Cervical Rib |
|
Cervical ribs |
OMIM:117900 |
Neurogenic Thoracic Outlet Syndrome |
|
Abnormal rib morphology |
ORPHA:100073 |
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly |
|
Lateral clavicle hook, Postaxial hand polydactyly, Postaxial foot polydactyly, Trident acetabulum... |
OMIM:617405 |
Thoracomelic Dysplasia |
|
Bell-shaped thorax, Short ribs |
OMIM:273740 |
Thoracic Dysostosis, Isolated |
|
Pectus excavatum, Short ribs, Bell-shaped thorax |
OMIM:187750 |
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome |
|
Finger syndactyly, Abnormality of the elbow, Abnormal rib morphology, Pectus carinatum, Radioulna... |
ORPHA:3268 |
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome |
|
Abnormal rib morphology |
ORPHA:2435 |
Spondylometaphyseal Dysplasia, Type A4 |
|
Brachydactyly, Coxa valga, Metaphyseal sclerosis, Enlargement of the costochondral junction, Meta... |
OMIM:609052 |
Kyphomelic Dysplasia |
|
Bowing of the long bones, Anterior rib cupping, Missing ribs, Lateral clavicle hook, Short thorax... |
ORPHA:1801 |
Thoracolaryngopelvic Dysplasia |
|
Metaphyseal widening, Irregular chondrocostal junctions, Bell-shaped thorax, Narrow pelvis bone, ... |
OMIM:187760 |
Acrodysplasia Scoliosis |
|
Vertebral segmentation defect, Spina bifida occulta, Scoliosis, Brachydactyly |
ORPHA:2956 |
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly |
|
Postaxial polydactyly, Lateral clavicle hook, Bell-shaped thorax, Short long bone, Thoracic dyspl... |
OMIM:615633 |
Hypersulfaturia |
|
Costochondral pain |
OMIM:620372 |
Jeune Syndrome |
|
Abnormal clavicle morphology, Toe syndactyly, Postaxial hand polydactyly, Short thorax, Abnormal ... |
ORPHA:474 |
Mesomelic Dysplasia, Kantaputra Type |
|
Camptodactyly of finger, Tarsal synostosis, Abnormality of the humerus, Abnormal rib morphology, ... |
ORPHA:1836 |
Thin Ribs-Tubular Bones-Dysmorphism Syndrome |
|
Slender long bone, Abnormal pelvic girdle bone morphology, Abnormal rib morphology |
ORPHA:1506 |
Congenital Pseudoarthrosis Of The Clavicle |
|
Congenital pseudoarthrosis of the clavicle, Osteoarthritis, Cervical ribs |
ORPHA:66630 |
Spondylometaphyseal Dysplasia, A4 Type |
|
Flared, irregular rib ends, Coxa vara, Short palm |
ORPHA:168555 |
Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Short metacarpal, Osteoarthritis, Abnormal joint morphology, Abnormal carpal morphology, Short me... |
ORPHA:93351 |
Fibrochondrogenesis 2 |
|
Thoracic hypoplasia, Hypoplastic ilia, Cupped ribs, Metaphyseal widening, Hypoplastic pubic bone,... |
OMIM:614524 |
Metatropic Dysplasia |
|
Abnormal metaphyseal vascular invasion, Enlarged joints, Long coccyx, Halberd-shaped pelvis, Narr... |
OMIM:156530 |
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies |
|
Superior rib anomalies |
OMIM:307500 |
Craniodiaphyseal Dysplasia |
|
Abnormal rib morphology, Diaphyseal thickening |
ORPHA:1513 |
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies |
|
Pectus excavatum, Hypoplastic distal segments of scapulae, Abnormal rib morphology |
OMIM:602196 |
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type |
|
Dysplastic iliac wing, Metaphyseal spurs, Bowing of the legs, Pectus excavatum, Metaphyseal widen... |
OMIM:608728 |
Heart Defects-Limb Shortening Syndrome |
|
Abnormal metaphysis morphology, Abnormal rib morphology, Narrow chest |
ORPHA:1354 |
Endosteal Hyperostosis, Worth Type |
|
Clavicular sclerosis, Abnormal rib morphology, Diaphyseal thickening |
ORPHA:2790 |
Metaphyseal Chondrodysplasia, Schmid Type |
|
Broad proximal phalanges of the hand, Bowing of the legs, Short tubular bones of the hand, Proxim... |
ORPHA:174 |
Axial Spondylometaphyseal Dysplasia |
|
Thoracic scoliosis, Proximal femoral metaphyseal irregularity, Coxa vara, Deformed rib cage, Narr... |
ORPHA:168549 |
Poland Syndrome |
|
Syndactyly, Unilateral oligodactyly, Unilateral brachydactyly, Rib fusion, Short ribs, Sprengel a... |
OMIM:173800 |
Grant Syndrome |
|
Joint dislocation, Bowing of the long bones, Abnormal rib morphology, Abnormal pelvic girdle bone... |
ORPHA:2097 |
Spondylocostal Dysostosis 3, Autosomal Recessive |
|
Contracture of the proximal interphalangeal joint of the 2nd finger, Rib fusion, Slender finger |
OMIM:609813 |
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness |
|
Broad toe, Enlarged metacarpal epiphyses, Cupped ribs, Enlarged epiphyses of the phalanges of the... |
OMIM:609616 |
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe |
|
Bifid sternum, Supraumbilical raphe |
OMIM:140850 |
Holt-Oram Syndrome |
|
Finger syndactyly, Abnormal clavicle morphology, Down-sloping shoulders, Absent thumb, Abnormalit... |
ORPHA:392 |
Thoracic Outlet Syndrome |
|
Abnormal rib morphology |
ORPHA:97330 |
Metatropic Dysplasia |
|
Camptodactyly of finger, Abnormal rib morphology, Long thorax, Halberd-shaped pelvis, Narrow ches... |
ORPHA:2635 |
Sprengel Deformity |
|
Rib segmentation abnormalities, Sprengel anomaly |
OMIM:184400 |
Spondylocostal Dysostosis 5 |
|
Vertebral fusion, Missing ribs, Pectus carinatum, Posterior rib fusion, Supernumerary ribs |
OMIM:122600 |
Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Radial bowing, Osteoarthritis, Ulnar bowing, Flared metaphysis, Coxa vara, Tibial bowing, Femoral... |
OMIM:602111 |
Osteogenesis Imperfecta, Type Ix |
|
Beaded ribs, Pectus excavatum, Pectus carinatum, Wormian bones, Short lower limbs |
OMIM:259440 |
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Abnormal clavicle morphology, Bowing of the long bones, Proximal placement of thumb, Abnormal rib... |
ORPHA:93267 |
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness |
|
Metaphyseal dysplasia, Brachydactyly, Irregular iliac crest, Cupped ribs, Metaphyseal widening, F... |
OMIM:250420 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3 |
|
Hypoplasia of the ulna, Tapered finger, Multiple joint dislocation, Hip dislocation, Thin ribs, K... |
OMIM:618395 |
10Q22.3Q23.3 Microduplication Syndrome |
|
Abnormal clavicle morphology, Abnormal rib morphology |
ORPHA:276422 |
Spondylocostal Dysostosis 2, Autosomal Recessive |
|
Rib fusion |
OMIM:608681 |
Juberg-Hayward Syndrome |
|
Toe syndactyly, Short thumb, Hypoplasia of the radius, Abnormal finger morphology, Abnormal rib m... |
ORPHA:2319 |
Diastrophic Dysplasia |
|
Joint dislocation, Abnormal clavicle morphology, Bowing of the long bones, Camptodactyly of finge... |
ORPHA:628 |
Acrocapitofemoral Dysplasia |
|
Short proximal phalanx of thumb, Coxa vara, Pectus carinatum, Narrow chest, Short palm, Hypoplast... |
OMIM:607778 |
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy |
|
Short metacarpal, Cupped ribs, Metaphyseal widening, Coxa vara, Tibial bowing, Femoral bowing, Na... |
OMIM:608940 |
Fibrochondrogenesis 1 |
|
Narrow greater sciatic notch, Short palm, Clinodactyly of the 5th finger, Widely patent sagittal ... |
OMIM:228520 |
Microcephalic Primordial Dwarfism, Toriello Type |
|
Abnormal rib morphology, Abnormal epiphysis morphology, Brachydactyly |
ORPHA:2643 |
Autosomal Dominant Spondylocostal Dysostosis |
|
Short thorax, Posterior rib fusion, Abnormal rib morphology, Missing ribs |
ORPHA:1797 |
Osteogenesis Imperfecta, Type Ii |
|
Crumpled long bones, Broad long bones, Beaded ribs, Tibial bowing, Thin ribs, Bell-shaped thorax,... |
OMIM:166210 |
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Syndactyly, Thoracic hypoplasia, Postaxial polydactyly, Hypoplastic ilia, Lateral clavicle hook, ... |
OMIM:617895 |
Hypophosphatasia |
|
Bowing of the long bones, Craniosynostosis, Abnormal rib morphology, Narrow chest, Abnormal metap... |
ORPHA:436 |
Femoral-Facial Syndrome |
|
Short femur, Abnormal rib morphology, Rib fusion, Coxa vara, Abnormal fibula morphology, Abnormal... |
ORPHA:1988 |
Cat-Eye Syndrome |
|
Hip dysplasia, Abnormal rib morphology |
ORPHA:195 |
Spondylometaphyseal Dysplasia, Algerian Type |
|
Metaphyseal dysplasia, Bowed humerus, Anterior rib cupping, Short tubular bones of the hand, Tibi... |
OMIM:184253 |
Mosaic Trisomy 14 |
|
Narrow chest, Abnormal rib morphology, Camptodactyly of finger |
ORPHA:1703 |
Isolated Klippel-Feil Syndrome |
|
Abnormal rib morphology, Abnormal shoulder morphology, Cervical C2/C3 vertebral fusion, Sprengel ... |
ORPHA:2345 |
Dyggve-Melchior-Clausen Disease |
|
Glenoid fossa hypoplasia, Coxa vara, Pectus carinatum, Broad ribs, Iliac crest serration, Horizon... |
ORPHA:239 |
White Forelock With Malformations |
|
Clinodactyly of the 5th finger, Finger syndactyly, Sprengel anomaly, Abnormal rib morphology |
ORPHA:2475 |
Becker Nevus Syndrome |
|
Pectus excavatum, Abnormal tibia morphology, Rib fusion, Pectus carinatum, Supernumerary ribs |
ORPHA:64755 |
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome |
|
Broad hallux phalanx, Toe syndactyly, Metatarsus valgus, Aplasia/Hypoplasia of toe, Postaxial han... |
ORPHA:3082 |
Fibrochondrogenesis |
|
Hypoplastic scapulae, Camptodactyly of finger, Abnormal rib morphology, Bell-shaped thorax, Abnor... |
ORPHA:2021 |
Achondrogenesis Type 1B |
|
Short foot, Short thorax, Abnormal rib morphology, Narrow chest |
ORPHA:93298 |
Microcephaly-Cervical Spine Fusion Anomalies Syndrome |
|
Abnormal clavicle morphology, Pectus excavatum, Abnormal rib morphology, Fused cervical vertebrae... |
ORPHA:2522 |
Melnick-Needles Syndrome |
|
Bowing of the long bones, Coxa valga, Short thorax, Abnormal rib morphology, Hip dislocation, Con... |
ORPHA:2484 |
Lethal Congenital Contracture Syndrome Type 1 |
|
Slender long bone, Abnormality of the elbow, Abnormal rib morphology, Abnormal hip bone morphology |
ORPHA:1486 |
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type |
|
Radial bowing, Thoracic hypoplasia, Dumbbell-shaped long bone, Hypoplastic ischia, Hypoplastic il... |
OMIM:151210 |
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2 |
|
Abnormal rib morphology |
ORPHA:2578 |
Craniosynostosis, Herrmann-Opitz Type |
|
Finger syndactyly, Craniosynostosis, Split hand, Abnormal rib morphology, Brachydactyly |
ORPHA:2145 |
Kenny-Caffey Syndrome, Type 1 |
|
Long clavicles, Delayed closure of the anterior fontanelle, Thin clavicles, Small hand, Thin ribs... |
OMIM:244460 |
Mucolipidosis Iii Alpha/Beta |
|
Soft tissue swelling of interphalangeal joints, Craniosynostosis, Irregular carpal bones, Split h... |
OMIM:252600 |
Achondrogenesis, Type Ia |
|
Abnormal femoral metaphysis morphology, Barrel-shaped chest, Hypoplastic scapulae, Bowing of the ... |
OMIM:200600 |
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome |
|
Bowing of the long bones, Radial bowing, Abnormal rib morphology, Abnormal fibula morphology, Tib... |
ORPHA:3035 |
Kyphomelic Dysplasia |
|
Short humerus, Short metacarpal, Radial bowing, Short femur, Bowed humerus, Anterior rib cupping,... |
OMIM:211350 |
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Hypoplasia of the ulna, Metaphyseal spurs, Postaxial polydactyly, Thoracic hypoplasia, Lateral cl... |
OMIM:613091 |
Eiken Syndrome |
|
Broad femoral neck, Delayed epiphyseal ossification, Long thumb, Flat acetabular roof, Fibular hy... |
OMIM:600002 |
Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Delayed epiphyseal ossification, Long fibula, Narrow greater sciatic notch, Narrow chest, Short p... |
OMIM:250220 |
Cooper-Jabs Syndrome |
|
Camptodactyly of finger, Proximal placement of thumb, Missing ribs, Abnormal rib morphology, Abno... |
ORPHA:1488 |
Ellis-Van Creveld Syndrome |
|
Capitate-hamate fusion, Postaxial hand polydactyly, Genu valgum, Postaxial foot polydactyly, Pect... |
OMIM:225500 |
Cenani-Lenz Syndrome |
|
Hypoplasia of the ulna, Finger syndactyly, Toe syndactyly, Elbow dislocation, Short thumb, Hypopl... |
ORPHA:3258 |
Renpenning Syndrome |
|
Pectus excavatum, Abnormal thumb morphology, Abnormal rib morphology, Clinodactyly of the 5th fin... |
ORPHA:3242 |
Phaver Syndrome |
|
Broad hallux phalanx, Camptodactyly of finger, Short thumb, Abnormal rib morphology, Ulnar deviat... |
ORPHA:2876 |
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome |
|
Postaxial hand polydactyly, Abnormal rib morphology, Abnormal sternum morphology, Short ribs, Bro... |
ORPHA:2519 |
Antley-Bixler Syndrome |
|
Arachnodactyly, Camptodactyly of finger, Craniosynostosis, Abnormal rib morphology, Femoral bowin... |
ORPHA:83 |
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies |
|
Sprengel anomaly, Abnormal rib morphology |
OMIM:601076 |
Klippel-Feil Syndrome 1, Autosomal Dominant |
|
Cervical C2/C3 vertebral fusion, Sprengel anomaly, Abnormal vertebral segmentation and fusion, Ab... |
OMIM:118100 |
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome |
|
Abnormal rib morphology, Abnormality of the humeroulnar joint |
ORPHA:2234 |
Imperforate Oropharynx-Costovertebral Anomalies Syndrome |
|
Clinodactyly of the 5th finger, Abnormal rib morphology, Arachnodactyly, Missing ribs |
ORPHA:2759 |
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome |
|
Sandal gap, Sprengel anomaly, Abnormal rib morphology, Brachydactyly |
ORPHA:2180 |
Cleidocranial Dysplasia |
|
Wormian bones, Hypoplastic scapulae, Down-sloping shoulders, Tapered finger, Abnormal thumb morph... |
ORPHA:1452 |
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome |
|
Abnormal rib morphology |
ORPHA:2772 |
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Hypoplasia of the ulna, Lateral clavicle hook, Early ossification of capital femoral epiphyses, C... |
OMIM:208500 |
Septopreoptic Holoprosencephaly |
|
Abnormal rib morphology |
ORPHA:280195 |
Mucopolysaccharidosis Type 4 |
|
Joint dislocation, Bowing of the long bones, Coxa valga, Short thorax, Abnormal rib morphology, G... |
ORPHA:582 |
Laryngotracheoesophageal Cleft Type 4 |
|
Abnormal rib morphology |
ORPHA:93941 |
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
|
Proximal placement of thumb, Abnormal thumb morphology, Short thumb, Preaxial hand polydactyly, A... |
ORPHA:1120 |
Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Short metacarpal, Iliac crest serration, Abnormal scapula morphology, Metaphyseal chondrodysplasi... |
ORPHA:93317 |
Autosomal Recessive Spondylocostal Dysostosis |
|
Rib segmentation abnormalities, Finger syndactyly, Camptodactyly of finger, Short thorax, Rib fus... |
ORPHA:2311 |
X-Linked Hypophosphatemia |
|
Shortening of the talar neck, Bowing of the long bones, Craniosynostosis, Bowing of the legs, Bea... |
ORPHA:89936 |
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome |
|
Clinodactyly of the 5th finger, Abnormal rib morphology, Abnormal hip bone morphology, Pectus car... |
ORPHA:3068 |
Spondyloepimetaphyseal Dysplasia, X-Linked |
|
Pectus carinatum, Long fibula, Short palm, Short phalanx of finger, Broad metacarpals, Genu varum... |
OMIM:300106 |
Oculocerebrocutaneous Syndrome |
|
Finger syndactyly, Congenital hip dislocation, Aplasia/Hypoplasia of the distal phalanges of the ... |
ORPHA:1647 |
Poland Syndrome |
|
Aplasia/Hypoplasia of the thumb, Pectus carinatum, Abnormal sternum morphology, Finger syndactyly... |
ORPHA:2911 |
Pyknoachondrogenesis |
|
Hypoplastic ischia, Short iliac bones, Short thorax, Abnormal iliac wing morphology, Enlarged tho... |
ORPHA:3003 |
Cole-Carpenter Syndrome |
|
Crumpled long bones, Bowing of the long bones, Abnormal rib morphology, Wormian bones, Abnormal m... |
ORPHA:2050 |
Holzgreve Syndrome |
|
Hand polydactyly, Abnormal rib morphology, Abnormal morphology of ulna, Abnormal metacarpal morph... |
ORPHA:2167 |
Campomelia, Cumming Type |
|
Bowing of the long bones, Abnormal thorax morphology, Abnormal rib morphology, Clubbing of toes, ... |
ORPHA:1318 |
Trisomy 13 |
|
Postaxial hand polydactyly, Abnormal rib morphology, Abnormal pelvic girdle bone morphology, Ectr... |
ORPHA:3378 |
Prune Belly Syndrome |
|
Pectus excavatum, Congenital hip dislocation, Abnormal rib morphology |
ORPHA:2970 |
Otopalatodigital Syndrome Type 2 |
|
Bowing of the long bones, Tarsal synostosis, Short hallux, Camptodactyly of finger, Elbow disloca... |
ORPHA:90652 |
Cartilage-Hair Hypoplasia |
|
Metaphyseal dysplasia, Bowing of the long bones, Abnormal distal phalanx morphology of finger, Fl... |
ORPHA:175 |
Trisomy 1Q |
|
Toe syndactyly, Arachnodactyly, Camptodactyly of finger, Preaxial hand polydactyly, Short thorax,... |
ORPHA:261344 |
Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
|
Femoral bowing, Pectus carinatum, Foot oligodactyly, Aplasia/Hypoplasia of the tarsal bones, Phoc... |
OMIM:276820 |
Axial Mesodermal Dysplasia Spectrum |
|
Abnormality of the knee, Abnormal pelvic girdle bone morphology, Abnormal rib morphology, Missing... |
ORPHA:1834 |
Multiple Pterygium-Malignant Hyperthermia Syndrome |
|
Finger syndactyly, Prominent metopic ridge, Arachnodactyly, Camptodactyly of finger, Tapered fing... |
ORPHA:2215 |
Familial Osteodysplasia, Anderson Type |
|
Aplastic clavicle, Missing ribs, Elbow dislocation, Abnormal rib morphology, Bifid femur, Aplasia... |
ORPHA:2769 |
Autosomal Dominant Popliteal Pterygium Syndrome |
|
Finger syndactyly, Toe syndactyly, Split hand, Abnormal rib morphology, Popliteal pterygium |
ORPHA:1300 |
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Femoral bowing, Narrow chest, Abnormality of the wrist, Elbow ankylosis, Short metacarpal, Abnorm... |
ORPHA:95699 |
Tetraamelia-Multiple Malformations Syndrome |
|
Aplasia/Hypoplasia involving the pelvis, Abnormal rib morphology, Missing ribs |
ORPHA:3301 |
Radio-Renal Syndrome |
|
Hypoplasia of the radius, Abnormal rib morphology, Abnormality of the elbow, Short palm, Brachyda... |
ORPHA:3015 |
Mosaic Trisomy 8 |
|
Camptodactyly of finger, Patellar aplasia, Abnormal rib morphology, Narrow pelvis bone, Narrow ch... |
ORPHA:96061 |
Aspergillosis |
|
Abnormal long bone morphology, Abnormal rib morphology |
ORPHA:1163 |
Schwartz-Jampel Syndrome |
|
Hip contracture, Bowing of the long bones, Shoulder flexion contracture, Protrusio acetabuli, Cox... |
ORPHA:800 |
Fibrous Dysplasia Of Bone |
|
Abnormal morphology of the radius, Bowing of the long bones, Abnormal pelvis bone morphology, Abn... |
ORPHA:249 |
Hurler Syndrome |
|
Abnormal clavicle morphology, Camptodactyly of finger, Abnormality of the elbow, Abnormal rib mor... |
ORPHA:93473 |
Alagille Syndrome |
|
Clinodactyly of the 5th finger, Hypoplasia of the ulna, Abnormal rib morphology, Short distal pha... |
ORPHA:52 |
Vacterl/Vater Association |
|
Preaxial hand polydactyly, Finger syndactyly, Aplasia/Hypoplasia of the radius, Abnormal rib morp... |
ORPHA:887 |
Osteogenesis Imperfecta |
|
Abnormal tibia morphology, Osteoarthritis, Abnormal femur morphology, Femoral bowing, Abnormal lo... |
ORPHA:666 |
Myhre Syndrome |
|
Brachydactyly, Abnormal rib morphology, Abnormal epiphysis morphology, Short palm, Large iliac wi... |
ORPHA:2588 |
Dextrocardia |
|
Congenital hip dislocation, Abnormal rib morphology |
ORPHA:1666 |
Ear-Patella-Short Stature Syndrome |
|
Camptodactyly of finger, Aplastic clavicle, Craniosynostosis, Elbow dislocation, Patellar aplasia... |
ORPHA:2554 |
Camptodactyly Syndrome, Guadalajara Type 3 |
|
Abnormal rib morphology, Small hand, Short foot, Thickened cortex of long bones, Broad femoral neck |
ORPHA:488434 |
Ulbright-Hodes Syndrome |
|
Short humerus, Short metacarpal, Humeroradial synostosis, Abnormal rib morphology, Hypoplasia of ... |
ORPHA:3404 |
Trisomy 18 |
|
Camptodactyly of finger, Postaxial hand polydactyly, Abnormal rib morphology, Deviation of finger... |
ORPHA:3380 |
Monosomy 9Q22.3 |
|
Pectus excavatum, Polydactyly, Abnormal rib morphology, Metopic synostosis |
ORPHA:77301 |
Hereditary Acrokeratotic Poikiloderma |
|
Finger syndactyly, Camptodactyly of finger, Abnormal rib morphology, Abnormal hip bone morphology... |
ORPHA:2907 |
Simpson-Golabi-Behmel Syndrome |
|
Vertebral fusion, Finger syndactyly, Congenital hip dislocation, Toe syndactyly, Camptodactyly of... |
ORPHA:373 |
Autosomal Recessive Malignant Osteopetrosis |
|
Bowing of the long bones, Craniosynostosis, Abnormal rib morphology, Abnormal epiphysis morpholog... |
ORPHA:667 |
Smith-Lemli-Opitz Syndrome |
|
Finger syndactyly, Proximal placement of thumb, Postaxial hand polydactyly, Split hand, Abnormal ... |
ORPHA:818 |
Mucopolysaccharidosis Type 3 |
|
Abnormal clavicle morphology, Avascular necrosis of the capital femoral epiphysis, Abnormal rib m... |
ORPHA:581 |
Vater/Vacterl Association |
|
Syndactyly, Absent radius, Short thumb, Hypoplasia of the radius, Abnormal rib morphology, Preaxi... |
OMIM:192350 |
Kindler Epidermolysis Bullosa |
|
Finger syndactyly, Camptodactyly of finger, Abnormal rib morphology, Short 4th metacarpal, Short ... |
ORPHA:2908 |
Monosomy 9P |
|
Abnormality of the tarsal bones, Postaxial hand polydactyly, Abnormal rib morphology, Proximal pl... |
ORPHA:261112 |
Oculocerebrorenal Syndrome Of Lowe |
|
Abnormal rib morphology, Hip dislocation, Genu valgum, Arthritis, Joint swelling, Abnormal epiphy... |
ORPHA:534 |
Pagod Syndrome |
|
Abnormal clavicle morphology, Abnormal rib morphology |
ORPHA:991 |
Alagille Syndrome 1 |
|
Hypoplasia of the ulna, Abnormal rib morphology, Short distal phalanx of finger |
OMIM:118450 |
Townes-Brocks Syndrome |
|
Broad hallux phalanx, Toe syndactyly, Preaxial hand polydactyly, Partial duplication of thumb pha... |
ORPHA:857 |
Charge Syndrome |
|
Abnormal tibia morphology, Abnormal rib morphology, Bifid femur, Clinodactyly of the 5th finger, ... |
ORPHA:138 |
Charge Syndrome |
|
Hypoplasia of the ulna, Down-sloping shoulders, Absent radius, Short thumb, Radial head subluxati... |
OMIM:214800 |