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

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

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
Hemivertebrae, Vertebral segmentation defect, Vertebral clefting, Rib fusion, Short neck OMIM:608681
Spondylocostal Dysostosis 3, Autosomal Recessive
Supernumerary vertebral ossification centers, Scoliosis, Vertebral segmentation defect, Kyphosis,... OMIM:609813
Spondylocostal Dysostosis 5
Butterfly vertebrae, Pectus carinatum, Scoliosis, Hemivertebrae, Missing ribs, Supernumerary ribs... OMIM:122600
Vertebral Fusion, Posterior Lumbosacral, With Blepharoptosis
Posterior fusion of lumbosacral vertebrae OMIM:192800
Cervical Vertebral Dysplasia
Anterior atlanto-occipital dislocation, Cervical vertebral facet hypoplasia, Cervical vertebral d... OMIM:118005
Spondylocostal Dysostosis 1, Autosomal Recessive
Kyphoscoliosis, Abnormal odontoid process morphology, Hemivertebrae, Vertebral segmentation defec... OMIM:277300
Scheuermann Disease
Osteochondrosis, Kyphosis, Morbus Scheuermann OMIM:181440
Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome
Sacral dimple, Posterior fusion of lumbosacral vertebrae, Tarsal synostosis, Abnormal form of the... ORPHA:2064
Dwarfism With Tall Vertebrae
Increased vertebral height OMIM:126950
Microcephaly With Cervical Spine Fusion Anomalies
Spinal instability, Vertebral fusion OMIM:251250
Autosomal Dominant Spondylocostal Dysostosis
Spina bifida occulta, Short thorax, Scoliosis, Hyperlordosis, Vertebral segmentation defect, Abno... ORPHA:1797
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Pectus carinatum, Scoliosis, Abnormal rib morphology, Delayed skeletal maturation, Radioulnar syn... ORPHA:3268
Diaphanospondylodysostosis
Absent or minimally ossified vertebral bodies, Short thorax, Enlarged thorax, Missing ribs, Short... ORPHA:66637
Klippel-Feil Syndrome 3, Autosomal Dominant
Thoracic scoliosis, Cervical C3/C4 vertebral fusion, Cervical C5/C6 vertebrae fusion OMIM:613702
Poland Syndrome
Short ribs, Sprengel anomaly, Hemivertebrae, Rib fusion OMIM:173800
Sprengel Deformity
Cervical segmentation defect, Spina bifida occulta, Scoliosis, Hemivertebrae, Sprengel anomaly, R... OMIM:184400
Brachyolmia, Maroteaux Type
Abnormal form of the vertebral bodies, Short thorax, Scoliosis, Pectus excavatum, Platyspondyly ORPHA:93302
Spondylocostal Dysostosis 6, Autosomal Recessive
Butterfly vertebrae, Scoliosis, Hemivertebrae, Spinal canal stenosis, Cervical kyphosis OMIM:616566
Neurogenic Thoracic Outlet Syndrome
Abnormal rib morphology ORPHA:100073
Spondylocostal Dysostosis 4, Autosomal Recessive
Abnormal odontoid process morphology, Bell-shaped thorax, Spina bifida occulta, Short thorax, Sco... OMIM:613686
Becker Nevus Syndrome
Spina bifida occulta, Pectus carinatum, Scoliosis, Pectus excavatum, Kyphosis, Supernumerary ribs... ORPHA:64755
Ankylosing Vertebral Hyperostosis With Tylosis
Vertebral hyperostosis OMIM:106400
Primary Basilar Invagination
Short neck, Abnormal vertebral morphology, Abnormality of the cervical spine ORPHA:2285
Autosomal Dominant Brachyolmia
Kyphoscoliosis, Increased vertebral height, Platyspondyly, Short thorax ORPHA:93304
Heart Defects-Limb Shortening Syndrome
Narrow chest, Abnormal form of the vertebral bodies, Abnormal rib morphology, Kyphosis, Accelerat... ORPHA:1354
Spondylometaphyseal Dysplasia, A4 Type
Platyspondyly, Flared, irregular rib ends, Limitation of joint mobility ORPHA:168555
Endosteal Hyperostosis, Worth Type
Clavicular sclerosis, Sclerotic vertebral body, Abnormal form of the vertebral bodies, Abnormal r... ORPHA:2790
Kyphomelic Dysplasia
Lateral clavicle hook, Narrow chest, Abnormal form of the vertebral bodies, Short thorax, Undulat... ORPHA:1801
Multiple Synostoses Syndrome 2
Finger symphalangism, Tarsal synostosis, Proximal symphalangism, Humeroradial synostosis, Carpal ... OMIM:610017
Isolated Klippel-Feil Syndrome
Abnormal shoulder morphology, Cervical C2/C3 vertebral fusion, Abnormality of the vertebral colum... ORPHA:2345
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Abnormality of the cervical spine, Superior rib anomalies OMIM:307500
Osteomesopyknosis
Sclerotic vertebral body, Abnormal form of the vertebral bodies, Increased bone mineral density, ... ORPHA:2777
Second Metatarsal-Metacarpal Syndrome
Platyspondyly, Synostosis of carpals/tarsals OMIM:269630
Osteoarthritis With Mild Chondrodysplasia
Beaking of vertebral bodies, Hip osteoarthritis, Knee osteoarthritis, Heberden's node, Joint stif... OMIM:604864
Thoracomelic Dysplasia
Short ribs, Bell-shaped thorax OMIM:273740
Spondyloepiphyseal Dysplasia Tarda, Kohn Type
Restricted large joint movement, Abnormal vertebral morphology, Abnormality of the ankle, Abnorma... ORPHA:163665
Osteogenesis Imperfecta, Type Ix
Pectus carinatum, Scoliosis, Wormian bones, Recurrent fractures, Pectus excavatum, Kyphosis, Decr... OMIM:259440
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Short thorax, Sacral dimple, Vertebral fusion, Vertebral segmentation defect OMIM:618845
Vertebral Hypoplasia With Lumbar Kyphosis
Vertebral hypoplasia, Lumbar kyphosis OMIM:192900
Acromesomelic Dysplasia, Maroteaux Type
Beaking of vertebral bodies, Abnormal form of the vertebral bodies, Vertebral wedging, Scoliosis,... ORPHA:40
Thoracic Dysostosis, Isolated
Short ribs, Bell-shaped thorax, Pectus excavatum OMIM:187750
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type
Genu valgum, Intervertebral space narrowing, Pectus carinatum, Scoliosis, Thoracic kyphosis, Decr... OMIM:609223
Galactosialidosis
Abnormal vertebral morphology, Abnormality of the vertebral column ORPHA:351
Becker Nevus Syndrome
Scoliosis, Hemivertebrae, Pectus excavatum, Cervical ribs OMIM:604919
Klippel-Feil Syndrome 2, Autosomal Recessive
Fused cervical vertebrae, Cervical C2/C3 vertebral fusion, Scoliosis, Sprengel anomaly, Short neck OMIM:214300
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B
Tarsal synostosis, Fused cervical vertebrae, Scoliosis, Antecubital pterygium, Flexion contractur... OMIM:618469
Autosomal Recessive Spondylocostal Dysostosis
Abnormal intervertebral disk morphology, Spina bifida occulta, Abnormal form of the vertebral bod... ORPHA:2311
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome
Scoliosis, Abnormal sacrum morphology, Fused cervical vertebrae, Thoracic hemivertebrae ORPHA:1436
Acrodysplasia Scoliosis
Scoliosis, Vertebral segmentation defect, Spina bifida occulta ORPHA:2956
Thoracolaryngopelvic Dysplasia
Bell-shaped thorax, Scoliosis, Short ribs, Irregular chondrocostal junctions, Irregular vertebral... OMIM:187760
Osteogenesis Imperfecta, Type Xv
Thin ribs, Scoliosis, Platyspondyly, Joint hypermobility, Bowing of limbs due to multiple fractur... OMIM:615220
Mesomelic Dysplasia, Kantaputra Type
Tarsal synostosis, Cubitus valgus, Vertebral segmentation defect, Synostosis of carpal bones, Abn... ORPHA:1836
Femoral-Facial Syndrome
Scoliosis, Vertebral segmentation defect, Abnormal rib morphology, Radioulnar synostosis, Sprenge... ORPHA:1988
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods
Fusion of midcervical facet joints, Widening of cervical spinal canal, Cervical vertebral bodies ... OMIM:606842
Spondylocamptodactyly Syndrome
Platyspondyly, Scoliosis ORPHA:3180
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Scoliosis, Hemivertebrae, Short ribs, Thin ribs, Missing ribs, Block vertebrae, Rib fusion, Short... OMIM:271520
Metatropic Dysplasia
Abnormal intervertebral disk morphology, Narrow chest, Abnormal form of the vertebral bodies, Sco... ORPHA:2635
Kuskokwim Syndrome
Abnormal clavicle morphology, Abnormal form of the vertebral bodies, Aplasia/Hypoplasia of the pa... ORPHA:1149
Spondyloepiphyseal Dysplasia Tarda With Mental Retardation
Platyspondyly, Anterior beaking of lumbar vertebrae OMIM:271620
Brachyolmia Type 2
Platyspondyly OMIM:613678
Spondylosis, Cervical
Spondylolysis, Cervical spondylosis, Spondylolisthesis, Spina bifida occulta OMIM:184300
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2
Short neck, Vertebral segmentation defect, Abnormal rib morphology ORPHA:2578
Acropectorovertebral Dysplasia
Abnormal vertebral morphology, Spina bifida occulta at L5, Synostosis of carpal bones, Spina bifi... OMIM:102510
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome
Abnormal rib morphology ORPHA:2435
Mental Retardation, Skeletal Dysplasia, And Abducens Palsy
Scoliosis, Fused cervical vertebrae, Thoracic hemivertebrae, Prominent metopic ridge OMIM:309620
Spondylometaphyseal Dysplasia, Type A4
Costochondral joint sclerosis, Enlargement of the costochondral junction, Pectus carinatum, Flat ... OMIM:609052
Klippel-Feil Syndrome 1, Autosomal Dominant
Cervical C2/C3 vertebral fusion, Scoliosis, Abnormal rib morphology, Sprengel anomaly, Short neck... OMIM:118100
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A
Cervical spinal canal stenosis, Popliteal pterygium, Tarsal synostosis, Spondylolisthesis, Barrel... OMIM:178110
Myotonia With Skeletal Abnormalities And Mental Retardation
Kyphoscoliosis, Genu valgum, Bell-shaped thorax, Vertebral wedging, Pectus carinatum OMIM:255710
Cerebrofaciothoracic Dysplasia
Bifid ribs, Narrow chest, Scoliosis, Hemivertebrae, Vertebral segmentation defect, Sprengel anoma... ORPHA:1394
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Abnormal clavicle morphology, Fused cervical vertebrae, Hyperlordosis, Pectus excavatum, Kyphosis... ORPHA:2522
Wildervanck Syndrome
Fused cervical vertebrae OMIM:314600
Developmental And Speech Delay Due To Sox5 Deficiency
Butterfly vertebrae, Pectus carinatum, Scoliosis, Thoracic kyphoscoliosis, Lumbar hyperlordosis, ... ORPHA:313892
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome
Abnormal form of the vertebral bodies, Hemivertebrae, Abnormal rib morphology, Abnormality of the... ORPHA:2234
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3
Multiple joint dislocation, Carpal bone hypoplasia, Joint hypermobility, Dislocated radial head, ... OMIM:618395
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 2
Short neck, Shield chest, Pectus excavatum, Thoracic scoliosis OMIM:616994
Spondylometaphyseal Dysplasia, Axial
Narrow chest, Scoliosis, Anterior rib cupping, Thoracic hypoplasia, Platyspondyly OMIM:602271
Pontine Tegmental Cap Dysplasia
Ankle clonus, Scoliosis, Hemivertebrae, Rib fusion OMIM:614688
Multiple Pterygium Syndrome, X-Linked
Multiple pterygia, Joint dislocation, Thin ribs, Abnormal cervical curvature, Flexion contracture... OMIM:312150
Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant
Kyphoscoliosis, Barrel-shaped chest, Pectus carinatum, Arthritis, Knee pain, Hypoplasia of the od... OMIM:184100
Spondyloepimetaphyseal Dysplasia, Irapa Type
Limited elbow extension, Hypoplastic sacrum, Genu valgum, Enlargement of the costochondral juncti... OMIM:271650
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly
Lateral clavicle hook, Narrow chest, Short ribs, Acetabular spurs, Trident acetabulum, Horizontal... OMIM:617405
Metatropic Dysplasia
Kyphoscoliosis, Relatively short spine, Short ribs, Long coccyx, Cupped ribs, Kyphosis, Flat acet... OMIM:156530
Spondyloepimetaphyseal Dysplasia, Irapa Type
Abnormal carpal morphology, Genu valgum, Pectus carinatum, Limitation of joint mobility, Synostos... ORPHA:93351
Familial Congenital Mirror Movements
Fused cervical vertebrae ORPHA:238722
Multiple Pterygium Syndrome, Lethal Type
Multiple pterygia, Joint dislocation, Thin ribs, Abnormal cervical curvature, Flexion contracture... OMIM:253290
Lethal Congenital Contracture Syndrome Type 1
Abnormal form of the vertebral bodies, Limitation of joint mobility, Abnormal rib morphology, Abn... ORPHA:1486
Greenberg Dysplasia
Abnormal bone ossification, Narrow chest, Abnormal form of the vertebral bodies, Abnormal pelvis ... ORPHA:1426
Brachydactyly, Type B1
Joint contracture of the hand, Hypoplastic sacrum, Delayed cranial suture closure, Hemivertebrae,... OMIM:113000
Gorlin Syndrome
Abnormal vertebral morphology, Vertebral wedging, Scoliosis, Hemivertebrae, Abnormal rib morpholo... ORPHA:377
Multiple Pterygium Syndrome, Escobar Variant
Dislocated radial head, Kyphosis, Hip dislocation, Long clavicles, Axillary pterygium, Pterygium,... OMIM:265000
Keratoconus Posticus Circumscriptus
Short neck, Limited elbow extension and supination, Abnormal vertebral segmentation and fusion OMIM:244600
Spinal Dysplasia, Anhalt Type
Narrow anterio-posterior vertebral body diameter, Thoracolumbar scoliosis, Thoracic hemivertebrae... OMIM:601344
Isolated Hemihyperplasia
Scoliosis, Asymmetry of the thorax ORPHA:2128
Ring Chromosome 21 Syndrome
Scoliosis, Thoracic hemivertebrae, Abnormal thorax morphology, Fused thoracic vertebrae ORPHA:1445
Kbg Syndrome
Scoliosis, Thoracic kyphosis, Persistent open anterior fontanelle, Delayed skeletal maturation, C... ORPHA:2332
Fibrochondrogenesis 2
Bell-shaped thorax, Short ribs, Cupped ribs, Thoracic hypoplasia, Platyspondyly OMIM:614524
White Forelock With Malformations
Spina bifida occulta, Abnormal rib morphology, Delayed skeletal maturation, Sprengel anomaly, Joi... ORPHA:2475
Hypersulfaturia
Costochondral pain OMIM:620372
Laryngotracheoesophageal Cleft Type 4
Abnormal rib morphology, Abnormal form of the vertebral bodies ORPHA:93941
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Beaking of vertebral bodies, Scoliosis, Delayed ossification of carpal bones, Flat acetabular roo... OMIM:609616
Ophthalmoplegia, External, With Rib And Vertebral Anomalies
Pectus carinatum, Scoliosis, Short ribs, Pectus excavatum, Missing ribs OMIM:618155
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Abnormal clavicle morphology, Narrow chest, Decreased skull ossification, Abnormal rib morphology... ORPHA:93267
Kniest Dysplasia
Fused cervical vertebrae, Bell-shaped thorax, Delayed epiphyseal ossification, Vertebral wedging,... ORPHA:485
Congenital Disorder Of Glycosylation, Type Iig
Kyphoscoliosis, Butterfly vertebrae, Osteopenia, Vertebral segmentation defect, Posterior rib gap... OMIM:611209
Proximal 16P11.2 Microdeletion Syndrome
Craniosynostosis, Scoliosis, Abnormal vertebral morphology, Rib fusion ORPHA:261197
Autosomal Recessive Multiple Pterygium Syndrome
Popliteal pterygium, Axillary pterygium, Multiple pterygia, Spina bifida occulta, Pterygium, Abno... ORPHA:2990
Thoracomelic Dysplasia
Genu valgum, Bell-shaped thorax, Narrow chest, Short ribs, Hyperlordosis, Joint hypermobility, Sh... ORPHA:1803
Septopreoptic Holoprosencephaly
Abnormal vertebral morphology, Abnormal rib morphology ORPHA:280195
Spondyloepiphyseal Dysplasia, Maroteaux Type
Kyphoscoliosis, Genu valgum, Pectus carinatum, Generalized osteoporosis, Shield chest, Atlantoaxi... OMIM:184095
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies
Hypoplastic distal segments of scapulae, Joint hypermobility, Pectus excavatum, Abnormal rib morp... OMIM:602196
Axial Spondylometaphyseal Dysplasia
Osteopenia, Aplasia/Hypoplasia of the vertebrae, Narrow chest, Scoliosis, Short ribs, Deformed ri... ORPHA:168549
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
Abnormal bone ossification, Biconvex vertebral bodies, Reduced bone mineral density, Pectus carin... ORPHA:93315
Juberg-Hayward Syndrome
Abnormal vertebral morphology, Abnormality of the wrist, Scoliosis, Abnormal rib morphology, Radi... ORPHA:2319
Spondylometaphyseal Dysplasia, Kozlowski Type
Kyphoscoliosis, Carpal bone hypoplasia, Pectus carinatum, Scoliosis, Delayed ossification of carp... OMIM:184252
Microphthalmia, Syndromic 3
Butterfly vertebrae, Hemivertebrae, Vertebral hypoplasia, Missing ribs, Supernumerary ribs, Rib f... OMIM:206900
Mosaic Trisomy 14
Camptodactyly of finger, Short neck, Narrow chest, Abnormal rib morphology ORPHA:1703
Osteogenesis Imperfecta, Type Xviii
Vertebral compression fracture, Thin ribs, Biconcave vertebral bodies, Generalized osteoporosis, ... OMIM:617952
Wildervanck Syndrome
Short neck, Fused cervical vertebrae ORPHA:3456
Osteogenesis Imperfecta, Type Xxi
Barrel-shaped chest, Bell-shaped thorax, Scoliosis, Wormian bones, Pectus excavatum, Osteoporosis... OMIM:619131
Diastrophic Dysplasia
Abnormal clavicle morphology, Joint dislocation, Abnormal form of the vertebral bodies, Increased... ORPHA:628
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Abnormal form of the vertebral bodies, Scoliosis, Hemivertebrae, Abnormal rib morphology, Sprenge... ORPHA:2180
Spondyloepiphyseal Dysplasia Tarda, X-Linked
Barrel-shaped chest, Hip osteoarthritis, Scoliosis, Limitation of joint mobility, Hump-shaped mou... OMIM:313400
Mucopolysaccharidosis Type 4
Reduced bone mineral density, Genu valgum, Joint hypermobility, Joint dislocation, Short thorax, ... ORPHA:582
Spondyloepimetaphyseal Dysplasia, Strudwick Type
Genu valgum, Delayed pubic bone ossification, Pectus carinatum, Scoliosis, Hyperlordosis, Hypopla... OMIM:184250
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Abnormal form of the vertebral bodies, Hemivertebrae, Missing ribs, Abnormal rib morphology, Join... ORPHA:2759
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome
Abnormal form of the vertebral bodies, Scoliosis, Hemivertebrae, Kyphosis, Hypoplastic vertebral ... ORPHA:2916
Idiopathic Juvenile Osteoporosis
Vertebral compression fracture, Bone pain, Kyphosis, Osteoporosis, Recurrent fractures ORPHA:85193
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Scoliosis, Hyperlordosis, Kyphosis, Achilles tendon contracture, Elbow contracture, Vertebral fusion OMIM:606612
Osteogenesis Imperfecta, Type Ii
Absent ossification of calvaria, Bell-shaped thorax, Recurrent fractures, Thin ribs, Wormian bone... OMIM:166210
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type
Limited elbow extension, Flat acetabular roof, Pectus excavatum, Ovoid vertebral bodies, Thoracic... OMIM:608728
Osteogenesis Imperfecta, Type Iii
Thin ribs, Scoliosis, Kyphosis, Biconcave vertebral bodies, Multiple prenatal fractures, Protrusi... OMIM:259420
Mucopolysaccharidosis, Type X
Beaking of vertebral bodies, Genu valgum, Spatulate ribs, Broad clavicles, Scoliosis, Hyperlordos... OMIM:619698
Mucopolysaccharidosis, Type Iva
Anterior beaking of lumbar vertebrae, Lumbar kyphosis, Genu valgum, Joint hypermobility, Pectus c... OMIM:253000
Kbg Syndrome
Thoracic kyphosis, Rib fusion, Short neck, Delayed skeletal maturation, Cervical ribs, Vertebral ... OMIM:148050
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
Beaking of vertebral bodies, Sacral dimple, Bifid ribs, Narrow chest, Craniosynostosis, Hyperexte... OMIM:213980
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Scoliosis, Hyperlordosis, Kyphosis, Achilles tendon contracture, Vertebral fusion OMIM:607155
Spondyloepimetaphyseal Dysplasia, Missouri Type
Limited elbow extension, Pear-shaped vertebrae, Irregular sclerotic endplates, Flared, irregular ... OMIM:602111
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Osteopenia, Fused cervical vertebrae, Osteolysis, Flaring of rib cage, Broad ribs, Joint swelling... OMIM:612852
Achondrogenesis Type 1B
Narrow chest, Short thorax, Abnormal enchondral ossification, Abnormal rib morphology, Short neck ORPHA:93298
Cole-Carpenter Syndrome
Abnormal form of the vertebral bodies, Scoliosis, Wormian bones, Abnormal rib morphology, Kyphosi... ORPHA:2050
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Sprengel anomaly, Abnormal rib morphology, Abnormality of the vertebral column OMIM:601076
Holt-Oram Syndrome
Abnormal clavicle morphology, Scoliosis, Pectus excavatum, Abnormal rib morphology, Kyphosis, Joi... ORPHA:392
Craniodiaphyseal Dysplasia
Abnormal rib morphology ORPHA:1513
Grant Syndrome
Narrow chest, Joint dislocation, Wormian bones, Decreased skull ossification, Abnormal rib morpho... ORPHA:2097
Aicardi Syndrome
Butterfly vertebrae, Scoliosis, Missing ribs, Rib fusion, Supernumerary ribs, Block vertebrae, Bi... ORPHA:50
Schneckenbecken Dysplasia
Lateral clavicle hook, Narrow chest, Short ribs, Flat acetabular roof, Narrow vertebral interpedi... OMIM:269250
Caudal Regression Syndrome
Aplasia/Hypoplasia of the sacrum, Scoliosis, Missing ribs, Joint stiffness, Hypoplastic vertebral... ORPHA:3027
Osteogenesis Imperfecta, Type Xvi
Osteopenia, Narrow chest, Vertebral compression fracture, Recurrent fractures, Wormian bones, Dec... OMIM:616229
Short Stature And Facioauriculothoracic Malformations
Abnormal odontoid process morphology, Pectus carinatum, Pectus excavatum, Cervical ribs, Short neck OMIM:609654
Infantile-Onset X-Linked Spinal Muscular Atrophy
Kyphoscoliosis, Ankle flexion contracture, Short ribs, Elbow flexion contracture, Cupped ribs, In... ORPHA:1145
Fibrochondrogenesis
Bell-shaped thorax, Narrow chest, Abnormal form of the vertebral bodies, Short ribs, Abnormal rib... ORPHA:2021
Phaver Syndrome
Butterfly vertebrae, Pterygium, Abnormal form of the vertebral bodies, Abnormal rib morphology, J... ORPHA:2876
Cog1-Cdg
Kyphoscoliosis, Butterfly vertebrae, Osteopenia, Vertebral segmentation defect, Posterior rib gap... ORPHA:263508
Spondylocarpotarsal Synostosis Syndrome
Limited elbow extension, Tarsal synostosis, Pectus carinatum, Scoliosis, Hyperlordosis, Vertebral... OMIM:272460
Otopalatodigital Syndrome Type 1
Increased bone mineral density, Limitation of joint mobility, Synostosis of carpal bones, Elbow d... ORPHA:90650
Thanatophoric Dysplasia, Type Ii
Narrow chest, Wide-cupped costochondral junctions, Short ribs, Small abnormally formed scapulae, ... OMIM:187601
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Platyspondyly, Decreased skull ossification, Thin ribs, 11 pairs of ribs OMIM:300863
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Lateral clavicle hook, Bell-shaped thorax, Narrow chest, Thoracic dysplasia, Horizontal ribs OMIM:615633
Aarskog-Scott Syndrome
Genu recurvatum, Pectus excavatum, Camptodactyly of finger, Joint hypermobility, Short neck, Abno... ORPHA:915
Frontometaphyseal Dysplasia 1
Limited elbow movement, Ankle flexion contracture, Genu valgum, Fused cervical vertebrae, Cervica... OMIM:305620
Cooper-Jabs Syndrome
Reduced bone mineral density, Scoliosis, Missing ribs, Abnormal rib morphology, Camptodactyly of ... ORPHA:1488
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism
Cervical C2/C3 vertebral fusion, Thoracolumbar scoliosis, Flexion contracture, Acetabular dysplas... OMIM:616549
Dyggve-Melchior-Clausen Disease
Beaking of vertebral bodies, Limited elbow extension, Genu valgum, Abnormality of the vertebral c... ORPHA:239
Verheij Syndrome
Scoliosis, Hemivertebrae, Joint hypermobility, Short neck, Hip dislocation, Vertebral fusion OMIM:615583
Aicardi Syndrome
Butterfly vertebrae, Scoliosis, Hemivertebrae, Missing ribs, Rib fusion, Supernumerary ribs, Bloc... OMIM:304050
Pseudoachondroplasia
Beaking of vertebral bodies, Limited elbow extension, Carpal bone hypoplasia, Genu valgum, Spatul... OMIM:177170
Lamb-Shaffer Syndrome
Scoliosis, Thoracic kyphosis, Fused cervical vertebrae ORPHA:530983
Mucopolysaccharidosis, Type Iiia
Dense calvaria, Scoliosis, Joint stiffness, Ovoid thoracolumbar vertebrae, Thickened ribs OMIM:252900
Basal Cell Nevus Syndrome 1
Kyphoscoliosis, Vertebral wedging, Abnormal sternum morphology, Scoliosis, Hemivertebrae, Short r... OMIM:109400
Achondrogenesis Type 1A
Narrow chest, Short thorax, Recurrent fractures, Abnormal enchondral ossification, Short neck, Mu... ORPHA:93299
Congenital Pseudoarthrosis Of The Clavicle
Congenital pseudoarthrosis of the clavicle, Cervical ribs ORPHA:66630
Spondyloepimetaphyseal Dysplasia, Shohat Type
Bell-shaped thorax, Vertebral compression fracture, Joint hypermobility, Delayed epiphyseal ossif... OMIM:602557
Mosaic Trisomy 20
Fused cervical vertebrae, Narrow chest, Scoliosis, Vertebral segmentation defect, Kyphosis, Spina... ORPHA:1724
3M Syndrome
Increased vertebral height, Abnormality of the elbow, Short thorax, Scoliosis, Hyperlordosis, Enl... ORPHA:2616
Melnick-Needles Syndrome
Osteolytic defects of the phalanges of the hand, Narrow chest, Short thorax, Short clavicles, Sco... ORPHA:2484
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Decreased cranial base ossification, Narrow chest, Thin ribs, Short ribs, Flat acetabular roof, W... OMIM:151210
Mucopolysaccharidosis, Type Iiib
Joint stiffness, Ovoid thoracolumbar vertebrae, Dense calvaria, Thickened ribs OMIM:252920
Cole-Carpenter Syndrome 2
Osteopenia, Lambdoidal craniosynostosis, Thin ribs, Wormian bones, Pectus excavatum, Kyphosis, Co... OMIM:616294
Larsen Syndrome
Beaking of vertebral bodies, Spondylolysis, Multiple carpal ossification centers, Spina bifida oc... OMIM:150250
Ehlers-Danlos Syndrome, Classic-Like, 2
Osteopenia, Generalized joint hypermobility, Cervical C2/C3 vertebral fusion, Shoulder dislocatio... OMIM:618000
Mucopolysaccharidosis, Type Iiic
Kyphoscoliosis, Beaking of vertebral bodies, Dense calvaria, Joint stiffness, Ovoid thoracolumbar... OMIM:252930
Alkaptonuria
Limitation of knee mobility, Intervertebral disk degeneration, Arthritis, Arthropathy, Kyphosis, ... OMIM:203500
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Abnormally ossified vertebrae, Abnormal rib morphology ORPHA:3035
Stapes Ankylosis With Broad Thumbs And Toes
Proximal/middle symphalangism of 5th finger, Fused cervical vertebrae OMIM:184460
Dyggve-Melchior-Clausen Disease
Multicentric ossification of proximal humeral epiphyses, Pectus carinatum, Multicentric ossificat... OMIM:223800
Fibrodysplasia Ossificans Progressiva
Ectopic ossification in tendon tissue, Scoliosis, Ectopic ossification in ligament tissue, Ectopi... OMIM:135100
Robinow Syndrome, Autosomal Recessive 1
Hypoplastic sacrum, Sacral dimple, Dislocated radial head, Scoliosis, Hemivertebrae, Proximal/mid... OMIM:268310
Osteogenesis Imperfecta, Type Viii
Osteopenia, Barrel-shaped chest, Vertebral compression fracture, Scoliosis, Thin ribs, Wormian bo... OMIM:610915
Vertebral Hypersegmentation And Orofacial Anomalies
Scapular winging, Pectus excavatum, Six lumbar vertebrae, Supernumerary ribs, Joint hypermobility OMIM:619122
Cervical Ribs, Sprengel Anomaly, Anal Atresia, And Urethral Obstruction
Thoracolumbar scoliosis, Sprengel anomaly, Cervical ribs OMIM:601389
Metaphyseal Chondrodysplasia, Schmid Type
Abnormal vertebral morphology, Osteosclerosis of ribs, Anterior rib cupping, Irregular vertebral ... ORPHA:174
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Butterfly vertebrae, Fused cervical vertebrae, Spina bifida occulta, Pectus excavatum, Sprengel a... OMIM:619227
Garg-Mishra Progeroid Syndrome
Narrow chest, Thin ribs, Persistent open anterior fontanelle, Ovoid vertebral bodies, Platyspondyly OMIM:620601
Jeune Syndrome
Abnormal clavicle morphology, Narrow chest, Short thorax, Abnormal sternum morphology, Abnormal r... ORPHA:474
Achondrogenesis, Type Ia
Hypoplastic sacrum, Bell-shaped thorax, Unossified vertebral bodies, Barrel-shaped chest, Short t... OMIM:200600
Autosomal Recessive Robinow Syndrome
Sacral dimple, Pectus carinatum, Scoliosis, Vertebral segmentation defect, Pectus excavatum, Kyph... ORPHA:1507
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome
Sacral dimple, Rib fusion ORPHA:544488
Osteogenesis Imperfecta, Type X
Osteopenia, Genu valgum, Vertebral compression fracture, Narrow chest, Scoliosis, Thin ribs, Decr... OMIM:613848
Spondyloepimetaphyseal Dysplasia, Shohat Type
Squared-off platyspondyly, Abnormal vertebral morphology, Generalized bone demineralization, Vert... ORPHA:93352
Wolf-Hirschhorn Syndrome
Sacral dimple, Abnormal vertebral morphology, Abnormal form of the vertebral bodies, Abnormality ... ORPHA:280
Mucopolysaccharidosis Type 6
Genu valgum, Kyphosis, Joint stiffness, Ovoid vertebral bodies, Short neck, Broad ribs ORPHA:583
Femoral-Facial Syndrome
Limited elbow movement, 11 pairs of ribs, Hypoplastic acetabulae, Scoliosis, Hemivertebrae, Missi... OMIM:134780
Craniodiaphyseal Dysplasia, Autosomal Dominant
Thickened ribs, Craniofacial osteosclerosis, Cortical sclerosis, Diaphyseal sclerosis OMIM:122860
Holzgreve Syndrome
Joint stiffness, Abnormally ossified vertebrae, Abnormal rib morphology ORPHA:2167
Lateral Meningocele Syndrome
Scoliosis, Wormian bones, Pectus excavatum, Kyphosis, Biconcave vertebral bodies, Sclerosis of sk... OMIM:130720
Brachytelephalangic Chondrodysplasia Punctata
Butterfly vertebrae, Cervical spinal canal stenosis, Epiphyseal stippling of toe phalanges, Abnor... ORPHA:79345
Thoracic Outlet Syndrome
Abnormal rib morphology ORPHA:97330
Prune Belly Syndrome
Scoliosis, Vertebral segmentation defect, Pectus excavatum, Abnormal rib morphology, Congenital h... ORPHA:2970
10Q22.3Q23.3 Microduplication Syndrome
Abnormal clavicle morphology, Abnormal rib morphology ORPHA:276422
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome
Pectus carinatum, Hyperlordosis, Limitation of joint mobility, Abnormal rib morphology, Delayed s... ORPHA:3068
Thrombocytopenia-Absent Radius Syndrome
Fused cervical vertebrae, Aplasia/Hypoplasia of the patella, Scoliosis, Cervical ribs, Patellar d... ORPHA:3320
Thin Ribs-Tubular Bones-Dysmorphism Syndrome
Abnormal rib morphology ORPHA:1506
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome
Short neck, Pectus carinatum, Abnormal rib morphology, Kyphosis ORPHA:3082
Mucopolysaccharidosis, Type Ivb
Genu valgum, Scoliosis, Hyperlordosis, Prominent sternum, Kyphosis, Osteoporosis, Joint stiffness... OMIM:253010
Axial Mesodermal Dysplasia Spectrum
Abnormal form of the vertebral bodies, Scoliosis, Vertebral segmentation defect, Abnormal rib mor... ORPHA:1834
Dysosteosclerosis
Osteopenia, Clavicular sclerosis, Narrow chest, Increased intervertebral space, Short ribs, Scler... OMIM:224300
Koolen-De Vries Syndrome
Scoliosis, Vertebral segmentation defect, Pectus excavatum, Kyphosis, Joint hypermobility, Hip di... ORPHA:96169
Three M Syndrome 2
Short thorax, Pectus carinatum, Thin ribs, Hyperlordosis, Scapular winging, Delayed skeletal matu... OMIM:612921
Cardiospondylocarpofacial Syndrome
Tarsal synostosis, Fused cervical vertebrae, Scoliosis, Fusion of middle ear ossicles, Delayed sk... OMIM:157800
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Joint hypermobility, Recurrent fractures, Abnormal rib morphology, Decreased calvarial ossification ORPHA:2772
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy
Kyphoscoliosis, Thin ribs, Thoracic kyphosis, Prominent sternum, Wormian bones, Delayed skeletal ... OMIM:300232
Cenani-Lenz Syndrome
Abnormal form of the vertebral bodies, Scoliosis, Synostosis of carpal bones, Abnormal rib morpho... ORPHA:3258
Fibrochondrogenesis 1
Posterior rib cupping, Long clavicles, Thin clavicles, Widely patent coronal suture, Thin ribs, P... OMIM:228520
Lethal Kniest-Like Dysplasia
Narrow chest, Short ribs, Hypoplastic vertebral bodies, Coronal cleft vertebrae, Anterior rib cup... ORPHA:2347
Achondrogenesis, Type Ii
Short ribs, Barrel-shaped chest, Absent vertebral body mineralization, Horizontal ribs OMIM:200610
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Osteopenia, Increased bone mineral density, Wormian bones, Vertebral arch anomaly, Broad ribs ORPHA:85184
Acro-Renal-Mandibular Syndrome
Abnormal clavicle morphology, Butterfly vertebrae, Pectus carinatum, Scoliosis, Hemivertebrae, Th... ORPHA:958
Microcephalic Primordial Dwarfism, Toriello Type
Delayed skeletal maturation, Abnormal rib morphology ORPHA:2643
Atelosteogenesis, Type I
Long clavicles, Fused cervical vertebrae, 11 pairs of ribs, Bell-shaped thorax, Narrow chest, Elb... OMIM:108720
Spondylometaphyseal Dysplasia, Algerian Type
Kyphoscoliosis, Carpal bone hypoplasia, Genu valgum, Anterior rib cupping, Platyspondyly, Lumbar ... OMIM:184253
Gm1-Gangliosidosis, Type I
Beaking of vertebral bodies, Scoliosis, Kyphosis, Joint stiffness, Hypoplastic vertebral bodies, ... OMIM:230500
Mucolipidosis Iii Alpha/Beta
Carpal bone hypoplasia, Spondylolisthesis, Scoliosis, Short ribs, Limitation of joint mobility, K... OMIM:252600
Familial Osteodysplasia, Anderson Type
Abnormal form of the vertebral bodies, Recurrent fractures, Scoliosis, Abnormal rib morphology, K... ORPHA:2769
Thanatophoric Dysplasia, Type I
Narrow chest, Wide-cupped costochondral junctions, Short ribs, Small abnormally formed scapulae, ... OMIM:187600
Chromosome 8Q22.1 Duplication Syndrome
Cubitus valgus, Cervical C2/C3 vertebral fusion, Genu recurvatum, Limitation of joint mobility, J... OMIM:151200
Robinow Syndrome
Kyphoscoliosis, Scoliosis, Hemivertebrae, Missing ribs, Rib fusion, Fused thoracic vertebrae ORPHA:97360
Bent Bone Dysplasia Syndrome 2
Osteopenia, Butterfly vertebrae, Hypoplastic acetabulae, Thin ribs, Short ribs, Decreased calvari... OMIM:620076
Hypophosphatasia
Craniosynostosis, Abnormal rib morphology, Narrow chest, Recurrent fractures ORPHA:436
Cornelia De Lange Syndrome 6
Pectus carinatum, Scoliosis, Delayed skeletal maturation, Posterior rib fusion, Down-sloping shou... OMIM:620568
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness
Carpal bone hypoplasia, Genu valgum, Scoliosis, Short ribs, Cupped ribs, Flat glenoid fossa, Irre... OMIM:250420
Zttk Syndrome
Cervical ribs, Scoliosis, Hemivertebrae, Kyphosis, Flexion contracture, Rib fusion, Joint hypermo... OMIM:617140
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Vertebral segmentation defect, Abnormal rib morphology ORPHA:1120
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Osteopenia, Wormian bones, Short ribs, Decreased skull ossification, Multiple prenatal fractures,... OMIM:616897
Pallister-Hall Syndrome
Radial head subluxation, Hemivertebrae, Hip dislocation, Rib fusion OMIM:146510
Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis
Joint hypermobility, Cervical C2/C3 vertebral fusion, Camptodactyly OMIM:617333
Cantú Syndrome
Narrow chest, Osteoporosis, Delayed skeletal maturation, Accelerated skeletal maturation, Ovoid v... ORPHA:1517
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Platyspondyly, Thin ribs ORPHA:163966
Otopalatodigital Syndrome Type 2
Tarsal synostosis, Narrow chest, Increased bone mineral density, Scoliosis, Synostosis of carpal ... ORPHA:90652
Campomelia, Cumming Type
Abnormal rib morphology, Abnormally ossified vertebrae, Abnormal thorax morphology ORPHA:1318
Intellectual Developmental Disorder, Autosomal Dominant 52
Cervical C2/C3 vertebral fusion, Pectus carinatum, Scapular winging, Lumbar scoliosis, Lumbar hyp... OMIM:617796
Spondylometaphyseal Dysplasia, Sedaghatian Type
Narrow chest, Abnormal rib morphology, Delayed skeletal maturation, Accelerated skeletal maturati... ORPHA:93317
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly
Limited elbow extension, Genu valgum, Platyspondyly, Joint dislocation, Knee flexion contracture,... OMIM:618019
Mayer-Rokitansky-Küster-Hauser Syndrome
Abnormal sacrum morphology, Vertebral segmentation defect, Vertebral fusion, Abnormal form of the... ORPHA:3109
Faciodigitogenital Syndrome, Autosomal Recessive
Pectus excavatum, Camptodactyly, Abnormal rib cage morphology, Hyperextensible hand joints, Down-... OMIM:227330
Mosaic Trisomy 8
Narrow chest, Scoliosis, Vertebral segmentation defect, Limitation of joint mobility, Abnormal ri... ORPHA:96061
Cat-Eye Syndrome
Abnormal rib morphology ORPHA:195
Otosclerosis 8
Otosclerosis OMIM:612096
Otosclerosis 3
Otosclerosis OMIM:608244
Craniometadiaphyseal Dysplasia
Osteopenia, Genu valgum, Cubitus valgus, Scoliosis, Wormian bones, Broad ribs, Sclerosis of skull... OMIM:269300
Wolf-Hirschhorn Syndrome
Sacral dimple, Abnormal sternal ossification, Abnormal form of the vertebral bodies, Scoliosis, K... OMIM:194190
Baller-Gerold Syndrome
Limited elbow movement, Abnormal vertebral morphology, Lambdoidal craniosynostosis, Patellar hypo... OMIM:218600
Koolen-De Vries Syndrome
Sacral dimple, Spondylolisthesis, Scoliosis, Pectus excavatum, Kyphosis, Prominent metopic ridge,... OMIM:610443
Pyknoachondrogenesis
Short thorax, Enlarged thorax, Short ribs, Abnormal intramembranous ossification, Unossified sacr... ORPHA:3003
Radio-Renal Syndrome
Abnormality of the elbow, Short neck, Abnormal rib morphology, Abnormal form of the vertebral bodies ORPHA:3015
Ossification Anomalies-Psychomotor Developmental Delay Syndrome
Abnormal bone ossification, Generalized bone demineralization, Narrow chest, Abnormal form of the... ORPHA:73230
Cleidocranial Dysplasia
Genu valgum, Spina bifida occulta, Narrow chest, Abnormal sacrum morphology, Short clavicles, Sco... ORPHA:1452
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome
Cervical C2/C3 vertebral fusion ORPHA:370010
Alagille Syndrome
Spina bifida occulta, Butterfly vertebral arch, Abnormal form of the vertebral bodies, Vertebral ... ORPHA:52
Greenberg Dysplasia
Short ribs, Decreased skull ossification, Multiple prenatal fractures, Hypoplastic vertebral bodi... OMIM:215140
Sacral Agenesis With Vertebral Anomalies
Abnormal vertebral morphology, Absence of the sacrum, Vertebral clefting OMIM:615709
X-Linked Hypophosphatemia
Rickets, Vertebral hyperostosis, Enlargement of the costochondral junction, Reduced bone mineral ... ORPHA:89936
Renpenning Syndrome
Joint stiffness, Sprengel anomaly, Pectus excavatum, Abnormal rib morphology ORPHA:3242
Kyphomelic Dysplasia
Lateral clavicle hook, Pterygium, Undulate ribs, Flat acetabular roof, Limitation of joint mobili... OMIM:211350
Poland Syndrome
Finger symphalangism, Reduced bone mineral density, Spina bifida occulta, Asymmetry of the thorax... ORPHA:2911
Mucopolysaccharidosis, Type Vii
Anterior beaking of lumbar vertebrae, Platyspondyly, Spatulate ribs, Acetabular dysplasia, Genu v... OMIM:253220
Tetraamelia-Multiple Malformations Syndrome
Missing ribs, Abnormally ossified vertebrae, Abnormal rib morphology ORPHA:3301
Lymphangiectasia, Intestinal
Prominent floating ribs OMIM:152800
Frontometaphyseal Dysplasia
Limited elbow movement, Fused cervical vertebrae, Limitation of knee mobility, Spina bifida occul... ORPHA:1826
Cartilage-Hair Hypoplasia
Limited elbow extension, Asymmetry of the thorax, Narrow chest, Scoliosis, Prominent sternum, Nar... OMIM:250250
Sifrim-Hitz-Weiss Syndrome
Wormian bones, Short clavicles, Fused cervical vertebrae, Flat acetabular roof OMIM:617159
1P36 Deletion Syndrome
Bifid ribs, 11 pairs of ribs, Scoliosis, Delayed cranial suture closure, Kyphosis, Joint stiffnes... ORPHA:1606
Otosclerosis 10
Otosclerosis OMIM:615589
Antley-Bixler Syndrome
Narrow chest, Delayed cranial suture closure, Abnormal rib morphology, Joint stiffness, Camptodac... ORPHA:83
Osteogenesis Imperfecta, Type Vii
Osteopenia, Narrow chest, Vertebral compression fracture, Recurrent fractures, Scoliosis, Delayed... OMIM:610682
Autosomal Recessive Kenny-Caffey Syndrome
Thin clavicles, Calvarial osteosclerosis, Thin ribs, Delayed cranial suture closure, Decreased sk... ORPHA:93324
Autosomal Dominant Popliteal Pterygium Syndrome
Joint stiffness, Popliteal pterygium, Scoliosis, Abnormal rib morphology ORPHA:1300
Kenny-Caffey Syndrome, Type 1
Long clavicles, Thin clavicles, Calvarial osteosclerosis, Thin ribs, Decreased skull ossification... OMIM:244460
Craniosynostosis, Herrmann-Opitz Type
Craniosynostosis, Abnormal rib morphology ORPHA:2145
Cartilage-Hair Hypoplasia
Limited elbow extension, Abnormal bone ossification, Sacral dimple, Biconvex vertebral bodies, Na... ORPHA:175
Occipital Horn Syndrome
Limited elbow extension, Genu valgum, Narrow chest, Pectus carinatum, Broad clavicles, Short clav... OMIM:304150
Trisomy 13
Scoliosis, Narrow chest, Abnormal rib morphology, Kyphosis ORPHA:3378
Congenital Myopathy 22B, Severe Fetal
Spinal rigidity, Shoulder flexion contracture, Scoliosis, Thin ribs, Scapular winging, Pectus exc... OMIM:620369
Shashi-Pena Syndrome
Cervical C2/C3 vertebral fusion, Scoliosis, Osteoporosis, Kyphosis, Accelerated skeletal maturation OMIM:617190
Hurler Syndrome
Abnormal clavicle morphology, Abnormal vertebral morphology, Scoliosis, Limitation of joint mobil... ORPHA:93473
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Kyphoscoliosis, Hyperextensible hand joints, Hemivertebrae, Hyperextensibility at elbow, Rib fusi... ORPHA:500150
Otosclerosis 1
Otosclerosis OMIM:166800
Kagami-Ogata Syndrome
Kyphoscoliosis, Long clavicles, Bell-shaped thorax, Thin ribs, Flexion contracture OMIM:608149
Myhre Syndrome
Enlarged vertebral pedicles, Limitation of joint mobility, Camptodactyly, Joint stiffness, Platys... OMIM:139210
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development
Decreased calvarial ossification, Craniosynostosis, Thin ribs, Arthrogryposis multiplex congenita OMIM:618265
Aspergillosis
Osteomyelitis, Abnormal rib morphology, Abnormality of the vertebral column ORPHA:1163
Meier-Gorlin Syndrome 1
Absent sternal ossification, Pectus carinatum, Short ribs, Delayed skeletal maturation, Joint hyp... OMIM:224690
Nestor-Guillermo Progeria Syndrome
Limited elbow movement, Thin ribs, Scoliosis, Osteolytic defects of the distal phalanges of the h... OMIM:614008
Opsismodysplasia
Posterior rib cupping, Bell-shaped thorax, Narrow chest, Scoliosis, Flat acetabular roof, Hypopla... OMIM:258480
Acromesomelic Dysplasia 4
Beaking of vertebral bodies, Genu valgum, Enlargement of the costochondral junction, Prominent st... OMIM:619636
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Lateral clavicle hook, Narrow chest, Short ribs, Thoracic hypoplasia, Horizontal ribs OMIM:617895
Camptodactyly Syndrome, Guadalajara Type 3
Osteopenia, Spina bifida occulta, Abnormal rib morphology, Delayed skeletal maturation, Short neck ORPHA:488434
X-Linked Myotubular Myopathy-Abnormal Genitalia Syndrome
Joint hypermobility, Thin ribs ORPHA:456328
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
Kyphoscoliosis, Dislocated radial head, Cupped ribs, Joint hypermobility, Pathologic fracture, Hi... OMIM:271640
Shwachman-Diamond Syndrome 1
Enlargement of the costochondral junction, Narrow chest, Irregular ossification at anterior rib e... OMIM:260400
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
Osteopenia, Abnormal bone ossification, Lumbar hemivertebrae, Thin ribs, Pectus excavatum, Delaye... ORPHA:2463
Vacterl/Vater Association
Abnormal sacrum morphology, Abnormal intervertebral disk morphology, Abnormal rib morphology, Ver... ORPHA:887
Mucopolysaccharidosis, Type Vi
Kyphoscoliosis, Genu valgum, Anterior wedging of L2, Avascular necrosis, Pectus carinatum, Hypopl... OMIM:253200
Shprintzen-Goldberg Craniosynostosis Syndrome
Lateral clavicle hook, Osteopenia, Genu valgum, C1-C2 vertebral abnormality, Pectus carinatum, Sc... OMIM:182212
Osteogenesis Imperfecta
Reduced bone mineral density, Abnormal form of the vertebral bodies, Dislocated radial head, Pect... ORPHA:666
Lethal Congenital Contracture Syndrome 5
Thin ribs, Flexion contracture, Congenital contracture OMIM:615368
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Abnormal sternum morphology, Short ribs, Abnormal rib morphology, Broad ribs ORPHA:2519
Arnold-Chiari Malformation Type I
Stiff neck, Fused cervical vertebrae, Cervical C2/C3 vertebral fusion, Scoliosis, Anteriorly plac... ORPHA:268882
Lethal Congenital Contracture Syndrome 10
Stiff neck, Narrow chest, Thoracic scoliosis, Short neck, Broad ribs OMIM:617022
Schwartz-Jampel Syndrome
Spinal rigidity, Flexion contracture of toe, Pectus carinatum, Hyperlordosis, Abnormally ossified... ORPHA:800
Fanconi Anemia, Complementation Group I
Short neck, Fused cervical vertebrae OMIM:609053
Multiple Pterygium-Malignant Hyperthermia Syndrome
Scoliosis, Pectus excavatum, Abnormal rib morphology, Kyphosis, Prominent metopic ridge, Camptoda... ORPHA:2215
Acrorenal-Mandibular Syndrome
Kyphoscoliosis, Butterfly vertebrae, Narrow chest, Thin ribs, Hemivertebrae, Elbow flexion contra... OMIM:200980
Sclerosteosis 1
Broad clavicles, Sclerotic scapulae, Sclerotic vertebral endplates, Broad ribs OMIM:269500
Monosomy 9Q22.3
Abnormality of the vertebral column, Metopic synostosis, Pectus excavatum, Abnormal rib morpholog... ORPHA:77301
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Generalized joint hypermobility, Shoulder subluxation, Fused cervical vertebrae, Thoracic kyphosi... ORPHA:508498
Acrocapitofemoral Dysplasia
Narrow chest, Pectus carinatum, Scoliosis, Short ribs, Delayed ossification of carpal bones, Pect... OMIM:607778
Simpson-Golabi-Behmel Syndrome
Scoliosis, Vertebral segmentation defect, Pectus excavatum, Abnormal rib morphology, Congenital h... ORPHA:373
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type
Posterior rib cupping, Hip subluxation, Bell-shaped thorax, Narrow chest, Epiphyseal stippling, P... OMIM:271665
Severe Congenital Nemaline Myopathy
Thin ribs, Multiple prenatal fractures, Flexion contracture, Arthrogryposis multiplex congenita, ... ORPHA:171430
Thakker-Donnai Syndrome
Short neck, Hemivertebrae, Cervical C2/C3 vertebral fusion ORPHA:1780
Chromosome 1P36 Deletion Syndrome, Distal
11 pairs of ribs, Scoliosis, Camptodactyly, Rib fusion, Camptodactyly of finger, Delayed skeletal... OMIM:607872
Otosclerosis 4
Otosclerosis OMIM:611571
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Thin ribs, Flexion contracture OMIM:614833
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Lateral clavicle hook, Scoliosis, Short ribs, Acetabular spurs, Thoracic hypoplasia, Horizontal ribs OMIM:613091
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Scoliosis, Cupped ribs, Joint stiffness, Ovoid vertebral bodies, Severe platyspondyly, Platyspondyly OMIM:608940
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Lateral clavicle hook, Narrow chest, Pectus carinatum, Short ribs, Thoracic dysplasia, Platyspond... OMIM:263520
Lenz-Majewski Hyperostotic Dwarfism
Spina bifida occulta, Broad clavicles, Hyperextensibility of the finger joints, Hemivertebrae, El... OMIM:151050
Mucopolysaccharidosis, Type Iiid
Elbow flexion contracture, Joint stiffness, Ovoid thoracolumbar vertebrae, Hypoplastic vertebral ... OMIM:252940
Fibrous Dysplasia Of Bone
Abnormal clavicle morphology, Rickets, Abnormal lumbar spine morphology, Bone pain, Scoliosis, Os... ORPHA:249
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Platyspondyly, Scoliosis, Ovoid vertebral bodies, Cupped ribs ORPHA:85167
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion
Prominent sternum, Wrist flexion contracture, Pectus excavatum, Camptodactyly, Coat hanger sign o... ORPHA:254528
Kagami-Ogata Syndrome
Kyphoscoliosis, Bell-shaped thorax, Limitation of joint mobility, Coat hanger sign of ribs, Thora... ORPHA:254519
Duane-Radial Ray Syndrome
Shoulder dislocation, Scoliosis, Fused cervical vertebrae, Spina bifida occulta OMIM:607323
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Butterfly vertebrae, Posterior rib fusion OMIM:265380
Apert Syndrome
Limited elbow movement, Lambdoidal craniosynostosis, Delayed epiphyseal ossification, Pectus cari... OMIM:101200
Van Den Ende-Gupta Syndrome
Lateral clavicle hook, Sacral dimple, Camptodactyly of 2nd-5th fingers, Glenoid fossa hypoplasia,... OMIM:600920
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Proximal tibial and fibular fusion, Craniosynostosis, Tarsal synostosis, Scoliosis, Elbow flexion... ORPHA:95699
Cerebrocostomandibular Syndrome
Anomalous rib insertion to vertebrae, 10 pairs of ribs, 11 pairs of ribs, Bell-shaped thorax, Rib... OMIM:117650
Ellis-Van Creveld Syndrome
Genu valgum, Narrow chest, Pectus carinatum, Short ribs, Acetabular spurs, Horizontal ribs, Capit... OMIM:225500
Premature Aging Syndrome, Penttinen Type
Thin ribs, Scoliosis, Delayed cranial suture closure, Osteolytic defects of the distal phalanges ... OMIM:601812
Weill-Marchesani Syndrome 1
Scoliosis, Joint stiffness, Spinal canal stenosis, Broad ribs, Lumbar hyperlordosis OMIM:277600
Spondylometaphyseal Dysplasia, Sedaghatian Type
11 pairs of ribs, Narrow chest, Delayed epiphyseal ossification, Short ribs, Flat acetabular roof... OMIM:250220
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Delayed skeletal maturation, Horizontal ribs, Bell-shaped thorax OMIM:614857
Frontometaphyseal Dysplasia 2
Fused cervical vertebrae, Dislocated radial head, Scoliosis, Pectus excavatum, Camptodactyly, Con... OMIM:617137
Pallister-Hall Syndrome
Hemivertebrae, Radial head subluxation, Distal arthrogryposis, Rib fusion, Hip dislocation ORPHA:672
Duane Retraction Syndrome
Spina bifida occulta, Abnormal form of the vertebral bodies, Camptodactyly, Short neck, Abnormal ... ORPHA:233
Xylt1-Cdg
Joint dislocation, Short clavicles, Accelerated skeletal maturation, Joint hypermobility, Broad ribs ORPHA:370930
Oculocerebrocutaneous Syndrome
Missing ribs, Abnormal rib morphology, Congenital hip dislocation ORPHA:1647
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
Coat hanger sign of ribs, Thoracic hypoplasia ORPHA:254534
Myotubular Myopathy With Abnormal Genital Development
Joint hypermobility, Thin ribs OMIM:300219
Acro-Renal-Ocular Syndrome
Vertebral segmentation defect, Vertebral fusion ORPHA:959
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1
Kyphoscoliosis, Osteopenia, Platyspondyly, Joint dislocation, Thin ribs, Osteoporosis, Congenital... OMIM:225400
Waardenburg Syndrome, Type 1
Sprengel anomaly, Supernumerary ribs, Supernumerary vertebrae OMIM:193500
Hyperparathyroidism, Transient Neonatal
Osteopenia, Narrow chest, Thin ribs, Short ribs, Undulate ribs, Fractured rib, Wide cranial sutur... OMIM:618188
Stuve-Wiedemann Syndrome 1
Talipes valgus, Flexion contracture of toe, Thin ribs, Scoliosis, Elbow flexion contracture, Camp... OMIM:601559
Trisomy 1Q
Short thorax, Camptodactyly of finger, Abnormal rib morphology ORPHA:261344
Spondyloepimetaphyseal Dysplasia, X-Linked
Limited elbow extension, Joint hypermobility, Pectus carinatum, Short clavicles, Delayed ossifica... OMIM:300106
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Long clavicles, Fused cervical vertebrae, Thin ribs, Cleft vertebral arch, Coronal craniosynostos... ORPHA:83617
Thrombocytopenia-Absent Radius Syndrome
Lateral clavicle hook, Carpal bone hypoplasia, Abnormal shoulder morphology, Fused cervical verte... OMIM:274000
Myhre Syndrome
Platyspondyly, Joint stiffness, Abnormal rib morphology ORPHA:2588
Osteopathia Striata With Cranial Sclerosis
Flexion contracture of toe, Spina bifida occulta, Straight clavicles, Tracheomalacia, Scoliosis, ... OMIM:300373
Campomelic Dysplasia
Kyphoscoliosis, Absent sternal ossification, Dislocated radial head, Pectus carinatum, Tracheobro... OMIM:114290
Alpha-Mannosidosis, Infantile Form
Talipes valgus, Osteopenia, Genu valgum, Joint hypermobility, Craniosynostosis, Avascular necrosi... ORPHA:309282
Apert Syndrome
Vertebral segmentation defect, Cervical C5/C6 vertebrae fusion ORPHA:87
Cerebrocostomandibular Syndrome
Posterior rib gap, Bell-shaped thorax, Kyphosis, Tracheomalacia ORPHA:1393
Mucopolysaccharidosis Type 3
Abnormal clavicle morphology, Genu valgum, Reduced bone mineral density, Abnormal form of the ver... ORPHA:581
Hallermann-Streiff Syndrome
Decreased number of sternal ossification centers, Tracheomalacia, Thin ribs, Scoliosis, Hyperlord... OMIM:234100
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Barrel-shaped chest, Carpal bone aplasia, Broad clavicles, Pectus carinatum, Hemivertebrae, Promi... OMIM:276820
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Lateral clavicle hook, Narrow chest, Short ribs, Long thorax, Decreased calvarial ossification, S... OMIM:617925
Gracile Bone Dysplasia
Thin ribs, Decreased skull ossification OMIM:602361
Short-Rib Thoracic Dysplasia 12
Narrow chest, Short thorax, Short ribs, Thoracic dysplasia, Horizontal ribs, Short neck, Hypoplas... OMIM:269860
Weill-Marchesani Syndrome 2
Flexion contracture of toe, Scoliosis, Elbow flexion contracture, Joint stiffness, Spinal canal s... OMIM:608328
Vater/Vacterl Association
Abnormal vertebral morphology, Abnormal sternum morphology, Scoliosis, Abnormal rib morphology, R... OMIM:192350
Chops Syndrome
Cervical C2/C3 vertebral fusion, Tracheomalacia OMIM:616368
Craniotubular Dysplasia, Ikegawa Type
Platyspondyly, Increased intervertebral space, Broad ribs, Sclerosis of skull base OMIM:619727
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Kyphoscoliosis, Short ribs, Pectus excavatum, Thoracic hypoplasia, Long clavicles, Scoliosis, Hem... ORPHA:96334
Chromosome 16P13.3 Duplication Syndrome
Sacral dimple, Tracheobronchomalacia, Pectus excavatum, Camptodactyly, Cervical C5/C6 vertebrae f... OMIM:613458
Monosomy 9P
Abnormality of the vertebral column, Scoliosis, Limitation of joint mobility, Abnormal rib morpho... ORPHA:261112
Ulbright-Hodes Syndrome
Thin ribs, Short ribs, Abnormal rib morphology, Humeroradial synostosis, Short sternum, Ovoid tho... ORPHA:3404
Autosomal Dominant Centronuclear Myopathy
Thin ribs ORPHA:169189
Eiken Syndrome
Delayed epiphyseal ossification, Delayed ossification of carpal bones, Flat acetabular roof, Dela... OMIM:600002
Fetal Akinesia Deformation Sequence 1
Thin ribs, Wrist flexion contracture, Congenital contracture, Camptodactyly of finger, Hip contra... OMIM:208150
Dextrocardia
Abnormal rib morphology, Congenital hip dislocation ORPHA:1666
Schinzel-Giedion Midface Retraction Syndrome
Long clavicles, Wormian bones, Hypoplasia of first ribs, Short sternum, Metopic suture patent to ... OMIM:269150
Pseudo-Torch Syndrome 2
Thin ribs OMIM:617397
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies
Limited elbow extension, Genu valgum, Hyperlordosis, Broad ribs, Hip dislocation OMIM:301066
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Lateral clavicle hook, Narrow chest, Early ossification of capital femoral epiphyses, Short ribs,... OMIM:208500
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Popliteal pterygium, Patellar hypoplasia, Craniosynostosis, Dislocated radial head, Short clavicl... OMIM:609945
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Bell-shaped thorax, Narrow chest, Unicoronal synostosis, Short ribs, Flat acetabular roof, Horizo... OMIM:616300
Heterotaxy, Visceral, 1, X-Linked
Block vertebrae, Absence of the sacrum, Congenital hip dislocation OMIM:306955
Ear-Patella-Short Stature Syndrome
Abnormal rib morphology, Delayed skeletal maturation, Camptodactyly of finger, Patellar aplasia, ... ORPHA:2554
Oculocerebrorenal Syndrome Of Lowe
Genu valgum, Arthritis, Scoliosis, Osteomalacia, Abnormal rib morphology, Kyphosis, Joint stiffne... ORPHA:534
Alagille Syndrome 1
Hemivertebrae, Abnormal rib morphology, Butterfly vertebral arch OMIM:118450
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Aplasia of the epiglottis, Narrow chest, Short clavicles, Short ribs, Horizontal ribs OMIM:617088
Mucopolysaccharidosis Type 2, Severe Form
Abnormal vertebral morphology, Arthritis, Limitation of joint mobility, Camptodactyly of finger, ... ORPHA:217085
Mucopolysaccharidosis Type 2, Attenuated Form
Abnormal vertebral morphology, Arthritis, Limitation of joint mobility, Camptodactyly of finger, ... ORPHA:217093
Restrictive Dermopathy
Osteopenia, Thin clavicles, Thin ribs, Thoracic kyphoscoliosis, Decreased skull ossification, Art... ORPHA:1662
Smith-Lemli-Opitz Syndrome
Abnormal form of the vertebral bodies, Scoliosis, Abnormal rib morphology, Kyphosis, Short neck, ... ORPHA:818
Craniofacial Microsomia 1
Genu valgum, Scoliosis, Hemivertebrae, Vertebral hypoplasia, Block vertebrae, Cervical ribs OMIM:164210
Cranioectodermal Dysplasia 2
Narrow chest, Craniosynostosis, Metopic synostosis, Short ribs, Pectus excavatum, Joint hypermobi... OMIM:613610
Autosomal Recessive Malignant Osteopetrosis
Osteopetrosis, Reduced bone mineral density, Narrow chest, Bone pain, Abnormal rib morphology, Cr... ORPHA:667
Hereditary Acrokeratotic Poikiloderma
Joint hypermobility, Camptodactyly of finger, Abnormal rib morphology ORPHA:2907
Schinzel-Giedion Syndrome
Kyphoscoliosis, Abnormal clavicle morphology, Stiff elbow, Scoliosis, Wormian bones, Camptodactyl... ORPHA:798
Elsahy-Waters Syndrome
Cervical C2/C3 vertebral fusion, Pectus excavatum OMIM:211380
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Hip subluxation, Abnormal vertebral morphology, Cervical C2/C3 vertebral fusion, Tracheomalacia, ... ORPHA:444077
Fryns Syndrome
Thin ribs, Camptodactyly, Thoracic hypoplasia, Short neck, Broad ribs, Joint contracture of the hand OMIM:229850
Trisomy 18
Camptodactyly of finger, Delayed skeletal maturation, Abnormal rib morphology ORPHA:3380
Osteopetrosis, Autosomal Recessive 7
Femur fracture, Osteopetrosis, Multiple rib fractures OMIM:612301
Generalized Arterial Calcification Of Infancy
Stippled calcification of the elbow, Hypophosphatemic rickets, Fused cervical vertebrae, Abnormal... ORPHA:51608
Coccidioidomycosis
Abnormality of the vertebral column, Arthritis, Osteomyelitis, Broad ribs, Osteolysis ORPHA:228123
Mandibuloacral Dysplasia Progeroid Syndrome
Osteopenia, Genu valgum, Osteolytic defects of the phalanges of the hand, Thin ribs, Delayed cran... OMIM:619127
Holt-Oram Syndrome
Limited elbow extension, Abnormal carpal morphology, Sacral dimple, 11 pairs of ribs, Cervical C2... OMIM:142900
Charge Syndrome
Abnormality of bone mineral density, Scoliosis, Hemivertebrae, Abnormal rib morphology ORPHA:138
Kindler Epidermolysis Bullosa
Camptodactyly of finger, Flexion contracture, Abnormal rib morphology ORPHA:2908
Pagod Syndrome
Abnormal clavicle morphology, Abnormal rib morphology ORPHA:991
Fraser Syndrome
Vertebral segmentation defect, Abnormal rib morphology ORPHA:2052
Wiedemann-Rautenstrauch Syndrome
Narrow chest, Thin ribs, Scoliosis, Flexion contracture, Short neck, Widely patent fontanelles an... OMIM:264090
Townes-Brocks Syndrome
Abnormal vertebral morphology, Abnormal rib morphology ORPHA:857
Charge Syndrome
Scoliosis, Hemivertebrae, Abnormal rib morphology, Radial head subluxation, Down-sloping shoulders OMIM:214800
Osteopetrosis With Renal Tubular Acidosis
Recurrent fractures, Osteopetrosis, Prominent floating ribs, Pectus excavatum ORPHA:2785

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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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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