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Gene: Vrtn MGI:3588197

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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:
vertebrae development associated
Synonyms:
7420416P09Rik

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 Vrtn 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 Vrtn by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Scheuermann Disease
Kyphosis, Morbus Scheuermann OMIM:181440
Cervical Rib
Cervical ribs OMIM:117900
Intellectual Developmental Disorder, X-Linked 82
Kyphosis, Scoliosis OMIM:300518
Autosomal Dominant Brachyolmia
Increased vertebral height, Platyspondyly, Short thorax, Kyphoscoliosis ORPHA:93304
Osteomesopyknosis
Kyphosis, Sclerotic vertebral body, Scoliosis, Abnormal form of the vertebral bodies ORPHA:2777
Spondylocostal Dysostosis 3, Autosomal Recessive
Kyphosis, Hypoplasia of the odontoid process, Rib fusion, Vertebral segmentation defect, Scoliosi... OMIM:609813
Neurogenic Thoracic Outlet Syndrome
Abnormal rib morphology ORPHA:100073
Spondylocostal Dysostosis 6, Autosomal Recessive
Cervical kyphosis, Hemivertebrae, Spinal canal stenosis, Scoliosis, Butterfly vertebrae OMIM:616566
Parastremmatic Dwarfism
Kyphosis, Scoliosis, Short neck OMIM:168400
Acromesomelic Dysplasia, Maroteaux Type
Ovoid vertebral bodies, Hyperlordosis, Kyphosis, Abnormal form of the vertebral bodies, Vertebral... ORPHA:40
Horizontal Gaze Palsy With Progressive Scoliosis
Kyphosis, Scoliosis, Short neck ORPHA:2744
Sprengel Deformity
Rib segmentation abnormalities, Cervical segmentation defect, Hemivertebrae, Scoliosis, Sprengel ... OMIM:184400
Brachyolmia Type 1, Hobaek Type
Back pain, Short neck, Kyphosis, Pectus carinatum, Squared-off platyspondyly, Scoliosis, Interver... OMIM:271530
Spondylocostal Dysostosis 2, Autosomal Recessive
Short neck, Vertebral clefting, Hemivertebrae, Rib fusion, Vertebral segmentation defect OMIM:608681
Ichthyosis--Cheek--Eyebrow Syndrome
Abnormal thorax morphology, Kyphoscoliosis OMIM:146720
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type
Lumbar hyperlordosis, Pectus carinatum, Irregular vertebral endplates, Platyspondyly, Thoracic ky... OMIM:609223
Spondylocostal Dysostosis 5
Vertebral fusion, Low back pain, Short neck, Missing ribs, Hemivertebrae, Pectus carinatum, Poste... OMIM:122600
Fibrosis Of Extraocular Muscles, Congenital, 3C
Pectus excavatum, Kyphosis OMIM:609384
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis
Thoracolumbar kyphosis, Kyphoscoliosis OMIM:236660
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Abnormal rib morphology, Scoliosis, Pectus carinatum ORPHA:3268
Thoracic Dysostosis, Isolated
Pectus excavatum, Short ribs, Bell-shaped thorax OMIM:187750
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome
Abnormal rib morphology ORPHA:2435
Heart Defects-Limb Shortening Syndrome
Kyphosis, Abnormal rib morphology, Narrow chest, Abnormal form of the vertebral bodies ORPHA:1354
Thoracomelic Dysplasia
Bell-shaped thorax, Short ribs OMIM:273740
Becker Nevus Syndrome
Cervical ribs, Pectus excavatum, Hemivertebrae, Scoliosis OMIM:604919
Brachyolmia Type 1, Toledo Type
Back pain, Kyphoscoliosis, Short neck, Precocious costochondral ossification, Irregular vertebral... OMIM:271630
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Superior rib anomalies, Abnormality of the cervical spine OMIM:307500
Spondylocostal Dysostosis 1, Autosomal Recessive
Back pain, Vertebral fusion, Block vertebrae, Abnormal odontoid process morphology, Kyphoscoliosi... OMIM:277300
Autosomal Dominant Spondylocostal Dysostosis
Hyperlordosis, Short neck, Missing ribs, Abnormal sacrum morphology, Short thorax, Abnormal rib m... ORPHA:1797
Thoracolaryngopelvic Dysplasia
Irregular chondrocostal junctions, Bell-shaped thorax, Irregular vertebral endplates, Short ribs,... OMIM:187760
Spastic Paraplegia 18B, Autosomal Recessive
Kyphosis, Scoliosis OMIM:611225
Bethlem Myopathy 2
Kyphosis, Scapular winging, Scoliosis OMIM:616471
Endosteal Hyperostosis, Worth Type
Clavicular sclerosis, Sclerotic vertebral body, Abnormal rib morphology, Abnormal form of the ver... ORPHA:2790
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Spinal rigidity, Hyperlordosis, Kyphosis, Short neck, Scoliosis OMIM:300718
Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant
Barrel-shaped chest, Lumbar hyperlordosis, Kyphoscoliosis, Short neck, Hypoplasia of the odontoid... OMIM:184100
Osteogenesis Imperfecta, Type Ix
Beaded ribs, Pectus excavatum, Kyphosis, Pectus carinatum, Platyspondyly, Scoliosis OMIM:259440
Kyphomelic Dysplasia
Anterior rib cupping, Missing ribs, Lateral clavicle hook, Short thorax, Undulate ribs, Abnormal ... ORPHA:1801
Myotonia With Skeletal Abnormalities And Mental Retardation
Bell-shaped thorax, Vertebral wedging, Kyphoscoliosis, Pectus carinatum OMIM:255710
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies
Kyphosis OMIM:618453
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers
Pectus excavatum, Kyphosis, Scoliosis, Pectus carinatum ORPHA:276630
Spondylometaphyseal Dysplasia, A4 Type
Platyspondyly, Flared, irregular rib ends ORPHA:168555
Metatropic Dysplasia
Abnormal intervertebral disk morphology, Kyphosis, Abnormal rib morphology, Abnormal form of the ... ORPHA:2635
Isolated Klippel-Feil Syndrome
Short neck, Abnormal sacrum morphology, Abnormal rib morphology, Abnormal shoulder morphology, Ab... ORPHA:2345
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly
Lateral clavicle hook, Narrow chest, Short ribs, Horizontal ribs OMIM:617405
Spondyloepiphyseal Dysplasia Tarda, X-Linked
Back pain, Barrel-shaped chest, Lumbar hyperlordosis, Short neck, Kyphosis, Shield chest, Platysp... OMIM:313400
Brachyolmia Type 3
Barrel-shaped chest, Short neck, Kyphosis, Platyspondyly, Scoliosis OMIM:113500
Becker Nevus Syndrome
Pectus excavatum, Kyphosis, Rib fusion, Pectus carinatum, Supernumerary ribs, Scoliosis, Spina bi... ORPHA:64755
Myasthenic Syndrome, Congenital, 25, Presynaptic
Kyphosis, Scoliosis, Spinal rigidity OMIM:618323
Intellectual Developmental Disorder With Muscle Tone Abnormalities And Distal Skeletal Defects
Kyphosis, Pectus carinatum OMIM:620007
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome
Kyphosis, Scoliosis, Pectus carinatum ORPHA:1548
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B
Kyphosis, Scoliosis OMIM:617087
Spondyloepiphyseal Dysplasia, Kondo-Fu Type
Kyphosis, Pectus carinatum OMIM:618392
Mucolipidosis Iii Gamma
Hyperlordosis, Short neck, Kyphosis, Pectus carinatum, Abnormal rib cage morphology, Scoliosis OMIM:252605
Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability
Kyphosis, Spinal rigidity, Scoliosis, Hyperlordosis OMIM:617404
Intellectual Developmental Disorder, X-Linked, Syndromic 14
Pectus excavatum, Kyphosis, Pectus carinatum, Narrow chest, Scoliosis OMIM:300676
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Abnormal clavicle morphology, Hyperlordosis, Short neck, Kyphosis, Pectus excavatum, Abnormal rib... ORPHA:2522
X-Linked Charcot-Marie-Tooth Disease Type 1
Kyphosis, Scoliosis ORPHA:101075
Autosomal Recessive Spastic Paraplegia Type 53
Kyphosis, Pectus carinatum ORPHA:319199
Winchester Syndrome
Kyphosis OMIM:277950
Metatropic Dysplasia
Relatively short spine, Kyphoscoliosis, Clavicular pseudarthrosis, Hypoplasia of the odontoid pro... OMIM:156530
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 8
Kyphosis, Scoliosis, Hyperlordosis OMIM:600175
X-Linked Intellectual Disability, Stocco Dos Santos Type
Kyphosis ORPHA:85288
Fetal Akinesia Deformation Sequence 4
11 pairs of ribs, Kyphosis, Short neck OMIM:618393
Spondylometaphyseal Dysplasia, X-Linked
Kyphosis, Platyspondyly, Thoracolumbar scoliosis, Pectus carinatum OMIM:313420
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2
Vertebral segmentation defect, Abnormal rib morphology, Short neck ORPHA:2578
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Lateral clavicle hook, Bell-shaped thorax, Thoracic dysplasia, Narrow chest, Horizontal ribs OMIM:615633
X-Linked Charcot-Marie-Tooth Disease Type 4
Kyphosis, Scoliosis ORPHA:101078
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type
Kyphosis, Scoliosis OMIM:300434
Spastic Paraplegia 53, Autosomal Recessive
Kyphosis, Pectus carinatum OMIM:614898
Idiopathic Juvenile Osteoporosis
Kyphosis, Vertebral compression fracture ORPHA:85193
Osteogenesis Imperfecta, Type Xv
Platyspondyly, Scoliosis, Thin ribs OMIM:615220
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita
Bell-shaped thorax, Kyphosis, Scoliosis, Short neck ORPHA:178148
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant
Scapular winging, Hyperlordosis, Pectus excavatum, Kyphosis, Scoliosis OMIM:615290
Weismann-Netter Syndrome
Kyphosis, Horizontal sacrum, Scoliosis OMIM:112350
Bruck Syndrome 1
Kyphosis, Vertebral wedging, Pectus carinatum, Platyspondyly, Scoliosis OMIM:259450
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Kyphosis, Platyspondyly ORPHA:2786
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies
Pectus excavatum, Hypoplastic distal segments of scapulae, Abnormal rib morphology OMIM:602196
Poland Syndrome
Rib fusion, Hemivertebrae, Short ribs, Sprengel anomaly OMIM:173800
Gm1-Gangliosidosis, Type Iii
Kyphosis, Platyspondyly, Scoliosis, Anterior beaking of lumbar vertebrae OMIM:230650
Craniodiaphyseal Dysplasia
Abnormal rib morphology ORPHA:1513
Masa Syndrome
Kyphosis, Hyperlordosis OMIM:303350
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures
Kyphosis, Lumbar hyperlordosis, Scoliosis OMIM:616756
Hip Dysplasia, Beukes Type
Kyphosis, Scoliosis ORPHA:2114
Intellectual Disability-Developmental Delay-Contractures Syndrome
Kyphosis, Scoliosis ORPHA:3454
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Vertebral fusion, Block vertebrae, Short neck, Missing ribs, Hemivertebrae, Rib fusion, Thin ribs... OMIM:271520
Spondylocostal Dysostosis 4, Autosomal Recessive
Vertebral fusion, Abnormal odontoid process morphology, Block vertebrae, Short neck, Missing ribs... OMIM:613686
Smith-Mccort Dysplasia 1
Barrel-shaped chest, Hypoplastic scapulae, Short neck, Hypoplasia of the odontoid process, Kyphos... OMIM:607326
Klippel-Feil Syndrome 1, Autosomal Dominant
Short neck, Abnormal rib morphology, Scoliosis, Cervical C2/C3 vertebral fusion, Sprengel anomaly... OMIM:118100
Autosomal Recessive Spondylocostal Dysostosis
Rib segmentation abnormalities, Abnormal intervertebral disk morphology, Short neck, Kyphosis, Sh... ORPHA:2311
Hydrocephaly-Tall Stature-Joint Laxity Syndrome
Kyphosis, Shoulder dislocation, Scoliosis ORPHA:2181
Fibrochondrogenesis 2
Cupped ribs, Bell-shaped thorax, Platyspondyly, Short ribs, Thoracic hypoplasia OMIM:614524
Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome
Pectus excavatum, Kyphosis, Cervical ribs ORPHA:77300
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome
Abnormal rib morphology, Hemivertebrae, Abnormal form of the vertebral bodies, Short neck ORPHA:2234
Axial Spondylometaphyseal Dysplasia
Aplasia/Hypoplasia of the vertebrae, Thoracic scoliosis, Aplasia/Hypoplasia of the ribs, Flaring ... ORPHA:168549
Borjeson-Forssman-Lehmann Syndrome
Scheuermann-like vertebral changes, Kyphosis, Scoliosis, Cervical spinal canal stenosis OMIM:301900
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Kyphosis ORPHA:1875
Mitochondrial Myopathy And Sideroblastic Anemia
Kyphosis, Scoliosis ORPHA:2598
Sandhoff Disease
Kyphosis ORPHA:796
Kleefstra Syndrome 2
Kyphosis, Scoliosis OMIM:617768
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Abnormal clavicle morphology, Short neck, Abnormal rib morphology, Platyspondyly, Narrow chest ORPHA:93267
Jeune Syndrome
Abnormal clavicle morphology, Short thorax, Abnormal rib morphology, Abnormal sternum morphology,... ORPHA:474
Cdkl5-Deficiency Disorder
Kyphosis, Scoliosis ORPHA:505652
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome
Kyphosis, Scoliosis ORPHA:2429
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome
Kyphosis, Scoliosis ORPHA:1858
Thin Ribs-Tubular Bones-Dysmorphism Syndrome
Abnormal rib morphology ORPHA:1506
Mosaic Trisomy 14
Abnormal rib morphology, Narrow chest, Short neck ORPHA:1703
Thoracic Outlet Syndrome
Abnormal rib morphology ORPHA:97330
Hall-Riggs Syndrome
Irregular vertebral endplates, Platyspondyly, Kyphosis, Scoliosis OMIM:234250
X-Linked Charcot-Marie-Tooth Disease Type 5
Kyphosis, Scoliosis ORPHA:99014
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Lumbar hyperlordosis, Cupped ribs, Irregular vertebral endplates, Platyspondyly, Scoliosis, Beaki... OMIM:609616
Mucopolysaccharidosis, Type Iva
Ovoid vertebral bodies, Hyperlordosis, Short neck, Hypoplasia of the odontoid process, Kyphosis, ... OMIM:253000
Holt-Oram Syndrome
Abnormal clavicle morphology, Down-sloping shoulders, Pectus excavatum, Kyphosis, Abnormal rib mo... ORPHA:392
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome
Kyphosis, Scoliosis ORPHA:85317
10Q22.3Q23.3 Microduplication Syndrome
Abnormal clavicle morphology, Abnormal rib morphology ORPHA:276422
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Hemivertebrae, Abnormal rib morphology, Abnormal form of the vertebral bodies, Scoliosis, Sprenge... ORPHA:2180
Mcdonough Syndrome
Pectus excavatum, Kyphosis, Scoliosis ORPHA:2471
Myopathy, Centronuclear, 2
Kyphosis, Scapular winging, Scoliosis, Hyperlordosis OMIM:255200
Achondrogenesis Type 1B
Short thorax, Abnormal rib morphology, Narrow chest, Short neck ORPHA:93298
Ck Syndrome
Kyphosis, Scoliosis, Hyperlordosis OMIM:300831
Sialidosis Type 2
Kyphosis, Short thorax, Pectus carinatum ORPHA:87876
Dyggve-Melchior-Clausen Disease
Barrel-shaped chest, Lumbar hyperlordosis, Hypoplastic scapulae, Flaring of lower rib cage, Short... OMIM:223800
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type
Kyphosis, Scoliosis OMIM:300861
O'Donnell-Luria-Rodan Syndrome
Kyphosis OMIM:618512
Mucopolysaccharidosis, Type X
Spatulate ribs, Hyperlordosis, Broad clavicles, Platyspondyly, Posterior scalloping of vertebral ... OMIM:619698
Spondylometaphyseal Dysplasia, Kozlowski Type
Cervical platyspondyly, Lumbar hyperlordosis, Increased intervertebral space, Hypoplasia of the o... ORPHA:93314
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor
Pectus excavatum, Kyphosis, Sacral dimple OMIM:618272
Mucopolysaccharidosis Type 4
Hyperlordosis, Short neck, Kyphosis, Short thorax, Abnormal rib morphology, Spinal canal stenosis... ORPHA:582
Laryngotracheoesophageal Cleft Type 4
Abnormal rib morphology, Abnormal form of the vertebral bodies ORPHA:93941
Spinocerebellar Ataxia, Autosomal Recessive 8
Kyphosis, Scoliosis OMIM:610743
Ruvalcaba Syndrome
Kyphosis, Narrow chest, Scoliosis OMIM:180870
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Sprengel anomaly, Abnormality of the vertebral column, Abnormal rib morphology OMIM:601076
Mitochondrial Complex I Deficiency, Nuclear Type 11
Kyphosis, Scoliosis OMIM:618234
3M Syndrome
Scapular winging, Hyperlordosis, Short neck, Increased vertebral height, Kyphosis, Short thorax, ... ORPHA:2616
Congenital Arthrogryposis With Anterior Horn Cell Disease
Kyphosis, Scoliosis, Short neck OMIM:611890
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies
Kyphosis, Scoliosis, Pectus carinatum OMIM:619797
Mitochondrial Complex I Deficiency, Nuclear Type 15
Kyphosis OMIM:618237
Grant Syndrome
Sprengel anomaly, Abnormality of the glenoid fossa, Abnormal rib morphology, Narrow chest ORPHA:2097
Vertebral Hypersegmentation And Orofacial Anomalies
Pectus excavatum, Scapular winging, Supernumerary ribs, Six lumbar vertebrae OMIM:619122
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3
Short neck, Thin ribs, Irregular vertebral endplates, Platyspondyly, Scoliosis, Narrow vertebral ... OMIM:618395
White Forelock With Malformations
Sprengel anomaly, Spina bifida occulta, Abnormal rib morphology ORPHA:2475
Mesomelic Dysplasia, Kantaputra Type
Vertebral segmentation defect, Abnormal rib morphology ORPHA:1836
Femoral-Facial Syndrome
Abnormal sacrum morphology, Abnormal rib morphology, Rib fusion, Vertebral segmentation defect, S... ORPHA:1988
Diastrophic Dysplasia
Abnormal clavicle morphology, Kyphosis, Abnormal rib morphology, Abnormal form of the vertebral b... ORPHA:628
Lethal Congenital Contracture Syndrome Type 1
Abnormal rib morphology, Abnormal form of the vertebral bodies, Short neck ORPHA:1486
Septopreoptic Holoprosencephaly
Abnormal rib morphology, Abnormal vertebral morphology ORPHA:280195
Spondyloepiphyseal Dysplasia Congenita
Barrel-shaped chest, Lumbar hyperlordosis, Ovoid vertebral bodies, Short neck, Hypoplasia of the ... OMIM:183900
Fibrochondrogenesis
Hypoplastic scapulae, Short neck, Abnormal rib morphology, Abnormal form of the vertebral bodies,... ORPHA:2021
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Kyphosis, Abnormality of the cervical spine, Scoliosis ORPHA:48431
Intellectual Developmental Disorder, Autosomal Dominant 23
Kyphosis, Sacral dimple, Scoliosis, Hyperlordosis OMIM:615761
Hemifacial Atrophy, Progressive
Kyphosis OMIM:141300
Congenital Muscular Dystrophy, Ullrich Type
Kyphosis, Spinal rigidity, Scoliosis, Short neck ORPHA:75840
Zimmermann-Laband Syndrome 3
Kyphosis OMIM:618658
Difference Of Sex Development-Intellectual Disability Syndrome
Short thorax, Kyphosis, Spina bifida occulta, Short neck ORPHA:2983
Bruck Syndrome
Kyphosis, Platyspondyly, Scoliosis ORPHA:2771
Myopathic Ehlers-Danlos Syndrome
Shoulder flexion contracture, Kyphoscoliosis, Hyperlordosis, Pectus excavatum, Kyphosis, Scoliosis ORPHA:536516
Arthrogryposis Multiplex Congenita 3, Myogenic Type
Kyphosis, Kyphoscoliosis, Scoliosis OMIM:618484
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Abnormal rib morphology, Hemivertebrae, Abnormal form of the vertebral bodies, Missing ribs ORPHA:2759
Hypomelanosis Of Ito
Kyphosis, Scoliosis OMIM:300337
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development
Kyphosis, Scoliosis OMIM:618124
Acro-Renal-Mandibular Syndrome
Abnormal clavicle morphology, Hypoplastic scapulae, Short neck, Kyphosis, Hemivertebrae, Thin rib... ORPHA:958
Developmental Malformations-Deafness-Dystonia Syndrome
Kyphosis, Hypoplastic scapulae, Scoliosis ORPHA:79107
Microcephalic Primordial Dwarfism, Montreal Type
Kyphosis, Vertebral segmentation defect, Scoliosis ORPHA:2617
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome
Pectus carinatum, Kyphosis, Abnormal rib morphology, Short neck ORPHA:3082
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Disc-like vertebral bodies, Ovoid vertebral bodies, Short neck, Wafer-thin platyspondyly, Thin ri... OMIM:151210
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Back pain, Scapular winging, Spinal rigidity, Hyperlordosis, Kyphosis, Pectus excavatum, Scoliosi... ORPHA:98855
Sjögren-Larsson Syndrome
Kyphosis, Scoliosis ORPHA:816
Osteogenesis Imperfecta, Type Iii
Kyphosis, Biconcave vertebral bodies, Scoliosis, Thin ribs OMIM:259420
Marfanoid Habitus With Situs Inversus
Kyphosis, Scoliosis, Pectus carinatum OMIM:609008
Thanatophoric Dysplasia
Abnormal sacroiliac joint morphology, Kyphosis, Short thorax, Platyspondyly, Narrow chest ORPHA:2655
Cat-Eye Syndrome
Abnormal rib morphology ORPHA:195
X-Linked Emery-Dreifuss Muscular Dystrophy
Back pain, Scapular winging, Hyperlordosis, Short neck, Kyphosis, Spinal rigidity, Pectus excavat... ORPHA:98863
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Kyphosis, Pectus carinatum ORPHA:500180
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1
Kyphosis, Scoliosis OMIM:130060
Orofaciodigital Syndrome Iii
Pectus excavatum, Kyphosis, Short sternum OMIM:258850
Sialidosis Type 1
Kyphosis, Short thorax, Abnormal form of the vertebral bodies, Pectus carinatum, Scoliosis ORPHA:812
Typical Nemaline Myopathy
Hyperlordosis, Spinal rigidity, Kyphosis, Short neck, Pectus excavatum, Narrow chest, Scoliosis ORPHA:171436
Achondrogenesis, Type Ia
Barrel-shaped chest, Hypoplastic sacrum, Hypoplastic scapulae, Beaded ribs, Short neck, Broad cla... OMIM:200600
Lopes-Maciel-Rodan Syndrome
Kyphosis, Scoliosis OMIM:617435
Spondyloepimetaphyseal Dysplasia, Irapa Type
Platyspondyly, Abnormal rib morphology, Pectus carinatum ORPHA:93351
Spondyloepiphyseal Dysplasia Congenita
Back pain, Barrel-shaped chest, Abnormally ossified vertebrae, Lumbar hyperlordosis, Short neck, ... ORPHA:94068
Cole-Carpenter Syndrome
Kyphosis, Abnormal rib morphology, Scoliosis, Abnormal form of the vertebral bodies ORPHA:2050
Zimmermann-Laband Syndrome 2
Kyphosis, Short neck OMIM:616455
Scapuloperoneal Spinal Muscular Atrophy
Kyphosis, Scapular winging, Scoliosis, Hyperlordosis OMIM:181405
Juberg-Hayward Syndrome
Abnormal rib morphology, Abnormal vertebral morphology, Scoliosis ORPHA:2319
Thanatophoric Dysplasia Type 2
Kyphosis, Platyspondyly, Short thorax, Narrow chest ORPHA:93274
Ruvalcaba Syndrome
Kyphosis, Pectus carinatum, Narrow chest, Scoliosis, Abnormal vertebral epiphysis morphology ORPHA:3121
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Vertebral fusion, Kyphosis, Scoliosis, Hyperlordosis OMIM:606612
Ectodermal Dysplasia-Sensorineural Deafness Syndrome
Kyphosis, Scoliosis ORPHA:1883
Cooper-Jabs Syndrome
Abnormal rib morphology, Scoliosis, Missing ribs ORPHA:1488
Mitochondrial Dna Depletion Syndrome 11
Neuropathic spinal arthropathy, Kyphosis, Spinal rigidity OMIM:615084
Intellectual Developmental Disorder, Autosomal Dominant 26
Kyphosis, Scoliosis OMIM:615834
Baralle-Macken Syndrome
Kyphosis OMIM:619255
Microcephalic Primordial Dwarfism, Toriello Type
Abnormal rib morphology ORPHA:2643
Emery-Dreifuss Muscular Dystrophy
Back pain, Scapular winging, Spinal rigidity, Hyperlordosis, Kyphosis, Pectus excavatum, Scoliosi... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Back pain, Scapular winging, Spinal rigidity, Hyperlordosis, Kyphosis, Pectus excavatum, Scoliosi... ORPHA:98853
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
Kyphosis OMIM:618138
Weismann-Netter Syndrome
Kyphosis, Scoliosis, Abnormal form of the vertebral bodies ORPHA:3344
Gm1-Gangliosidosis, Type I
Thickened ribs, Short neck, Kyphosis, Hypoplastic vertebral bodies, Scoliosis, Beaking of vertebr... OMIM:230500
Spastic Paraplegia 46, Autosomal Recessive
Kyphosis, Scoliosis OMIM:614409
Mucopolysaccharidosis Type 6
Kyphosis, Broad ribs, Ovoid vertebral bodies, Short neck ORPHA:583
Pseudoachondroplasia
Lumbar hyperlordosis, Spatulate ribs, Hypoplasia of the odontoid process, Kyphosis, Platyspondyly... OMIM:177170
Autism Spectrum Disorder Due To Auts2 Deficiency
Kyphosis, Scoliosis ORPHA:352490
Stickler Syndrome, Type I
Pectus excavatum, Kyphosis, Platyspondyly, Morbus Scheuermann, Scoliosis, Beaking of vertebral bo... OMIM:108300
Mucopolysaccharidosis, Type Ivb
Ovoid vertebral bodies, Hyperlordosis, Hypoplasia of the odontoid process, Kyphosis, Platyspondyl... OMIM:253010
Arthrogryposis, Distal, Type 5
Pectus excavatum, Kyphosis, Scoliosis OMIM:108145
Rhizomelic Syndrome, Urbach Type
Kyphosis, Abnormal form of the vertebral bodies, Short neck ORPHA:3098
Myofibrillar Myopathy 10
Kyphosis OMIM:619040
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Kyphosis, Hyperlordosis ORPHA:3085
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Vertebral fusion, Kyphosis, Scoliosis, Hyperlordosis OMIM:607155
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome
Vertebral fusion, Kyphosis, Hemivertebrae, Abnormal form of the vertebral bodies, Hypoplastic ver... ORPHA:2916
Cole-Carpenter Syndrome 2
Pectus excavatum, Kyphosis, Platyspondyly, Thin ribs OMIM:616294
Melnick-Needles Syndrome
Short thorax, Abnormal rib morphology, Narrow chest, Scoliosis, Short clavicles, Anisospondyly ORPHA:2484
Frank-Ter Haar Syndrome
Kyphosis, Beaking of vertebral bodies, Scoliosis ORPHA:137834
Achondroplasia
Lumbar hyperlordosis, Kyphosis, Spinal canal stenosis, Thoracolumbar kyphosis, Thoracic hypoplasi... ORPHA:15
Wieacker-Wolff Syndrome
Hyperlordosis, Short neck, Kyphosis, Narrow chest, Scoliosis OMIM:314580
Alg1-Cdg
Kyphosis, Scoliosis ORPHA:79327
Hypophosphatasia
Abnormal rib morphology, Narrow chest ORPHA:436
Crisponi Syndrome
Kyphosis, Scoliosis ORPHA:1545
Subaortic Stenosis-Short Stature Syndrome
Kyphosis, Scoliosis, Short neck ORPHA:3191
Prune Belly Syndrome
Pectus excavatum, Vertebral segmentation defect, Abnormal rib morphology, Scoliosis ORPHA:2970
Axial Mesodermal Dysplasia Spectrum
Short neck, Missing ribs, Abnormal rib morphology, Abnormal form of the vertebral bodies, Vertebr... ORPHA:1834
Clark-Baraitser syndrome
Kyphosis, Scoliosis OMIM:300602
Alpha-Mannosidosis
Kyphosis, Scoliosis, Short neck ORPHA:61
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome
Pectus carinatum, Abnormal rib morphology, Hyperlordosis ORPHA:3068
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome
Kyphosis, Scoliosis ORPHA:464282
Mucopolysaccharidosis, Type Vii
Anterior beaking of lower thoracic vertebrae, Spatulate ribs, Short neck, Pectus excavatum, Hypop... OMIM:253220
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Neuropathic spinal arthropathy, Kyphosis, Spinal rigidity ORPHA:352447
Renpenning Syndrome
Pectus excavatum, Sprengel anomaly, Abnormal rib morphology ORPHA:3242
Osteogenesis Imperfecta, Type Viii
Barrel-shaped chest, Kyphosis, Thin ribs, Platyspondyly, Scoliosis, Vertebral compression fracture OMIM:610915
Fountain Syndrome
Pectus excavatum, Kyphosis, Abnormal form of the vertebral bodies, Scoliosis, Spina bifida occulta ORPHA:3219
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Abnormal rib morphology ORPHA:2772
4Q21 Microdeletion Syndrome
Kyphosis, Scoliosis, Short neck ORPHA:238750
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Kyphosis, Scoliosis OMIM:609541
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Broad ribs, Abnormal sternum morphology, Abnormal rib morphology, Short ribs ORPHA:2519
Harrod Syndrome
Abnormal shoulder morphology, Kyphosis, Scoliosis ORPHA:2115
Chromosome 3Q13.31 Deletion Syndrome
Kyphosis OMIM:615433
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome
Pectus excavatum, Kyphosis, Asymmetry of the thorax, Scoliosis ORPHA:1969
Flynn-Aird Syndrome
Kyphosis, Scoliosis ORPHA:2047
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type
Kyphoscoliosis, Kyphosis, Abnormal curvature of the vertebral column, Platyspondyly, Scoliosis, T... ORPHA:93360
Spondyloperipheral Dysplasia
Barrel-shaped chest, Ovoid vertebral bodies, Short neck, Kyphosis, Pectus carinatum, Irregular ve... OMIM:271700
Trisomy 9P
Kyphosis, Sacral dimple, Scoliosis, Short neck ORPHA:236
Wieacker-Wolff Syndrome, Female-Restricted
Kyphosis, Narrow chest, Scoliosis, Short neck OMIM:301041
Progressive Non-Infectious Anterior Vertebral Fusion
Abnormal intervertebral disk morphology, Spinal rigidity, Kyphosis, Hemivertebrae, Abnormality of... ORPHA:2062
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Abnormally ossified vertebrae, Abnormal rib morphology ORPHA:3035
Uruguay Faciocardiomusculoskeletal Syndrome
Kyphosis, Kyphoscoliosis, Scoliosis OMIM:300280
Arthrogryposis, Distal, Type 4
Kyphosis, Lumbar scoliosis, Scoliosis OMIM:609128
Trisomy 13
Kyphosis, Abnormal rib morphology, Narrow chest, Scoliosis ORPHA:3378
Desbuquois Dysplasia 1
Hyperlordosis, Short neck, Kyphosis, Platyspondyly, Narrow chest, Scoliosis OMIM:251450
Microphthalmia, Lenz Type
Abnormal clavicle morphology, Hyperlordosis, Kyphosis, Abnormal shoulder morphology, Long thorax,... ORPHA:568
Familial Osteodysplasia, Anderson Type
Aplastic clavicle, Missing ribs, Kyphosis, Abnormal rib morphology, Abnormal form of the vertebra... ORPHA:2769
Phaver Syndrome
Abnormal rib morphology, Butterfly vertebrae, Abnormal form of the vertebral bodies ORPHA:2876
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Sclerotic vertebral body, Kyphosis, Pectus carinatum, Bell-shaped thorax, Platyspondyly OMIM:618476
Dystonia 1, Torsion, Autosomal Dominant
Kyphosis, Scoliosis, Hyperlordosis OMIM:128100
Atypical Rett Syndrome
Kyphosis, Scoliosis ORPHA:3095
Campomelic Dysplasia
Poorly ossified cervical vertebrae, 11 pairs of ribs, Small abnormally formed scapulae, Short nec... ORPHA:140
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly
Ovoid vertebral bodies, Thoracolumbar scoliosis, Hyperlordosis, Thoracic platyspondyly, Kyphosis,... OMIM:618019
Lateral Meningocele Syndrome
Hyperlordosis, Short neck, Kyphosis, Pectus excavatum, Abnormal form of the vertebral bodies, Sco... ORPHA:2789
Craniosynostosis, Herrmann-Opitz Type
Abnormal rib morphology ORPHA:2145
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Kyphosis, Sacral dimple, Spina bifida occulta, Scoliosis OMIM:618291
Congenital Myopathy 22A, Classic
Scapular winging, Thoracic scoliosis, Spinal rigidity, Pectus excavatum, Kyphosis, Scoliosis OMIM:620351
Dysostosis, Stanescu Type
Hyperlordosis, Pectus excavatum, Kyphosis, Short neck, Scoliosis ORPHA:1798
Mosaic Trisomy 20
Vertebral fusion, Down-sloping shoulders, Kyphosis, Spinal canal stenosis, Fused cervical vertebr... ORPHA:1724
Osteogenesis Imperfecta, Type Iv
Kyphosis, Biconcave flattened vertebrae, Scoliosis OMIM:166220
Ehlers-Danlos Syndrome, Arthrochalasia Type, 2
Kyphosis, Scoliosis, Hyperlordosis OMIM:617821
Poland Syndrome
Aplasia/Hypoplasia of the sternum, Short neck, Missing ribs, Kyphosis, Hemivertebrae, Abnormal ri... ORPHA:2911
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Kyphosis, Thoracic scoliosis OMIM:603387
Urban-Rogers-Meyer Syndrome
Kyphosis, Short neck ORPHA:3409
Congenital Disorder Of Glycosylation, Type Il
Kyphosis, Short neck OMIM:608776
Thanatophoric Dysplasia Type 1
Abnormal sacroiliac joint morphology, Platyspondyly, Kyphosis, Narrow chest ORPHA:1860
Pseudoxanthoma Elasticum, Forme Fruste
Kyphosis, Abnormal sternum morphology, Scoliosis OMIM:177850
Myasthenic Syndrome, Congenital, 20, Presynaptic
Kyphosis, Scoliosis OMIM:617143
Srd5A3-Cdg
Kyphosis, Abnormal sacrum morphology ORPHA:324737
Schaaf-Yang Syndrome
Kyphosis, Scoliosis OMIM:615547
Marinesco-Sjogren Syndrome
Kyphosis, Scoliosis OMIM:248800
15Q14 Microdeletion Syndrome
Kyphosis, Scoliosis ORPHA:261190
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Pectus excavatum, Kyphosis, Scapular winging, Scoliosis OMIM:617061
3C Syndrome
Missing ribs, Short neck, Kyphosis, Hemivertebrae, Scoliosis ORPHA:7
Holzgreve Syndrome
Abnormally ossified vertebrae, Abnormal rib morphology ORPHA:2167
Osteoporosis-Pseudoglioma Syndrome
Barrel-shaped chest, Kyphoscoliosis, Kyphosis, Platyspondyly, Scoliosis, Biconcave vertebral bodi... OMIM:259770
Spondyloarthropathy, Susceptibility To, 1
Back pain, Kyphosis, Sacroiliac arthritis OMIM:106300
Cleidocranial Dysplasia
Hypoplastic scapulae, Down-sloping shoulders, Abnormal sacrum morphology, Abnormal rib morphology... ORPHA:1452
Campomelia, Cumming Type
Abnormal thorax morphology, Abnormally ossified vertebrae, Abnormal rib morphology ORPHA:1318
Marden-Walker Syndrome
Kyphosis, Abnormal sternum morphology, Scoliosis, Short neck OMIM:248700
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Vertebral segmentation defect, Abnormal rib morphology ORPHA:1120
Ullrich Congenital Muscular Dystrophy 1
Kyphosis, Scoliosis, Spinal rigidity OMIM:254090
Jaberi-Elahi Syndrome
Kyphosis, Scoliosis, Pectus carinatum OMIM:617988
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Kyphosis, Scoliosis OMIM:615381
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Kyphosis OMIM:300354
Waardenburg Syndrome, Type 1
Sprengel anomaly, Supernumerary ribs, Supernumerary vertebrae OMIM:193500
Distal 16P11.2 Microdeletion Syndrome
Kyphosis ORPHA:261222
Alagille Syndrome
Abnormal rib morphology, Abnormal form of the vertebral bodies, Vertebral segmentation defect, Sp... ORPHA:52
Cenani-Lenz Syndrome
Abnormal rib morphology, Scoliosis, Abnormal form of the vertebral bodies ORPHA:3258
Pelizaeus-Merzbacher Disease
Kyphosis, Scoliosis ORPHA:702
Noonan Syndrome 14
Scapular winging, Short neck, Pectus excavatum, Kyphosis, Pectus carinatum OMIM:619745
Foxg1 Syndrome Due To 14Q12 Microdeletion
Kyphosis, Scoliosis ORPHA:261144
Cleidocranial Dysplasia 1
Hypoplastic scapulae, Aplastic clavicle, Kyphosis, Abnormal facility in opposing the shoulders, C... OMIM:119600
Pycnodysostosis
Abnormal clavicle morphology, Hyperlordosis, Kyphosis, Spondylolysis, Scoliosis, Narrow chest, Sp... ORPHA:763
Lateral Meningocele Syndrome
Vertebral fusion, Short neck, Pectus excavatum, Kyphosis, Scoliosis, Biconcave vertebral bodies OMIM:130720
Cdags Syndrome
Kyphosis, Short ribs, Short clavicles OMIM:603116
Cowden Syndrome 5
Pectus excavatum, Kyphosis, Scoliosis OMIM:615108
Shashi-Pena Syndrome
Cervical C2/C3 vertebral fusion, Kyphosis, Scoliosis OMIM:617190
Koolen-De Vries Syndrome
Vertebral fusion, Pectus excavatum, Kyphosis, Vertebral segmentation defect, Scoliosis ORPHA:96169
Mosaic Trisomy 8
Short neck, Abnormal rib morphology, Vertebral segmentation defect, Narrow chest, Scoliosis ORPHA:96061
Cartilage-Hair Hypoplasia
Abnormally ossified vertebrae, Biconvex vertebral bodies, Sacral dimple, Flaring of lower rib cag... ORPHA:175
Pyknoachondrogenesis
Short thorax, Poorly ossified vertebrae, Enlarged thorax, Short ribs, Unossified sacrum, Horizont... ORPHA:3003
Tetraamelia-Multiple Malformations Syndrome
Abnormally ossified vertebrae, Abnormal rib morphology, Missing ribs ORPHA:3301
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Kyphosis, Platyspondyly, Lumbar hyperlordosis, Narrow chest OMIM:616482
15Q24 Microdeletion Syndrome
Kyphosis, Scoliosis ORPHA:94065
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities
Kyphosis, Thoracolumbar scoliosis, Scoliosis, Hyperlordosis OMIM:618443
Multiple Pterygium-Malignant Hyperthermia Syndrome
Pectus excavatum, Kyphosis, Abnormal rib morphology, Scoliosis ORPHA:2215
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome
Kyphosis, Vertebral segmentation defect, Scoliosis ORPHA:1005
3Q29 Microdeletion Syndrome
Pectus carinatum, Pectus excavatum, Six lumbar vertebrae ORPHA:65286
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Sacral dimple, Lumbar hyperlordosis, Increased intervertebral space, Hypoplasia of the odontoid p... ORPHA:508533
Cono-Spondylar Dysplasia
Kyphosis, Scoliosis, Short neck ORPHA:420794
X-Linked Intellectual Disability, Cabezas Type
Kyphosis, Down-sloping shoulders, Scoliosis, Short neck ORPHA:85293
Cowden Syndrome 6
Pectus excavatum, Kyphosis, Scoliosis OMIM:615109
Multiple Pterygium Syndrome, Escobar Variant
Long clavicles, Thoracolumbar scoliosis, Down-sloping shoulders, Short neck, Kyphosis, Rib fusion... OMIM:265000
Basel-Vanagaite-Smirin-Yosef Syndrome
Kyphosis, Scoliosis, Pectus carinatum OMIM:616449
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome
Pectus excavatum, Kyphosis, Abnormal form of the vertebral bodies, Irregular vertebral endplates,... ORPHA:3042
Pelger-Huet Anomaly
Kyphosis OMIM:169400
Spondylometaphyseal Dysplasia, Sedaghatian Type
Platyspondyly, Abnormal rib morphology, Narrow chest, Abnormal scapula morphology ORPHA:93317
Coffin-Lowry Syndrome
Pectus excavatum, Kyphosis, Abnormal form of the vertebral bodies, Pectus carinatum, Scoliosis ORPHA:192
Shprintzen Omphalocele Syndrome
Kyphosis, Lumbar hyperlordosis, Narrow chest, Scoliosis OMIM:182210
Postaxial Acrofacial Dysostosis
Pectus excavatum, Supernumerary vertebrae OMIM:263750
Occipital Horn Syndrome
Broad clavicles, Pectus excavatum, Kyphosis, Pectus carinatum, Platyspondyly, Narrow chest, Short... OMIM:304150
Rett Syndrome
Kyphosis, Scoliosis OMIM:312750
Alkaptonuria
Vertebral fusion, Kyphosis, Low back pain, Intervertebral disc degeneration OMIM:203500
19P13.12 Microdeletion Syndrome
Kyphosis, Scoliosis, Short neck ORPHA:254346
X-Linked Intellectual Disability Due To Gria3 Mutations
Kyphosis, Scoliosis ORPHA:364028
Pontocerebellar Hypoplasia, Type 17
Kyphosis OMIM:619909
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome
Kyphosis, Scoliosis ORPHA:88628
Aspergillosis
Abnormality of the vertebral column, Abnormal rib morphology ORPHA:1163
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Kyphosis, Scoliosis ORPHA:404440
Radio-Renal Syndrome
Abnormal rib morphology, Abnormal form of the vertebral bodies, Short neck ORPHA:3015
Gm1 Gangliosidosis
Hyperlordosis, Kyphosis, Abnormal form of the vertebral bodies, Platyspondyly, Scoliosis ORPHA:354
Pituitary Adenoma 4, Acth-Secreting
Kyphosis, Vertebral compression fracture, Biconcave vertebral bodies OMIM:219090
Multiple Endocrine Neoplasia, Type Iib
Pectus excavatum, Kyphosis, Scoliosis, Hyperlordosis OMIM:162300
Ectodermal Dysplasia, Sensorineural Hearing Loss, And Distinctive Facial Features
Pectus excavatum, Kyphosis OMIM:609944
Vacterl/Vater Association
Vertebral segmentation defect, Abnormal intervertebral disk morphology, Abnormal rib morphology, ... ORPHA:887
Distal Triplication 15Q
Kyphosis, Abnormal sternum morphology, Scoliosis ORPHA:314588
Hurler Syndrome
Abnormal clavicle morphology, Short neck, Abnormal rib morphology, Spinal canal stenosis, Scolios... ORPHA:93473
Trisomy 20P
Short neck, Kyphosis, Abnormal form of the vertebral bodies, Vertebral segmentation defect, Platy... ORPHA:261318
Hurler-Scheie Syndrome
Kyphosis, Scoliosis OMIM:607015
Emanuel Syndrome
Kyphosis, Sacral dimple, Scoliosis OMIM:609029
Marfanoid-Progeroid-Lipodystrophy Syndrome
Pectus excavatum, Kyphosis, Scapular winging, Narrow chest OMIM:616914
Autosomal Recessive Ataxia, Beauce Type
Kyphosis, Scoliosis ORPHA:88644
Cockayne Syndrome Type 2
Kyphosis, Scoliosis ORPHA:90322
Hurler Syndrome
Short neck, Hypoplasia of the odontoid process, Kyphosis, Short clavicles, Biconcave vertebral bo... OMIM:607014
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Short neck, Kyphosis, Hemivertebrae, Scoliosis, Sprengel anomaly OMIM:618223
Oculocerebrocutaneous Syndrome
Abnormal rib morphology, Missing ribs ORPHA:1647
Schwartz-Jampel Syndrome
Abnormally ossified vertebrae, Shoulder flexion contracture, Short neck, Hyperlordosis, Kyphosis,... ORPHA:800
Autosomal Dominant Popliteal Pterygium Syndrome
Abnormal rib morphology, Scoliosis ORPHA:1300
Monosomy 9Q22.3
Short neck, Pectus excavatum, Kyphosis, Abnormal rib morphology, Abnormality of the vertebral column ORPHA:77301
Genitopalatocardiac Syndrome
Kyphosis, Scoliosis ORPHA:2075
2P15P16.1 Microdeletion Syndrome
Enlarged thorax, Kyphosis, Pectus excavatum, Scoliosis ORPHA:261349
Congenital Heart Defects And Skeletal Malformations Syndrome
Pectus excavatum, Kyphosis, Scoliosis OMIM:617602
Fucosidosis
Kyphosis, Anterior beaking of lumbar vertebrae ORPHA:349
Postencephalitic Parkinsonism
Kyphosis, Camptocormia ORPHA:97349
Cerebrocostomandibular Syndrome
Bell-shaped thorax, Kyphosis, Posterior rib gap ORPHA:1393
Koolen-De Vries Syndrome
Vertebral fusion, Sacral dimple, Pectus excavatum, Kyphosis, Scoliosis, Spondylolisthesis OMIM:610443
Antley-Bixler Syndrome
Abnormal rib morphology, Narrow chest ORPHA:83
Paget Disease Of Bone 5, Juvenile-Onset
Barrel-shaped chest, Kyphosis OMIM:239000
Cowden Syndrome 1
Pectus excavatum, Kyphosis, Scoliosis OMIM:158350
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Pectus excavatum, Kyphosis, Scoliosis ORPHA:476126
Brown-Vialetto-Van Laere Syndrome 1
Kyphosis, Scoliosis OMIM:211530
Intellectual Developmental Disorder, X-Linked, Syndromic 33
Sacral dimple, Short neck, Pectus excavatum, Kyphosis, Prominent protruding coccyx, Prominent coc... OMIM:300966
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Barrel-shaped chest, Lumbar hyperlordosis, Kyphoscoliosis, Short neck, Kyphosis, Shield chest, Ir... OMIM:143095
Trisomy 1Q
Short thorax, Abnormal rib morphology ORPHA:261344
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4
Kyphosis, Scoliosis OMIM:619951
Acth-Independent Macronodular Adrenal Hyperplasia
Kyphosis OMIM:219080
Pigmented Nodular Adrenocortical Disease, Primary, 2
Kyphosis OMIM:610475
Megalocornea-Intellectual Disability Syndrome
Kyphosis, Scoliosis ORPHA:2479
Chromosome Xq26.3 Duplication Syndrome
Kyphosis OMIM:300942
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome
Kyphosis, Short thorax, Aplastic clavicle, Abnormal clavicle morphology ORPHA:85199
Classical-Like Ehlers-Danlos Syndrome Type 2
Thoracic scoliosis, Sacral dimple, Kyphoscoliosis, Pectus excavatum, Kyphosis, Shoulder dislocation ORPHA:536532
Short Stature, Impaired Intellectual Development, Microcephaly, Hypotonia, And Ocular Anomalies
Kyphosis, Scoliosis OMIM:619557
Spondyloenchondrodysplasia
Kyphosis, Platyspondyly, Pectus carinatum ORPHA:1855
Micro Syndrome
Kyphosis, Scoliosis ORPHA:2510
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities
Kyphosis, Scoliosis OMIM:618493
Wolf-Hirschhorn Syndrome
Rib segmentation abnormalities, Sacral dimple, Kyphosis, Abnormal thorax morphology, Rib fusion, ... ORPHA:280
Classic Homocystinuria
Pectus excavatum, Kyphosis, Scoliosis, Pectus carinatum ORPHA:394
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism
Kyphosis OMIM:619244
Marshall-Smith Syndrome
Thoracic scoliosis, Large sternal ossification centers, Kyphoscoliosis, Pectus excavatum, Hypopla... OMIM:602535
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia
Kyphosis, Scoliosis OMIM:619718
Fibrous Dysplasia Of Bone
Abnormal clavicle morphology, Abnormal rib morphology, Abnormal lumbar spine morphology, Scoliosi... ORPHA:249
Frank-Ter Haar Syndrome
Anterior concavity of thoracic vertebrae, Kyphoscoliosis, Pectus excavatum, Kyphosis, Prominent c... OMIM:249420
Cohen Syndrome
Pectus excavatum, Kyphosis, Scoliosis ORPHA:193
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Kyphosis, Kyphoscoliosis, Hemivertebrae, Scoliosis OMIM:301040
Autosomal Recessive Robinow Syndrome
Sacral dimple, Short neck, Pectus excavatum, Kyphosis, Rib fusion, Pectus carinatum, Vertebral se... ORPHA:1507
Weaver Syndrome
Kyphosis, Short ribs, Scoliosis OMIM:277590
16Q24.3 Microdeletion Syndrome
Kyphosis, Scoliosis ORPHA:261250
Osteogenesis Imperfecta
Multiple rib fractures, Cervical kyphosis, Pectus excavatum, Kyphosis, Vertebral compression frac... ORPHA:666
Spondyloepimetaphyseal Dysplasia, X-Linked
Lumbar hyperlordosis, Hypoplasia of the odontoid process, Kyphosis, Anterior wedging of T12, Pect... OMIM:300106
Alstrom Syndrome
Kyphosis, Scoliosis OMIM:203800
Otopalatodigital Syndrome Type 2
Abnormal vertebral segmentation and fusion, Abnormal rib morphology, Narrow chest, Scoliosis ORPHA:90652
Mgat2-Cdg
Pectus excavatum, Kyphosis, Scoliosis ORPHA:79329
Basel-Vanagaite-Smirin-Yosef Syndrome
Kyphosis, Scoliosis, Pectus carinatum ORPHA:464738
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Kyphosis, Pectus carinatum OMIM:617527
Gaucher Disease Type 1
Kyphosis, Vertebral compression fracture ORPHA:77259
Plaa-Associated Neurodevelopmental Disorder
Kyphosis, Pectus carinatum ORPHA:521426
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion
Kyphosis, Scoliosis ORPHA:500055
Pigmented Nodular Adrenocortical Disease, Primary, 1
Kyphosis OMIM:610489
Rett Syndrome, Congenital Variant
Kyphosis, Scoliosis OMIM:613454
Mucopolysaccharidosis, Type Ii
Kyphosis, Short neck OMIM:309900
2Q31.1 Microdeletion Syndrome
Kyphosis, Vertebral segmentation defect, Scoliosis, Short neck ORPHA:251014
Marden-Walker Syndrome
Pectus excavatum, Kyphosis, Abnormal form of the vertebral bodies, Pectus carinatum, Scoliosis ORPHA:2461
Alexander Disease
Hyperlordosis, Kyphosis, Scoliosis, Short neck ORPHA:58
Occipital Horn Syndrome
Down-sloping shoulders, Aplastic clavicle, Pectus excavatum, Kyphosis, Pectus carinatum, Platyspo... ORPHA:198
Camptodactyly Syndrome, Guadalajara Type 3
Spina bifida occulta, Abnormal rib morphology, Short neck ORPHA:488434
Cardiofacioneurodevelopmental Syndrome
Kyphosis OMIM:619123
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome
Kyphosis, Asymmetry of the thorax, Lumbar hyperlordosis, Kyphoscoliosis ORPHA:457359
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Pectus excavatum, Kyphosis, Abnormality of the cervical spine, Scoliosis ORPHA:464311
X-Linked Intellectual Disability, Snyder Type
Pectus excavatum, Kyphosis, Kyphoscoliosis, Pectus carinatum ORPHA:3063
Robinow Syndrome, Autosomal Dominant 3
Kyphosis, Sacral dimple, Scoliosis, Short neck OMIM:616894
Hajdu-Cheney Syndrome
Short neck, Hypoplastic 5th lumbar vertebrae, Kyphosis, Pectus carinatum, Scoliosis, Biconcave ve... ORPHA:955
Neurofacioskeletal Syndrome With Or Without Renal Agenesis
Pectus excavatum, Kyphosis, Scoliosis, Short neck OMIM:619194
Intellectual Developmental Disorder, Autosomal Dominant 57
Kyphosis, Scoliosis OMIM:618050
Dyrk1A-Related Intellectual Disability Syndrome
Pectus excavatum, Kyphosis, Abnormality of the cervical spine, Scoliosis ORPHA:464306
Dextrocardia
Abnormal rib morphology ORPHA:1666
Magel2-Related Prader-Willi-Like Syndrome
Kyphosis, Scoliosis ORPHA:398069
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation
Kyphosis, Scoliosis, Hyperlordosis OMIM:617011
Zttk Syndrome
Kyphosis, Rib fusion, Hemivertebrae, Cervical ribs, Scoliosis OMIM:617140
Monosomy 9P
Abnormality of the vertebral column, Abnormal rib morphology, Scoliosis, Short neck ORPHA:261112
Congenital Disorder Of Glycosylation, Type Ia
Kyphosis OMIM:212065
Mucopolysaccharidosis Type 3
Abnormal clavicle morphology, Abnormal rib morphology, Scoliosis, Abnormal form of the vertebral ... ORPHA:581
Koolen-De Vries Syndrome Due To A Point Mutation
Sacral dimple, Hyperlordosis, Pectus excavatum, Kyphosis, Pectus carinatum, Scoliosis, Spondyloli... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Sacral dimple, Hyperlordosis, Pectus excavatum, Kyphosis, Pectus carinatum, Scoliosis, Spondyloli... ORPHA:363958
Prader-Willi Syndrome
Kyphosis, Scoliosis OMIM:176270
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia
Kyphosis, Scoliosis OMIM:619005
Atelis Syndrome 2
Kyphosis, Sacral dimple OMIM:620185
Mucolipidosis Type Ii
Kyphosis, Narrow chest, Restricted chest movement ORPHA:576
Myhre Syndrome
Platyspondyly, Abnormal rib morphology ORPHA:2588
Ramon Syndrome
Kyphosis, Scoliosis OMIM:266270
Triosephosphate Isomerase Deficiency
Kyphosis OMIM:615512
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Hypoplastic scapulae, Abnormal rib morphology, Narrow chest, Scoliosis, Abnormal vertebral morpho... ORPHA:95699
Gastrointestinal Defects And Immunodeficiency Syndrome 2
Kyphosis OMIM:619708
Coffin-Lowry Syndrome
Pectus excavatum, Kyphosis, Pectus carinatum, Lumbar kyphosis, Scoliosis, Bifid sternum OMIM:303600
Simpson-Golabi-Behmel Syndrome
Vertebral fusion, Short neck, Pectus excavatum, Abnormal rib morphology, Vertebral segmentation d... ORPHA:373
Smith-Lemli-Opitz Syndrome
Short neck, Kyphosis, Abnormal rib morphology, Abnormal form of the vertebral bodies, Scoliosis ORPHA:818
Wolf-Hirschhorn Syndrome
Rib segmentation abnormalities, Vertebral fusion, Sacral dimple, Kyphosis, Rib fusion, Abnormal f... OMIM:194190
Marfan Syndrome
Pectus excavatum, Kyphosis, Pectus carinatum, Scoliosis, Spondylolisthesis ORPHA:558
Lymphedema-Distichiasis Syndrome
Kyphosis OMIM:153400
Aspartylglucosaminuria
Kyphosis, Platyspondyly, Spondylolysis, Scoliosis, Beaking of vertebral bodies, Spondylolisthesis OMIM:208400
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction
Kyphosis, Scoliosis OMIM:619482
Stickler Syndrome
Kyphosis, Spinal canal stenosis, Abnormal form of the vertebral bodies, Pectus carinatum, Platysp... ORPHA:828
Ulbright-Hodes Syndrome
Short neck, Abnormal rib morphology, Ovoid thoracolumbar vertebrae, Thin ribs, Short sternum, Sho... ORPHA:3404
1P36 Deletion Syndrome
11 pairs of ribs, Kyphosis, Rib fusion, Spinal canal stenosis, Scoliosis, Bifid ribs ORPHA:1606
Lenz-Majewski Hyperostotic Dwarfism
Kyphosis, Aplastic clavicle, Scoliosis ORPHA:2658
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Kyphosis, Lumbar hyperlordosis ORPHA:2232
Trisomy 18
Abnormal rib morphology ORPHA:3380
Cowden Syndrome
Pectus excavatum, Kyphosis, Scoliosis ORPHA:201
Oculocerebrorenal Syndrome Of Lowe
Kyphosis, Platyspondyly, Abnormal rib morphology, Scoliosis ORPHA:534
Camurati-Engelmann Disease
Kyphosis, Abnormality of the vertebral column, Scoliosis, Hyperlordosis ORPHA:1328
Autosomal Recessive Spastic Paraplegia Type 35
Kyphosis ORPHA:171629
Vater/Vacterl Association
Abnormal rib morphology, Abnormal sternum morphology, Abnormal vertebral morphology, Scoliosis OMIM:192350
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Pectus excavatum, Kyphosis, Sacral dimple, Scoliosis ORPHA:268261
Simpson-Golabi-Behmel Syndrome, Type 1
Pectus excavatum, Pectus carinatum, Vertebral segmentation defect, Short sternum, Cervical ribs, ... OMIM:312870
Hereditary Acrokeratotic Poikiloderma
Abnormal rib morphology ORPHA:2907
Alagille Syndrome 1
Abnormal rib morphology, Hemivertebrae, Butterfly vertebral arch OMIM:118450
Pagod Syndrome
Abnormal clavicle morphology, Abnormal rib morphology ORPHA:991
Turner Syndrome Due To Structural X Chromosome Anomalies
Short neck, Pectus excavatum, Kyphosis, Shield chest, Enlarged thorax, Short sternum, Scoliosis ORPHA:99413
Turner Syndrome
Short neck, Pectus excavatum, Kyphosis, Shield chest, Enlarged thorax, Short sternum, Scoliosis ORPHA:881
Mosaic Monosomy X
Short neck, Pectus excavatum, Kyphosis, Shield chest, Enlarged thorax, Short sternum, Scoliosis ORPHA:99228
Monosomy X
Short neck, Pectus excavatum, Kyphosis, Shield chest, Enlarged thorax, Short sternum, Scoliosis ORPHA:99226
Mend Syndrome
Kyphosis, Sacral dimple ORPHA:401973
Mend Syndrome
Kyphosis, Sacral dimple OMIM:300960
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Kyphosis, Kyphoscoliosis, Scoliosis OMIM:300967
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Back pain, Kyphosis, Scoliosis, Abnormal curvature of the vertebral column OMIM:619475
Ear-Patella-Short Stature Syndrome
Abnormal rib morphology, Aplastic clavicle ORPHA:2554
Cockayne Syndrome Type 3
Kyphosis, Scoliosis ORPHA:90324
Wrinkly Skin Syndrome
Pectus excavatum, Kyphosis, Scapular winging, Scoliosis OMIM:278250
Autosomal Recessive Malignant Osteopetrosis
Abnormal rib morphology, Narrow chest ORPHA:667
Charge Syndrome
Abnormal rib morphology, Hemivertebrae, Scoliosis ORPHA:138
Cockayne Syndrome B
Kyphosis OMIM:133540
Cockayne Syndrome A
Kyphosis OMIM:216400
Coffin-Siris Syndrome 1
Sacral dimple, Kyphosis, Short sternum, Scoliosis, Spina bifida occulta OMIM:135900
Cockayne Syndrome
Kyphosis, Scoliosis ORPHA:191
Williams Syndrome
Sacral dimple, Down-sloping shoulders, Hyperlordosis, Pectus excavatum, Kyphosis, Abnormal form o... ORPHA:904
Lowe Oculocerebrorenal Syndrome
Kyphosis, Platyspondyly, Scoliosis OMIM:309000
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Kyphosis, Platyspondyly, Abnormality of the vertebral column, Abnormal vertebral morphology ORPHA:2273
Proteus Syndrome
Kyphosis, Asymmetry of the thorax, Scoliosis, Abnormal form of the vertebral bodies ORPHA:744
Kindler Epidermolysis Bullosa
Abnormal rib morphology ORPHA:2908
Neurofibromatosis Type 1
Kyphosis, Scoliosis ORPHA:636
Somatomammotropinoma
Kyphosis, Spinal canal stenosis ORPHA:314769
Acromegaly
Kyphosis, Spinal canal stenosis ORPHA:963
17Q11 Microdeletion Syndrome
Kyphosis, Abnormality of the vertebral column, Beaking of vertebral bodies T12-L3, Scoliosis ORPHA:97685
Primrose Syndrome
Pectus excavatum, Kyphosis, Irregular vertebral endplates, Posterior scalloping of vertebral bodi... OMIM:259050
Viss Syndrome
Pectus excavatum, Kyphosis, Pectus carinatum, Scoliosis, Butterfly vertebrae OMIM:619472
Charge Syndrome
Abnormal rib morphology, Hemivertebrae, Down-sloping shoulders, Scoliosis OMIM:214800
Sotos Syndrome
Sacrococcygeal teratoma, Pectus excavatum, Kyphosis, Scoliosis, Abnormal vertebral morphology ORPHA:821
Yunis-Varon Syndrome
Absent sternal ossification, Hypoplastic scapulae, Down-sloping shoulders, Anterior concavity of ... OMIM:216340
Townes-Brocks Syndrome
Abnormal rib morphology, Abnormal vertebral morphology ORPHA:857
Branchiooculofacial Syndrome
Hyperlordosis, Kyphosis, Short neck OMIM:113620
Alström Syndrome
Kyphosis, Thoracic scoliosis, Lumbar scoliosis ORPHA:64

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 Vrtn

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 Vrtn.

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

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MGI Allele Allele Type Produced
Vrtntm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells

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