Cervical Rib |
|
Cervical ribs |
OMIM:117900 |
Neurogenic Thoracic Outlet Syndrome |
|
Abnormal rib morphology |
ORPHA:100073 |
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly |
|
Narrow chest, Postaxial foot polydactyly, Acetabular spurs, Horizontal ribs, Short ribs, Brachyda... |
OMIM:617405 |
Thoracomelic Dysplasia |
|
Bell-shaped thorax, Short ribs |
OMIM:273740 |
Thoracic Dysostosis, Isolated |
|
Pectus excavatum, Bell-shaped thorax, Short ribs |
OMIM:187750 |
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome |
|
Pectus carinatum, Finger syndactyly, Radioulnar synostosis, Abnormal rib morphology, Clinodactyly... |
ORPHA:3268 |
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome |
|
Abnormal rib morphology |
ORPHA:2435 |
Spondylometaphyseal Dysplasia, Type A4 |
|
Pectus carinatum, Irregular patellae, Hypoplasia of the capital femoral epiphysis, Metaphyseal sc... |
OMIM:609052 |
Thoracolaryngopelvic Dysplasia |
|
Hypoplastic iliac wing, Hypoplastic pelvis, Bell-shaped thorax, Horizontal ribs, Short ribs, Meta... |
OMIM:187760 |
Kyphomelic Dysplasia |
|
Narrow chest, Undulate ribs, Missing ribs, Bowing of the long bones, Anterior rib cupping, Short ... |
ORPHA:1801 |
Acrodysplasia Scoliosis |
|
Spina bifida occulta, Scoliosis, Brachydactyly, Vertebral segmentation defect |
ORPHA:2956 |
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly |
|
Narrow chest, Thoracic dysplasia, Bell-shaped thorax, Horizontal ribs, Postaxial polydactyly, Bra... |
OMIM:615633 |
Hypersulfaturia |
|
Costochondral pain |
OMIM:620372 |
Jeune Syndrome |
|
Abnormal pelvic girdle bone morphology, Toe syndactyly, Postaxial foot polydactyly, Cone-shaped e... |
ORPHA:474 |
Mesomelic Dysplasia, Kantaputra Type |
|
Ulnar deviation of finger, Abnormality of the ankle, Synostosis of carpal bones, Camptodactyly of... |
ORPHA:1836 |
Thin Ribs-Tubular Bones-Dysmorphism Syndrome |
|
Abnormal pelvic girdle bone morphology, Slender long bone, Abnormal rib morphology |
ORPHA:1506 |
Congenital Pseudoarthrosis Of The Clavicle |
|
Congenital pseudoarthrosis of the clavicle, Osteoarthritis, Cervical ribs |
ORPHA:66630 |
Spondylometaphyseal Dysplasia, A4 Type |
|
Coxa vara, Short palm, Flared, irregular rib ends |
ORPHA:168555 |
Fibrochondrogenesis 2 |
|
Hypoplastic ilia, Metaphyseal cupping, Thoracic hypoplasia, Bell-shaped thorax, Short ribs, Cuppe... |
OMIM:614524 |
Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Pectus carinatum, Synostosis of carpal bones, Abnormal epiphysis morphology, Abnormal joint morph... |
ORPHA:93351 |
Metatropic Dysplasia |
|
Epiphyseal dysplasia, Caudal appendage, Genu valgum, Flat acetabular roof, Dumbbell-shaped metaph... |
OMIM:156530 |
Hypogonadism, Male, With Impaired Intellectual Development And Skeletal Anomalies |
|
Superior rib anomalies |
OMIM:307500 |
Craniodiaphyseal Dysplasia |
|
Diaphyseal undertubulation, Abnormal rib morphology |
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 |
Heart Defects-Limb Shortening Syndrome |
|
Narrow chest, Abnormal metaphysis morphology, Abnormal rib morphology |
ORPHA:1354 |
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type |
|
Metaphyseal spurs, Posterior rib cupping, Thoracic hypoplasia, Irregular epiphyses, Small epiphys... |
OMIM:608728 |
Endosteal Hyperostosis, Worth Type |
|
Clavicular sclerosis, Diaphyseal undertubulation, Abnormal rib morphology |
ORPHA:2790 |
Metaphyseal Chondrodysplasia, Schmid Type |
|
Radial metaphyseal irregularity, Anterior rib cupping, Genu varum, Femoral bowing, Short long bon... |
ORPHA:174 |
Axial Spondylometaphyseal Dysplasia |
|
Abnormal ilium morphology, Hypoplastic iliac wing, Abnormal metacarpal morphology, Flat acetabula... |
ORPHA:168549 |
Grant Syndrome |
|
Abnormality of the glenoid fossa, Abnormal pelvic girdle bone morphology, Narrow chest, Joint dis... |
ORPHA:2097 |
Poland Syndrome |
|
Short ribs, Rib fusion, Unilateral oligodactyly, Sprengel anomaly, Unilateral brachydactyly, Synd... |
OMIM:173800 |
Spondylocostal Dysostosis 3, Autosomal Recessive |
|
Rib fusion, Slender finger, Contracture of the proximal interphalangeal joint of the 2nd finger |
OMIM:609813 |
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness |
|
Hypoplastic iliac wing, Enlarged epiphyses of the phalanges of the hand, Distal ulnar epiphyseal ... |
OMIM:609616 |
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe |
|
Bifid sternum, Supraumbilical raphe |
OMIM:140850 |
Holt-Oram Syndrome |
|
Broad thumb, Aplasia/Hypoplasia of the radius, Finger syndactyly, Absent thumb, Abnormal clavicle... |
ORPHA:392 |
Thoracic Outlet Syndrome |
|
Abnormal rib morphology |
ORPHA:97330 |
Metatropic Dysplasia |
|
Narrow chest, Coarse metaphyseal trabecularization, Camptodactyly of finger, Halberd-shaped pelvi... |
ORPHA:2635 |
Sprengel Deformity |
|
Sprengel anomaly, Rib segmentation abnormalities |
OMIM:184400 |
Spondylocostal Dysostosis 5 |
|
Pectus carinatum, Missing ribs, Supernumerary ribs, Vertebral fusion, Posterior rib fusion |
OMIM:122600 |
Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Metaphyseal cupping, Radial bowing, Flared metaphysis, Small epiphyses, Femoral bowing, Limited e... |
OMIM:602111 |
Osteogenesis Imperfecta, Type Ix |
|
Pectus carinatum, Multiple rib fractures, Wormian bones, Pectus excavatum, Short lower limbs |
OMIM:259440 |
Spondylocostal Dysostosis 2, Autosomal Recessive |
|
Rib fusion |
OMIM:608681 |
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Narrow chest, Abnormal epiphysis morphology, Abnormal clavicle morphology, Abnormal metaphysis mo... |
ORPHA:93267 |
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness |
|
Metaphyseal cupping, Flat glenoid fossa, Irregular iliac crest, Irregular chondrocostal junctions... |
OMIM:250420 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3 |
|
Thin ribs, Multiple joint dislocation, Short femoral neck, Knee dislocation, Carpal bone hypoplas... |
OMIM:618395 |
10Q22.3Q23.3 Microduplication Syndrome |
|
Abnormal clavicle morphology, Abnormal rib morphology |
ORPHA:276422 |
Diastrophic Dysplasia |
|
Ulnar deviation of finger, Joint dislocation, Elbow dislocation, Abnormal epiphysis morphology, S... |
ORPHA:628 |
Dyggve-Melchior-Clausen Disease |
|
Epiphyseal dysplasia, Genu valgum, Horizontal inferior border of scapula, Metaphyseal dysplasia, ... |
ORPHA:239 |
Juberg-Hayward Syndrome |
|
Toe syndactyly, Short thumb, Abnormality of the wrist, Radioulnar synostosis, Abnormal metacarpal... |
ORPHA:2319 |
Acrocapitofemoral Dysplasia |
|
Short tibia, Radial bowing, Hypoplastic iliac wing, Dysplasia of the femoral head, Cone-shaped ep... |
OMIM:607778 |
Fibrochondrogenesis 1 |
|
Thin ribs, Hypoplastic scapulae, Joint contracture of the hand, Small hand, Broad long bones, Bro... |
OMIM:228520 |
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Hypoplastic ilia, Narrow chest, Thoracic hypoplasia, Lateral clavicle hook, Horizontal ribs, Shor... |
OMIM:617895 |
Microcephalic Primordial Dwarfism, Toriello Type |
|
Abnormal epiphysis morphology, Brachydactyly, Abnormal rib morphology |
ORPHA:2643 |
Autosomal Dominant Spondylocostal Dysostosis |
|
Missing ribs, Posterior rib fusion, Short thorax, Abnormal rib morphology |
ORPHA:1797 |
Osteogenesis Imperfecta, Type Ii |
|
Thin ribs, Abnormal pelvic girdle bone morphology, Thoracic hypoplasia, Broad long bones, Bell-sh... |
OMIM:166210 |
Femoral-Facial Syndrome |
|
Aplasia/Hypoplasia of the tibia, Abnormal pelvic girdle bone morphology, Abnormal rib morphology,... |
ORPHA:1988 |
Mosaic Trisomy 14 |
|
Narrow chest, Abnormal rib morphology, Camptodactyly of finger |
ORPHA:1703 |
Hypophosphatasia |
|
Narrow chest, Bowing of the long bones, Abnormal rib morphology, Craniosynostosis, Abnormal metap... |
ORPHA:436 |
Cat-Eye Syndrome |
|
Hip dysplasia, Abnormal rib morphology |
ORPHA:195 |
Spondylometaphyseal Dysplasia, Algerian Type |
|
Hypoplasia of proximal radius, Short tubular bones of the hand, Flared femoral metaphysis, Genu v... |
OMIM:184253 |
Isolated Klippel-Feil Syndrome |
|
Abnormal shoulder morphology, Cervical C2/C3 vertebral fusion, Sprengel anomaly, Abnormal rib mor... |
ORPHA:2345 |
Becker Nevus Syndrome |
|
Pectus carinatum, Abnormal tibia morphology, Supernumerary ribs, Rib fusion, Pectus excavatum |
ORPHA:64755 |
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome |
|
Aplasia/Hypoplasia of fingers, Pectus carinatum, Toe syndactyly, Abnormal epiphysis morphology, M... |
ORPHA:3082 |
White Forelock With Malformations |
|
Clinodactyly of the 5th finger, Sprengel anomaly, Finger syndactyly, Abnormal rib morphology |
ORPHA:2475 |
Fibrochondrogenesis |
|
Hypoplastic scapulae, Narrow chest, Abnormal diaphysis morphology, Camptodactyly of finger, Broad... |
ORPHA:2021 |
Microcephaly-Cervical Spine Fusion Anomalies Syndrome |
|
Abnormal clavicle morphology, Abnormal hip bone morphology, Abnormal rib morphology, Pectus excav... |
ORPHA:2522 |
Achondrogenesis Type 1B |
|
Narrow chest, Short foot, Short thorax, Abnormal rib morphology |
ORPHA:93298 |
Melnick-Needles Syndrome |
|
Short distal phalanx of finger, Hip dislocation, Narrow chest, Short thorax, Delayed cranial sutu... |
ORPHA:2484 |
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type |
|
Thin ribs, Hypoplastic ilia, Metaphyseal cupping, Narrow chest, Thoracolumbar kyphosis, Radial bo... |
OMIM:151210 |
Lethal Congenital Contracture Syndrome Type 1 |
|
Abnormal hip bone morphology, Abnormality of the elbow, Slender long bone, Abnormal rib morphology |
ORPHA:1486 |
Craniosynostosis, Herrmann-Opitz Type |
|
Finger syndactyly, Brachydactyly, Split hand, Abnormal rib morphology, Craniosynostosis |
ORPHA:2145 |
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2 |
|
Abnormal rib morphology |
ORPHA:2578 |
Kenny-Caffey Syndrome, Type 1 |
|
Thin ribs, Small hand, Slender long bone, Delayed closure of the anterior fontanelle, Long clavic... |
OMIM:244460 |
Achondrogenesis, Type Ia |
|
Broad clavicles, Hypoplastic scapulae, Narrow chest, Abnormal femoral metaphysis morphology, Bowi... |
OMIM:200600 |
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome |
|
Radial bowing, Tibial bowing, Lower limb undergrowth, Bowing of the long bones, Abnormal fibula m... |
ORPHA:3035 |
Kyphomelic Dysplasia |
|
Radial bowing, Flared metaphysis, Thoracic hypoplasia, Pterygium, Dumbbell-shaped humerus, Latera... |
OMIM:211350 |
Eiken Syndrome |
|
Delayed epiphyseal ossification, Broad femoral neck, Clinodactyly, Long hallux, Broad ribs, Broad... |
OMIM:600002 |
Klippel-Feil Syndrome 1, Autosomal Dominant |
|
Cervical C2/C3 vertebral fusion, Sprengel anomaly, Abnormal limb bone morphology, Abnormal rib mo... |
OMIM:118100 |
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Cone-shaped epiphysis, Metaphyseal spurs, Thoracic hypoplasia, Preaxial polydactyly, Acetabular s... |
OMIM:613091 |
Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Delayed epiphyseal ossification, Widened greater sciatic notch, Horizontal inferior border of sca... |
OMIM:250220 |
Phaver Syndrome |
|
Ulnar deviation of finger, Broad thumb, Short thumb, Camptodactyly of finger, Pterygium, Radiouln... |
ORPHA:2876 |
Ellis-Van Creveld Syndrome |
|
Pectus carinatum, Capitate-hamate fusion, Postaxial foot polydactyly, Narrow chest, Hypoplastic i... |
OMIM:225500 |
Cooper-Jabs Syndrome |
|
Camptodactyly of finger, Abnormal hip bone morphology, Missing ribs, Abnormal rib morphology, Pro... |
ORPHA:1488 |
Renpenning Syndrome |
|
Abnormal thumb morphology, Sprengel anomaly, Abnormal rib morphology, Clinodactyly of the 5th fin... |
ORPHA:3242 |
Cenani-Lenz Syndrome |
|
Synostosis of joints, Toe syndactyly, Synostosis of carpal bones, Finger syndactyly, Elbow disloc... |
ORPHA:3258 |
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome |
|
Abnormal sternum morphology, Broad ribs, Short ribs, Abnormal rib morphology, Postaxial hand poly... |
ORPHA:2519 |
Antley-Bixler Syndrome |
|
Narrow chest, Camptodactyly of finger, Delayed cranial suture closure, Femoral bowing, Arachnodac... |
ORPHA:83 |
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome |
|
Abnormality of the humeroulnar joint, Abnormal rib morphology |
ORPHA:2234 |
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies |
|
Sprengel anomaly, Abnormal rib morphology |
OMIM:601076 |
Imperforate Oropharynx-Costovertebral Anomalies Syndrome |
|
Arachnodactyly, Clinodactyly of the 5th finger, Missing ribs, Abnormal rib morphology |
ORPHA:2759 |
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome |
|
Sandal gap, Sprengel anomaly, Brachydactyly, Abnormal rib morphology |
ORPHA:2180 |
Cleidocranial Dysplasia |
|
Hypoplastic scapulae, Abnormal pelvic girdle bone morphology, Abnormal epiphysis morphology, Narr... |
ORPHA:1452 |
Mucopolysaccharidosis Type 4 |
|
Pectus carinatum, Abnormal epiphysis morphology, Joint dislocation, Short thorax, Genu valgum, Bo... |
ORPHA:582 |
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome |
|
Abnormal rib morphology |
ORPHA:2772 |
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Narrow chest, Thoracic dysplasia, Irregular epiphyses, Hypoplastic iliac wing, Hypoplastic pelvis... |
OMIM:208500 |
Septopreoptic Holoprosencephaly |
|
Abnormal rib morphology |
ORPHA:280195 |
Laryngotracheoesophageal Cleft Type 4 |
|
Abnormal rib morphology |
ORPHA:93941 |
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
|
Short distal phalanx of finger, Short thumb, Preaxial hand polydactyly, Abnormal thumb morphology... |
ORPHA:1120 |
Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Narrow chest, Cone-shaped epiphysis, Abnormal scapula morphology, Iliac crest serration, Metaphys... |
ORPHA:93317 |
Autosomal Recessive Spondylocostal Dysostosis |
|
Finger syndactyly, Short thorax, Camptodactyly of finger, Rib segmentation abnormalities, Rib fus... |
ORPHA:2311 |
X-Linked Hypophosphatemia |
|
Flattening of the talar dome, Shortening of the talar neck, Rachitic rosary, Abnormal epiphysis m... |
ORPHA:89936 |
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome |
|
Clinodactyly of the 5th finger, Abnormal hip bone morphology, Pectus carinatum, Abnormal rib morp... |
ORPHA:3068 |
Oculocerebrocutaneous Syndrome |
|
Short distal phalanx of finger, Congenital hip dislocation, Finger syndactyly, Missing ribs, Hand... |
ORPHA:1647 |
Cole-Carpenter Syndrome |
|
Bowing of the long bones, Wormian bones, Abnormal rib morphology, Abnormal metaphysis morphology,... |
ORPHA:2050 |
Poland Syndrome |
|
Small hand, Finger syndactyly, Aplasia/Hypoplasia of the sternum, Aplasia/Hypoplasia of the thumb... |
ORPHA:2911 |
Pyknoachondrogenesis |
|
Short iliac bones, Horizontal ribs, Short ribs, Aplastic pubic bone, Short long bone, Short thora... |
ORPHA:3003 |
Campomelia, Cumming Type |
|
Clubbing of toes, Abnormal thorax morphology, Bowing of the long bones, Brachydactyly, Abnormal r... |
ORPHA:1318 |
Holzgreve Syndrome |
|
Hand polydactyly, Abnormal metacarpal morphology, Abnormal rib morphology, Abnormal morphology of... |
ORPHA:2167 |
Trisomy 13 |
|
Narrow chest, Abnormal pelvic girdle bone morphology, Ectrodactyly, Abnormal rib morphology, Post... |
ORPHA:3378 |
Prune Belly Syndrome |
|
Congenital hip dislocation, Pectus excavatum, Abnormal rib morphology |
ORPHA:2970 |
Cartilage-Hair Hypoplasia |
|
Pectus carinatum, Small hand, Abnormal pelvic girdle bone morphology, Abnormal epiphysis morpholo... |
ORPHA:175 |
Otopalatodigital Syndrome Type 2 |
|
Narrow chest, Synostosis of carpal bones, Elbow dislocation, Short thumb, Carpal synostosis, Prea... |
ORPHA:90652 |
Trisomy 1Q |
|
Toe syndactyly, Short thorax, Camptodactyly of finger, Preaxial hand polydactyly, Arachnodactyly,... |
ORPHA:261344 |
Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
|
Radial bowing, Aplasia/Hypoplasia of the pubic bone, Fibular aplasia, Humeroradial synostosis, Ba... |
OMIM:276820 |
Axial Mesodermal Dysplasia Spectrum |
|
Abnormality of the knee, Abnormal pelvic girdle bone morphology, Missing ribs, Abnormal rib morph... |
ORPHA:1834 |
Multiple Pterygium-Malignant Hyperthermia Syndrome |
|
Ulnar deviation of finger, Finger syndactyly, Camptodactyly of finger, Arachnodactyly, Tapered fi... |
ORPHA:2215 |
Familial Osteodysplasia, Anderson Type |
|
Aplastic clavicle, Bifid femur, Elbow dislocation, Abnormal rib morphology, Missing ribs, Aplasia... |
ORPHA:2769 |
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Hypoplastic scapulae, Clinodactyly, Humeroradial synostosis, Arachnodactyly, Radioulnar synostosi... |
ORPHA:95699 |
Gorlin Syndrome |
|
Arachnodactyly, Rib fusion, Brachydactyly, Anterior rib cupping, Abnormal rib morphology, Bifid r... |
ORPHA:377 |
Autosomal Dominant Popliteal Pterygium Syndrome |
|
Popliteal pterygium, Toe syndactyly, Finger syndactyly, Split hand, Abnormal rib morphology |
ORPHA:1300 |
Tetraamelia-Multiple Malformations Syndrome |
|
Missing ribs, Abnormal rib morphology, Aplasia/Hypoplasia involving the pelvis |
ORPHA:3301 |
Aspergillosis |
|
Abnormal long bone morphology, Abnormal rib morphology |
ORPHA:1163 |
Radio-Renal Syndrome |
|
Hypoplasia of the radius, Brachydactyly, Abnormal rib morphology, Short palm, Abnormality of the ... |
ORPHA:3015 |
Mosaic Trisomy 8 |
|
Narrow chest, Camptodactyly of finger, Patellar aplasia, Abnormal rib morphology, Narrow pelvis b... |
ORPHA:96061 |
Schwartz-Jampel Syndrome |
|
Pectus carinatum, Shoulder flexion contracture, Elbow dislocation, Abnormal epiphysis morphology,... |
ORPHA:800 |
Fibrous Dysplasia Of Bone |
|
Abnormal clavicle morphology, Abnormal rib morphology, Abnormal tibia morphology, Abnormal pelvis... |
ORPHA:249 |
Hurler Syndrome |
|
Abnormal epiphysis morphology, Abnormal clavicle morphology, Abnormal diaphysis morphology, Campt... |
ORPHA:93473 |
Alagille Syndrome |
|
Clinodactyly of the 5th finger, Short distal phalanx of finger, Hypoplasia of the ulna, Abnormal ... |
ORPHA:52 |
Vacterl/Vater Association |
|
Aplasia/Hypoplasia of the radius, Finger syndactyly, Abnormal rib morphology, Preaxial hand polyd... |
ORPHA:887 |
Osteogenesis Imperfecta |
|
Thin ribs, Abnormal tibia morphology, Genu valgum, Bowing of the long bones, Diaphyseal undertubu... |
ORPHA:666 |
Myhre Syndrome |
|
Abnormal epiphysis morphology, Abnormal metaphysis morphology, Brachydactyly, Abnormal rib morpho... |
ORPHA:2588 |
Dextrocardia |
|
Congenital hip dislocation, Abnormal rib morphology |
ORPHA:1666 |
Ear-Patella-Short Stature Syndrome |
|
Aplastic clavicle, Abnormal epiphysis morphology, Slender long bone, Elbow dislocation, Camptodac... |
ORPHA:2554 |
Camptodactyly Syndrome, Guadalajara Type 3 |
|
Small hand, Broad femoral neck, Thickened cortex of long bones, Abnormal rib morphology, Short foot |
ORPHA:488434 |
Ulbright-Hodes Syndrome |
|
Thin ribs, Abnormal forearm bone morphology, Fibular aplasia, Humeroradial synostosis, Short hume... |
ORPHA:3404 |
Monosomy 9Q22.3 |
|
Pectus excavatum, Metopic synostosis, Abnormal rib morphology, Polydactyly |
ORPHA:77301 |
Trisomy 18 |
|
Deviation of finger, Camptodactyly of finger, Abnormal hip bone morphology, Abnormal rib morpholo... |
ORPHA:3380 |
Hereditary Acrokeratotic Poikiloderma |
|
Finger syndactyly, Camptodactyly of finger, Abnormal hip bone morphology, Abnormal metacarpal mor... |
ORPHA:2907 |
Simpson-Golabi-Behmel Syndrome |
|
Congenital hip dislocation, Broad thumb, Toe syndactyly, Short toe, Finger syndactyly, Camptodact... |
ORPHA:373 |
Mucopolysaccharidosis Type 3 |
|
Abnormal clavicle morphology, Abnormal rib morphology, Avascular necrosis of the capital femoral ... |
ORPHA:581 |
Smith-Lemli-Opitz Syndrome |
|
Ulnar deviation of finger, Aplasia/Hypoplasia of the radius, Postaxial foot polydactyly, Finger s... |
ORPHA:818 |
Autosomal Recessive Malignant Osteopetrosis |
|
Narrow chest, Abnormal epiphysis morphology, Bowing of the long bones, Abnormal rib morphology, C... |
ORPHA:667 |
Vater/Vacterl Association |
|
Short thumb, Abnormal rib morphology, Preaxial polydactyly, Abnormal sternum morphology, Radiouln... |
OMIM:192350 |
Kindler Epidermolysis Bullosa |
|
Finger syndactyly, Camptodactyly of finger, Short 5th metacarpal, Short 4th metacarpal, Abnormal ... |
ORPHA:2908 |
Monosomy 9P |
|
Abnormality of the tarsal bones, Proximal placement of thumb, Abnormal rib morphology, Postaxial ... |
ORPHA:261112 |
Oculocerebrorenal Syndrome Of Lowe |
|
Abnormal epiphysis morphology, Abnormal rib morphology, Genu valgum, Joint swelling, Arthritis, P... |
ORPHA:534 |
Pagod Syndrome |
|
Abnormal clavicle morphology, Abnormal rib morphology |
ORPHA:991 |
Charge Syndrome |
|
Bifid femur, Abnormal tibia morphology, Polydactyly, Brachydactyly, Abnormal rib morphology, Clin... |
ORPHA:138 |
Alagille Syndrome 1 |
|
Short distal phalanx of finger, Hypoplasia of the ulna, Abnormal rib morphology |
OMIM:118450 |
Townes-Brocks Syndrome |
|
Toe clinodactyly, Ulnar deviation of finger, Broad thumb, Toe syndactyly, Preaxial hand polydacty... |
ORPHA:857 |
Charge Syndrome |
|
Bifid femur, Short thumb, Abnormal rib morphology, Down-sloping shoulders, Hand polydactyly, Radi... |
OMIM:214800 |
Fraser Syndrome |
|
Toe syndactyly, Finger syndactyly, Wide pubic symphysis, Cutaneous syndactyly, Abnormal rib morph... |
ORPHA:2052 |