal symp... |
OMIM:610017 |
Microcephaly With Cervical Spine Fusion Anomalies |
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Vertebral fusion, Spinal instability |
OMIM:251250 |
Pseudoachondroplasia |
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Limited hip extension, Distal joint laxity, Delayed epiphyseal ossification, Osteoarthritis, Gene... |
ORPHA:750 |
Spondyloepiphyseal Dysplasia Tarda, Kohn Type |
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Abnormality of the knee, Restricted large joint movement, Platyspondyly, Abnormality of the ankle... |
ORPHA:163665 |
Brachydactyly, Type B1 |
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Type B brachydactyly, Vertebral fusion, Syndactyly, Hypoplastic sacrum, Thoracolumbar scoliosis, ... |
OMIM:113000 |
Vertebral Fusion, Posterior Lumbosacral, With Blepharoptosis |
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Posterior fusion of lumbosacral vertebrae |
OMIM:192800 |
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B |
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Fused thoracic vertebrae, Tarsal synostosis, Short neck, Flexion contracture, Absent phalangeal c... |
OMIM:618469 |
Metaphyseal Chondrodysplasia, Schmid Type |
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Broad proximal phalanges of the hand, Short tubular bones of the hand, Bowing of the legs, Proxim... |
ORPHA:174 |
Spondylocostal Dysostosis 1, Autosomal Recessive |
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Back pain, Vertebral fusion, Block vertebrae, Abnormal odontoid process morphology, Kyphoscoliosi... |
OMIM:277300 |
Ring Chromosome 21 Syndrome |
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Fused thoracic vertebrae, Syndactyly, Small hand, Azoospermia, Gait disturbance, Infertility, Sco... |
ORPHA:1445 |
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome |
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Abnormal sacrum morphology, Fused cervical vertebrae, Short middle phalanx of finger, Scoliosis, ... |
ORPHA:1436 |
Otopalatodigital Syndrome Type 1 |
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Increased bone mineral density, Bowing of the long bones, Sandal gap, Proximal placement of thumb... |
ORPHA:90650 |
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome |
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Brachydactyly, Bifid distal phalanx of the thumb, Triangular shaped distal phalanx of the thumb, ... |
ORPHA:370010 |
Isolated Klippel-Feil Syndrome |
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Short neck, Abnormal sacrum morphology, Abnormal shoulder morphology, Abnormality of the vertebra... |
ORPHA:2345 |
Multiple Epiphyseal Dysplasia Type 5 |
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Back pain, Abnormal upper limb epiphysis morphology, Multiple small vertebral fractures, Delayed ... |
ORPHA:93311 |
Chromosome 8Q22.1 Duplication Syndrome |
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Hallux valgus, Enlarged interphalangeal joints, Short metacarpal, Genu recurvatum, Interphalangea... |
OMIM:151200 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3 |
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Vertebral fusion, Sacral dimple, Short long bone, Vertebral segmentation defect, Talipes equinovarus |
OMIM:618845 |
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type |
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Short neck, Clinodactyly, Coxa vara, Reduced bone mineral density, Tibial bowing, Abnormal bone o... |
ORPHA:93315 |
Acropectorovertebral Dysplasia |
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Finger syndactyly, Toe syndactyly, Bifid distal phalanx of the thumb, Capitate-hamate fusion, Sho... |
OMIM:102510 |
Klippel-Feil Syndrome 3, Autosomal Dominant |
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Thoracic scoliosis, Cervical C3/C4 vertebral fusion, Cervical C5/C6 vertebrae fusion |
OMIM:613702 |
Keratoconus Posticus Circumscriptus |
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Limited elbow extension and supination, Short neck, Clinodactyly of the 5th finger, Abnormal vert... |
OMIM:244600 |
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly |
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Congenital hip dislocation, Abnormal finger flexion crease, Aplasia/Hypoplasia of the 5th finger,... |
OMIM:228930 |
Mental Retardation, Skeletal Dysplasia, And Abducens Palsy |
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Prominent metopic ridge, Fused cervical vertebrae, Short middle phalanx of finger, Scoliosis, Tho... |
OMIM:309620 |
Diaphanospondylodysostosis |
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Narrow pelvis bone, Abnormal vertebral segmentation and fusion, Absent or minimally ossified vert... |
ORPHA:66637 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5 |
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Vertebral fusion, Elbow contracture, Facial palsy, Hyperlordosis, Kyphosis, Achilles tendon contr... |
OMIM:606612 |
Léri-Weill Dyschondrosteosis |
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Micromelia, Abnormal tibia morphology, Abnormal carpal morphology, Abnormal femur morphology, Tib... |
ORPHA:240 |
Spondylocostal Dysostosis 5 |
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Vertebral fusion, Low back pain, Short neck, Hemivertebrae, Scoliosis, Butterfly vertebrae |
OMIM:122600 |
Spondyloepimetaphyseal Dysplasia, Missouri Type |
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Waddling gait, Radial bowing, Rhizomelia, Irregular sclerotic endplates, Delayed skeletal maturat... |
OMIM:602111 |
Spondylometaphyseal Dysplasia, Kozlowski Type |
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Short tubular bones of the hand, Increased intervertebral space, Delayed epiphyseal ossification,... |
ORPHA:93314 |
Developmental And Speech Delay Due To Sox5 Deficiency |
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Vertebral fusion, Thoracic kyphoscoliosis, Lumbar hyperlordosis, Optic atrophy, 2-3 toe syndactyl... |
ORPHA:313892 |
Kniest Dysplasia |
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Arthropathy, Enlarged epiphyses, Enlarged joints, Abnormality of the epiphysis of the femoral hea... |
ORPHA:485 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5 |
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Waddling gait, Vertebral fusion, Hyperlordosis, Kyphosis, Achilles tendon contracture, Tip-toe ga... |
OMIM:607155 |
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A |
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Vertebral fusion, Hip contracture, Elbow contracture, Multiple pterygia, Short neck, Craniosynost... |
OMIM:178110 |
Wildervanck Syndrome |
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Fused cervical vertebrae, Pseudopapilledema |
OMIM:314600 |
Tibial Aplasia-Ectrodactyly Syndrome |
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Finger syndactyly, Short femur, Preaxial hand polydactyly, Postaxial hand polydactyly, Limitation... |
ORPHA:3329 |
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia |
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Aplasia/Hypoplasia of the thumb, Short humerus, Elbow dislocation, Absent radius, Ulnar bowing, S... |
OMIM:171480 |
Gorlin Syndrome |
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Vertebral fusion, Hypogonadotropic hypogonadism, Arachnodactyly, Cryptorchidism, Hemivertebrae, V... |
ORPHA:377 |
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome |
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Vertebral fusion, Elbow dislocation, Kyphosis, Postaxial hand polydactyly, Hemivertebrae, Abnorma... |
ORPHA:2916 |
Fibrodysplasia Ossificans Progressiva |
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Hallux valgus, Small cervical vertebral bodies, Progressive cervical vertebral spine fusion, Ecto... |
OMIM:135100 |
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension |
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Short femur, Sandal gap, Tarsal synostosis, Wide capital femoral epiphyses, Flat capital femoral ... |
OMIM:147891 |
Kbg Syndrome |
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Vertebral fusion, Persistent open anterior fontanelle, Short neck, Cryptorchidism, Delayed skelet... |
ORPHA:2332 |
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods |
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Fusion of midcervical facet joints, Widening of cervical spinal canal, Cervical vertebral bodies ... |
OMIM:606842 |
Multiple Pterygium Syndrome, Lethal Type |
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Joint dislocation, Vertebral fusion, Abnormal cervical curvature, Multiple pterygia, Akinesia, Fl... |
OMIM:253290 |
Verheij Syndrome |
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Joint laxity, Vertebral fusion, Optic nerve hypoplasia, Short neck, Hemivertebrae, Hip dislocatio... |
OMIM:615583 |
Aarskog-Scott Syndrome |
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Finger syndactyly, Genu recurvatum, Camptodactyly of finger, Short neck, Cryptorchidism, Small ha... |
ORPHA:915 |
Wildervanck Syndrome |
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Fused cervical vertebrae, Pseudopapilledema, Facial palsy, Short neck |
ORPHA:3456 |
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome |
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Aplasia/Hypoplasia of the thumb, Patellar aplasia, Abnormal fibula morphology, Aplasia/Hypoplasia... |
ORPHA:988 |
Thrombocytopenia-Absent Radius Syndrome |
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Finger syndactyly, Tibial torsion, Aplasia/Hypoplasia of the patella, Absent radius, Aplasia/hypo... |
ORPHA:3320 |
Familial Congenital Mirror Movements |
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Fused cervical vertebrae, Hypogonadotropic hypogonadism |
ORPHA:238722 |
Klippel-Feil Syndrome 2, Autosomal Recessive |
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Cervical C2/C3 vertebral fusion, Fused cervical vertebrae, Scoliosis, Short neck |
OMIM:214300 |
Nail-Patella Syndrome |
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Back pain, Abnormal tibia morphology, Flexion contracture, Abnormal femur morphology, Patellar hy... |
ORPHA:2614 |
Multiple Pterygium Syndrome, X-Linked |
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Joint dislocation, Vertebral fusion, Abnormal cervical curvature, Multiple pterygia, Flexion cont... |
OMIM:312150 |
Spondylocarpotarsal Synostosis Syndrome |
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Short neck, Coxa vara, Vertebral segmentation defect, Clinodactyly of the 5th finger, Vertebral f... |
OMIM:272460 |
Sillence Syndrome |
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Back pain, Large iliac wing, Abnormal vertebral morphology, Large tarsal bones, Flat acetabular r... |
ORPHA:3168 |
Laurin-Sandrow Syndrome |
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Syndactyly, Absent radius, Patellar aplasia, Short foot, Hand polydactyly, Triphalangeal thumb, A... |
OMIM:135750 |
Lamb-Shaffer Syndrome |
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Ataxia, Optic atrophy, Fused cervical vertebrae, Hip dysplasia, Thoracic kyphosis, Scoliosis |
ORPHA:530983 |
Atelosteogenesis, Type I |
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Short neck, Short metatarsal, Tibial bowing, Knee dislocation, Vertebral hypoplasia, Short metaca... |
OMIM:108720 |
Stapes Ankylosis With Broad Thumbs And Toes |
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Toe syndactyly, Broad hallux, Proximal/middle symphalangism of 5th finger, Fused cervical vertebr... |
OMIM:184460 |
Multiple Pterygium Syndrome, Escobar Variant |
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Multiple joint contractures, Short neck, Flexion contracture, Knee flexion contracture, Intercrur... |
OMIM:265000 |
Larsen Syndrome |
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Cervical kyphosis, Short metatarsal, Knee dislocation, Spina bifida occulta, Hypoplastic cervical... |
OMIM:150250 |
Spondyloepimetaphyseal Dysplasia, Shohat Type |
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Short neck, Bowing of the legs, Delayed epiphyseal ossification, Metaphyseal widening, Abnormal v... |
ORPHA:93352 |
Frontometaphyseal Dysplasia 1 |
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Carpal synostosis, Limited elbow movement, Knee flexion contracture, Increased density of long bo... |
OMIM:305620 |
Ehlers-Danlos Syndrome, Classic-Like, 2 |
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Osteopenia, Hallux valgus, Thoracic scoliosis, Short neck, Cryptorchidism, Osteoarthritis, Genera... |
OMIM:618000 |
Alkaptonuria |
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Arthropathy, Vertebral fusion, Low back pain, Kyphosis, Limited shoulder movement, Arthritis, Lim... |
OMIM:203500 |
Spondylocostal Dysostosis 4, Autosomal Recessive |
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Vertebral fusion, Abnormal odontoid process morphology, Block vertebrae, Short neck, Hemivertebra... |
OMIM:613686 |
Caudal Regression Syndrome |
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Joint stiffness, Cryptorchidism, Aplasia/Hypoplasia of the sacrum, Abnormal iliac wing morphology... |
ORPHA:3027 |
Robinow Syndrome, Autosomal Recessive 1 |
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Short neck, Hemivertebrae, Short palm, Thoracic hemivertebrae, Duplication of the distal phalanx ... |
OMIM:268310 |
Acro-Renal-Ocular Syndrome |
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Vertebral fusion, Hypoplasia of the ulna, Finger syndactyly, Aganglionic megacolon, Broad hallux ... |
ORPHA:959 |
Microcephaly, Short Stature, And Limb Abnormalities |
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Short metacarpal, Brachydactyly, Delayed skeletal maturation, Patellar aplasia, Hypoplasia of the... |
OMIM:617604 |
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism |
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Thoracolumbar scoliosis, Short neck, Flexion contracture, Cervical C2/C3 vertebral fusion, Acetab... |
OMIM:616549 |
Microcephaly-Cervical Spine Fusion Anomalies Syndrome |
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Hyperlordosis, Short neck, Kyphosis, Fused cervical vertebrae, Abnormal hip bone morphology |
ORPHA:2522 |
Arnold-Chiari Malformation Type I |
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Stiff neck, Cranial nerve compression, Abnormality of the vestibulocochlear nerve, Abnormality of... |
ORPHA:268882 |
Split-Hand/Foot Malformation With Long Bone Deficiency 1 |
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Short hallux, Aplasia of the 3rd finger, Split hand, Patellar aplasia, Hand monodactyly, Split fo... |
OMIM:119100 |
Klippel-Feil Syndrome 1, Autosomal Dominant |
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Cervical C2/C3 vertebral fusion, Abnormal vertebral segmentation and fusion, Scoliosis, Short neck |
OMIM:118100 |
Mayer-Rokitansky-Küster-Hauser Syndrome |
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Vertebral fusion, Abnormal sacrum morphology, Abnormal form of the vertebral bodies, Vertebral se... |
ORPHA:3109 |
Mosaic Trisomy 20 |
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Vertebral fusion, Down-sloping shoulders, Kyphosis, Cryptorchidism, Spinal canal stenosis, Fused ... |
ORPHA:1724 |
Frontometaphyseal Dysplasia |
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Limited elbow movement, Metaphyseal widening, Short metatarsal, Spina bifida occulta, Short phala... |
ORPHA:1826 |
Sifrim-Hitz-Weiss Syndrome |
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Hypogonadotropic hypogonadism, Tapered finger, Cryptorchidism, Flat acetabular roof, Fused cervic... |
OMIM:617159 |
Otopalatodigital Syndrome Type 2 |
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Increased bone mineral density, Bowing of the long bones, Tarsal synostosis, Camptodactyly of fin... |
ORPHA:90652 |
Koolen-De Vries Syndrome |
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Vertebral fusion, Arachnodactyly, Kyphosis, Cryptorchidism, Hip dislocation, Joint hyperflexibili... |
ORPHA:96169 |
Kbg Syndrome |
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Vertebral fusion, Syndactyly, Short neck, Cryptorchidism, Delayed skeletal maturation, Vertebral ... |
OMIM:148050 |
Patella Aplasia-Hypoplasia |
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Patellar aplasia, Patellar hypoplasia |
OMIM:168860 |
Lateral Meningocele Syndrome |
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Vertebral fusion, Short neck, Kyphosis, Cryptorchidism, Sclerosis of skull base, Scoliosis, Wormi... |
OMIM:130720 |
Koolen-De Vries Syndrome |
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Vertebral fusion, Prominent metopic ridge, Sacral dimple, Kyphosis, Cryptorchidism, Hip dislocati... |
OMIM:610443 |
Duane-Radial Ray Syndrome |
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Syndactyly, Hypoplasia of the ulna, Radial deviation of the hand, Aganglionic megacolon, Facial p... |
OMIM:607323 |
Myhre Syndrome |
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Vertebral fusion, Overlapping toe, Ataxia, Short neck, Joint stiffness, Cryptorchidism, Hypoplast... |
OMIM:139210 |
Fryns-Smeets-Thiry Syndrome |
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Arachnodactyly, Patellar aplasia, Hip dislocation, Joint hyperflexibility, Scoliosis |
ORPHA:2058 |
Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis |
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Cervical C2/C3 vertebral fusion, Talipes equinovarus, Joint hypermobility, Camptodactyly |
OMIM:617333 |
Nail-Patella Syndrome |
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Back pain, Lumbar hyperlordosis, Glenoid fossa hypoplasia, Patellar aplasia, Antecubital pterygiu... |
OMIM:161200 |
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1 |
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Hyperextensibility of the finger joints, Vertebral fusion, Sacral dimple, Overlapping toe, Cranio... |
OMIM:213980 |
Thrombocytopenia-Absent Radius Syndrome |
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Femoral bowing, Abnormal shoulder morphology, Phocomelia, Clinodactyly of the 5th finger, Short p... |
OMIM:274000 |
Basal Cell Nevus Syndrome 1 |
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Vertebral fusion, Down-sloping shoulders, Kyphoscoliosis, Irregular ossification of hand bones, H... |
OMIM:109400 |
Fanconi Anemia, Complementation Group I |
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Optic nerve hypoplasia, Short neck, Absent thumb, Short thumb, Hypoplasia of the radius, Fused ce... |
OMIM:609053 |
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
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Vertebral fusion, Block vertebrae, Short neck, Hemivertebrae, Scoliosis, Supernumerary vertebrae |
OMIM:271520 |
Meier-Gorlin Syndrome 1 |
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Genu recurvatum, Flexion contracture, Hemivertebrae, Flat glenoid fossa, Cutaneous finger syndact... |
OMIM:224690 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
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Thoracic scoliosis, Short neck, Generalized joint laxity, Abnormal optic disc morphology, Thoraci... |
ORPHA:508498 |
Faciodigitogenital Syndrome, Autosomal Recessive |
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Vertebral fusion, Syndactyly, Down-sloping shoulders, Metatarsus adductus, Cryptorchidism, Hypere... |
OMIM:227330 |
Mosaic Trisomy 8 |
|
Camptodactyly of finger, Short neck, Cryptorchidism, Patellar aplasia, Limitation of joint mobili... |
ORPHA:96061 |
Microphthalmia, Syndromic 3 |
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Optic nerve aplasia, Vertebral fusion, Hypogonadotropic hypogonadism, Optic nerve hypoplasia, Cry... |
OMIM:206900 |
Roberts Syndrome |
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Aplasia/Hypoplasia of the thumb, Proximal placement of thumb, Short neck, Knee flexion contractur... |
ORPHA:3103 |
Duane Retraction Syndrome |
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Aplasia/Hypoplasia of the thumb, Short neck, Absent radius, Preaxial hand polydactyly, Hypoplasia... |
ORPHA:233 |
Apert Syndrome |
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Limited elbow movement, Delayed epiphyseal ossification, Cutaneous finger syndactyly, Broad dista... |
OMIM:101200 |
Meier-Gorlin Syndrome 5 |
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Prominent metopic ridge, Elbow dislocation, Cryptorchidism, Delayed skeletal maturation, Patellar... |
OMIM:613805 |
Intellectual Developmental Disorder, Autosomal Dominant 52 |
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Lumbar hyperlordosis, Bilateral cryptorchidism, Cryptorchidism, Lumbar scoliosis, Cervical C2/C3 ... |
OMIM:617796 |
Shashi-Pena Syndrome |
|
Short metacarpal, Accelerated skeletal maturation, Kyphosis, Osteoporosis, Scoliosis, Cervical C2... |
OMIM:617190 |
Genitopatellar Syndrome |
|
Hip contracture, Hypoplastic ilia, Cryptorchidism, Patellar aplasia, Knee flexion contracture, Ra... |
ORPHA:85201 |
Simpson-Golabi-Behmel Syndrome |
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Vertebral fusion, Finger syndactyly, Congenital hip dislocation, Toe syndactyly, Camptodactyly of... |
ORPHA:373 |
9Q33.3Q34.11 Microdeletion Syndrome |
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Prominent metopic ridge, Short neck, Cryptorchidism, Inability to walk, Patellar aplasia, Patella... |
ORPHA:495818 |
Meier-Gorlin Syndrome 4 |
|
Genu recurvatum, Cryptorchidism, Delayed skeletal maturation, Patellar aplasia, Slender long bone |
OMIM:613804 |
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis |
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Osteopenia, Osteomyelitis, Osteolysis, Fused cervical vertebrae, Joint swelling |
OMIM:612852 |
Frontometaphyseal Dysplasia 2 |
|
Hip contracture, Short metacarpal, Congenital hip dislocation, Ulnar deviation of the hand, Elbow... |
OMIM:617137 |
Apert Syndrome |
|
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Micromelia, Optic atrophy, Ce... |
ORPHA:87 |
Wolf-Hirschhorn Syndrome |
|
Vertebral fusion, Sacral dimple, Pseudoepiphyses of the metacarpals, Short hallux, Metatarsus add... |
OMIM:194190 |
Aicardi Syndrome |
|
Block vertebrae, Optic disc coloboma, Optic atrophy, Small hand, Hip dysplasia, Scoliosis, Butter... |
ORPHA:50 |
Rothmund-Thomson Syndrome Type 2 |
|
Osteopenia, Joint dislocation, Short metacarpal, Aplasia/hypoplasia involving bones of the upper ... |
ORPHA:221016 |
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects |
|
Fused cervical vertebrae, Spina bifida occulta, Butterfly vertebrae |
OMIM:619227 |
Robinow Syndrome |
|
Fused thoracic vertebrae, Syndactyly, Brachydactyly, Kyphoscoliosis, Bifid distal phalanx of the ... |
ORPHA:97360 |
Aicardi Syndrome |
|
Block vertebrae, Proximal placement of thumb, Optic disc coloboma, Optic atrophy, Hemivertebrae, ... |
OMIM:304050 |
Rothmund-Thomson Syndrome Type 1 |
|
Osteopenia, Short metacarpal, Premature ovarian insufficiency, Metaphyseal sclerosis, Cryptorchid... |
ORPHA:221008 |
Baller-Gerold Syndrome |
|
Limited elbow movement, Patellar hypoplasia, Spina bifida occulta, Abnormal vertebral morphology,... |
OMIM:218600 |
Meier-Gorlin Syndrome 2 |
|
Delayed skeletal maturation, Patellar aplasia, Slender long bone, Camptodactyly, Tracheomalacia, ... |
OMIM:613800 |
Chromosome 16P13.3 Duplication Syndrome |
|
Sacral dimple, Sandal gap, Rocker bottom foot, Proximal placement of thumb, Short neck, Tapered f... |
OMIM:613458 |
Cardiospondylocarpofacial Syndrome |
|
Joint laxity, Tarsal synostosis, Delayed skeletal maturation, Cone-shaped epiphysis, Fused cervic... |
OMIM:157800 |
Chops Syndrome |
|
Cryptorchidism, Optic atrophy, Tracheomalacia, Cervical C2/C3 vertebral fusion, Brachydactyly |
OMIM:616368 |
Meier-Gorlin Syndrome 3 |
|
Absent sternal ossification, Aplasia/Hypoplasia of the patella, Cryptorchidism, Delayed skeletal ... |
OMIM:613803 |
Penoscrotal Transposition |
|
Clinodactyly of the 5th finger, Patellar aplasia |
ORPHA:2842 |
Recombinant 8 Syndrome |
|
Camptodactyly of finger, Cryptorchidism, Patellar aplasia, Scoliosis, Clinodactyly of the 5th finger |
ORPHA:96167 |
Thakker-Donnai Syndrome |
|
Cervical C2/C3 vertebral fusion, Hemivertebrae, Short neck |
ORPHA:1780 |
Ear-Patella-Short Stature Syndrome |
|
Camptodactyly of finger, Craniosynostosis, Aplastic clavicle, Elbow dislocation, Cryptorchidism, ... |
ORPHA:2554 |
Meier-Gorlin Syndrome 6 |
|
Sandal gap, Cryptorchidism, Delayed skeletal maturation, Patellar aplasia, Hip dysplasia, Short m... |
OMIM:616835 |
Heterotaxy, Visceral, 1, X-Linked |
|
Absence of the sacrum, Congenital hip dislocation, Block vertebrae, Short long bone, Bilateral ta... |
OMIM:306955 |
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Wormian bones, Small hand, Fibular hypoplasia, Hypoplasia of proximal radius, Tracheomalacia, Cer... |
ORPHA:444077 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Arachnodactyly, Overlapping toe, Cryptorchidism, Contracture of the distal interphalangeal joint ... |
ORPHA:83617 |
Genitopatellar Syndrome |
|
Hip contracture, Congenital hip dislocation, Cryptorchidism, Patellar aplasia, Knee flexion contr... |
OMIM:606170 |
Elsahy-Waters Syndrome |
|
Bilateral cryptorchidism, Shortening of all phalanges of fingers, Cutaneous finger syndactyly, In... |
OMIM:211380 |
Osteogenesis Imperfecta |
|
Ataxia, Cervical kyphosis, Kyphosis, Vertebral compression fracture, Abnormal form of the vertebr... |
ORPHA:666 |
Generalized Arterial Calcification Of Infancy |
|
Abnormality of the knee, Osteomalacia, Stippled calcification of the shoulder, Abnormal calcifica... |
ORPHA:51608 |
Craniofacial Microsomia 1 |
|
Block vertebrae, Partial duplication of thumb phalanx, Hemivertebrae, Genu valgum, Scoliosis, Ver... |
OMIM:164210 |
Vertical Talus, Congenital |
|
Arthritis, Calcaneovalgus deformity, Rocker bottom foot, Equinus calcaneus |
OMIM:192950 |