Neurogenic Thoracic Outlet Syndrome |
|
Abnormal rib morphology |
ORPHA:100073 |
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome |
|
Finger syndactyly, Abnormal rib morphology, Pectus carinatum, Radioulnar synostosis, Scoliosis, C... |
ORPHA:3268 |
Poland Syndrome |
|
Syndactyly, Unilateral oligodactyly, Unilateral absence of pectoralis major muscle, Unilateral hy... |
OMIM:173800 |
Sprengel Deformity |
|
Rib segmentation abnormalities, Cervical segmentation defect, Shoulder muscle hypoplasia, Hemiver... |
OMIM:184400 |
Spondylocostal Dysostosis 3, Autosomal Recessive |
|
Contracture of the proximal interphalangeal joint of the 2nd finger, Kyphosis, Hypoplasia of the ... |
OMIM:609813 |
Endosteal Hyperostosis, Worth Type |
|
Sclerotic vertebral body, Facial palsy, Abnormal rib morphology, Abnormal form of the vertebral b... |
ORPHA:2790 |
Heart Defects-Limb Shortening Syndrome |
|
Mesomelic/rhizomelic limb shortening, Kyphosis, Abnormal rib morphology, Abnormal form of the ver... |
ORPHA:1354 |
Kyphomelic Dysplasia |
|
Bowing of the long bones, Anterior rib cupping, Micromelia, Missing ribs, Lateral clavicle hook, ... |
ORPHA:1801 |
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome |
|
Abnormal rib morphology |
ORPHA:2435 |
Myotonia With Skeletal Abnormalities And Mental Retardation |
|
Kyphoscoliosis, Irregular femoral epiphysis, Vertebral wedging, Genu valgum, Skeletal muscle hype... |
OMIM:255710 |
Spondylometaphyseal Dysplasia, Type A4 |
|
Brachydactyly, Ovoid vertebral bodies, Coxa valga, Metaphyseal sclerosis, Enlargement of the cost... |
OMIM:609052 |
Spondylometaphyseal Dysplasia, A4 Type |
|
Micromelia, Coxa vara, Platyspondyly, Flared, irregular rib ends, Short palm |
ORPHA:168555 |
Metatropic Dysplasia |
|
Abnormal intervertebral disk morphology, Camptodactyly of finger, Micromelia, Kyphosis, Abnormal ... |
ORPHA:2635 |
Spondylocostal Dysostosis 2, Autosomal Recessive |
|
Short neck, Vertebral clefting, Hemivertebrae, Rib fusion, Vertebral segmentation defect |
OMIM:608681 |
Isolated Klippel-Feil Syndrome |
|
Congenital muscular torticollis, Short neck, Abnormal sacrum morphology, Abnormal rib morphology,... |
ORPHA:2345 |
Mesomelic Dysplasia, Kantaputra Type |
|
Camptodactyly of finger, Tarsal synostosis, Abnormality of the humerus, Abnormal rib morphology, ... |
ORPHA:1836 |
Metatropic Dysplasia |
|
Abnormal metaphyseal vascular invasion, Flexion contracture, Long coccyx, Narrow chest, Flaring o... |
OMIM:156530 |
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly |
|
Lateral clavicle hook, Postaxial hand polydactyly, Postaxial foot polydactyly, Short ribs, Narrow... |
OMIM:617405 |
Becker Nevus Syndrome |
|
Micromelia, Pectus excavatum, Kyphosis, Abnormal tibia morphology, Rib fusion, Pectus carinatum, ... |
ORPHA:64755 |
Spondylocostal Dysostosis 5 |
|
Vertebral fusion, Low back pain, Short neck, Missing ribs, Hemivertebrae, Pectus carinatum, Poste... |
OMIM:122600 |
Autosomal Dominant Spondylocostal Dysostosis |
|
Hyperlordosis, Short neck, Missing ribs, Abnormal sacrum morphology, Short thorax, Abnormal rib m... |
ORPHA:1797 |
Infantile-Onset X-Linked Spinal Muscular Atrophy |
|
Skeletal muscle atrophy, Hip contracture, Interphalangeal joint contracture of finger, Ankle flex... |
ORPHA:1145 |
Metaphyseal Chondrodysplasia, Schmid Type |
|
Broad proximal phalanges of the hand, Bowing of the legs, Short tubular bones of the hand, Proxim... |
ORPHA:174 |
Thoracolaryngopelvic Dysplasia |
|
Metaphyseal widening, Irregular chondrocostal junctions, Bell-shaped thorax, Irregular vertebral ... |
OMIM:187760 |
Spondylocostal Dysostosis 1, Autosomal Recessive |
|
Back pain, Vertebral fusion, Block vertebrae, Abnormal odontoid process morphology, Kyphoscoliosi... |
OMIM:277300 |
Craniodiaphyseal Dysplasia |
|
Abnormal rib morphology, Diaphyseal thickening |
ORPHA:1513 |
Jeune Syndrome |
|
Abnormal clavicle morphology, Toe syndactyly, Micromelia, Postaxial hand polydactyly, Short thora... |
ORPHA:474 |
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies |
|
Superior rib anomalies, Abnormality of the cervical spine |
OMIM:307500 |
Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Metaphyseal dysplasia, Short metacarpal, Lumbar hyperlordosis, Hypoplastic sacrum, Capitate-hamat... |
OMIM:271650 |
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness |
|
Broad toe, Lumbar hyperlordosis, Enlarged metacarpal epiphyses, Cupped ribs, Enlarged epiphyses o... |
OMIM:609616 |
Osteogenesis Imperfecta, Type Ix |
|
Beaded ribs, Pectus excavatum, Kyphosis, Pectus carinatum, Platyspondyly, Scoliosis, Short lower ... |
OMIM:259440 |
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly |
|
Postaxial polydactyly, Lateral clavicle hook, Bell-shaped thorax, Thoracic dysplasia, Narrow ches... |
OMIM:615633 |
Autosomal Recessive Spondylocostal Dysostosis |
|
Rib segmentation abnormalities, Finger syndactyly, Abnormal intervertebral disk morphology, Campt... |
ORPHA:2311 |
Klippel-Feil Syndrome 1, Autosomal Dominant |
|
Congenital muscular torticollis, Short neck, Abnormal rib morphology, Scoliosis, Cervical C2/C3 v... |
OMIM:118100 |
Lethal Congenital Contracture Syndrome Type 1 |
|
Skeletal muscle atrophy, Abnormal rib morphology, Abnormal form of the vertebral bodies, Short neck |
ORPHA:1486 |
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy |
|
Short metacarpal, Rhizomelia, Ovoid vertebral bodies, Cupped ribs, Metaphyseal widening, Coxa var... |
OMIM:608940 |
Axial Spondylometaphyseal Dysplasia |
|
Aplasia/Hypoplasia of the vertebrae, Thoracic scoliosis, Proximal femoral metaphyseal irregularit... |
ORPHA:168549 |
Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Short metacarpal, Micromelia, Abnormal carpal morphology, Short metatarsal, Coxa vara, Upper limb... |
ORPHA:93351 |
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Abnormal clavicle morphology, Bowing of the long bones, Rhizomelia, Proximal placement of thumb, ... |
ORPHA:93267 |
Spondyloepimetaphyseal Dysplasia, Strudwick Type |
|
Club-shaped proximal femur, Anterior rib cupping, Hyperlordosis, Metaphyseal dappling, Hypoplasia... |
OMIM:184250 |
Mosaic Trisomy 14 |
|
Narrow chest, Abnormal rib morphology, Camptodactyly of finger, Short neck |
ORPHA:1703 |
Fibrochondrogenesis 2 |
|
Cupped ribs, Metaphyseal widening, Bell-shaped thorax, Platyspondyly, Short ribs, Metaphyseal cup... |
OMIM:614524 |
Cooper-Jabs Syndrome |
|
Camptodactyly of finger, Proximal placement of thumb, Congenital diaphragmatic hernia, Missing ri... |
ORPHA:1488 |
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2 |
|
Vertebral segmentation defect, Abnormal rib morphology, Short neck |
ORPHA:2578 |
Holt-Oram Syndrome |
|
Finger syndactyly, Abnormal clavicle morphology, Down-sloping shoulders, Absent thumb, Abnormalit... |
ORPHA:392 |
Diastrophic Dysplasia |
|
Abnormal clavicle morphology, Bowing of the long bones, Camptodactyly of finger, Proximal placeme... |
ORPHA:628 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3 |
|
Hypoplasia of the ulna, Tapered finger, Short neck, Thin ribs, Irregular vertebral endplates, Pla... |
OMIM:618395 |
Achondrogenesis Type 1B |
|
Micromelia, Short neck, Short thorax, Abnormal rib morphology, Short foot, Narrow chest, Talipes ... |
ORPHA:93298 |
Microcephaly-Cervical Spine Fusion Anomalies Syndrome |
|
Abnormal clavicle morphology, Hyperlordosis, Short neck, Kyphosis, Pectus excavatum, Abnormal rib... |
ORPHA:2522 |
Femoral-Facial Syndrome |
|
Short femur, Abnormal sacrum morphology, Abnormal rib morphology, Rib fusion, Abnormal fibula mor... |
ORPHA:1988 |
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome |
|
Skeletal muscle atrophy, Facial palsy, Hyperlordosis, Abnormal muscle fiber morphology, Abnormal ... |
ORPHA:3068 |
Fibrochondrogenesis |
|
Hypoplastic scapulae, Camptodactyly of finger, Micromelia, Short neck, Abnormal rib morphology, A... |
ORPHA:2021 |
Becker Nevus Syndrome |
|
Pectus excavatum, Cervical ribs, Hemivertebrae, Scoliosis |
OMIM:604919 |
Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Radial bowing, Rhizomelia, Irregular sclerotic endplates, Ulnar bowing, Flared metaphysis, Coxa v... |
OMIM:602111 |
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
|
Proximal placement of thumb, Congenital diaphragmatic hernia, Abnormal thumb morphology, Short th... |
ORPHA:1120 |
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type |
|
Lumbar hyperlordosis, Metaphyseal spurs, Micromelia, Bowing of the legs, Ovoid vertebral bodies, ... |
OMIM:608728 |
Severe Congenital Nemaline Myopathy |
|
Skeletal muscle atrophy, Facial palsy, Abnormal thorax morphology, Flexion contracture, Thin ribs... |
ORPHA:171430 |
Juberg-Hayward Syndrome |
|
Toe syndactyly, Short thumb, Hypoplasia of the radius, Abnormal finger morphology, Abnormal rib m... |
ORPHA:2319 |
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
|
11 pairs of ribs, Rhizomelia, Metaphyseal cupping of proximal phalanges, Thin ribs, Metaphyseal c... |
OMIM:300863 |
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy |
|
Skeletal muscle atrophy, Anterior rib cupping, Kyphoscoliosis, Short neck, Hypoplasia of the odon... |
OMIM:300232 |
Dyggve-Melchior-Clausen Disease |
|
Short neck, Metaphyseal widening, Flat glenoid fossa, Short metatarsal, Tibial bowing, Femoral bo... |
OMIM:223800 |
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome |
|
Sandal gap, Hemivertebrae, Abnormal rib morphology, Abnormal form of the vertebral bodies, Scolio... |
ORPHA:2180 |
White Forelock With Malformations |
|
Finger syndactyly, Abnormal rib morphology, Clinodactyly of the 5th finger, Sprengel anomaly, Spi... |
ORPHA:2475 |
Acro-Renal-Mandibular Syndrome |
|
Hypoplasia of the ulna, Finger syndactyly, Abnormal clavicle morphology, Hypoplastic scapulae, Co... |
ORPHA:958 |
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type |
|
Radial bowing, Rhizomelia, Disc-like vertebral bodies, Dumbbell-shaped long bone, Micromelia, Sho... |
OMIM:151210 |
Schneckenbecken Dysplasia |
|
Hypoplastic scapulae, Ovoid vertebral bodies, Dumbbell-shaped long bone, Short neck, Lateral clav... |
OMIM:269250 |
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome |
|
Abnormal rib morphology, Hemivertebrae, Abnormal form of the vertebral bodies, Short neck |
ORPHA:2234 |
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies |
|
Pectus excavatum, Hypoplastic distal segments of scapulae, Abnormal rib morphology |
OMIM:602196 |
Grant Syndrome |
|
Bowing of the long bones, Abnormal rib morphology, Narrow chest, Sprengel anomaly, Abnormality of... |
ORPHA:2097 |
Mucopolysaccharidosis, Type X |
|
Spatulate ribs, Hyperlordosis, Broad clavicles, Genu valgum, Platyspondyly, Posterior scalloping ... |
OMIM:619698 |
Autosomal Dominant Centronuclear Myopathy |
|
Proximal muscle weakness in upper limbs, Centrally nucleated skeletal muscle fibers, Abnormality ... |
ORPHA:169189 |
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome |
|
Broad hallux phalanx, Toe syndactyly, Metatarsus valgus, Aplasia/Hypoplasia of toe, Short neck, P... |
ORPHA:3082 |
Dyggve-Melchior-Clausen Disease |
|
Glenoid fossa hypoplasia, Short neck, Coxa vara, Pectus carinatum, Broad ribs, Rhizomelia, Hypopl... |
ORPHA:239 |
Imperforate Oropharynx-Costovertebral Anomalies Syndrome |
|
Arachnodactyly, Missing ribs, Abnormal rib morphology, Hemivertebrae, Abnormal form of the verteb... |
ORPHA:2759 |
Achondrogenesis Type 1A |
|
Multiple rib fractures, Micromelia, Short neck, Short thorax, Short foot, Narrow chest, Short palm |
ORPHA:93299 |
Osteogenesis Imperfecta, Type Xv |
|
Platyspondyly, Scoliosis, Thin ribs |
OMIM:615220 |
Spondylocostal Dysostosis 4, Autosomal Recessive |
|
Vertebral fusion, Abnormal odontoid process morphology, Block vertebrae, Short neck, Missing ribs... |
OMIM:613686 |
10Q22.3Q23.3 Microduplication Syndrome |
|
Abnormal clavicle morphology, Abnormal rib morphology |
ORPHA:276422 |
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome |
|
Bowing of the long bones, Radial bowing, Abnormally ossified vertebrae, Abnormal rib morphology, ... |
ORPHA:3035 |
Acrocapitofemoral Dysplasia |
|
Micromelia, Short proximal phalanx of thumb, Coxa vara, Pectus carinatum, Narrow chest, Short pal... |
OMIM:607778 |
Renpenning Syndrome |
|
Skeletal muscle atrophy, Pectus excavatum, Abnormal thumb morphology, Abnormal rib morphology, Cl... |
ORPHA:3242 |
Phaver Syndrome |
|
Broad hallux phalanx, Camptodactyly of finger, Short thumb, Abnormal rib morphology, Abnormal for... |
ORPHA:2876 |
Mucopolysaccharidosis Type 4 |
|
Bowing of the long bones, Coxa valga, Short neck, Hyperlordosis, Kyphosis, Short thorax, Abnormal... |
ORPHA:582 |
Achondrogenesis, Type Ia |
|
Abnormal femoral metaphysis morphology, Micromelia, Bowing of the legs, Short neck, Abnormal hand... |
OMIM:200600 |
Lethal Congenital Contracture Syndrome 5 |
|
Thin ribs, Congenital contracture, Flexion contracture, Centrally nucleated skeletal muscle fibers |
OMIM:615368 |
Thin Ribs-Tubular Bones-Dysmorphism Syndrome |
|
Abnormal rib morphology |
ORPHA:1506 |
Microcephalic Primordial Dwarfism, Toriello Type |
|
Abnormal rib morphology, Brachydactyly |
ORPHA:2643 |
3M Syndrome |
|
Hypoplasia of the ulna, Scapular winging, Rocker bottom foot, Micromelia, Short neck, Hyperlordos... |
ORPHA:2616 |
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B |
|
Fused thoracic vertebrae, Tarsal synostosis, Short neck, Flexion contracture, Absent phalangeal c... |
OMIM:618469 |
Mucopolysaccharidosis, Type Iva |
|
Ovoid vertebral bodies, Short neck, Coxa valga, Hyperlordosis, Metaphyseal widening, Hypoplasia o... |
OMIM:253000 |
Axial Mesodermal Dysplasia Spectrum |
|
Congenital diaphragmatic hernia, Short neck, Missing ribs, Abnormal rib morphology, Abnormal form... |
ORPHA:1834 |
Osteogenesis Imperfecta, Type Ii |
|
Beaded ribs, Thin ribs, Tibial bowing, Bell-shaped thorax, Platyspondyly, Limb undergrowth, Thora... |
OMIM:166210 |
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly |
|
Knee flexion contracture, Femoral bowing, Short 5th metacarpal, Radial bowing, Rhizomelia, Broad ... |
OMIM:618019 |
Septopreoptic Holoprosencephaly |
|
Abnormal rib morphology, Abnormal vertebral morphology |
ORPHA:280195 |
Poland Syndrome |
|
Aplasia/Hypoplasia of the thumb, Congenital diaphragmatic hernia, Short neck, Aplasia of the pect... |
ORPHA:2911 |
Fibrochondrogenesis 1 |
|
Hypoplastic scapulae, Rhizomelia, Anterior rib cupping, Dumbbell-shaped long bone, Short neck, Th... |
OMIM:228520 |
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness |
|
Metaphyseal dysplasia, Brachydactyly, Lumbar hyperlordosis, Cupped ribs, Metaphyseal widening, Fl... |
OMIM:250420 |
Hypophosphatasia |
|
Bowing of the long bones, Abnormal metaphysis morphology, Abnormal rib morphology, Narrow chest |
ORPHA:436 |
Thoracic Outlet Syndrome |
|
Abnormal rib morphology |
ORPHA:97330 |
Three M Syndrome 2 |
|
Scapular winging, Lumbar hyperlordosis, Short neck, Hyperlordosis, Short thorax, Pectus carinatum... |
OMIM:612921 |
Frontometaphyseal Dysplasia 1 |
|
Skeletal muscle atrophy, Knee flexion contracture, Increased density of long bone diaphyses, Wris... |
OMIM:305620 |
Multiple Pterygium Syndrome, X-Linked |
|
Vertebral fusion, Abnormal cervical curvature, Flexion contracture, Thin ribs, Amyoplasia, Short ... |
OMIM:312150 |
Mucopolysaccharidosis Type 6 |
|
Ovoid vertebral bodies, Short neck, Kyphosis, Genu valgum, Macroglossia, Broad ribs, Abnormal met... |
ORPHA:583 |
Melnick-Needles Syndrome |
|
Bowing of the long bones, Coxa valga, Short thorax, Abnormal rib morphology, Osteolytic defects o... |
ORPHA:2484 |
Prune Belly Syndrome |
|
Pectus excavatum, Abnormal rib morphology, Aplasia of the abdominal wall musculature, Vertebral s... |
ORPHA:2970 |
Osteogenesis Imperfecta, Type Xvi |
|
Angulated humerus, Multiple rib fractures, Bowing of the long bones, Rhizomelia, Beaded ribs, Pla... |
OMIM:616229 |
Bent Bone Dysplasia Syndrome 2 |
|
Ulnar deviation of the hand, Bowed humerus, Short neck, Ulnar bowing, Femoral bowing, Thin ribs, ... |
OMIM:620076 |
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Syndactyly, Thoracic hypoplasia, Postaxial polydactyly, Micromelia, Lateral clavicle hook, Hypopl... |
OMIM:617895 |
Dysosteosclerosis |
|
Clavicular sclerosis, Sclerotic scapulae, Increased intervertebral space, Flared metaphysis, Abno... |
OMIM:224300 |
Spondylometaphyseal Dysplasia, Algerian Type |
|
Metaphyseal dysplasia, Lumbar hyperlordosis, Bowed humerus, Anterior rib cupping, Kyphoscoliosis,... |
OMIM:184253 |
Laryngotracheoesophageal Cleft Type 4 |
|
Abnormal rib morphology, Abnormal form of the vertebral bodies |
ORPHA:93941 |
Craniosynostosis, Herrmann-Opitz Type |
|
Finger syndactyly, Micromelia, Split hand, Abnormal rib morphology, Brachydactyly |
ORPHA:2145 |
Multiple Pterygium Syndrome, Lethal Type |
|
Vertebral fusion, Abnormal cervical curvature, Flexion contracture, Thin ribs, Amyoplasia, Short ... |
OMIM:253290 |
Cat-Eye Syndrome |
|
Abnormal rib morphology |
ORPHA:195 |
Ossification Anomalies-Psychomotor Developmental Delay Syndrome |
|
Decreased muscle mass, Metaphyseal widening, Abnormal thorax morphology, Abnormal form of the ver... |
ORPHA:73230 |
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies |
|
Sprengel anomaly, Abnormality of the vertebral column, Abnormal rib morphology |
OMIM:601076 |
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome |
|
Abnormal rib morphology, Micromelia |
ORPHA:2772 |
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Short palm, Rhizomelia, Metaphyseal chondrodysplasia, Thin ribs, Metaphyseal cupping of metacarpa... |
ORPHA:163966 |
Lethal Congenital Contracture Syndrome 10 |
|
Torticollis, Thoracic scoliosis, Short neck, Increased variability in muscle fiber diameter, Femo... |
OMIM:617022 |
Osteogenesis Imperfecta, Type X |
|
Multiple rib fractures, Bowing of the long bones, Short femur, Rhizomelia, Thoracic scoliosis, Mi... |
OMIM:613848 |
Kyphomelic Dysplasia |
|
Short humerus, Short metacarpal, Radial bowing, Short femur, Bowed humerus, Micromelia, Anterior ... |
OMIM:211350 |
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation |
|
Coat hanger sign of ribs, Diastasis recti, Thoracic hypoplasia |
ORPHA:254534 |
Cole-Carpenter Syndrome |
|
Bowing of the long bones, Kyphosis, Abnormal rib morphology, Abnormal form of the vertebral bodie... |
ORPHA:2050 |
Osteogenesis Imperfecta, Type Xviii |
|
Bowing of the long bones, Thin ribs, Femoral bowing, Biconcave vertebral bodies, Vertebral compre... |
OMIM:617952 |
Oculocerebrocutaneous Syndrome |
|
Finger syndactyly, Congenital diaphragmatic hernia, Aplasia/Hypoplasia of the distal phalanges of... |
ORPHA:1647 |
Cenani-Lenz Syndrome |
|
Hypoplasia of the ulna, Finger syndactyly, Toe syndactyly, Micromelia, Short thumb, Hypoplasia of... |
ORPHA:3258 |
Congenital Myopathy 22B, Severe Fetal |
|
Hip contracture, Scapular winging, Thoracic scoliosis, Limb joint contracture, Shoulder flexion c... |
OMIM:620369 |
Acrorenal-Mandibular Syndrome |
|
Hypoplasia of the ulna, Toe syndactyly, Hypoplastic scapulae, Congenital diaphragmatic hernia, Ky... |
OMIM:200980 |
Brachytelephalangic Chondrodysplasia Punctata |
|
Butterfly vertebrae, Cervical kyphosis, Abnormal ossification involving the femoral head and neck... |
ORPHA:79345 |
Multiple Pterygium-Malignant Hyperthermia Syndrome |
|
Skeletal muscle atrophy, Finger syndactyly, Congenital muscular torticollis, Arachnodactyly, Camp... |
ORPHA:2215 |
Campomelia, Cumming Type |
|
Abnormally ossified vertebrae, Bowing of the long bones, Micromelia, Abnormal thorax morphology, ... |
ORPHA:1318 |
Holzgreve Syndrome |
|
Abnormally ossified vertebrae, Abnormal morphology of ulna, Abnormal rib morphology, Hand polydac... |
ORPHA:2167 |
Cartilage-Hair Hypoplasia |
|
Micromelia, Short neck, Metaphyseal chondrodysplasia, Abnormal form of the vertebral bodies, Tibi... |
ORPHA:175 |
Greenberg Dysplasia |
|
Micromelia, Beaded ribs, Hypoplastic vertebral bodies, Hypoplasia of the calcaneus, Narrow chest,... |
OMIM:215140 |
Multiple Pterygium Syndrome, Escobar Variant |
|
Multiple joint contractures, Congenital diaphragmatic hernia, Short neck, Flexion contracture, Kn... |
OMIM:265000 |
Osteogenesis Imperfecta, Type Iii |
|
Kyphosis, Thin ribs, Tibial bowing, Scoliosis, Biconcave vertebral bodies |
OMIM:259420 |
Cantú Syndrome |
|
Finger syndactyly, Broad hallux phalanx, Ovoid vertebral bodies, Short hallux, Coxa valga, Short ... |
ORPHA:1517 |
Camptodactyly Syndrome, Guadalajara Type 3 |
|
Short neck, Small hand, Abnormal rib morphology, Short foot, Spina bifida occulta, Sternocleidoma... |
ORPHA:488434 |
Vacterl/Vater Association |
|
Finger syndactyly, Abnormal intervertebral disk morphology, Congenital diaphragmatic hernia, Prea... |
ORPHA:887 |
Trisomy 1Q |
|
Toe syndactyly, Arachnodactyly, Camptodactyly of finger, Congenital diaphragmatic hernia, Preaxia... |
ORPHA:261344 |
Achondrogenesis, Type Ii |
|
Barrel-shaped chest, Absent vertebral body mineralization, Short tubular bones of the hand, Short... |
OMIM:200610 |
Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Short metacarpal, Abnormal scapula morphology, Metaphyseal chondrodysplasia, Abnormal rib morphol... |
ORPHA:93317 |
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
|
Vertebral fusion, Block vertebrae, Short neck, Missing ribs, Hemivertebrae, Rib fusion, Thin ribs... |
OMIM:271520 |
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Hypoplasia of the ulna, Metaphyseal spurs, Postaxial polydactyly, Thoracic hypoplasia, Lateral cl... |
OMIM:613091 |
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome |
|
Postaxial hand polydactyly, Abnormal rib morphology, Abnormal sternum morphology, Short ribs, Bro... |
ORPHA:2519 |
Mucolipidosis Iii Alpha/Beta |
|
Soft tissue swelling of interphalangeal joints, Irregular carpal bones, Split hand, Short ribs, S... |
OMIM:252600 |
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion |
|
Long toe, Overlapping toe, Diastasis recti, Pectus excavatum, Flexion contracture, Macroglossia, ... |
ORPHA:254528 |
Mosaic Trisomy 8 |
|
Camptodactyly of finger, Short neck, Patellar aplasia, Abnormal rib morphology, Vertebral segment... |
ORPHA:96061 |
Osteogenesis Imperfecta, Type Viii |
|
Barrel-shaped chest, Short metacarpal, Radial bowing, Femoral retroversion, Kyphosis, Tibial bowi... |
OMIM:610915 |
Pyknoachondrogenesis |
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Micromelia, Short thorax, Poorly ossified vertebrae, Enlarged thorax, Unossified sacrum, Short ri... |
ORPHA:3003 |
Cleidocranial Dysplasia |
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Hypoplastic scapulae, Down-sloping shoulders, Tapered finger, Abnormal thumb morphology, Abnormal... |
ORPHA:1452 |
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
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Short metacarpal, Bowing of the long bones, Rhizomelia, Metaphyseal spurs, Ovoid vertebral bodies... |
ORPHA:85167 |
Radio-Renal Syndrome |
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Micromelia, Short neck, Hypoplasia of the radius, Abnormal rib morphology, Abnormal form of the v... |
ORPHA:3015 |
Familial Osteodysplasia, Anderson Type |
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Aplastic clavicle, Missing ribs, Kyphosis, Abnormal rib morphology, Bifid femur, Abnormal form of... |
ORPHA:2769 |
Basal Cell Nevus Syndrome 1 |
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Vertebral fusion, Down-sloping shoulders, Kyphoscoliosis, Irregular ossification of hand bones, H... |
OMIM:109400 |
Van Den Ende-Gupta Syndrome |
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Glenoid fossa hypoplasia, Lateral clavicle hook, 2-3 toe cutaneous syndactyly, Knee flexion contr... |
OMIM:600920 |
Trisomy 13 |
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Kyphosis, Postaxial hand polydactyly, Abnormal rib morphology, Ectrodactyly, Narrow chest, Scoliosis |
ORPHA:3378 |
Antley-Bixler Syndrome |
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Arachnodactyly, Camptodactyly of finger, Abnormal rib morphology, Femoral bowing, Narrow chest |
ORPHA:83 |
Schwartz-Jampel Syndrome |
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Skeletal muscle atrophy, Micromelia, Short neck, Coxa vara, Pectus carinatum, Wrist flexion contr... |
ORPHA:800 |
Alagille Syndrome |
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Hypoplasia of the ulna, Abnormal rib morphology, Abnormal form of the vertebral bodies, Vertebral... |
ORPHA:52 |
Spondylometaphyseal Dysplasia, Sedaghatian Type |
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11 pairs of ribs, Short metacarpal, Cone-shaped metacarpal epiphyses, Rhizomelia, Short neck, Irr... |
OMIM:250220 |
Spondyloepimetaphyseal Dysplasia, X-Linked |
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Anterior wedging of T12, Pectus carinatum, Long fibula, Short palm, Short phalanx of finger, Broa... |
OMIM:300106 |
Hurler Syndrome |
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Abnormal clavicle morphology, Camptodactyly of finger, Short neck, Abnormal rib morphology, Spina... |
ORPHA:93473 |
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
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Lateral clavicle hook, Preaxial hand polydactyly, Postaxial hand polydactyly, Pectus carinatum, D... |
OMIM:263520 |
Otopalatodigital Syndrome Type 2 |
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Bowing of the long bones, Tarsal synostosis, Short hallux, Camptodactyly of finger, Short thumb, ... |
ORPHA:90652 |
Autosomal Dominant Popliteal Pterygium Syndrome |
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Finger syndactyly, Toe syndactyly, Split hand, Abnormal rib morphology, Scoliosis |
ORPHA:1300 |
X-Linked Hypophosphatemia |
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Shortening of the talar neck, Bowing of the long bones, Bowing of the legs, Beaded ribs, Enlargem... |
ORPHA:89936 |
Tetraamelia-Multiple Malformations Syndrome |
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Abnormally ossified vertebrae, Abnormal rib morphology, Missing ribs |
ORPHA:3301 |
Monosomy 9Q22.3 |
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Rhabdomyosarcoma, Short neck, Pectus excavatum, Kyphosis, Abnormal rib morphology, Abnormality of... |
ORPHA:77301 |
Myhre Syndrome |
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Abnormal rib morphology, Skeletal muscle hypertrophy, Platyspondyly, Short palm, Abnormal metaphy... |
ORPHA:2588 |
Simpson-Golabi-Behmel Syndrome |
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Finger syndactyly, Vertebral fusion, Toe syndactyly, Short 2nd finger, Camptodactyly of finger, C... |
ORPHA:373 |
Fibrous Dysplasia Of Bone |
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Abnormal morphology of the radius, Bowing of the long bones, Abnormal clavicle morphology, Abnorm... |
ORPHA:249 |
Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
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Short neck, Hemivertebrae, Femoral bowing, Pectus carinatum, Foot oligodactyly, Aplasia/Hypoplasi... |
OMIM:276820 |
Aspergillosis |
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Abnormality of the vertebral column, Abnormal rib morphology |
ORPHA:1163 |
Monosomy 9P |
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Proximal placement of thumb, Congenital diaphragmatic hernia, Abnormality of the tarsal bones, Sh... |
ORPHA:261112 |
Osteogenesis Imperfecta |
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Cervical kyphosis, Micromelia, Abnormal tibia morphology, Flexion contracture, Abnormal femur mor... |
ORPHA:666 |
Osteogenesis Imperfecta, Type Vii |
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Multiple rib fractures, Rhizomelia, Femoral retroversion, Micromelia, Bowing of the legs, Pectus ... |
OMIM:610682 |
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
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Flexion contracture, Femoral bowing, Narrow chest, Abnormal vertebral morphology, Short metacarpa... |
ORPHA:95699 |
Pagod Syndrome |
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Abnormal clavicle morphology, Abnormal rib morphology, Congenital diaphragmatic hernia |
ORPHA:991 |
Ulbright-Hodes Syndrome |
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Short humerus, Short metacarpal, Short neck, Humeroradial synostosis, Hypoplasia of the radius, O... |
ORPHA:3404 |
Trisomy 18 |
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Camptodactyly of finger, Congenital diaphragmatic hernia, Postaxial hand polydactyly, Abnormal ri... |
ORPHA:3380 |
Smith-Lemli-Opitz Syndrome |
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Finger syndactyly, Rhizomelia, Congenital diaphragmatic hernia, Proximal placement of thumb, Shor... |
ORPHA:818 |
Mucopolysaccharidosis Type 3 |
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Abnormal clavicle morphology, Avascular necrosis of the capital femoral epiphysis, Flexion contra... |
ORPHA:581 |
Vater/Vacterl Association |
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Syndactyly, Absent radius, Short thumb, Hypoplasia of the radius, Preaxial polydactyly, Abnormal ... |
OMIM:192350 |
Dextrocardia |
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Abnormal rib morphology |
ORPHA:1666 |
Hereditary Acrokeratotic Poikiloderma |
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Finger syndactyly, Abnormal rib morphology, Camptodactyly of finger, Abnormal metacarpal morphology |
ORPHA:2907 |
Kindler Epidermolysis Bullosa |
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Finger syndactyly, Camptodactyly of finger, Flexion contracture, Abnormal rib morphology, Short 4... |
ORPHA:2908 |
Ear-Patella-Short Stature Syndrome |
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Camptodactyly of finger, Aplastic clavicle, Patellar aplasia, Abnormal rib morphology, Clinodacty... |
ORPHA:2554 |
Autosomal Recessive Malignant Osteopetrosis |
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Abnormal metaphysis morphology, Abnormal rib morphology, Narrow chest, Bowing of the long bones |
ORPHA:667 |
Alagille Syndrome 1 |
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Hypoplasia of the ulna, Abnormal rib morphology, Hemivertebrae, Butterfly vertebral arch, Short d... |
OMIM:118450 |
Charge Syndrome |
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Facial palsy, Abnormal tibia morphology, Hemivertebrae, Abnormal rib morphology, Bifid femur, Sco... |
ORPHA:138 |
Oculocerebrorenal Syndrome Of Lowe |
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Kyphosis, Abnormal rib morphology, Genu valgum, Platyspondyly, Scoliosis, Abnormal metaphysis mor... |
ORPHA:534 |
Townes-Brocks Syndrome |
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Broad hallux phalanx, Toe syndactyly, Preaxial hand polydactyly, Partial duplication of thumb pha... |
ORPHA:857 |
Charge Syndrome |
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Hypoplasia of the ulna, Facial palsy, Down-sloping shoulders, Absent radius, Short thumb, Hemiver... |
OMIM:214800 |