Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome |
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Abnormal form of the vertebral bodies, Joint stiffness, Posterior fusion of lumbosacral vertebrae... |
ORPHA:2064 |
Multiple Synostoses Syndrome 2 |
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Carpal synostosis, Humeroradial synostosis, Talipes equinovarus, Finger symphalangism, Brachydact... |
OMIM:610017 |
Microcephaly With Cervical Spine Fusion Anomalies |
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Vertebral fusion, Spinal instability |
OMIM:251250 |
Spondyloepiphyseal Dysplasia Tarda, Kohn Type |
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Platyspondyly, Abnormal vertebral morphology, Abnormal ilium morphology, Abnormality of the ankle... |
ORPHA:163665 |
Pseudoachondroplasia |
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Delayed epiphyseal ossification, Hypoplasia of the odontoid process, Genu valgum, Wind-swept defo... |
ORPHA:750 |
Brachydactyly, Type B1 |
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Joint contracture of the hand, Broad thumb, Hypoplastic sacrum, Delayed cranial suture closure, A... |
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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Talipes equinovarus, Short neck, Absent phalangeal crease, Fused thoracic vertebrae, Antecubital ... |
OMIM:618469 |
Metaphyseal Chondrodysplasia, Schmid Type |
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Abnormal vertebral morphology, Radial metaphyseal irregularity, Genu varum, Irregular vertebral e... |
ORPHA:174 |
Ring Chromosome 21 Syndrome |
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Small hand, Clinodactyly, Thoracic hemivertebrae, Azoospermia, Amenorrhea, Gait disturbance, Fuse... |
ORPHA:1445 |
Spondylocostal Dysostosis 1, Autosomal Recessive |
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Block vertebrae, Abnormal odontoid process morphology, Vertebral segmentation defect, Kyphoscolio... |
OMIM:277300 |
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome |
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Thoracic hemivertebrae, Brachydactyly, Abnormal sacrum morphology, Scoliosis, Short middle phalan... |
ORPHA:1436 |
Otopalatodigital Syndrome Type 1 |
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Short distal phalanx of finger, Limitation of joint mobility, Synostosis of carpal bones, Elbow d... |
ORPHA:90650 |
Progressive Pseudorheumatoid Arthropathy Of Childhood |
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Abnormal ilium morphology, Joint contracture of the hand, Limitation of joint mobility, Genu valg... |
ORPHA:1159 |
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome |
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Short distal phalanx of finger, Short distal phalanx of the thumb, Short 3rd metacarpal, Short to... |
ORPHA:370010 |
Isolated Klippel-Feil Syndrome |
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Abnormality of the vertebral column, Abnormal shoulder morphology, Abnormal cranial nerve morphol... |
ORPHA:2345 |
Chromosome 8Q22.1 Duplication Syndrome |
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Genu recurvatum, Short stepped shuffling gait, Broad thumb, Limitation of joint mobility, Interph... |
OMIM:151200 |
Multiple Epiphyseal Dysplasia Type 5 |
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Difficulty walking, Premature osteoarthritis, Limited hip movement, Genu valgum, Intervertebral d... |
ORPHA:93311 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3 |
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Vertebral segmentation defect, Talipes equinovarus, Short long bone, Vertebral fusion, Sacral dimple |
OMIM:618845 |
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type |
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Abnormal vertebral morphology, Limitation of joint mobility, Clinodactyly, Hypoplastic iliac wing... |
ORPHA:93315 |
Keratoconus Posticus Circumscriptus |
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Limited elbow extension and supination, Short neck, Brachydactyly, Clinodactyly of the 5th finger... |
OMIM:244600 |
Acropectorovertebral Dysplasia |
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Abnormal vertebral morphology, Toe syndactyly, Synostosis of carpal bones, Spina bifida occulta a... |
OMIM:102510 |
Klippel-Feil Syndrome 3, Autosomal Dominant |
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Cervical C5/C6 vertebrae fusion, Cervical C3/C4 vertebral fusion, Thoracic scoliosis |
OMIM:613702 |
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly |
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Aplasia/Hypoplasia of fingers, Toe syndactyly, Radial bowing, Finger syndactyly, Clinodactyly, Hy... |
OMIM:228930 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5 |
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Tip-toe gait, Elbow contracture, Difficulty walking, Hyperlordosis, Achilles tendon contracture, ... |
OMIM:606612 |
Diaphanospondylodysostosis |
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Absent or minimally ossified vertebral bodies, Short neck, Narrow pelvis bone, Abnormal vertebral... |
ORPHA:66637 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5 |
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Tip-toe gait, Difficulty walking, Hyperlordosis, Achilles tendon contracture, Vertebral fusion, S... |
OMIM:607155 |
Christian Syndrome |
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Thoracic hemivertebrae, Prominent metopic ridge, Scoliosis, Short middle phalanx of finger, Fused... |
OMIM:309620 |
Spondylocostal Dysostosis 5 |
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Butterfly vertebrae, Low back pain, Short neck, Hemivertebrae, Vertebral fusion, Scoliosis |
OMIM:122600 |
Léri-Weill Dyschondrosteosis |
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Elbow dislocation, Radial bowing, Short tibia, Abnormal tibia morphology, Genu valgum, Patellar a... |
ORPHA:240 |
Developmental And Speech Delay Due To Sox5 Deficiency |
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Optic atrophy, Lumbar hyperlordosis, Butterfly vertebrae, 2-3 toe syndactyly, Vertebral fusion, T... |
ORPHA:313892 |
Spondyloepimetaphyseal Dysplasia, Missouri Type |
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Pear-shaped vertebrae, Platyspondyly, Rhizomelia, Metaphyseal cupping, Radial bowing, Delayed ske... |
OMIM:602111 |
Kniest Dysplasia |
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Delayed epiphyseal ossification, Enlarged metaphyses, Hypoplasia of the odontoid process, Abnorma... |
ORPHA:485 |
Spondylometaphyseal Dysplasia, Kozlowski Type |
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Delayed epiphyseal ossification, Abnormal ilium morphology, Hypoplasia of the odontoid process, R... |
ORPHA:93314 |
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A |
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Popliteal pterygium, Arthrogryposis multiplex congenita, Cervical spinal canal stenosis, Carpal s... |
OMIM:178110 |
Tibial Aplasia-Ectrodactyly Syndrome |
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Aplasia/Hypoplasia of the tibia, Popliteal pterygium, Limitation of joint mobility, Finger syndac... |
ORPHA:3329 |
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome |
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Abnormal form of the vertebral bodies, Elbow dislocation, Clinodactyly of the 5th finger, Postaxi... |
ORPHA:2916 |
Wildervanck Syndrome |
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Pseudopapilledema, Fused cervical vertebrae |
OMIM:314600 |
Fibrodysplasia Ossificans Progressiva |
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Broad femoral neck, Short 1st metacarpal, Small cervical vertebral bodies, Ectopic ossification i... |
OMIM:135100 |
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 |
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension |
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Sandal gap, Patellar hypoplasia, Hypoplasia of the lesser trochanter, Patellar aplasia, Talocalca... |
OMIM:147891 |
Multiple Pterygium Syndrome, Lethal Type |
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Joint dislocation, Short finger, Akinesia, Increased susceptibility to fractures, Multiple pteryg... |
OMIM:253290 |
Verheij Syndrome |
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Short 5th finger, Clinodactyly, Joint hypermobility, Short neck, Hemivertebrae, Vertebral fusion,... |
OMIM:615583 |
Familial Congenital Mirror Movements |
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Hypogonadotropic hypogonadism, Fused cervical vertebrae |
ORPHA:238722 |
Kbg Syndrome |
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Delayed skeletal maturation, Persistent open anterior fontanelle, Finger clinodactyly, Short neck... |
ORPHA:2332 |
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome |
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Aplasia/Hypoplasia of the tibia, Synostosis of carpal bones, Patellar aplasia, Aplasia/Hypoplasia... |
ORPHA:988 |
Thrombocytopenia-Absent Radius Syndrome |
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Broad thumb, Finger syndactyly, Tibial torsion, Absent radius, Fibular aplasia, Aplasia/hypoplasi... |
ORPHA:3320 |
Klippel-Feil Syndrome 2, Autosomal Recessive |
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Cervical C2/C3 vertebral fusion, Short neck, Scoliosis, Fused cervical vertebrae |
OMIM:214300 |
Spondylocarpotarsal Synostosis Syndrome |
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Epiphyseal dysplasia, Hypoplasia of the odontoid process, Carpal synostosis, C2-C3 subluxation, T... |
OMIM:272460 |
Multiple Pterygium Syndrome, X-Linked |
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Joint dislocation, Short finger, Increased susceptibility to fractures, Multiple pterygia, Abnorm... |
OMIM:312150 |
Aarskog-Scott Syndrome |
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Genu recurvatum, Small hand, Finger syndactyly, Camptodactyly of finger, Joint hypermobility, Abn... |
ORPHA:915 |
Nail-Patella Syndrome |
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Abnormal tibia morphology, Contracture of the distal interphalangeal joint of the fingers, Patell... |
ORPHA:2614 |
Wildervanck Syndrome |
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Short neck, Pseudopapilledema, Facial palsy, Fused cervical vertebrae |
ORPHA:3456 |
Sillence Syndrome |
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Abnormal vertebral morphology, Broad thumb, Intervertebral disk degeneration, Flat acetabular roo... |
ORPHA:3168 |
Laurin-Sandrow Syndrome |
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Patellar aplasia, Hand polydactyly, Triphalangeal thumb, Absent tibia, Absent radius, Fibular dup... |
OMIM:135750 |
Lamb-Shaffer Syndrome |
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Ataxia, Optic atrophy, Fused cervical vertebrae, Hip dysplasia, Scoliosis, Thoracic kyphosis |
ORPHA:530983 |
Stapes Ankylosis With Broad Thumbs And Toes |
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Short distal phalanx of finger, Toe syndactyly, Broad thumb, Broad hallux, Proximal/middle sympha... |
OMIM:184460 |
Spondyloepimetaphyseal Dysplasia, Shohat Type |
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Delayed epiphyseal ossification, Abnormal vertebral morphology, Premature osteoarthritis, Squared... |
ORPHA:93352 |
Klippel-Feil Syndrome 1, Autosomal Dominant |
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Cervical C2/C3 vertebral fusion, Short neck, Abnormal limb bone morphology, Scoliosis, Abnormal v... |
OMIM:118100 |
Spondylocostal Dysostosis 4, Autosomal Recessive |
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Block vertebrae, Abnormal odontoid process morphology, Vertebral segmentation defect, Spina bifid... |
OMIM:613686 |
Atelosteogenesis, Type I |
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Elbow dislocation, Radial bowing, Fibular aplasia, Talipes equinovarus, Short neck, Aplasia/Hypop... |
OMIM:108720 |
Frontometaphyseal Dysplasia 1 |
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Broad phalanges of the hand, Partial fusion of carpals, Carpal synostosis, Genu valgum, Limited e... |
OMIM:305620 |
Multiple Pterygium Syndrome, Escobar Variant |
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Intercrural pterygium, Dysplastic patella, Patellar aplasia, Arachnodactyly, Talipes equinovarus,... |
OMIM:265000 |
Larsen Syndrome |
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Hypoplastic cervical vertebrae, Elbow dislocation, Talipes equinovarus, Beaking of vertebral bodi... |
OMIM:150250 |
Acro-Renal-Ocular Syndrome |
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Toe syndactyly, Short distal phalanx of the thumb, Finger syndactyly, Optic disc coloboma, Aplasi... |
ORPHA:959 |
Ehlers-Danlos Syndrome, Classic-Like, 2 |
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Osteopenia, Squared iliac bones, Knee dislocation, Generalized joint hypermobility, Cervical C2/C... |
OMIM:618000 |
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism |
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Acetabular dysplasia, Cervical C2/C3 vertebral fusion, Short neck, Thoracolumbar scoliosis, Flexi... |
OMIM:616549 |
Microcephaly, Short Stature, And Limb Abnormalities |
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Delayed skeletal maturation, Patellar hypoplasia, Patellar aplasia, Radioulnar synostosis, Brachy... |
OMIM:617604 |
Microcephaly-Cervical Spine Fusion Anomalies Syndrome |
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Abnormal hip bone morphology, Short neck, Hyperlordosis, Kyphosis, Fused cervical vertebrae |
ORPHA:2522 |
Split-Hand/Foot Malformation With Long Bone Deficiency 1 |
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Patellar aplasia, Short hallux, Absent tibia, Split hand, Aplasia/Hypoplasia of the ulna, Aplasia... |
OMIM:119100 |
Arnold-Chiari Malformation Type I |
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Progressive cerebellar ataxia, Cranial nerve compression, Stiff neck, Abnormality of the vestibul... |
ORPHA:268882 |
Caudal Regression Syndrome |
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Abnormal pelvic girdle bone morphology, Aplasia/Hypoplasia of the sacrum, Joint stiffness, Hypopl... |
ORPHA:3027 |
Alkaptonuria |
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Limited hip movement, Intervertebral disk degeneration, Arthropathy, Low back pain, Limited shoul... |
OMIM:203500 |
Robinow Syndrome, Autosomal Recessive 1 |
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Bifid distal phalanx of toe, Small hand, Broad thumb, Clinodactyly, Radial bowing, Delayed crania... |
OMIM:268310 |
Mayer-Rokitansky-Küster-Hauser Syndrome |
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Abnormal form of the vertebral bodies, Endometriosis, Vertebral segmentation defect, Dyspareunia,... |
ORPHA:3109 |
Frontometaphyseal Dysplasia |
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Joint contracture of the hand, Short distal phalanx of the thumb, Broad thumb, Limited elbow move... |
ORPHA:1826 |
Otopalatodigital Syndrome Type 2 |
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Synostosis of carpal bones, Elbow dislocation, Short thumb, Camptodactyly of finger, Carpal synos... |
ORPHA:90652 |
Sifrim-Hitz-Weiss Syndrome |
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Gait imbalance, Short clavicles, Wormian bones, Hypogonadotropic hypogonadism, Tapered finger, Fl... |
OMIM:617159 |
Patella Aplasia-Hypoplasia |
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Patellar aplasia, Patellar hypoplasia |
OMIM:168860 |
Koolen-De Vries Syndrome |
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Hip dislocation, Vertebral segmentation defect, Joint hypermobility, Arachnodactyly, Vertebral fu... |
ORPHA:96169 |
Mosaic Trisomy 20 |
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Clinodactyly, Spinal canal stenosis, Vertebral segmentation defect, Down-sloping shoulders, Limit... |
ORPHA:1724 |
Gorlin Syndrome |
|
Abnormal vertebral morphology, Vertebral wedging, Arachnodactyly, Hypogonadotropic hypogonadism, ... |
ORPHA:377 |
Duane-Radial Ray Syndrome |
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Radial deviation of the hand, Absent thumb, Short thumb, Sandal gap, Preaxial polydactyly, Absent... |
OMIM:607323 |
Kbg Syndrome |
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Radial deviation of finger, Delayed skeletal maturation, Ulnar deviation of the 2nd finger, Clino... |
OMIM:148050 |
Koolen-De Vries Syndrome |
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Slender finger, Kyphosis, Prominent fingertip pads, Spondylolisthesis, Joint hypermobility, Hip d... |
OMIM:610443 |
Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis |
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Cervical C2/C3 vertebral fusion, Talipes equinovarus, Camptodactyly, Joint hypermobility |
OMIM:617333 |
Fryns-Smeets-Thiry Syndrome |
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Patellar aplasia, Joint hypermobility, Arachnodactyly, Scoliosis, Hip dislocation |
ORPHA:2058 |
Lateral Meningocele Syndrome |
|
Sclerosis of skull base, Biconcave vertebral bodies, Joint hypermobility, Wormian bones, Short ne... |
OMIM:130720 |
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1 |
|
Overlapping toe, Joint hypermobility, Talipes equinovarus, Short neck, Beaking of vertebral bodie... |
OMIM:213980 |
Basal Cell Nevus Syndrome 1 |
|
Short distal phalanx of the thumb, Vertebral wedging, Kyphoscoliosis, Polydactyly, Short 4th meta... |
OMIM:109400 |
Nail-Patella Syndrome |
|
Elongated radius, Patellar hypoplasia, Hypoplastic radial head, Lumbar hyperlordosis, Limited elb... |
OMIM:161200 |
Myhre Syndrome |
|
Platyspondyly, Cone-shaped epiphysis, Limitation of joint mobility, Clinodactyly, Short toe, Shor... |
OMIM:139210 |
Thrombocytopenia-Absent Radius Syndrome |
|
Short forearm, Broad thumb, Finger syndactyly, Carpal synostosis, Fibular aplasia, Patellar aplas... |
OMIM:274000 |
Fanconi Anemia, Complementation Group I |
|
Absent thumb, Short 1st metacarpal, Short thumb, Short neck, Fused cervical vertebrae, Hypoplasia... |
OMIM:609053 |
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
|
Block vertebrae, Supernumerary vertebrae, Short neck, Hemivertebrae, Vertebral fusion, Scoliosis |
OMIM:271520 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Broad thumb, Thoracic hemivertebrae, Overlapping toe, Abnormal optic disc morphology, Short neck,... |
ORPHA:508498 |
Meier-Gorlin Syndrome 1 |
|
Joint contracture of the hand, Small hand, Elbow dislocation, Cutaneous finger syndactyly, Genu v... |
OMIM:224690 |
Microphthalmia, Syndromic 3 |
|
Optic nerve aplasia, Butterfly vertebrae, Hypogonadotropic hypogonadism, Hemivertebrae, Vertebral... |
OMIM:206900 |
Faciodigitogenital Syndrome, Autosomal Recessive |
|
Clinodactyly of the 5th finger, Down-sloping shoulders, Hyperextensible hand joints, Metatarsus a... |
OMIM:227330 |
Roberts Syndrome |
|
Synostosis of carpal bones, Finger syndactyly, Sandal gap, Radial deviation of finger, Proximal p... |
ORPHA:3103 |
Shashi-Pena Syndrome |
|
Cervical C2/C3 vertebral fusion, Short metacarpal, Accelerated skeletal maturation, Osteoporosis,... |
OMIM:617190 |
Apert Syndrome |
|
Lambdoidal craniosynostosis, Coronal craniosynostosis, Delayed epiphyseal ossification, Broad thu... |
OMIM:101200 |
Duane Retraction Syndrome |
|
Abnormal form of the vertebral bodies, Preaxial hand polydactyly, Talipes equinovarus, Short neck... |
ORPHA:233 |
Mosaic Trisomy 8 |
|
Limitation of joint mobility, Arthrogryposis multiplex congenita, Camptodactyly of finger, Patell... |
ORPHA:96061 |
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis |
|
Osteopenia, Osteomyelitis, Joint swelling, Osteolysis, Fused cervical vertebrae |
OMIM:612852 |
Meier-Gorlin Syndrome 5 |
|
Clinodactyly, Elbow dislocation, Delayed skeletal maturation, Slender long bone, Hypoplasia of th... |
OMIM:613805 |
Apert Syndrome |
|
Optic atrophy, Toe syndactyly, Broad thumb, Finger syndactyly, Micromelia, Cervical C5/C6 vertebr... |
ORPHA:87 |
Simpson-Golabi-Behmel Syndrome |
|
Congenital hip dislocation, Toe syndactyly, Broad thumb, Finger syndactyly, Short toe, Camptodact... |
ORPHA:373 |
9Q33.3Q34.11 Microdeletion Syndrome |
|
Bilateral coxa valga, Patellar hypoplasia, Inability to walk, Patellar aplasia, Talipes equinovar... |
ORPHA:495818 |
Intellectual Developmental Disorder, Autosomal Dominant 52 |
|
Cervical C2/C3 vertebral fusion, Lumbar hyperlordosis, Lumbar scoliosis |
OMIM:617796 |
Genitopatellar Syndrome |
|
Hypoplastic ilia, Patellar aplasia, Knee flexion contracture, Hip contracture, Radioulnar synosto... |
ORPHA:85201 |
Aicardi Syndrome |
|
Optic atrophy, Block vertebrae, Small hand, Optic disc coloboma, Butterfly vertebrae, Hip dysplas... |
ORPHA:50 |
Frontometaphyseal Dysplasia 2 |
|
Congenital hip dislocation, Broad thumb, Finger clinodactyly, Elbow contracture, Flared metaphysi... |
OMIM:617137 |
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects |
|
Spina bifida occulta, Butterfly vertebrae, Fused cervical vertebrae |
OMIM:619227 |
Wolf-Hirschhorn Syndrome |
|
Hip dislocation, Pseudoepiphyses of the metacarpals, Abnormal form of the vertebral bodies, Delay... |
OMIM:194190 |
Holt-Oram Syndrome |
|
Hypoplastic scapulae, Short forearm, Elbow dislocation, Radial bowing, Ulnar deviation of thumb, ... |
OMIM:142900 |
Aicardi Syndrome |
|
Optic atrophy, Block vertebrae, Optic disc coloboma, Butterfly vertebrae, Hemivertebrae, Scoliosi... |
OMIM:304050 |
Meier-Gorlin Syndrome 4 |
|
Genu recurvatum, Slender long bone, Patellar aplasia, Delayed skeletal maturation |
OMIM:613804 |
Robinow Syndrome |
|
Short distal phalanx of finger, Kyphoscoliosis, Bifid distal phalanx of the thumb, Brachydactyly,... |
ORPHA:97360 |
Rothmund-Thomson Syndrome Type 2 |
|
Osteopenia, Joint dislocation, Patellar hypoplasia, Delayed skeletal maturation, Pathologic fract... |
ORPHA:221016 |
Baller-Gerold Syndrome |
|
Lambdoidal craniosynostosis, Abnormal vertebral morphology, Carpal synostosis, Patellar aplasia, ... |
OMIM:218600 |
Meier-Gorlin Syndrome 2 |
|
Tracheomalacia, Delayed skeletal maturation, Slender long bone, Patellar aplasia, Joint hypermobi... |
OMIM:613800 |
Rothmund-Thomson Syndrome Type 1 |
|
Osteopenia, Patellar hypoplasia, Delayed skeletal maturation, Hypogonadism, Metaphyseal sclerosis... |
ORPHA:221008 |
Penoscrotal Transposition |
|
Clinodactyly of the 5th finger, Patellar aplasia |
ORPHA:2842 |
Chromosome 16P13.3 Duplication Syndrome |
|
Short toe, Short thumb, Sandal gap, Cervical C5/C6 vertebrae fusion, Proximal placement of hallux... |
OMIM:613458 |
Chops Syndrome |
|
Cervical C2/C3 vertebral fusion, Optic atrophy, Brachydactyly, Tracheomalacia |
OMIM:616368 |
Thakker-Donnai Syndrome |
|
Cervical C2/C3 vertebral fusion, Short neck, Hemivertebrae |
ORPHA:1780 |
Cardiospondylocarpofacial Syndrome |
|
Cone-shaped epiphysis, Delayed skeletal maturation, Fusion of middle ear ossicles, Carpal synosto... |
OMIM:157800 |
Meier-Gorlin Syndrome 3 |
|
Tracheomalacia, Patellar hypoplasia, Delayed skeletal maturation, Slender long bone, Patellar apl... |
OMIM:613803 |
Recombinant 8 Syndrome |
|
Clinodactyly of the 5th finger, Scoliosis, Patellar aplasia, Camptodactyly of finger |
ORPHA:96167 |
Ear-Patella-Short Stature Syndrome |
|
Aplastic clavicle, Abnormal epiphysis morphology, Elbow dislocation, Delayed skeletal maturation,... |
ORPHA:2554 |
Heterotaxy, Visceral, 1, X-Linked |
|
Congenital hip dislocation, Block vertebrae, Absence of the sacrum, Short long bone, Bilateral ta... |
OMIM:306955 |
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Abnormal vertebral morphology, Small hand, Tracheomalacia, Hypoplasia of proximal radius, Fibular... |
ORPHA:444077 |
Meier-Gorlin Syndrome 6 |
|
Sandal gap, Delayed skeletal maturation, Patellar aplasia, Hip dysplasia, Tracheobronchomalacia, ... |
OMIM:616835 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Coronal craniosynostosis, Overlapping toe, Contracture of the distal interphalangeal joint of the... |
ORPHA:83617 |
Genitopatellar Syndrome |
|
Congenital hip dislocation, Inferior pubic ramus hypoplasia, Patellar aplasia, Knee flexion contr... |
OMIM:606170 |
Osteogenesis Imperfecta |
|
Cervical kyphosis, Abnormal form of the vertebral bodies, Enlarged vertebral pedicles, Biconcave ... |
ORPHA:666 |
Elsahy-Waters Syndrome |
|
Shortening of all phalanges of fingers, Cutaneous finger syndactyly, Cervical C2/C3 vertebral fus... |
OMIM:211380 |
Generalized Arterial Calcification Of Infancy |
|
Osteomalacia, Abnormal hip joint morphology, Hypophosphatemic rickets, Abnormal calcification of ... |
ORPHA:51608 |
Craniofacial Microsomia 1 |
|
Block vertebrae, Genu valgum, Partial duplication of thumb phalanx, Hemivertebrae, Scoliosis, Ver... |
OMIM:164210 |
Vertical Talus, Congenital |
|
Calcaneovalgus deformity, Rocker bottom foot, Equinus calcaneus, Arthritis |
OMIM:192950 |