Cervical Rib |
|
Cervical ribs |
OMIM:117900 |
Chondrocalcinosis Due To Apatite Crystal Deposition |
|
Osteoarthritis of the small joints of the hand, Costal cartilage calcification, Chondrocalcinosis... |
OMIM:118610 |
Sacral Agenesis With Vertebral Anomalies |
|
Abnormal vertebral morphology, Absence of the sacrum |
OMIM:615709 |
Neurogenic Thoracic Outlet Syndrome |
|
Abnormal rib morphology |
ORPHA:100073 |
Familial Scheuermann Disease |
|
Kyphosis, Abnormal form of the vertebral bodies |
ORPHA:3135 |
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly |
|
Narrow chest, Acetabular spurs, Short ribs, Trident acetabulum, Brachydactyly, Postaxial hand pol... |
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 |
|
Clinodactyly of the 5th finger, Pectus carinatum, Radioulnar synostosis, Abnormal rib morphology,... |
ORPHA:3268 |
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome |
|
Abnormal rib morphology |
ORPHA:2435 |
Spondylometaphyseal Dysplasia, Type A4 |
|
Sclerotic humeral metaphysis, Metaphyseal irregularity, Costochondral joint sclerosis, Broad isch... |
OMIM:609052 |
Kyphomelic Dysplasia |
|
Narrow chest, Undulate ribs, Anterior rib cupping, Missing ribs, Bowing of the long bones, Short ... |
ORPHA:1801 |
Acrodysplasia Scoliosis |
|
Vertebral segmentation defect, Brachydactyly, Spina bifida occulta, Scoliosis |
ORPHA:2956 |
Thoracolaryngopelvic Dysplasia |
|
Irregular chondrocostal junctions, Short ribs, Metaphyseal widening, Bell-shaped thorax, Narrow p... |
OMIM:187760 |
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly |
|
Narrow chest, Lateral clavicle hook, Postaxial polydactyly, Brachydactyly, Bell-shaped thorax, Ho... |
OMIM:615633 |
Jeune Syndrome |
|
Narrow chest, Abnormal clavicle morphology, Abnormal sternum morphology, Cone-shaped epiphysis, B... |
ORPHA:474 |
Mesomelic Dysplasia, Kantaputra Type |
|
Clinodactyly of the 5th finger, Camptodactyly of finger, Abnormality of the humerus, Abnormality ... |
ORPHA:1836 |
Thin Ribs-Tubular Bones-Dysmorphism Syndrome |
|
Abnormal rib morphology, Slender long bone, Abnormal pelvic girdle bone morphology |
ORPHA:1506 |
Spondylometaphyseal Dysplasia, A4 Type |
|
Coxa vara, Short palm, Flared, irregular rib ends |
ORPHA:168555 |
Congenital Pseudoarthrosis Of The Clavicle |
|
Congenital pseudoarthrosis of the clavicle, Cervical ribs, Osteoarthritis |
ORPHA:66630 |
Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Coxa vara, Short metacarpal, Osteoarthritis, Synostosis of carpal bones, Upper limb undergrowth, ... |
ORPHA:93351 |
Metatropic Dysplasia |
|
Enlarged joints, Halberd-shaped pelvis, Cone-shaped epiphysis, Hyperplasia of the femoral trochan... |
OMIM:156530 |
Acrocapitofemoral Dysplasia |
|
Cone-shaped epiphyses of the phalanges of the hand, Pectus excavatum, Hypoplasia of the radius, C... |
OMIM:607778 |
Craniodiaphyseal Dysplasia |
|
Abnormal rib morphology, Diaphyseal thickening |
ORPHA:1513 |
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies |
|
Superior rib anomalies |
OMIM:307500 |
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies |
|
Abnormal rib morphology, Hypoplastic distal segments of scapulae, Pectus excavatum |
OMIM:602196 |
Thanatophoric Dysplasia, Type Ii |
|
Narrow chest, Wide-cupped costochondral junctions, Small abnormally formed scapulae, Metaphyseal ... |
OMIM:187601 |
Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Coxa vara, Metaphyseal dysplasia, Osteoarthritis, Broad femoral neck, Upper limb undergrowth, Enl... |
OMIM:271650 |
Endosteal Hyperostosis, Worth Type |
|
Abnormal rib morphology, Clavicular sclerosis, Diaphyseal thickening |
ORPHA:2790 |
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type |
|
Bowing of the legs, Pectus excavatum, Metaphyseal spurs, Dysplastic iliac wing, Narrow greater sc... |
OMIM:608728 |
Heart Defects-Limb Shortening Syndrome |
|
Abnormal rib morphology, Abnormal metaphysis morphology, Narrow chest |
ORPHA:1354 |
Hyperparathyroidism, Transient Neonatal |
|
Narrow chest, Femoral bowing, Thin ribs, Short ribs |
OMIM:618188 |
Metaphyseal Chondrodysplasia, Schmid Type |
|
Femoral bowing, Short long bone, Metaphyseal cupping of proximal phalanges, Metaphyseal irregular... |
ORPHA:174 |
Axial Spondylometaphyseal Dysplasia |
|
Upper limb undergrowth, Flared, irregular rib ends, Thoracic hypoplasia, Narrow greater sciatic n... |
ORPHA:168549 |
Spondylocostal Dysostosis 4, Autosomal Recessive |
|
Rib fusion, Abnormal rib morphology, Missing ribs, Short thorax, Block vertebrae, Vertebral fusion |
OMIM:613686 |
Poland Syndrome |
|
Sprengel anomaly, Rib fusion, Unilateral oligodactyly, Short ribs, Unilateral brachydactyly, Synd... |
OMIM:173800 |
Grant Syndrome |
|
Sprengel anomaly, Narrow chest, Joint dislocation, Abnormality of the glenoid fossa, Wormian bone... |
ORPHA:2097 |
Cerebral-Cerebellar-Coloboma Syndrome, X-Linked |
|
Abnormal rib morphology |
OMIM:300864 |
Cortical Defects, Wormian Bones, And Dentinogenesis Imperfecta |
|
Asymmetry of the thorax, Thin ribs, Epiphyseal streaking, Clinodactyly of the 4th toe, Wormian bo... |
OMIM:604922 |
Spondylocostal Dysostosis 3, Autosomal Recessive |
|
Rib fusion, Slender finger, Contracture of the proximal interphalangeal joint of the 2nd finger |
OMIM:609813 |
Holt-Oram Syndrome |
|
Sprengel anomaly, Pectus excavatum, Abnormal clavicle morphology, Absent thumb, Down-sloping shou... |
ORPHA:392 |
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness |
|
Cone-shaped epiphyses of the phalanges of the hand, Delayed ossification of carpal bones, Narrow ... |
OMIM:609616 |
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe |
|
Supraumbilical raphe, Bifid sternum |
OMIM:140850 |
Metatropic Dysplasia |
|
Narrow chest, Halberd-shaped pelvis, Clinodactyly of the 5th finger, Camptodactyly of finger, Abn... |
ORPHA:2635 |
Thoracic Outlet Syndrome |
|
Abnormal rib morphology |
ORPHA:97330 |
Sprengel Deformity |
|
Sprengel anomaly, Rib segmentation abnormalities |
OMIM:184400 |
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type |
|
Narrow chest, Metaphyseal cupping, Thin ribs, Short ribs, Hypoplastic ilia, Hypoplastic pubic bon... |
OMIM:151210 |
Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Coxa vara, Tibial bowing, Metaphyseal cupping, Radial bowing, Flared iliac wing, Femoral bowing, ... |
OMIM:602111 |
Spondylocostal Dysostosis 5 |
|
Posterior rib fusion, Pectus carinatum, Missing ribs, Supernumerary ribs, Vertebral fusion |
OMIM:122600 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3 |
|
Metaphyseal irregularity, Dislocated radial head, Knee dislocation, Thin ribs, Short femoral neck... |
OMIM:618395 |
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Narrow chest, Abnormal clavicle morphology, Abnormal rib morphology, Abnormal epiphysis morpholog... |
ORPHA:93267 |
Osteogenesis Imperfecta, Type Ix |
|
Pectus excavatum, Wormian bones, Pectus carinatum, Short lower limbs, Beaded ribs |
OMIM:259440 |
Microcephaly, Short Stature, And Limb Abnormalities |
|
Dislocated radial head, Clinodactyly of the 5th finger, Hypoplasia of the radius, Brachydactyly, ... |
OMIM:617604 |
Dyggve-Melchior-Clausen Disease |
|
Broad carpal bones, Abnormality of the ankles, Abnormal femoral head morphology, Hypoplasia of th... |
ORPHA:239 |
10Q22.3Q23.3 Microduplication Syndrome |
|
Abnormal rib morphology, Abnormal clavicle morphology |
ORPHA:276422 |
Metaphyseal Dysostosis, Mental Retardation, And Conductive Deafness |
|
Metaphyseal irregularity, Broad phalanx, Metaphyseal dysplasia, Metaphyseal cupping, Coxa vara, I... |
OMIM:250420 |
Spondylocostal Dysostosis 2, Autosomal Recessive |
|
Rib fusion |
OMIM:608681 |
Juberg-Hayward Syndrome |
|
Abnormality of finger, Hypoplasia of the radius, Radioulnar synostosis, Hammertoe, Abnormal metac... |
ORPHA:2319 |
Diastrophic Dysplasia |
|
Abnormal clavicle morphology, Joint dislocation, Camptodactyly of finger, Symphalangism affecting... |
ORPHA:628 |
Achondrogenesis, Type Ii |
|
Short ribs, Barrel-shaped chest, Short tubular bones of the hand, Hypoplastic iliac wing, Horizon... |
OMIM:200610 |
Fibrochondrogenesis 1 |
|
Dumbbell-shaped long bone, Posterior rib cupping, Thoracic hypoplasia, Short long bone, Widely pa... |
OMIM:228520 |
Autosomal Dominant Spondylocostal Dysostosis |
|
Abnormal rib morphology, Short thorax, Posterior rib fusion, Missing ribs |
ORPHA:1797 |
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Narrow chest, Postaxial polydactyly, Hypoplasia of the radius, Hypoplastic ilia, Short ribs, Brac... |
OMIM:617895 |
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy |
|
Metaphyseal irregularity, Tibial bowing, Metaphyseal cupping, Coxa vara, Narrow greater sciatic n... |
OMIM:608940 |
Microcephalic Primordial Dwarfism, Toriello Type |
|
Abnormal rib morphology, Abnormal epiphysis morphology, Brachydactyly |
ORPHA:2643 |
Femoral-Facial Syndrome |
|
Sprengel anomaly, Rib fusion, Coxa vara, Aplasia/Hypoplasia of the tibia, Short femur, Radioulnar... |
ORPHA:1988 |
Hypophosphatasia |
|
Narrow chest, Craniosynostosis, Abnormal rib morphology, Bowing of the long bones, Abnormal metap... |
ORPHA:436 |
Isolated Klippel-Feil Syndrome |
|
Cervical C2/C3 vertebral fusion, Sprengel anomaly, Abnormal vertebral segmentation and fusion, Ab... |
ORPHA:2345 |
Mosaic Trisomy 14 |
|
Abnormal rib morphology, Camptodactyly of finger, Narrow chest |
ORPHA:1703 |
Osteogenesis Imperfecta, Type Ii |
|
Tibial bowing, Beaded ribs, Thin ribs, Wormian bones, Bell-shaped thorax, Thoracic hypoplasia, Br... |
OMIM:166210 |
Cat-Eye Syndrome |
|
Abnormal rib morphology, Hip dysplasia |
ORPHA:195 |
Spondylometaphyseal Dysplasia, Algerian Type |
|
Coxa vara, Hypoplasia of proximal radius, Metaphyseal dysplasia, Anterior rib cupping, Short tubu... |
OMIM:184253 |
White Forelock With Malformations |
|
Abnormal rib morphology, Sprengel anomaly, Clinodactyly of the 5th finger, Finger syndactyly |
ORPHA:2475 |
Becker Nevus Syndrome |
|
Rib fusion, Pectus excavatum, Abnormality of tibia morphology, Pectus carinatum, Supernumerary ribs |
ORPHA:64755 |
Fibrochondrogenesis |
|
Narrow chest, Short ribs, Camptodactyly of finger, Brachydactyly, Bell-shaped thorax, Abnormal ri... |
ORPHA:2021 |
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome |
|
Aplasia/Hypoplasia of fingers, Clinodactyly of the 5th finger, Broad hallux phalanx, Aplasia/Hypo... |
ORPHA:3082 |
Achondrogenesis Type 1B |
|
Abnormal rib morphology, Short thorax, Narrow chest, Short foot |
ORPHA:93298 |
Microcephaly-Cervical Spine Fusion Anomalies Syndrome |
|
Pectus excavatum, Abnormal clavicle morphology, Abnormal hip bone morphology, Abnormal rib morpho... |
ORPHA:2522 |
Melnick-Needles Syndrome |
|
Short distal phalanx of finger, Narrow chest, Cone-shaped epiphyses of the phalanges of the hand,... |
ORPHA:2484 |
Lethal Congenital Contracture Syndrome Type 1 |
|
Abnormal rib morphology, Abnormality of the elbow, Slender long bone, Abnormal hip bone morphology |
ORPHA:1486 |
Craniosynostosis, Herrmann-Opitz Type |
|
Craniosynostosis, Brachydactyly, Abnormal rib morphology, Split hand, Finger syndactyly |
ORPHA:2145 |
Mucolipidosis Iii Alpha/Beta |
|
Irregular carpal bones, Soft tissue swelling of interphalangeal joints, Craniosynostosis, Short r... |
OMIM:252600 |
Kenny-Caffey Syndrome, Type 1 |
|
Thin ribs, Long clavicles, Small hand, Thin clavicles, Slender long bone, Short foot, Delayed clo... |
OMIM:244460 |
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2 |
|
Abnormal rib morphology |
ORPHA:2578 |
Achondrogenesis, Type Ia |
|
Narrow chest, Bowing of the legs, Short clavicles, Short ribs, Hypoplasia of the radius, Barrel-s... |
OMIM:200600 |
Rhizomelic Dysplasia, Scoliosis, And Retinitis Pigmentosa |
|
Short clavicles, Short ribs, Short humerus, Short femoral neck, Broad ribs, Prominent deltoid tub... |
OMIM:610319 |
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome |
|
Tibial bowing, Radial bowing, Abnormal rib morphology, Abnormality of fibula morphology, Bowing o... |
ORPHA:3035 |
Kyphomelic Dysplasia |
|
Tibial bowing, Radial bowing, Lateral clavicle hook, Short femur, Undulate ribs, Femoral bowing, ... |
OMIM:211350 |
Klippel-Feil Syndrome 1, Autosomal Dominant |
|
Cervical C2/C3 vertebral fusion, Sprengel anomaly, Abnormal vertebral segmentation and fusion, Ab... |
OMIM:118100 |
Eiken Syndrome |
|
Delayed epiphyseal ossification, Long hallux, Delayed tarsal ossification, Delayed ossification o... |
OMIM:600002 |
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Acetabular spurs, Absent tibia, Metaphyseal spurs, Lateral clavicle hook, Short ribs, Postaxial p... |
OMIM:613091 |
Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Cone-shaped epiphyses of the phalanges of the hand, 11 pairs of ribs, Short long bone, Metaphysea... |
OMIM:250220 |
Ellis-Van Creveld Syndrome |
|
Narrow chest, Acetabular spurs, Short ribs, Cone-shaped epiphyses of phalanges 2 to 5, Pectus car... |
OMIM:225500 |
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome |
|
Abnormal sternum morphology, Short ribs, Postaxial hand polydactyly, Abnormal rib morphology, Bro... |
ORPHA:2519 |
Cenani-Lenz Syndrome |
|
Finger syndactyly, Hypoplasia of the radius, Synostosis of carpal bones, Short thumb, Radioulnar ... |
ORPHA:3258 |
Renpenning Syndrome |
|
Sprengel anomaly, Clinodactyly of the 5th finger, Pectus excavatum, Abnormal rib morphology, Abno... |
ORPHA:3242 |
Cooper-Jabs Syndrome |
|
Abnormal hip bone morphology, Camptodactyly of finger, Abnormal rib morphology, Missing ribs, Pro... |
ORPHA:1488 |
Phaver Syndrome |
|
Broad hallux phalanx, Camptodactyly of finger, Ulnar deviation of finger, Abnormal rib morphology... |
ORPHA:2876 |
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome |
|
Abnormality of the humeroulnar joint, Abnormal rib morphology |
ORPHA:2234 |
Antley-Bixler Syndrome |
|
Narrow chest, Elbow ankylosis, Craniosynostosis, Arachnodactyly, Femoral bowing, Delayed cranial ... |
ORPHA:83 |
Imperforate Oropharynx-Costovertebral Anomalies Syndrome |
|
Arachnodactyly, Clinodactyly of the 5th finger, Missing ribs, Abnormal rib morphology |
ORPHA:2759 |
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome |
|
Abnormal rib morphology, Sprengel anomaly, Brachydactyly, Sandal gap |
ORPHA:2180 |
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies |
|
Abnormal rib morphology, Sprengel anomaly |
OMIM:601076 |
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome |
|
Abnormal rib morphology |
ORPHA:2772 |
Microcephaly-Micromelia Syndrome |
|
Forearm undergrowth, Narrow chest, Craniosynostosis, Short tibia, Abnormal rib morphology, Oligod... |
OMIM:251230 |
Cleidocranial Dysplasia |
|
Narrow chest, Coxa vara, Short clavicles, Clinodactyly of the 5th finger, Down-sloping shoulders,... |
ORPHA:1452 |
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Narrow chest, Metaphyseal irregularity, Cone-shaped epiphyses of the phalanges of the hand, Later... |
OMIM:208500 |
Mucopolysaccharidosis Type 4 |
|
Joint dislocation, Pectus carinatum, Abnormal rib morphology, Genu valgum, Abnormal epiphysis mor... |
ORPHA:582 |
Spondyloepimetaphyseal Dysplasia, X-Linked |
|
Broad phalanx, Cone-shaped epiphyses of the phalanges of the hand, Pectus carinatum, Posterior ri... |
OMIM:300106 |
Van Den Ende-Gupta Syndrome |
|
Pectus excavatum, Craniosynostosis, Femoral bowing, Tapered finger, Glenoid fossa hypoplasia, Lon... |
OMIM:600920 |
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, Abnormal rib morphology, Abnormal thumb morphology, ... |
ORPHA:1120 |
Congenital Disorder Of Glycosylation, Type Iig |
|
Abnormal rib morphology, Small hand, Short foot, Camptodactyly |
OMIM:611209 |
Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Narrow chest, Abnormal scapula morphology, Cone-shaped epiphysis, Iliac crest serration, Abnormal... |
ORPHA:93317 |
Autosomal Recessive Spondylocostal Dysostosis |
|
Rib fusion, Camptodactyly of finger, Abnormal rib morphology, Short thorax, Rib segmentation abno... |
ORPHA:2311 |
X-Linked Hypophosphatemia |
|
Bowing of the legs, Trapezoidal distal femoral condyles, Flared iliac wing, Craniosynostosis, Upp... |
ORPHA:89936 |
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome |
|
Abnormal rib morphology, Clinodactyly of the 5th finger, Pectus carinatum, Abnormal hip bone morp... |
ORPHA:3068 |
Oculocerebrocutaneous Syndrome |
|
Short distal phalanx of finger, Congenital hip dislocation, Abnormal rib morphology, Missing ribs... |
ORPHA:1647 |
Pyknoachondrogenesis |
|
Enlarged thorax, Abnormal iliac wing morphology, Short ribs, Hypoplastic ischia, Aplastic pubic b... |
ORPHA:3003 |
Poland Syndrome |
|
Cone-shaped epiphysis, Abnormality of the humerus, Pectus carinatum, Sprengel anomaly, Short ribs... |
ORPHA:2911 |
Cole-Carpenter Syndrome |
|
Wormian bones, Abnormal rib morphology, Bowing of the long bones, Abnormal metaphysis morphology,... |
ORPHA:2050 |
Holzgreve Syndrome |
|
Abnormal rib morphology, Abnormal metacarpal morphology, Abnormal morphology of ulna, Hand polyda... |
ORPHA:2167 |
Campomelia, Cumming Type |
|
Brachydactyly, Abnormal thorax morphology, Abnormal rib morphology, Bowing of the long bones, Clu... |
ORPHA:1318 |
Trisomy 13 |
|
Narrow chest, Ectrodactyly, Postaxial hand polydactyly, Abnormal rib morphology, Abnormal pelvic ... |
ORPHA:3378 |
Otopalatodigital Syndrome Type 2 |
|
Narrow chest, Carpal synostosis, Flared iliac wing, Abnormal vertebral segmentation and fusion, P... |
ORPHA:90652 |
Prune Belly Syndrome |
|
Abnormal rib morphology, Pectus excavatum, Congenital hip dislocation |
ORPHA:2970 |
Cartilage-Hair Hypoplasia |
|
Narrow chest, Tibial bowing, Metaphyseal dysplasia, Metaphyseal chondrodysplasia, Abnormal hip bo... |
ORPHA:175 |
Trisomy 1Q |
|
Arachnodactyly, Camptodactyly of finger, Abnormal rib morphology, Short thorax, Preaxial hand pol... |
ORPHA:261344 |
Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
|
Prominent sternum, Elbow ankylosis, Hypoplasia of the radius, Femoral bowing, Barrel-shaped chest... |
OMIM:276820 |
Axial Mesodermal Dysplasia Spectrum |
|
Abnormal rib morphology, Abnormality of the knee, Missing ribs, Abnormal pelvic girdle bone morph... |
ORPHA:1834 |
Multiple Pterygium-Malignant Hyperthermia Syndrome |
|
Pectus excavatum, Arachnodactyly, Prominent metopic ridge, Camptodactyly of finger, Tapered finge... |
ORPHA:2215 |
Familial Osteodysplasia, Anderson Type |
|
Clinodactyly of the 5th finger, Aplastic clavicle, Aplasia/hypoplasia of the femur, Abnormal rib ... |
ORPHA:2769 |
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Elbow ankylosis, Craniosynostosis, Femoral bowing, Radioulnar synostosis, Bowing of the long bone... |
ORPHA:95699 |
Autosomal Dominant Popliteal Pterygium Syndrome |
|
Popliteal pterygium, Abnormal rib morphology, Split hand, Finger syndactyly, Toe syndactyly |
ORPHA:1300 |
Ifap Syndrome 1, With Or Without Bresheck Syndrome |
|
Postaxial hand polydactyly, Hip dislocation, Unilateral chest hypoplasia, Abnormal rib morphology |
OMIM:308205 |
Tetraamelia-Multiple Malformations Syndrome |
|
Abnormal rib morphology, Missing ribs, Aplasia/Hypoplasia involving the pelvis |
ORPHA:3301 |
Radio-Renal Syndrome |
|
Hypoplasia of the radius, Brachydactyly, Abnormal rib morphology, Abnormality of the elbow, Short... |
ORPHA:3015 |
Mosaic Trisomy 8 |
|
Narrow chest, Clinodactyly of the 5th finger, Camptodactyly of finger, Abnormal rib morphology, N... |
ORPHA:96061 |
Aspergillosis |
|
Abnormal rib morphology, Abnormal long bone morphology |
ORPHA:1163 |
Schwartz-Jampel Syndrome |
|
Sprengel anomaly, Coxa vara, Pectus excavatum, Hip dysplasia, Wormian bones, Pectus carinatum, Pr... |
ORPHA:800 |
Hurler Syndrome |
|
Abnormal clavicle morphology, Camptodactyly of finger, Abnormal rib morphology, Narrow pelvis bon... |
ORPHA:93473 |
Fibrous Dysplasia Of Bone |
|
Abnormality of femur morphology, Coxa vara, Abnormal clavicle morphology, Abnormal morphology of ... |
ORPHA:249 |
Alagille Syndrome |
|
Hypoplasia of the ulna, Short distal phalanx of finger, Clinodactyly of the 5th finger, Abnormal ... |
ORPHA:52 |
Vacterl/Vater Association |
|
Aplasia/Hypoplasia of the radius, Finger syndactyly, Preaxial hand polydactyly, Abnormal rib morp... |
ORPHA:887 |
Osteogenesis Imperfecta |
|
Abnormality of femur morphology, Pectus excavatum, Femoral bowing, Pectus carinatum, Genu valgum,... |
ORPHA:666 |
Camptodactyly Syndrome, Guadalajara Type 3 |
|
Small hand, Broad femoral neck, Abnormal rib morphology, Short foot, Thickened cortex of long bones |
ORPHA:488434 |
Myhre Syndrome |
|
Large iliac wing, Abnormality of the pubic bone, Brachydactyly, Abnormal rib morphology, Abnormal... |
ORPHA:2588 |
Dextrocardia |
|
Abnormal rib morphology, Congenital hip dislocation |
ORPHA:1666 |
Ear-Patella-Short Stature Syndrome |
|
Clinodactyly of the 5th finger, Craniosynostosis, Camptodactyly of finger, Slender long bone, Apl... |
ORPHA:2554 |
Ulbright-Hodes Syndrome |
|
Aplasia/Hypoplasia of the ulna, Short sternum, Short metacarpal, Thin ribs, Short ribs, Hypoplasi... |
ORPHA:3404 |
Trisomy 18 |
|
Abnormal hip bone morphology, Camptodactyly of finger, Deviation of finger, Postaxial hand polyda... |
ORPHA:3380 |
Monosomy 9Q22.3 |
|
Abnormal rib morphology, Metopic synostosis, Pectus excavatum, Polydactyly |
ORPHA:77301 |
Hereditary Acrokeratotic Poikiloderma |
|
Abnormal hip bone morphology, Camptodactyly of finger, Abnormal rib morphology, Abnormal metacarp... |
ORPHA:2907 |
Simpson-Golabi-Behmel Syndrome |
|
Short toe, Clinodactyly of the 5th finger, Short 2nd finger, Pectus excavatum, Camptodactyly of f... |
ORPHA:373 |
Autosomal Recessive Malignant Osteopetrosis |
|
Narrow chest, Craniosynostosis, Abnormal rib morphology, Abnormal epiphysis morphology, Bowing of... |
ORPHA:667 |
Mucopolysaccharidosis Type 3 |
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Abnormal clavicle morphology, Avascular necrosis of the capital femoral epiphysis, Abnormal rib m... |
ORPHA:581 |
Smith-Lemli-Opitz Syndrome |
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2-3 toe syndactyly, Split hand, Brachydactyly, Ulnar deviation of finger, Abnormal rib morphology... |
ORPHA:818 |
Kindler Epidermolysis Bullosa |
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Camptodactyly of finger, Abnormal rib morphology, Short 4th metacarpal, Short 5th metacarpal, Fin... |
ORPHA:2908 |
Vater/Vacterl Association |
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Abnormal sternum morphology, Hypoplasia of the radius, Preaxial polydactyly, Syndactyly, Short th... |
OMIM:192350 |
Pagod Syndrome |
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Abnormal rib morphology, Abnormal clavicle morphology |
ORPHA:991 |
Monosomy 9P |
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Postaxial hand polydactyly, Abnormality of the tarsal bones, Proximal placement of thumb, Abnorma... |
ORPHA:261112 |
Oculocerebrorenal Syndrome Of Lowe |
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Joint swelling, Arthritis, Abnormal rib morphology, Genu valgum, Abnormal epiphysis morphology, A... |
ORPHA:534 |
Townes-Brocks Syndrome |
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Clinodactyly of the 5th finger, Toe clinodactyly, Partial duplication of thumb phalanx, Broad hal... |
ORPHA:857 |
Charge Syndrome |
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Clinodactyly of the 5th finger, Brachydactyly, Abnormality of tibia morphology, Abnormal rib morp... |
ORPHA:138 |
Alagille Syndrome 1 |
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Hypoplasia of the ulna, Short distal phalanx of finger, Abnormal rib morphology |
OMIM:118450 |
Charge Syndrome |
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Absent tibia, Hand polydactyly, Absent radius, Down-sloping shoulders, Abnormal rib morphology, H... |
OMIM:214800 |