Cervical Rib |
|
Cervical ribs |
OMIM:117900 |
Neurogenic Thoracic Outlet Syndrome |
|
Abnormal rib morphology |
ORPHA:100073 |
Spondylocostal Dysostosis 3, Autosomal Recessive |
|
Contracture of the proximal interphalangeal joint of the 2nd finger, Rib fusion, Slender finger |
OMIM:609813 |
Thoracomelic Dysplasia |
|
Bell-shaped thorax, Short ribs |
OMIM:273740 |
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly |
|
Lateral clavicle hook, Postaxial hand polydactyly, Postaxial foot polydactyly, Trident acetabulum... |
OMIM:617405 |
Thoracic Dysostosis, Isolated |
|
Pectus excavatum, Short ribs, Bell-shaped thorax |
OMIM:187750 |
Poland Syndrome |
|
Syndactyly, Unilateral oligodactyly, Rib fusion, Unilateral brachydactyly, Short ribs, Sprengel a... |
OMIM:173800 |
Spondylocostal Dysostosis 2, Autosomal Recessive |
|
Rib fusion |
OMIM:608681 |
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome |
|
Abnormal rib morphology |
ORPHA:2435 |
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome |
|
Finger syndactyly, Abnormal rib morphology, Pectus carinatum, Radioulnar synostosis, Clinodactyly... |
ORPHA:3268 |
Spondylocostal Dysostosis 5 |
|
Pectus carinatum, Posterior rib fusion, Supernumerary ribs, Missing ribs |
OMIM:122600 |
Spondylometaphyseal Dysplasia, Type A4 |
|
Brachydactyly, Coxa valga, Metaphyseal sclerosis, Enlargement of the costochondral junction, Meta... |
OMIM:609052 |
Becker Nevus Syndrome |
|
Pectus excavatum, Abnormal tibia morphology, Rib fusion, Pectus carinatum, Supernumerary ribs |
ORPHA:64755 |
Hypersulfaturia |
|
Costochondral pain |
OMIM:620372 |
Femoral-Facial Syndrome |
|
Short femur, Rib fusion, Abnormal rib morphology, Coxa vara, Abnormal fibula morphology, Abnormal... |
ORPHA:1988 |
Thoracolaryngopelvic Dysplasia |
|
Metaphyseal widening, Irregular chondrocostal junctions, Bell-shaped thorax, Narrow pelvis bone, ... |
OMIM:187760 |
Autosomal Dominant Spondylocostal Dysostosis |
|
Short thorax, Posterior rib fusion, Abnormal rib morphology, Missing ribs |
ORPHA:1797 |
Kyphomelic Dysplasia |
|
Bowing of the long bones, Anterior rib cupping, Missing ribs, Lateral clavicle hook, Short thorax... |
ORPHA:1801 |
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly |
|
Postaxial polydactyly, Lateral clavicle hook, Bell-shaped thorax, Short long bone, Thoracic dyspl... |
OMIM:615633 |
Thoracopelvic Dysostosis |
|
Short ribs |
OMIM:187770 |
Thin Ribs-Tubular Bones-Dysmorphism Syndrome |
|
Slender long bone, Abnormal pelvic girdle bone morphology, Abnormal rib morphology |
ORPHA:1506 |
Jeune Syndrome |
|
Abnormal clavicle morphology, Toe syndactyly, Postaxial hand polydactyly, Short thorax, Abnormal ... |
ORPHA:474 |
Spondylometaphyseal Dysplasia, A4 Type |
|
Flared, irregular rib ends, Coxa vara, Short palm |
ORPHA:168555 |
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies |
|
Superior rib anomalies |
OMIM:307500 |
Spondylocostal Dysostosis 1, Autosomal Recessive |
|
Rib fusion |
OMIM:277300 |
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 |
Fibrochondrogenesis 2 |
|
Hypoplastic ischia, Hypoplastic ilia, Cupped ribs, Metaphyseal widening, Hypoplastic pubic bone, ... |
OMIM:614524 |
Heart Defects-Limb Shortening Syndrome |
|
Abnormal metaphysis morphology, Abnormal rib morphology, Narrow chest |
ORPHA:1354 |
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe |
|
Bifid sternum, Supraumbilical raphe |
OMIM:140850 |
Endosteal Hyperostosis, Worth Type |
|
Clavicular sclerosis, Abnormal rib morphology, Diaphyseal thickening |
ORPHA:2790 |
Mesomelic Dysplasia, Kantaputra Type |
|
Camptodactyly of finger, Tarsal synostosis, Abnormality of the humerus, Abnormal rib morphology, ... |
ORPHA:1836 |
Congenital Pseudoarthrosis Of The Clavicle |
|
Congenital pseudoarthrosis of the clavicle, Cervical ribs |
ORPHA:66630 |
Thoracic Outlet Syndrome |
|
Abnormal rib morphology |
ORPHA:97330 |
Autosomal Recessive Spondylocostal Dysostosis |
|
Rib segmentation abnormalities, Finger syndactyly, Camptodactyly of finger, Short thorax, Rib fus... |
ORPHA:2311 |
Metatropic Dysplasia |
|
Abnormal metaphyseal vascular invasion, Long coccyx, Halberd-shaped pelvis, Narrow chest, Flaring... |
OMIM:156530 |
Metaphyseal Chondrodysplasia, Schmid Type |
|
Broad proximal phalanges of the hand, Bowing of the legs, Short tubular bones of the hand, Proxim... |
ORPHA:174 |
Spondylocostal Dysostosis 4, Autosomal Recessive |
|
Missing ribs, Pectus excavatum, Short thorax, Rib fusion, Bell-shaped thorax |
OMIM:613686 |
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type |
|
Dysplastic iliac wing, Metaphyseal spurs, Bowing of the legs, Pectus excavatum, Metaphyseal widen... |
OMIM:608728 |
Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Short metacarpal, Short metatarsal, Abnormal rib morphology, Abnormal carpal morphology, Coxa var... |
ORPHA:93351 |
Congenital Disorder Of Glycosylation, Type Iig |
|
Thoracic scoliosis, Squared iliac bones, Rib fusion, Posterior rib gap, Small hand, Ulnar deviati... |
OMIM:611209 |
Sprengel Deformity |
|
Rib segmentation abnormalities, Sprengel anomaly |
OMIM:184400 |
Axial Spondylometaphyseal Dysplasia |
|
Thoracic scoliosis, Proximal femoral metaphyseal irregularity, Deformed rib cage, Coxa vara, Narr... |
ORPHA:168549 |
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 |
Becker Nevus Syndrome |
|
Pectus excavatum, Cervical ribs |
OMIM:604919 |
Cerebrofaciothoracic Dysplasia |
|
Sprengel anomaly, Rib fusion, Narrow chest, Bifid ribs |
ORPHA:1394 |
Holt-Oram Syndrome |
|
Abnormal clavicle morphology, Finger syndactyly, Down-sloping shoulders, Absent thumb, Pectus exc... |
ORPHA:392 |
Metatropic Dysplasia |
|
Camptodactyly of finger, Abnormal rib morphology, Long thorax, Halberd-shaped pelvis, Narrow ches... |
ORPHA:2635 |
10Q22.3Q23.3 Microduplication Syndrome |
|
Abnormal clavicle morphology, Abnormal rib morphology |
ORPHA:276422 |
Grant Syndrome |
|
Bowing of the long bones, Abnormal rib morphology, Abnormal pelvic girdle bone morphology, Narrow... |
ORPHA:2097 |
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
|
Rib fusion, Short ribs, Missing ribs, Thin ribs |
OMIM:271520 |
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Abnormal clavicle morphology, Bowing of the long bones, Proximal placement of thumb, Abnormal rib... |
ORPHA:93267 |
Microcephalic Primordial Dwarfism, Toriello Type |
|
Abnormal rib morphology, Abnormal epiphysis morphology, Brachydactyly |
ORPHA:2643 |
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness |
|
Metaphyseal dysplasia, Brachydactyly, Irregular iliac crest, Cupped ribs, Metaphyseal widening, F... |
OMIM:250420 |
Pontine Tegmental Cap Dysplasia |
|
Rib fusion |
OMIM:614688 |
Osteogenesis Imperfecta, Type Ix |
|
Pectus excavatum, Pectus carinatum, Short lower limbs, Beaded ribs |
OMIM:259440 |
Kbg Syndrome |
|
Syndactyly, Rib fusion, Cutaneous syndactyly, Cervical ribs, Thoracic kyphosis, Radial deviation ... |
OMIM:148050 |
Robinow Syndrome, Autosomal Recessive 1 |
|
Short palm, Duplication of the distal phalanx of hand, Dislocated radial head, Radial bowing, Rib... |
OMIM:268310 |
Cat-Eye Syndrome |
|
Hip dysplasia, Abnormal rib morphology |
ORPHA:195 |
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy |
|
Short metacarpal, Cupped ribs, Metaphyseal widening, Coxa vara, Tibial bowing, Femoral bowing, Na... |
OMIM:608940 |
Proximal 16P11.2 Microdeletion Syndrome |
|
Hand polydactyly, Rib fusion |
ORPHA:261197 |
Multiple Pterygium Syndrome, Escobar Variant |
|
Syndactyly, Long clavicles, Arachnodactyly, Down-sloping shoulders, Rocker bottom foot, Patellar ... |
OMIM:265000 |
Autosomal Recessive Multiple Pterygium Syndrome |
|
Finger syndactyly, Camptodactyly of finger, Pectus excavatum, Rib fusion, Symphalangism affecting... |
ORPHA:2990 |
Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Radial bowing, Ulnar bowing, Flared metaphysis, Coxa vara, Tibial bowing, Femoral bowing, Flatten... |
OMIM:602111 |
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome |
|
Clinodactyly of the 5th finger, Rib fusion, Tapered toe, Tapered finger |
ORPHA:544488 |
White Forelock With Malformations |
|
Clinodactyly of the 5th finger, Finger syndactyly, Sprengel anomaly, Abnormal rib morphology |
ORPHA:2475 |
Acrocapitofemoral Dysplasia |
|
Short proximal phalanx of thumb, Coxa vara, Pectus carinatum, Narrow chest, Short palm, Hypoplast... |
OMIM:607778 |
Spondylometaphyseal Dysplasia, Algerian Type |
|
Metaphyseal dysplasia, Bowed humerus, Anterior rib cupping, Short tubular bones of the hand, Tibi... |
OMIM:184253 |
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Syndactyly, Thoracic hypoplasia, Postaxial polydactyly, Lateral clavicle hook, Hypoplastic ilia, ... |
OMIM:617895 |
Mosaic Trisomy 14 |
|
Camptodactyly of finger, Abnormal rib morphology, Narrow chest |
ORPHA:1703 |
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
|
11 pairs of ribs, Metaphyseal cupping of proximal phalanges, Thin ribs, Metaphyseal cupping of me... |
OMIM:300863 |
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2 |
|
Abnormal rib morphology |
ORPHA:2578 |
Hypophosphatasia |
|
Bowing of the long bones, Abnormal rib morphology, Narrow chest, Abnormal metaphysis morphology |
ORPHA:436 |
Pallister-Hall Syndrome |
|
Syndactyly, Mesoaxial foot polydactyly, Toe syndactyly, Mesoaxial hand polydactyly, Postaxial han... |
OMIM:146510 |
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1 |
|
Hyperextensibility of the finger joints, Overlapping toe, Pectus excavatum, Long fingers, Postaxi... |
OMIM:213980 |
Autosomal Recessive Robinow Syndrome |
|
Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Brachydactyly, Sandal gap, Camptodactyly... |
ORPHA:1507 |
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome |
|
Broad hallux phalanx, Toe syndactyly, Metatarsus valgus, Aplasia/Hypoplasia of toe, Postaxial han... |
ORPHA:3082 |
Lymphangiectasia, Intestinal |
|
Prominent floating ribs |
OMIM:152800 |
Aicardi Syndrome |
|
Missing ribs, Small hand, Rib fusion, Hip dysplasia, Supernumerary ribs, Bifid ribs |
ORPHA:50 |
Achondrogenesis Type 1B |
|
Short foot, Short thorax, Abnormal rib morphology, Narrow chest |
ORPHA:93298 |
Osteogenesis Imperfecta, Type Ii |
|
Crumpled long bones, Broad long bones, Beaded ribs, Tibial bowing, Bell-shaped thorax, Thin ribs,... |
OMIM:166210 |
Fibrochondrogenesis |
|
Hypoplastic scapulae, Camptodactyly of finger, Abnormal rib morphology, Bell-shaped thorax, Abnor... |
ORPHA:2021 |
Diastrophic Dysplasia |
|
Abnormal clavicle morphology, Bowing of the long bones, Camptodactyly of finger, Proximal placeme... |
ORPHA:628 |
Femoral-Facial Syndrome |
|
Short third metatarsal, Short humerus, Short fourth metatarsal, Toe syndactyly, Short fifth metat... |
OMIM:134780 |
Juberg-Hayward Syndrome |
|
Toe syndactyly, Short thumb, Hypoplasia of the radius, Abnormal finger morphology, Abnormal rib m... |
ORPHA:2319 |
Fibrochondrogenesis 1 |
|
Hypoplastic scapulae, Long clavicles, Anterior rib cupping, Dumbbell-shaped long bone, Broad long... |
OMIM:228520 |
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome |
|
Bowing of the long bones, Radial bowing, Abnormal rib morphology, Abnormal fibula morphology, Tib... |
ORPHA:3035 |
Microcephaly-Cervical Spine Fusion Anomalies Syndrome |
|
Pectus excavatum, Abnormal clavicle morphology, Abnormal rib morphology, Abnormal hip bone morpho... |
ORPHA:2522 |
Autosomal Recessive Kenny-Caffey Syndrome |
|
Stenosis of the medullary cavity of the long bones, Thin clavicles, Small hand, Thin ribs, Short ... |
ORPHA:93324 |
Melnick-Needles Syndrome |
|
Bowing of the long bones, Coxa valga, Short thorax, Abnormal rib morphology, Hip dislocation, Con... |
ORPHA:2484 |
Microphthalmia, Syndromic 3 |
|
Rib fusion, Supernumerary ribs, Missing ribs |
OMIM:206900 |
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type |
|
Radial bowing, Dumbbell-shaped long bone, Hypoplastic ischia, Hypoplastic ilia, Hypoplastic pubic... |
OMIM:151210 |
Isolated Klippel-Feil Syndrome |
|
Abnormal shoulder morphology, Sprengel anomaly, Abnormal rib morphology |
ORPHA:2345 |
Aicardi Syndrome |
|
Proximal placement of thumb, Missing ribs, Rib fusion, Supernumerary ribs, Bifid ribs |
OMIM:304050 |
Lethal Congenital Contracture Syndrome Type 1 |
|
Slender long bone, Abnormal rib morphology, Abnormal hip bone morphology |
ORPHA:1486 |
Craniosynostosis, Herrmann-Opitz Type |
|
Finger syndactyly, Split hand, Abnormal rib morphology, Brachydactyly |
ORPHA:2145 |
Osteogenesis Imperfecta, Type Xv |
|
Thin ribs |
OMIM:615220 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3 |
|
Hypoplasia of the ulna, Tapered finger, Hip dislocation, Thin ribs, Delayed ossification of carpa... |
OMIM:618395 |
Achondrogenesis, Type Ia |
|
Barrel-shaped chest, Abnormal femoral metaphysis morphology, Hypoplastic scapulae, Beaded ribs, B... |
OMIM:200600 |
Kenny-Caffey Syndrome, Type 1 |
|
Long clavicles, Thin clavicles, Small hand, Thin ribs, Short foot, Slender long bone, Short palm |
OMIM:244460 |
Dyggve-Melchior-Clausen Disease |
|
Epiphyseal dysplasia, Metaphyseal dysplasia, Abnormal pelvis bone morphology, Glenoid fossa hypop... |
ORPHA:239 |
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies |
|
Sprengel anomaly, Abnormal rib morphology |
OMIM:601076 |
Achondrogenesis, Type Ii |
|
Barrel-shaped chest, Broad long bones, Short tubular bones of the hand, Short long bone, Short ri... |
OMIM:200610 |
Wolf-Hirschhorn Syndrome |
|
Rib segmentation abnormalities, Hypoplastic pubic ramus, Arachnodactyly, Short hallux, Short thum... |
ORPHA:280 |
Cooper-Jabs Syndrome |
|
Camptodactyly of finger, Proximal placement of thumb, Missing ribs, Abnormal rib morphology, Abno... |
ORPHA:1488 |
Eiken Syndrome |
|
Broad femoral neck, Delayed epiphyseal ossification, Long thumb, Flat acetabular roof, Fibular hy... |
OMIM:600002 |
Mucolipidosis Iii Alpha/Beta |
|
Soft tissue swelling of interphalangeal joints, Irregular carpal bones, Split hand, Short long bo... |
OMIM:252600 |
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome |
|
Postaxial hand polydactyly, Abnormal rib morphology, Abnormal sternum morphology, Short ribs, Bro... |
ORPHA:2519 |
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Hypoplasia of the ulna, Thoracic hypoplasia, Metaphyseal spurs, Postaxial polydactyly, Lateral cl... |
OMIM:613091 |
Laryngotracheoesophageal Cleft Type 4 |
|
Abnormal rib morphology |
ORPHA:93941 |
Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Delayed epiphyseal ossification, Long fibula, Narrow chest, Narrow greater sciatic notch, Short p... |
OMIM:250220 |
Kyphomelic Dysplasia |
|
Short humerus, Short metacarpal, Radial bowing, Short femur, Anterior rib cupping, Bowed humerus,... |
OMIM:211350 |
Renpenning Syndrome |
|
Pectus excavatum, Abnormal thumb morphology, Abnormal rib morphology, Clinodactyly of the 5th fin... |
ORPHA:3242 |
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome |
|
Sandal gap, Sprengel anomaly, Abnormal rib morphology, Brachydactyly |
ORPHA:2180 |
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome |
|
Abnormal rib morphology |
ORPHA:2772 |
Imperforate Oropharynx-Costovertebral Anomalies Syndrome |
|
Clinodactyly of the 5th finger, Arachnodactyly, Abnormal rib morphology, Missing ribs |
ORPHA:2759 |
Ellis-Van Creveld Syndrome |
|
Capitate-hamate fusion, Postaxial hand polydactyly, Pectus carinatum, Postaxial foot polydactyly,... |
OMIM:225500 |
Septopreoptic Holoprosencephaly |
|
Abnormal rib morphology |
ORPHA:280195 |
Cog1-Cdg |
|
Coxa valga, Rib fusion, Posterior rib gap, Flat acetabular roof, Short long bone |
ORPHA:263508 |
Phaver Syndrome |
|
Broad hallux phalanx, Camptodactyly of finger, Short thumb, Abnormal rib morphology, Ulnar deviat... |
ORPHA:2876 |
Robinow Syndrome |
|
Syndactyly, Brachydactyly, Bifid distal phalanx of the thumb, Missing ribs, Rib fusion, Short dis... |
ORPHA:97360 |
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome |
|
Abnormal rib morphology |
ORPHA:2234 |
Wolf-Hirschhorn Syndrome |
|
Rib segmentation abnormalities, Pseudoepiphyses of the metacarpals, Short hallux, Metatarsus addu... |
OMIM:194190 |
Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Short metacarpal, Abnormal scapula morphology, Iliac crest serration, Metaphyseal chondrodysplasi... |
ORPHA:93317 |
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 |
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
|
Proximal placement of thumb, Abnormal thumb morphology, Short thumb, Preaxial hand polydactyly, A... |
ORPHA:1120 |
Baller-Gerold Syndrome |
|
Carpal bone aplasia, Hypoplasia of the ulna, Short humerus, Absent thumb, Absent radius, Aphalang... |
OMIM:218600 |
Zttk Syndrome |
|
Cervical ribs, Rib fusion, Short foot, Small hand |
OMIM:617140 |
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Ivory epiphyses, Short metacarpal, Bowing of the long bones, Metaphyseal spurs, Bowing of the leg... |
ORPHA:85167 |
Cleidocranial Dysplasia |
|
Hypoplastic scapulae, Down-sloping shoulders, Tapered finger, Abnormal thumb morphology, Abnormal... |
ORPHA:1452 |
Cenani-Lenz Syndrome |
|
Hypoplasia of the ulna, Finger syndactyly, Toe syndactyly, Short thumb, Hypoplasia of the radius,... |
ORPHA:3258 |
1P36 Deletion Syndrome |
|
11 pairs of ribs, Camptodactyly of finger, Rib fusion, Short foot, Hip dysplasia, Foot polydactyl... |
ORPHA:1606 |
Cardiospondylocarpofacial Syndrome |
|
Tarsal synostosis, Rib fusion, Cone-shaped epiphysis, Short foot, Pseudoepiphyses, Carpal synosto... |
OMIM:157800 |
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome |
|
Clinodactyly of the 5th finger, Abnormal rib morphology, Abnormal hip bone morphology, Pectus car... |
ORPHA:3068 |
Klippel-Feil Syndrome 1, Autosomal Dominant |
|
Sprengel anomaly, Abnormal rib morphology |
OMIM:118100 |
Mucopolysaccharidosis Type 4 |
|
Bowing of the long bones, Coxa valga, Short thorax, Abnormal rib morphology, Pectus carinatum, Ge... |
ORPHA:582 |
Holzgreve Syndrome |
|
Hand polydactyly, Abnormal rib morphology, Abnormal morphology of ulna, Abnormal metacarpal morph... |
ORPHA:2167 |
Pyknoachondrogenesis |
|
Hypoplastic ischia, Short iliac bones, Short thorax, Abnormal iliac wing morphology, Enlarged tho... |
ORPHA:3003 |
Antley-Bixler Syndrome |
|
Arachnodactyly, Camptodactyly of finger, Abnormal rib morphology, Femoral bowing, Narrow pelvis b... |
ORPHA:83 |
Oculocerebrocutaneous Syndrome |
|
Finger syndactyly, Congenital hip dislocation, Aplasia/Hypoplasia of the distal phalanges of the ... |
ORPHA:1647 |
Chromosome 1P36 Deletion Syndrome, Distal |
|
11 pairs of ribs, Camptodactyly of finger, Metatarsus adductus, Rib fusion, Short foot, Hip dyspl... |
OMIM:607872 |
Pallister-Hall Syndrome |
|
Mesoaxial polydactyly, Broad toe, Toe syndactyly, Overlapping toe, Radial bowing, Postaxial hand ... |
ORPHA:672 |
Campomelia, Cumming Type |
|
Bowing of the long bones, Abnormal thorax morphology, Abnormal rib morphology, Clubbing of toes, ... |
ORPHA:1318 |
Spondyloepimetaphyseal Dysplasia, X-Linked |
|
Pectus carinatum, Long fibula, Short palm, Short phalanx of finger, Broad metacarpals, Genu varum... |
OMIM:300106 |
Cole-Carpenter Syndrome |
|
Crumpled long bones, Abnormal metaphysis morphology, Abnormal rib morphology, Bowing of the long ... |
ORPHA:2050 |
Poland Syndrome |
|
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Abnormal morphology of ulna, Aplasia/Hypoplas... |
ORPHA:2911 |
Bent Bone Dysplasia Syndrome 2 |
|
Bowed humerus, Ulnar bowing, Femoral bowing, Thin ribs, Short sternum, Short ribs, Hypoplastic il... |
OMIM:620076 |
Prune Belly Syndrome |
|
Pectus excavatum, Congenital hip dislocation, Abnormal rib morphology |
ORPHA:2970 |
X-Linked Hypophosphatemia |
|
Shortening of the talar neck, Bowing of the long bones, Bowing of the legs, Beaded ribs, Enlargem... |
ORPHA:89936 |
Trisomy 13 |
|
Postaxial hand polydactyly, Abnormal rib morphology, Abnormal pelvic girdle bone morphology, Ectr... |
ORPHA:3378 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Arachnodactyly, Absent thumb, Rib fusion, Slender long bone, Cervical ribs |
ORPHA:500150 |
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Lateral clavicle hook, Preaxial hand polydactyly, Postaxial hand polydactyly, Pectus carinatum, D... |
OMIM:263520 |
Trisomy 1Q |
|
Toe syndactyly, Arachnodactyly, Camptodactyly of finger, Preaxial hand polydactyly, Short thorax,... |
ORPHA:261344 |
Cartilage-Hair Hypoplasia |
|
Metaphyseal dysplasia, Bowing of the long bones, Abnormal distal phalanx morphology of finger, Fl... |
ORPHA:175 |
Craniorachischisis |
|
Bifid sternum |
ORPHA:63260 |
Otopalatodigital Syndrome Type 2 |
|
Bowing of the long bones, Tarsal synostosis, Short hallux, Camptodactyly of finger, Short thumb, ... |
ORPHA:90652 |
Axial Mesodermal Dysplasia Spectrum |
|
Abnormal pelvic girdle bone morphology, Abnormal rib morphology, Missing ribs |
ORPHA:1834 |
Tetraamelia-Multiple Malformations Syndrome |
|
Aplasia/Hypoplasia involving the pelvis, Abnormal rib morphology, Missing ribs |
ORPHA:3301 |
Multiple Pterygium-Malignant Hyperthermia Syndrome |
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Finger syndactyly, Arachnodactyly, Camptodactyly of finger, Tapered finger, Pectus excavatum, Met... |
ORPHA:2215 |
Familial Osteodysplasia, Anderson Type |
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Aplastic clavicle, Missing ribs, Abnormal rib morphology, Bifid femur, Aplasia/hypoplasia of the ... |
ORPHA:2769 |
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
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Posterior rib fusion |
OMIM:265380 |
Autosomal Dominant Popliteal Pterygium Syndrome |
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Finger syndactyly, Toe syndactyly, Split hand, Abnormal rib morphology |
ORPHA:1300 |
Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
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Pectus carinatum, Femoral bowing, Foot oligodactyly, Aplasia/Hypoplasia of the tarsal bones, Phoc... |
OMIM:276820 |
Mosaic Trisomy 8 |
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Camptodactyly of finger, Patellar aplasia, Abnormal rib morphology, Narrow pelvis bone, Narrow ch... |
ORPHA:96061 |
Radio-Renal Syndrome |
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Brachydactyly, Hypoplasia of the radius, Abnormal rib morphology, Short palm |
ORPHA:3015 |
Aspergillosis |
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Abnormal long bone morphology, Abnormal rib morphology |
ORPHA:1163 |
Fibrous Dysplasia Of Bone |
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Abnormal clavicle morphology, Abnormal morphology of the radius, Bowing of the long bones, Abnorm... |
ORPHA:249 |
Alagille Syndrome |
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Clinodactyly of the 5th finger, Hypoplasia of the ulna, Abnormal rib morphology, Short distal pha... |
ORPHA:52 |
Camptodactyly Syndrome, Guadalajara Type 3 |
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Abnormal rib morphology, Small hand, Short foot, Thickened cortex of long bones, Broad femoral neck |
ORPHA:488434 |
Vacterl/Vater Association |
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Preaxial hand polydactyly, Finger syndactyly, Aplasia/Hypoplasia of the radius, Abnormal rib morp... |
ORPHA:887 |
Dextrocardia |
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Congenital hip dislocation, Abnormal rib morphology |
ORPHA:1666 |
Hurler Syndrome |
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Abnormal clavicle morphology, Camptodactyly of finger, Abnormal rib morphology, Narrow pelvis bon... |
ORPHA:93473 |
Schwartz-Jampel Syndrome |
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Hip contracture, Bowing of the long bones, Shoulder flexion contracture, Protrusio acetabuli, Cox... |
ORPHA:800 |
Myhre Syndrome |
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Brachydactyly, Abnormal rib morphology, Abnormal epiphysis morphology, Short palm, Large iliac wi... |
ORPHA:2588 |
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
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Femoral bowing, Narrow chest, Short metacarpal, Abnormal metacarpal epiphysis morphology, Arachno... |
ORPHA:95699 |
Osteogenesis Imperfecta |
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Multiple rib fractures, Bowing of the long bones, Protrusio acetabuli, Pectus excavatum, Fracture... |
ORPHA:666 |
Ulbright-Hodes Syndrome |
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Short humerus, Short metacarpal, Humeroradial synostosis, Abnormal rib morphology, Hypoplasia of ... |
ORPHA:3404 |
Trisomy 18 |
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Camptodactyly of finger, Postaxial hand polydactyly, Abnormal rib morphology, Deviation of finger... |
ORPHA:3380 |
Ear-Patella-Short Stature Syndrome |
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Camptodactyly of finger, Aplastic clavicle, Patellar aplasia, Abnormal rib morphology, Slender lo... |
ORPHA:2554 |
Hereditary Acrokeratotic Poikiloderma |
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Finger syndactyly, Camptodactyly of finger, Abnormal rib morphology, Abnormal hip bone morphology... |
ORPHA:2907 |
Monosomy 9Q22.3 |
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Pectus excavatum, Polydactyly, Abnormal rib morphology |
ORPHA:77301 |
Autosomal Recessive Malignant Osteopetrosis |
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Bowing of the long bones, Abnormal rib morphology, Abnormal epiphysis morphology, Narrow chest, A... |
ORPHA:667 |
Simpson-Golabi-Behmel Syndrome |
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Finger syndactyly, Congenital hip dislocation, Toe syndactyly, Camptodactyly of finger, Short 2nd... |
ORPHA:373 |
Smith-Lemli-Opitz Syndrome |
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Finger syndactyly, Proximal placement of thumb, Postaxial hand polydactyly, Split hand, Abnormal ... |
ORPHA:818 |
Vater/Vacterl Association |
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Syndactyly, Absent radius, Short thumb, Hypoplasia of the radius, Preaxial polydactyly, Abnormal ... |
OMIM:192350 |
Mucopolysaccharidosis Type 3 |
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Abnormal clavicle morphology, Avascular necrosis of the capital femoral epiphysis, Abnormal rib m... |
ORPHA:581 |
Pagod Syndrome |
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Abnormal clavicle morphology, Abnormal rib morphology |
ORPHA:991 |
Kindler Epidermolysis Bullosa |
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Finger syndactyly, Camptodactyly of finger, Abnormal rib morphology, Short 4th metacarpal, Short ... |
ORPHA:2908 |
Coffin-Lowry Syndrome |
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Hyperextensibility of the finger joints, Short metacarpal, Tapered finger, Pectus excavatum, Coxa... |
OMIM:303600 |
Monosomy 9P |
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Abnormality of the tarsal bones, Postaxial hand polydactyly, Abnormal rib morphology, Proximal pl... |
ORPHA:261112 |
Oculocerebrorenal Syndrome Of Lowe |
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Abnormal rib morphology, Hip dislocation, Genu valgum, Abnormal epiphysis morphology, Abnormal me... |
ORPHA:534 |
Alagille Syndrome 1 |
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Hypoplasia of the ulna, Abnormal rib morphology, Short distal phalanx of finger |
OMIM:118450 |
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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Abnormal tibia morphology, Abnormal rib morphology, Bifid femur, Clinodactyly of the 5th finger, ... |
ORPHA:138 |
Charge Syndrome |
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Hypoplasia of the ulna, Down-sloping shoulders, Absent radius, Short thumb, Abnormal rib morpholo... |
OMIM:214800 |