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
Vertebral segmentation defect, Rib fusion, Vertebral clefting, Hemivertebrae, Short neck OMIM:608681
Sacral Agenesis With Vertebral Anomalies
Abnormal vertebral morphology, Absence of the sacrum OMIM:615709
Spondylocostal Dysostosis 3, Autosomal Recessive
Vertebral segmentation defect, Rib fusion, Kyphosis, Contracture of the proximal interphalangeal ... OMIM:609813
Familial Scheuermann Disease
Kyphosis, Abnormal form of the vertebral bodies ORPHA:3135
Chondrocalcinosis Due To Apatite Crystal Deposition
Intervertebral disk calcification, Osteoarthritis of the small joints of the hand, Costal cartila... OMIM:118610
Spondylocostal Dysostosis 4, Autosomal Recessive
Vertebral segmentation defect, Rib fusion, Hemivertebrae, Spina bifida occulta, Abnormal rib morp... OMIM:613686
Cervical Vertebral Dysplasia
Anterior atlanto-occipital dislocation, Cervical vertebral dysplasia, Cervical vertebral facet hy... OMIM:118005
Vertebral Fusion, Posterior Lumbosacral, With Blepharoptosis
Posterior fusion of lumbosacral vertebrae OMIM:192800
Spondylocostal Dysostosis 5
Butterfly vertebrae, Hemivertebrae, Short neck, Posterior rib fusion, Scoliosis, Pectus carinatum... OMIM:122600
Spondylocostal Dysostosis 1, Autosomal Recessive
Vertebral segmentation defect, Rib fusion, Kyphoscoliosis, Back pain, Hemivertebrae, Short neck, ... OMIM:277300
Scheuermann Disease
Kyphosis, Osteochondrosis, Morbus Scheuermann OMIM:181440
Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome
Posterior fusion of lumbosacral vertebrae, Joint stiffness, Abnormal form of the vertebral bodies... ORPHA:2064
Dwarfism With Tall Vertebrae
Increased vertebral height OMIM:126950
Microcephaly With Cervical Spine Fusion Anomalies
Vertebral fusion, Spinal instability OMIM:251250
Autosomal Dominant Spondylocostal Dysostosis
Vertebral segmentation defect, Short neck, Posterior rib fusion, Scoliosis, Spina bifida occulta,... ORPHA:1797
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Scoliosis, Pectus carinatum, Radioulnar synostosis, Abnormal rib morphology, Abnormality of the e... ORPHA:3268
Poland Syndrome
Sprengel anomaly, Rib fusion, Hemivertebrae, Short ribs OMIM:173800
Klippel-Feil Syndrome 3, Autosomal Dominant
Cervical C5/C6 vertebrae fusion, Cervical C3/C4 vertebral fusion, Thoracic scoliosis OMIM:613702
Sprengel Deformity
Sprengel anomaly, Hemivertebrae, Scoliosis, Spina bifida occulta, Cervical segmentation defect, R... OMIM:184400
Diaphanospondylodysostosis
Enlarged thorax, Abnormal vertebral segmentation and fusion, Short neck, Absent or minimally ossi... ORPHA:66637
Brachyolmia, Maroteaux Type
Pectus excavatum, Platyspondyly, Scoliosis, Abnormal form of the vertebral bodies, Short thorax ORPHA:93302
Spondylocostal Dysostosis 6, Autosomal Recessive
Spinal canal stenosis, Butterfly vertebrae, Hemivertebrae, Scoliosis, Cervical kyphosis OMIM:616566
Dextrocardia With Unusual Facies And Microphthalmia
Vertebral segmentation defect, Supernumerary ribs, Vertebral fusion OMIM:221950
Ankylosing Vertebral Hyperostosis With Tylosis
Vertebral hyperostosis OMIM:106400
Neurogenic Thoracic Outlet Syndrome
Abnormal rib morphology ORPHA:100073
Becker Nevus Syndrome
Kyphosis, Rib fusion, Pectus excavatum, Scoliosis, Pectus carinatum, Spina bifida occulta, Supern... ORPHA:64755
Primary Basilar Invagination
Abnormal vertebral morphology, Short neck, Abnormality of the cervical spine ORPHA:2285
Endosteal Hyperostosis, Worth Type
Clavicular sclerosis, Abnormal form of the vertebral bodies, Abnormal rib morphology, Sclerotic v... ORPHA:2790
Spondylometaphyseal Dysplasia, Corner Fracture Type
Scoliosis, Genu varum, Pectus carinatum, Hyperconvex vertebral body endplates, Ovoid vertebral bo... OMIM:184255
Autosomal Dominant Brachyolmia
Increased vertebral height, Kyphoscoliosis, Platyspondyly, Short thorax ORPHA:93304
Spondylometaphyseal Dysplasia, A4 Type
Platyspondyly, Flared, irregular rib ends, Limitation of joint mobility ORPHA:168555
Kyphomelic Dysplasia
Narrow chest, Joint stiffness, Undulate ribs, Anterior rib cupping, Abnormal form of the vertebra... ORPHA:1801
Heart Defects-Limb Shortening Syndrome
Narrow chest, Kyphosis, Accelerated skeletal maturation, Abnormal form of the vertebral bodies, A... ORPHA:1354
Multiple Synostoses Syndrome 2
Carpal synostosis, Finger symphalangism, Proximal symphalangism, Tarsal synostosis, Humeroradial ... OMIM:610017
Spondylometaphyseal Dysplasia, East African Type
Ovoid vertebral bodies, Genu varum, Bell-shaped thorax OMIM:611702
Isolated Klippel-Feil Syndrome
Sprengel anomaly, Cervical C2/C3 vertebral fusion, Abnormal vertebral segmentation and fusion, Sh... ORPHA:2345
Osteoarthritis With Mild Chondrodysplasia
Irregular vertebral endplates, Beaking of vertebral bodies, Joint stiffness, Platyspondyly, Hip o... OMIM:604864
Osteomesopyknosis
Kyphosis, Increased bone mineral density, Scoliosis, Abnormal form of the vertebral bodies, Scler... ORPHA:2777
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Abnormality of the cervical spine, Superior rib anomalies OMIM:307500
Vertebral Hypoplasia With Lumbar Kyphosis
Vertebral hypoplasia, Lumbar kyphosis OMIM:192900
Thoracomelic Dysplasia
Short ribs, Bell-shaped thorax OMIM:273740
Spondyloepiphyseal Dysplasia Tarda, Kohn Type
Restricted large joint movement, Platyspondyly, Abnormality of the ankles, Abnormal vertebral mor... ORPHA:163665
Thoracic Dysostosis, Isolated
Pectus excavatum, Bell-shaped thorax, Short ribs OMIM:187750
Osteogenesis Imperfecta, Type Ix
Kyphosis, Recurrent fractures, Pectus excavatum, Decreased calvarial ossification, Platyspondyly,... OMIM:259440
Acromesomelic Dysplasia, Maroteaux Type
Sprengel anomaly, Kyphosis, Beaking of vertebral bodies, Joint stiffness, Scoliosis, Abnormal for... ORPHA:40
Second Metatarsal-Metacarpal Syndrome
Platyspondyly, Synostosis of carpals/tarsals OMIM:269630
Becker Nevus Syndrome
Hemivertebrae, Cervical ribs, Pectus excavatum, Scoliosis OMIM:604919
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Vertebral segmentation defect, Vertebral fusion, Short thorax, Sacral dimple OMIM:618845
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type
Irregular vertebral endplates, Decreased hip abduction, Lumbar hyperlordosis, Platyspondyly, Scol... OMIM:609223
Galactosialidosis
Abnormal vertebral morphology, Abnormality of the vertebral column ORPHA:351
Klippel-Feil Syndrome 2, Autosomal Recessive
Sprengel anomaly, Cervical C2/C3 vertebral fusion, Short neck, Scoliosis, Fused cervical vertebrae OMIM:214300
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B
Flexion contracture, Fused thoracic vertebrae, Short neck, Scoliosis, Fused cervical vertebrae, T... OMIM:618469
Autosomal Recessive Spondylocostal Dysostosis
Vertebral segmentation defect, Rib fusion, Kyphosis, Camptodactyly of finger, Short neck, Scolios... ORPHA:2311
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome
Abnormal sacrum morphology, Fused cervical vertebrae, Thoracic hemivertebrae, Scoliosis ORPHA:1436
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A
Carpal synostosis, Hip contracture, Multiple pterygia, Spondylolisthesis, Craniosynostosis, Hemiv... OMIM:178110
Acrodysplasia Scoliosis
Vertebral segmentation defect, Scoliosis, Spina bifida occulta ORPHA:2956
Mesomelic Dysplasia, Kantaputra Type
Vertebral segmentation defect, Camptodactyly of finger, Synostosis of carpal bones, Abnormality o... ORPHA:1836
Osteogenesis Imperfecta, Type Xv
Recurrent fractures, Thin ribs, Platyspondyly, Scoliosis, Joint hypermobility, Bowing of limbs du... OMIM:615220
Femoral-Facial Syndrome
Sprengel anomaly, Rib fusion, Vertebral segmentation defect, Scoliosis, Radioulnar synostosis, Ab... ORPHA:1988
Metatropic Dysplasia
Narrow chest, Kyphosis, Joint stiffness, Camptodactyly of finger, Scoliosis, Abnormal form of the... ORPHA:2635
Vater-Like Defects With Pulmonary Hypertension, Laryngeal Webs, And Growth Deficiency
Hemivertebrae, Pectus excavatum, Posterior rib fusion, Abnormal rib cage morphology OMIM:608406
Thoracolaryngopelvic Dysplasia
Irregular vertebral endplates, Irregular chondrocostal junctions, Short ribs, Scoliosis, Bell-sha... OMIM:187760
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Rib fusion, Thin ribs, Short ribs, Supernumerary vertebrae, Hemivertebrae, Short neck, Scoliosis,... OMIM:271520
Spondylocamptodactyly Syndrome
Platyspondyly, Scoliosis ORPHA:3180
Kuskokwim Syndrome
Joint stiffness, Abnormal clavicle morphology, Aplasia/Hypoplasia of the patella, Scoliosis, Abno... ORPHA:1149
Osteogenesis Imperfecta, Type Xix
Recurrent fractures, Pectus excavatum, Osteopenia, Scoliosis, Biconcave vertebral bodies, Pectus ... OMIM:301014
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods
Cervical vertebral bodies with decreased anteroposterior diameter, Fusion of midcervical facet jo... OMIM:606842
Mental Retardation, Skeletal Dysplasia, And Abducens Palsy
Thoracic hemivertebrae, Fused cervical vertebrae, Prominent metopic ridge, Scoliosis OMIM:309620
Spondyloepiphyseal Dysplasia Tarda With Mental Retardation
Anterior beaking of lumbar vertebrae, Platyspondyly OMIM:271620
Brachyolmia Type 2
Platyspondyly OMIM:613678
Spondylosis, Cervical
Spondylolysis, Cervical spondylosis, Spondylolisthesis, Spina bifida occulta OMIM:184300
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome
Abnormal rib morphology ORPHA:2435
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2
Abnormal rib morphology, Short neck, Vertebral segmentation defect ORPHA:2578
Acropectorovertebral Dysplasia
Spina bifida occulta at L5, Spina bifida occulta at S1, Synostosis of carpal bones, Abnormal thor... OMIM:102510
Spondylometaphyseal Dysplasia, Type A4
Platyspondyly, Pectus carinatum, Enlargement of the costochondral junction, Irregular patellae, O... OMIM:609052
Wildervanck Syndrome
Fused cervical vertebrae OMIM:314600
Spondyloepiphyseal Dysplasia, Maroteaux Type
Platyspondyly OMIM:184095
Klippel-Feil Syndrome 1, Autosomal Dominant
Sprengel anomaly, Cervical C2/C3 vertebral fusion, Abnormal vertebral segmentation and fusion, Sh... OMIM:118100
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Kyphosis, Abnormal clavicle morphology, Pectus excavatum, Short neck, Hyperlordosis, Abnormal rib... ORPHA:2522
Myotonia With Skeletal Abnormalities And Mental Retardation
Kyphoscoliosis, Pectus carinatum, Bell-shaped thorax, Genu valgum, Vertebral wedging OMIM:255710
Cerebrofaciothoracic Dysplasia
Sprengel anomaly, Rib fusion, Bifid ribs, Narrow chest, Vertebral segmentation defect, Hemiverteb... ORPHA:1394
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3
Irregular vertebral endplates, Dislocated radial head, Knee dislocation, Thin ribs, Short neck, P... OMIM:618395
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome
Abnormality of the humeroulnar joint, Hemivertebrae, Short neck, Abnormal form of the vertebral b... ORPHA:2234
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 2
Thoracic scoliosis, Pectus excavatum, Shield chest, Short neck OMIM:616994
Osteogenesis Imperfecta, Type Vi
Beaking of vertebral bodies, Biconcave vertebral bodies, Protrusio acetabuli, Joint laxity, Verte... OMIM:613982
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly
Narrow chest, Acetabular spurs, Short ribs, Trident acetabulum, Horizontal ribs, Lateral clavicle... OMIM:617405
Spondyloepimetaphyseal Dysplasia, Irapa Type
Lumbar hyperlordosis, Hypoplastic sacrum, Osteoarthritis, Platyspondyly, Pectus carinatum, Enlarg... OMIM:271650
Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant
Irregular vertebral endplates, Kyphoscoliosis, Lumbar hyperlordosis, Barrel-shaped chest, Platysp... OMIM:184100
Pontine Tegmental Cap Dysplasia
Rib fusion, Hemivertebrae, Ankle clonus, Scoliosis OMIM:614688
Metatropic Dysplasia
Enlarged joints, Platyspondyly, Anisospondyly, Genu valgum, Abnormal enchondral ossification, Del... OMIM:156530
Multiple Pterygium Syndrome, X-Linked
Multiple pterygia, Joint dislocation, Flexion contracture, Thin ribs, Abnormal cervical curvature... OMIM:312150
Asymmetric Short Stature Syndrome
Lumbar scoliosis, Fused cervical vertebrae OMIM:108450
Bruck Syndrome 1
Kyphosis, Hip contracture, Platyspondyly, Scoliosis, Osteoporosis, Pectus carinatum, Protrusio ac... OMIM:259450
Spondylometaphyseal Dysplasia, Axial
Narrow chest, Platyspondyly, Anterior rib cupping, Scoliosis, Thoracic hypoplasia OMIM:602271
Developmental And Speech Delay Due To Sox5 Deficiency
Lumbar hyperlordosis, Butterfly vertebrae, Scoliosis, Pectus carinatum, Thoracic kyphoscoliosis, ... ORPHA:313892
Spondyloepimetaphyseal Dysplasia, Irapa Type
Osteoarthritis, Platyspondyly, Synostosis of carpal bones, Osteoporosis, Pectus carinatum, Abnorm... ORPHA:93351
Multiple Pterygium Syndrome, Lethal Type
Multiple pterygia, Joint dislocation, Flexion contracture, Thin ribs, Abnormal cervical curvature... OMIM:253290
Spinal Dysplasia, Anhalt Type
Osteoarthritis of the small joints of the hand, Spinal dysplasia, Thoracolumbar scoliosis, Absent... OMIM:601344
Familial Congenital Mirror Movements
Fused cervical vertebrae ORPHA:238722
Lethal Congenital Contracture Syndrome Type 1
Recurrent fractures, Short neck, Abnormal form of the vertebral bodies, Abnormal rib morphology, ... ORPHA:1486
Brachydactyly, Type B1
Joint contracture of the hand, Hypoplastic sacrum, Hemivertebrae, Delayed cranial suture closure,... OMIM:113000
Multiple Pterygium Syndrome, Escobar Variant
Multiple joint contractures, Short neck, Down-sloping shoulders, Pterygium, Rib fusion, Anterior ... OMIM:265000
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Narrow chest, Thin ribs, Short ribs, Disc-like vertebral bodies, Decreased cranial base ossificat... OMIM:151210
Keratoconus Posticus Circumscriptus
Abnormal vertebral segmentation and fusion, Short neck, Limited elbow extension and supination OMIM:244600
Ring Chromosome 21 Syndrome
Thoracic hemivertebrae, Scoliosis, Fused thoracic vertebrae, Abnormal thorax morphology ORPHA:1445
White Forelock With Malformations
Sprengel anomaly, Spina bifida occulta, Abnormal rib morphology, Delayed skeletal maturation, Joi... ORPHA:2475
Kbg Syndrome
Delayed skeletal maturation, Short neck, Scoliosis, Thoracic kyphosis, Cervical ribs, Persistent ... ORPHA:2332
Verheij Syndrome
Hemivertebrae, Short neck, Scoliosis, Hip dislocation, Vertebral fusion OMIM:615583
Laryngotracheoesophageal Cleft Type 4
Abnormal rib morphology, Abnormal form of the vertebral bodies ORPHA:93941
Isolated Hemihyperplasia
Scoliosis, Asymmetry of the thorax ORPHA:2128
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Irregular vertebral endplates, Beaking of vertebral bodies, Lumbar hyperlordosis, Delayed ossific... OMIM:609616
Thanatophoric Dysplasia, Type Ii
Narrow chest, Wide-cupped costochondral junctions, Small abnormally formed scapulae, Short ribs, ... OMIM:187601
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Narrow chest, Abnormal clavicle morphology, Platyspondyly, Short neck, Abnormal rib morphology, D... ORPHA:93267
Polydactyly, Postaxial, With Dental And Vertebral Anomalies
Narrow chest, Spinal canal stenosis, Kyphoscoliosis, Pectus excavatum, Hypoplastic vertebral bodi... OMIM:263540
Kniest Dysplasia
Enlarged joints, Joint stiffness, Laryngotracheomalacia, Flexion contracture of finger, Anterior ... ORPHA:485
Wildervanck Syndrome
Fused cervical vertebrae, Short neck ORPHA:3456
Mayer-Rokitansky-Küster-Hauser Syndrome
Vertebral segmentation defect, Vertebral fusion, Abnormal sacrum morphology, Abnormal form of the... ORPHA:3109
Spondyloepimetaphyseal Dysplasia, Strudwick Type
Platyspondyly, Scoliosis, Anterior rib cupping, Pectus carinatum, C1-C2 subluxation, Hyperlordosi... OMIM:184250
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Kyphosis, Scoliosis, Hyperlordosis, Vertebral fusion, Achilles tendon contracture OMIM:606612
Axial Spondylometaphyseal Dysplasia
Narrow chest, Thoracic scoliosis, Delayed ossification of carpal bones, Short ribs, Osteopenia, P... ORPHA:168549
Ophthalmoplegia, External, With Rib And Vertebral Anomalies
Pectus excavatum, Scoliosis, Missing ribs, Short ribs OMIM:618155
Proximal 16P11.2 Microdeletion Syndrome
Abnormal vertebral morphology, Rib fusion, Scoliosis, Craniosynostosis ORPHA:261197
Juberg-Hayward Syndrome
Scoliosis, Radioulnar synostosis, Abnormal rib morphology, Abnormal vertebral morphology, Abnorma... ORPHA:2319
Autosomal Recessive Multiple Pterygium Syndrome
Vertebral segmentation defect, Rib fusion, Pectus excavatum, Abnormal sternum morphology, Multipl... ORPHA:2990
Septopreoptic Holoprosencephaly
Abnormal rib morphology, Abnormal vertebral morphology ORPHA:280195
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies
Abnormal rib morphology, Hypoplastic distal segments of scapulae, Pectus excavatum, Joint hypermo... OMIM:602196
Osteogenesis Imperfecta, Type Ii
Recurrent fractures, Thin ribs, Platyspondyly, Wormian bones, Bell-shaped thorax, Thoracic hypopl... OMIM:166210
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
Platyspondyly, Short neck, Biconcave vertebral bodies, Pectus carinatum, Genu valgum, Interverteb... ORPHA:93315
Spondylometaphyseal Dysplasia, Kozlowski Type
Enlarged joints, Delayed skeletal maturation, Kyphoscoliosis, Delayed ossification of carpal bone... OMIM:184252
Microphthalmia, Syndromic 3
Rib fusion, Butterfly vertebrae, Hemivertebrae, Vertebral hypoplasia, Missing ribs, Supernumerary... OMIM:206900
Spondyloepiphyseal Dysplasia Tarda, X-Linked
Hump-shaped mound of bone in central and posterior portions of vertebral endplate, Kyphosis, Lumb... OMIM:313400
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Sprengel anomaly, Hemivertebrae, Scoliosis, Abnormal form of the vertebral bodies, Abnormal rib m... ORPHA:2180
Osteogenesis Imperfecta, Type Xviii
Recurrent fractures, Thin ribs, Biconcave vertebral bodies, Wormian bones, Joint laxity, Vertebra... OMIM:617952
Mucolipidosis Iii Gamma
Kyphosis, Joint stiffness, Abnormal rib cage morphology, Short neck, Scoliosis, Pectus carinatum,... OMIM:252605
Osteogenesis Imperfecta, Type Xxi
Recurrent fractures, Pectus excavatum, Barrel-shaped chest, Platyspondyly, Scoliosis, Osteoporosi... OMIM:619131
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome
Kyphosis, Hypoplastic vertebral bodies, Hemivertebrae, Scoliosis, Abnormal form of the vertebral ... ORPHA:2916
Rhizomelic Dysplasia, Scoliosis, And Retinitis Pigmentosa
Short clavicles, Short ribs, Short neck, Scoliosis, Biconcave vertebral bodies, Broad ribs OMIM:610319
Diastrophic Dysplasia
Kyphosis, Joint stiffness, Abnormal clavicle morphology, Joint dislocation, Increased bone minera... ORPHA:628
Mosaic Trisomy 14
Narrow chest, Camptodactyly of finger, Short neck, Abnormal rib morphology ORPHA:1703
Endosteal Hyperostosis, Autosomal Dominant
Metacarpal diaphyseal endosteal sclerosis, Metatarsal diaphyseal endosteal sclerosis, Sclerotic v... OMIM:144750
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Hemivertebrae, Abnormal form of the vertebral bodies, Abnormal rib morphology, Missing ribs, Join... ORPHA:2759
Mucopolysaccharidosis Type 4
Spinal canal stenosis, Kyphosis, Joint dislocation, Reduced bone mineral density, Platyspondyly, ... ORPHA:582
Mucopolysaccharidosis, Type X
Beaking of vertebral bodies, Platyspondyly, Scoliosis, Broad clavicles, Hyperlordosis, Irregular ... OMIM:619698
Idiopathic Juvenile Osteoporosis
Recurrent fractures, Kyphosis, Osteoporosis, Vertebral compression fracture, Bone pain ORPHA:85193
Osteogenesis Imperfecta, Type Iii
Kyphosis, Recurrent fractures, Thin ribs, Decreased calvarial ossification, Biconcave vertebral b... OMIM:259420
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type
Pectus excavatum, Lumbar hyperlordosis, Platyspondyly, Limited elbow extension, Ovoid vertebral b... OMIM:608728
Kbg Syndrome
Delayed skeletal maturation, Rib fusion, Short neck, Vertebral arch anomaly, Thoracic kyphosis, C... OMIM:148050
Achondrogenesis Type 1B
Narrow chest, Short neck, Abnormal rib morphology, Short thorax, Abnormal enchondral ossification ORPHA:93298
Osteogenesis Imperfecta, Type Xvi
Narrow chest, Recurrent fractures, Multiple rib fractures, Osteopenia, Decreased calvarial ossifi... OMIM:616229
Spondyloepimetaphyseal Dysplasia, Missouri Type
Osteoarthritis, Platyspondyly, Irregular sclerotic endplates, Pear-shaped vertebrae, Genu varum, ... OMIM:602111
Lateral Meningocele Syndrome
Kyphosis, Sclerosis of skull base, Pectus excavatum, Abnormal rib cage morphology, Short neck, Bi... OMIM:130720
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis
Joint swelling, Osteomyelitis, Osteopenia, Fused cervical vertebrae, Osteolysis, Flaring of rib c... OMIM:612852
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Sprengel anomaly, Abnormality of the vertebral column, Abnormal rib morphology OMIM:601076
Craniodiaphyseal Dysplasia
Abnormal rib morphology ORPHA:1513
Holt-Oram Syndrome
Sprengel anomaly, Kyphosis, Joint stiffness, Abnormal clavicle morphology, Pectus excavatum, Down... ORPHA:392
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
Sprengel anomaly, Rib fusion, Bifid ribs, Pectus excavatum, Narrow chest, Beaking of vertebral bo... OMIM:213980
Spondyloepimetaphyseal Dysplasia, Shohat Type
Delayed epiphyseal ossification, Lumbar hyperlordosis, Narrow vertebral interpedicular distance, ... OMIM:602557
Gorlin Syndrome
Hemivertebrae, Vertebral wedging, Scoliosis, Vertebral fusion ORPHA:377
Mucopolysaccharidosis, Type Iva
Kyphosis, Large elbow, Prominent sternum, Anterior beaking of lumbar vertebrae, Short neck, Platy... OMIM:253000
Grant Syndrome
Sprengel anomaly, Narrow chest, Joint dislocation, Abnormality of the glenoid fossa, Joint hyperf... ORPHA:2097
Cerebral-Cerebellar-Coloboma Syndrome, X-Linked
Abnormal rib morphology OMIM:300864
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Joint stiffness, Platyspondyly, Scoliosis, Severe platyspondyly, Ovoid vertebral bodies, Cupped ribs OMIM:608940
Aicardi Syndrome
Bifid ribs, Rib fusion, Butterfly vertebrae, Scoliosis, Missing ribs, Block vertebrae, Supernumer... ORPHA:50
Fibrochondrogenesis
Narrow chest, Short ribs, Camptodactyly of finger, Short neck, Abnormal form of the vertebral bod... ORPHA:2021
Alkaptonuria
Kyphosis, Intervertebral disc degeneration, Limitation of knee mobility, Arthritis, Low back pain... OMIM:203500
Dyggve-Melchior-Clausen Disease
Beaking of vertebral bodies, Hypoplastic acetabulae, Horizontal inferior border of scapula, Atlan... ORPHA:239
Infantile-Onset X-Linked Spinal Muscular Atrophy
Hip contracture, Kyphoscoliosis, Short ribs, Elbow flexion contracture, Arthrogryposis multiplex ... ORPHA:1145
Cog1-Cdg
Posterior rib gap, Rib fusion, Kyphoscoliosis, Vertebral segmentation defect, Butterfly vertebrae... ORPHA:263508
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Platyspondyly, 11 pairs of ribs, Decreased skull ossification, Thin ribs OMIM:300863
Schneckenbecken Dysplasia
Narrow chest, Advanced ossification of carpal bones, Narrow vertebral interpedicular distance, Sh... OMIM:269250
Cole-Carpenter Syndrome
Kyphosis, Recurrent fractures, Scoliosis, Abnormal form of the vertebral bodies, Wormian bones, A... ORPHA:2050
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Kyphosis, Scoliosis, Hyperlordosis, Vertebral fusion, Achilles tendon contracture OMIM:607155
Achondrogenesis, Type Ii
Barrel-shaped chest, Absent vertebral body mineralization, Horizontal ribs, Short ribs OMIM:200610
Otopalatodigital Syndrome Type 1
Increased bone mineral density, Abnormal vertebral segmentation and fusion, Synostosis of carpal ... ORPHA:90650
Caudal Regression Syndrome
Joint stiffness, Hypoplastic vertebral bodies, Abnormal vertebral segmentation and fusion, Scolio... ORPHA:3027
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia
Anterior vertebral fusion, Long clavicles, Shoulder dislocation, Genu varum, Radioulnar synostosi... OMIM:171480
Short Stature And Facioauriculothoracic Malformations
Pectus excavatum, Short neck, Pectus carinatum, Cervical ribs, Abnormality of the odontoid process OMIM:609654
Aicardi Syndrome
Bifid ribs, Rib fusion, Butterfly vertebrae, Hemivertebrae, Scoliosis, Missing ribs, Block verteb... OMIM:304050
Aarskog-Scott Syndrome
Pectus excavatum, Genu recurvatum, Abnormal vertebral segmentation and fusion, Camptodactyly of f... ORPHA:915
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Narrow chest, Bell-shaped thorax, Horizontal ribs, Thoracic dysplasia, Lateral clavicle hook OMIM:615633
Phaver Syndrome
Joint stiffness, Butterfly vertebrae, Camptodactyly of finger, Abnormal form of the vertebral bod... ORPHA:2876
Spondylocarpotarsal Synostosis Syndrome
Vertebral segmentation defect, Delayed skeletal maturation, Carpal synostosis, C2-C3 subluxation,... OMIM:272460
Achondrogenesis Type 1A
Narrow chest, Recurrent fractures, Multiple rib fractures, Short neck, Short thorax, Abnormal enc... ORPHA:93299
Pseudoachondroplasia
Limited hip extension, Kyphosis, Beaking of vertebral bodies, Lumbar hyperlordosis, Irregular car... OMIM:177170
Mucopolysaccharidosis, Type Iiia
Thickened ribs, Joint stiffness, Ovoid thoracolumbar vertebrae, Scoliosis, Dense calvaria OMIM:252900
Frontometaphyseal Dysplasia 1
Cervical C2/C3 vertebral fusion, Carpal synostosis, Dislocated radial head, Ankle flexion contrac... OMIM:305620
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism
Cervical C2/C3 vertebral fusion, Flexion contracture, Short neck, Thoracolumbar scoliosis, Acetab... OMIM:616549
Cooper-Jabs Syndrome
Reduced bone mineral density, Camptodactyly of finger, Scoliosis, Abnormal rib morphology, Missin... ORPHA:1488
Lamb-Shaffer Syndrome
Fused cervical vertebrae, Thoracic kyphosis, Scoliosis ORPHA:530983
Femoral-Facial Syndrome
Sprengel anomaly, Rib fusion, Dysplastic sacrum, Hemivertebrae, Scoliosis, Limited elbow movement... OMIM:134780
Mucopolysaccharidosis, Type Ivb
Kyphosis, Prominent sternum, Platyspondyly, Scoliosis, Osteoporosis, Ulnar deviation of the wrist... OMIM:253010
Fibrodysplasia Ossificans Progressiva
Ectopic ossification in tendon tissue, Scoliosis, Ectopic ossification in muscle tissue, Ectopic ... OMIM:135100
Basal Cell Nevus Syndrome
Sprengel anomaly, Bifid ribs, Kyphoscoliosis, Abnormal sternum morphology, Irregular ossification... OMIM:109400
Congenital Disorder Of Glycosylation, Type Iig
Vertebral segmentation defect, Butterfly vertebrae, Osteopenia, Short neck, Scoliosis, Camptodact... OMIM:611209
Robinow Syndrome, Autosomal Recessive 1
Delayed skeletal maturation, Rib fusion, Dislocated radial head, Pectus excavatum, Hypoplastic sa... OMIM:268310
Congenital Pseudoarthrosis Of The Clavicle
Congenital pseudoarthrosis of the clavicle, Cervical ribs ORPHA:66630
Hyperparathyroidism, Transient Neonatal
Narrow chest, Osteopenia, Thin ribs, Short ribs OMIM:618188
Melnick-Needles Syndrome
Narrow chest, Short clavicles, Delayed cranial suture closure, Scoliosis, Abnormal rib morphology... ORPHA:2484
Mosaic Trisomy 20
Narrow chest, Spinal canal stenosis, Vertebral segmentation defect, Kyphosis, Limited pronation/s... ORPHA:1724
Osteogenesis Imperfecta, Type X
Narrow chest, Thin ribs, Generalized joint laxity, Osteopenia, Platyspondyly, Scoliosis, Genu val... OMIM:613848
Mucopolysaccharidosis, Type Iiib
Thickened ribs, Joint stiffness, Ovoid thoracolumbar vertebrae, Dense calvaria OMIM:252920
3M Syndrome
Kyphosis, Enlarged thorax, Increased vertebral height, Thin ribs, Short neck, Scoliosis, Congenit... ORPHA:2616
Cole-Carpenter Syndrome 2
Kyphosis, Pectus excavatum, Thin ribs, Coronal craniosynostosis, Osteopenia, Platyspondyly, Wormi... OMIM:616294
Stapes Ankylosis With Broad Thumbs And Toes
Fused cervical vertebrae, Proximal/middle symphalangism of 5th finger OMIM:184460
Achondrogenesis, Type Ia
Narrow chest, Short clavicles, Short ribs, Hypoplastic sacrum, Barrel-shaped chest, Short neck, B... OMIM:200600
Dyggve-Melchior-Clausen Disease
Prominent sternum, Barrel-shaped chest, Short neck, Platyspondyly, Pectus carinatum, Genu valgum,... OMIM:223800
Mucopolysaccharidosis Type 6
Kyphosis, Joint stiffness, Short neck, Genu valgum, Broad ribs, Ovoid vertebral bodies ORPHA:583
Baller-Gerold Syndrome
Rib fusion, Carpal synostosis, Coronal craniosynostosis, Carpal bone aplasia, Scoliosis, Spina bi... OMIM:218600
Mucopolysaccharidosis, Type Iiic
Thickened ribs, Beaking of vertebral bodies, Kyphoscoliosis, Joint stiffness, Ovoid thoracolumbar... OMIM:252930
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy
Delayed skeletal maturation, Prominent sternum, Thin ribs, Flexion contracture, Short neck, Anter... OMIM:300232
Arthrogryposis, Distal, Type 3
Kyphoscoliosis, Lumbar hyperlordosis, Pectus excavatum, Abnormal rib cage morphology, Decreased h... OMIM:114300
Craniodiaphyseal Dysplasia, Autosomal Dominant
Thickened ribs, Cortical sclerosis, Diaphyseal sclerosis, Craniofacial osteosclerosis OMIM:122860
Jeune Syndrome
Narrow chest, Abnormal sternum morphology, Abnormal clavicle morphology, Abnormal rib morphology,... ORPHA:474
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Abnormal rib morphology, Abnormally ossified vertebrae ORPHA:3035
Osteogenesis Imperfecta, Type Viii
Kyphosis, Recurrent fractures, Thin ribs, Osteopenia, Barrel-shaped chest, Platyspondyly, Scolios... OMIM:610915
Metaphyseal Chondrodysplasia, Schmid Type
Irregular vertebral endplates, Lumbar hyperlordosis, Platyspondyly, Anterior rib cupping, Genu va... ORPHA:174
Ehlers-Danlos Syndrome, Classic-Like, 2
Cervical C2/C3 vertebral fusion, Thoracic scoliosis, Knee dislocation, Generalized joint laxity, ... OMIM:618000
Cervical Ribs, Sprengel Anomaly, Anal Atresia, And Urethral Obstruction
Sprengel anomaly, Thoracolumbar scoliosis, Cervical ribs OMIM:601389
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Sprengel anomaly, Pectus excavatum, Butterfly vertebrae, Spina bifida occulta, Fused cervical ver... OMIM:619227
Wolf-Hirschhorn Syndrome
Rib fusion, Kyphosis, Abnormality of the vertebral column, Scoliosis, Abnormal form of the verteb... ORPHA:280
Autosomal Recessive Robinow Syndrome
Vertebral segmentation defect, Rib fusion, Kyphosis, Pectus excavatum, Camptodactyly of finger, S... ORPHA:1507
Holzgreve Syndrome
Abnormal rib morphology, Joint stiffness, Abnormally ossified vertebrae ORPHA:2167
Vertebral Hypersegmentation And Orofacial Anomalies
Pectus excavatum, Six lumbar vertebrae, Joint hypermobility, Supernumerary ribs, Scapular winging OMIM:619122
10Q22.3Q23.3 Microduplication Syndrome
Abnormal rib morphology, Abnormal clavicle morphology ORPHA:276422
Dysosteosclerosis
Narrow chest, Irregular vertebral endplates, Sclerosis of skull base, Hypoplastic vertebral bodie... OMIM:224300
Brachytelephalangic Chondrodysplasia Punctata
Spinal canal stenosis, Calcaneal epiphyseal stippling, Butterfly vertebrae, Abnormal ossification... ORPHA:79345
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome
Pectus carinatum, Hyperlordosis, Abnormal rib morphology, Delayed skeletal maturation, Limitation... ORPHA:3068
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome
Rib fusion, Sacral dimple ORPHA:544488
Prune Belly Syndrome
Vertebral segmentation defect, Pectus excavatum, Congenital hip dislocation, Scoliosis, Abnormal ... ORPHA:2970
Thoracic Outlet Syndrome
Abnormal rib morphology ORPHA:97330
Mucolipidosis Iii Alpha/Beta
Irregular carpal bones, Craniosynostosis, Short ribs, Shallow acetabular fossae, Scoliosis, Carpa... OMIM:252600
Thin Ribs-Tubular Bones-Dysmorphism Syndrome
Abnormal rib morphology ORPHA:1506
Thrombocytopenia-Absent Radius Syndrome
Aplasia/Hypoplasia of the patella, Scoliosis, Genu varum, Fused cervical vertebrae, Cervical ribs... ORPHA:3320
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome
Abnormal rib morphology, Kyphosis, Short neck, Pectus carinatum ORPHA:3082
Cortical Defects, Wormian Bones, And Dentinogenesis Imperfecta
Asymmetry of the thorax, Thin ribs, Wormian bones, Limited elbow extension, Delayed closure of th... OMIM:604922
Spondyloepimetaphyseal Dysplasia, Shohat Type
Squared-off platyspondyly, Delayed epiphyseal ossification, Narrow vertebral interpedicular dista... ORPHA:93352
Acrocapitofemoral Dysplasia
Narrow chest, Pectus excavatum, Lumbar hyperlordosis, Delayed ossification of carpal bones, Short... OMIM:607778
Three M Syndrome 2
Lumbar hyperlordosis, Thin ribs, Short neck, Pectus carinatum, Hyperlordosis, Short thorax, Scapu... OMIM:612921
Cardiospondylocarpofacial Syndrome
Rib fusion, Carpal synostosis, Scoliosis, Fused cervical vertebrae, Joint laxity, Tarsal synostos... OMIM:157800
Lethal Kniest-Like Dysplasia
Narrow chest, Hypoplastic vertebral bodies, Short ribs, Platyspondyly, Short neck, Anterior rib c... ORPHA:2347
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Abnormal rib morphology, Recurrent fractures, Decreased calvarial ossification, Joint hyperflexib... ORPHA:2772
Axial Mesodermal Dysplasia Spectrum
Vertebral segmentation defect, Short neck, Scoliosis, Abnormal form of the vertebral bodies, Abno... ORPHA:1834
Koolen-De Vries Syndrome
Vertebral segmentation defect, Kyphosis, Pectus excavatum, Scoliosis, Hip dislocation, Vertebral ... ORPHA:96169
Fibrochondrogenesis 1
Widely patent coronal suture, Widely patent sagittal suture, Joint contracture of the hand, Thin ... OMIM:228520
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Increased bone mineral density, Osteopenia, Wormian bones, Vertebral arch anomaly, Broad ribs ORPHA:85184
Cenani-Lenz Syndrome
Scoliosis, Abnormal form of the vertebral bodies, Synostosis of carpal bones, Radioulnar synostos... ORPHA:3258
Gm1-Gangliosidosis, Type I
Thickened ribs, Kyphosis, Beaking of vertebral bodies, Hypoplastic vertebral bodies, Joint stiffn... OMIM:230500
Familial Osteodysplasia, Anderson Type
Kyphosis, Recurrent fractures, Scoliosis, Abnormal form of the vertebral bodies, Aplastic clavicl... ORPHA:2769
Robinow Syndrome
Rib fusion, Kyphoscoliosis, Fused thoracic vertebrae, Hemivertebrae, Scoliosis, Radioulnar disloc... ORPHA:97360
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Flexion contracture, Multiple rib fractures, Short ribs, Osteopenia, Short neck, Platyspondyly, W... OMIM:616897
Microcephalic Primordial Dwarfism, Toriello Type
Abnormal rib morphology, Delayed skeletal maturation ORPHA:2643
Acro-Renal-Mandibular Syndrome
Sprengel anomaly, Kyphosis, Abnormal clavicle morphology, Butterfly vertebrae, Thin ribs, Hemiver... ORPHA:958
Pallister-Hall Syndrome
Radial head subluxation, Rib fusion, Hemivertebrae, Hip dislocation OMIM:146510
Atelosteogenesis, Type I
Narrow chest, Knee dislocation, Long clavicles, Short neck, 11 pairs of ribs, Bell-shaped thorax,... OMIM:108720
Hypophosphatasia
Narrow chest, Recurrent fractures, Craniosynostosis, Abnormal rib morphology ORPHA:436
Spondylometaphyseal Dysplasia, Algerian Type
Kyphoscoliosis, Lumbar hyperlordosis, Platyspondyly, Anterior rib cupping, Carpal bone hypoplasia... OMIM:184253
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Abnormal rib morphology, Vertebral segmentation defect ORPHA:1120
Zttk Syndrome
Kyphosis, Rib fusion, Flexion contracture, Craniosynostosis, Hemivertebrae, Scoliosis, Cervical r... OMIM:617140
Craniofaciofrontodigital Syndrome
Pectus excavatum, Hypoplastic vertebral bodies, Short neck, Broad ribs, Cubitus valgus, Joint hyp... OMIM:114620
Cantú Syndrome
Narrow chest, Accelerated skeletal maturation, Platyspondyly, Short neck, Osteoporosis, Broad rib... ORPHA:1517
Thanatophoric Dysplasia, Type I
Narrow chest, Wide-cupped costochondral junctions, Small abnormally formed scapulae, Short ribs, ... OMIM:187600
Chromosome 8Q22.1 Duplication Syndrome
Cervical C2/C3 vertebral fusion, Joint stiffness, Genu recurvatum, Enlarged interphalangeal joint... OMIM:151200
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Platyspondyly, Thin ribs ORPHA:163966
Spondylometaphyseal Dysplasia, Sedaghatian Type
Narrow chest, Accelerated skeletal maturation, Abnormal scapula morphology, Platyspondyly, Abnorm... ORPHA:93317
Craniometadiaphyseal Dysplasia
Sclerosis of skull base, Osteopenia, Scoliosis, Wormian bones, Genu varum, Genu valgum, Broad rib... OMIM:269300
Otopalatodigital Syndrome Type 2
Narrow chest, Carpal synostosis, Increased bone mineral density, Abnormal vertebral segmentation ... ORPHA:90652
Campomelia, Cumming Type
Abnormal rib morphology, Abnormally ossified vertebrae, Abnormal thorax morphology ORPHA:1318
Faciodigitogenital Syndrome, Autosomal Recessive
Pectus excavatum, Abnormal rib cage morphology, Down-sloping shoulders, Camptodactyly, Vertebral ... OMIM:227330
Microcephaly, Short Stature, And Limb Abnormalities
Dislocated radial head, Radioulnar synostosis, Abnormal rib morphology, Patellar aplasia, Delayed... OMIM:617604
Metaphyseal Dysostosis, Mental Retardation, And Conductive Deafness
Irregular chondrocostal junctions, Lumbar hyperlordosis, Short ribs, Flat glenoid fossa, Scoliosi... OMIM:250420
Mosaic Trisomy 8
Narrow chest, Vertebral segmentation defect, Camptodactyly of finger, Short neck, Scoliosis, Abno... ORPHA:96061
Otosclerosis 8
Otosclerosis OMIM:612096
Otosclerosis 3
Otosclerosis OMIM:608244
Microcephaly-Micromelia Syndrome
Narrow chest, Craniosynostosis, Short neck, Abnormal rib morphology, Humeroradial synostosis OMIM:251230
Cat-Eye Syndrome
Abnormal rib morphology ORPHA:195
Kniest-Like Dysplasia, Lethal
Narrow chest, Hypoplastic vertebral bodies, Short ribs, Platyspondyly, Short neck, Broad ribs, Co... OMIM:245190
Intellectual Developmental Disorder, Autosomal Dominant 52
Cervical C2/C3 vertebral fusion, Lumbar hyperlordosis, Pectus carinatum, Lumbar scoliosis, Scapul... OMIM:617796
Pyknoachondrogenesis
Enlarged thorax, Sclerosis of skull base, Unossified sacrum, Short ribs, Poorly ossified vertebra... ORPHA:3003
Occipital Horn Syndrome
Narrow chest, Kyphosis, Short clavicles, Pectus excavatum, Platyspondyly, Broad clavicles, Pectus... OMIM:304150
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Unilateral chest hypoplasia, Abnormality of the vertebral column, Scoliosis, Abnormal rib morphol... OMIM:308205
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly
Kyphosis, Joint dislocation, Platyspondyly, Joint hyperflexibility, Limited elbow extension, Hype... OMIM:618019
Wolf-Hirschhorn Syndrome
Delayed skeletal maturation, Rib fusion, Kyphosis, Abnormal sternal ossification, Scoliosis, Abno... OMIM:194190
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development
Arthrogryposis multiplex congenita, Thin ribs, Craniosynostosis OMIM:618265
Lethal Congenital Contracture Syndrome 10
Narrow chest, Thoracic scoliosis, Short neck, Broad ribs, Stiff neck OMIM:617022
Radio-Renal Syndrome
Abnormal rib morphology, Short neck, Abnormal form of the vertebral bodies, Abnormality of the elbow ORPHA:3015
Osteogenesis Imperfecta, Type Vii
Narrow chest, Recurrent fractures, Pectus excavatum, Multiple rib fractures, Osteopenia, Decrease... OMIM:610682
Alagille Syndrome
Vertebral segmentation defect, Abnormal form of the vertebral bodies, Spina bifida occulta, Abnor... ORPHA:52
Cleidocranial Dysplasia
Narrow chest, Recurrent fractures, Short clavicles, Down-sloping shoulders, Scoliosis, Osteoporos... ORPHA:1452
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome
Cervical C2/C3 vertebral fusion ORPHA:370010
Ossification Anomalies-Psychomotor Developmental Delay Syndrome
Narrow chest, Abnormal bone ossification, Thin ribs, Abnormal form of the vertebral bodies, Abnor... ORPHA:73230
X-Linked Hypophosphatemia
Limitation of joint mobility, Craniosynostosis, Reduced bone mineral density, Rachitic rosary, Ge... ORPHA:89936
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Recurrent fractures, Delayed epiphyseal ossification, Widely patent fontanelles and sutures, Enla... OMIM:600081
Koolen-De Vries Syndrome
Kyphosis, Pectus excavatum, Spondylolisthesis, Prominent metopic ridge, Scoliosis, Joint hypermob... OMIM:610443
Greenberg Dysplasia
Anterior rib punctate calcifications, Horizontal sacrum, Barrel-shaped chest, Platyspondyly, 11 p... OMIM:215140
Poland Syndrome
Sprengel anomaly, Vertebral segmentation defect, Kyphosis, Abnormal sternum morphology, Asymmetry... ORPHA:2911
Cartilage-Hair Hypoplasia
Narrow chest, Lumbar hyperlordosis, Prominent sternum, Asymmetry of the thorax, Narrow vertebral ... OMIM:250250
Renpenning Syndrome
Sprengel anomaly, Joint stiffness, Pectus excavatum, Abnormal rib morphology ORPHA:3242
Kyphomelic Dysplasia
Limitation of joint mobility, Undulate ribs, Platyspondyly, Anterior rib cupping, Pterygium, Flat... OMIM:211350
Tetraamelia-Multiple Malformations Syndrome
Abnormal rib morphology, Missing ribs, Abnormally ossified vertebrae ORPHA:3301
Craniosynostosis, Herrmann-Opitz Type
Abnormal rib morphology, Craniosynostosis ORPHA:2145
Otosclerosis 10
Otosclerosis OMIM:615589
Sifrim-Hitz-Weiss Syndrome
Fused cervical vertebrae, Short clavicles, Wormian bones, Flat acetabular roof OMIM:617159
1P36 Deletion Syndrome
Bifid ribs, Rib fusion, Spinal canal stenosis, Kyphosis, Joint stiffness, Delayed cranial suture ... ORPHA:1606
Autosomal Recessive Kenny-Caffey Syndrome
Thin ribs, Thin clavicles, Delayed cranial suture closure, Calvarial osteosclerosis, Delayed skel... ORPHA:93324
Lymphangiectasia, Intestinal
Prominent floating ribs OMIM:152800
Kenny-Caffey Syndrome, Type 1
Thin ribs, Long clavicles, Thin clavicles, Delayed closure of the anterior fontanelle, Calvarial ... OMIM:244460
Trisomy 13
Narrow chest, Kyphosis, Scoliosis, Abnormal rib morphology ORPHA:3378
Antley-Bixler Syndrome
Narrow chest, Joint stiffness, Recurrent fractures, Elbow ankylosis, Craniosynostosis, Delayed cr... ORPHA:83
Frontometaphyseal Dysplasia
Sprengel anomaly, Dislocated radial head, Sclerosis of skull base, Joint contracture of the hand,... ORPHA:1826
Autosomal Dominant Popliteal Pterygium Syndrome
Abnormal rib morphology, Joint stiffness, Popliteal pterygium, Scoliosis ORPHA:1300
Cartilage-Hair Hypoplasia
Narrow chest, Abnormal bone ossification, Accelerated skeletal maturation, Abnormally ossified ve... ORPHA:175
Meier-Gorlin Syndrome 1
Absent glenoid fossa, Hemivertebrae, Pectus carinatum, Genu valgum, Delayed skeletal maturation, ... OMIM:224690
Otosclerosis 1
Otosclerosis OMIM:166800
Hurler Syndrome
Spinal canal stenosis, Abnormal clavicle morphology, Camptodactyly of finger, Short neck, Scolios... ORPHA:93473
Lethal Congenital Contracture Syndrome 5
Congenital contracture, Flexion contracture, Thin ribs OMIM:615368
Camptodactyly Syndrome, Guadalajara Type 3
Osteopenia, Short neck, Spina bifida occulta, Abnormal rib morphology, Delayed skeletal maturation ORPHA:488434
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Rib fusion, Kyphoscoliosis, Lumbar hyperlordosis, Hemivertebrae, Cervical ribs, Metopic synostosi... ORPHA:500150
Kagami-Ogata Syndrome
Kyphoscoliosis, Flexion contracture, Long clavicles, Thin ribs, Bell-shaped thorax OMIM:608149
Acromesomelic Dysplasia 4
Beaking of vertebral bodies, Thoracic scoliosis, Prominent sternum, Lumbar hyperlordosis, Acceler... OMIM:619636
Opsismodysplasia
Narrow chest, Hypoplastic vertebral bodies, Short neck, Anterior rib cupping, Scoliosis, Bell-sha... OMIM:258480
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Narrow chest, Short ribs, Horizontal ribs, Thoracic hypoplasia, Lateral clavicle hook OMIM:617895
Myhre Syndrome
Joint stiffness, Platyspondyly, Enlarged vertebral pedicles, Short neck, Camptodactyly, Broad rib... OMIM:139210
Osteogenesis Imperfecta
Pectus excavatum, Osteopenia, Biconcave vertebral bodies, Pectus carinatum, Genu valgum, Thoracic... ORPHA:666
Shwachman-Diamond Syndrome 1
Narrow chest, Anterior rib cupping, Enlargement of the costochondral junction, Ovoid vertebral bo... OMIM:260400
Shprintzen-Goldberg Craniosynostosis Syndrome
Dislocated radial head, Pectus excavatum, Genu recurvatum, Joint contracture of the hand, Thin ri... OMIM:182212
Vacterl/Vater Association
Abnormal rib morphology, Abnormal sacrum morphology, Vertebral segmentation defect, Abnormal inte... ORPHA:887
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
Delayed proximal femoral epiphyseal ossification, Short neck, 11 pairs of ribs, Platyspondyly, Ge... OMIM:271640
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type
Pectus excavatum, Short ribs, Atlantoaxial instability, Platyspondyly, Anterior rib cupping, Scol... OMIM:271665
X-Linked Myotubular Myopathy-Abnormal Genitalia Syndrome
Thin ribs, Joint hypermobility ORPHA:456328
Mucopolysaccharidosis, Type Vi
Avascular necrosis, Joint stiffness, Kyphoscoliosis, Lumbar hyperlordosis, Prominent sternum, Hyp... OMIM:253200
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
Pectus excavatum, Abnormal bone ossification, Thin ribs, Osteopenia, Joint hypermobility, Lumbar ... ORPHA:2463
Sclerosteosis 1
Sclerotic scapulae, Broad ribs, Broad clavicles, Sclerotic vertebral endplates OMIM:269500
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Abnormal rib morphology, Abnormal sternum morphology, Broad ribs, Short ribs ORPHA:2519
Arnold-Chiari Malformation Type I
Cervical C2/C3 vertebral fusion, Scoliosis, Fused cervical vertebrae, Stiff neck, Anteriorly plac... ORPHA:268882
Fanconi Anemia, Complementation Group I
Fused cervical vertebrae, Short neck OMIM:609053
Nestor-Guillermo Progeria Syndrome
Joint stiffness, Thin ribs, Flexion contracture, Scoliosis, Wide cranial sutures, Osteoporosis, P... OMIM:614008
Aspergillosis
Abnormal rib morphology, Osteomyelitis, Abnormality of the vertebral column ORPHA:1163
Acrorenal-Mandibular Syndrome
Narrow chest, Kyphoscoliosis, Butterfly vertebrae, Thin ribs, Hemivertebrae, Hypoplastic scapulae... OMIM:200980
Mucopolysaccharidosis, Type Iiid
Thickened ribs, Joint stiffness, Thoracic scoliosis, Hypoplastic vertebral bodies, Short neck, Ov... OMIM:252940
Schwartz-Jampel Syndrome
Pectus excavatum, Abnormally ossified vertebrae, Short neck, Platyspondyly, Pectus carinatum, Gen... ORPHA:800
Multiple Pterygium-Malignant Hyperthermia Syndrome
Kyphosis, Pectus excavatum, Prominent metopic ridge, Camptodactyly of finger, Scoliosis, Abnormal... ORPHA:2215
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Flexion contracture, Thin ribs OMIM:614833
Chromosome 1P36 Deletion Syndrome, Distal
Bifid ribs, Rib fusion, Camptodactyly of finger, 11 pairs of ribs, Scoliosis, Camptodactyly, Dela... OMIM:607872
Thakker-Donnai Syndrome
Cervical C2/C3 vertebral fusion, Hemivertebrae, Short neck ORPHA:1780
Simpson-Golabi-Behmel Syndrome
Vertebral segmentation defect, Pectus excavatum, Accelerated skeletal maturation, Camptodactyly o... ORPHA:373
Monosomy 9Q22.3
Kyphosis, Pectus excavatum, Accelerated skeletal maturation, Abnormality of the vertebral column,... ORPHA:77301
Severe Congenital Nemaline Myopathy
Flexion contracture, Thin ribs, Abnormal thorax morphology, Arthrogryposis multiplex congenita, M... ORPHA:171430
Otosclerosis 4
Otosclerosis OMIM:611571
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Thoracic scoliosis, Pectus excavatum, Generalized joint laxity, Shoulder subluxation, Short neck,... ORPHA:508498
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Narrow chest, Lateral clavicle hook, Short ribs, Platyspondyly, Pectus carinatum, Horizontal ribs... OMIM:263520
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Acetabular spurs, Short ribs, Scoliosis, Horizontal ribs, Thoracic hypoplasia, Lateral clavicle hook OMIM:613091
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Butterfly vertebrae, Posterior rib fusion OMIM:265380
Fibrous Dysplasia Of Bone
Abnormal clavicle morphology, Scoliosis, Abnormal lumbar spine morphology, Osteomalacia, Patholog... ORPHA:249
Van Den Ende-Gupta Syndrome
Dislocated radial head, Short clavicles, Pectus excavatum, Joint contracture of the hand, Thin ri... OMIM:600920
Kagami-Ogata Syndrome
Kyphoscoliosis, Limitation of joint mobility, Coat hanger sign of ribs, Short neck, Bell-shaped t... ORPHA:254519
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Cupped ribs, Platyspondyly, Scoliosis, Ovoid vertebral bodies ORPHA:85167
Duane Retraction Syndrome
Abnormal vertebral segmentation and fusion, Short neck, Abnormal form of the vertebral bodies, Sp... ORPHA:233
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion
Flexion contracture of finger, Pectus excavatum, Prominent sternum, Flexion contracture, Coat han... ORPHA:254528
Ellis-Van Creveld Syndrome
Narrow chest, Acetabular spurs, Short ribs, Pectus carinatum, Genu valgum, Horizontal ribs, Capit... OMIM:225500
Duane-Radial Ray Syndrome
Fused cervical vertebrae, Spina bifida occulta, Shoulder dislocation, Scoliosis OMIM:607323
Spondylometaphyseal Dysplasia, Sedaghatian Type
Narrow chest, Delayed epiphyseal ossification, Short ribs, Horizontal inferior border of scapula,... OMIM:250220
Weill-Marchesani Syndrome 1
Spinal canal stenosis, Joint stiffness, Lumbar hyperlordosis, Scoliosis, Broad ribs OMIM:277600
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Elbow ankylosis, Craniosynostosis, Radioulnar synostosis, Metacarpal synostosis, Flexion contract... ORPHA:95699
Cerebrocostomandibular Syndrome
Calcaneal epiphyseal stippling, Rib gap, Anomalous rib insertion to vertebrae, Congenital hip dis... OMIM:117650
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Delayed skeletal maturation, Horizontal ribs, Bell-shaped thorax OMIM:614857
Apert Syndrome
Delayed epiphyseal ossification, Humeroradial synostosis, Craniosynostosis, Coronal craniosynosto... OMIM:101200
Short Rib-Polydactyly Syndrome
Narrow chest, Acetabular spurs, Abnormal bone ossification, Short ribs, Reduced bone mineral dens... ORPHA:1505
Pallister-Hall Syndrome
Rib fusion, Hemivertebrae, Distal arthrogryposis, Radial head subluxation, Hip dislocation ORPHA:672
Xylt1-Cdg
Short clavicles, Joint dislocation, Accelerated skeletal maturation, Broad ribs, Joint laxity ORPHA:370930
Frontometaphyseal Dysplasia 2
Dislocated radial head, Hip contracture, Pectus excavatum, Congenital hip dislocation, Scoliosis,... OMIM:617137
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1
Kyphoscoliosis, Joint dislocation, Thin ribs, Osteopenia, Platyspondyly, Congenital hip dislocati... OMIM:225400
Oculocerebrocutaneous Syndrome
Abnormal rib morphology, Congenital hip dislocation, Missing ribs ORPHA:1647
Acro-Renal-Ocular Syndrome
Vertebral segmentation defect, Vertebral fusion ORPHA:959
Spondyloepimetaphyseal Dysplasia, X-Linked
Kyphosis, Short clavicles, Lumbar hyperlordosis, Delayed ossification of carpal bones, Anterior w... OMIM:300106
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
Waardenburg Syndrome, Type 1
Sprengel anomaly, Supernumerary ribs, Supernumerary vertebrae OMIM:193500
Trisomy 1Q
Abnormal rib morphology, Camptodactyly of finger, Short thorax ORPHA:261344
Stuve-Wiedemann Syndrome 1
Enlarged joints, Thin ribs, Short neck, Scoliosis, Osteoporosis, Talipes valgus, Pathologic fract... OMIM:601559
Thrombocytopenia-Absent Radius Syndrome
Carpal synostosis, Genu varum, Carpal bone hypoplasia, Fused cervical vertebrae, Cervical ribs, A... OMIM:274000
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Thin ribs, Long clavicles, Coronal craniosynostosis, Contracture of the distal interphalangeal jo... ORPHA:83617
Osteopathia Striata With Cranial Sclerosis
Sclerosis of skull base, Pectus excavatum, Joint contracture of the hand, Tracheomalacia, Scolios... OMIM:300373
Campomelic Dysplasia
Poorly ossified cervical vertebrae, 11 pairs of ribs, Pectus carinatum, Thoracic hypoplasia, Abse... OMIM:114290
Myhre Syndrome
Abnormal rib morphology, Joint stiffness, Platyspondyly ORPHA:2588
Cerebrocostomandibular Syndrome
Posterior rib gap, Kyphosis, Tracheomalacia, Bell-shaped thorax ORPHA:1393
Alpha-Mannosidosis, Infantile Form
Thickened ribs, Joint stiffness, Avascular necrosis, Pectus excavatum, Craniosynostosis, Osteopen... ORPHA:309282
Apert Syndrome
Vertebral segmentation defect, Cervical C5/C6 vertebrae fusion ORPHA:87
Mucopolysaccharidosis Type 3
Joint stiffness, Abnormal clavicle morphology, Flexion contracture, Reduced bone mineral density,... ORPHA:581
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Narrow chest, Short ribs, Decreased calvarial ossification, Short neck, Long thorax, Horizontal r... OMIM:617925
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Prominent sternum, Elbow ankylosis, Aplasia/Hypoplasia involving the carpal bones, Humeroradial s... OMIM:276820
Lenz-Majewski Hyperostotic Dwarfism
Proximal symphalangism of hands, Hyperextensibility of the finger joints, Delayed cranial suture ... OMIM:151050
Renal Dysplasia-Limb Defects Syndrome
Short neck, Short sternum, Thin ribs, Short ribs OMIM:266910
Gracile Bone Dysplasia
Decreased skull ossification, Thin ribs OMIM:602361
Hallermann-Streiff Syndrome
Pectus excavatum, Abnormal rib cage morphology, Thin ribs, Tracheomalacia, Scoliosis, Wormian bon... OMIM:234100
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Flexion contracture of thumb, Pectus excavatum, Prominent sternum, Absent glenoid fossa, Hemivert... ORPHA:96334
Weill-Marchesani Syndrome 2
Spinal canal stenosis, Joint stiffness, Lumbar hyperlordosis, Scoliosis, Broad ribs, Elbow flexio... OMIM:608328
Short-Rib Thoracic Dysplasia 12
Narrow chest, Short ribs, Short neck, Hypoplastic scapulae, Horizontal ribs, Short thorax, Thorac... OMIM:269860
Craniotubular Dysplasia, Ikegawa Type
Sclerosis of skull base, Platyspondyly, Broad ribs, Increased intervertebral space OMIM:619727
Chops Syndrome
Cervical C2/C3 vertebral fusion, Tracheomalacia OMIM:616368
Ulbright-Hodes Syndrome
Short sternum, Thin ribs, Short ribs, Short neck, Ovoid thoracolumbar vertebrae, Abnormal rib mor... ORPHA:3404
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Narrow chest, Short ribs, Bell-shaped thorax, Horizontal ribs, Unicoronal synostosis, Flat acetab... OMIM:616300
Autosomal Dominant Centronuclear Myopathy
Thin ribs ORPHA:169189
Monosomy 9P
Abnormality of the vertebral column, Short neck, Scoliosis, Abnormal rib morphology, Limitation o... ORPHA:261112
Eiken Syndrome
Delayed epiphyseal ossification, Delayed ossification of carpal bones, Delayed tarsal ossificatio... OMIM:600002
Schinzel-Giedion Midface Retraction Syndrome
Sclerosis of skull base, Widely patent fontanelles and sutures, Short sternum, Long clavicles, Sh... OMIM:269150
Dextrocardia
Abnormal rib morphology, Congenital hip dislocation ORPHA:1666
Vater/Vacterl Association
Abnormal sternum morphology, Scoliosis, Radioulnar synostosis, Abnormal rib morphology, Abnormal ... OMIM:192350
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies
Limited elbow extension, Hyperlordosis, Genu valgum, Broad ribs, Hip dislocation OMIM:301066
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Narrow chest, Short ribs, Early ossification of capital femoral epiphyses, Horizontal ribs, Thora... OMIM:208500
Fetal Akinesia Deformation Sequence 1
Elbow ankylosis, Thin ribs, Camptodactyly of finger, Short neck, Arthrogryposis multiplex congeni... OMIM:208150
Pseudo-Torch Syndrome 2
Thin ribs OMIM:617397
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Dislocated radial head, Short clavicles, Pectus excavatum, Craniosynostosis, Undulate ribs, Short... OMIM:609945
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Narrow chest, Short clavicles, Short ribs, Aplasia of the epiglottis, Horizontal ribs OMIM:617088
Ear-Patella-Short Stature Syndrome
Craniosynostosis, Camptodactyly of finger, Aplastic clavicle, Abnormal rib morphology, Patellar a... ORPHA:2554
Alagille Syndrome 1
Abnormal rib morphology, Hemivertebrae, Butterfly vertebral arch OMIM:118450
Oculocerebrorenal Syndrome Of Lowe
Kyphosis, Joint swelling, Joint stiffness, Recurrent fractures, Platyspondyly, Scoliosis, Osteoma... ORPHA:534
Mucopolysaccharidosis Type 2, Severe Form
Thickened ribs, Spinal canal stenosis, Flexion contracture, Camptodactyly of finger, Arthritis, A... ORPHA:217085
Mucopolysaccharidosis Type 2, Attenuated Form
Thickened ribs, Spinal canal stenosis, Flexion contracture, Camptodactyly of finger, Arthritis, A... ORPHA:217093
Autosomal Recessive Malignant Osteopetrosis
Narrow chest, Recurrent fractures, Craniosynostosis, Osteopetrosis, Reduced bone mineral density,... ORPHA:667
Restrictive Dermopathy
Multiple joint contractures, Widely patent fontanelles and sutures, Thin ribs, Aplasia/Hypoplasia... ORPHA:1662
Smith-Lemli-Opitz Syndrome
Kyphosis, Short neck, Scoliosis, Abnormal form of the vertebral bodies, Abnormal rib morphology, ... ORPHA:818
Cranioectodermal Dysplasia 2
Narrow chest, Pectus excavatum, Short ribs, Craniosynostosis, Short neck, Metopic synostosis, Hor... OMIM:613610
Craniofacial Microsomia
Hemivertebrae, Scoliosis, Cervical ribs, Genu valgum, Vertebral hypoplasia, Block vertebrae OMIM:164210
Schinzel-Giedion Syndrome
Kyphoscoliosis, Abnormal clavicle morphology, Sclerosis of skull base, Short neck, Scoliosis, Wor... ORPHA:798
Heterotaxy, Visceral, 1, X-Linked
Block vertebrae, Congenital hip dislocation, Absence of the sacrum OMIM:306955
Hereditary Acrokeratotic Poikiloderma
Abnormal rib morphology, Camptodactyly of finger, Joint hyperflexibility ORPHA:2907
Trisomy 18
Abnormal rib morphology, Camptodactyly of finger, Delayed skeletal maturation ORPHA:3380
Elsahy-Waters Syndrome
Cervical C2/C3 vertebral fusion, Pectus excavatum OMIM:211380
Mandibuloacral Dysplasia Progeroid Syndrome
Joint stiffness, Pectus excavatum, Thin ribs, Flexion contracture, Osteopenia, Delayed cranial su... OMIM:619127
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Cervical C2/C3 vertebral fusion, Tracheomalacia, Wormian bones, Hip subluxation, Abnormal vertebr... ORPHA:444077
Coccidioidomycosis
Osteomyelitis, Abnormality of the vertebral column, Arthritis, Osteolysis, Broad ribs ORPHA:228123
Generalized Arterial Calcification Of Infancy
Hypophosphatemic rickets, Osteomalacia, Abnormal calcification of the carpal bones, Fused cervica... ORPHA:51608
Osteopetrosis, Autosomal Recessive 7
Osteopetrosis, Multiple rib fractures OMIM:612301
Fryns Syndrome
Joint contracture of the hand, Thin ribs, Short neck, Camptodactyly, Broad ribs, Thoracic hypoplasia OMIM:229850
Charge Syndrome
Abnormal rib morphology, Hemivertebrae, Scoliosis, Abnormality of bone mineral density ORPHA:138
Kindler Epidermolysis Bullosa
Abnormal rib morphology, Camptodactyly of finger, Flexion contracture ORPHA:2908
Pagod Syndrome
Abnormal rib morphology, Abnormal clavicle morphology ORPHA:991
Townes-Brocks Syndrome
Abnormal rib morphology, Abnormal vertebral morphology ORPHA:857
Osteopetrosis With Renal Tubular Acidosis
Osteopetrosis, Recurrent fractures, Pectus excavatum, Prominent floating ribs ORPHA:2785
Wiedemann-Rautenstrauch Syndrome
Narrow chest, Widely patent fontanelles and sutures, Thin ribs, Flexion contracture, Short neck, ... OMIM:264090
Charge Syndrome
Hemivertebrae, Down-sloping shoulders, Scoliosis, Abnormal rib morphology, Radial head subluxation OMIM:214800

Histopathology

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

There is no histopathology data for Cdx1

IMPC related publications

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

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

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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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