Cervical Rib |
|
Cervical ribs |
OMIM:117900 |
Hypertrophy Of The Breast, Juvenile |
|
Abnormal thorax morphology |
OMIM:113670 |
Spondylocostal Dysostosis 3, Autosomal Recessive |
|
Contracture of the proximal interphalangeal joint of the 2nd finger, Kyphosis, Hypoplasia of the ... |
OMIM:609813 |
Spondylocostal Dysostosis 2, Autosomal Recessive |
|
Short neck, Vertebral clefting, Rib fusion, Hemivertebrae, Vertebral segmentation defect |
OMIM:608681 |
Spondylocostal Dysostosis 5 |
|
Vertebral fusion, Low back pain, Missing ribs, Short neck, Hemivertebrae, Pectus carinatum, Poste... |
OMIM:122600 |
Neurogenic Thoracic Outlet Syndrome |
|
Abnormal rib morphology |
ORPHA:100073 |
Spondylocostal Dysostosis 1, Autosomal Recessive |
|
Back pain, Vertebral fusion, Block vertebrae, Abnormal odontoid process morphology, Kyphoscoliosi... |
OMIM:277300 |
Poland Syndrome |
|
Syndactyly, Unilateral oligodactyly, Rib fusion, Hemivertebrae, Unilateral brachydactyly, Short r... |
OMIM:173800 |
Autosomal Dominant Spondylocostal Dysostosis |
|
Short neck, Missing ribs, Hyperlordosis, Abnormal sacrum morphology, Short thorax, Abnormal rib m... |
ORPHA:1797 |
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome |
|
Finger syndactyly, Abnormality of the elbow, Abnormal rib morphology, Pectus carinatum, Radioulna... |
ORPHA:3268 |
Becker Nevus Syndrome |
|
Supernumerary nipple, Pectus excavatum, Kyphosis, Abnormal tibia morphology, Rib fusion, Pectus c... |
ORPHA:64755 |
Spondylometaphyseal Dysplasia, Type A4 |
|
Brachydactyly, Ovoid vertebral bodies, Coxa valga, Metaphyseal sclerosis, Enlargement of the cost... |
OMIM:609052 |
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome |
|
Abnormal rib morphology |
ORPHA:2435 |
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly |
|
Lateral clavicle hook, Postaxial hand polydactyly, Postaxial foot polydactyly, Trident acetabulum... |
OMIM:617405 |
Femoral-Facial Syndrome |
|
Short femur, Cryptorchidism, Abnormal sacrum morphology, Rib fusion, Abnormal rib morphology, Cox... |
ORPHA:1988 |
Thoracomelic Dysplasia |
|
Bell-shaped thorax, Short ribs |
OMIM:273740 |
Thoracic Dysostosis, Isolated |
|
Pectus excavatum, Short ribs, Bell-shaped thorax |
OMIM:187750 |
Sprengel Deformity |
|
Rib segmentation abnormalities, Cervical segmentation defect, Hemivertebrae, Scoliosis, Sprengel ... |
OMIM:184400 |
Thoracolaryngopelvic Dysplasia |
|
Metaphyseal widening, Irregular chondrocostal junctions, Bell-shaped thorax, Irregular vertebral ... |
OMIM:187760 |
Spondylocostal Dysostosis 4, Autosomal Recessive |
|
Vertebral fusion, Abnormal odontoid process morphology, Block vertebrae, Missing ribs, Pectus exc... |
OMIM:613686 |
Spondylometaphyseal Dysplasia, A4 Type |
|
Platyspondyly, Flared, irregular rib ends, Coxa vara, Short palm |
ORPHA:168555 |
Autosomal Recessive Spondylocostal Dysostosis |
|
Rib segmentation abnormalities, Finger syndactyly, Abnormal intervertebral disk morphology, Campt... |
ORPHA:2311 |
Heart Defects-Limb Shortening Syndrome |
|
Kyphosis, Abnormal rib morphology, Abnormal form of the vertebral bodies, Narrow chest, Abnormal ... |
ORPHA:1354 |
Kyphomelic Dysplasia |
|
Bowing of the long bones, Anterior rib cupping, Missing ribs, Lateral clavicle hook, Short thorax... |
ORPHA:1801 |
Endosteal Hyperostosis, Worth Type |
|
Sclerotic vertebral body, Abnormal rib morphology, Abnormal form of the vertebral bodies, Clavicu... |
ORPHA:2790 |
Mesomelic Dysplasia, Kantaputra Type |
|
Camptodactyly of finger, Tarsal synostosis, Abnormality of the humerus, Abnormal rib morphology, ... |
ORPHA:1836 |
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies |
|
Superior rib anomalies, Abnormality of the cervical spine |
OMIM:307500 |
Metatropic Dysplasia |
|
Abnormal metaphyseal vascular invasion, Enlarged joints, Long coccyx, Halberd-shaped pelvis, Narr... |
OMIM:156530 |
Becker Nevus Syndrome |
|
Pectus excavatum, Hemivertebrae, Cervical ribs, Scoliosis, Unilateral breast hypoplasia |
OMIM:604919 |
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness |
|
Broad toe, Lumbar hyperlordosis, Enlarged metacarpal epiphyses, Cupped ribs, Enlarged epiphyses o... |
OMIM:609616 |
Autosomal Dominant Brachyolmia |
|
Kyphoscoliosis, Increased vertebral height, Short thorax, Platyspondyly, Abnormal metaphysis morp... |
ORPHA:93304 |
Metatropic Dysplasia |
|
Abnormal intervertebral disk morphology, Camptodactyly of finger, Kyphosis, Abnormal rib morpholo... |
ORPHA:2635 |
Metaphyseal Chondrodysplasia, Schmid Type |
|
Broad proximal phalanges of the hand, Short tubular bones of the hand, Bowing of the legs, Proxim... |
ORPHA:174 |
Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Metaphyseal dysplasia, Short metacarpal, Lumbar hyperlordosis, Hypoplastic sacrum, Enlargement of... |
OMIM:271650 |
Spondylometaphyseal Dysplasia, Axial |
|
Anterior rib cupping, Splenomegaly, Proximal femoral metaphyseal irregularity, Coxa vara, Platysp... |
OMIM:602271 |
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Metaphyseal chondrodysplasia, Abnormal thorax morphology, Lymphopenia, Hypoplasia of the thymus |
OMIM:200900 |
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type |
|
Dysplastic iliac wing, Lumbar hyperlordosis, Ovoid vertebral bodies, Metaphyseal spurs, Bowing of... |
OMIM:608728 |
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly |
|
Postaxial polydactyly, Lateral clavicle hook, Cryptorchidism, Bell-shaped thorax, Short long bone... |
OMIM:615633 |
Fibrochondrogenesis 2 |
|
Hypoplastic ischia, Hypoplastic ilia, Cupped ribs, Metaphyseal widening, Hypoplastic pubic bone, ... |
OMIM:614524 |
Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Short metacarpal, Osteoarthritis, Abnormal joint morphology, Short metatarsal, Abnormal rib morph... |
ORPHA:93351 |
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
|
Vertebral fusion, Block vertebrae, Short neck, Missing ribs, Rib fusion, Hemivertebrae, Thin ribs... |
OMIM:271520 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3 |
|
Hypoplasia of the ulna, Short neck, Tapered finger, Multiple joint dislocation, Hip dislocation, ... |
OMIM:618395 |
Acropectorovertebral Dysplasia |
|
Finger syndactyly, Toe syndactyly, Bifid distal phalanx of the thumb, Capitate-hamate fusion, Abn... |
OMIM:102510 |
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 |
Osteogenesis Imperfecta, Type Ix |
|
Beaded ribs, Pectus excavatum, Kyphosis, Pectus carinatum, Platyspondyly, Scoliosis, Wormian bone... |
OMIM:259440 |
Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Radial bowing, Irregular sclerotic endplates, Ulnar bowing, Osteoarthritis, Flared metaphysis, Co... |
OMIM:602111 |
Craniodiaphyseal Dysplasia |
|
Abnormal rib morphology, Diaphyseal thickening |
ORPHA:1513 |
Diaphanospondylodysostosis |
|
Short neck, Missing ribs, Short thorax, Enlarged thorax, Narrow pelvis bone, Absent or minimally ... |
ORPHA:66637 |
Cerebrofaciothoracic Dysplasia |
|
Short neck, Rib fusion, Hemivertebrae, Vertebral segmentation defect, Narrow chest, Bifid ribs, S... |
ORPHA:1394 |
Spondyloepimetaphyseal Dysplasia, Strudwick Type |
|
Brachydactyly, Club-shaped proximal femur, Anterior rib cupping, Hyperlordosis, Hypoplasia of the... |
OMIM:184250 |
Congenital Disorder Of Glycosylation, Type Iig |
|
Thoracic scoliosis, Kyphoscoliosis, Short neck, Broad femoral neck, Cryptorchidism, Giant platele... |
OMIM:611209 |
Axial Spondylometaphyseal Dysplasia |
|
Aplasia/Hypoplasia of the vertebrae, Thoracic scoliosis, Proximal femoral metaphyseal irregularit... |
ORPHA:168549 |
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy |
|
Short metacarpal, Ovoid vertebral bodies, Cupped ribs, Metaphyseal widening, Coxa vara, Femoral b... |
OMIM:608940 |
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2 |
|
Vertebral segmentation defect, Abnormal rib morphology, Short neck |
ORPHA:2578 |
Multiple Pterygium Syndrome, Escobar Variant |
|
Short neck, Knee flexion contracture, Intercrural pterygium, Camptodactyly of toe, Pterygium, Dis... |
OMIM:265000 |
Isolated Klippel-Feil Syndrome |
|
Short neck, Abnormal sacrum morphology, Abnormal rib morphology, Abnormal shoulder morphology, Ab... |
ORPHA:2345 |
Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Enlarged joints, Irregular, rachitic-like metaphyses, Short neck, Coxa vara, Pectus carinatum, Ha... |
OMIM:184252 |
Hypersulfaturia |
|
Costochondral pain |
OMIM:620372 |
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome |
|
Short neck, Abnormal rib morphology, Hemivertebrae, Abnormal form of the vertebral bodies, Abnorm... |
ORPHA:2234 |
Pontine Tegmental Cap Dysplasia |
|
Ankle clonus, Rib fusion, Hemivertebrae, Scoliosis |
OMIM:614688 |
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies |
|
Pectus excavatum, Hypoplastic distal segments of scapulae, Abnormal rib morphology |
OMIM:602196 |
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe |
|
Bifid sternum, Supraumbilical raphe |
OMIM:140850 |
Pseudoachondroplasia |
|
Genu recurvatum, Spatulate ribs, Delayed epiphyseal ossification, Metaphyseal widening, Osteoarth... |
OMIM:177170 |
Microcephaly-Cervical Spine Fusion Anomalies Syndrome |
|
Abnormal clavicle morphology, Short neck, Pectus excavatum, Hyperlordosis, Kyphosis, Abnormal rib... |
ORPHA:2522 |
Holt-Oram Syndrome |
|
Abnormal clavicle morphology, Finger syndactyly, Down-sloping shoulders, Absent thumb, Pectus exc... |
ORPHA:392 |
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Abnormal clavicle morphology, Bowing of the long bones, Proximal placement of thumb, Short neck, ... |
ORPHA:93267 |
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 |
Thoracic Outlet Syndrome |
|
Abnormal rib morphology |
ORPHA:97330 |
Spondylometaphyseal Dysplasia, Algerian Type |
|
Metaphyseal dysplasia, Lumbar hyperlordosis, Bowed humerus, Anterior rib cupping, Kyphoscoliosis,... |
OMIM:184253 |
Dyggve-Melchior-Clausen Disease |
|
Glenoid fossa hypoplasia, Short neck, Coxa vara, Pectus carinatum, Broad ribs, Iliac crest serrat... |
ORPHA:239 |
Laryngotracheoesophageal Cleft Type 4 |
|
Abnormality of the spleen, Abnormal rib morphology, Abnormal form of the vertebral bodies |
ORPHA:93941 |
Osteogenesis Imperfecta, Type Xv |
|
Platyspondyly, Scoliosis, Thin ribs |
OMIM:615220 |
Thanatophoric Dysplasia, Type Ii |
|
Small abnormally formed scapulae, Hypoplastic ilia, Wide-cupped costochondral junctions, Flared m... |
OMIM:187601 |
Autosomal Recessive Multiple Pterygium Syndrome |
|
Finger syndactyly, Camptodactyly of finger, Multiple pterygia, Pectus excavatum, Cryptorchidism, ... |
ORPHA:2990 |
Kbg Syndrome |
|
Vertebral fusion, Syndactyly, Short neck, Cryptorchidism, Rib fusion, Vertebral arch anomaly, Cut... |
OMIM:148050 |
Congenital Pseudoarthrosis Of The Clavicle |
|
Congenital pseudoarthrosis of the clavicle, Osteoarthritis, Cervical ribs |
ORPHA:66630 |
Robinow Syndrome, Autosomal Recessive 1 |
|
Short neck, Hemivertebrae, Short palm, Thoracic hemivertebrae, Duplication of the distal phalanx ... |
OMIM:268310 |
Proximal 16P11.2 Microdeletion Syndrome |
|
Craniosynostosis, Rib fusion, Hand polydactyly, Scoliosis, Abnormal vertebral morphology |
ORPHA:261197 |
Lethal Congenital Contracture Syndrome Type 1 |
|
Short neck, Abnormality of the elbow, Abnormal rib morphology, Abnormal form of the vertebral bod... |
ORPHA:1486 |
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome |
|
Abnormally ossified vertebrae, Radial bowing, Bowing of the long bones, Splenomegaly, Abnormal ri... |
ORPHA:3035 |
Grant Syndrome |
|
Joint dislocation, Bowing of the long bones, Abnormal rib morphology, Abnormal pelvic girdle bone... |
ORPHA:2097 |
Schneckenbecken Dysplasia |
|
Hypoplastic scapulae, Anterior rib cupping, Ovoid vertebral bodies, Short neck, Lateral clavicle ... |
OMIM:269250 |
Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Lumbar hyperlordosis, Short neck, Splenomegaly, Delayed epiphyseal ossification, Genu varum, Fibu... |
OMIM:602557 |
Microphthalmia, Syndromic 3 |
|
Vertebral fusion, Anterior pituitary hypoplasia, Missing ribs, Cryptorchidism, Rib fusion, Hemive... |
OMIM:206900 |
Dyggve-Melchior-Clausen Disease |
|
Short neck, Metaphyseal widening, Flat glenoid fossa, Short metatarsal, Pectus carinatum, Femoral... |
OMIM:223800 |
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness |
|
Metaphyseal widening, Flat glenoid fossa, Coxa vara, Short palm, Genu varum, Lumbar hyperlordosis... |
OMIM:250420 |
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1 |
|
Beaking of vertebral bodies, Vertebral fusion, Sacral dimple, Hyperextensibility of the finger jo... |
OMIM:213980 |
Mosaic Trisomy 14 |
|
Camptodactyly of finger, Short neck, Cryptorchidism, Abnormal rib morphology, Narrow chest |
ORPHA:1703 |
Femoral-Facial Syndrome |
|
Short third metatarsal, Short humerus, Short fourth metatarsal, Toe syndactyly, Short fifth metat... |
OMIM:134780 |
Microcephalic Primordial Dwarfism, Toriello Type |
|
Brachydactyly, Abnormal rib morphology, Abnormal epiphysis morphology, Neutropenia |
ORPHA:2643 |
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type |
|
Disc-like vertebral bodies, Radial bowing, Ovoid vertebral bodies, Dumbbell-shaped long bone, Sho... |
OMIM:151210 |
Cog1-Cdg |
|
Irregularity of vertebral bodies, Kyphoscoliosis, Short neck, Coxa valga, Rib fusion, Posterior r... |
ORPHA:263508 |
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome |
|
Broad hallux phalanx, Toe syndactyly, Short neck, Metatarsus valgus, Cryptorchidism, Kyphosis, Po... |
ORPHA:3082 |
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 |
White Forelock With Malformations |
|
Finger syndactyly, Abnormal rib morphology, Clinodactyly of the 5th finger, Sprengel anomaly, Spi... |
ORPHA:2475 |
Septopreoptic Holoprosencephaly |
|
Anterior hypopituitarism, Abnormal rib morphology, Abnormal vertebral morphology |
ORPHA:280195 |
Pallister-Hall Syndrome |
|
Thyroid dysgenesis, Syndactyly, Mesoaxial foot polydactyly, Toe syndactyly, Decreased response to... |
OMIM:146510 |
10Q22.3Q23.3 Microduplication Syndrome |
|
Abnormal clavicle morphology, Abnormal rib morphology |
ORPHA:276422 |
Mucopolysaccharidosis Type 4 |
|
Joint dislocation, Bowing of the long bones, Hyperlordosis, Short neck, Kyphosis, Coxa valga, Sho... |
ORPHA:582 |
Acrocapitofemoral Dysplasia |
|
Short proximal phalanx of thumb, Coxa vara, Pectus carinatum, Narrow chest, Short palm, Hypoplast... |
OMIM:607778 |
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome |
|
Sandal gap, Abnormal rib morphology, Hemivertebrae, Abnormal form of the vertebral bodies, Scolio... |
ORPHA:2180 |
Osteogenesis Imperfecta, Type Ii |
|
Crumpled long bones, Broad long bones, Beaded ribs, Thin ribs, Bell-shaped thorax, Tibial bowing,... |
OMIM:166210 |
Hypophosphatasia |
|
Bowing of the long bones, Craniosynostosis, Abnormal rib morphology, Narrow chest, Abnormal metap... |
ORPHA:436 |
Autosomal Recessive Robinow Syndrome |
|
Short neck, Pectus carinatum, Vertebral segmentation defect, Clinodactyly of the 5th finger, Syno... |
ORPHA:1507 |
Mucopolysaccharidosis, Type Iva |
|
Short neck, Epiphyseal deformities of tubular bones, Metaphyseal widening, Pectus carinatum, Ante... |
OMIM:253000 |
3M Syndrome |
|
Hypoplasia of the ulna, Scapular winging, Congenital hip dislocation, Rocker bottom foot, Hypopla... |
ORPHA:2616 |
Aicardi Syndrome |
|
Block vertebrae, Missing ribs, Rib fusion, Small hand, Hip dysplasia, Supernumerary ribs, Scolios... |
ORPHA:50 |
Fibrochondrogenesis 1 |
|
Short neck, Narrow greater sciatic notch, Short palm, Clinodactyly of the 5th finger, Widely pate... |
OMIM:228520 |
Fibrochondrogenesis |
|
Hypoplastic scapulae, Camptodactyly of finger, Short neck, Abnormal rib morphology, Abnormal form... |
ORPHA:2021 |
Mucopolysaccharidosis, Type X |
|
Irregular acetabular roof, Spatulate ribs, Hyperlordosis, Broad clavicles, Genu valgum, Platyspon... |
OMIM:619698 |
Klippel-Feil Syndrome 1, Autosomal Dominant |
|
Short neck, Abnormal rib morphology, Scoliosis, Cervical C2/C3 vertebral fusion, Sprengel anomaly... |
OMIM:118100 |
Lymphangiectasia, Intestinal |
|
Lymphopenia, Prominent floating ribs |
OMIM:152800 |
Melnick-Needles Syndrome |
|
Bowing of the long bones, Delayed cranial suture closure, Coxa valga, Short thorax, Abnormal rib ... |
ORPHA:2484 |
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome |
|
Sacral dimple, Tapered toe, Tapered finger, Bilateral cryptorchidism, Rib fusion, Clinodactyly of... |
ORPHA:544488 |
Achondrogenesis Type 1B |
|
Short neck, Short thorax, Abnormal rib morphology, Short foot, Narrow chest |
ORPHA:93298 |
Cat-Eye Syndrome |
|
Hip dysplasia, Abnormal rib morphology |
ORPHA:195 |
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly |
|
Joint dislocation, Femoral bowing, Knee flexion contracture, Short 5th metacarpal, Radial bowing,... |
OMIM:618019 |
Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Short neck, Bowing of the legs, Delayed epiphyseal ossification, Metaphyseal widening, Abnormal v... |
ORPHA:93352 |
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy |
|
Wormian bones, Anterior rib cupping, Kyphoscoliosis, Short neck, Hypoplasia of the odontoid proce... |
OMIM:300232 |
Phaver Syndrome |
|
Broad hallux phalanx, Camptodactyly of finger, Short thumb, Abnormal rib morphology, Abnormal for... |
ORPHA:2876 |
Imperforate Oropharynx-Costovertebral Anomalies Syndrome |
|
Arachnodactyly, Missing ribs, Abnormal rib morphology, Hemivertebrae, Abnormal form of the verteb... |
ORPHA:2759 |
Thanatophoric Dysplasia, Type I |
|
Bowing of the long bones, Small abnormally formed scapulae, Short neck, Hypoplastic ilia, Wide-cu... |
OMIM:187600 |
Aicardi Syndrome |
|
Block vertebrae, Proximal placement of thumb, Missing ribs, Hemivertebrae, Rib fusion, Supernumer... |
OMIM:304050 |
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies |
|
Sprengel anomaly, Abnormality of the vertebral column, Abnormal rib morphology |
OMIM:601076 |
Autosomal Recessive Kenny-Caffey Syndrome |
|
Stenosis of the medullary cavity of the long bones, Thin clavicles, Small hand, Thin ribs, Short ... |
ORPHA:93324 |
Wolf-Hirschhorn Syndrome |
|
Rib segmentation abnormalities, Hypoplastic pubic ramus, Sacral dimple, Arachnodactyly, Short hal... |
ORPHA:280 |
Kenny-Caffey Syndrome, Type 1 |
|
Long clavicles, Delayed closure of the anterior fontanelle, Thin clavicles, Small hand, Thin ribs... |
OMIM:244460 |
Cole-Carpenter Syndrome |
|
Crumpled long bones, Bowing of the long bones, Kyphosis, Abnormal rib morphology, Abnormal form o... |
ORPHA:2050 |
Mucolipidosis Iii Alpha/Beta |
|
Soft tissue swelling of interphalangeal joints, Craniosynostosis, Irregular carpal bones, Split h... |
OMIM:252600 |
Lethal Kniest-Like Dysplasia |
|
Abnormal ischium morphology, Broad long bones, Anterior rib cupping, Short neck, Hypoplastic ilia... |
ORPHA:2347 |
Achondrogenesis Type 1A |
|
Multiple rib fractures, Short neck, Short thorax, Short foot, Narrow chest, Short palm |
ORPHA:93299 |
Osteogenesis Imperfecta, Type Xvi |
|
Angulated humerus, Multiple rib fractures, Bowing of the long bones, Beaded ribs, Platyspondyly, ... |
OMIM:616229 |
Infantile-Onset X-Linked Spinal Muscular Atrophy |
|
Hip contracture, Interphalangeal joint contracture of finger, Kyphoscoliosis, Ankle flexion contr... |
ORPHA:1145 |
Achondrogenesis, Type Ii |
|
Barrel-shaped chest, Absent vertebral body mineralization, Broad long bones, Short tubular bones ... |
OMIM:200610 |
Mucopolysaccharidosis Type 6 |
|
Epiphyseal dysplasia, Ovoid vertebral bodies, Short neck, Splenomegaly, Kyphosis, Genu valgum, Br... |
ORPHA:583 |
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development |
|
Hypoplasia of the ulna, Short femur, Absent thumb, Cryptorchidism, Fibular hypoplasia, Aplasia/Hy... |
OMIM:612447 |
Cooper-Jabs Syndrome |
|
Camptodactyly of finger, Proximal placement of thumb, Missing ribs, Abnormal rib morphology, Abno... |
ORPHA:1488 |
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Hypoplastic iliac wing, Metaphyseal chondrodysplasia, Abnormality of the calcaneus, Thin ribs, Me... |
ORPHA:163966 |
Dysosteosclerosis |
|
Sclerotic scapulae, Delayed closure of the anterior fontanelle, Increased intervertebral space, A... |
OMIM:224300 |
Acro-Renal-Mandibular Syndrome |
|
Abnormal clavicle morphology, Hypoplasia of the ulna, Hypoplastic scapulae, Finger syndactyly, Sh... |
ORPHA:958 |
Achondrogenesis, Type Ia |
|
Barrel-shaped chest, Abnormal femoral metaphysis morphology, Hypoplastic scapulae, Hypoplastic sa... |
OMIM:200600 |
Spondyloepimetaphyseal Dysplasia, X-Linked |
|
Anterior wedging of T12, Pectus carinatum, Long fibula, Short palm, Short phalanx of finger, Broa... |
OMIM:300106 |
Mucopolysaccharidosis, Type Iiia |
|
Splenomegaly, Thickened ribs, Ovoid thoracolumbar vertebrae, Scoliosis |
OMIM:252900 |
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Syndactyly, Thoracic hypoplasia, Postaxial polydactyly, Lateral clavicle hook, Hypoplastic ilia, ... |
OMIM:617895 |
Osteogenesis Imperfecta, Type Xviii |
|
Bowing of the long bones, Femoral bowing, Thin ribs, Biconcave vertebral bodies, Wormian bones, V... |
OMIM:617952 |
Three M Syndrome 2 |
|
Scapular winging, Lumbar hyperlordosis, Short neck, Hyperlordosis, Short thorax, Thin ribs, Pectu... |
OMIM:612921 |
Shwachman-Diamond Syndrome 1 |
|
Acute myeloid leukemia, Pancytopenia, Anterior rib cupping, Ovoid vertebral bodies, Metaphyseal s... |
OMIM:260400 |
Cenani-Lenz Syndrome |
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Hypoplasia of the ulna, Finger syndactyly, Toe syndactyly, Elbow dislocation, Short thumb, Hypopl... |
ORPHA:3258 |
Osteogenesis Imperfecta, Type Iii |
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Protrusio acetabuli, Kyphosis, Tibial bowing, Thin ribs, Slender long bone, Scoliosis, Wormian bo... |
OMIM:259420 |
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
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Ivory epiphyses, Short metacarpal, Bowing of the long bones, Ovoid vertebral bodies, Metaphyseal ... |
ORPHA:85167 |
Kyphomelic Dysplasia |
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Short humerus, Short metacarpal, Radial bowing, Short femur, Anterior rib cupping, Bowed humerus,... |
OMIM:211350 |
Cartilage-Hair Hypoplasia |
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Metaphyseal widening, Coxa vara, Femoral bowing, Narrow chest, Short palm, Neutropenia, Lumbar hy... |
OMIM:250250 |
Bent Bone Dysplasia Syndrome 2 |
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Bowed humerus, Short neck, Ulnar bowing, Thin ribs, Femoral bowing, Coronal cleft vertebrae, Plat... |
OMIM:620076 |
Wolf-Hirschhorn Syndrome |
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Accessory spleen, Rib segmentation abnormalities, Vertebral fusion, Sacral dimple, Pseudoepiphyse... |
OMIM:194190 |
Robinow Syndrome |
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Fused thoracic vertebrae, Syndactyly, Brachydactyly, Kyphoscoliosis, Missing ribs, Bifid distal p... |
ORPHA:97360 |
Craniosynostosis, Herrmann-Opitz Type |
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Finger syndactyly, Craniosynostosis, Split hand, Abnormal rib morphology, Brachydactyly |
ORPHA:2145 |
Acromesomelic Dysplasia 4 |
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Thoracic scoliosis, Short metatarsal, Short phalanx of finger, Genu varum, Short metacarpal, Lumb... |
OMIM:619636 |
Spondylometaphyseal Dysplasia, Sedaghatian Type |
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Short neck, Delayed epiphyseal ossification, Long fibula, Narrow chest, Narrow greater sciatic no... |
OMIM:250220 |
Mucopolysaccharidosis, Type Ivb |
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Ulnar deviation of the wrist, Ovoid vertebral bodies, Hyperlordosis, Epiphyseal deformities of tu... |
OMIM:253010 |
Mucopolysaccharidosis, Type Iiib |
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Splenomegaly, Thickened ribs, Ovoid thoracolumbar vertebrae |
OMIM:252920 |
Baller-Gerold Syndrome |
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Limited elbow movement, Patellar hypoplasia, Spina bifida occulta, Abnormal vertebral morphology,... |
OMIM:218600 |
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
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Proximal placement of thumb, Abnormal thumb morphology, Short thumb, Preaxial hand polydactyly, A... |
ORPHA:1120 |
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome |
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Cryptorchidism, Abnormal rib morphology |
ORPHA:2772 |
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome |
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Supernumerary nipple, Cryptorchidism, Postaxial hand polydactyly, Abnormal rib morphology, Abnorm... |
ORPHA:2519 |
Poland Syndrome |
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Aplasia/Hypoplasia of the thumb, Short neck, Hemivertebrae, Pectus carinatum, Abnormal sternum mo... |
ORPHA:2911 |
Axial Mesodermal Dysplasia Spectrum |
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Abnormality of the knee, Short neck, Missing ribs, Abnormality of the spleen, Abnormal rib morpho... |
ORPHA:1834 |
Craniometadiaphyseal Dysplasia, Wormian Bone Type |
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Short tubular bones of the hand, Coxa valga, Vertebral arch anomaly, Abnormal diaphysis morpholog... |
ORPHA:85184 |
Spondylometaphyseal Dysplasia, Sedaghatian Type |
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Short metacarpal, Abnormal scapula morphology, Iliac crest serration, Metaphyseal chondrodysplasi... |
ORPHA:93317 |
Multiple Synostoses Syndrome 1 |
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Hypoplastic spinal processes, Symphalangism affecting the phalanges of the hand, Cutaneous finger... |
OMIM:186500 |
Campomelia, Cumming Type |
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Abnormally ossified vertebrae, Bowing of the long bones, Pancreatic cysts, Abnormal thorax morpho... |
ORPHA:1318 |
Brachytelephalangic Chondrodysplasia Punctata |
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Cervical kyphosis, Hypoplastic cervical vertebrae, Vertebral hypoplasia, Calcaneal epiphyseal sti... |
ORPHA:79345 |
Holzgreve Syndrome |
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Abnormally ossified vertebrae, Abnormal morphology of ulna, Abnormal rib morphology, Hand polydac... |
ORPHA:2167 |
Cardiospondylocarpofacial Syndrome |
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Tarsal synostosis, Rib fusion, Cone-shaped epiphysis, Fused cervical vertebrae, Pseudoepiphyses, ... |
OMIM:157800 |
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
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Hypoplasia of the ulna, Thoracic hypoplasia, Metaphyseal spurs, Postaxial polydactyly, Lateral cl... |
OMIM:613091 |
Mucopolysaccharidosis, Type Iiic |
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Thickened ribs, Kyphoscoliosis, Splenomegaly, Ovoid thoracolumbar vertebrae, Beaking of vertebral... |
OMIM:252930 |
Cleidocranial Dysplasia |
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Hypoplastic scapulae, Wormian bones, Down-sloping shoulders, Tapered finger, Abnormal thumb morph... |
ORPHA:1452 |
Zttk Syndrome |
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Absent gallbladder, Craniosynostosis, Kyphosis, Rib fusion, Hemivertebrae, Small hand, Short foot... |
OMIM:617140 |
Cole-Carpenter Syndrome 2 |
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Wide cranial sutures, Pectus excavatum, Kyphosis, Thin ribs, Platyspondyly, Lambdoidal craniosyno... |
OMIM:616294 |
Prune Belly Syndrome |
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Congenital hip dislocation, Pectus excavatum, Cryptorchidism, Abnormal rib morphology, Vertebral ... |
ORPHA:2970 |
Osteogenesis Imperfecta, Type Viii |
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Barrel-shaped chest, Short metacarpal, Radial bowing, Femoral retroversion, Kyphosis, Thin ribs, ... |
OMIM:610915 |
Multiple Pterygium Syndrome, X-Linked |
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Joint dislocation, Vertebral fusion, Abnormal cervical curvature, Multiple pterygia, Thin ribs, S... |
OMIM:312150 |
Pyknoachondrogenesis |
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Hypoplastic ischia, Short iliac bones, Short thorax, Abnormal iliac wing morphology, Poorly ossif... |
ORPHA:3003 |
Greenberg Dysplasia |
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Beaded ribs, Tetraphocomelia, Hypoplastic vertebral bodies, Hypoplasia of the calcaneus, Narrow c... |
OMIM:215140 |
Orofaciodigital Syndrome Iii |
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Pectus excavatum, Kyphosis, Postaxial hand polydactyly, Postaxial foot polydactyly, Short sternum |
OMIM:258850 |
1P36 Deletion Syndrome |
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11 pairs of ribs, Camptodactyly of finger, Cryptorchidism, Abnormality of the spleen, Kyphosis, R... |
ORPHA:1606 |
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome |
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Hyperlordosis, Abnormal rib morphology, Pectus carinatum, Abnormal hip bone morphology, Clinodact... |
ORPHA:3068 |
Holt-Oram Syndrome |
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Syndactyly, Thoracic scoliosis, Hypoplasia of the ulna, Short humerus, Aplasia of the ulna, Pectu... |
OMIM:142900 |
Renpenning Syndrome |
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Pectus excavatum, Abnormal thumb morphology, Abnormal rib morphology, Clinodactyly of the 5th fin... |
ORPHA:3242 |
Ellis-Van Creveld Syndrome |
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Cryptorchidism, Capitate-hamate fusion, Postaxial hand polydactyly, Pectus carinatum, Postaxial f... |
OMIM:225500 |
Ossification Anomalies-Psychomotor Developmental Delay Syndrome |
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Abnormal thorax morphology, Metaphyseal widening, Abnormal form of the vertebral bodies, Thin rib... |
ORPHA:73230 |
Frontometaphyseal Dysplasia 1 |
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Limited elbow movement, Knee flexion contracture, Increased density of long bone diaphyses, Wrist... |
OMIM:305620 |
Cantú Syndrome |
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Finger syndactyly, Broad hallux phalanx, Ovoid vertebral bodies, Short hallux, Short neck, Coxa v... |
ORPHA:1517 |
Multiple Pterygium Syndrome, Lethal Type |
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Joint dislocation, Vertebral fusion, Abnormal cervical curvature, Multiple pterygia, Thin ribs, S... |
OMIM:253290 |
Gm1-Gangliosidosis, Type I |
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Thickened ribs, Short neck, Splenomegaly, Kyphosis, Vacuolated lymphocytes, Hypoplastic vertebral... |
OMIM:230500 |
Osteogenesis Imperfecta, Type X |
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Multiple rib fractures, Thoracic scoliosis, Short femur, Bowing of the long bones, Thin ribs, Tib... |
OMIM:613848 |
Pallister-Hall Syndrome |
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Gonadotropin deficiency, Hemivertebrae, Mesoaxial polydactyly, Radial bowing, Cryptorchidism, Rib... |
ORPHA:672 |
Craniometadiaphyseal Dysplasia |
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Broad long bones, Coxa valga, Cubitus valgus, Flared metaphysis, Genu valgum, Scoliosis, Wormian ... |
OMIM:269300 |
Gracile Bone Dysplasia |
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Asplenia, Flared metaphysis, Thin ribs, Slender long bone, Hypoplastic spleen, Brachydactyly |
OMIM:602361 |
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
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Hypoplasia of the ulna, Pancreatic fibrosis, Lateral clavicle hook, Pancreatic cysts, Hypoplastic... |
OMIM:208500 |
Eiken Syndrome |
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Broad femoral neck, Delayed epiphyseal ossification, Long thumb, Flat acetabular roof, Fibular hy... |
OMIM:600002 |
Cartilage-Hair Hypoplasia |
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Short neck, Metaphyseal chondrodysplasia, Abnormal form of the vertebral bodies, Pectus carinatum... |
ORPHA:175 |
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type |
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Short neck, Bowing of the legs, Pectus carinatum, Abnormal calcification of the carpal bones, Tri... |
OMIM:271665 |
Lethal Congenital Contracture Syndrome 10 |
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Thoracic scoliosis, Overlapping fingers, Short neck, Femoral bowing, Short long bone, Hypoplasia ... |
OMIM:617022 |
Antley-Bixler Syndrome |
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Arachnodactyly, Camptodactyly of finger, Craniosynostosis, Abnormal rib morphology, Femoral bowin... |
ORPHA:83 |
Familial Osteodysplasia, Anderson Type |
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Aplastic clavicle, Missing ribs, Elbow dislocation, Kyphosis, Abnormal rib morphology, Abnormal f... |
ORPHA:2769 |
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development |
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Slender long bone, Brachydactyly, Craniosynostosis, Thin ribs |
OMIM:618265 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures |
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Short neck, Metaphyseal widening, Delayed proximal femoral epiphyseal ossification, Irregular ver... |
OMIM:271640 |
Acrorenal-Mandibular Syndrome |
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Hypoplasia of the ulna, Hypoplastic scapulae, Absent nipple, Toe syndactyly, Kyphoscoliosis, Miss... |
OMIM:200980 |
Xylt1-Cdg |
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Joint dislocation, Coxa valga, Flared metaphysis, Short long bone, Short femoral neck, Short clav... |
ORPHA:370930 |
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis |
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Neutrophilia, Splenomegaly, Fused cervical vertebrae, Joint swelling, Flaring of rib cage, Broad ... |
OMIM:612852 |
X-Linked Hypophosphatemia |
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Shortening of the talar neck, Bowing of the long bones, Craniosynostosis, Beaded ribs, Bowing of ... |
ORPHA:89936 |
X-Linked Myotubular Myopathy-Abnormal Genitalia Syndrome |
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Cryptorchidism, Thin ribs |
ORPHA:456328 |
Radio-Renal Syndrome |
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Short neck, Hypoplasia of the radius, Abnormal rib morphology, Abnormality of the elbow, Abnormal... |
ORPHA:3015 |
Autosomal Dominant Popliteal Pterygium Syndrome |
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Finger syndactyly, Toe syndactyly, Cryptorchidism, Split hand, Abnormal rib morphology, Popliteal... |
ORPHA:1300 |
Mosaic Trisomy 8 |
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Camptodactyly of finger, Short neck, Cryptorchidism, Patellar aplasia, Abnormal rib morphology, N... |
ORPHA:96061 |
Van Den Ende-Gupta Syndrome |
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Glenoid fossa hypoplasia, Lateral clavicle hook, 2-3 toe cutaneous syndactyly, Femoral bowing, Kn... |
OMIM:600920 |
Basal Cell Nevus Syndrome 1 |
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Vertebral fusion, Short distal phalanx of the thumb, Ovarian fibroma, Down-sloping shoulders, Kyp... |
OMIM:109400 |
Trisomy 13 |
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Cryptorchidism, Kyphosis, Postaxial hand polydactyly, Abnormal rib morphology, Abnormal pelvic gi... |
ORPHA:3378 |
Alagille Syndrome |
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Hypoplasia of the ulna, Cryptorchidism, Abnormal rib morphology, Abnormal form of the vertebral b... |
ORPHA:52 |
Meier-Gorlin Syndrome 1 |
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Genu recurvatum, Lateral clavicle hook, Flat glenoid fossa, Hemivertebrae, Pectus carinatum, Cuta... |
OMIM:224690 |
Oculocerebrocutaneous Syndrome |
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Finger syndactyly, Congenital hip dislocation, Missing ribs, Aplasia/Hypoplasia of the distal pha... |
ORPHA:1647 |
Tetraamelia-Multiple Malformations Syndrome |
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Abnormally ossified vertebrae, Missing ribs, Cryptorchidism, Abnormal rib morphology, Aplasia/Hyp... |
ORPHA:3301 |
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
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Pancreatic fibrosis, Lateral clavicle hook, Preaxial hand polydactyly, Postaxial hand polydactyly... |
OMIM:263520 |
Mucopolysaccharidosis, Type Vi |
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Epiphyseal dysplasia, Lumbar hyperlordosis, Ovoid vertebral bodies, Kyphoscoliosis, Anterior wedg... |
OMIM:253200 |
Chromosome 1P36 Deletion Syndrome, Distal |
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11 pairs of ribs, Camptodactyly of finger, Delayed closure of the anterior fontanelle, Metatarsus... |
OMIM:607872 |
Hyperparathyroidism, Transient Neonatal |
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Hyperparathyroidism, Short femur, Wide cranial sutures, Metaphyseal spurs, Undulate ribs, Thin ri... |
OMIM:618188 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
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Absent gallbladder, Lumbar hyperlordosis, Arachnodactyly, Kyphoscoliosis, Absent thumb, Sagittal ... |
ORPHA:500150 |
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation |
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Coat hanger sign of ribs, Thoracic hypoplasia |
ORPHA:254534 |
Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
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Short neck, Hemivertebrae, Pectus carinatum, Femoral bowing, Foot oligodactyly, Aplasia/Hypoplasi... |
OMIM:276820 |
Hurler Syndrome |
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Abnormal clavicle morphology, Camptodactyly of finger, Short neck, Splenomegaly, Abnormality of t... |
ORPHA:93473 |
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
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Hypoplastic pubic ramus, Proximal placement of thumb, Short neck, Short metatarsal, Patellar hypo... |
OMIM:609945 |
Craniorachischisis |
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Bifid sternum |
ORPHA:63260 |
Otopalatodigital Syndrome Type 2 |
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Bowing of the long bones, Tarsal synostosis, Short hallux, Camptodactyly of finger, Elbow disloca... |
ORPHA:90652 |
Multiple Pterygium-Malignant Hyperthermia Syndrome |
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Finger syndactyly, Prominent metopic ridge, Arachnodactyly, Camptodactyly of finger, Tapered fing... |
ORPHA:2215 |
Fibrous Dysplasia Of Bone |
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Abnormal clavicle morphology, Abnormal morphology of the radius, Bowing of the long bones, Abnorm... |
ORPHA:249 |
Vacterl/Vater Association |
|
Finger syndactyly, Abnormal intervertebral disk morphology, Cryptorchidism, Abnormal sacrum morph... |
ORPHA:887 |
Osteogenesis Imperfecta, Type Vii |
|
Multiple rib fractures, Crumpled long bones, Wide cranial sutures, Protrusio acetabuli, Femoral r... |
OMIM:610682 |
Occipital Horn Syndrome |
|
Short humerus, Persistent open anterior fontanelle, Pelvic bone exostoses, Broad clavicles, Pectu... |
OMIM:304150 |
Trisomy 1Q |
|
Toe syndactyly, Arachnodactyly, Camptodactyly of finger, Cryptorchidism, Preaxial hand polydactyl... |
ORPHA:261344 |
Schwartz-Jampel Syndrome |
|
Short neck, Coxa vara, Pectus carinatum, Wrist flexion contracture, Abnormally ossified vertebrae... |
ORPHA:800 |
Camptodactyly Syndrome, Guadalajara Type 3 |
|
Short neck, Abnormal rib morphology, Small hand, Short foot, Spina bifida occulta, Thickened cort... |
ORPHA:488434 |
Aspergillosis |
|
Eosinophilia, Abnormal rib morphology, Abnormal long bone morphology, Abnormality of the vertebra... |
ORPHA:1163 |
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Asplenia, Annular pancreas, Posterior rib fusion, Butterfly vertebrae |
OMIM:265380 |
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Adrenal hyperplasia, Femoral bowing, Abnormal ovarian morphology, Narrow chest, Abnormality of th... |
ORPHA:95699 |
Dextrocardia |
|
Congenital hip dislocation, Abnormality of the spleen, Pancreatic hypoplasia, Abnormal rib morpho... |
ORPHA:1666 |
Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Absent gallbladder, Postaxial polydactyly, Short neck, Lateral clavicle hook, Preaxial polydactyl... |
OMIM:617925 |
Short-Rib Thoracic Dysplasia 15 With Polydactyly |
|
Postaxial polydactyly, Splenomegaly, Postaxial hand polydactyly, Aplasia of the epiglottis, Cone-... |
OMIM:617088 |
Monosomy 9Q22.3 |
|
Ovarian fibroma, Short neck, Pectus excavatum, Kyphosis, Abnormal rib morphology, Abnormality of ... |
ORPHA:77301 |
Cerebrocostomandibular Syndrome |
|
Rib gap, 10 pairs of ribs, 11 pairs of ribs, Congenital hip dislocation, Anomalous rib insertion ... |
OMIM:117650 |
Myhre Syndrome |
|
Brachydactyly, Cryptorchidism, Abnormal rib morphology, Platyspondyly, Abnormal epiphysis morphol... |
ORPHA:2588 |
Osteogenesis Imperfecta |
|
Cervical kyphosis, Abnormal tibia morphology, Osteoarthritis, Abnormal femur morphology, Abnormal... |
ORPHA:666 |
Ulbright-Hodes Syndrome |
|
Short humerus, Short metacarpal, Short neck, Cryptorchidism, Humeroradial synostosis, Abnormal ri... |
ORPHA:3404 |
Coffin-Lowry Syndrome |
|
Hyperextensibility of the finger joints, Short metacarpal, Delayed closure of the anterior fontan... |
OMIM:303600 |
Simpson-Golabi-Behmel Syndrome |
|
Vertebral fusion, Finger syndactyly, Congenital hip dislocation, Toe syndactyly, Camptodactyly of... |
ORPHA:373 |
Ear-Patella-Short Stature Syndrome |
|
Camptodactyly of finger, Aplastic clavicle, Craniosynostosis, Elbow dislocation, Cryptorchidism, ... |
ORPHA:2554 |
Autosomal Recessive Malignant Osteopetrosis |
|
Bowing of the long bones, Craniosynostosis, Splenomegaly, Abnormal rib morphology, Lymphadenopath... |
ORPHA:667 |
Vater/Vacterl Association |
|
Syndactyly, Absent radius, Short thumb, Hypoplasia of the radius, Preaxial polydactyly, Abnormal ... |
OMIM:192350 |
Monosomy 9P |
|
Proximal placement of thumb, Short neck, Abnormality of the tarsal bones, Cryptorchidism, Postaxi... |
ORPHA:261112 |
Pagod Syndrome |
|
Abnormality of the spleen, Abnormal testis morphology, Abnormal rib morphology, Abnormal clavicle... |
ORPHA:991 |
Trisomy 18 |
|
Camptodactyly of finger, Cryptorchidism, Postaxial hand polydactyly, Abnormal rib morphology, Dev... |
ORPHA:3380 |
Smith-Lemli-Opitz Syndrome |
|
Finger syndactyly, Proximal placement of thumb, Short neck, Cryptorchidism, Kyphosis, Split hand,... |
ORPHA:818 |
Mucopolysaccharidosis Type 3 |
|
Abnormal clavicle morphology, Avascular necrosis of the capital femoral epiphysis, Splenomegaly, ... |
ORPHA:581 |
Hereditary Acrokeratotic Poikiloderma |
|
Finger syndactyly, Camptodactyly of finger, Abnormal rib morphology, Abnormal hip bone morphology... |
ORPHA:2907 |
Kindler Epidermolysis Bullosa |
|
Finger syndactyly, Camptodactyly of finger, Abnormal rib morphology, Anemia, Short 4th metacarpal... |
ORPHA:2908 |
Oculocerebrorenal Syndrome Of Lowe |
|
Hyperparathyroidism, Cryptorchidism, Thrombocytopenia, Kyphosis, Abnormal rib morphology, Hip dis... |
ORPHA:534 |
Alagille Syndrome 1 |
|
Hypoplasia of the ulna, Abnormal rib morphology, Hemivertebrae, Butterfly vertebral arch, Short d... |
OMIM:118450 |
Townes-Brocks Syndrome |
|
Broad hallux phalanx, Toe syndactyly, Cryptorchidism, Preaxial hand polydactyly, Partial duplicat... |
ORPHA:857 |
Charge Syndrome |
|
Cryptorchidism, Abnormal tibia morphology, Abnormal rib morphology, Hemivertebrae, Bifid femur, S... |
ORPHA:138 |
Charge Syndrome |
|
Hypoparathyroidism, Hypoplasia of the ulna, Decreased response to growth hormone stimulation test... |
OMIM:214800 |