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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
Vertebral segmentation defect, Rib fusion, Short neck, Vertebral clefting, Hemivertebrae OMIM:608681
Spondylocostal Dysostosis 3, Autosomal Recessive
Hypoplasia of the odontoid process, Contracture of the proximal interphalangeal joint of the 2nd ... OMIM:609813
Spondylocostal Dysostosis 5
Pectus carinatum, Butterfly vertebrae, Missing ribs, Supernumerary ribs, Short neck, Low back pai... OMIM:122600
Vertebral Fusion, Posterior Lumbosacral, With Blepharoptosis
Posterior fusion of lumbosacral vertebrae OMIM:192800
Cervical Vertebral Dysplasia
Cervical vertebral dysplasia, Cervical vertebral facet hypoplasia, Anterior atlanto-occipital dis... OMIM:118005
Spondylocostal Dysostosis 1, Autosomal Recessive
Block vertebrae, Abnormal odontoid process morphology, Vertebral segmentation defect, Rib fusion,... OMIM:277300
Scheuermann Disease
Osteochondrosis, Kyphosis, Morbus Scheuermann OMIM:181440
Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome
Abnormal form of the vertebral bodies, Joint stiffness, Posterior fusion of lumbosacral vertebrae... 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
Short thorax, Abnormal sacrum morphology, Vertebral segmentation defect, Missing ribs, Short neck... ORPHA:1797
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Pectus carinatum, Delayed skeletal maturation, Radioulnar synostosis, Abnormal rib morphology, Sc... ORPHA:3268
Diaphanospondylodysostosis
Absent or minimally ossified vertebral bodies, Missing ribs, Short neck, Abnormal vertebral segme... ORPHA:66637
Klippel-Feil Syndrome 3, Autosomal Dominant
Cervical C5/C6 vertebrae fusion, Cervical C3/C4 vertebral fusion, Thoracic scoliosis OMIM:613702
Poland Syndrome
Rib fusion, Sprengel anomaly, Hemivertebrae, Short ribs OMIM:173800
Sprengel Deformity
Rib segmentation abnormalities, Sprengel anomaly, Hemivertebrae, Spina bifida occulta, Cervical s... OMIM:184400
Brachyolmia, Maroteaux Type
Platyspondyly, Abnormal form of the vertebral bodies, Short thorax, Pectus excavatum, Scoliosis ORPHA:93302
Spondylocostal Dysostosis 6, Autosomal Recessive
Cervical kyphosis, Spinal canal stenosis, Butterfly vertebrae, Hemivertebrae, Scoliosis OMIM:616566
Neurogenic Thoracic Outlet Syndrome
Abnormal rib morphology ORPHA:100073
Spondylocostal Dysostosis 4, Autosomal Recessive
Block vertebrae, Abnormal odontoid process morphology, Bell-shaped thorax, Vertebral segmentation... OMIM:613686
Becker Nevus Syndrome
Pectus carinatum, Rib fusion, Supernumerary ribs, Spina bifida occulta, Pectus excavatum, Scolios... ORPHA:64755
Ankylosing Vertebral Hyperostosis With Tylosis
Vertebral hyperostosis OMIM:106400
Primary Basilar Invagination
Abnormal vertebral morphology, Abnormality of the cervical spine, Short neck ORPHA:2285
Autosomal Dominant Brachyolmia
Platyspondyly, Increased vertebral height, Kyphoscoliosis, Short thorax ORPHA:93304
Heart Defects-Limb Shortening Syndrome
Narrow chest, Abnormal form of the vertebral bodies, Accelerated skeletal maturation, Abnormal ri... ORPHA:1354
Endosteal Hyperostosis, Worth Type
Sclerotic vertebral body, Abnormal form of the vertebral bodies, Generalized osteosclerosis, Clav... ORPHA:2790
Spondylometaphyseal Dysplasia, A4 Type
Platyspondyly, Limitation of joint mobility, Flared, irregular rib ends ORPHA:168555
Kyphomelic Dysplasia
Narrow chest, Limitation of joint mobility, Abnormal form of the vertebral bodies, Joint stiffnes... ORPHA:1801
Multiple Synostoses Syndrome 2
Carpal synostosis, Humeroradial synostosis, Finger symphalangism, Proximal symphalangism, Vertebr... OMIM:610017
Isolated Klippel-Feil Syndrome
Abnormality of the vertebral column, Abnormal shoulder morphology, Cervical C2/C3 vertebral fusio... ORPHA:2345
Hypogonadism, Male, With Impaired Intellectual Development 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
Platyspondyly, Hip osteoarthritis, Schmorl's node, Joint stiffness, Knee osteoarthritis, Beaking ... OMIM:604864
Osteogenesis Imperfecta, Type Ix
Platyspondyly, Pectus carinatum, Recurrent fractures, Bowing of limbs due to multiple fractures, ... OMIM:259440
Thoracomelic Dysplasia
Bell-shaped thorax, Short ribs OMIM:273740
Spondyloepiphyseal Dysplasia Tarda, Kohn Type
Platyspondyly, Abnormal vertebral morphology, Abnormality of the ankle, Abnormality of the knee, ... ORPHA:163665
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Vertebral segmentation defect, Vertebral fusion, Sacral dimple, Short thorax OMIM:618845
Vertebral Hypoplasia With Lumbar Kyphosis
Lumbar kyphosis, Vertebral hypoplasia OMIM:192900
Acromesomelic Dysplasia, Maroteaux Type
Vertebral wedging, Abnormal form of the vertebral bodies, Joint stiffness, Joint hypermobility, B... ORPHA:40
Thoracic Dysostosis, Isolated
Pectus excavatum, Bell-shaped thorax, Short ribs OMIM:187750
Galactosialidosis
Abnormal vertebral morphology, Abnormality of the vertebral column ORPHA:351
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type
Platyspondyly, Pectus carinatum, Lumbar hyperlordosis, Genu valgum, Intervertebral space narrowin... OMIM:609223
Becker Nevus Syndrome
Pectus excavatum, Scoliosis, Hemivertebrae, Cervical ribs OMIM:604919
Klippel-Feil Syndrome 2, Autosomal Recessive
Cervical C2/C3 vertebral fusion, Short neck, Sprengel anomaly, Scoliosis, Fused cervical vertebrae OMIM:214300
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B
Flexion contracture, Short neck, Fused thoracic vertebrae, Antecubital pterygium, Tarsal synostos... OMIM:618469
Autosomal Recessive Spondylocostal Dysostosis
Short thorax, Abnormal form of the vertebral bodies, Camptodactyly of finger, Rib segmentation ab... ORPHA:2311
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome
Fused cervical vertebrae, Abnormal sacrum morphology, Scoliosis, Thoracic hemivertebrae ORPHA:1436
Acrodysplasia Scoliosis
Spina bifida occulta, Scoliosis, Vertebral segmentation defect ORPHA:2956
Thoracolaryngopelvic Dysplasia
Bell-shaped thorax, Horizontal ribs, Short ribs, Irregular chondrocostal junctions, Scoliosis, Ir... OMIM:187760
Osteogenesis Imperfecta, Type Xv
Thin ribs, Platyspondyly, Bowing of limbs due to multiple fractures, Joint hypermobility, Scolios... OMIM:615220
Mesomelic Dysplasia, Kantaputra Type
Abnormality of the ankle, Synostosis of carpal bones, Camptodactyly of finger, Vertebral segmenta... ORPHA:1836
Femoral-Facial Syndrome
Vertebral segmentation defect, Rib fusion, Radioulnar synostosis, Sprengel anomaly, Abnormal rib ... 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
Thin ribs, Block vertebrae, Supernumerary vertebrae, Short ribs, Rib fusion, Missing ribs, Short ... OMIM:271520
Metatropic Dysplasia
Narrow chest, Hypoplastic cervical vertebrae, Abnormal form of the vertebral bodies, Abnormal enc... ORPHA:2635
Kuskokwim Syndrome
Abnormal clavicle morphology, Abnormal form of the vertebral bodies, Joint stiffness, Aplasia/Hyp... ORPHA:1149
Spondyloepiphyseal Dysplasia Tarda With Impaired Intellectual Development
Platyspondyly, Anterior beaking of lumbar vertebrae OMIM:271620
Brachyolmia Type 2
Platyspondyly OMIM:613678
Spondylosis, Cervical
Spina bifida occulta, Spondylolysis, Spondylolisthesis, Cervical spondylosis OMIM:184300
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2
Vertebral segmentation defect, Short neck, 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
Christian Syndrome
Fused cervical vertebrae, Scoliosis, Prominent metopic ridge, Thoracic hemivertebrae OMIM:309620
Spondylometaphyseal Dysplasia, Type A4
Platyspondyly, Pectus carinatum, Irregular patellae, Osteoporotic tarsals, Costochondral joint sc... OMIM:609052
Klippel-Feil Syndrome 1, Autosomal Dominant
Cervical C2/C3 vertebral fusion, Short neck, Sprengel anomaly, Abnormal rib morphology, Scoliosis... OMIM:118100
Myotonia With Skeletal Abnormalities And Impaired Intellectual Development
Pectus carinatum, Vertebral wedging, Genu valgum, Bell-shaped thorax, Kyphoscoliosis OMIM:255710
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A
Pectus carinatum, Popliteal pterygium, Arthrogryposis multiplex congenita, Cervical spinal canal ... OMIM:178110
Cerebrofaciothoracic Dysplasia
Narrow chest, Vertebral segmentation defect, Rib fusion, Short neck, Sprengel anomaly, Bifid ribs... ORPHA:1394
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Abnormal clavicle morphology, Short neck, Hyperlordosis, Abnormal rib morphology, Pectus excavatu... ORPHA:2522
Wildervanck Syndrome
Fused cervical vertebrae OMIM:314600
Developmental And Speech Delay Due To Sox5 Deficiency
Pectus carinatum, Lumbar hyperlordosis, Butterfly vertebrae, Vertebral fusion, Thoracic kyphoscol... ORPHA:313892
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome
Abnormal form of the vertebral bodies, Abnormality of the humeroulnar joint, Short neck, Hemivert... ORPHA:2234
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3
Thin ribs, Platyspondyly, Multiple joint dislocation, Knee dislocation, Joint hypermobility, Narr... OMIM:618395
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 2
Pectus excavatum, Shield chest, Short neck, Thoracic scoliosis OMIM:616994
Spondylometaphyseal Dysplasia, Axial
Platyspondyly, Narrow chest, Thoracic hypoplasia, Anterior rib cupping, Scoliosis OMIM:602271
Pontine Tegmental Cap Dysplasia
Rib fusion, Scoliosis, Hemivertebrae, Ankle clonus OMIM:614688
Multiple Pterygium Syndrome, X-Linked
Thin ribs, Joint dislocation, Increased susceptibility to fractures, Multiple pterygia, Vertebral... OMIM:312150
Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant
Platyspondyly, Pectus carinatum, Hypoplasia of the odontoid process, Lumbar hyperlordosis, Avascu... OMIM:184100
Spondyloepimetaphyseal Dysplasia, Irapa Type
Platyspondyly, Pectus carinatum, Hypoplastic sacrum, Lumbar hyperlordosis, Genu valgum, Limited e... OMIM:271650
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly
Narrow chest, Acetabular spurs, Horizontal ribs, Short ribs, Trident acetabulum, Lateral clavicle... OMIM:617405
Metatropic Dysplasia
Hypoplasia of the odontoid process, Caudal appendage, Genu valgum, Flat acetabular roof, Delayed ... OMIM:156530
Spondyloepimetaphyseal Dysplasia, Irapa Type
Platyspondyly, Pectus carinatum, Synostosis of carpal bones, Limitation of joint mobility, Abnorm... ORPHA:93351
Familial Congenital Mirror Movements
Fused cervical vertebrae ORPHA:238722
Multiple Pterygium Syndrome, Lethal Type
Thin ribs, Joint dislocation, Increased susceptibility to fractures, Multiple pterygia, Vertebral... OMIM:253290
Lethal Congenital Contracture Syndrome Type 1
Limitation of joint mobility, Abnormal form of the vertebral bodies, Short neck, Abnormal rib mor... ORPHA:1486
Greenberg Dysplasia
Platyspondyly, Narrow chest, Abnormal form of the vertebral bodies, Abnormal pelvis bone ossifica... ORPHA:1426
Brachydactyly, Type B1
Joint contracture of the hand, Hypoplastic sacrum, Delayed cranial suture closure, Thoracolumbar ... OMIM:113000
Gorlin Syndrome
Abnormal vertebral morphology, Vertebral wedging, Abnormal rib morphology, Rib fusion, Bifid ribs... ORPHA:377
Multiple Pterygium Syndrome, Escobar Variant
Intercrural pterygium, Dysplastic patella, Patellar aplasia, Short neck, Thoracolumbar scoliosis,... OMIM:265000
Keratoconus Posticus Circumscriptus
Short neck, Limited elbow extension and supination, Abnormal vertebral segmentation and fusion OMIM:244600
Spinal Dysplasia, Anhalt Type
Thoracic hemivertebrae, Narrow anterio-posterior vertebral body diameter, Osteoarthritis of the s... OMIM:601344
Isolated Hemihyperplasia
Asymmetry of the thorax, Scoliosis ORPHA:2128
Ring Chromosome 21 Syndrome
Abnormal thorax morphology, Scoliosis, Fused thoracic vertebrae, Thoracic hemivertebrae ORPHA:1445
Fibrochondrogenesis 2
Platyspondyly, Thoracic hypoplasia, Bell-shaped thorax, Short ribs, Cupped ribs OMIM:614524
Kbg Syndrome
Delayed skeletal maturation, Cervical ribs, Persistent open anterior fontanelle, Short neck, Vert... ORPHA:2332
White Forelock With Malformations
Delayed skeletal maturation, Joint hypermobility, Sprengel anomaly, Abnormal rib morphology, Spin... ORPHA:2475
Hypersulfaturia
Costochondral pain OMIM:620372
Laryngotracheoesophageal Cleft Type 4
Abnormal form of the vertebral bodies, Abnormal rib morphology ORPHA:93941
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Platyspondyly, Lumbar hyperlordosis, Distal ulnar epiphyseal stippling, Cupped ribs, Beaking of v... OMIM:609616
Ophthalmoplegia, External, With Rib And Vertebral Anomalies
Pectus carinatum, Short ribs, Missing ribs, Pectus excavatum, Scoliosis OMIM:618155
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Platyspondyly, Narrow chest, Abnormal clavicle morphology, Decreased skull ossification, Short ne... ORPHA:93267
Kniest Dysplasia
Platyspondyly, Delayed epiphyseal ossification, Hypoplasia of the odontoid process, Vertebral wed... ORPHA:485
Congenital Disorder Of Glycosylation, Type Iig
Posterior rib gap, Osteopenia, Shallow acetabular fossae, Butterfly vertebrae, Thoracic scoliosis... OMIM:611209
Proximal 16P11.2 Microdeletion Syndrome
Rib fusion, Craniosynostosis, Scoliosis, Abnormal vertebral morphology ORPHA:261197
Autosomal Recessive Multiple Pterygium Syndrome
Axillary pterygium, Popliteal pterygium, Limitation of joint mobility, Arthrogryposis multiplex c... ORPHA:2990
Thoracomelic Dysplasia
Narrow chest, Elbow dislocation, Bell-shaped thorax, Genu valgum, Short ribs, Joint hypermobility... ORPHA:1803
Septopreoptic Holoprosencephaly
Abnormal vertebral morphology, Abnormal rib morphology ORPHA:280195
Spondyloepiphyseal Dysplasia, Maroteaux Type
Platyspondyly, Pectus carinatum, Atlantoaxial instability, Genu valgum, Kyphoscoliosis, Short nec... OMIM:184095
Axial Spondylometaphyseal Dysplasia
Platyspondyly, Osteopenia, Narrow chest, Posterior wedging of vertebral bodies, Thoracic hypoplas... ORPHA:168549
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies
Joint hypermobility, Pectus excavatum, Hypoplastic distal segments of scapulae, Abnormal rib morp... OMIM:602196
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
Abnormal vertebral morphology, Limitation of joint mobility, Genu valgum, Intervertebral space na... ORPHA:93315
Juberg-Hayward Syndrome
Abnormal vertebral morphology, Abnormality of the wrist, Radioulnar synostosis, Abnormal rib morp... ORPHA:2319
Spondylometaphyseal Dysplasia, Kozlowski Type
Abnormal rib cage morphology, Pectus carinatum, Platyspondyly, Hypoplasia of the odontoid process... OMIM:184252
Mosaic Trisomy 14
Short neck, Narrow chest, Camptodactyly of finger, Abnormal rib morphology ORPHA:1703
Microphthalmia, Syndromic 3
Butterfly vertebrae, Missing ribs, Supernumerary ribs, Rib fusion, Hemivertebrae, Vertebral fusio... OMIM:206900
Osteogenesis Imperfecta, Type Xviii
Thin ribs, Biconcave vertebral bodies, Joint hypermobility, Wormian bones, Generalized osteoporos... OMIM:617952
Wildervanck Syndrome
Short neck, Fused cervical vertebrae ORPHA:3456
Osteogenesis Imperfecta, Type Xxi
Platyspondyly, Bell-shaped thorax, Barrel-shaped chest, Joint hypermobility, Wormian bones, Osteo... OMIM:619131
Diastrophic Dysplasia
Hypoplastic cervical vertebrae, Abnormal clavicle morphology, Abnormal form of the vertebral bodi... ORPHA:628
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Abnormal form of the vertebral bodies, Sprengel anomaly, Hemivertebrae, Abnormal rib morphology, ... ORPHA:2180
Spondyloepiphyseal Dysplasia Tarda, X-Linked
Platyspondyly, Hip osteoarthritis, Hump-shaped mound of bone in central and posterior portions of... OMIM:313400
Mucopolysaccharidosis Type 4
Platyspondyly, Pectus carinatum, Joint dislocation, Short thorax, Delayed skeletal maturation, Sp... ORPHA:582
Spondyloepimetaphyseal Dysplasia, Strudwick Type
Platyspondyly, Pectus carinatum, Hypoplasia of the odontoid process, Genu valgum, Delayed pubic b... OMIM:184250
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Abnormal form of the vertebral bodies, Joint hypermobility, Missing ribs, Hemivertebrae, Abnormal... ORPHA:2759
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome
Abnormal form of the vertebral bodies, Elbow dislocation, Hypoplastic vertebral bodies, Hemiverte... ORPHA:2916
Idiopathic Juvenile Osteoporosis
Kyphosis, Osteoporosis, Vertebral compression fracture, Recurrent fractures, Bone pain ORPHA:85193
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Elbow contracture, Hyperlordosis, Achilles tendon contracture, Vertebral fusion, Scoliosis, Kyphosis OMIM:606612
Osteogenesis Imperfecta, Type Ii
Thin ribs, Platyspondyly, Thoracic hypoplasia, Bell-shaped thorax, Multiple rib fractures, Wormia... OMIM:166210
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type
Platyspondyly, Thoracic hypoplasia, Posterior rib cupping, Lumbar hyperlordosis, Limited elbow ex... OMIM:608728
Osteogenesis Imperfecta, Type Iii
Thin ribs, Recurrent fractures, Bowing of limbs due to multiple fractures, Biconcave vertebral bo... OMIM:259420
Mucopolysaccharidosis, Type X
Platyspondyly, Broad clavicles, Irregular acetabular roof, Broad ribs, Genu valgum, Spatulate rib... OMIM:619698
Mucopolysaccharidosis, Type Iva
Platyspondyly, Pectus carinatum, Hypoplasia of the odontoid process, Ulnar deviation of the wrist... OMIM:253000
Kbg Syndrome
Delayed skeletal maturation, Cervical ribs, Rib fusion, Short neck, Vertebral fusion, Vertebral a... OMIM:148050
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
Narrow chest, Joint hypermobility, Rib fusion, Short neck, Sprengel anomaly, Beaking of vertebral... OMIM:213980
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Hyperlordosis, Achilles tendon contracture, Vertebral fusion, Scoliosis, Kyphosis OMIM:607155
Spondyloepimetaphyseal Dysplasia, Missouri Type
Pear-shaped vertebrae, Platyspondyly, Delayed skeletal maturation, Limited elbow extension, Genu ... OMIM:602111
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Osteopenia, Broad ribs, Osteomyelitis, Joint swelling, Flaring of rib cage, Osteolysis, Fused cer... OMIM:612852
Achondrogenesis Type 1B
Narrow chest, Abnormal enchondral ossification, Short thorax, Short neck, Abnormal rib morphology ORPHA:93298
Cole-Carpenter Syndrome
Kyphosis, Abnormal form of the vertebral bodies, Joint hypermobility, Wormian bones, Abnormal rib... ORPHA:2050
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Sprengel anomaly, Abnormality of the vertebral column, Abnormal rib morphology OMIM:601076
Holt-Oram Syndrome
Abnormal clavicle morphology, Joint stiffness, Down-sloping shoulders, Radioulnar synostosis, Spr... ORPHA:392
Craniodiaphyseal Dysplasia
Abnormal rib morphology ORPHA:1513
Grant Syndrome
Abnormality of the glenoid fossa, Narrow chest, Joint dislocation, Decreased skull ossification, ... ORPHA:2097
Aicardi Syndrome
Block vertebrae, Butterfly vertebrae, Missing ribs, Supernumerary ribs, Rib fusion, Bifid ribs, S... ORPHA:50
Schneckenbecken Dysplasia
Platyspondyly, Narrow chest, Hypoplastic scapulae, Thoracic hypoplasia, Advanced tarsal ossificat... OMIM:269250
Caudal Regression Syndrome
Aplasia/Hypoplasia of the sacrum, Joint stiffness, Missing ribs, Hypoplastic vertebral bodies, Sc... ORPHA:3027
Osteogenesis Imperfecta, Type Xvi
Platyspondyly, Osteopenia, Narrow chest, Decreased calvarial ossification, Multiple rib fractures... OMIM:616229
Short Stature And Facioauriculothoracic Malformations
Pectus carinatum, Cervical ribs, Abnormal odontoid process morphology, Short neck, Pectus excavatum OMIM:609654
Fibrochondrogenesis
Narrow chest, Hypoplastic scapulae, Abnormal form of the vertebral bodies, Camptodactyly of finge... ORPHA:2021
Infantile-Onset X-Linked Spinal Muscular Atrophy
Ankle flexion contracture, Interphalangeal joint contracture of finger, Elbow flexion contracture... ORPHA:1145
Phaver Syndrome
Abnormal form of the vertebral bodies, Camptodactyly of finger, Pterygium, Joint stiffness, Butte... ORPHA:2876
Cog1-Cdg
Posterior rib gap, Osteopenia, Butterfly vertebrae, Vertebral segmentation defect, Rib fusion, Ky... ORPHA:263508
Spondylocarpotarsal Synostosis Syndrome
Pectus carinatum, Block vertebrae, Hypoplasia of the odontoid process, Delayed skeletal maturatio... OMIM:272460
Thanatophoric Dysplasia, Type Ii
Small abnormally formed scapulae, Platyspondyly, Narrow chest, Short ribs, Wide-cupped costochond... OMIM:187601
Otopalatodigital Syndrome Type 1
Synostosis of carpal bones, Limitation of joint mobility, Elbow dislocation, Increased bone miner... ORPHA:90650
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Thin ribs, 11 pairs of ribs, Platyspondyly, Decreased skull ossification OMIM:300863
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Narrow chest, Thoracic dysplasia, Bell-shaped thorax, Horizontal ribs, Lateral clavicle hook OMIM:615633
Aarskog-Scott Syndrome
Genu recurvatum, Camptodactyly of finger, Joint hypermobility, Abnormality of the cervical spine,... ORPHA:915
Frontometaphyseal Dysplasia 1
Ankle flexion contracture, Partial fusion of tarsals, Interphalangeal joint contracture of finger... OMIM:305620
Cooper-Jabs Syndrome
Camptodactyly of finger, Reduced bone mineral density, Joint hypermobility, Missing ribs, Abnorma... ORPHA:1488
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism
Acetabular dysplasia, Cervical C2/C3 vertebral fusion, Short neck, Thoracolumbar scoliosis, Flexi... OMIM:616549
Dyggve-Melchior-Clausen Disease
Platyspondyly, Pectus carinatum, Hypoplasia of the odontoid process, Atlantoaxial instability, Ab... ORPHA:239
Verheij Syndrome
Joint hypermobility, Short neck, Hemivertebrae, Vertebral fusion, Scoliosis, Hip dislocation OMIM:615583
Aicardi Syndrome
Block vertebrae, Butterfly vertebrae, Missing ribs, Supernumerary ribs, Rib fusion, Bifid ribs, H... OMIM:304050
Pseudoachondroplasia
Platyspondyly, Atlantoaxial dislocation, Delayed epiphyseal ossification, Hypoplasia of the odont... OMIM:177170
Lamb-Shaffer Syndrome
Scoliosis, Fused cervical vertebrae, Thoracic kyphosis ORPHA:530983
Mucopolysaccharidosis, Type Iiia
Joint stiffness, Thickened ribs, Ovoid thoracolumbar vertebrae, Scoliosis, Dense calvaria OMIM:252900
Basal Cell Nevus Syndrome 1
Vertebral wedging, Abnormal sternum morphology, Down-sloping shoulders, Supernumerary ribs, Short... OMIM:109400
Achondrogenesis Type 1A
Narrow chest, Abnormal enchondral ossification, Multiple rib fractures, Short neck, Short thorax,... ORPHA:93299
Congenital Pseudoarthrosis Of The Clavicle
Congenital pseudoarthrosis of the clavicle, Cervical ribs ORPHA:66630
Spondyloepimetaphyseal Dysplasia, Shohat Type
Platyspondyly, Delayed epiphyseal ossification, Central vertebral hypoplasia, Lumbar hyperlordosi... OMIM:602557
Mosaic Trisomy 20
Narrow chest, Spinal canal stenosis, Vertebral segmentation defect, Down-sloping shoulders, Limit... ORPHA:1724
3M Syndrome
Thin ribs, Congenital hip dislocation, Delayed skeletal maturation, Increased vertebral height, H... ORPHA:2616
Melnick-Needles Syndrome
Anisospondyly, Narrow chest, Short thorax, Delayed cranial suture closure, Joint hypermobility, S... ORPHA:2484
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Thin ribs, Thoracolumbar kyphosis, Narrow chest, Thoracic hypoplasia, Disc-like vertebral bodies,... OMIM:151210
Mucopolysaccharidosis, Type Iiib
Joint stiffness, Ovoid thoracolumbar vertebrae, Thickened ribs, Dense calvaria OMIM:252920
Cole-Carpenter Syndrome 2
Thin ribs, Platyspondyly, Lambdoidal craniosynostosis, Osteopenia, Coronal craniosynostosis, Recu... OMIM:616294
Larsen Syndrome
Pectus carinatum, Spondylolysis, Cervical kyphosis, Hypoplastic cervical vertebrae, Elbow disloca... OMIM:150250
Ehlers-Danlos Syndrome, Classic-Like, 2
Osteopenia, Knee dislocation, Thoracic scoliosis, Cervical C2/C3 vertebral fusion, Generalized jo... OMIM:618000
Mucopolysaccharidosis, Type Iiic
Joint stiffness, Kyphoscoliosis, Ovoid thoracolumbar vertebrae, Beaking of vertebral bodies, Thic... OMIM:252930
Alkaptonuria
Limited hip movement, Intervertebral disk degeneration, Arthropathy, Low back pain, Limited shoul... 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
Hypoplastic scapulae, Hypoplasia of the odontoid process, Limitation of joint mobility, Genu valg... OMIM:223800
Fibrodysplasia Ossificans Progressiva
Small cervical vertebral bodies, Ectopic ossification in ligament tissue, Progressive cervical ve... OMIM:135100
Osteogenesis Imperfecta, Type Viii
Thin ribs, Platyspondyly, Osteopenia, Recurrent fractures, Barrel-shaped chest, Decreased skull o... OMIM:610915
Robinow Syndrome, Autosomal Recessive 1
Hypoplastic sacrum, Delayed skeletal maturation, Thoracic hemivertebrae, Delayed cranial suture c... OMIM:268310
Vertebral Hypersegmentation And Orofacial Anomalies
Joint hypermobility, Supernumerary ribs, Six lumbar vertebrae, Scapular winging, Pectus excavatum OMIM:619122
Cervical Ribs, Sprengel Anomaly, Anal Atresia, And Urethral Obstruction
Sprengel anomaly, Thoracolumbar scoliosis, Cervical ribs OMIM:601389
Metaphyseal Chondrodysplasia, Schmid Type
Abnormal vertebral morphology, Platyspondyly, Osteosclerosis of ribs, Lumbar hyperlordosis, Anter... ORPHA:174
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Butterfly vertebrae, Sprengel anomaly, Spina bifida occulta, Pectus excavatum, Fused cervical ver... OMIM:619227
Garg-Mishra Progeroid Syndrome
Thin ribs, Platyspondyly, Narrow chest, Persistent open anterior fontanelle, Ovoid vertebral bodies OMIM:620601
Jeune Syndrome
Narrow chest, Abnormal clavicle morphology, Short thorax, Abnormal sternum morphology, Abnormal r... ORPHA:474
Achondrogenesis, Type Ia
Broad clavicles, Hypoplastic scapulae, Narrow chest, Unossified vertebral bodies, Hypoplastic sac... OMIM:200600
Autosomal Recessive Robinow Syndrome
Pectus carinatum, Synostosis of carpal bones, Elbow dislocation, Camptodactyly of finger, Vertebr... ORPHA:1507
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome
Rib fusion, Sacral dimple ORPHA:544488
Spondyloepimetaphyseal Dysplasia, Shohat Type
Abnormal vertebral morphology, Platyspondyly, Delayed epiphyseal ossification, Thoracic hypoplasi... ORPHA:93352
Osteogenesis Imperfecta, Type X
Thin ribs, Platyspondyly, Narrow chest, Osteopenia, Thoracic hypoplasia, Broad ribs, Genu valgum,... OMIM:613848
Wolf-Hirschhorn Syndrome
Abnormal vertebral morphology, Abnormality of the vertebral column, Abnormal form of the vertebra... ORPHA:280
Mucopolysaccharidosis Type 6
Broad ribs, Joint stiffness, Genu valgum, Short neck, Kyphosis, Ovoid vertebral bodies ORPHA:583
Femoral-Facial Syndrome
Absent vertebra, Hypoplastic acetabulae, Dysplastic sacrum, Camptodactyly of finger, 11 pairs of ... OMIM:134780
Craniodiaphyseal Dysplasia, Autosomal Dominant
Diaphyseal sclerosis, Thickened ribs, Craniofacial osteosclerosis, Cortical sclerosis OMIM:122860
Holzgreve Syndrome
Joint stiffness, Abnormally ossified vertebrae, Abnormal rib morphology ORPHA:2167
Lateral Meningocele Syndrome
Sclerosis of skull base, Biconcave vertebral bodies, Joint hypermobility, Wormian bones, Short ne... OMIM:130720
Brachytelephalangic Chondrodysplasia Punctata
Cervical kyphosis, Hypoplastic cervical vertebrae, Abnormality of the costochondral junction, Cer... ORPHA:79345
Thoracic Outlet Syndrome
Abnormal rib morphology ORPHA:97330
Prune Belly Syndrome
Congenital hip dislocation, Vertebral segmentation defect, Abnormal rib morphology, Pectus excava... 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, Limitation of joint mobility, Delayed skeletal maturation, Hyperlordosis, Abnor... ORPHA:3068
Thrombocytopenia-Absent Radius Syndrome
Cervical ribs, Aplasia/Hypoplasia of the patella, Genu varum, Patellar dislocation, Scoliosis, Hi... ORPHA:3320
Thin Ribs-Tubular Bones-Dysmorphism Syndrome
Abnormal rib morphology ORPHA:1506
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome
Pectus carinatum, Short neck, Kyphosis, Abnormal rib morphology ORPHA:3082
Mucopolysaccharidosis, Type Ivb
Platyspondyly, Hypoplasia of the odontoid process, Ulnar deviation of the wrist, Joint stiffness,... OMIM:253010
Axial Mesodermal Dysplasia Spectrum
Abnormal form of the vertebral bodies, Vertebral segmentation defect, Missing ribs, Short neck, A... ORPHA:1834
Dysosteosclerosis
Platyspondyly, Osteopenia, Narrow chest, Sclerosis of hand bone, Broad ribs, Sclerosis of skull b... OMIM:224300
Koolen-De Vries Syndrome
Hip dislocation, Vertebral segmentation defect, Joint hypermobility, Vertebral fusion, Pectus exc... ORPHA:96169
Three M Syndrome 2
Thin ribs, Pectus carinatum, Delayed skeletal maturation, Lumbar hyperlordosis, Short neck, Hyper... OMIM:612921
Cardiospondylocarpofacial Syndrome
Delayed skeletal maturation, Carpal synostosis, Fusion of middle ear ossicles, Herniation of inte... OMIM:157800
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Joint hypermobility, Decreased calvarial ossification, Recurrent fractures, Abnormal rib morphology ORPHA:2772
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy
Thin ribs, Platyspondyly, Hypoplasia of the odontoid process, Delayed skeletal maturation, Kyphos... OMIM:300232
Cenani-Lenz Syndrome
Synostosis of joints, Synostosis of carpal bones, Abnormal form of the vertebral bodies, Elbow di... ORPHA:3258
Fibrochondrogenesis 1
Thin ribs, Platyspondyly, Hypoplastic scapulae, Joint contracture of the hand, Widely patent coro... OMIM:228520
Lethal Kniest-Like Dysplasia
Platyspondyly, Narrow chest, Short ribs, Hypoplastic vertebral bodies, Short neck, Anterior rib c... ORPHA:2347
Achondrogenesis, Type Ii
Absent vertebral body mineralization, Horizontal ribs, Barrel-shaped chest, Short ribs OMIM:200610
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Osteopenia, Broad ribs, Wormian bones, Increased bone mineral density, Vertebral arch anomaly ORPHA:85184
Acro-Renal-Mandibular Syndrome
Thin ribs, Pectus carinatum, Hypoplastic scapulae, Hip dislocation, Abnormal clavicle morphology,... ORPHA:958
Microcephalic Primordial Dwarfism, Toriello Type
Delayed skeletal maturation, Abnormal rib morphology ORPHA:2643
Atelosteogenesis, Type I
Narrow chest, Thoracic hypoplasia, Elbow dislocation, Knee dislocation, Thoracic platyspondyly, 1... OMIM:108720
Spondylometaphyseal Dysplasia, Algerian Type
Platyspondyly, Lumbar hyperlordosis, Genu valgum, Kyphoscoliosis, Carpal bone hypoplasia, Anterio... OMIM:184253
Gm1-Gangliosidosis, Type I
Joint stiffness, Hypoplastic vertebral bodies, Short neck, Beaking of vertebral bodies, Scoliosis... OMIM:230500
Mucolipidosis Iii Alpha/Beta
Shallow acetabular fossae, Limitation of joint mobility, Broad ribs, Irregular carpal bones, Spon... OMIM:252600
Familial Osteodysplasia, Anderson Type
Aplastic clavicle, Abnormal form of the vertebral bodies, Elbow dislocation, Recurrent fractures,... ORPHA:2769
Thanatophoric Dysplasia, Type I
Small abnormally formed scapulae, Platyspondyly, Narrow chest, Thoracic hypoplasia, Short ribs, W... OMIM:187600
Robinow Syndrome
Kyphoscoliosis, Missing ribs, Rib fusion, Hemivertebrae, Fused thoracic vertebrae, Scoliosis ORPHA:97360
Chromosome 8Q22.1 Duplication Syndrome
Genu recurvatum, Limitation of joint mobility, Interphalangeal joint contracture of finger, Joint... OMIM:151200
Bent Bone Dysplasia Syndrome 2
Thin ribs, Platyspondyly, Osteopenia, Hypoplastic acetabulae, Butterfly vertebrae, Short ribs, De... OMIM:620076
Hypophosphatasia
Craniosynostosis, Narrow chest, Recurrent fractures, Abnormal rib morphology ORPHA:436
Cornelia De Lange Syndrome 6
Pectus carinatum, Delayed skeletal maturation, Down-sloping shoulders, Posterior rib fusion, Scol... OMIM:620568
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness
Flat glenoid fossa, Lumbar hyperlordosis, Genu valgum, Short ribs, Joint hypermobility, Cupped ri... OMIM:250420
Zttk Syndrome
Cervical ribs, Joint hypermobility, Rib fusion, Hemivertebrae, Craniosynostosis, Flexion contract... OMIM:617140
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Vertebral segmentation defect, Abnormal rib morphology ORPHA:1120
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Platyspondyly, Osteopenia, Thoracic hypoplasia, Short ribs, Multiple rib fractures, Decreased sku... OMIM:616897
Pallister-Hall Syndrome
Rib fusion, Radial head subluxation, Hip dislocation, Hemivertebrae OMIM:146510
Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis
Cervical C2/C3 vertebral fusion, Camptodactyly, Joint hypermobility OMIM:617333
Cantú Syndrome
Platyspondyly, Narrow chest, Delayed skeletal maturation, Broad ribs, Cuboid-shaped vertebral bod... ORPHA:1517
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Thin ribs, Platyspondyly ORPHA:163966
Otopalatodigital Syndrome Type 2
Narrow chest, Synostosis of carpal bones, Elbow dislocation, Carpal synostosis, Camptodactyly of ... ORPHA:90652
Campomelia, Cumming Type
Abnormal thorax morphology, Abnormally ossified vertebrae, Abnormal rib morphology ORPHA:1318
Intellectual Developmental Disorder, Autosomal Dominant 52
Pectus carinatum, Lumbar hyperlordosis, Lumbar scoliosis, Cervical C2/C3 vertebral fusion, Scapul... OMIM:617796
Spondylometaphyseal Dysplasia, Sedaghatian Type
Platyspondyly, Narrow chest, Abnormal scapula morphology, Delayed skeletal maturation, Accelerate... ORPHA:93317
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly
Thoracolumbar kyphosis, Platyspondyly, Joint dislocation, Thoracic hypoplasia, Thoracic platyspon... OMIM:618019
Mayer-Rokitansky-Küster-Hauser Syndrome
Vertebral fusion, Abnormal sacrum morphology, Abnormal form of the vertebral bodies, Vertebral se... ORPHA:3109
Faciodigitogenital Syndrome, Autosomal Recessive
Abnormal rib cage morphology, Down-sloping shoulders, Hyperextensible hand joints, Vertebral fusi... OMIM:227330
Mosaic Trisomy 8
Narrow chest, Limitation of joint mobility, Arthrogryposis multiplex congenita, Camptodactyly of ... ORPHA:96061
Cat-Eye Syndrome
Abnormal rib morphology ORPHA:195
Otosclerosis 8
Otosclerosis OMIM:612096
Otosclerosis 3
Otosclerosis OMIM:608244
Craniometadiaphyseal Dysplasia
Osteopenia, Broad ribs, Sclerosis of skull base, Genu valgum, Wormian bones, Cubitus valgus, Scol... OMIM:269300
Wolf-Hirschhorn Syndrome
Hip dislocation, Abnormal form of the vertebral bodies, Delayed skeletal maturation, Rib segmenta... OMIM:194190
Baller-Gerold Syndrome
Abnormal vertebral morphology, Lambdoidal craniosynostosis, Coronal craniosynostosis, Patellar hy... OMIM:218600
Koolen-De Vries Syndrome
Hip dislocation, Spondylolisthesis, Joint hypermobility, Vertebral fusion, Pectus excavatum, Scol... OMIM:610443
Pyknoachondrogenesis
Abnormal intramembranous ossification, Unossified sacrum, Sclerosis of skull base, Horizontal rib... ORPHA:3003
Radio-Renal Syndrome
Short neck, Abnormality of the elbow, Abnormal form of the vertebral bodies, Abnormal rib morphology ORPHA:3015
Ossification Anomalies-Psychomotor Developmental Delay Syndrome
Thin ribs, Narrow chest, Abnormal form of the vertebral bodies, Abnormal thorax morphology, Abnor... ORPHA:73230
Cleidocranial Dysplasia
Narrow chest, Hypoplastic scapulae, Genu valgum, Down-sloping shoulders, Short clavicles, Decreas... ORPHA:1452
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome
Cervical C2/C3 vertebral fusion ORPHA:370010
Alagille Syndrome
Abnormal form of the vertebral bodies, Delayed skeletal maturation, Vertebral segmentation defect... ORPHA:52
Greenberg Dysplasia
Fractured rib, Supernumerary vertebral ossification centers, Barrel-shaped chest, Decreased skull... OMIM:215140
Sacral Agenesis With Vertebral Anomalies
Abnormal vertebral morphology, Absence of the sacrum, Vertebral clefting OMIM:615709
X-Linked Hypophosphatemia
Rachitic rosary, Limitation of joint mobility, Rickets, Sacroiliac joint synovitis, Enthesitis, G... ORPHA:89936
Renpenning Syndrome
Pectus excavatum, Joint stiffness, Sprengel anomaly, Abnormal rib morphology ORPHA:3242
Kyphomelic Dysplasia
Platyspondyly, Limitation of joint mobility, Thoracic hypoplasia, Pterygium, Undulate ribs, Anter... OMIM:211350
Poland Syndrome
Asymmetry of the thorax, Pectus carinatum, Abnormal sternum morphology, Aplasia/Hypoplasia of the... ORPHA:2911
Mucopolysaccharidosis, Type Vii
Thoracolumbar kyphosis, Pectus carinatum, Platyspondyly, Hypoplasia of the odontoid process, Ante... 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
Joint contracture of the hand, Interphalangeal joint contracture of finger, Camptodactyly of fing... ORPHA:1826
Cartilage-Hair Hypoplasia
Asymmetry of the thorax, Narrow chest, Hypoplasia of the odontoid process, Flaring of lower rib c... OMIM:250250
Sifrim-Hitz-Weiss Syndrome
Short clavicles, Wormian bones, Flat acetabular roof, Fused cervical vertebrae OMIM:617159
1P36 Deletion Syndrome
Delayed cranial suture closure, Camptodactyly of finger, 11 pairs of ribs, Joint stiffness, Rib f... ORPHA:1606
Antley-Bixler Syndrome
Narrow chest, Delayed cranial suture closure, Camptodactyly of finger, Joint stiffness, Elbow ank... ORPHA:83
Otosclerosis 10
Otosclerosis OMIM:615589
Osteogenesis Imperfecta, Type Vii
Osteopenia, Narrow chest, Delayed cranial suture closure, Decreased calvarial ossification, Multi... OMIM:610682
Autosomal Recessive Kenny-Caffey Syndrome
Thin ribs, Delayed skeletal maturation, Delayed cranial suture closure, Decreased skull ossificat... ORPHA:93324
Autosomal Dominant Popliteal Pterygium Syndrome
Joint stiffness, Popliteal pterygium, Scoliosis, Abnormal rib morphology ORPHA:1300
Kenny-Caffey Syndrome, Type 1
Thin ribs, Delayed skeletal maturation, Decreased skull ossification, Delayed closure of the ante... OMIM:244460
Craniosynostosis, Herrmann-Opitz Type
Craniosynostosis, Abnormal rib morphology ORPHA:2145
Cartilage-Hair Hypoplasia
Pectus carinatum, Narrow chest, Biconvex vertebral bodies, Short thorax, Abnormal form of the ver... ORPHA:175
Occipital Horn Syndrome
Platyspondyly, Pectus carinatum, Narrow chest, Broad clavicles, Persistent open anterior fontanel... OMIM:304150
Trisomy 13
Narrow chest, Scoliosis, Kyphosis, Abnormal rib morphology ORPHA:3378
Congenital Myopathy 22B, Severe Fetal
Thin ribs, Shoulder flexion contracture, Thoracic hypoplasia, Elbow flexion contracture, Hip cont... OMIM:620369
Shashi-Pena Syndrome
Cervical C2/C3 vertebral fusion, Accelerated skeletal maturation, Osteoporosis, Scoliosis, Kyphosis OMIM:617190
Hurler Syndrome
Abnormal vertebral morphology, Abnormal clavicle morphology, Limitation of joint mobility, Spinal... ORPHA:93473
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Cervical ribs, Lumbar hyperlordosis, Kyphoscoliosis, Rib fusion, Joint hypermobility, Sagittal cr... ORPHA:500150
Otosclerosis 1
Otosclerosis OMIM:166800
Kagami-Ogata Syndrome
Thin ribs, Bell-shaped thorax, Kyphoscoliosis, Long clavicles, Flexion contracture OMIM:608149
Myhre Syndrome
Platyspondyly, Limitation of joint mobility, Broad ribs, Enlarged vertebral pedicles, Joint stiff... OMIM:139210
Aspergillosis
Osteomyelitis, Abnormality of the vertebral column, Abnormal rib morphology ORPHA:1163
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development
Thin ribs, Craniosynostosis, Arthrogryposis multiplex congenita, Decreased calvarial ossification OMIM:618265
Meier-Gorlin Syndrome 1
Thin ribs, Joint contracture of the hand, Elbow dislocation, Genu valgum, Patellar aplasia, Aplas... OMIM:224690
Nestor-Guillermo Progeria Syndrome
Thin ribs, Pathologic fracture, Joint stiffness, Mandibular osteolysis, Limited elbow movement, R... OMIM:614008
Opsismodysplasia
Narrow chest, Hypoplasia of the odontoid process, Posterior rib cupping, Bell-shaped thorax, Hypo... OMIM:258480
Acromesomelic Dysplasia 4
Platyspondyly, Thoracic platyspondyly, Lumbar hyperlordosis, Genu valgum, Thoracic scoliosis, Pro... OMIM:619636
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Narrow chest, Thoracic hypoplasia, Horizontal ribs, Short ribs, Lateral clavicle hook OMIM:617895
Camptodactyly Syndrome, Guadalajara Type 3
Osteopenia, Delayed skeletal maturation, Short neck, Abnormal rib morphology, Spina bifida occulta ORPHA:488434
X-Linked Myotubular Myopathy-Abnormal Genitalia Syndrome
Thin ribs, Joint hypermobility ORPHA:456328
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
Carpal synostosis, Genu valgum, Short neck, Radial head subluxation, Advanced ossification of car... OMIM:271640
Shwachman-Diamond Syndrome 1
Narrow chest, Delayed skeletal maturation, Irregular ossification at anterior rib ends, Anterior ... OMIM:260400
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
Thin ribs, Osteopenia, Lumbar hemivertebrae, Delayed skeletal maturation, Joint hypermobility, Ab... ORPHA:2463
Vacterl/Vater Association
Vertebral segmentation defect, Abnormal sacrum morphology, Abnormal intervertebral disk morpholog... ORPHA:887
Mucopolysaccharidosis, Type Vi
Pectus carinatum, Hypoplasia of the odontoid process, Hypoplastic acetabulae, Anterior wedging of... OMIM:253200
Shprintzen-Goldberg Craniosynostosis Syndrome
Thin ribs, Pectus carinatum, Joint contracture of the hand, Osteopenia, Genu recurvatum, Genu val... OMIM:182212
Osteogenesis Imperfecta
Thin ribs, Enlarged vertebral pedicles, Genu valgum, Decreased skull ossification, Dislocated rad... ORPHA:666
Lethal Congenital Contracture Syndrome 5
Thin ribs, Flexion contracture, Congenital contracture OMIM:615368
Arnold-Chiari Malformation Type I
Stiff neck, Cervical C2/C3 vertebral fusion, Anteriorly placed odontoid process, Scoliosis, Fused... ORPHA:268882
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Broad ribs, Abnormal sternum morphology, Abnormal rib morphology, Short ribs ORPHA:2519
Lethal Congenital Contracture Syndrome 10
Narrow chest, Stiff neck, Broad ribs, Thoracic scoliosis, Short neck OMIM:617022
Schwartz-Jampel Syndrome
Elbow dislocation, Genu valgum, Hip contracture, Short neck, Sprengel anomaly, Protrusio acetabul... ORPHA:800
Multiple Pterygium-Malignant Hyperthermia Syndrome
Arthrogryposis multiplex congenita, Camptodactyly of finger, Abnormal rib morphology, Pectus exca... ORPHA:2215
Fanconi Anemia, Complementation Group I
Short neck, Fused cervical vertebrae OMIM:609053
Acrorenal-Mandibular Syndrome
Thin ribs, Narrow chest, Hypoplastic scapulae, Abnormal sacral segmentation, Elbow flexion contra... OMIM:200980
Sclerosteosis 1
Broad clavicles, Broad ribs, Sclerotic vertebral endplates, Sclerotic scapulae OMIM:269500
Monosomy 9Q22.3
Abnormality of the vertebral column, Metopic synostosis, Joint hypermobility, Short neck, Acceler... ORPHA:77301
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Hypermobility of interphalangeal joints, Thoracic hemivertebrae, Thoracic scoliosis, Generalized ... ORPHA:508498
Acrocapitofemoral Dysplasia
Pectus carinatum, Narrow chest, Delayed ossification of carpal bones, Lumbar hyperlordosis, Short... OMIM:607778
Simpson-Golabi-Behmel Syndrome
Congenital hip dislocation, Camptodactyly of finger, Vertebral segmentation defect, Short neck, A... ORPHA:373
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type
Platyspondyly, Pectus carinatum, Narrow chest, Hypoplasia of the odontoid process, Progressive ca... OMIM:271665
Severe Congenital Nemaline Myopathy
Thin ribs, Abnormal thorax morphology, Multiple prenatal fractures, Flexion contracture, Arthrogr... ORPHA:171430
Thakker-Donnai Syndrome
Cervical C2/C3 vertebral fusion, Short neck, Hemivertebrae ORPHA:1780
Chromosome 1P36 Deletion Syndrome, Distal
Delayed skeletal maturation, Camptodactyly of finger, 11 pairs of ribs, Rib fusion, Delayed closu... 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
Thoracic hypoplasia, Acetabular spurs, Horizontal ribs, Short ribs, Scoliosis, Lateral clavicle hook OMIM:613091
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Platyspondyly, Joint stiffness, Cupped ribs, Severe platyspondyly, Scoliosis, Ovoid vertebral bodies OMIM:608940
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Platyspondyly, Pectus carinatum, Narrow chest, Thoracic dysplasia, Horizontal ribs, Short ribs, L... OMIM:263520
Mucopolysaccharidosis, Type Iiid
Elbow flexion contracture, Joint stiffness, Thoracic scoliosis, Pilonidal sinus, Hypoplastic vert... OMIM:252940
Lenz-Majewski Hyperostotic Dwarfism
Broad clavicles, Delayed skeletal maturation, Delayed cranial suture closure, Elbow flexion contr... OMIM:151050
Fibrous Dysplasia Of Bone
Abnormal clavicle morphology, Rickets, Osteomalacia, Pathologic fracture, Abnormal lumbar spine m... ORPHA:249
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Platyspondyly, Cupped ribs, Scoliosis, Ovoid vertebral bodies ORPHA:85167
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion
Thoracic hypoplasia, Joint hypermobility, Prominent sternum, Flexion contracture of finger, Wrist... ORPHA:254528
Kagami-Ogata Syndrome
Limitation of joint mobility, Thoracic hypoplasia, Bell-shaped thorax, Kyphoscoliosis, Short neck... ORPHA:254519
Duane-Radial Ray Syndrome
Spina bifida occulta, Scoliosis, Fused cervical vertebrae, Shoulder dislocation OMIM:607323
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Posterior rib fusion, Butterfly vertebrae OMIM:265380
Apert Syndrome
Delayed epiphyseal ossification, Pectus carinatum, Lambdoidal craniosynostosis, Coronal craniosyn... OMIM:101200
Van Den Ende-Gupta Syndrome
Thin ribs, Hypoplastic scapulae, Joint contracture of the hand, Camptodactyly of 2nd-5th fingers,... OMIM:600920
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Abnormal vertebral morphology, Hypoplastic scapulae, Limitation of joint mobility, Humeroradial s... ORPHA:95699
Cerebrocostomandibular Syndrome
Posterior rib gap, Congenital hip dislocation, Thoracic hypoplasia, Rib gap, Elbow flexion contra... OMIM:117650
Ellis-Van Creveld Syndrome
Pectus carinatum, Narrow chest, Acetabular spurs, Genu valgum, Horizontal ribs, Short ribs, Capit... OMIM:225500
Premature Aging Syndrome, Penttinen Type
Thin ribs, Delayed skeletal maturation, Delayed cranial suture closure, Cervical ribs, Wormian bo... OMIM:601812
Weill-Marchesani Syndrome 1
Spinal canal stenosis, Broad ribs, Joint stiffness, Lumbar hyperlordosis, Scoliosis OMIM:277600
Spondylometaphyseal Dysplasia, Sedaghatian Type
Platyspondyly, Delayed epiphyseal ossification, Narrow chest, 11 pairs of ribs, Short ribs, Cuppe... OMIM:250220
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Bell-shaped thorax, Horizontal ribs, Delayed skeletal maturation OMIM:614857
Frontometaphyseal Dysplasia 2
Congenital hip dislocation, Elbow contracture, Hip contracture, Camptodactyly, Pectus excavatum, ... OMIM:617137
Pallister-Hall Syndrome
Rib fusion, Distal arthrogryposis, Radial head subluxation, Hemivertebrae, Hip dislocation ORPHA:672
Duane Retraction Syndrome
Abnormal form of the vertebral bodies, Short neck, Camptodactyly, Spina bifida occulta, Abnormal ... ORPHA:233
Xylt1-Cdg
Joint dislocation, Broad ribs, Joint hypermobility, Short clavicles, Accelerated skeletal maturation ORPHA:370930
Oculocerebrocutaneous Syndrome
Missing ribs, Congenital hip dislocation, Abnormal rib morphology 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
Thin ribs, Joint hypermobility OMIM:300219
Acro-Renal-Ocular Syndrome
Vertebral fusion, Vertebral segmentation defect ORPHA:959
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1
Thin ribs, Progressive congenital scoliosis, Platyspondyly, Osteopenia, Joint dislocation, Congen... OMIM:225400
Waardenburg Syndrome, Type 1
Supernumerary ribs, Sprengel anomaly, Supernumerary vertebrae OMIM:193500
Hyperparathyroidism, Transient Neonatal
Thin ribs, Osteopenia, Narrow chest, Fractured rib, Undulate ribs, Short ribs, Wide cranial sutur... OMIM:618188
Stuve-Wiedemann Syndrome 1
Thin ribs, Talipes valgus, Pathologic fracture, Elbow flexion contracture, Knee flexion contractu... OMIM:601559
Trisomy 1Q
Camptodactyly of finger, Abnormal rib morphology, Short thorax ORPHA:261344
Spondyloepimetaphyseal Dysplasia, X-Linked
Platyspondyly, Pectus carinatum, Hypoplasia of the odontoid process, Posterior rib cupping, Lumba... OMIM:300106
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Thin ribs, Coronal craniosynostosis, Contracture of the distal interphalangeal joint of the finge... ORPHA:83617
Thrombocytopenia-Absent Radius Syndrome
Lateral clavicle hook, Cervical ribs, Abnormal shoulder morphology, Carpal synostosis, Patellar a... OMIM:274000
Myhre Syndrome
Platyspondyly, Joint stiffness, Abnormal rib morphology ORPHA:2588
Osteopathia Striata With Cranial Sclerosis
Thoracolumbar kyphosis, Joint contracture of the hand, Craniofacial osteosclerosis, Tracheomalaci... OMIM:300373
Campomelic Dysplasia
Thin ribs, Delayed epiphyseal ossification, Hypoplastic scapulae, Hypoplastic cervical vertebrae,... OMIM:114290
Alpha-Mannosidosis, Infantile Form
Platyspondyly, Pectus carinatum, Osteopenia, Talipes valgus, Joint stiffness, Genu valgum, Joint ... ORPHA:309282
Apert Syndrome
Cervical C5/C6 vertebrae fusion, Vertebral segmentation defect ORPHA:87
Cerebrocostomandibular Syndrome
Posterior rib gap, Bell-shaped thorax, Kyphosis, Tracheomalacia ORPHA:1393
Mucopolysaccharidosis Type 3
Abnormal clavicle morphology, Abnormal form of the vertebral bodies, Joint stiffness, Genu valgum... ORPHA:581
Hallermann-Streiff Syndrome
Thin ribs, Abnormal rib cage morphology, Decreased number of sternal ossification centers, Trache... OMIM:234100
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Pectus carinatum, Broad clavicles, Elbow flexion contracture, Broad ribs, Carpal bone aplasia, Hu... OMIM:276820
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Narrow chest, Horizontal ribs, Long thorax, Short ribs, Decreased calvarial ossification, Short n... OMIM:617925
Gracile Bone Dysplasia
Thin ribs, Decreased skull ossification OMIM:602361
Short-Rib Thoracic Dysplasia 12
Narrow chest, Hypoplastic scapulae, Thoracic dysplasia, Horizontal ribs, Short ribs, Short neck, ... OMIM:269860
Weill-Marchesani Syndrome 2
Delayed skeletal maturation, Spinal canal stenosis, Elbow flexion contracture, Broad ribs, Lumbar... OMIM:608328
Vater/Vacterl Association
Abnormal vertebral morphology, Abnormal sternum morphology, Radioulnar synostosis, Abnormal rib m... OMIM:192350
Chops Syndrome
Cervical C2/C3 vertebral fusion, Tracheomalacia OMIM:616368
Craniotubular Dysplasia, Ikegawa Type
Platyspondyly, Broad ribs, Sclerosis of skull base, Increased intervertebral space OMIM:619727
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Hypoplastic scapulae, Abnormality of the costochondral junction, Short neck, Anterior rib cupping... ORPHA:96334
Chromosome 16P13.3 Duplication Syndrome
Cervical C5/C6 vertebrae fusion, Short neck, Camptodactyly, Pectus excavatum, Tracheobronchomalac... OMIM:613458
Monosomy 9P
Limitation of joint mobility, Abnormality of the vertebral column, Short neck, Abnormal rib morph... ORPHA:261112
Ulbright-Hodes Syndrome
Thin ribs, Humeroradial synostosis, Short ribs, Short sternum, Short neck, Ovoid thoracolumbar ve... ORPHA:3404
Autosomal Dominant Centronuclear Myopathy
Thin ribs ORPHA:169189
Eiken Syndrome
Delayed epiphyseal ossification, Broad ribs, Delayed tarsal ossification, Flat acetabular roof, D... OMIM:600002
Fetal Akinesia Deformation Sequence 1
Thin ribs, Congenital contracture, Thoracic hypoplasia, Camptodactyly of finger, Elbow contractur... OMIM:208150
Dextrocardia
Congenital hip dislocation, Abnormal rib morphology ORPHA:1666
Schinzel-Giedion Midface Retraction Syndrome
Increased density of long bones, Broad ribs, Sclerosis of skull base, Hypoplasia of first ribs, M... OMIM:269150
Pseudo-Torch Syndrome 2
Thin ribs OMIM:617397
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies
Broad ribs, Genu valgum, Limited elbow extension, Hyperlordosis, Hip dislocation OMIM:301066
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Narrow chest, Thoracic dysplasia, Early ossification of capital femoral epiphyses, Horizontal rib... OMIM:208500
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Shallow acetabular fossae, Popliteal pterygium, Delayed skeletal maturation, Patellar hypoplasia,... OMIM:609945
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Narrow chest, Unicoronal synostosis, Bell-shaped thorax, Horizontal ribs, Short ribs, Flat acetab... OMIM:616300
Heterotaxy, Visceral, 1, X-Linked
Congenital hip dislocation, Block vertebrae, Absence of the sacrum OMIM:306955
Ear-Patella-Short Stature Syndrome
Aplastic clavicle, Elbow dislocation, Delayed skeletal maturation, Camptodactyly of finger, Patel... ORPHA:2554
Oculocerebrorenal Syndrome Of Lowe
Platyspondyly, Patellar dislocation, Kyphosis, Osteomalacia, Joint stiffness, Genu valgum, Recurr... ORPHA:534
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Narrow chest, Horizontal ribs, Aplasia of the epiglottis, Short clavicles, Short ribs OMIM:617088
Alagille Syndrome 1
Butterfly vertebral arch, Hemivertebrae, Abnormal rib morphology OMIM:118450
Mucopolysaccharidosis Type 2, Severe Form
Abnormal vertebral morphology, Limitation of joint mobility, Spinal canal stenosis, Camptodactyly... ORPHA:217085
Mucopolysaccharidosis Type 2, Attenuated Form
Abnormal vertebral morphology, Limitation of joint mobility, Spinal canal stenosis, Camptodactyly... ORPHA:217093
Restrictive Dermopathy
Thin ribs, Osteopenia, Arthrogryposis multiplex congenita, Camptodactyly of finger, Increased ant... ORPHA:1662
Smith-Lemli-Opitz Syndrome
Hip dislocation, Abnormal form of the vertebral bodies, Short neck, Abnormal rib morphology, Scol... ORPHA:818
Craniofacial Microsomia 1
Block vertebrae, Cervical ribs, Genu valgum, Hemivertebrae, Scoliosis, Vertebral hypoplasia OMIM:164210
Cranioectodermal Dysplasia 2
Narrow chest, Horizontal ribs, Short ribs, Joint hypermobility, Short neck, Metopic synostosis, P... OMIM:613610
Autosomal Recessive Malignant Osteopetrosis
Narrow chest, Osteopetrosis, Abnormal rib morphology, Craniosynostosis, Reduced bone mineral dens... ORPHA:667
Hereditary Acrokeratotic Poikiloderma
Joint hypermobility, Camptodactyly of finger, Abnormal rib morphology ORPHA:2907
Schinzel-Giedion Syndrome
Abnormal clavicle morphology, Broad ribs, Sclerosis of skull base, Abnormal thorax morphology, Ky... 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
Abnormal vertebral morphology, Tracheomalacia, Cervical C2/C3 vertebral fusion, Wormian bones, Hi... ORPHA:444077
Fryns Syndrome
Thin ribs, Joint contracture of the hand, Thoracic hypoplasia, Broad ribs, Short neck, Camptodactyly OMIM:229850
Trisomy 18
Camptodactyly of finger, Delayed skeletal maturation, Abnormal rib morphology ORPHA:3380
Osteopetrosis, Autosomal Recessive 7
Multiple rib fractures, Femur fracture, Osteopetrosis OMIM:612301
Coccidioidomycosis
Abnormality of the vertebral column, Broad ribs, Osteomyelitis, Arthritis, Osteolysis ORPHA:228123
Generalized Arterial Calcification Of Infancy
Osteomalacia, Abnormal hip joint morphology, Hypophosphatemic rickets, Abnormal calcification of ... ORPHA:51608
Mandibuloacral Dysplasia Progeroid Syndrome
Thin ribs, Osteopenia, Delayed cranial suture closure, Joint stiffness, Genu valgum, Supernumerar... OMIM:619127
Holt-Oram Syndrome
Narrow chest, Hypoplastic scapulae, Elbow dislocation, 11 pairs of ribs, Limited elbow extension,... OMIM:142900
Charge Syndrome
Scoliosis, Abnormality of bone mineral density, Hemivertebrae, Abnormal rib morphology ORPHA:138
Kindler Epidermolysis Bullosa
Flexion contracture, Camptodactyly of finger, 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
Thin ribs, Narrow chest, Short neck, Delayed closure of the anterior fontanelle, Widely patent fo... OMIM:264090
Townes-Brocks Syndrome
Abnormal vertebral morphology, Abnormal rib morphology ORPHA:857
Charge Syndrome
Down-sloping shoulders, Radial head subluxation, Hemivertebrae, Abnormal rib morphology, Scoliosis OMIM:214800
Osteopetrosis With Renal Tubular Acidosis
Prominent floating ribs, Pectus excavatum, Osteopetrosis, Recurrent fractures 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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