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

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 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
Scoliosis, Kyphosis OMIM:300518
Autosomal Dominant Brachyolmia
Platyspondyly, Increased vertebral height, Kyphoscoliosis, Short thorax ORPHA:93304
Osteomesopyknosis
Sclerotic vertebral body, Scoliosis, Abnormal form of the vertebral bodies, Kyphosis ORPHA:2777
Spondylocostal Dysostosis 3, Autosomal Recessive
Hypoplasia of the odontoid process, Supernumerary vertebral ossification centers, Vertebral segme... OMIM:609813
Neurogenic Thoracic Outlet Syndrome
Abnormal rib morphology ORPHA:100073
Spondylocostal Dysostosis 6, Autosomal Recessive
Cervical kyphosis, Spinal canal stenosis, Butterfly vertebrae, Hemivertebrae, Scoliosis OMIM:616566
Spondylocostal Dysostosis 2, Autosomal Recessive
Vertebral segmentation defect, Rib fusion, Short neck, Vertebral clefting, Hemivertebrae OMIM:608681
Parastremmatic Dwarfism
Short neck, Scoliosis, Kyphosis OMIM:168400
Acromesomelic Dysplasia, Maroteaux Type
Vertebral wedging, Abnormal form of the vertebral bodies, Beaking of vertebral bodies, Sprengel a... ORPHA:40
Horizontal Gaze Palsy With Progressive Scoliosis
Short neck, Scoliosis, Kyphosis ORPHA:2744
Sprengel Deformity
Rib segmentation abnormalities, Sprengel anomaly, Hemivertebrae, Spina bifida occulta, Cervical s... OMIM:184400
Ichthyosis--Cheek--Eyebrow Syndrome
Abnormal thorax morphology, Kyphoscoliosis OMIM:146720
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type
Platyspondyly, Pectus carinatum, Lumbar hyperlordosis, Intervertebral space narrowing, Irregular ... OMIM:609223
Spondylocostal Dysostosis 5
Pectus carinatum, Butterfly vertebrae, Missing ribs, Supernumerary ribs, Short neck, Low back pai... OMIM:122600
Fibrosis Of Extraocular Muscles, Congenital, 3C
Pectus excavatum, Kyphosis OMIM:609384
Brachyolmia Type 1, Hobaek Type
Platyspondyly, Pectus carinatum, Kyphosis, Squared-off platyspondyly, Intervertebral space narrow... OMIM:271530
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis
Thoracolumbar kyphosis, Kyphoscoliosis OMIM:236660
Brachyolmia Type 1, Toledo Type
Abnormal odontoid process morphology, Lumbar hyperlordosis, Precocious costochondral ossification... OMIM:271630
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Pectus carinatum, Scoliosis, Abnormal rib morphology ORPHA:3268
Thoracic Dysostosis, Isolated
Pectus excavatum, Bell-shaped thorax, Short ribs OMIM:187750
Heart Defects-Limb Shortening Syndrome
Narrow chest, Kyphosis, Abnormal form of the vertebral bodies, Abnormal rib morphology ORPHA:1354
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome
Abnormal rib morphology ORPHA:2435
Thoracomelic Dysplasia
Bell-shaped thorax, Short ribs OMIM:273740
Becker Nevus Syndrome
Pectus excavatum, Scoliosis, Hemivertebrae, Cervical ribs OMIM:604919
Hypogonadism, Male, With Impaired Intellectual Development And Skeletal Anomalies
Abnormality of the cervical spine, Superior rib anomalies OMIM:307500
Spondylocostal Dysostosis 1, Autosomal Recessive
Block vertebrae, Abnormal odontoid process morphology, Vertebral segmentation defect, Rib fusion,... OMIM:277300
Autosomal Dominant Spondylocostal Dysostosis
Short thorax, Abnormal sacrum morphology, Vertebral segmentation defect, Missing ribs, Short neck... ORPHA:1797
Thoracolaryngopelvic Dysplasia
Bell-shaped thorax, Horizontal ribs, Short ribs, Irregular chondrocostal junctions, Scoliosis, Ir... OMIM:187760
Spastic Paraplegia 18B, Autosomal Recessive
Scoliosis, Kyphosis OMIM:611225
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Short neck, Hyperlordosis, Scoliosis, Kyphosis, Spinal rigidity OMIM:300718
Bethlem Myopathy 2
Scoliosis, Kyphosis, Scapular winging OMIM:616471
Endosteal Hyperostosis, Worth Type
Sclerotic vertebral body, Abnormal form of the vertebral bodies, Clavicular sclerosis, Abnormal r... ORPHA:2790
Osteogenesis Imperfecta, Type Ix
Platyspondyly, Pectus carinatum, Multiple rib fractures, Pectus excavatum, Scoliosis, Kyphosis OMIM:259440
Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant
Platyspondyly, Pectus carinatum, Hypoplasia of the odontoid process, Lumbar hyperlordosis, Barrel... OMIM:184100
Kyphomelic Dysplasia
Narrow chest, Abnormal form of the vertebral bodies, Undulate ribs, Missing ribs, Anterior rib cu... ORPHA:1801
Myotonia With Skeletal Abnormalities And Impaired Intellectual Development
Pectus carinatum, Bell-shaped thorax, Vertebral wedging, Kyphoscoliosis 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 carinatum, Scoliosis, Pectus excavatum, Kyphosis ORPHA:276630
Spondylometaphyseal Dysplasia, A4 Type
Platyspondyly, Flared, irregular rib ends ORPHA:168555
Metatropic Dysplasia
Narrow chest, Hypoplastic cervical vertebrae, Abnormal form of the vertebral bodies, Long thorax,... ORPHA:2635
Isolated Klippel-Feil Syndrome
Abnormality of the vertebral column, Abnormal shoulder morphology, Cervical C2/C3 vertebral fusio... ORPHA:2345
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly
Narrow chest, Horizontal ribs, Lateral clavicle hook, Short ribs OMIM:617405
Spondyloepiphyseal Dysplasia Tarda, X-Linked
Platyspondyly, Hump-shaped mound of bone in central and posterior portions of vertebral endplate,... OMIM:313400
Brachyolmia Type 3
Platyspondyly, Barrel-shaped chest, Short neck, Scoliosis, Kyphosis OMIM:113500
Becker Nevus Syndrome
Pectus carinatum, Rib fusion, Supernumerary ribs, Spina bifida occulta, Pectus excavatum, Scolios... ORPHA:64755
Myasthenic Syndrome, Congenital, 25, Presynaptic
Scoliosis, Kyphosis, Spinal rigidity OMIM:618323
Intellectual Developmental Disorder With Muscle Tone Abnormalities And Distal Skeletal Defects
Pectus carinatum, Kyphosis OMIM:620007
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome
Pectus carinatum, Scoliosis, Kyphosis ORPHA:1548
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B
Scoliosis, Kyphosis OMIM:617087
Spondyloepiphyseal Dysplasia, Kondo-Fu Type
Pectus carinatum, Kyphosis OMIM:618392
Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability
Kyphosis, Scoliosis, Hyperlordosis, Spinal rigidity OMIM:617404
Intellectual Developmental Disorder, X-Linked, Syndromic 14
Pectus carinatum, Narrow chest, Pectus excavatum, Scoliosis, Kyphosis OMIM:300676
Autosomal Recessive Spastic Paraplegia Type 53
Pectus carinatum, Kyphosis ORPHA:319199
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Abnormal clavicle morphology, Short neck, Hyperlordosis, Abnormal rib morphology, Pectus excavatu... ORPHA:2522
X-Linked Charcot-Marie-Tooth Disease Type 1
Scoliosis, Kyphosis ORPHA:101075
Winchester Syndrome
Kyphosis OMIM:277950
Metatropic Dysplasia
Platyspondyly, Anisospondyly, Narrow chest, Hypoplasia of the odontoid process, Caudal appendage,... 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
Spondylometaphyseal Dysplasia, X-Linked
Platyspondyly, Pectus carinatum, Thoracolumbar scoliosis, Kyphosis OMIM:313420
Fetal Akinesia Deformation Sequence 4
11 pairs of ribs, Kyphosis, Short neck OMIM:618393
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type
Scoliosis, Kyphosis OMIM:300434
X-Linked Charcot-Marie-Tooth Disease Type 4
Scoliosis, Kyphosis ORPHA:101078
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita
Short neck, Bell-shaped thorax, Scoliosis, Kyphosis ORPHA:178148
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Narrow chest, Thoracic dysplasia, Bell-shaped thorax, Horizontal ribs, Lateral clavicle hook OMIM:615633
Spastic Paraplegia 53, Autosomal Recessive
Pectus carinatum, Kyphosis OMIM:614898
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2
Vertebral segmentation defect, Short neck, Abnormal rib morphology ORPHA:2578
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant
Hyperlordosis, Scapular winging, Pectus excavatum, Scoliosis, Kyphosis OMIM:615290
Idiopathic Juvenile Osteoporosis
Vertebral compression fracture, Kyphosis ORPHA:85193
Spondylocostal Dysostosis 4, Autosomal Recessive
Block vertebrae, Abnormal odontoid process morphology, Bell-shaped thorax, Vertebral segmentation... OMIM:613686
Osteogenesis Imperfecta, Type Xv
Thin ribs, Platyspondyly, Scoliosis OMIM:615220
Weismann-Netter Syndrome
Scoliosis, Horizontal sacrum, Kyphosis OMIM:112350
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Platyspondyly, Kyphosis 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, Sprengel anomaly, Hemivertebrae, Short ribs OMIM:173800
Spondyloepiphyseal Dysplasia, Maroteaux Type
Platyspondyly, Pectus carinatum, Atlantoaxial instability, Kyphoscoliosis, Short neck, Shield chest OMIM:184095
Craniodiaphyseal Dysplasia
Abnormal rib morphology ORPHA:1513
Masa Syndrome
Kyphosis, Hyperlordosis OMIM:303350
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures
Lumbar hyperlordosis, Scoliosis, Kyphosis OMIM:616756
Hip Dysplasia, Beukes Type
Scoliosis, Kyphosis ORPHA:2114
Intellectual Disability-Developmental Delay-Contractures Syndrome
Scoliosis, Kyphosis ORPHA:3454
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Thin ribs, Block vertebrae, Supernumerary vertebrae, Short ribs, Rib fusion, Missing ribs, Short ... OMIM:271520
Fibrochondrogenesis 2
Platyspondyly, Thoracic hypoplasia, Bell-shaped thorax, Short ribs, Cupped ribs OMIM:614524
Smith-Mccort Dysplasia 1
Platyspondyly, Hypoplastic scapulae, Hypoplasia of the odontoid process, Atlantoaxial instability... OMIM:607326
Autosomal Recessive Spondylocostal Dysostosis
Short thorax, Abnormal form of the vertebral bodies, Rib segmentation abnormalities, Vertebral se... ORPHA:2311
Hydrocephaly-Tall Stature-Joint Laxity Syndrome
Scoliosis, Kyphosis, Shoulder dislocation ORPHA:2181
Kleefstra Syndrome 2
Scoliosis, Kyphosis OMIM:617768
Bruck Syndrome 1
Platyspondyly, Pectus carinatum, Vertebral wedging, Scoliosis, Kyphosis OMIM:259450
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome
Short neck, Abnormal form of the vertebral bodies, Hemivertebrae, Abnormal rib morphology ORPHA:2234
Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome
Pectus excavatum, Kyphosis, Cervical ribs ORPHA:77300
Borjeson-Forssman-Lehmann Syndrome
Kyphosis, Scoliosis, Scheuermann-like vertebral changes, Cervical spinal canal stenosis OMIM:301900
Axial Spondylometaphyseal Dysplasia
Platyspondyly, Narrow chest, Posterior wedging of vertebral bodies, Thoracic hypoplasia, Aplasia/... ORPHA:168549
Klippel-Feil Syndrome 1, Autosomal Dominant
Cervical C2/C3 vertebral fusion, Short neck, Sprengel anomaly, Abnormal rib morphology, Scoliosis... OMIM:118100
Sandhoff Disease
Kyphosis ORPHA:796
Mitochondrial Myopathy And Sideroblastic Anemia
Scoliosis, Kyphosis ORPHA:2598
Mucopolysaccharidosis, Type Iva
Platyspondyly, Pectus carinatum, Hypoplasia of the odontoid process, Prominent sternum, Flaring o... OMIM:253000
Cdkl5-Deficiency Disorder
Scoliosis, Kyphosis ORPHA:505652
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Platyspondyly, Narrow chest, Abnormal clavicle morphology, Short neck, Abnormal rib morphology ORPHA:93267
Jeune Syndrome
Narrow chest, Abnormal clavicle morphology, Short thorax, Abnormal sternum morphology, Abnormal r... ORPHA:474
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome
Scoliosis, Kyphosis ORPHA:2429
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome
Scoliosis, Kyphosis ORPHA:1858
Mosaic Trisomy 14
Short neck, Narrow chest, Abnormal rib morphology ORPHA:1703
Thin Ribs-Tubular Bones-Dysmorphism Syndrome
Abnormal rib morphology ORPHA:1506
Thoracic Outlet Syndrome
Abnormal rib morphology ORPHA:97330
Gm1-Gangliosidosis, Type Iii
Anterior beaking of lumbar vertebrae, Platyspondyly, Scoliosis, Kyphosis OMIM:230650
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Platyspondyly, Lumbar hyperlordosis, Cupped ribs, Beaking of vertebral bodies, Scoliosis, Irregul... OMIM:609616
Hall-Riggs Syndrome
Platyspondyly, Scoliosis, Kyphosis, Irregular vertebral endplates OMIM:234250
X-Linked Charcot-Marie-Tooth Disease Type 5
Scoliosis, Kyphosis ORPHA:99014
Holt-Oram Syndrome
Abnormal clavicle morphology, Down-sloping shoulders, Sprengel anomaly, Abnormal rib morphology, ... ORPHA:392
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome
Scoliosis, Kyphosis ORPHA:85317
Mcdonough Syndrome
Pectus excavatum, Scoliosis, Kyphosis ORPHA:2471
10Q22.3Q23.3 Microduplication Syndrome
Abnormal clavicle morphology, Abnormal rib morphology ORPHA:276422
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Abnormal form of the vertebral bodies, Sprengel anomaly, Hemivertebrae, Abnormal rib morphology, ... ORPHA:2180
Myopathy, Centronuclear, 2
Kyphosis, Scoliosis, Hyperlordosis, Scapular winging OMIM:255200
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type
Scoliosis, Kyphosis OMIM:300861
Sialidosis Type 2
Pectus carinatum, Kyphosis, Short thorax ORPHA:87876
O'Donnell-Luria-Rodan Syndrome
Kyphosis OMIM:618512
Mucopolysaccharidosis Type 4
Platyspondyly, Pectus carinatum, Short thorax, Spinal canal stenosis, Short neck, Hyperlordosis, ... ORPHA:582
Achondrogenesis Type 1B
Short neck, Narrow chest, Abnormal rib morphology, Short thorax ORPHA:93298
Dyggve-Melchior-Clausen Disease
Platyspondyly, Pectus carinatum, Hypoplastic scapulae, Flat glenoid fossa, Hypoplasia of the odon... OMIM:223800
Mucopolysaccharidosis, Type X
Platyspondyly, Broad clavicles, Broad ribs, Spatulate ribs, Beaking of vertebral bodies, Hyperlor... OMIM:619698
Spondylometaphyseal Dysplasia, Kozlowski Type
Platyspondyly, Pectus carinatum, Hypoplasia of the odontoid process, Vertebral wedging, Abnormali... ORPHA:93314
Vertebral Hypersegmentation And Orofacial Anomalies
Supernumerary ribs, Pectus excavatum, Six lumbar vertebrae, Scapular winging OMIM:619122
3M Syndrome
Thin ribs, Increased vertebral height, Horizontal ribs, Short neck, Hyperlordosis, Scapular wingi... ORPHA:2616
Ck Syndrome
Kyphosis, Scoliosis, Hyperlordosis OMIM:300831
Mucolipidosis Iii Gamma
Pectus carinatum, Short neck, Hyperlordosis, Shoulder contracture, Scoliosis, Kyphosis OMIM:252605
Spinocerebellar Ataxia, Autosomal Recessive 8
Scoliosis, Kyphosis OMIM:610743
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor
Pectus excavatum, Kyphosis, Sacral dimple OMIM:618272
Ruvalcaba Syndrome
Narrow chest, Scoliosis, Kyphosis OMIM:180870
Laryngotracheoesophageal Cleft Type 4
Abnormal form of the vertebral bodies, Abnormal rib morphology ORPHA:93941
Mitochondrial Complex I Deficiency, Nuclear Type 11
Scoliosis, Kyphosis OMIM:618234
Mitochondrial Complex I Deficiency, Nuclear Type 15
Kyphosis OMIM:618237
Congenital Arthrogryposis With Anterior Horn Cell Disease
Short neck, Scoliosis, Kyphosis OMIM:611890
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies
Pectus carinatum, Scoliosis, Kyphosis OMIM:619797
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Sprengel anomaly, Abnormality of the vertebral column, Abnormal rib morphology OMIM:601076
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Kyphosis ORPHA:1875
Grant Syndrome
Abnormality of the glenoid fossa, Narrow chest, Sprengel anomaly, Abnormal rib morphology ORPHA:2097
Spondyloepiphyseal Dysplasia Congenita
Platyspondyly, Pectus carinatum, Hypoplasia of the odontoid process, Atlantoaxial instability, Lu... OMIM:183900
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3
Thin ribs, Platyspondyly, Narrow vertebral interpedicular distance, Short neck, Scoliosis, Irregu... OMIM:618395
White Forelock With Malformations
Spina bifida occulta, Sprengel anomaly, Abnormal rib morphology ORPHA:2475
Femoral-Facial Syndrome
Vertebral segmentation defect, Rib fusion, Sprengel anomaly, Abnormal rib morphology, Abnormal sa... ORPHA:1988
Diastrophic Dysplasia
Hypoplastic cervical vertebrae, Abnormal clavicle morphology, Abnormal form of the vertebral bodi... ORPHA:628
Mesomelic Dysplasia, Kantaputra Type
Vertebral segmentation defect, Abnormal rib morphology ORPHA:1836
Lethal Congenital Contracture Syndrome Type 1
Short neck, Abnormal form of the vertebral bodies, Abnormal rib morphology ORPHA:1486
Septopreoptic Holoprosencephaly
Abnormal vertebral morphology, Abnormal rib morphology ORPHA:280195
Arthrogryposis Multiplex Congenita 3, Myogenic Type
Scoliosis, Kyphosis, Kyphoscoliosis OMIM:618484
Intellectual Developmental Disorder, Autosomal Dominant 23
Kyphosis, Scoliosis, Hyperlordosis, Sacral dimple OMIM:615761
Zimmermann-Laband Syndrome 3
Kyphosis OMIM:618658
Fibrochondrogenesis
Narrow chest, Hypoplastic scapulae, Abnormal form of the vertebral bodies, Broad ribs, Bell-shape... ORPHA:2021
Ullrich Congenital Muscular Dystrophy
Short neck, Scoliosis, Kyphosis, Spinal rigidity ORPHA:75840
Bruck Syndrome
Platyspondyly, Scoliosis, Kyphosis ORPHA:2771
Hemifacial Atrophy, Progressive
Kyphosis OMIM:141300
Difference Of Sex Development-Intellectual Disability Syndrome
Spina bifida occulta, Short neck, Kyphosis, Short thorax ORPHA:2983
Myopathic Ehlers-Danlos Syndrome
Shoulder flexion contracture, Kyphoscoliosis, Hyperlordosis, Pectus excavatum, Scoliosis, Kyphosis ORPHA:536516
Hypomelanosis Of Ito
Scoliosis, Kyphosis OMIM:300337
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Missing ribs, Abnormal form of the vertebral bodies, Hemivertebrae, Abnormal rib morphology ORPHA:2759
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development
Scoliosis, Kyphosis OMIM:618124
Microcephalic Primordial Dwarfism, Montreal Type
Scoliosis, Kyphosis, Vertebral segmentation defect ORPHA:2617
Acro-Renal-Mandibular Syndrome
Thin ribs, Pectus carinatum, Hypoplastic scapulae, Abnormal clavicle morphology, Butterfly verteb... ORPHA:958
Developmental Malformations-Deafness-Dystonia Syndrome
Hypoplastic scapulae, Scoliosis, Kyphosis ORPHA:79107
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Abnormality of the cervical spine, Scoliosis, Kyphosis ORPHA:48431
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Thin ribs, Thoracolumbar kyphosis, Narrow chest, Thoracic hypoplasia, Disc-like vertebral bodies,... OMIM:151210
Marfanoid Habitus With Situs Inversus
Pectus carinatum, Scoliosis, Kyphosis OMIM:609008
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome
Pectus carinatum, Short neck, Kyphosis, Abnormal rib morphology ORPHA:3082
Sjögren-Larsson Syndrome
Scoliosis, Kyphosis ORPHA:816
Osteogenesis Imperfecta, Type Iii
Thin ribs, Scoliosis, Kyphosis, Biconcave vertebral bodies OMIM:259420
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Kyphosis, Sprengel anomaly, Hyperlordosis, Scapular winging, Pectus excavatum, Scoliosis, Back pa... ORPHA:98855
Thanatophoric Dysplasia
Platyspondyly, Narrow chest, Abnormal sacroiliac joint morphology, Short thorax, Kyphosis ORPHA:2655
Cat-Eye Syndrome
Abnormal rib morphology ORPHA:195
X-Linked Emery-Dreifuss Muscular Dystrophy
Kyphosis, Short neck, Sprengel anomaly, Hyperlordosis, Scapular winging, Pectus excavatum, Scolio... ORPHA:98863
Cole-Carpenter Syndrome
Scoliosis, Kyphosis, Abnormal form of the vertebral bodies, Abnormal rib morphology ORPHA:2050
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Pectus carinatum, Kyphosis ORPHA:500180
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1
Scoliosis, Kyphosis OMIM:130060
Spondyloepiphyseal Dysplasia Congenita
Platyspondyly, Kyphosis, Lumbar hyperlordosis, Barrel-shaped chest, Short neck, Cervical instabil... ORPHA:94068
Orofaciodigital Syndrome Iii
Short sternum, Pectus excavatum, Kyphosis OMIM:258850
Sialidosis Type 1
Pectus carinatum, Abnormal form of the vertebral bodies, Short thorax, Scoliosis, Kyphosis ORPHA:812
Typical Nemaline Myopathy
Narrow chest, Short neck, Hyperlordosis, Pectus excavatum, Scoliosis, Kyphosis, Spinal rigidity ORPHA:171436
Achondrogenesis, Type Ia
Broad clavicles, Hypoplastic scapulae, Narrow chest, Unossified vertebral bodies, Hypoplastic sac... OMIM:200600
Spondyloepimetaphyseal Dysplasia, Irapa Type
Platyspondyly, Pectus carinatum, Abnormal rib morphology ORPHA:93351
Zimmermann-Laband Syndrome 2
Short neck, Kyphosis OMIM:616455
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Kyphosis, Vertebral fusion, Scoliosis, Hyperlordosis OMIM:606612
Juberg-Hayward Syndrome
Abnormal vertebral morphology, Scoliosis, Abnormal rib morphology ORPHA:2319
Lopes-Maciel-Rodan Syndrome
Scoliosis, Kyphosis OMIM:617435
Ruvalcaba Syndrome
Pectus carinatum, Narrow chest, Abnormal vertebral epiphysis morphology, Scoliosis, Kyphosis ORPHA:3121
Thanatophoric Dysplasia Type 2
Platyspondyly, Narrow chest, Kyphosis, Short thorax ORPHA:93274
Ectodermal Dysplasia-Sensorineural Deafness Syndrome
Scoliosis, Kyphosis ORPHA:1883
Mucopolysaccharidosis, Type Ivb
Platyspondyly, Hypoplasia of the odontoid process, Prominent sternum, Flaring of rib cage, Hyperl... OMIM:253010
Mitochondrial Dna Depletion Syndrome 11
Kyphosis, Neuropathic spinal arthropathy, Spinal rigidity OMIM:615084
Intellectual Developmental Disorder, Autosomal Dominant 26
Scoliosis, Kyphosis OMIM:615834
Cooper-Jabs Syndrome
Missing ribs, Scoliosis, Abnormal rib morphology ORPHA:1488
Arthrogryposis, Distal, Type 5
Pectus excavatum, Scoliosis, Kyphosis OMIM:108145
Emery-Dreifuss Muscular Dystrophy
Kyphosis, Sprengel anomaly, Hyperlordosis, Scapular winging, Pectus excavatum, Scoliosis, Back pa... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Kyphosis, Sprengel anomaly, Hyperlordosis, Scapular winging, Pectus excavatum, Scoliosis, Back pa... ORPHA:98853
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Kyphosis, Vertebral fusion, Scoliosis, Hyperlordosis OMIM:607155
Baralle-Macken Syndrome
Kyphosis OMIM:619255
Microcephalic Primordial Dwarfism, Toriello Type
Abnormal rib morphology ORPHA:2643
Weismann-Netter Syndrome
Kyphosis, Scoliosis, Abnormal form of the vertebral bodies ORPHA:3344
Gm1-Gangliosidosis, Type I
Hypoplastic vertebral bodies, Short neck, Beaking of vertebral bodies, Scoliosis, Thickened ribs,... OMIM:230500
Scapuloperoneal Spinal Muscular Atrophy
Kyphosis, Scoliosis, Hyperlordosis, Scapular winging OMIM:181405
Autism Spectrum Disorder Due To Auts2 Deficiency
Scoliosis, Kyphosis ORPHA:352490
Stickler Syndrome, Type I
Platyspondyly, Spondylolisthesis, Morbus Scheuermann, Beaking of vertebral bodies, Pectus excavat... OMIM:108300
Pseudoachondroplasia
Platyspondyly, Atlantoaxial dislocation, Hypoplasia of the odontoid process, Lumbar hyperlordosis... OMIM:177170
Spastic Paraplegia 46, Autosomal Recessive
Scoliosis, Kyphosis OMIM:614409
Mucopolysaccharidosis Type 6
Broad ribs, Short neck, Kyphosis, Ovoid vertebral bodies ORPHA:583
Lipomatosis, Multiple Symmetric, With Or Without Axonal Peripheral Neuropathy
Kyphosis OMIM:151800
Rhizomelic Syndrome, Urbach Type
Short neck, Kyphosis, Abnormal form of the vertebral bodies ORPHA:3098
Cole-Carpenter Syndrome 2
Thin ribs, Pectus excavatum, Platyspondyly, Kyphosis OMIM:616294
Myofibrillar Myopathy 10
Kyphosis OMIM:619040
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
Kyphosis OMIM:618138
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Kyphosis, Hyperlordosis ORPHA:3085
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome
Abnormal form of the vertebral bodies, Hypoplastic vertebral bodies, Hemivertebrae, Vertebral fus... ORPHA:2916
Achondroplasia
Thoracolumbar kyphosis, Thoracic hypoplasia, Cervical spinal canal stenosis, Lumbar hyperlordosis... ORPHA:15
Frank-Ter Haar Syndrome
Beaking of vertebral bodies, Scoliosis, Kyphosis ORPHA:137834
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Kyphosis, Neuropathic spinal arthropathy, Spinal rigidity ORPHA:352447
Alg1-Cdg
Scoliosis, Kyphosis ORPHA:79327
Melnick-Needles Syndrome
Anisospondyly, Narrow chest, Short thorax, Short clavicles, Abnormal rib morphology, Scoliosis ORPHA:2484
Wieacker-Wolff Syndrome
Narrow chest, Short neck, Hyperlordosis, Scoliosis, Kyphosis OMIM:314580
Crisponi Syndrome
Scoliosis, Kyphosis ORPHA:1545
Hypophosphatasia
Narrow chest, Abnormal rib morphology ORPHA:436
Prune Belly Syndrome
Pectus excavatum, Scoliosis, Vertebral segmentation defect, Abnormal rib morphology ORPHA:2970
Subaortic Stenosis-Short Stature Syndrome
Short neck, Scoliosis, Kyphosis ORPHA:3191
Axial Mesodermal Dysplasia Spectrum
Abnormal form of the vertebral bodies, Vertebral segmentation defect, Missing ribs, Short neck, A... ORPHA:1834
Clark-Baraitser syndrome
Scoliosis, Kyphosis OMIM:300602
Mucolipidosis Iii Alpha/Beta
Broad ribs, Spondylolisthesis, Short ribs, Scoliosis, Kyphosis OMIM:252600
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome
Scoliosis, Kyphosis ORPHA:464282
Mucopolysaccharidosis, Type Vii
Thoracolumbar kyphosis, Pectus carinatum, Platyspondyly, Hypoplasia of the odontoid process, Ante... OMIM:253220
Alpha-Mannosidosis
Short neck, Scoliosis, Kyphosis ORPHA:61
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome
Pectus carinatum, Hyperlordosis, Abnormal rib morphology ORPHA:3068
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type
Thoracolumbar kyphosis, Platyspondyly, Kyphoscoliosis, Abnormal curvature of the vertebral column... ORPHA:93360
Fountain Syndrome
Abnormal form of the vertebral bodies, Spina bifida occulta, Scoliosis, Pectus excavatum, Kyphosis ORPHA:3219
Osteogenesis Imperfecta, Type Viii
Thin ribs, Platyspondyly, Barrel-shaped chest, Vertebral compression fracture, Scoliosis, Kyphosis OMIM:610915
Renpenning Syndrome
Pectus excavatum, Sprengel anomaly, Abnormal rib morphology ORPHA:3242
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Scoliosis, Kyphosis OMIM:609541
Gorlin Syndrome
Abnormal vertebral morphology, Vertebral wedging, Abnormal rib morphology, Rib fusion, Bifid ribs... ORPHA:377
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Abnormal rib morphology ORPHA:2772
4Q21 Microdeletion Syndrome
Short neck, Scoliosis, Kyphosis ORPHA:238750
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Broad ribs, Abnormal sternum morphology, Abnormal rib morphology, Short ribs ORPHA:2519
Harrod Syndrome
Abnormal shoulder morphology, Scoliosis, Kyphosis ORPHA:2115
Spondyloperipheral Dysplasia
Platyspondyly, Pectus carinatum, Barrel-shaped chest, Short neck, Kyphosis, Ovoid vertebral bodie... OMIM:271700
Progressive Non-Infectious Anterior Vertebral Fusion
Abnormality of the vertebral column, Hemivertebrae, Abnormal intervertebral disk morphology, Scol... ORPHA:2062
Chromosome 3Q13.31 Deletion Syndrome
Kyphosis OMIM:615433
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome
Asymmetry of the thorax, Pectus excavatum, Scoliosis, Kyphosis ORPHA:1969
Trisomy 9P
Short neck, Scoliosis, Kyphosis, Sacral dimple ORPHA:236
Uruguay Faciocardiomusculoskeletal Syndrome
Scoliosis, Kyphosis, Kyphoscoliosis OMIM:300280
Flynn-Aird Syndrome
Scoliosis, Kyphosis ORPHA:2047
Wieacker-Wolff Syndrome, Female-Restricted
Narrow chest, Scoliosis, Kyphosis, Short neck OMIM:301041
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Abnormally ossified vertebrae, Abnormal rib morphology ORPHA:3035
Trisomy 13
Narrow chest, Scoliosis, Kyphosis, Abnormal rib morphology ORPHA:3378
Desbuquois Dysplasia 1
Platyspondyly, Narrow chest, Short neck, Hyperlordosis, Scoliosis, Kyphosis OMIM:251450
Microphthalmia, Lenz Type
Abnormal clavicle morphology, Abnormal shoulder morphology, Long thorax, Hyperlordosis, Scoliosis... ORPHA:568
Arthrogryposis, Distal, Type 4
Lumbar scoliosis, Scoliosis, Kyphosis OMIM:609128
Phaver Syndrome
Butterfly vertebrae, Abnormal form of the vertebral bodies, Abnormal rib morphology ORPHA:2876
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly
Thoracolumbar kyphosis, Platyspondyly, Thoracic hypoplasia, Thoracic platyspondyly, Horizontal ri... OMIM:618019
Familial Osteodysplasia, Anderson Type
Aplastic clavicle, Abnormal form of the vertebral bodies, Missing ribs, Abnormal rib morphology, ... ORPHA:2769
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Sclerotic vertebral body, Pectus carinatum, Platyspondyly, Bell-shaped thorax, Kyphosis OMIM:618476
Dystonia 1, Torsion, Autosomal Dominant
Kyphosis, Scoliosis, Hyperlordosis OMIM:128100
Lateral Meningocele Syndrome
Abnormal form of the vertebral bodies, Short neck, Hyperlordosis, Pectus excavatum, Scoliosis, Ky... ORPHA:2789
Congenital Myopathy 22A, Classic
Thoracic scoliosis, Scapular winging, Pectus excavatum, Scoliosis, Kyphosis, Spinal rigidity OMIM:620351
Campomelic Dysplasia
Small abnormally formed scapulae, Narrow chest, 11 pairs of ribs, Short neck, Poorly ossified cer... ORPHA:140
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Spina bifida occulta, Scoliosis, Kyphosis, Sacral dimple OMIM:618291
Dysostosis, Stanescu Type
Short neck, Hyperlordosis, Pectus excavatum, Scoliosis, Kyphosis ORPHA:1798
Osteogenesis Imperfecta, Type Iv
Biconcave flattened vertebrae, Scoliosis, Kyphosis OMIM:166220
Craniosynostosis, Herrmann-Opitz Type
Abnormal rib morphology ORPHA:2145
Mosaic Trisomy 20
Narrow chest, Spinal canal stenosis, Vertebral segmentation defect, Down-sloping shoulders, Verte... ORPHA:1724
Atypical Rett Syndrome
Scoliosis, Kyphosis ORPHA:3095
Srd5A3-Cdg
Abnormal sacrum morphology, Kyphosis ORPHA:324737
Fliedner-Zweier Syndrome
Pectus excavatum, Scoliosis, Kyphosis OMIM:620511
Ehlers-Danlos Syndrome, Arthrochalasia Type, 2
Kyphosis, Scoliosis, Hyperlordosis OMIM:617821
Poland Syndrome
Asymmetry of the thorax, Pectus carinatum, Abnormal sternum morphology, Aplasia/Hypoplasia of the... ORPHA:2911
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Kyphosis, Thoracic scoliosis OMIM:603387
Pseudoxanthoma Elasticum, Forme Fruste
Scoliosis, Kyphosis, Abnormal sternum morphology OMIM:177850
Urban-Rogers-Meyer Syndrome
Short neck, Kyphosis ORPHA:3409
Thanatophoric Dysplasia Type 1
Platyspondyly, Narrow chest, Abnormal sacroiliac joint morphology, Kyphosis ORPHA:1860
Myasthenic Syndrome, Congenital, 20, Presynaptic
Scoliosis, Kyphosis OMIM:617143
Schaaf-Yang Syndrome
Scoliosis, Kyphosis OMIM:615547
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Pectus excavatum, Scoliosis, Kyphosis, Scapular winging OMIM:617061
Marinesco-Sjogren Syndrome
Scoliosis, Kyphosis OMIM:248800
Cleft Palate-Congenital Heart Defect-Intellectual Disability Syndrome Due To 15Q14 Microdeletion
Scoliosis, Kyphosis ORPHA:261190
Cleidocranial Dysplasia
Narrow chest, Hypoplastic scapulae, Down-sloping shoulders, Short clavicles, Abnormal rib morphol... ORPHA:1452
Campomelia, Cumming Type
Abnormal thorax morphology, Abnormally ossified vertebrae, Abnormal rib morphology ORPHA:1318
3C Syndrome
Missing ribs, Short neck, Hemivertebrae, Scoliosis, Kyphosis ORPHA:7
Osteoporosis-Pseudoglioma Syndrome
Platyspondyly, Biconcave vertebral bodies, Barrel-shaped chest, Kyphoscoliosis, Severe platyspond... OMIM:259770
Holzgreve Syndrome
Abnormally ossified vertebrae, Abnormal rib morphology ORPHA:2167
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Vertebral segmentation defect, Abnormal rib morphology ORPHA:1120
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2
Kyphosis, Caudal interpedicular narrowing, Scoliosis, Posterior scalloping of vertebral bodies, I... OMIM:603546
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Scoliosis, Kyphosis OMIM:615381
Marden-Walker Syndrome
Short neck, Scoliosis, Kyphosis, Abnormal sternum morphology OMIM:248700
Ullrich Congenital Muscular Dystrophy 1A
Scoliosis, Kyphosis, Spinal rigidity OMIM:254090
Jaberi-Elahi Syndrome
Pectus carinatum, Scoliosis, Kyphosis OMIM:617988
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Kyphosis OMIM:300354
Waardenburg Syndrome, Type 1
Supernumerary ribs, Sprengel anomaly, Supernumerary vertebrae OMIM:193500
Alagille Syndrome
Abnormal form of the vertebral bodies, Vertebral segmentation defect, Butterfly vertebral arch, A... ORPHA:52
Cartilage-Hair Hypoplasia
Pectus carinatum, Narrow chest, Biconvex vertebral bodies, Short thorax, Abnormal form of the ver... ORPHA:175
Distal 16P11.2 Microdeletion Syndrome
Kyphosis ORPHA:261222
Cenani-Lenz Syndrome
Scoliosis, Abnormal form of the vertebral bodies, Abnormal rib morphology ORPHA:3258
Cleidocranial Dysplasia 1
Aplastic clavicle, Narrow chest, Hypoplastic scapulae, Spondylolysis, Cervical ribs, Abnormal fac... OMIM:119600
Pycnodysostosis
Spondylolysis, Narrow chest, Abnormal clavicle morphology, Spondylolisthesis, Hyperlordosis, Scol... ORPHA:763
Spondyloarthropathy, Susceptibility To, 1
Sacroiliac arthritis, Kyphosis, Back pain OMIM:106300
Pelizaeus-Merzbacher Disease
Scoliosis, Kyphosis ORPHA:702
Lateral Meningocele Syndrome
Biconcave vertebral bodies, Short neck, Vertebral fusion, Pectus excavatum, Scoliosis, Kyphosis OMIM:130720
Cdags Syndrome
Short clavicles, Kyphosis, Short ribs OMIM:603116
Noonan Syndrome 14
Pectus carinatum, Short neck, Scapular winging, Pectus excavatum, Kyphosis OMIM:619745
Shashi-Pena Syndrome
Cervical C2/C3 vertebral fusion, Scoliosis, Kyphosis OMIM:617190
Foxg1 Syndrome Due To 14Q12 Microdeletion
Scoliosis, Kyphosis ORPHA:261144
Cowden Syndrome 5
Pectus excavatum, Scoliosis, Kyphosis OMIM:615108
Koolen-De Vries Syndrome
Vertebral segmentation defect, Vertebral fusion, Pectus excavatum, Scoliosis, Kyphosis ORPHA:96169
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities
Kyphosis, Scoliosis, Thoracolumbar scoliosis, Hyperlordosis OMIM:618443
Mosaic Trisomy 8
Narrow chest, Vertebral segmentation defect, Short neck, Abnormal rib morphology, Scoliosis ORPHA:96061
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Platyspondyly, Narrow chest, Kyphosis, Lumbar hyperlordosis OMIM:616482
Pyknoachondrogenesis
Unossified sacrum, Horizontal ribs, Short ribs, Poorly ossified vertebrae, Short thorax, Enlarged... ORPHA:3003
Tetraamelia-Multiple Malformations Syndrome
Missing ribs, Abnormally ossified vertebrae, Abnormal rib morphology ORPHA:3301
Cono-Spondylar Dysplasia
Short neck, Scoliosis, Kyphosis ORPHA:420794
15Q24 Microdeletion Syndrome
Scoliosis, Kyphosis ORPHA:94065
Multiple Pterygium-Malignant Hyperthermia Syndrome
Pectus excavatum, Scoliosis, Kyphosis, Abnormal rib morphology ORPHA:2215
Congenital Disorder Of Glycosylation, Type Il
Short neck, Kyphosis OMIM:608776
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome
Narrow chest, Abnormal form of the vertebral bodies, Posterior scalloping of vertebral bodies, Pe... ORPHA:3042
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome
Scoliosis, Kyphosis, Vertebral segmentation defect ORPHA:1005
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Thoracolumbar kyphosis, Hypoplasia of the odontoid process, Cervical spinal canal stenosis, Lumba... ORPHA:508533
3Q29 Microdeletion Syndrome
Pectus carinatum, Pectus excavatum, Six lumbar vertebrae ORPHA:65286
Aspergillosis
Abnormality of the vertebral column, Abnormal rib morphology ORPHA:1163
X-Linked Intellectual Disability, Cabezas Type
Short neck, Scoliosis, Kyphosis, Down-sloping shoulders ORPHA:85293
Cowden Syndrome 6
Pectus excavatum, Scoliosis, Kyphosis OMIM:615109
Multiple Pterygium Syndrome, Escobar Variant
Anterior clefting of vertebral bodies, Down-sloping shoulders, Rib fusion, Short neck, Thoracolum... OMIM:265000
Pelger-Huet Anomaly
Kyphosis OMIM:169400
Pontocerebellar Hypoplasia, Type 17
Kyphosis OMIM:619909
Basel-Vanagaite-Smirin-Yosef Syndrome
Pectus carinatum, Scoliosis, Kyphosis OMIM:616449
Spondylometaphyseal Dysplasia, Sedaghatian Type
Platyspondyly, Narrow chest, Abnormal scapula morphology, Abnormal rib morphology ORPHA:93317
Coffin-Lowry Syndrome
Pectus carinatum, Abnormal form of the vertebral bodies, Pectus excavatum, Scoliosis, Kyphosis ORPHA:192
19P13.12 Microdeletion Syndrome
Short neck, Scoliosis, Kyphosis ORPHA:254346
Postaxial Acrofacial Dysostosis
Pectus excavatum, Supernumerary vertebrae OMIM:263750
Shprintzen Omphalocele Syndrome
Narrow chest, Scoliosis, Kyphosis, Lumbar hyperlordosis OMIM:182210
Occipital Horn Syndrome
Platyspondyly, Pectus carinatum, Narrow chest, Broad clavicles, Broad ribs, Short clavicles, Pect... OMIM:304150
Rett Syndrome
Scoliosis, Kyphosis OMIM:312750
X-Linked Intellectual Disability Due To Gria3 Mutations
Scoliosis, Kyphosis ORPHA:364028
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Scoliosis, Kyphosis ORPHA:404440
Ectodermal Dysplasia, Sensorineural Hearing Loss, And Distinctive Facial Features
Pectus excavatum, Kyphosis OMIM:609944
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome
Scoliosis, Kyphosis ORPHA:88628
Radio-Renal Syndrome
Short neck, Abnormal form of the vertebral bodies, Abnormal rib morphology ORPHA:3015
Gm1 Gangliosidosis
Platyspondyly, Abnormal form of the vertebral bodies, Hyperlordosis, Scoliosis, Kyphosis ORPHA:354
Multiple Endocrine Neoplasia, Type Iib
Kyphosis, Pectus excavatum, Scoliosis, Hyperlordosis OMIM:162300
Hurler Syndrome
Abnormal vertebral morphology, Abnormal clavicle morphology, Spinal canal stenosis, Short neck, A... ORPHA:93473
Trisomy 20P
Platyspondyly, Abnormal form of the vertebral bodies, Vertebral segmentation defect, Short neck, ... ORPHA:261318
Distal Triplication 15Q
Scoliosis, Kyphosis, Abnormal sternum morphology ORPHA:314588
Vacterl/Vater Association
Vertebral segmentation defect, Abnormal sacrum morphology, Abnormal intervertebral disk morpholog... ORPHA:887
Postencephalitic Parkinsonism
Camptocormia, Kyphosis ORPHA:97349
Fucosidosis
Anterior beaking of lumbar vertebrae, Kyphosis ORPHA:349
Emanuel Syndrome
Scoliosis, Kyphosis, Sacral dimple OMIM:609029
Cockayne Syndrome Type 2
Scoliosis, Kyphosis ORPHA:90322
Hurler-Scheie Syndrome
Scoliosis, Kyphosis OMIM:607015
Pituitary Adenoma 4, Acth-Secreting
Vertebral compression fracture, Kyphosis, Biconcave vertebral bodies OMIM:219090
Marfanoid-Progeroid-Lipodystrophy Syndrome
Pectus excavatum, Narrow chest, Kyphosis, Scapular winging OMIM:616914
Hurler Syndrome
Hypoplasia of the odontoid process, Biconcave vertebral bodies, Short clavicles, Short neck, C1-C... OMIM:607014
Autosomal Recessive Ataxia, Beauce Type
Scoliosis, Kyphosis ORPHA:88644
Monosomy 9Q22.3
Abnormality of the vertebral column, Short neck, Abnormal rib morphology, Pectus excavatum, Kyphosis ORPHA:77301
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Short neck, Sprengel anomaly, Hemivertebrae, Scoliosis, Kyphosis OMIM:618223
Schwartz-Jampel Syndrome
Platyspondyly, Pectus carinatum, Shoulder flexion contracture, Abnormally straight spine, Short n... ORPHA:800
Autosomal Dominant Popliteal Pterygium Syndrome
Scoliosis, Abnormal rib morphology ORPHA:1300
2P15P16.1 Microdeletion Syndrome
Pectus excavatum, Scoliosis, Kyphosis, Enlarged thorax ORPHA:261349
Genitopalatocardiac Syndrome
Scoliosis, Kyphosis ORPHA:2075
Congenital Heart Defects And Skeletal Malformations Syndrome
Pectus excavatum, Scoliosis, Kyphosis OMIM:617602
Oculocerebrocutaneous Syndrome
Missing ribs, Abnormal rib morphology ORPHA:1647
Koolen-De Vries Syndrome
Spondylolisthesis, Vertebral fusion, Pectus excavatum, Scoliosis, Kyphosis, Sacral dimple OMIM:610443
Cerebrocostomandibular Syndrome
Posterior rib gap, Bell-shaped thorax, Kyphosis ORPHA:1393
Antley-Bixler Syndrome
Narrow chest, Abnormal rib morphology ORPHA:83
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4
Scoliosis, Kyphosis OMIM:619951
Paget Disease Of Bone 5, Juvenile-Onset
Kyphosis, Barrel-shaped chest OMIM:239000
Cowden Syndrome 1
Pectus excavatum, Scoliosis, Kyphosis OMIM:158350
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Pectus excavatum, Scoliosis, Kyphosis ORPHA:476126
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Lumbar hyperlordosis, Barrel-shaped chest, Intervertebral space narrowing, Narrow vertebral inter... OMIM:143095
Intellectual Developmental Disorder, X-Linked, Syndromic 33
Prominent protruding coccyx, Short neck, Prominent coccyx, Pectus excavatum, Scoliosis, Kyphosis,... OMIM:300966
Acth-Independent Macronodular Adrenal Hyperplasia
Kyphosis OMIM:219080
Trisomy 1Q
Abnormal rib morphology, Short thorax ORPHA:261344
Brown-Vialetto-Van Laere Syndrome 1
Scoliosis, Kyphosis OMIM:211530
Pigmented Nodular Adrenocortical Disease, Primary, 2
Kyphosis OMIM:610475
Short Stature, Impaired Intellectual Development, Microcephaly, Hypotonia, And Ocular Anomalies
Scoliosis, Kyphosis OMIM:619557
Alkaptonuria
Low back pain, Vertebral fusion, Kyphosis, Intervertebral disk degeneration OMIM:203500
Megalocornea-Intellectual Disability Syndrome
Scoliosis, Kyphosis ORPHA:2479
Chromosome Xq26.3 Duplication Syndrome
Kyphosis OMIM:300942
Classical-Like Ehlers-Danlos Syndrome Type 2
Thoracic scoliosis, Kyphoscoliosis, Shoulder dislocation, Pectus excavatum, Kyphosis, Sacral dimple ORPHA:536532
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome
Aplastic clavicle, Abnormal clavicle morphology, Kyphosis, Short thorax ORPHA:85199
Wolf-Hirschhorn Syndrome
Abnormal vertebral morphology, Abnormality of the vertebral column, Abnormal form of the vertebra... ORPHA:280
Micro Syndrome
Scoliosis, Kyphosis ORPHA:2510
Spondyloenchondrodysplasia
Platyspondyly, Pectus carinatum, Kyphosis ORPHA:1855
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities
Scoliosis, Kyphosis OMIM:618493
Marshall-Smith Syndrome
Atlantoaxial dislocation, Hypoplasia of the odontoid process, Thoracic scoliosis, Kyphoscoliosis,... OMIM:602535
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Pectus carinatum, Scoliosis, Pectus excavatum, Kyphosis ORPHA:394
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism
Kyphosis OMIM:619244
Cohen Syndrome
Pectus excavatum, Scoliosis, Kyphosis ORPHA:193
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia
Scoliosis, Kyphosis OMIM:619718
Weaver Syndrome
Scoliosis, Kyphosis, Short ribs OMIM:277590
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Scoliosis, Kyphosis, Hemivertebrae, Kyphoscoliosis OMIM:301040
Frank-Ter Haar Syndrome
Broad clavicles, Anterior concavity of thoracic vertebrae, Kyphoscoliosis, Prominent coccyx, Pect... OMIM:249420
Fibrous Dysplasia Of Bone
Abnormal clavicle morphology, Abnormal lumbar spine morphology, Abnormality of the cervical spine... ORPHA:249
Autosomal Recessive Robinow Syndrome
Pectus carinatum, Vertebral segmentation defect, Rib fusion, Short neck, Pectus excavatum, Scolio... ORPHA:1507
Mgat2-Cdg
Pectus excavatum, Scoliosis, Kyphosis ORPHA:79329
Mucopolysaccharidosis, Type Ii
Short neck, Kyphosis OMIM:309900
Osteogenesis Imperfecta
Thin ribs, Pectus carinatum, Narrow chest, Cervical kyphosis, Thoracic hypoplasia, Abnormal form ... ORPHA:666
16Q24.3 Microdeletion Syndrome
Scoliosis, Kyphosis ORPHA:261250
Basel-Vanagaite-Smirin-Yosef Syndrome
Pectus carinatum, Scoliosis, Kyphosis ORPHA:464738
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Pectus carinatum, Kyphosis OMIM:617527
Plaa-Associated Neurodevelopmental Disorder
Pectus carinatum, Kyphosis ORPHA:521426
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion
Scoliosis, Kyphosis ORPHA:500055
Otopalatodigital Syndrome Type 2
Abnormal vertebral segmentation and fusion, Narrow chest, Scoliosis, Abnormal rib morphology ORPHA:90652
Spondyloepimetaphyseal Dysplasia, X-Linked
Platyspondyly, Pectus carinatum, Hypoplasia of the odontoid process, Posterior rib cupping, Lumba... OMIM:300106
Rett Syndrome, Congenital Variant
Scoliosis, Kyphosis OMIM:613454
2Q31.1 Microdeletion Syndrome
Short neck, Scoliosis, Kyphosis, Vertebral segmentation defect ORPHA:251014
Pigmented Nodular Adrenocortical Disease, Primary, 1
Kyphosis OMIM:610489
Alexander Disease
Kyphosis, Short neck, Scoliosis, Hyperlordosis ORPHA:58
Marden-Walker Syndrome
Pectus carinatum, Abnormal form of the vertebral bodies, Pectus excavatum, Scoliosis, Kyphosis ORPHA:2461
Occipital Horn Syndrome
Platyspondyly, Pectus carinatum, Narrow chest, Aplastic clavicle, Down-sloping shoulders, Pectus ... ORPHA:198
Camptodactyly Syndrome, Guadalajara Type 3
Spina bifida occulta, Short neck, Abnormal rib morphology ORPHA:488434
Cardiofacioneurodevelopmental Syndrome
Kyphosis OMIM:619123
Intellectual Developmental Disorder, X-Linked 112
Scoliosis, Kyphosis, Kyphoscoliosis OMIM:301111
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Pectus excavatum, Scoliosis, Abnormality of the cervical spine, Kyphosis ORPHA:464311
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome
Asymmetry of the thorax, Lumbar hyperlordosis, Kyphosis, Kyphoscoliosis ORPHA:457359
Intellectual Developmental Disorder, Autosomal Dominant 73
Narrow chest, Lumbar hyperlordosis, Thoracolumbar scoliosis, Hyperlordosis, Scoliosis, Kyphosis OMIM:620450
Neurofacioskeletal Syndrome With Or Without Renal Agenesis
Pectus excavatum, Short neck, Scoliosis, Kyphosis OMIM:619194
Hajdu-Cheney Syndrome
Pectus carinatum, Hypoplastic 5th lumbar vertebrae, Biconcave vertebral bodies, Short neck, Scoli... ORPHA:955
X-Linked Intellectual Disability, Snyder Type
Pectus carinatum, Pectus excavatum, Kyphosis, Kyphoscoliosis ORPHA:3063
Robinow Syndrome, Autosomal Dominant 3
Short neck, Scoliosis, Kyphosis, Sacral dimple OMIM:616894
Intellectual Developmental Disorder, Autosomal Dominant 57
Scoliosis, Kyphosis OMIM:618050
Dyrk1A-Related Intellectual Disability Syndrome
Pectus excavatum, Scoliosis, Abnormality of the cervical spine, Kyphosis ORPHA:464306
Mucopolysaccharidosis Type 3
Scoliosis, Abnormal clavicle morphology, Abnormal form of the vertebral bodies, Abnormal rib morp... ORPHA:581
Dextrocardia
Abnormal rib morphology ORPHA:1666
Magel2-Related Prader-Willi-Like Syndrome
Scoliosis, Kyphosis ORPHA:398069
Zttk Syndrome
Cervical ribs, Rib fusion, Hemivertebrae, Scoliosis, Kyphosis OMIM:617140
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation
Kyphosis, Scoliosis, Hyperlordosis OMIM:617011
Congenital Disorder Of Glycosylation, Type Ia
Kyphosis OMIM:212065
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia
Scoliosis, Kyphosis OMIM:619005
Mucolipidosis Type Ii
Narrow chest, Restricted chest movement, Kyphosis ORPHA:576
Monosomy 9P
Short neck, Scoliosis, Abnormality of the vertebral column, Abnormal rib morphology ORPHA:261112
Koolen-De Vries Syndrome Due To A Point Mutation
Pectus carinatum, Cervical spinal canal stenosis, Spondylolisthesis, Hyperlordosis, Pectus excava... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Pectus carinatum, Cervical spinal canal stenosis, Spondylolisthesis, Hyperlordosis, Pectus excava... ORPHA:363958
Atelis Syndrome 2
Kyphosis, Sacral dimple OMIM:620185
Prader-Willi Syndrome
Scoliosis, Kyphosis OMIM:176270
Myhre Syndrome
Platyspondyly, Abnormal rib morphology ORPHA:2588
Triosephosphate Isomerase Deficiency
Kyphosis OMIM:615512
Ramon Syndrome
Scoliosis, Kyphosis OMIM:266270
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Abnormal vertebral morphology, Narrow chest, Hypoplastic scapulae, Abnormal rib morphology, Scoli... ORPHA:95699
Gastrointestinal Defects And Immunodeficiency Syndrome 2
Kyphosis OMIM:619708
Smith-Lemli-Opitz Syndrome
Abnormal form of the vertebral bodies, Short neck, Abnormal rib morphology, Scoliosis, Kyphosis ORPHA:818
Coffin-Lowry Syndrome
Pectus carinatum, Bifid sternum, Lumbar kyphosis, Pectus excavatum, Scoliosis, Kyphosis OMIM:303600
Simpson-Golabi-Behmel Syndrome
Vertebral segmentation defect, Short neck, Vertebral fusion, Abnormal rib morphology, Pectus exca... ORPHA:373
Wolf-Hirschhorn Syndrome
Abnormal form of the vertebral bodies, Rib segmentation abnormalities, Rib fusion, Abnormal stern... OMIM:194190
Lymphedema-Distichiasis Syndrome
Kyphosis OMIM:153400
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction
Scoliosis, Kyphosis OMIM:619482
Stickler Syndrome
Platyspondyly, Pectus carinatum, Abnormal form of the vertebral bodies, Spinal canal stenosis, Sp... ORPHA:828
1P36 Deletion Syndrome
11 pairs of ribs, Rib fusion, Bifid ribs, Scoliosis, Spinal canal stenosis, Kyphosis ORPHA:1606
Aspartylglucosaminuria
Platyspondyly, Spondylolysis, Spondylolisthesis, Beaking of vertebral bodies, Scoliosis, Kyphosis OMIM:208400
Ulbright-Hodes Syndrome
Thin ribs, Short ribs, Short sternum, Short neck, Ovoid thoracolumbar vertebrae, Abnormal rib mor... ORPHA:3404
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Lumbar hyperlordosis, Kyphosis ORPHA:2232
Lenz-Majewski Hyperostotic Dwarfism
Aplastic clavicle, Scoliosis, Kyphosis ORPHA:2658
Vater/Vacterl Association
Abnormal vertebral morphology, Scoliosis, Abnormal sternum morphology, Abnormal rib morphology OMIM:192350
Trisomy 18
Abnormal rib morphology ORPHA:3380
Cowden Syndrome
Pectus excavatum, Scoliosis, Kyphosis ORPHA:201
Oculocerebrorenal Syndrome Of Lowe
Platyspondyly, Scoliosis, Kyphosis, Abnormal rib morphology ORPHA:534
Marfan Syndrome
Pectus carinatum, Spondylolisthesis, Pectus excavatum, Scoliosis, Kyphosis ORPHA:558
Camurati-Engelmann Disease
Kyphosis, Abnormality of the vertebral column, Scoliosis, Hyperlordosis ORPHA:1328
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Pectus excavatum, Scoliosis, Kyphosis, Sacral dimple ORPHA:268261
Autosomal Recessive Spastic Paraplegia Type 35
Kyphosis ORPHA:171629
Alstrom Syndrome
Scoliosis, Kyphosis OMIM:203800
Simpson-Golabi-Behmel Syndrome, Type 1
Pectus carinatum, Cervical ribs, Short ribs, Vertebral segmentation defect, Short sternum, Six lu... OMIM:312870
Hereditary Acrokeratotic Poikiloderma
Abnormal rib morphology ORPHA:2907
Turner Syndrome Due To Structural X Chromosome Anomalies
Short sternum, Short neck, Pectus excavatum, Shield chest, Scoliosis, Kyphosis, Enlarged thorax ORPHA:99413
Turner Syndrome
Short sternum, Short neck, Pectus excavatum, Shield chest, Scoliosis, Kyphosis, Enlarged thorax ORPHA:881
Mosaic Monosomy X
Short sternum, Short neck, Pectus excavatum, Shield chest, Scoliosis, Kyphosis, Enlarged thorax ORPHA:99228
Monosomy X
Short sternum, Short neck, Pectus excavatum, Shield chest, Scoliosis, Kyphosis, Enlarged thorax ORPHA:99226
Alagille Syndrome 1
Butterfly vertebral arch, Hemivertebrae, Abnormal rib morphology OMIM:118450
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Scoliosis, Kyphosis, Kyphoscoliosis OMIM:300967
Mend Syndrome
Kyphosis, Sacral dimple ORPHA:401973
Mend Syndrome
Kyphosis, Sacral dimple OMIM:300960
Cockayne Syndrome Type 3
Scoliosis, Kyphosis ORPHA:90324
Pagod Syndrome
Abnormal clavicle morphology, Abnormal rib morphology ORPHA:991
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Abnormal curvature of the vertebral column, Scoliosis, Kyphosis, Back pain OMIM:619475
Ear-Patella-Short Stature Syndrome
Aplastic clavicle, Abnormal rib morphology ORPHA:2554
Wrinkly Skin Syndrome
Pectus excavatum, Scoliosis, Kyphosis, Scapular winging OMIM:278250
Cockayne Syndrome B
Kyphosis OMIM:133540
Cockayne Syndrome A
Kyphosis OMIM:216400
Cockayne Syndrome
Scoliosis, Kyphosis ORPHA:191
Autosomal Recessive Malignant Osteopetrosis
Narrow chest, Abnormal rib morphology ORPHA:667
Williams Syndrome
Abnormal form of the vertebral bodies, Down-sloping shoulders, Vertebral segmentation defect, Hyp... ORPHA:904
Charge Syndrome
Scoliosis, Hemivertebrae, Abnormal rib morphology ORPHA:138
Coffin-Siris Syndrome 1
Short sternum, Spina bifida occulta, Scoliosis, Kyphosis, Sacral dimple OMIM:135900
Lowe Oculocerebrorenal Syndrome
Platyspondyly, Scoliosis, Kyphosis OMIM:309000
Kindler Epidermolysis Bullosa
Abnormal rib morphology ORPHA:2908
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Abnormal vertebral morphology, Abnormality of the vertebral column, Platyspondyly, Kyphosis ORPHA:2273
Proteus Syndrome
Asymmetry of the thorax, Rib exostoses, Abnormal form of the vertebral bodies, Scoliosis, Kyphosis ORPHA:744
Somatomammotropinoma
Spinal canal stenosis, Kyphosis ORPHA:314769
Acromegaly
Spinal canal stenosis, Kyphosis ORPHA:963
Neurofibromatosis Type 1
Scoliosis, Kyphosis ORPHA:636
Viss Syndrome
Pectus carinatum, Butterfly vertebrae, Pectus excavatum, Scoliosis, Kyphosis OMIM:619472
Primrose Syndrome
Narrow chest, Kyphosis, Pectus excavatum, Posterior scalloping of vertebral bodies, Irregular ver... OMIM:259050
Fraser Syndrome
Vertebral segmentation defect, Abnormal rib morphology ORPHA:2052
17Q11 Microdeletion Syndrome
Abnormality of the vertebral column, Scoliosis, Kyphosis, Beaking of vertebral bodies T12-L3 ORPHA:97685
Charge Syndrome
Down-sloping shoulders, Scoliosis, Hemivertebrae, Abnormal rib morphology OMIM:214800
Sotos Syndrome
Abnormal vertebral morphology, Pectus excavatum, Scoliosis, Kyphosis, Sacrococcygeal teratoma ORPHA:821
Yunis-Varon Syndrome
Aplastic clavicle, Hypoplastic scapulae, Kyphosis, Anterior concavity of thoracic vertebrae, Down... OMIM:216340
Townes-Brocks Syndrome
Abnormal vertebral morphology, Abnormal rib morphology ORPHA:857
Branchiooculofacial Syndrome
Short neck, Kyphosis, Hyperlordosis OMIM:113620
Alström Syndrome
Lumbar scoliosis, Kyphosis, Thoracic 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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