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Gene: Cdx1 MGI:88360

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Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
caudal type homeobox 1
Synonyms:
Cdx,  Cdx-1

Order Alleles

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by Cdx1 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Cdx1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Cervical Rib
Cervical ribs OMIM:117900
Spondylocostal Dysostosis 2, Autosomal Recessive
Short neck, Vertebral clefting, Rib fusion, Hemivertebrae, Vertebral segmentation defect OMIM:608681
Spondylocostal Dysostosis 3, Autosomal Recessive
Contracture of the proximal interphalangeal joint of the 2nd finger, Kyphosis, Hypoplasia of the ... OMIM:609813
Spondylocostal Dysostosis 5
Vertebral fusion, Low back pain, Missing ribs, Short neck, Hemivertebrae, Pectus carinatum, Poste... OMIM:122600
Cervical Vertebral Dysplasia
Cervical vertebral dysplasia, Cervical vertebral facet hypoplasia, Anterior atlanto-occipital dis... OMIM:118005
Vertebral Fusion, Posterior Lumbosacral, With Blepharoptosis
Posterior fusion of lumbosacral vertebrae OMIM:192800
Spondylocostal Dysostosis 1, Autosomal Recessive
Back pain, Vertebral fusion, Block vertebrae, Abnormal odontoid process morphology, Kyphoscoliosi... OMIM:277300
Scheuermann Disease
Kyphosis, Osteochondrosis, Morbus Scheuermann OMIM:181440
Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome
Sacral dimple, Tarsal synostosis, Joint stiffness, Abnormal form of the vertebral bodies, Posteri... ORPHA:2064
Dwarfism With Tall Vertebrae
Increased vertebral height OMIM:126950
Microcephaly With Cervical Spine Fusion Anomalies
Vertebral fusion, Spinal instability OMIM:251250
Autosomal Dominant Spondylocostal Dysostosis
Short neck, Missing ribs, Hyperlordosis, Abnormal sacrum morphology, Short thorax, Abnormal rib m... ORPHA:1797
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Delayed skeletal maturation, Abnormality of the elbow, Abnormal rib morphology, Pectus carinatum,... ORPHA:3268
Diaphanospondylodysostosis
Short neck, Missing ribs, Short thorax, Enlarged thorax, Absent or minimally ossified vertebral b... ORPHA:66637
Poland Syndrome
Sprengel anomaly, Rib fusion, Short ribs, Hemivertebrae OMIM:173800
Klippel-Feil Syndrome 3, Autosomal Dominant
Thoracic scoliosis, Cervical C3/C4 vertebral fusion, Cervical C5/C6 vertebrae fusion OMIM:613702
Sprengel Deformity
Rib segmentation abnormalities, Cervical segmentation defect, Hemivertebrae, Scoliosis, Sprengel ... OMIM:184400
Spondylocostal Dysostosis 6, Autosomal Recessive
Cervical kyphosis, Hemivertebrae, Spinal canal stenosis, Scoliosis, Butterfly vertebrae OMIM:616566
Brachyolmia, Maroteaux Type
Pectus excavatum, Short thorax, Abnormal form of the vertebral bodies, Platyspondyly, Scoliosis ORPHA:93302
Neurogenic Thoracic Outlet Syndrome
Abnormal rib morphology ORPHA:100073
Primary Basilar Invagination
Abnormality of the cervical spine, Abnormal vertebral morphology, Short neck ORPHA:2285
Becker Nevus Syndrome
Pectus excavatum, Kyphosis, Rib fusion, Pectus carinatum, Supernumerary ribs, Scoliosis, Spina bi... ORPHA:64755
Ankylosing Vertebral Hyperostosis With Tylosis
Vertebral hyperostosis OMIM:106400
Heart Defects-Limb Shortening Syndrome
Accelerated skeletal maturation, Kyphosis, Abnormal rib morphology, Abnormal form of the vertebra... ORPHA:1354
Autosomal Dominant Brachyolmia
Increased vertebral height, Platyspondyly, Short thorax, Kyphoscoliosis ORPHA:93304
Endosteal Hyperostosis, Worth Type
Sclerotic vertebral body, Generalized osteosclerosis, Abnormal rib morphology, Abnormal form of t... ORPHA:2790
Kyphomelic Dysplasia
Anterior rib cupping, Missing ribs, Lateral clavicle hook, Joint stiffness, Short thorax, Limitat... ORPHA:1801
Spondylometaphyseal Dysplasia, A4 Type
Platyspondyly, Limitation of joint mobility, Flared, irregular rib ends ORPHA:168555
Spondylocostal Dysostosis 4, Autosomal Recessive
Vertebral fusion, Abnormal odontoid process morphology, Block vertebrae, Missing ribs, Pectus exc... OMIM:613686
Multiple Synostoses Syndrome 2
Vertebral fusion, Tarsal synostosis, Humeroradial synostosis, Finger symphalangism, Proximal symp... OMIM:610017
Isolated Klippel-Feil Syndrome
Short neck, Abnormal sacrum morphology, Abnormal rib morphology, Abnormal shoulder morphology, Ab... ORPHA:2345
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Superior rib anomalies, Abnormality of the cervical spine OMIM:307500
Osteomesopyknosis
Increased bone mineral density, Sclerotic vertebral body, Kyphosis, Abnormal form of the vertebra... ORPHA:2777
Osteoarthritis With Mild Chondrodysplasia
Heberden's node, Joint stiffness, Knee osteoarthritis, Schmorl's node, Irregular vertebral endpla... OMIM:604864
Second Metatarsal-Metacarpal Syndrome
Platyspondyly, Synostosis of carpals/tarsals OMIM:269630
Thoracomelic Dysplasia
Bell-shaped thorax, Short ribs OMIM:273740
Vertebral Hypoplasia With Lumbar Kyphosis
Vertebral hypoplasia, Lumbar kyphosis OMIM:192900
Osteogenesis Imperfecta, Type Ix
Recurrent fractures, Beaded ribs, Pectus excavatum, Kyphosis, Multiple prenatal fractures, Pectus... OMIM:259440
Acromesomelic Dysplasia, Maroteaux Type
Ovoid vertebral bodies, Hyperlordosis, Joint stiffness, Kyphosis, Abnormal form of the vertebral ... ORPHA:40
Spondyloepiphyseal Dysplasia Tarda, Kohn Type
Abnormality of the knee, Restricted large joint movement, Platyspondyly, Abnormality of the ankle... ORPHA:163665
Thoracic Dysostosis, Isolated
Pectus excavatum, Short ribs, Bell-shaped thorax OMIM:187750
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Vertebral fusion, Sacral dimple, Short thorax, Vertebral segmentation defect OMIM:618845
Becker Nevus Syndrome
Pectus excavatum, Cervical ribs, Hemivertebrae, Scoliosis OMIM:604919
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B
Fused thoracic vertebrae, Tarsal synostosis, Short neck, Flexion contracture, Antecubital pterygi... OMIM:618469
Galactosialidosis
Abnormality of the vertebral column, Abnormal vertebral morphology ORPHA:351
Klippel-Feil Syndrome 2, Autosomal Recessive
Short neck, Fused cervical vertebrae, Scoliosis, Cervical C2/C3 vertebral fusion, Sprengel anomaly OMIM:214300
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type
Lumbar hyperlordosis, Decreased hip abduction, Pectus carinatum, Genu valgum, Irregular vertebral... OMIM:609223
Autosomal Recessive Spondylocostal Dysostosis
Rib segmentation abnormalities, Abnormal intervertebral disk morphology, Camptodactyly of finger,... ORPHA:2311
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome
Fused cervical vertebrae, Abnormal sacrum morphology, Thoracic hemivertebrae, Scoliosis ORPHA:1436
Acrodysplasia Scoliosis
Vertebral segmentation defect, Spina bifida occulta, Scoliosis ORPHA:2956
Thoracolaryngopelvic Dysplasia
Irregular chondrocostal junctions, Bell-shaped thorax, Irregular vertebral endplates, Short ribs,... OMIM:187760
Mesomelic Dysplasia, Kantaputra Type
Camptodactyly of finger, Tarsal synostosis, Abnormal rib morphology, Vertebral segmentation defec... ORPHA:1836
Osteogenesis Imperfecta, Type Xv
Recurrent fractures, Thin ribs, Platyspondyly, Bowing of limbs due to multiple fractures, Scolios... OMIM:615220
Femoral-Facial Syndrome
Abnormal sacrum morphology, Rib fusion, Abnormal rib morphology, Vertebral segmentation defect, R... ORPHA:1988
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods
Fusion of midcervical facet joints, Widening of cervical spinal canal, Cervical vertebral bodies ... OMIM:606842
Metatropic Dysplasia
Abnormal intervertebral disk morphology, Camptodactyly of finger, Abnormal enchondral ossificatio... ORPHA:2635
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Vertebral fusion, Block vertebrae, Short neck, Missing ribs, Rib fusion, Hemivertebrae, Thin ribs... OMIM:271520
Spondylocamptodactyly Syndrome
Platyspondyly, Scoliosis ORPHA:3180
Kuskokwim Syndrome
Abnormal clavicle morphology, Aplasia/Hypoplasia of the patella, Joint stiffness, Abnormal form o... ORPHA:1149
Mental Retardation, Skeletal Dysplasia, And Abducens Palsy
Fused cervical vertebrae, Prominent metopic ridge, Thoracic hemivertebrae, Scoliosis OMIM:309620
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2
Vertebral segmentation defect, Abnormal rib morphology, Short neck ORPHA:2578
Spondyloepiphyseal Dysplasia Tarda With Mental Retardation
Platyspondyly, Anterior beaking of lumbar vertebrae OMIM:271620
Brachyolmia Type 2
Platyspondyly OMIM:613678
Spondylosis, Cervical
Spondylolysis, Spina bifida occulta, Cervical spondylosis, Spondylolisthesis OMIM:184300
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome
Abnormal rib morphology ORPHA:2435
Acropectorovertebral Dysplasia
Capitate-hamate fusion, Abnormal thorax morphology, Spina bifida occulta at S1, Spina bifida occu... OMIM:102510
Klippel-Feil Syndrome 1, Autosomal Dominant
Short neck, Abnormal rib morphology, Scoliosis, Cervical C2/C3 vertebral fusion, Sprengel anomaly... OMIM:118100
Wildervanck Syndrome
Fused cervical vertebrae OMIM:314600
Spondylometaphyseal Dysplasia, Type A4
Ovoid vertebral bodies, Enlargement of the costochondral junction, Flat acetabular roof, Pectus c... OMIM:609052
Spondyloepiphyseal Dysplasia, Maroteaux Type
Platyspondyly OMIM:184095
Myotonia With Skeletal Abnormalities And Mental Retardation
Kyphoscoliosis, Vertebral wedging, Genu valgum, Bell-shaped thorax, Pectus carinatum OMIM:255710
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A
Barrel-shaped chest, Vertebral fusion, Hip contracture, Elbow contracture, Multiple pterygia, Sho... OMIM:178110
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Abnormal clavicle morphology, Hyperlordosis, Pectus excavatum, Short neck, Kyphosis, Abnormal rib... ORPHA:2522
Cerebrofaciothoracic Dysplasia
Short neck, Rib fusion, Hemivertebrae, Vertebral segmentation defect, Narrow chest, Bifid ribs, S... ORPHA:1394
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome
Short neck, Abnormal rib morphology, Hemivertebrae, Abnormal form of the vertebral bodies, Abnorm... ORPHA:2234
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3
Joint laxity, Short neck, Multiple joint dislocation, Hip dislocation, Thin ribs, Irregular verte... OMIM:618395
Developmental And Speech Delay Due To Sox5 Deficiency
Thoracic kyphoscoliosis, Vertebral fusion, Lumbar hyperlordosis, Pectus carinatum, Scoliosis, But... ORPHA:313892
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 2
Pectus excavatum, Thoracic scoliosis, Shield chest, Short neck OMIM:616994
Osteogenesis Imperfecta, Type Vi
Joint laxity, Protrusio acetabuli, Vertebral compression fracture, Increased susceptibility to fr... OMIM:613982
Bruck Syndrome 1
Joint laxity, Hip contracture, Protrusio acetabuli, Ankle flexion contracture, Kyphosis, Osteopor... OMIM:259450
Pontine Tegmental Cap Dysplasia
Ankle clonus, Rib fusion, Hemivertebrae, Scoliosis OMIM:614688
Multiple Pterygium Syndrome, X-Linked
Joint dislocation, Vertebral fusion, Abnormal cervical curvature, Multiple pterygia, Flexion cont... OMIM:312150
Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant
Barrel-shaped chest, Lumbar hyperlordosis, Kyphoscoliosis, Short neck, Avascular necrosis of the ... OMIM:184100
Spondyloepimetaphyseal Dysplasia, Irapa Type
Lumbar hyperlordosis, Hypoplastic sacrum, Enlargement of the costochondral junction, Osteoarthrit... OMIM:271650
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly
Lateral clavicle hook, Trident acetabulum, Narrow chest, Short ribs, Acetabular spurs, Horizontal... OMIM:617405
Metatropic Dysplasia
Enlarged joints, Flexion contracture, Long coccyx, Narrow chest, Flaring of rib cage, Anisospondy... OMIM:156530
Spondylometaphyseal Dysplasia, Axial
Anterior rib cupping, Platyspondyly, Narrow chest, Scoliosis, Thoracic hypoplasia OMIM:602271
Spondyloepimetaphyseal Dysplasia, Irapa Type
Osteoarthritis, Limitation of joint mobility, Abnormal rib morphology, Abnormal carpal morphology... ORPHA:93351
Multiple Pterygium Syndrome, Lethal Type
Joint dislocation, Vertebral fusion, Abnormal cervical curvature, Multiple pterygia, Flexion cont... OMIM:253290
Lethal Congenital Contracture Syndrome Type 1
Recurrent fractures, Short neck, Limitation of joint mobility, Abnormal rib morphology, Abnormali... ORPHA:1486
Brachydactyly, Type B1
Vertebral fusion, Hypoplastic sacrum, Thoracolumbar scoliosis, Hemivertebrae, Camptodactyly, Join... OMIM:113000
Familial Congenital Mirror Movements
Fused cervical vertebrae ORPHA:238722
Multiple Pterygium Syndrome, Escobar Variant
Multiple joint contractures, Short neck, Flexion contracture, Knee flexion contracture, Intercrur... OMIM:265000
Ring Chromosome 21 Syndrome
Fused thoracic vertebrae, Thoracic hemivertebrae, Abnormal thorax morphology, Scoliosis ORPHA:1445
Keratoconus Posticus Circumscriptus
Limited elbow extension and supination, Abnormal vertebral segmentation and fusion, Short neck OMIM:244600
Spinal Dysplasia, Anhalt Type
Osteoarthritis of the small joints of the hand, Thoracolumbar scoliosis, Absent spinous processes... OMIM:601344
Isolated Hemihyperplasia
Asymmetry of the thorax, Scoliosis ORPHA:2128
White Forelock With Malformations
Delayed skeletal maturation, Abnormal rib morphology, Joint hyperflexibility, Sprengel anomaly, S... ORPHA:2475
Kbg Syndrome
Vertebral fusion, Persistent open anterior fontanelle, Short neck, Delayed skeletal maturation, C... ORPHA:2332
Hypersulfaturia
Costochondral pain OMIM:620372
Laryngotracheoesophageal Cleft Type 4
Abnormal rib morphology, Abnormal form of the vertebral bodies ORPHA:93941
Greenberg Dysplasia
Abnormally ossified vertebrae, Abnormal pelvis bone ossification, Anterior rib punctate calcifica... ORPHA:1426
Fibrochondrogenesis 2
Cupped ribs, Bell-shaped thorax, Platyspondyly, Short ribs, Thoracic hypoplasia OMIM:614524
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Lumbar hyperlordosis, Cupped ribs, Flat acetabular roof, Irregular vertebral endplates, Platyspon... OMIM:609616
Ophthalmoplegia, External, With Rib And Vertebral Anomalies
Missing ribs, Pectus excavatum, Pectus carinatum, Short ribs, Scoliosis OMIM:618155
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Abnormal clavicle morphology, Short neck, Abnormal rib morphology, Platyspondyly, Narrow chest, D... ORPHA:93267
Congenital Disorder Of Glycosylation, Type Iig
Osteopenia, Thoracic scoliosis, Kyphoscoliosis, Short neck, Rib fusion, Posterior rib gap, Verteb... OMIM:611209
Wildervanck Syndrome
Fused cervical vertebrae, Short neck ORPHA:3456
Kniest Dysplasia
Arthropathy, Enlarged joints, Short neck, Joint stiffness, Hypoplasia of the odontoid process, De... ORPHA:485
Mayer-Rokitansky-Küster-Hauser Syndrome
Vertebral fusion, Abnormal sacrum morphology, Abnormal form of the vertebral bodies, Vertebral se... ORPHA:3109
Thoracomelic Dysplasia
Hyperlordosis, Short neck, Elbow dislocation, Genu valgum, Bell-shaped thorax, Joint hyperflexibi... ORPHA:1803
Autosomal Recessive Multiple Pterygium Syndrome
Camptodactyly of finger, Multiple pterygia, Pectus excavatum, Limitation of joint mobility, Rib f... ORPHA:2990
Proximal 16P11.2 Microdeletion Syndrome
Craniosynostosis, Rib fusion, Abnormal vertebral morphology, Scoliosis ORPHA:261197
Septopreoptic Holoprosencephaly
Abnormal rib morphology, Abnormal vertebral morphology ORPHA:280195
Osteogenesis Imperfecta, Type Xviii
Joint laxity, Recurrent fractures, Joint hypermobility, Thin ribs, Biconcave vertebral bodies, Wo... OMIM:617952
Mucolipidosis Iii Gamma
Hyperlordosis, Short neck, Kyphosis, Joint stiffness, Pectus carinatum, Genu valgum, Abnormal rib... OMIM:252605
Axial Spondylometaphyseal Dysplasia
Osteopenia, Aplasia/Hypoplasia of the ribs, Thoracic scoliosis, Aplasia/Hypoplasia of the vertebr... ORPHA:168549
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies
Pectus excavatum, Hypoplastic distal segments of scapulae, Abnormal rib morphology, Joint hypermo... OMIM:602196
Juberg-Hayward Syndrome
Abnormality of the elbow, Abnormal rib morphology, Radioulnar synostosis, Scoliosis, Abnormality ... ORPHA:2319
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
Short neck, Pectus carinatum, Reduced bone mineral density, Abnormal bone ossification, Abnormal ... ORPHA:93315
Spondylometaphyseal Dysplasia, Kozlowski Type
Enlarged joints, Kyphoscoliosis, Short neck, Hypoplasia of the odontoid process, Delayed skeletal... OMIM:184252
Microphthalmia, Syndromic 3
Vertebral fusion, Missing ribs, Rib fusion, Hemivertebrae, Supernumerary ribs, Butterfly vertebra... OMIM:206900
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Abnormal rib morphology, Hemivertebrae, Abnormal form of the vertebral bodies, Scoliosis, Sprenge... ORPHA:2180
Mosaic Trisomy 14
Camptodactyly of finger, Abnormal rib morphology, Narrow chest, Short neck ORPHA:1703
Osteogenesis Imperfecta, Type Xxi
Barrel-shaped chest, Recurrent fractures, Pectus excavatum, Osteoporosis, Bell-shaped thorax, Pla... OMIM:619131
Spondyloepiphyseal Dysplasia Tarda, X-Linked
Barrel-shaped chest, Back pain, Lumbar hyperlordosis, Short neck, Kyphosis, Limitation of joint m... OMIM:313400
Diastrophic Dysplasia
Joint dislocation, Abnormal clavicle morphology, Increased bone mineral density, Camptodactyly of... ORPHA:628
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Missing ribs, Abnormal rib morphology, Hemivertebrae, Abnormal form of the vertebral bodies, Join... ORPHA:2759
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome
Vertebral fusion, Elbow dislocation, Kyphosis, Hemivertebrae, Abnormal form of the vertebral bodi... ORPHA:2916
Spondyloepimetaphyseal Dysplasia, Strudwick Type
Anterior rib cupping, Hyperlordosis, Hypoplasia of the odontoid process, Pectus carinatum, Genu v... OMIM:184250
Mucopolysaccharidosis Type 4
Joint dislocation, Hyperlordosis, Short neck, Kyphosis, Delayed skeletal maturation, Short thorax... ORPHA:582
Idiopathic Juvenile Osteoporosis
Recurrent fractures, Kyphosis, Bone pain, Osteoporosis, Vertebral compression fracture ORPHA:85193
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type
Lumbar hyperlordosis, Ovoid vertebral bodies, Pectus excavatum, Limited elbow extension, Flat ace... OMIM:608728
Osteogenesis Imperfecta, Type Ii
Recurrent fractures, Beaded ribs, Multiple prenatal fractures, Absent ossification of calvaria, T... OMIM:166210
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Vertebral fusion, Elbow contracture, Hyperlordosis, Kyphosis, Achilles tendon contracture, Scoliosis OMIM:606612
Osteogenesis Imperfecta, Type Iii
Recurrent fractures, Protrusio acetabuli, Severe generalized osteoporosis, Multiple prenatal frac... OMIM:259420
Mucopolysaccharidosis, Type X
Irregular acetabular roof, Spatulate ribs, Hyperlordosis, Broad clavicles, Genu valgum, Platyspon... OMIM:619698
Kbg Syndrome
Vertebral fusion, Short neck, Delayed skeletal maturation, Rib fusion, Vertebral arch anomaly, Ce... OMIM:148050
Osteogenesis Imperfecta, Type Xvi
Osteopenia, Multiple rib fractures, Recurrent fractures, Beaded ribs, Platyspondyly, Decreased ca... OMIM:616229
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Sprengel anomaly, Abnormality of the vertebral column, Abnormal rib morphology OMIM:601076
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
Achondrogenesis Type 1B
Abnormal enchondral ossification, Short neck, Short thorax, Abnormal rib morphology, Narrow chest ORPHA:93298
Spondyloepimetaphyseal Dysplasia, Missouri Type
Irregular sclerotic endplates, Osteoarthritis, Delayed skeletal maturation, Platyspondyly, Flared... OMIM:602111
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Osteopenia, Osteomyelitis, Osteolysis, Fused cervical vertebrae, Joint swelling, Flaring of rib c... OMIM:612852
Holt-Oram Syndrome
Abnormal clavicle morphology, Down-sloping shoulders, Joint stiffness, Pectus excavatum, Kyphosis... ORPHA:392
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Ovoid vertebral bodies, Joint stiffness, Cupped ribs, Platyspondyly, Scoliosis, Severe platyspondyly OMIM:608940
Craniodiaphyseal Dysplasia
Abnormal rib morphology ORPHA:1513
Grant Syndrome
Joint dislocation, Abnormal rib morphology, Decreased skull ossification, Joint hyperflexibility,... ORPHA:2097
Gorlin Syndrome
Vertebral fusion, Vertebral wedging, Hemivertebrae, Scoliosis ORPHA:377
Aicardi Syndrome
Block vertebrae, Missing ribs, Rib fusion, Supernumerary ribs, Scoliosis, Bifid ribs, Butterfly v... ORPHA:50
Mucopolysaccharidosis, Type Iva
Joint laxity, Ulnar deviation of the wrist, Ovoid vertebral bodies, Short neck, Hyperlordosis, Hy... OMIM:253000
Caudal Regression Syndrome
Missing ribs, Joint stiffness, Aplasia/Hypoplasia of the sacrum, Hypoplastic vertebral bodies, Sc... ORPHA:3027
Cole-Carpenter Syndrome
Recurrent fractures, Kyphosis, Abnormal rib morphology, Abnormal form of the vertebral bodies, Jo... ORPHA:2050
Mucopolysaccharidosis, Type Iiia
Thickened ribs, Joint stiffness, Ovoid thoracolumbar vertebrae, Scoliosis, Dense calvaria OMIM:252900
Infantile-Onset X-Linked Spinal Muscular Atrophy
Hip contracture, Interphalangeal joint contracture of finger, Kyphoscoliosis, Ankle flexion contr... ORPHA:1145
Fibrochondrogenesis
Hypoplastic scapulae, Camptodactyly of finger, Short neck, Abnormal rib morphology, Abnormal form... ORPHA:2021
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Vertebral fusion, Hyperlordosis, Kyphosis, Achilles tendon contracture, Scoliosis OMIM:607155
Cog1-Cdg
Osteopenia, Irregularity of vertebral bodies, Kyphoscoliosis, Short neck, Rib fusion, Posterior r... ORPHA:263508
Alkaptonuria
Arthropathy, Vertebral fusion, Low back pain, Kyphosis, Limited shoulder movement, Arthritis, Lim... OMIM:203500
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Lateral clavicle hook, Bell-shaped thorax, Thoracic dysplasia, Narrow chest, Horizontal ribs OMIM:615633
Short Stature And Facioauriculothoracic Malformations
Abnormal odontoid process morphology, Short neck, Pectus excavatum, Pectus carinatum, Cervical ribs OMIM:609654
Schneckenbecken Dysplasia
Hypoplastic scapulae, Anterior rib cupping, Ovoid vertebral bodies, Short neck, Lateral clavicle ... OMIM:269250
Otopalatodigital Syndrome Type 1
Increased bone mineral density, Elbow dislocation, Limitation of joint mobility, Abnormal vertebr... ORPHA:90650
Thanatophoric Dysplasia, Type Ii
Small abnormally formed scapulae, Wide-cupped costochondral junctions, Platyspondyly, Short ribs,... OMIM:187601
Phaver Syndrome
Camptodactyly of finger, Joint stiffness, Abnormal rib morphology, Abnormal form of the vertebral... ORPHA:2876
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
11 pairs of ribs, Platyspondyly, Decreased skull ossification, Thin ribs OMIM:300863
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia
Long clavicles, Lateral clavicle hook, Elbow dislocation, Anterior vertebral fusion, Shoulder dis... OMIM:171480
Aarskog-Scott Syndrome
Genu recurvatum, Camptodactyly of finger, Short neck, Pectus excavatum, Joint hyperflexibility, A... ORPHA:915
Frontometaphyseal Dysplasia 1
Scapular winging, Dislocated radial head, Limited elbow movement, Interphalangeal joint contractu... OMIM:305620
Cooper-Jabs Syndrome
Camptodactyly of finger, Missing ribs, Abnormal rib morphology, Reduced bone mineral density, Joi... ORPHA:1488
Spondylocarpotarsal Synostosis Syndrome
Vertebral fusion, Scapular winging, Block vertebrae, Tarsal synostosis, Short neck, Hyperlordosis... OMIM:272460
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism
Thoracolumbar scoliosis, Short neck, Flexion contracture, Cervical C2/C3 vertebral fusion, Acetab... OMIM:616549
Aicardi Syndrome
Block vertebrae, Missing ribs, Hemivertebrae, Rib fusion, Supernumerary ribs, Bifid ribs, Scolios... OMIM:304050
Verheij Syndrome
Joint laxity, Vertebral fusion, Short neck, Hemivertebrae, Hip dislocation, Scoliosis OMIM:615583
Pseudoachondroplasia
Joint laxity, Lumbar hyperlordosis, Genu recurvatum, Limited hip extension, Spatulate ribs, Ulnar... OMIM:177170
Mucopolysaccharidosis, Type Iiib
Thickened ribs, Ovoid thoracolumbar vertebrae, Dense calvaria, Joint stiffness OMIM:252920
Lamb-Shaffer Syndrome
Fused cervical vertebrae, Thoracic kyphosis, Scoliosis ORPHA:530983
Achondrogenesis Type 1A
Multiple rib fractures, Recurrent fractures, Short neck, Abnormal enchondral ossification, Short ... ORPHA:93299
Femoral-Facial Syndrome
Limited elbow movement, Missing ribs, Absent vertebra, Rib fusion, Hemivertebrae, Humeroradial sy... OMIM:134780
Basal Cell Nevus Syndrome 1
Vertebral fusion, Down-sloping shoulders, Kyphoscoliosis, Hemivertebrae, Irregular ossification o... OMIM:109400
Robinow Syndrome, Autosomal Recessive 1
Joint laxity, Vertebral fusion, Hypoplastic sacrum, Thoracolumbar scoliosis, Short neck, Pectus e... OMIM:268310
Spondyloepimetaphyseal Dysplasia, Shohat Type
Joint laxity, Lumbar hyperlordosis, Short neck, Delayed epiphyseal ossification, Genu varum, Bell... OMIM:602557
Mosaic Trisomy 20
Vertebral fusion, Down-sloping shoulders, Kyphosis, Spinal canal stenosis, Fused cervical vertebr... ORPHA:1724
Congenital Pseudoarthrosis Of The Clavicle
Congenital pseudoarthrosis of the clavicle, Cervical ribs ORPHA:66630
Melnick-Needles Syndrome
Delayed cranial suture closure, Short thorax, Abnormal rib morphology, Hip dislocation, Osteolyti... ORPHA:2484
3M Syndrome
Scapular winging, Congenital hip dislocation, Short neck, Hyperlordosis, Increased vertebral heig... ORPHA:2616
Dyggve-Melchior-Clausen Disease
Glenoid fossa hypoplasia, Short neck, Horizontal inferior border of scapula, Hypoplasia of the od... ORPHA:239
Mucopolysaccharidosis, Type Iiic
Thickened ribs, Kyphoscoliosis, Joint stiffness, Ovoid thoracolumbar vertebrae, Beaking of verteb... OMIM:252930
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Disc-like vertebral bodies, Ovoid vertebral bodies, Short neck, Flat acetabular roof, Thin ribs, ... OMIM:151210
Larsen Syndrome
Joint laxity, Vertebral fusion, Cervical kyphosis, Pectus excavatum, Elbow dislocation, Dislocate... OMIM:150250
Cole-Carpenter Syndrome 2
Osteopenia, Wide cranial sutures, Recurrent fractures, Pectus excavatum, Kyphosis, Thin ribs, Pla... OMIM:616294
Ehlers-Danlos Syndrome, Classic-Like, 2
Osteopenia, Thoracic scoliosis, Short neck, Facet joint arthrosis, Osteoarthritis, Generalized jo... OMIM:618000
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Abnormally ossified vertebrae, Abnormal rib morphology ORPHA:3035
Stapes Ankylosis With Broad Thumbs And Toes
Fused cervical vertebrae, Proximal/middle symphalangism of 5th finger OMIM:184460
Dyggve-Melchior-Clausen Disease
Short neck, Flat glenoid fossa, Pectus carinatum, Thoracic kyphosis, Multicentric ossification of... OMIM:223800
Osteogenesis Imperfecta, Type Viii
Barrel-shaped chest, Osteopenia, Joint laxity, Recurrent fractures, Multiple prenatal fractures, ... OMIM:610915
Fibrodysplasia Ossificans Progressiva
Small cervical vertebral bodies, Progressive cervical vertebral spine fusion, Ectopic ossificatio... OMIM:135100
Metaphyseal Chondrodysplasia, Schmid Type
Lumbar hyperlordosis, Anterior rib cupping, Osteosclerosis of ribs, Irregular vertebral endplates... ORPHA:174
Cervical Ribs, Sprengel Anomaly, Anal Atresia, And Urethral Obstruction
Sprengel anomaly, Cervical ribs, Thoracolumbar scoliosis OMIM:601389
Jeune Syndrome
Abnormal clavicle morphology, Short thorax, Abnormal rib morphology, Abnormal sternum morphology,... ORPHA:474
Mucopolysaccharidosis Type 6
Ovoid vertebral bodies, Joint stiffness, Short neck, Kyphosis, Genu valgum, Broad ribs ORPHA:583
Achondrogenesis, Type Ia
Barrel-shaped chest, Hypoplastic scapulae, Hypoplastic sacrum, Beaded ribs, Short neck, Abnormal ... OMIM:200600
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Pectus excavatum, Fused cervical vertebrae, Sprengel anomaly, Spina bifida occulta, Butterfly ver... OMIM:619227
Autosomal Recessive Robinow Syndrome
Sacral dimple, Camptodactyly of finger, Short neck, Pectus excavatum, Kyphosis, Elbow dislocation... ORPHA:1507
Craniodiaphyseal Dysplasia, Autosomal Dominant
Thickened ribs, Craniofacial osteosclerosis, Diaphyseal sclerosis, Cortical sclerosis OMIM:122860
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome
Sacral dimple, Rib fusion ORPHA:544488
Holzgreve Syndrome
Abnormally ossified vertebrae, Abnormal rib morphology, Joint stiffness ORPHA:2167
Wolf-Hirschhorn Syndrome
Rib segmentation abnormalities, Sacral dimple, Kyphosis, Abnormal thorax morphology, Delayed skel... ORPHA:280
10Q22.3Q23.3 Microduplication Syndrome
Abnormal clavicle morphology, Abnormal rib morphology ORPHA:276422
Vertebral Hypersegmentation And Orofacial Anomalies
Scapular winging, Pectus excavatum, Supernumerary ribs, Six lumbar vertebrae, Joint hypermobility OMIM:619122
Lateral Meningocele Syndrome
Vertebral fusion, Short neck, Pectus excavatum, Kyphosis, Sclerosis of skull base, Scoliosis, Wor... OMIM:130720
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome
Hyperlordosis, Delayed skeletal maturation, Limitation of joint mobility, Abnormal rib morphology... ORPHA:3068
Thoracic Outlet Syndrome
Abnormal rib morphology ORPHA:97330
Prune Belly Syndrome
Congenital hip dislocation, Pectus excavatum, Abnormal rib morphology, Vertebral segmentation def... ORPHA:2970
Spondyloepimetaphyseal Dysplasia, Shohat Type
Joint laxity, Hyperlordosis, Short neck, Delayed epiphyseal ossification, Premature osteoarthriti... ORPHA:93352
Osteogenesis Imperfecta, Type X
Osteopenia, Multiple rib fractures, Thoracic scoliosis, Joint laxity, Generalized joint laxity, T... OMIM:613848
Thin Ribs-Tubular Bones-Dysmorphism Syndrome
Abnormal rib morphology ORPHA:1506
Dysosteosclerosis
Osteopenia, Sclerosis of hand bone, Sclerotic scapulae, Delayed closure of the anterior fontanell... OMIM:224300
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome
Kyphosis, Abnormal rib morphology, Short neck, Pectus carinatum ORPHA:3082
Cardiospondylocarpofacial Syndrome
Joint laxity, Tarsal synostosis, Delayed skeletal maturation, Rib fusion, Fused cervical vertebra... OMIM:157800
Thrombocytopenia-Absent Radius Syndrome
Aplasia/Hypoplasia of the patella, Hip dislocation, Fused cervical vertebrae, Cervical ribs, Pate... ORPHA:3320
Brachytelephalangic Chondrodysplasia Punctata
Stippling of the epiphyses of the distal phalanges of the hand, Calcaneal epiphyseal stippling, C... ORPHA:79345
Axial Mesodermal Dysplasia Spectrum
Abnormality of the knee, Short neck, Missing ribs, Abnormal rib morphology, Abnormal form of the ... ORPHA:1834
Mucolipidosis Iii Alpha/Beta
Craniosynostosis, Irregular carpal bones, Short ribs, Scoliosis, Broad ribs, Shallow acetabular f... OMIM:252600
Three M Syndrome 2
Scapular winging, Lumbar hyperlordosis, Short neck, Hyperlordosis, Delayed skeletal maturation, S... OMIM:612921
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Joint hyperflexibility, Decreased calvarial ossification, Abnormal rib morphology, Recurrent frac... ORPHA:2772
Koolen-De Vries Syndrome
Vertebral fusion, Pectus excavatum, Kyphosis, Hip dislocation, Joint hyperflexibility, Vertebral ... ORPHA:96169
Cenani-Lenz Syndrome
Elbow dislocation, Abnormal rib morphology, Hip dislocation, Abnormal form of the vertebral bodie... ORPHA:3258
Fibrochondrogenesis 1
Hypoplastic scapulae, Long clavicles, Anterior rib cupping, Short neck, Widely patent sagittal su... OMIM:228520
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy
Anterior rib cupping, Kyphoscoliosis, Short neck, Hypoplasia of the odontoid process, Delayed ske... OMIM:300232
Lethal Kniest-Like Dysplasia
Anterior rib cupping, Short neck, Hypoplastic vertebral bodies, Coronal cleft vertebrae, Platyspo... ORPHA:2347
Mucopolysaccharidosis, Type Ivb
Joint laxity, Ulnar deviation of the wrist, Ovoid vertebral bodies, Hyperlordosis, Joint stiffnes... OMIM:253010
Achondrogenesis, Type Ii
Barrel-shaped chest, Absent vertebral body mineralization, Short ribs, Horizontal ribs OMIM:200610
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Osteopenia, Multiple rib fractures, Fractured radius, Short neck, Beaded ribs, Multiple prenatal ... OMIM:616897
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Osteopenia, Increased bone mineral density, Vertebral arch anomaly, Wormian bones, Broad ribs ORPHA:85184
Pallister-Hall Syndrome
Radial head subluxation, Rib fusion, Hemivertebrae, Hip dislocation OMIM:146510
Microcephalic Primordial Dwarfism, Toriello Type
Delayed skeletal maturation, Abnormal rib morphology ORPHA:2643
Acro-Renal-Mandibular Syndrome
Abnormal clavicle morphology, Hypoplastic scapulae, Short neck, Kyphosis, Hemivertebrae, Hip disl... ORPHA:958
Spondylometaphyseal Dysplasia, Algerian Type
Lumbar hyperlordosis, Anterior rib cupping, Kyphoscoliosis, Genu valgum, Platyspondyly, Carpal bo... OMIM:184253
Gm1-Gangliosidosis, Type I
Thickened ribs, Short neck, Joint stiffness, Kyphosis, Hypoplastic vertebral bodies, Scoliosis, B... OMIM:230500
Familial Osteodysplasia, Anderson Type
Recurrent fractures, Aplastic clavicle, Missing ribs, Elbow dislocation, Kyphosis, Abnormal rib m... ORPHA:2769
Atelosteogenesis, Type I
11 pairs of ribs, Long clavicles, Short neck, Thoracic platyspondyly, Elbow dislocation, Bell-sha... OMIM:108720
Hypophosphatasia
Recurrent fractures, Abnormal rib morphology, Narrow chest, Craniosynostosis ORPHA:436
Robinow Syndrome
Fused thoracic vertebrae, Kyphoscoliosis, Missing ribs, Rib fusion, Hemivertebrae, Scoliosis ORPHA:97360
Bent Bone Dysplasia Syndrome 2
Osteopenia, Short neck, Thin ribs, Coronal cleft vertebrae, Platyspondyly, Decreased calvarial os... OMIM:620076
Chromosome 8Q22.1 Duplication Syndrome
Enlarged interphalangeal joints, Genu recurvatum, Interphalangeal joint contracture of finger, Jo... OMIM:151200
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Vertebral segmentation defect, Abnormal rib morphology ORPHA:1120
Zttk Syndrome
Craniosynostosis, Kyphosis, Flexion contracture, Rib fusion, Hemivertebrae, Cervical ribs, Scolio... OMIM:617140
Thanatophoric Dysplasia, Type I
Small abnormally formed scapulae, Short neck, Wide-cupped costochondral junctions, Platyspondyly,... OMIM:187600
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness
Joint laxity, Lumbar hyperlordosis, Cupped ribs, Flat glenoid fossa, Irregular chondrocostal junc... OMIM:250420
Cantú Syndrome
Ovoid vertebral bodies, Short neck, Accelerated skeletal maturation, Delayed skeletal maturation,... ORPHA:1517
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Platyspondyly, Thin ribs ORPHA:163966
Intellectual Developmental Disorder, Autosomal Dominant 52
Scapular winging, Lumbar hyperlordosis, Pectus carinatum, Lumbar scoliosis, Cervical C2/C3 verteb... OMIM:617796
Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis
Cervical C2/C3 vertebral fusion, Joint hypermobility, Camptodactyly OMIM:617333
Otopalatodigital Syndrome Type 2
Increased bone mineral density, Tarsal synostosis, Camptodactyly of finger, Elbow dislocation, Ab... ORPHA:90652
Spondylometaphyseal Dysplasia, Sedaghatian Type
Abnormal scapula morphology, Accelerated skeletal maturation, Delayed skeletal maturation, Abnorm... ORPHA:93317
Mosaic Trisomy 8
Camptodactyly of finger, Short neck, Limitation of joint mobility, Abnormal rib morphology, Patel... ORPHA:96061
Campomelia, Cumming Type
Abnormally ossified vertebrae, Abnormal thorax morphology, Abnormal rib morphology ORPHA:1318
Faciodigitogenital Syndrome, Autosomal Recessive
Vertebral fusion, Down-sloping shoulders, Pectus excavatum, Hyperextensible hand joints, Abnormal... OMIM:227330
Cat-Eye Syndrome
Abnormal rib morphology ORPHA:195
Craniometadiaphyseal Dysplasia
Osteopenia, Cubitus valgus, Genu valgum, Sclerosis of skull base, Scoliosis, Wormian bones, Broad... OMIM:269300
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly
Joint dislocation, Thoracolumbar scoliosis, Ovoid vertebral bodies, Hyperlordosis, Horizontal rib... OMIM:618019
Otosclerosis 8
Otosclerosis OMIM:612096
Otosclerosis 3
Otosclerosis OMIM:608244
Wolf-Hirschhorn Syndrome
Rib segmentation abnormalities, Vertebral fusion, Sacral dimple, Kyphosis, Delayed skeletal matur... OMIM:194190
Baller-Gerold Syndrome
Bicoronal synostosis, Limited elbow movement, Sagittal craniosynostosis, Craniosynostosis, Patell... OMIM:218600
Pyknoachondrogenesis
Abnormal intramembranous ossification, Short thorax, Poorly ossified vertebrae, Enlarged thorax, ... ORPHA:3003
Radio-Renal Syndrome
Abnormality of the elbow, Abnormal rib morphology, Abnormal form of the vertebral bodies, Short neck ORPHA:3015
Ossification Anomalies-Psychomotor Developmental Delay Syndrome
Abnormal thorax morphology, Abnormal form of the vertebral bodies, Thin ribs, Narrow chest, Abnor... ORPHA:73230
Cleidocranial Dysplasia
Hypoplastic scapulae, Down-sloping shoulders, Recurrent fractures, Abnormal sacrum morphology, Ab... ORPHA:1452
Koolen-De Vries Syndrome
Vertebral fusion, Sacral dimple, Prominent metopic ridge, Pectus excavatum, Kyphosis, Hip disloca... OMIM:610443
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome
Cervical C2/C3 vertebral fusion ORPHA:370010
Alagille Syndrome
Delayed skeletal maturation, Abnormal rib morphology, Abnormal form of the vertebral bodies, Vert... ORPHA:52
Sacral Agenesis With Vertebral Anomalies
Absence of the sacrum, Vertebral clefting, Abnormal vertebral morphology OMIM:615709
Greenberg Dysplasia
Beaded ribs, Multiple prenatal fractures, Patchy variation in bone mineral density, Hypoplastic v... OMIM:215140
Kyphomelic Dysplasia
Anterior rib cupping, Lateral clavicle hook, Limitation of joint mobility, Undulate ribs, Flat ac... OMIM:211350
Renpenning Syndrome
Pectus excavatum, Sprengel anomaly, Abnormal rib morphology, Joint stiffness ORPHA:3242
X-Linked Hypophosphatemia
Craniosynostosis, Beaded ribs, Enlargement of the costochondral junction, Sacroiliac joint synovi... ORPHA:89936
Poland Syndrome
Aplasia/Hypoplasia of the sternum, Missing ribs, Short neck, Kyphosis, Abnormal rib morphology, H... ORPHA:2911
Cartilage-Hair Hypoplasia
Joint laxity, Lumbar hyperlordosis, Flaring of lower rib cage, Hypoplasia of the odontoid process... OMIM:250250
Tetraamelia-Multiple Malformations Syndrome
Abnormally ossified vertebrae, Abnormal rib morphology, Missing ribs ORPHA:3301
Mucopolysaccharidosis, Type Vii
Anterior beaking of lower thoracic vertebrae, Spatulate ribs, Short neck, Pectus excavatum, Hypop... OMIM:253220
Frontometaphyseal Dysplasia
Limitation of movement at ankles, Interphalangeal joint contracture of finger, Limited elbow move... ORPHA:1826
Sifrim-Hitz-Weiss Syndrome
Wormian bones, Fused cervical vertebrae, Short clavicles, Flat acetabular roof OMIM:617159
Osteogenesis Imperfecta, Type Vii
Osteopenia, Multiple rib fractures, Wide cranial sutures, Recurrent fractures, Protrusio acetabul... OMIM:610682
Antley-Bixler Syndrome
Recurrent fractures, Craniosynostosis, Joint stiffness, Camptodactyly of finger, Abnormal rib mor... ORPHA:83
Autosomal Dominant Popliteal Pterygium Syndrome
Popliteal pterygium, Abnormal rib morphology, Scoliosis, Joint stiffness ORPHA:1300
1P36 Deletion Syndrome
11 pairs of ribs, Camptodactyly of finger, Joint stiffness, Kyphosis, Rib fusion, Spinal canal st... ORPHA:1606
Autosomal Recessive Kenny-Caffey Syndrome
Thin clavicles, Delayed skeletal maturation, Thin ribs, Decreased skull ossification, Calvarial o... ORPHA:93324
Kenny-Caffey Syndrome, Type 1
Long clavicles, Delayed closure of the anterior fontanelle, Thin clavicles, Delayed skeletal matu... OMIM:244460
Craniosynostosis, Herrmann-Opitz Type
Abnormal rib morphology, Craniosynostosis ORPHA:2145
Lymphangiectasia, Intestinal
Prominent floating ribs OMIM:152800
Otosclerosis 10
Otosclerosis OMIM:615589
Occipital Horn Syndrome
Joint laxity, Persistent open anterior fontanelle, Broad clavicles, Pectus excavatum, Kyphosis, C... OMIM:304150
Trisomy 13
Kyphosis, Abnormal rib morphology, Narrow chest, Scoliosis ORPHA:3378
Cartilage-Hair Hypoplasia
Abnormally ossified vertebrae, Biconvex vertebral bodies, Sacral dimple, Flaring of lower rib cag... ORPHA:175
Congenital Myopathy 22B, Severe Fetal
Hip contracture, Scapular winging, Thoracic scoliosis, Limb joint contracture, Shoulder flexion c... OMIM:620369
Hurler Syndrome
Abnormal clavicle morphology, Camptodactyly of finger, Short neck, Limitation of joint mobility, ... ORPHA:93473
Shashi-Pena Syndrome
Accelerated skeletal maturation, Kyphosis, Osteoporosis, Scoliosis, Cervical C2/C3 vertebral fusion OMIM:617190
Kagami-Ogata Syndrome
Long clavicles, Kyphoscoliosis, Flexion contracture, Thin ribs, Bell-shaped thorax OMIM:608149
Meier-Gorlin Syndrome 1
Genu recurvatum, Lateral clavicle hook, Flat glenoid fossa, Hemivertebrae, Flexion contracture, P... OMIM:224690
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development
Arthrogryposis multiplex congenita, Decreased calvarial ossification, Craniosynostosis, Thin ribs OMIM:618265
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Lumbar hyperlordosis, Kyphoscoliosis, Sagittal craniosynostosis, Rib fusion, Hemivertebrae, Hyper... ORPHA:500150
Opsismodysplasia
Anterior rib cupping, Short neck, Hypoplasia of the odontoid process, Flat acetabular roof, Bell-... OMIM:258480
Otosclerosis 1
Otosclerosis OMIM:166800
Acromesomelic Dysplasia 4
Thoracic scoliosis, Lumbar hyperlordosis, Accelerated skeletal maturation, Thoracic platyspondyly... OMIM:619636
Shprintzen-Goldberg Craniosynostosis Syndrome
Osteopenia, Joint laxity, Genu recurvatum, Craniosynostosis, Lateral clavicle hook, Pectus excava... OMIM:182212
Myhre Syndrome
Vertebral fusion, Short neck, Joint stiffness, Limitation of joint mobility, Enlarged vertebral p... OMIM:139210
Camptodactyly Syndrome, Guadalajara Type 3
Osteopenia, Short neck, Delayed skeletal maturation, Abnormal rib morphology, Spina bifida occulta ORPHA:488434
Osteogenesis Imperfecta
Osteopenia, Cervical kyphosis, Osteoarthritis, Flexion contracture, Bone pain, Abnormal form of t... ORPHA:666
Shwachman-Diamond Syndrome 1
Anterior rib cupping, Ovoid vertebral bodies, Enlargement of the costochondral junction, Delayed ... OMIM:260400
X-Linked Myotubular Myopathy-Abnormal Genitalia Syndrome
Joint hypermobility, Thin ribs ORPHA:456328
Vacterl/Vater Association
Vertebral segmentation defect, Abnormal intervertebral disk morphology, Abnormal rib morphology, ... ORPHA:887
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
Short neck, Delayed proximal femoral epiphyseal ossification, Flexion contracture, Irregular vert... OMIM:271640
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Thoracic hypoplasia, Lateral clavicle hook, Short ribs, Narrow chest, Horizontal ribs OMIM:617895
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
Osteopenia, Pectus excavatum, Delayed skeletal maturation, Thin ribs, Lumbar hemivertebrae, Abnor... ORPHA:2463
Nestor-Guillermo Progeria Syndrome
Wide cranial sutures, Limited elbow movement, Delayed closure of the anterior fontanelle, Joint s... OMIM:614008
Lethal Congenital Contracture Syndrome 5
Congenital contracture, Flexion contracture, Thin ribs OMIM:615368
Mucopolysaccharidosis, Type Vi
Lumbar hyperlordosis, Ovoid vertebral bodies, Kyphoscoliosis, Joint stiffness, Anterior wedging o... OMIM:253200
Arnold-Chiari Malformation Type I
Stiff neck, Fused cervical vertebrae, Scoliosis, Cervical C2/C3 vertebral fusion, Anteriorly plac... ORPHA:268882
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Broad ribs, Abnormal sternum morphology, Abnormal rib morphology, Short ribs ORPHA:2519
Aspergillosis
Abnormality of the vertebral column, Abnormal rib morphology, Osteomyelitis ORPHA:1163
Lethal Congenital Contracture Syndrome 10
Thoracic scoliosis, Stiff neck, Short neck, Narrow chest, Broad ribs OMIM:617022
Schwartz-Jampel Syndrome
Short neck, Pectus carinatum, Wrist flexion contracture, Abnormally ossified vertebrae, Increased... ORPHA:800
Acrorenal-Mandibular Syndrome
Hypoplastic scapulae, Kyphoscoliosis, Missing ribs, Hemivertebrae, Hip dislocation, Elbow flexion... OMIM:200980
Multiple Pterygium-Malignant Hyperthermia Syndrome
Prominent metopic ridge, Camptodactyly of finger, Pectus excavatum, Kyphosis, Abnormal rib morpho... ORPHA:2215
Fanconi Anemia, Complementation Group I
Fused cervical vertebrae, Short neck OMIM:609053
Sclerosteosis 1
Broad ribs, Sclerotic vertebral endplates, Sclerotic scapulae, Broad clavicles OMIM:269500
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Flexion contracture, Thin ribs OMIM:614833
Monosomy 9Q22.3
Short neck, Pectus excavatum, Kyphosis, Accelerated skeletal maturation, Abnormal rib morphology,... ORPHA:77301
Acrocapitofemoral Dysplasia
Lumbar hyperlordosis, Ovoid vertebral bodies, Pectus excavatum, Cupped ribs, Pectus carinatum, De... OMIM:607778
Simpson-Golabi-Behmel Syndrome
Vertebral fusion, Congenital hip dislocation, Camptodactyly of finger, Short neck, Pectus excavat... ORPHA:373
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Aplasia/Hypoplasia of the ribs, Thoracic scoliosis, Cervical hemivertebrae, Short neck, Pectus ex... ORPHA:508498
Severe Congenital Nemaline Myopathy
Multiple prenatal fractures, Abnormal thorax morphology, Flexion contracture, Thin ribs, Arthrogr... ORPHA:171430
Chromosome 1P36 Deletion Syndrome, Distal
11 pairs of ribs, Camptodactyly of finger, Delayed closure of the anterior fontanelle, Delayed sk... OMIM:607872
Thakker-Donnai Syndrome
Cervical C2/C3 vertebral fusion, Hemivertebrae, Short neck ORPHA:1780
Mucopolysaccharidosis, Type Iiid
Thoracic scoliosis, Thickened ribs, Pilonidal sinus, Short neck, Joint stiffness, Achilles tendon... OMIM:252940
Otosclerosis 4
Otosclerosis OMIM:611571
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type
Anterior rib cupping, Short neck, Pectus excavatum, Hypoplasia of the odontoid process, C1-C2 sub... OMIM:271665
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Thoracic hypoplasia, Lateral clavicle hook, Short ribs, Scoliosis, Acetabular spurs, Horizontal ribs OMIM:613091
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Lateral clavicle hook, Pectus carinatum, Platyspondyly, Thoracic dysplasia, Short ribs, Narrow ch... OMIM:263520
Fibrous Dysplasia Of Bone
Abnormal clavicle morphology, Osteomalacia, Abnormal rib morphology, Bone pain, Rickets, Osteolys... ORPHA:249
Lenz-Majewski Hyperostotic Dwarfism
Joint laxity, Hyperextensibility of the finger joints, Broad clavicles, Delayed skeletal maturati... OMIM:151050
Kagami-Ogata Syndrome
Kyphoscoliosis, Short neck, Limitation of joint mobility, Bell-shaped thorax, Coat hanger sign of... ORPHA:254519
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion
Joint laxity, Pectus excavatum, Flexion contracture, Prominent sternum, Coat hanger sign of ribs,... ORPHA:254528
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Cupped ribs, Platyspondyly, Ovoid vertebral bodies, Scoliosis ORPHA:85167
Duane Retraction Syndrome
Short neck, Spina bifida occulta, Abnormal form of the vertebral bodies, Camptodactyly, Abnormal ... ORPHA:233
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Posterior rib fusion, Butterfly vertebrae OMIM:265380
Duane-Radial Ray Syndrome
Fused cervical vertebrae, Shoulder dislocation, Spina bifida occulta, Scoliosis OMIM:607323
Van Den Ende-Gupta Syndrome
Sacral dimple, Hypoplastic scapulae, Glenoid fossa hypoplasia, Craniosynostosis, Lateral clavicle... OMIM:600920
Apert Syndrome
Limited elbow movement, Sagittal craniosynostosis, Craniosynostosis, Delayed epiphyseal ossificat... OMIM:101200
Cerebrocostomandibular Syndrome
Rib gap, 10 pairs of ribs, 11 pairs of ribs, Congenital hip dislocation, Anomalous rib insertion ... OMIM:117650
Ellis-Van Creveld Syndrome
Capitate-hamate fusion, Pectus carinatum, Genu valgum, Short ribs, Narrow chest, Acetabular spurs... OMIM:225500
Weill-Marchesani Syndrome 1
Lumbar hyperlordosis, Joint stiffness, Spinal canal stenosis, Scoliosis, Broad ribs OMIM:277600
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Flexion contracture, Narrow chest, Abnormality of the wrist, Abnormal vertebral morphology, Elbow... ORPHA:95699
Spondylometaphyseal Dysplasia, Sedaghatian Type
11 pairs of ribs, Short neck, Cupped ribs, Horizontal inferior border of scapula, Delayed epiphys... OMIM:250220
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Bell-shaped thorax, Delayed skeletal maturation, Horizontal ribs OMIM:614857
Premature Aging Syndrome, Penttinen Type
Recurrent fractures, Hyperextensibility of the knee, Delayed skeletal maturation, Osteoporosis, T... OMIM:601812
Frontometaphyseal Dysplasia 2
Hip contracture, Congenital hip dislocation, Elbow contracture, Pectus excavatum, Fused cervical ... OMIM:617137
Pallister-Hall Syndrome
Radial head subluxation, Rib fusion, Hemivertebrae, Hip dislocation, Distal arthrogryposis ORPHA:672
Xylt1-Cdg
Joint dislocation, Joint laxity, Accelerated skeletal maturation, Short clavicles, Broad ribs ORPHA:370930
Oculocerebrocutaneous Syndrome
Congenital hip dislocation, Abnormal rib morphology, Missing ribs ORPHA:1647
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
Coat hanger sign of ribs, Thoracic hypoplasia ORPHA:254534
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1
Osteopenia, Joint dislocation, Joint laxity, Congenital hip dislocation, Protrusio acetabuli, Kyp... OMIM:225400
Myotubular Myopathy With Abnormal Genital Development
Joint hypermobility, Thin ribs OMIM:300219
Acro-Renal-Ocular Syndrome
Vertebral fusion, Vertebral segmentation defect ORPHA:959
Waardenburg Syndrome, Type 1
Sprengel anomaly, Supernumerary ribs, Supernumerary vertebrae OMIM:193500
Spondyloepimetaphyseal Dysplasia, X-Linked
Joint laxity, Lumbar hyperlordosis, Hypoplasia of the odontoid process, Kyphosis, Limited elbow e... OMIM:300106
Stuve-Wiedemann Syndrome 1
Enlarged joints, Ovoid vertebral bodies, Short neck, Osteoporosis, Elbow flexion contracture, Thi... OMIM:601559
Trisomy 1Q
Short thorax, Abnormal rib morphology, Camptodactyly of finger ORPHA:261344
Hyperparathyroidism, Transient Neonatal
Osteopenia, Wide cranial sutures, Recurrent fractures, Undulate ribs, Thin ribs, Short ribs, Narr... OMIM:618188
Thrombocytopenia-Absent Radius Syndrome
Lateral clavicle hook, Patellar aplasia, Hip dislocation, Abnormal shoulder morphology, Fused cer... OMIM:274000
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Long clavicles, Contracture of the distal interphalangeal joint of the fingers, Cleft vertebral a... ORPHA:83617
Osteopathia Striata With Cranial Sclerosis
Tracheomalacia, Delayed closure of the anterior fontanelle, Pectus excavatum, Craniofacial osteos... OMIM:300373
Alpha-Mannosidosis, Infantile Form
Osteopenia, Joint laxity, Thickened ribs, Craniosynostosis, Short neck, Pectus excavatum, Joint s... ORPHA:309282
Myhre Syndrome
Platyspondyly, Abnormal rib morphology, Joint stiffness ORPHA:2588
Campomelic Dysplasia
Thoracic scoliosis, Cervical kyphosis, Delayed epiphyseal ossification, Patellar hypoplasia, Pect... OMIM:114290
Apert Syndrome
Vertebral segmentation defect, Cervical C5/C6 vertebrae fusion ORPHA:87
Cerebrocostomandibular Syndrome
Bell-shaped thorax, Kyphosis, Posterior rib gap, Tracheomalacia ORPHA:1393
Hallermann-Streiff Syndrome
Wormian bones, Hyperlordosis, Pectus excavatum, Thin ribs, Abnormal rib cage morphology, Decrease... OMIM:234100
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Short neck, Lateral clavicle hook, Decreased calvarial ossification, Long thorax, Narrow chest, S... OMIM:617925
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Barrel-shaped chest, Pilonidal sinus, Aplasia/Hypoplasia involving the carpal bones, Broad clavic... OMIM:276820
Mucopolysaccharidosis Type 3
Abnormal clavicle morphology, Joint stiffness, Avascular necrosis of the capital femoral epiphysi... ORPHA:581
Short-Rib Thoracic Dysplasia 12
Hypoplastic scapulae, Short neck, Short thorax, Thoracic dysplasia, Short ribs, Narrow chest, Hor... OMIM:269860
Gracile Bone Dysplasia
Decreased skull ossification, Thin ribs OMIM:602361
Weill-Marchesani Syndrome 2
Lumbar hyperlordosis, Joint stiffness, Delayed skeletal maturation, Elbow flexion contracture, Sp... OMIM:608328
Craniotubular Dysplasia, Ikegawa Type
Increased intervertebral space, Broad ribs, Platyspondyly, Sclerosis of skull base OMIM:619727
Chops Syndrome
Tracheomalacia, Cervical C2/C3 vertebral fusion OMIM:616368
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Short neck, Flexion contracture, Hemivertebrae, Narrow chest, Interphalangeal joint contracture o... ORPHA:96334
Chromosome 16P13.3 Duplication Syndrome
Sacral dimple, Short neck, Pectus excavatum, Hip dislocation, Cervical C5/C6 vertebrae fusion, Ca... OMIM:613458
Monosomy 9P
Short neck, Limitation of joint mobility, Abnormal rib morphology, Abnormality of the vertebral c... ORPHA:261112
Vater/Vacterl Association
Abnormal rib morphology, Radioulnar synostosis, Abnormal sternum morphology, Scoliosis, Abnormal ... OMIM:192350
Ulbright-Hodes Syndrome
Short neck, Humeroradial synostosis, Abnormal rib morphology, Ovoid thoracolumbar vertebrae, Thin... ORPHA:3404
Autosomal Dominant Centronuclear Myopathy
Thin ribs ORPHA:169189
Fetal Akinesia Deformation Sequence 1
Hip contracture, Elbow contracture, Camptodactyly of finger, Short neck, Thin ribs, Congenital co... OMIM:208150
Dextrocardia
Congenital hip dislocation, Abnormal rib morphology ORPHA:1666
Schinzel-Giedion Midface Retraction Syndrome
Sacrococcygeal teratoma, Long clavicles, Increased density of long bones, Short neck, Metopic sut... OMIM:269150
Eiken Syndrome
Delayed epiphyseal ossification, Flat acetabular roof, Delayed ossification of carpal bones, Dela... OMIM:600002
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies
Hyperlordosis, Hip dislocation, Genu valgum, Broad ribs, Limited elbow extension OMIM:301066
Pseudo-Torch Syndrome 2
Thin ribs OMIM:617397
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Lateral clavicle hook, Early ossification of capital femoral epiphyses, Thoracic dysplasia, Short... OMIM:208500
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Craniosynostosis, Short neck, Pectus excavatum, Delayed skeletal maturation, Hip dislocation, Und... OMIM:609945
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Unicoronal synostosis, Flat acetabular roof, Bell-shaped thorax, Short ribs, Narrow chest, Horizo... OMIM:616300
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Aplasia of the epiglottis, Short ribs, Narrow chest, Short clavicles, Horizontal ribs OMIM:617088
Ear-Patella-Short Stature Syndrome
Camptodactyly of finger, Aplastic clavicle, Craniosynostosis, Elbow dislocation, Delayed skeletal... ORPHA:2554
Oculocerebrorenal Syndrome Of Lowe
Osteomalacia, Recurrent fractures, Joint stiffness, Kyphosis, Abnormal rib morphology, Hip disloc... ORPHA:534
Alagille Syndrome 1
Abnormal rib morphology, Hemivertebrae, Butterfly vertebral arch OMIM:118450
Heterotaxy, Visceral, 1, X-Linked
Absence of the sacrum, Congenital hip dislocation, Block vertebrae OMIM:306955
Restrictive Dermopathy
Osteopenia, Thoracic kyphoscoliosis, Aplasia/Hypoplasia of the clavicles, Multiple joint contract... ORPHA:1662
Mucopolysaccharidosis Type 2, Severe Form
Thickened ribs, Camptodactyly of finger, Flexion contracture, Limitation of joint mobility, Spina... ORPHA:217085
Smith-Lemli-Opitz Syndrome
Short neck, Kyphosis, Abnormal rib morphology, Hip dislocation, Abnormal form of the vertebral bo... ORPHA:818
Mucopolysaccharidosis Type 2, Attenuated Form
Thickened ribs, Camptodactyly of finger, Flexion contracture, Limitation of joint mobility, Spina... ORPHA:217093
Autosomal Recessive Malignant Osteopetrosis
Recurrent fractures, Craniosynostosis, Bone pain, Abnormal rib morphology, Reduced bone mineral d... ORPHA:667
Craniofacial Microsomia 1
Block vertebrae, Hemivertebrae, Genu valgum, Cervical ribs, Scoliosis, Vertebral hypoplasia OMIM:164210
Schinzel-Giedion Syndrome
Abnormal clavicle morphology, Sacrococcygeal teratoma, Kyphoscoliosis, Short neck, Abnormal thora... ORPHA:798
Cranioectodermal Dysplasia 2
Joint laxity, Craniosynostosis, Short neck, Pectus excavatum, Short ribs, Narrow chest, Metopic s... OMIM:613610
Hereditary Acrokeratotic Poikiloderma
Joint hyperflexibility, Abnormal rib morphology, Camptodactyly of finger ORPHA:2907
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Wormian bones, Tracheomalacia, Cervical C2/C3 vertebral fusion, Abnormal vertebral morphology, Hi... ORPHA:444077
Fryns Syndrome
Short neck, Thin ribs, Camptodactyly, Broad ribs, Joint contracture of the hand, Thoracic hypoplasia OMIM:229850
Trisomy 18
Delayed skeletal maturation, Abnormal rib morphology, Camptodactyly of finger ORPHA:3380
Elsahy-Waters Syndrome
Pectus excavatum, Cervical C2/C3 vertebral fusion OMIM:211380
Generalized Arterial Calcification Of Infancy
Abnormality of the knee, Osteomalacia, Stippled calcification of the shoulder, Abnormal calcifica... ORPHA:51608
Mandibuloacral Dysplasia Progeroid Syndrome
Osteopenia, Joint stiffness, Pectus excavatum, Flexion contracture, Osteolytic defects of the pha... OMIM:619127
Coccidioidomycosis
Osteomyelitis, Osteolysis, Arthritis, Abnormality of the vertebral column, Broad ribs ORPHA:228123
Charge Syndrome
Abnormality of bone mineral density, Abnormal rib morphology, Hemivertebrae, Scoliosis ORPHA:138
Osteopetrosis, Autosomal Recessive 7
Multiple rib fractures, Osteopetrosis OMIM:612301
Kindler Epidermolysis Bullosa
Flexion contracture, Abnormal rib morphology, Camptodactyly of finger ORPHA:2908
Pagod Syndrome
Abnormal clavicle morphology, Abnormal rib morphology ORPHA:991
Townes-Brocks Syndrome
Abnormal rib morphology, Abnormal vertebral morphology ORPHA:857
Osteopetrosis With Renal Tubular Acidosis
Pectus excavatum, Osteopetrosis, Prominent floating ribs, Recurrent fractures ORPHA:2785
Wiedemann-Rautenstrauch Syndrome
Delayed closure of the anterior fontanelle, Short neck, Flexion contracture, Thin ribs, Narrow ch... OMIM:264090
Charge Syndrome
Down-sloping shoulders, Radial head subluxation, Abnormal rib morphology, Hemivertebrae, Scoliosis OMIM:214800

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Cdx1

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Cdx1.

No publications found that use IMPC mice or data for Cdx1.

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All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Cdx1tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells
Cdx1tm415943(Ifitm2_intron_L1L2_GT0_LF2A_LacZ_BetactP_neo) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors

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