Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
hes family bHLH transcription factor 7
Synonyms:
bHLHb37

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 Hes7 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.

The table below shows human diseases associated to Hes7 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Spondylocostal Dysostosis 4, Autosomal Recessive
Short thorax, Rib fusion, Hemivertebrae, Vertebral fusion, Abnormality of the odontoid process, M... OMIM:613686
Autosomal Recessive Spondylocostal Dysostosis
Scoliosis, Camptodactyly of finger, Short thorax, Abnormal form of the vertebral bodies, Kyphosis... ORPHA:2311

The table below shows human diseases predicted to be associated to Hes7 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Cervical Vertebral Bridge
Abnormality of the vertebral column OMIM:118000
Sacral Agenesis With Vertebral Anomalies
Absence of the sacrum, Abnormal vertebral morphology OMIM:615709
Familial Scheuermann Disease
Kyphosis, Abnormal form of the vertebral bodies ORPHA:3135
Cervical Vertebral Dysplasia
Cervical vertebral facet hypoplasia, Cervical vertebral dysplasia, Anterior atlanto-occipital dis... OMIM:118005
Spondylocostal Dysostosis 3, Autosomal Recessive
Scoliosis, Supernumerary vertebral ossification centers, Kyphosis, Rib fusion, Vertebral segmenta... OMIM:609813
Spondylocostal Dysostosis 2, Autosomal Recessive
Rib fusion, Hemivertebrae, Short neck, Vertebral segmentation defect, Vertebral clefting OMIM:608681
Spondylocostal Dysostosis 1, Autosomal Recessive
Back pain, Rib fusion, Hemivertebrae, Vertebral fusion, Abnormality of the odontoid process, Kyph... OMIM:277300
Scoliosis, Isolated, Susceptibility To, 1
Scoliosis OMIM:181800
Scheuermann Disease
Kyphosis, Morbus Scheuermann OMIM:181440
Spondylocostal Dysostosis 5
Scoliosis, Posterior rib fusion, Low back pain, Pectus carinatum, Supernumerary ribs, Hemivertebr... OMIM:122600
Spondylocostal Dysostosis 4, Autosomal Recessive
Short thorax, Rib fusion, Hemivertebrae, Vertebral fusion, Abnormality of the odontoid process, M... OMIM:613686
Autosomal Dominant Brachyolmia
Platyspondyly, Increased vertebral height, Kyphoscoliosis ORPHA:93304
Mental Retardation, X-Linked 82
Scoliosis, Kyphosis OMIM:300518
Spondylocostal Dysostosis 6, Autosomal Recessive
Scoliosis, Hemivertebrae, Cervical kyphosis, Spinal canal stenosis, Butterfly vertebrae OMIM:616566
Chondrocalcinosis Due To Apatite Crystal Deposition
Costal cartilage calcification, Chondrocalcinosis, Osteoarthritis of the small joints of the hand... OMIM:118610
Autosomal Dominant Spondylocostal Dysostosis
Scoliosis, Hyperlordosis, Short thorax, Posterior rib fusion, Missing ribs, Spina bifida occulta,... ORPHA:1797
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis
Thoracolumbar kyphosis, Kyphoscoliosis OMIM:236660
Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome
Tarsal synostosis, Abnormal form of the vertebral bodies, Posterior fusion of lumbosacral vertebr... ORPHA:2064
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Scoliosis, Radioulnar synostosis, Pectus carinatum, Abnormality of the elbow, Abnormality of the ... ORPHA:3268
Cervical Rib
Cervical ribs OMIM:117900
Microcephaly With Cervical Spine Fusion Anomalies
Vertebral fusion, Spinal instability OMIM:251250
Brachyolmia, Maroteaux Type
Scoliosis, Platyspondyly, Short thorax, Abnormal form of the vertebral bodies, Pectus excavatum ORPHA:93302
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type
Scoliosis, Platyspondyly, Genu valgum, Decreased hip abduction, Pectus carinatum, Thoracic kyphos... OMIM:609223
Diaphanospondylodysostosis
Short thorax, Enlarged thorax, Absent or minimally ossified vertebral bodies, Abnormal vertebral ... ORPHA:66637
Spondyloepiphyseal Dysplasia, Stanescu Type
Beaking of vertebral bodies, Platyspondyly, Kyphoscoliosis OMIM:616583
Dextrocardia With Unusual Facies And Microphthalmia
Vertebral fusion, Supernumerary ribs, Vertebral segmentation defect OMIM:221950
Vertebral Fusion, Posterior Lumbosacral, With Blepharoptosis
Posterior fusion of lumbosacral vertebrae OMIM:192800
Spinal Muscular Atrophy, Ryukyuan Type
Kyphoscoliosis OMIM:271200
Poland Syndrome
Sprengel anomaly, Rib fusion, Short ribs, Hemivertebrae OMIM:173800
Vertebral Hypoplasia With Lumbar Kyphosis
Vertebral hypoplasia, Lumbar kyphosis OMIM:192900
Neurogenic Thoracic Outlet Syndrome
Abnormality of the ribs ORPHA:100073
Ankylosing Vertebral Hyperostosis With Tylosis
Vertebral hyperostosis OMIM:106400
Intellectual Developmental Disorder, X-Linked 19
Scoliosis, Kyphoscoliosis OMIM:300844
Primary Basilar Invagination
Abnormality of the cervical spine, Short neck, Abnormal vertebral morphology ORPHA:2285
Klippel-Feil Syndrome 3, Autosomal Dominant
Cervical C5/C6 vertebrae fusion, Cervical C3/C4 vertebral fusion, Thoracic scoliosis OMIM:613702
Brachyolmia Type 1, Hobaek Type
Scoliosis, Short neck, Pectus carinatum, Kyphosis, Back pain, Flat acetabular roof, Intervertebra... OMIM:271530
Sprengel Deformity
Scoliosis, Cervical segmentation defect, Sprengel anomaly, Hemivertebrae, Spina bifida occulta, R... OMIM:184400
Becker Nevus Syndrome
Scoliosis, Pectus carinatum, Kyphosis, Pectus excavatum, Rib fusion, Spina bifida occulta, Supern... ORPHA:64755
Ichthyosis--Cheek--Eyebrow Syndrome
Kyphoscoliosis OMIM:146720
Parastremmatic Dwarfism
Scoliosis, Kyphosis, Short neck OMIM:168400
Isolated Klippel-Feil Syndrome
Scoliosis, Spina bifida, Abnormality of the vertebral column, Sprengel anomaly, Cervical C2/C3 ve... ORPHA:2345
Spondylometaphyseal Dysplasia, Corner Fracture Type
Scoliosis, Pectus carinatum, Ovoid vertebral bodies, Genu varum, Hyperconvex vertebral body endpl... OMIM:184255
Osteomesopyknosis
Scoliosis, Sclerotic vertebral body, Kyphosis, Abnormal form of the vertebral bodies ORPHA:2777
Brachyolmia Type 1, Toledo Type
Back pain, Irregular vertebral endplates, Intervertebral space narrowing, Kyphoscoliosis, Squared... OMIM:271630
Kyphomelic Dysplasia
Anterior rib cupping, Lateral clavicle hook, Short thorax, Narrow chest, Abnormal form of the ver... ORPHA:1801
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A
Scoliosis, Multiple pterygia, Craniosynostosis, Arthrogryposis multiplex congenita, Tarsal synost... OMIM:178110
Multiple Synostoses Syndrome 2
Humeroradial synostosis, Tarsal synostosis, Proximal symphalangism, Vertebral fusion, Finger symp... OMIM:610017
Spondylometaphyseal Dysplasia, A4 Type
Platyspondyly, Limitation of joint mobility, Flared, irregular rib ends ORPHA:168555
Endosteal Hyperostosis, Worth Type
Sclerotic vertebral body, Abnormal form of the vertebral bodies, Generalized osteosclerosis, Clav... ORPHA:2790
Cervical Hypertrichosis With Underlying Kyphoscoliosis
Kyphoscoliosis OMIM:117850
Autosomal Recessive Spondylocostal Dysostosis
Scoliosis, Camptodactyly of finger, Short thorax, Abnormal form of the vertebral bodies, Kyphosis... ORPHA:2311
Cerebrofaciothoracic Dysplasia
Scoliosis, Narrow chest, Sprengel anomaly, Rib fusion, Hemivertebrae, Short neck, Vertebral segme... ORPHA:1394
Acromesomelic Dysplasia, Maroteaux Type
Scoliosis, Hyperlordosis, Abnormal form of the vertebral bodies, Beaking of vertebral bodies, Joi... ORPHA:40
Spondyloepiphyseal Dysplasia Tarda, Kohn Type
Abnormality of the knee, Platyspondyly, Abnormal vertebral morphology, Restricted large joint mov... ORPHA:163665
Spondylocamptodactyly Syndrome
Scoliosis, Platyspondyly ORPHA:3180
Osteoarthritis With Mild Chondrodysplasia
Platyspondyly, Beaking of vertebral bodies, Hip osteoarthritis, Irregular vertebral endplates, Jo... OMIM:604864
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Vertebral fusion, Short thorax, Vertebral segmentation defect, Sacral dimple OMIM:618845
Heart Defects-Limb Shortening Syndrome
Accelerated skeletal maturation, Narrow chest, Abnormal form of the vertebral bodies, Kyphosis, A... ORPHA:1354
Basal Cell Nevus Syndrome
Scoliosis, Irregular ossification of hand bones, Spina bifida, Abnormal sternum morphology, Spren... OMIM:109400
Spondylometaphyseal Dysplasia, Type A4
Platyspondyly, Pectus carinatum, Ovoid vertebral bodies, Osteoporotic tarsals, Irregular patellae... OMIM:609052
Cataract, Microcephaly, Failure To Thrive, Kyphoscoliosis Syndrome
Kyphoscoliosis OMIM:212540
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Kyphoscoliosis OMIM:619099
Osteogenesis Imperfecta, Type Ix
Scoliosis, Platyspondyly, Wormian bones, Pectus carinatum, Kyphosis, Decreased calvarial ossifica... OMIM:259440
Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes
Platyspondyly, Lumbar scoliosis, Irregular vertebral endplates, Kyphoscoliosis OMIM:612847
Spondyloepiphyseal Dysplasia, Kimberley Type
Platyspondyly, Genu valgum, Delayed skeletal maturation, Genu varum OMIM:608361
Klippel-Feil Syndrome 2, Autosomal Recessive
Scoliosis, Sprengel anomaly, Cervical C2/C3 vertebral fusion, Short neck, Fused cervical vertebrae OMIM:214300
Kbg Syndrome
Thoracic kyphosis, Rib fusion, Vertebral fusion, Cervical ribs, Delayed skeletal maturation, Vert... OMIM:148050
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Superior rib anomalies, Abnormality of the cervical spine OMIM:307500
You-Hoover-Fong Syndrome
Kyphoscoliosis OMIM:616954
Spondylometaphyseal Dysplasia, X-Linked
Platyspondyly, Enlarged joints, Pectus carinatum, Kyphosis, Thoracolumbar scoliosis, Knee flexion... OMIM:313420
Acrodysplasia Scoliosis
Scoliosis, Vertebral segmentation defect, Spina bifida occulta ORPHA:2956
Brachyolmia Type 2
Platyspondyly OMIM:613678
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome
Abnormality of the ribs ORPHA:2435
Pyle Disease
Scoliosis, Platyspondyly, Genu valgum, Limited elbow extension, Abnormal thorax morphology, Reduc... OMIM:265900
Orofaciodigital Syndrome Xi
Hypoplasia of the odontoid process, Kyphoscoliosis OMIM:612913
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B
Scoliosis, Tarsal synostosis, Flexion contracture, Fused thoracic vertebrae, Antecubital pterygiu... OMIM:618469
Femoral-Facial Syndrome
Scoliosis, Radioulnar synostosis, Sprengel anomaly, Rib fusion, Abnormality of the ribs, Vertebra... ORPHA:1988
Bruck Syndrome 1
Osteoporosis, Platyspondyly, Scoliosis, Protrusio acetabuli, Joint laxity, Pectus carinatum, Kyph... OMIM:259450
Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant
Platyspondyly, Pectus carinatum, Barrel-shaped chest, Knee pain, Irregular vertebral endplates, L... OMIM:184100
Spondyloepiphyseal Dysplasia, Kimberley Type
Platyspondyly, Short thorax, Osteoarthritis ORPHA:93283
Aphalangia, Partial, With Syndactyly And Duplication Of Metatarsal Iv
Kyphoscoliosis OMIM:600384
Horizontal Gaze Palsy With Progressive Scoliosis
Scoliosis, Kyphosis, Short neck ORPHA:2744
Charcot-Marie-Tooth Disease, Axonal, Type 2X
Kyphoscoliosis OMIM:616668
Dysspondyloenchondromatosis
Scoliosis, Genu valgum, Platyspondyly, Enlarged joints, Anisospondyly, Generalized joint laxity, ... ORPHA:85198
Metatropic Dysplasia
Scoliosis, Platyspondyly, Arthrogryposis multiplex congenita, Anisospondyly, Long coccyx, Abnorma... OMIM:156530
Metatropic Dysplasia
Scoliosis, Camptodactyly of finger, Hypoplastic cervical vertebrae, Abnormal enchondral ossificat... ORPHA:2635
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Scoliosis, Supernumerary vertebrae, Rib fusion, Short ribs, Hemivertebrae, Vertebral fusion, Thin... OMIM:271520
Spondyloepiphyseal Dysplasia, Maroteaux Type
Platyspondyly OMIM:184095
Spondyloepimetaphyseal Dysplasia, Di Rocco Type
Irregular acetabular roof, Platyspondyly, Genu varum, Delayed ossification of carpal bones OMIM:617974
Spondyloepiphyseal Dysplasia Tarda With Mental Retardation
Anterior beaking of lumbar vertebrae, Platyspondyly OMIM:271620
Epiphyseal Dysplasia, Multiple, 7
Platyspondyly, Flat acetabular roof, Genu varum, Advanced ossification of carpal bones, Vertebral... OMIM:617719
Spondylometaphyseal Dysplasia, Axial
Anterior rib cupping, Platyspondyly, Thoracic hypoplasia OMIM:602271
Spondylometaphyseal Dysplasia, Kozlowski Type
Irregular acetabular roof, Platyspondyly, Enlarged joints, Pectus carinatum, Carpal bone hypoplas... OMIM:184252
Atelosteogenesis, Type Ii
Scoliosis, Platyspondyly, Stillbirth, Coronal cleft vertebrae, Thoracic hypoplasia, Death in infa... OMIM:256050
Greenberg Dysplasia
Platyspondyly, Abnormal bone ossification, Narrow chest, Abnormal form of the vertebral bodies, A... ORPHA:1426
Brachydactylous Dwarfism, Mseleni Type
Platyspondyly, Osteoarthritis of the elbow, Protrusio acetabuli, Stiff shoulders, Hip osteoarthri... ORPHA:2619
Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures
Kyphoscoliosis OMIM:617977
Second Metatarsal-Metacarpal Syndrome
Platyspondyly, Synostosis of carpals/tarsals OMIM:269630
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome
Scoliosis, Fused cervical vertebrae, Abnormal sacrum morphology, Thoracic hemivertebrae ORPHA:1436
Vater-Like Defects With Pulmonary Hypertension, Laryngeal Webs, And Growth Deficiency
Abnormal rib cage morphology, Pectus excavatum, Posterior rib fusion, Hemivertebrae OMIM:608406
Progressive Pseudorheumatoid Arthropathy Of Childhood
Scoliosis, Irregularity of vertebral bodies, Abnormal hip joint morphology, Enlarged interphalang... ORPHA:1159
Thanatophoric Dysplasia, Type Ii
Platyspondyly, Narrow chest, Wide-cupped costochondral junctions, Short ribs, Neonatal death, Sma... OMIM:187601
Osteogenesis Imperfecta, Type Xix
Scoliosis, Biconcave vertebral bodies, Pectus carinatum, Pectus excavatum, Recurrent fractures, O... OMIM:301014
Spondyloepimetaphyseal Dysplasia, Irapa Type
Hypoplastic sacrum, Limited elbow extension, Genu valgum, Platyspondyly, Pectus carinatum, Capita... OMIM:271650
Mesomelic Dysplasia, Kantaputra Type
Cubitus valgus, Camptodactyly of finger, Tarsal synostosis, Synostosis of carpal bones, Abnormali... ORPHA:1836
Becker Nevus Syndrome
Scoliosis, Pectus excavatum, Cervical ribs, Hemivertebrae OMIM:604919
Kuskokwim Syndrome
Scoliosis, Abnormal clavicle morphology, Abnormal form of the vertebral bodies, Aplasia/Hypoplasi... ORPHA:1149
Galactosialidosis
Abnormality of the vertebral column, Abnormal vertebral morphology ORPHA:351
Thoracolaryngopelvic Dysplasia
Scoliosis, Horizontal ribs, Irregular vertebral endplates, Short ribs, Bell-shaped thorax, Irregu... OMIM:187760
Aicardi Syndrome
Scoliosis, Spina bifida, Bifid ribs, Rib fusion, Hemivertebrae, Block vertebrae, Supernumerary ri... OMIM:304050
Spondyloepiphyseal Dysplasia Tarda
Scoliosis, Limited wrist movement, Localized osteoporosis, Joint swelling, Thoracic kyphosis, Abn... ORPHA:93284
Osteogenesis Imperfecta, Type Xv
Scoliosis, Platyspondyly, Joint hypermobility, Recurrent fractures, Thin ribs, Bowing of limbs du... OMIM:615220
Acropectorovertebral Dysplasia
Spina bifida occulta at L5, Abnormal vertebral morphology, Synostosis of carpal bones, Abnormal t... OMIM:102510
Cardiospondylocarpofacial Syndrome
Scoliosis, Tarsal synostosis, Joint laxity, Synostosis of carpals/tarsals, Rib fusion, Carpal syn... OMIM:157800
Osteogenesis Imperfecta, Type Xiii
Scoliosis, Joint hypermobility, Osteoporosis, Wormian bones, Dislocated radial head, Platyspondyl... OMIM:614856
Maternal Uniparental Disomy Of Chromosome 9
Short neck, Abnormal vertebral morphology, Kyphoscoliosis ORPHA:96183
Spondylocamptodactyly
Scoliosis, Camptodactyly of finger, Camptodactyly, Cervical platyspondyly OMIM:600000
Klippel-Feil Syndrome 1, Autosomal Dominant
Scoliosis, Sprengel anomaly, Cervical C2/C3 vertebral fusion, Abnormal vertebral segmentation and... OMIM:118100
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Hyperlordosis, Abnormal clavicle morphology, Kyphosis, Pectus excavatum, Abnormality of the ribs,... ORPHA:2522
Pseudoachondroplasia
Scoliosis, Irregular carpal bones, Joint laxity, Flat acetabular roof, Joint stiffness, Acetabula... ORPHA:750
Spondyloepimetaphyseal Dysplasia With Joint Laxity
Scoliosis, Limited elbow extension, Dislocated radial head, Platyspondyly, Joint laxity, Abnormal... ORPHA:93359
Mental Retardation, Skeletal Dysplasia, And Abducens Palsy
Scoliosis, Fused cervical vertebrae, Prominent metopic ridge, Thoracic hemivertebrae OMIM:309620
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3
Scoliosis, Dislocated radial head, Multiple joint dislocation, Platyspondyly, Joint laxity, Carpa... OMIM:618395
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods
Fusion of midcervical facet joints, Widening of cervical spinal canal, Cervical vertebral bodies ... OMIM:606842
Multiple Pterygium Syndrome, X-Linked
Multiple pterygia, Flexion contracture, Vertebral fusion, Abnormal cervical curvature, Thin ribs,... OMIM:312150
Pseudodiastrophic Dysplasia
Scoliosis, Platyspondyly, Phalangeal dislocation, Elbow dislocation ORPHA:85174
Morquio Syndrome C
Platyspondyly OMIM:252300
Developmental And Speech Delay Due To Sox5 Deficiency
Scoliosis, Thoracic kyphoscoliosis, Pectus carinatum, Lumbar hyperlordosis, Vertebral fusion, But... ORPHA:313892
Spondyloepimetaphyseal Dysplasia, Handigodu Type
Abnormality of the knee, Platyspondyly, Hip subluxation, Protrusio acetabuli, Abnormality of the ... ORPHA:99642
Czech Dysplasia
Scoliosis, Platyspondyly, Thoracic kyphosis, Flexion contracture, Irregular vertebral endplates, ... OMIM:609162
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type
Limited elbow extension, Platyspondyly, Thoracic hypoplasia, Ovoid vertebral bodies, Lumbar hyper... OMIM:608728
Craniofacial Dysmorphism, Skeletal Anomalies, And Mental Retardation Syndrome
Scoliosis, Joint hypermobility, Craniosynostosis, Narrow chest, Beaking of vertebral bodies, Rib ... OMIM:213980
Epiphyseal Dysplasia, Multiple, With Severe Proximal Femoral Dysplasia
Platyspondyly, Irregularity of vertebral bodies, Genu valgum OMIM:609324
Seckel Syndrome 8
Kyphoscoliosis OMIM:615807
Spondylometaphyseal Dysplasia, Schmidt Type
Platyspondyly, Kyphoscoliosis ORPHA:93316
Brachydactyly, Type B1
Hypoplastic sacrum, Camptodactyly, Hemivertebrae, Vertebral fusion, Delayed cranial suture closur... OMIM:113000
Spondyloepiphyseal Dysplasia Tarda, X-Linked
Scoliosis, Platyspondyly, Shield chest, Hip osteoarthritis, Barrel-shaped chest, Kyphosis, Lumbar... OMIM:313400
Multiple Pterygium Syndrome, Lethal Type
Multiple pterygia, Flexion contracture, Vertebral fusion, Abnormal cervical curvature, Thin ribs,... OMIM:253290
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type
Scoliosis, Platyspondyly, Genu varum OMIM:618728
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2
Abnormality of the ribs, Short neck, Vertebral segmentation defect ORPHA:2578
Osteogenesis Imperfecta, Type V
Joint hypermobility, Wormian bones, Platyspondyly, Biconcave vertebral bodies, Recurrent fracture... OMIM:610967
Kyphoscoliosis-Lateral Tongue Atrophy-Hereditary Spastic Paraplegia Syndrome
Kyphoscoliosis ORPHA:496689
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Scoliosis, Hyperlordosis, Coronal cleft vertebrae, Abnormal vertebral morphology, Irregular verte... OMIM:618363
Multiple Pterygium Syndrome, Escobar Variant
Scoliosis, Dislocated radial head, Axillary pterygium, Arthrogryposis multiplex congenita, Anteri... OMIM:265000
Spondyloepimetaphyseal Dysplasia, Irapa Type
Osteoporosis, Genu valgum, Platyspondyly, Synostosis of carpal bones, Pectus carinatum, Abnormal ... ORPHA:93351
Kbg Syndrome
Scoliosis, Thoracic kyphosis, Persistent open anterior fontanelle, Vertebral fusion, Cervical rib... ORPHA:2332
Spondylometaphyseal Dysplasia With Corneal Dystrophy
Lumbar platyspondyly, Narrow chest, Beaking of vertebral bodies, Short ribs, Thoracic platyspondy... OMIM:618961
Spondylocostal Dysostosis-Anal Atresia-Genitourinary Malformation Syndrome
Scoliosis, Narrow chest, Rib fusion, Hemivertebrae, Vertebral fusion, 11 pairs of ribs, Short neck ORPHA:94095
Mental Retardation, Autosomal Recessive 39
Kyphoscoliosis OMIM:615541
Spondyloepimetaphyseal Dysplasia, Shohat Type
Vertebral hypoplasia, Platyspondyly, Joint laxity, Central vertebral hypoplasia, Bell-shaped thor... OMIM:602557
Microphthalmia, Syndromic 3
Vertebral hypoplasia, Rib fusion, Hemivertebrae, Vertebral fusion, Supernumerary ribs, Missing ri... OMIM:206900
Axial Spondylometaphyseal Dysplasia
Platyspondyly, Cupped ribs, Delayed skeletal maturation, Thoracic hypoplasia ORPHA:168549
Aicardi Syndrome
Scoliosis, Rib fusion, Block vertebrae, Supernumerary ribs, Missing ribs, Butterfly vertebrae, Bi... ORPHA:50
Ring Chromosome 21 Syndrome
Scoliosis, Abnormal thorax morphology, Fused thoracic vertebrae, Thoracic hemivertebrae ORPHA:1445
Microcephaly-Brachydactyly-Kyphoscoliosis Syndrome
Atlantoaxial abnormality, Kyphoscoliosis ORPHA:3433
Spondyloepimetaphyseal Dysplasia, Strudwick Type
Scoliosis, Genu valgum, Hyperlordosis, Delayed pubic bone ossification, Platyspondyly, Anterior r... OMIM:184250
Verheij Syndrome
Scoliosis, Hemivertebrae, Vertebral fusion, Hip dislocation, Short neck OMIM:615583
Smith-Mccort Dysplasia 1
Scoliosis, Genu valgum, Atlantoaxial instability, Multicentric femoral head ossification, Platysp... OMIM:607326
Osteogenesis Imperfecta, Type Xxi
Scoliosis, Joint hypermobility, Osteoporosis, Wormian bones, Platyspondyly, Pectus excavatum, Rec... OMIM:619131
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Scoliosis, Distal ulnar epiphyseal stippling, Platyspondyly, Beaking of vertebral bodies, Delayed... OMIM:609616
Charcot-Marie-Tooth Disease, Axonal, Type 2B1
Kyphoscoliosis OMIM:605588
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Abnormal clavicle morphology, Platyspondyly, Narrow chest, Decreased skull ossification, Abnormal... ORPHA:93267
Charcot-Marie-Tooth Disease, Axonal, Type 2K
Kyphoscoliosis OMIM:607831
Diastrophic Dysplasia
Cervical kyphosis, Hypoplastic cervical vertebrae, Kyphoscoliosis OMIM:222600
Keratoconus Posticus Circumscriptus
Short neck, Limited elbow extension and supination, Abnormal vertebral segmentation and fusion OMIM:244600
Spondylometaphyseal Dysplasia, Kozlowski Type
Scoliosis, Genu valgum, Platyspondyly, Enlarged joints, Short thorax, Narrow chest, Pectus carina... ORPHA:93314
Polydactyly, Postaxial, With Dental And Vertebral Anomalies
Tarsal synostosis, Narrow chest, Pectus carinatum, Pectus excavatum, Hemivertebrae, Vertebral fus... OMIM:263540
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Scoliosis, Hyperlordosis, Kyphosis, Spinal rigidity, Short neck OMIM:300718
Developmental And Epileptic Encephalopathy 41
Kyphoscoliosis OMIM:617105
Anauxetic Dysplasia 1
Cervical subluxation, Platyspondyly, Short neck, Delayed ossification of carpal bones OMIM:607095
Microcephalic Osteodysplastic Dysplasia, Saul-Wilson Type
Platyspondyly, Irregularity of vertebral bodies, Hypoplasia of the odontoid process ORPHA:85172
Autosomal Recessive Multiple Pterygium Syndrome
Scoliosis, Multiple pterygia, Camptodactyly of finger, Arthrogryposis multiplex congenita, Axilla... ORPHA:2990
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Scoliosis, Hyperlordosis, Kyphosis, Achilles tendon contracture, Vertebral fusion OMIM:606612
Bruck Syndrome 2
Platyspondyly, Wormian bones, Pectus carinatum, Flexion contracture, Pterygium, Increased suscept... OMIM:609220
Mitochondrial Complex I Deficiency, Nuclear Type 8
Kyphoscoliosis OMIM:618230
Multiple Epiphyseal Dysplasia, Beighton Type
Genu valgum, Lumbar platyspondyly, Abnormal hip joint morphology, Biconcave vertebral bodies, Low... ORPHA:166011
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome
Abnormal form of the vertebral bodies, Hemivertebrae, Abnormality of the ribs, Short neck, Abnorm... ORPHA:2234
Myotonia With Skeletal Abnormalities And Mental Retardation
Vertebral wedging, Kyphoscoliosis OMIM:255710
Gm1-Gangliosidosis, Type Iii
Scoliosis, Platyspondyly, Kyphosis, Anterior beaking of lumbar vertebrae, Hypoplastic acetabulae OMIM:230650
Fibrochondrogenesis 2
Platyspondyly, Bell-shaped thorax, Short ribs, Thoracic hypoplasia OMIM:614524
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Osteoporosis, Platyspondyly, Kyphosis ORPHA:2786
Muscular Dystrophy, Congenital Merosin-Deficient, 1A
Kyphoscoliosis OMIM:607855
Nemaline Myopathy 4
Kyphoscoliosis OMIM:609285
Kniest Dysplasia
Platyspondyly, Arthropathy, Enlarged joints, Flexion contracture of finger, Short thorax, Coronal... ORPHA:485
Charcot-Marie-Tooth Disease Type 1A
Kyphoscoliosis ORPHA:101081
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive
Hip osteoarthritis, Platyspondyly, Osteoarthritis OMIM:271600
Lateral Meningocele Syndrome
Scoliosis, Joint hypermobility, Wormian bones, Biconcave vertebral bodies, Kyphosis, Pectus excav... OMIM:130720
Brachyolmia Type 3
Scoliosis, Platyspondyly, Barrel-shaped chest, Kyphosis, Short neck OMIM:113500
Roussy-Levy Hereditary Areflexic Dystasia
Kyphoscoliosis OMIM:180800
Pontine Tegmental Cap Dysplasia
Scoliosis, Rib fusion, Ankle clonus, Hemivertebrae OMIM:614688
Wildervanck Syndrome
Fused cervical vertebrae OMIM:314600
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Disc-like vertebral bodies, Narrow chest, Decreased cranial base ossification, Severe platyspondy... OMIM:151210
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density
Lumbar platyspondyly, Absent ossification of cervical vertebral bodies, Absent ossification of ca... OMIM:601376
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly
Multiple small vertebral fractures, Platyspondyly, Osteoporosis of vertebrae OMIM:156510
Roussy-Lévy Syndrome
Scoliosis, Kyphoscoliosis ORPHA:3115
Parkinson-Dementia Syndrome
Kyphoscoliosis OMIM:260540
Facial Abnormalities, Kyphoscoliosis, And Mental Retardation
Kyphoscoliosis OMIM:227250
Kniest-Like Dysplasia With Pursed Lips And Ectopia Lentis
Platyspondyly, Pectus carinatum, Flexion contracture, Absent ossification of capital femoral epip... OMIM:245160
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Platyspondyly, Vertebral wedging, Short ribs, Thoracic hypoplasia OMIM:617866
Joubert Syndrome 18
Kyphoscoliosis OMIM:614815
Charcot-Marie-Tooth Disease, Type 4K
Kyphoscoliosis OMIM:616684
Pseudoachondroplasia
Scoliosis, Limited elbow extension, Genu valgum, Irregular carpal bones, Limited hip extension, J... OMIM:177170
Vertebral Hypersegmentation And Orofacial Anomalies
Pectus excavatum, Supernumerary ribs, Six lumbar vertebrae, Scapular winging OMIM:619122
Hyperekplexia 4
Kyphoscoliosis OMIM:618011
Gm1-Gangliosidosis, Type Ii
Platyspondyly OMIM:230600
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome
Platyspondyly, Abnormality of the intervertebral disk, Joint stiffness, Avascular necrosis, Osteo... ORPHA:1345
Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant
Platyspondyly, Premature osteoarthritis OMIM:184840
Thanatophoric Dysplasia, Type I
Narrow chest, Wide-cupped costochondral junctions, Severe platyspondyly, Short ribs, Neonatal dea... OMIM:187600
Osteogenesis Imperfecta, Type Vi
Protrusio acetabuli, Joint laxity, Biconcave vertebral bodies, Beaking of vertebral bodies, Incre... OMIM:613982
Rahman Syndrome
Kyphoscoliosis OMIM:617537
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome
Kyphoscoliosis OMIM:612079
Craniofacial Dysostosis With Diaphyseal Hyperplasia
Kyphoscoliosis OMIM:122900
Leukodystrophy, Hypomyelinating, 17
Kyphoscoliosis OMIM:618006
Microphthalmia, Syndromic 13
Kyphoscoliosis OMIM:300915
Progressive Pseudorheumatoid Dysplasia
Osteoporosis, Camptodactyly of finger, Platyspondyly, Enlarged interphalangeal joints, Joint swel... OMIM:208230
White Forelock With Malformations
Joint hyperflexibility, Sprengel anomaly, Spina bifida occulta, Abnormality of the ribs, Delayed ... ORPHA:2475
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome
Scoliosis, Abnormal form of the vertebral bodies, Elbow dislocation, Kyphosis, Hemivertebrae, Ver... ORPHA:2916
Asymmetric Short Stature Syndrome
Lumbar scoliosis, Fused cervical vertebrae OMIM:108450
Lethal Congenital Contracture Syndrome Type 1
Abnormal form of the vertebral bodies, Abnormality of the elbow, Recurrent fractures, Abnormality... ORPHA:1486
Aarskog-Scott Syndrome
Camptodactyly of finger, Genu recurvatum, Joint hyperflexibility, Pectus excavatum, Umbilical her... ORPHA:915
Odontochondrodysplasia
Scoliosis, Platyspondyly, Narrow chest, Joint hyperflexibility, Death in infancy ORPHA:166272
Geroderma Osteodysplastica
Scoliosis, Osteoporosis, Platyspondyly, Abnormal bone ossification, Abnormal form of the vertebra... ORPHA:2078
Osteogenesis Imperfecta, Type Ii
Wormian bones, Platyspondyly, Beaded ribs, Recurrent fractures, Absent ossification of calvaria, ... OMIM:166210
Schneckenbecken Dysplasia
Anterior rib cupping, Lateral clavicle hook, Advanced tarsal ossification, Narrow chest, Stillbir... OMIM:269250
Odontochondrodysplasia 1
Scoliosis, Joint hypermobility, Osteoporosis, Platyspondyly, Biconvex vertebral bodies, Coronal c... OMIM:184260
Leukodystrophy, Hypomyelinating, 3
Kyphoscoliosis OMIM:260600
Thoracic Dysostosis, Isolated
Pectus excavatum, Bell-shaped thorax, Short ribs OMIM:187750
Pseudodiastrophic Dysplasia
Scoliosis, Platyspondyly, Elbow dislocation, Phalangeal dislocation, Camptodactyly, Lumbar hyperl... OMIM:264180
Osteogenesis Imperfecta, Type Xvi
Joint hypermobility, Beaded ribs, Osteopenia, Vertebral compression fracture OMIM:616229
Flynn-Aird Syndrome
Kyphoscoliosis OMIM:136300
Wildervanck Syndrome
Meningocele, Short neck, Fused cervical vertebrae ORPHA:3456
Lethal Kniest-Like Dysplasia
Anterior rib cupping, Platyspondyly, Abnormal cartilage matrix, Wide anterior fontanel, Coronal c... ORPHA:2347
Dyggve-Melchior-Clausen Disease
Atlantoaxial instability, Limited elbow extension, Genu valgum, Platyspondyly, Short thorax, Abno... ORPHA:239
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Scoliosis, Platyspondyly, Ovoid vertebral bodies, Severe platyspondyly, Joint stiffness, Cupped ribs OMIM:608940
Spondyloepimetaphyseal Dysplasia, Missouri Type
Limited elbow extension, Platyspondyly, Irregular sclerotic endplates, Genu varum, Flared, irregu... OMIM:602111
Osteogenesis Imperfecta With Opalescent Teeth, Blue Sclerae And Wormian Bones, But Without Fractures
Wormian bones, Moderate generalized osteoporosis, Biconcave flattened vertebrae, Abnormal joint m... OMIM:166230
Proximal 16P11.2 Microdeletion Syndrome
Scoliosis, Craniosynostosis, Rib fusion, Abnormal vertebral morphology ORPHA:261197
Hypophosphatasia, Infantile
Platyspondyly, Craniosynostosis, Stillbirth, Decreased calvarial ossification, Death in infancy, ... OMIM:241500
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Kyphoscoliosis OMIM:300886
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2
Platyspondyly, Advanced ossification of carpal bones, Joint laxity, Pectus excavatum, Carpal syno... OMIM:615349
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Thin ribs, Platyspondyly, Decreased skull ossification, 11 pairs of ribs OMIM:300863
Mucopolysaccharidosis Type 4
Scoliosis, Genu valgum, Hyperlordosis, Platyspondyly, Short thorax, Pectus carinatum, Joint hyper... ORPHA:582
Mucopolysaccharidosis, Type Iva
Scoliosis, Osteoporosis, Genu valgum, Hyperlordosis, Platyspondyly, Joint laxity, Prominent stern... OMIM:253000
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency
Kyphoscoliosis ORPHA:300179
Robinow Syndrome, Autosomal Recessive 1
Scoliosis, Hypoplastic sacrum, Wide anterior fontanel, Pectus excavatum, Rib fusion, Umbilical he... OMIM:268310
Spondyloepimetaphyseal Dysplasia, Shohat Type
Scoliosis, Hyperlordosis, Platyspondyly, Generalized bone demineralization, Joint laxity, Abnorma... ORPHA:93352
Gorlin Syndrome
Scoliosis, Vertebral wedging, Vertebral fusion, Hemivertebrae ORPHA:377
Spondyloepiphyseal Dysplasia Congenita
Scoliosis, Atlantoaxial instability, Delayed pubic bone ossification, Platyspondyly, Barrel-shape... OMIM:183900
Mayer-Rokitansky-Küster-Hauser Syndrome
Vertebral fusion, Vertebral segmentation defect, Abnormal sacrum morphology, Abnormal form of the... ORPHA:3109
Spondyloepiphyseal Dysplasia, Nishimura Type
Platyspondyly, Abnormal bone ossification, Anisospondyly, Wide anterior fontanel, Narrow chest, T... ORPHA:163649
Ck Syndrome
Lumbar hyperlordosis, Kyphoscoliosis ORPHA:251383
Brown-Vialetto-Van Laere Syndrome 2
Scoliosis, Kyphoscoliosis OMIM:614707
Fibrochondrogenesis 1
Anterior rib cupping, Platyspondyly, Posterior vertebral hypoplasia, Wide anterior fontanel, Stil... OMIM:228520
Dyggve-Melchior-Clausen Disease
Scoliosis, Shield chest, Carpal bone hypoplasia, Thoracic kyphosis, Camptodactyly, Flat acetabula... OMIM:223800
Ullrich Congenital Muscular Dystrophy 2
Kyphoscoliosis OMIM:616470
Cantu Syndrome
Osteoporosis, Platyspondyly, Narrow chest, Ovoid vertebral bodies, Cuboid-shaped vertebral bodies... OMIM:239850
Multiple Epiphyseal Dysplasia Type 5
Multiple small vertebral fractures, Genu valgum, Intervertebral disc degeneration, Abnormal hip j... ORPHA:93311
Frontometaphyseal Dysplasia 1
Scoliosis, Genu valgum, Camptodactyly of finger, Anteriorly placed odontoid process, Scapular win... OMIM:305620
Otopalatodigital Syndrome Type 1
Synostosis of carpal bones, Elbow dislocation, Increased bone mineral density, Abnormal vertebral... ORPHA:90650
Mucopolysaccharidosis, Type Ivb
Scoliosis, Genu valgum, Osteoporosis, Hyperlordosis, Platyspondyly, Joint laxity, Prominent stern... OMIM:253010
Hall-Riggs Mental Retardation Syndrome
Scoliosis, Platyspondyly, Osteoporosis, Kyphosis, Irregular vertebral endplates, Delayed skeletal... OMIM:234250
Dyssegmental Dysplasia With Glaucoma
Platyspondyly, Wide anterior fontanel, Delayed epiphyseal ossification, Hip contracture, Elbow fl... OMIM:601561
Familial Congenital Mirror Movements
Fused cervical vertebrae ORPHA:238722
Congenital Muscular Dystrophy Without Intellectual Disability
Kyphoscoliosis ORPHA:370980
Craniodiaphyseal Dysplasia
Abnormality of the ribs ORPHA:1513
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Scoliosis, Hyperlordosis, Kyphosis, Achilles tendon contracture, Vertebral fusion OMIM:607155
Laryngotracheoesophageal Cleft Type 4
Abnormality of the ribs, Abnormal form of the vertebral bodies ORPHA:93941
Bruck Syndrome
Osteoporosis, Platyspondyly, Wormian bones, Arthrogryposis multiplex congenita, Scoliosis, Kyphos... ORPHA:2771
Charcot-Marie-Tooth Disease, Demyelinating, Type 1A
Kyphoscoliosis OMIM:118220
Scholte Syndrome
Kyphoscoliosis OMIM:300977
Metaphyseal Chondrodysplasia, Schmid Type
Anterior rib cupping, Platyspondyly, Abnormal vertebral morphology, Irregular vertebral endplates... ORPHA:174
Spondyloepiphyseal Dysplasia, Myopia, And Sensorineural Deafness
Lumbar hyperlordosis, Platyspondyly, Short neck OMIM:184000
Richieri Costa-Da Silva Syndrome
Beaking of vertebral bodies, Decreased anterioposterior diameter of lumbar vertebral bodies, Vert... ORPHA:3101
Whistling Face Syndrome, Recessive Form
Short neck, Kyphoscoliosis OMIM:277720
Osteogenesis Imperfecta, Type Xi
Scoliosis, Biconcave vertebral bodies, Kyphoscoliosis, Vertebral wedging, Vertebral compression f... OMIM:610968
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy
Anterior rib cupping, Wormian bones, Platyspondyly, Prominent sternum, Thoracic kyphosis, Flexion... OMIM:300232
Schwartz-Jampel Syndrome, Type 1
Osteoporosis, Shoulder flexion contracture, Platyspondyly, Congenital hip dislocation, Coronal cl... OMIM:255800
Dental Anomalies And Short Stature
Platyspondyly, Herniation of intervertebral nuclei, Intervertebral space narrowing, Narrow verteb... OMIM:601216
Dyggve-Melchior-Clausen Syndrome, X-Linked
Scoliosis, Hypoplastic sacrum, Genu valgum, Platyspondyly, Prominent sternum, Barrel-shaped chest... OMIM:304950
Thanatophoric Dysplasia
Platyspondyly, Short thorax, Narrow chest, Joint hyperflexibility, Kyphosis, Joint stiffness, Abn... ORPHA:2655
Achondrogenesis Type 1B
Short thorax, Abnormal enchondral ossification, Narrow chest, Umbilical hernia, Abnormality of th... ORPHA:93298
Charcot-Marie-Tooth Disease, Type 4B2
Kyphoscoliosis OMIM:604563
Congenital Disorder Of Glycosylation, Type Iik
Kyphoscoliosis OMIM:614727
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Scoliosis, Abnormal form of the vertebral bodies, Sprengel anomaly, Hemivertebrae, Abnormality of... ORPHA:2180
Smith-Mccort Dysplasia 2
Platyspondyly, Genu valgum, Pectus carinatum, Barrel-shaped chest, Short neck, Hypoplasia of the ... OMIM:615222
Caudal Regression Sequence
Scoliosis, Joint stiffness, Abnormal vertebral segmentation and fusion, Hypoplastic vertebral bod... ORPHA:3027
Cole-Carpenter Syndrome 2
Wormian bones, Platyspondyly, Lambdoidal craniosynostosis, Kyphosis, Pectus excavatum, Thin ribs,... OMIM:616294
Ollier Disease
Platyspondyly, Osteolysis, Abnormal cartilage morphology, Bone pain, Multiple enchondromatosis, J... ORPHA:296
Diastrophic Dwarfism
Scoliosis, Camptodactyly of finger, Abnormal clavicle morphology, Hypoplastic cervical vertebrae,... ORPHA:628
Hypertrophic Neuropathy Of Dejerine-Sottas
Kyphoscoliosis OMIM:145900
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
Scoliosis, Hyperlordosis, Ovoid vertebral bodies, Kyphosis, Hypoplasia of the odontoid process ORPHA:93315
Ataxia-Oculomotor Apraxia Type 4
Kyphoscoliosis ORPHA:459033
Juberg-Hayward Syndrome
Scoliosis, Radioulnar synostosis, Abnormal vertebral morphology, Abnormality of the elbow, Abnorm... ORPHA:2319
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia
Lateral clavicle hook, Radioulnar synostosis, Elbow dislocation, Shoulder dislocation, Genu varum... OMIM:171480
Chondroectodermal Dysplasia With Night Blindness
Osteoporosis, Abnormality of the knee, Platyspondyly, Fractures of the long bones, Abnormal patel... ORPHA:319195
Autosomal Recessive Stickler Syndrome
Platyspondyly, Genu valgum, Irregular vertebral endplates, Joint hyperflexibility ORPHA:250984
Mucopolysaccharidosis, Type Vii
Scoliosis, Genu valgum, Thoracolumbar kyphosis, Platyspondyly, Pectus carinatum, Flexion contract... OMIM:253220
Hypertrichotic Osteochondrodysplasia, Cantu Type
Accelerated skeletal maturation, Osteoporosis, Platyspondyly, Broad ribs, Narrow chest, Ovoid ver... ORPHA:1517
Mosaic Trisomy 14
Abnormality of the ribs, Short neck, Narrow chest ORPHA:1703
Alkaptonuria
Intervertebral disc degeneration, Low back pain, Kyphosis, Limited hip movement, Limitation of kn... OMIM:203500
Achondrogenesis, Type Ia
Unossified vertebral bodies, Abnormal hand bone ossification, Stillbirth, Barrel-shaped chest, Hy... OMIM:200600
Spondyloepimetaphyseal Dysplasia With Multiple Dislocations
Scoliosis, Genu valgum, Multiple joint dislocation, Hip subluxation, Thoracolumbar kyphosis, Join... ORPHA:93360
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Lateral clavicle hook, Narrow chest, Bell-shaped thorax, Horizontal ribs, Thoracic dysplasia OMIM:615633
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies
Abnormality of the ribs, Joint hypermobility, Pectus excavatum, Hypoplastic distal segments of sc... OMIM:602196
Spondylocarpotarsal Synostosis Syndrome
Scoliosis, Hyperlordosis, Limited elbow extension, Scapular winging, Tarsal synostosis, Pectus ca... OMIM:272460
Spondyloepiphyseal Dysplasia Congenita
Scoliosis, Genu valgum, Osteoporosis, Platyspondyly, Barrel-shaped chest, Kyphosis, Knee pain, Ba... ORPHA:94068
Osteogenesis Imperfecta, Type Viii
Scoliosis, Wormian bones, Platyspondyly, Joint laxity, Wide anterior fontanel, Kyphosis, Recurren... OMIM:610915
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Thin ribs, Platyspondyly, Death in infancy ORPHA:163966
Septopreoptic Holoprosencephaly
Abnormality of the ribs, Abnormal vertebral morphology ORPHA:280195
Charcot-Marie-Tooth Disease Type 4D
Kyphoscoliosis ORPHA:99950
Phaver Syndrome
Camptodactyly of finger, Radioulnar synostosis, Abnormal form of the vertebral bodies, Pterygium,... ORPHA:2876
Saul-Wilson Syndrome
Pectus carinatum, Platyspondyly, Pectus excavatum, Wide anterior fontanel OMIM:618150
Osteogenesis Imperfecta, Type Xviii
Joint hypermobility, Wormian bones, Joint laxity, Biconcave vertebral bodies, Recurrent fractures... OMIM:617952
Rhizomelic Dysplasia, Scoliosis, And Retinitis Pigmentosa
Scoliosis, Broad ribs, Biconcave vertebral bodies, Short ribs, Short clavicles, Short neck OMIM:610319
Spondyloperipheral Dysplasia-Short Ulna Syndrome
Limited elbow extension, Delayed pubic bone ossification, Platyspondyly, Abnormal hip joint morph... ORPHA:1856
Kniest Dysplasia
Platyspondyly, Enlarged joints, Coronal cleft vertebrae, Umbilical hernia, Abnormal cartilage col... OMIM:156550
Osteogenesis Imperfecta, Type X
Scoliosis, Genu valgum, Platyspondyly, Joint laxity, Narrow chest, Generalized joint laxity, Broa... OMIM:613848
Spondylo-Ocular Syndrome
Osteoporosis, Platyspondyly, Thoracic kyphosis, Joint hyperflexibility, Abnormality of the interv... ORPHA:85194
Thanatophoric Dysplasia Type 2
Platyspondyly, Short thorax, Narrow chest, Joint hyperflexibility, Kyphosis, Limitation of joint ... ORPHA:93274
Charcot-Marie-Tooth Disease, Demyelinating, Type 1B
Kyphoscoliosis OMIM:118200
Mucolipidosis Iii Gamma
Scoliosis, Hyperlordosis, Genu valgum, Pectus carinatum, Kyphosis, Abnormal rib cage morphology, ... OMIM:252605
Spondyloepimetaphyseal Dysplasia With Abnormal Dentition
Genu valgum, Joint contracture of the 5th finger, Irregular vertebral endplates, Platyspondyly OMIM:601668
Dystonia, Juvenile-Onset
Kyphoscoliosis OMIM:607371
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Wormian bones, Narrow chest, Dysplastic sacrum, Bell-shaped thorax, Severe platyspondyly, Short r... OMIM:613320
Rhizomelic Chondrodysplasia Punctata, Type 1
Coronal cleft vertebrae, Kyphoscoliosis OMIM:215100
Nestor-Guillermo Progeria Syndrome
Scoliosis, Osteolytic defects of the distal phalanges of the hand, Delayed closure of the anterio... OMIM:614008
Baller-Gerold Syndrome
Scoliosis, Lambdoidal craniosynostosis, Abnormal vertebral morphology, Sagittal craniosynostosis,... OMIM:218600
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome
Osteoporosis, Platyspondyly ORPHA:71267
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Abnormal form of the vertebral bodies, Joint hyperflexibility, Hemivertebrae, Abnormality of the ... ORPHA:2759
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type
Platyspondyly, Abnormal vertebral morphology, Delayed ossification of carpal bones, Limited hip m... ORPHA:93346
Osteogenesis Imperfecta, Type Iii
Scoliosis, Wormian bones, Protrusio acetabuli, Biconcave vertebral bodies, Kyphosis, Decreased ca... OMIM:259420
Stickler Syndrome, Type I
Scoliosis, Platyspondyly, Beaking of vertebral bodies, Kyphosis, Pectus excavatum, Spondylolisthe... OMIM:108300
Anauxetic Dysplasia 3
Joint hypermobility, Genu valgum, Hip subluxation, Platyspondyly, Wide anterior fontanel, Narrow ... OMIM:618853
Acrofacial Dysostosis, Palagonia Type
Scoliosis, Hypoplasia of the odontoid process, Spina bifida occulta at S1, Abnormal vertebral mor... OMIM:601829
Stickler Syndrome Type 1
Platyspondyly, Joint hyperflexibility, Abnormality of vertebral epiphysis morphology, Osteoarthritis ORPHA:90653
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism
Flexion contracture, Cervical C2/C3 vertebral fusion, Thoracolumbar scoliosis, Acetabular dysplas... OMIM:616549
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis
Osteolysis, Joint swelling, Broad ribs, Flaring of rib cage, Osteopenia, Fused cervical vertebrae... OMIM:612852
Myopathy, Congenital, Bailey-Bloch
Kyphoscoliosis OMIM:255995
Dysosteosclerosis
Platyspondyly, Delayed closure of the anterior fontanelle, Sclerosis of hand bone, Broad ribs, Na... OMIM:224300
Hydrocephalus, Sprengel Anomaly, And Costovertebral Dysplasia
Kyphoscoliosis OMIM:600991
Grant Syndrome
Wormian bones, Abnormality of the glenoid fossa, Narrow chest, Joint hyperflexibility, Sprengel a... ORPHA:2097
Fibrochondrogenesis
Wide anterior fontanel, Narrow chest, Abnormal form of the vertebral bodies, Broad ribs, Hypoplas... ORPHA:2021
Achondrogenesis Type 1A
Short thorax, Abnormal enchondral ossification, Narrow chest, Recurrent fractures, Umbilical hern... ORPHA:93299
Platyspondylic Dysplasia, Torrance Type
Platyspondyly, Short thorax, Narrow chest, Hypoplastic scapulae, Genu varum, Abnormality of the c... ORPHA:85166
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Wormian bones, Platyspondyly, Thoracic hypoplasia, Beaded ribs, Flexion contracture, Short ribs, ... OMIM:616897
Cerebrooculofacioskeletal Syndrome 1
Kyphoscoliosis OMIM:214150
Nevus Comedonicus Syndrome
Scoliosis, Spina bifida, Abnormal vertebral morphology, Spina bifida occulta ORPHA:64754
Mosaic Trisomy 20
Scoliosis, Narrow chest, Kyphosis, Down-sloping shoulders, Vertebral segmentation defect, Vertebr... ORPHA:1724
Dyssegmental Dysplasia, Silverman-Handmaker Type
Thoracic hypoplasia, Neonatal death, Anisospondyly OMIM:224410
Infantile-Onset X-Linked Spinal Muscular Atrophy
Arthrogryposis multiplex congenita, Short ribs, Interphalangeal joint contracture of finger, Knee... ORPHA:1145
Slc39A13-Related Spondylodysplastic Ehlers-Danlos Syndrome
Platyspondyly, Flexion contracture, Osteopenia ORPHA:157965
Lethal Congenital Contracture Syndrome 1
Neonatal death, Arthrogryposis multiplex congenita, Abnormal thorax morphology, Widening of cervi... OMIM:253310
Spondyloepimetaphyseal Dysplasia, Aggrecan Type
Platyspondyly, Joint laxity, Barrel-shaped chest, Lumbar hyperlordosis, Short neck OMIM:612813
Desbuquois Dysplasia 1
Scoliosis, Osteoporosis, Hyperlordosis, Platyspondyly, Joint laxity, Advanced tarsal ossification... OMIM:251450
Lamb-Shaffer Syndrome
Scoliosis, Thoracic kyphosis, Fused cervical vertebrae ORPHA:530983
Warburg Micro Syndrome 1
Kyphoscoliosis OMIM:600118
Cog1-Cdg
Irregularity of vertebral bodies, Posterior rib gap, Rib fusion, Flat acetabular roof, Kyphoscoli... ORPHA:263508
Proteus Syndrome
Spinal canal stenosis, Kyphoscoliosis OMIM:176920
Foxg1 Syndrome
Scoliosis, Kyphoscoliosis ORPHA:561854
Cooper-Jabs Syndrome
Scoliosis, Camptodactyly of finger, Joint hyperflexibility, Umbilical hernia, Reduced bone minera... ORPHA:1488
Waardenburg Syndrome, Type 1
Spina bifida, Supernumerary vertebrae, Myelomeningocele, Sprengel anomaly, Supernumerary ribs OMIM:193500
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Abnormality of the ribs, Sprengel anomaly, Abnormality of the vertebral column OMIM:601076
Jeune Syndrome
Abnormal clavicle morphology, Short thorax, Narrow chest, Abnormal sternum morphology, Abnormalit... ORPHA:474
Geroderma Osteodysplasticum
Osteoporosis, Wormian bones, Platyspondyly, Biconcave vertebral bodies, Beaking of vertebral bodi... OMIM:231070
Greenberg Dysplasia
Epiphyseal stippling, Narrow chest, Abnormal pelvis bone ossification, Abnormal scapula morpholog... OMIM:215140
Spastic Paraplegia 20, Autosomal Recessive
Kyphoscoliosis OMIM:275900
Joint Laxity, Short Stature, And Myopia
Short neck, Kyphoscoliosis OMIM:617662
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Scoliosis, Platyspondyly, Hyperlordosis, Decreased hip abduction, Limited elbow movement, Abnorma... ORPHA:85167
Femoral-Facial Syndrome
Scoliosis, Humeroradial synostosis, Radioulnar synostosis, Sprengel anomaly, Dysplastic sacrum, R... OMIM:134780
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus
Osteoporosis, Genu valgum, Hyperlordosis, Irregular carpal bones, Hip subluxation, Irregular tars... OMIM:226980
Metaphyseal Chondrodysplasia, Schmid Type
Irregular acetabular roof, Platyspondyly, Irregular vertebral endplates, Genu varum, Distal tibia... OMIM:156500
1P36 Deletion Syndrome
Scoliosis, Camptodactyly of finger, Kyphosis, Rib fusion, Delayed cranial suture closure, Joint s... ORPHA:1606
Patterson Pseudoleprechaunism Syndrome
Small cervical vertebral bodies, Cervical platyspondyly, Irregular sclerotic endplates, Ovoid tho... OMIM:169170
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome
Thoracic kyphosis, Lumbar kyphosis in infancy, Lumbar hyperlordosis, Thoracolumbar scoliosis, Kyp... ORPHA:3041
Myopathic Ehlers-Danlos Syndrome
Scoliosis, Hyperlordosis, Kyphosis, Kyphoscoliosis ORPHA:536516
Autosomal Recessive Robinow Syndrome
Scoliosis, Camptodactyly of finger, Elbow dislocation, Synostosis of carpal bones, Pectus carinat... ORPHA:1507
Episodic Ataxia Type 1
Scoliosis, Kyphoscoliosis ORPHA:37612
Fibrodysplasia Ossificans Progressiva
Scoliosis, Small cervical vertebral bodies, Ectopic ossification in muscle tissue, Ectopic ossifi... OMIM:135100
Microspherophakia-Metaphyseal Dysplasia
Spinal stenosis with reduced interpedicular distance, Flattened moderately deformed vertebrae OMIM:157151
Combined Oxidative Phosphorylation Deficiency 47
Platyspondyly, Short neck OMIM:618958
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Sprengel anomaly, Pectus excavatum, Spina bifida occulta, Fused cervical vertebrae, Butterfly ver... OMIM:619227
Holt-Oram Syndrome
Scoliosis, Abnormal clavicle morphology, Radioulnar synostosis, Kyphosis, Pectus excavatum, Spren... ORPHA:392
Rhizomelic Dysplasia, Patterson-Lowry Type
Platyspondyly OMIM:601438
Atelosteogenesis, Type I
Stillbirth, Elbow dislocation, Coronal cleft vertebrae, Narrow chest, Thoracic platyspondyly, Neo... OMIM:108720
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2
Hyperlordosis, Increased vertebral height, Abnormal vertebral morphology, Kyphoscoliosis OMIM:616817
Achondrogenesis, Type Ii
Stillbirth, Horizontal ribs, Absent vertebral body mineralization, Short ribs, Barrel-shaped chest OMIM:200610
Charcot-Marie-Tooth Disease, Type 4A
Kyphoscoliosis OMIM:214400
Idiopathic Juvenile Osteoporosis
Osteoporosis, Kyphosis, Recurrent fractures, Bone pain, Vertebral compression fracture ORPHA:85193
Koolen-De Vries Syndrome
Scoliosis, Joint hyperflexibility, Kyphosis, Pectus excavatum, Vertebral fusion, Hip dislocation,... ORPHA:96169
Central Core Disease
Kyphoscoliosis ORPHA:597
Short Stature And Facioauriculothoracic Malformations
Pectus carinatum, Pectus excavatum, Cervical ribs, Abnormality of the odontoid process, Short neck OMIM:609654
Basilar Impression, Primary
Short neck, Kyphoscoliosis OMIM:109500
Robinow Syndrome
Scoliosis, Radioulnar dislocation, Rib fusion, Fused thoracic vertebrae, Hemivertebrae, Umbilical... ORPHA:97360
Opsismodysplasia
Scoliosis, Anterior rib cupping, Narrow chest, Bell-shaped thorax, Severe platyspondyly, Flat ace... OMIM:258480
Otopalatodigital Syndrome Type 2
Scoliosis, Camptodactyly of finger, Tarsal synostosis, Narrow chest, Elbow dislocation, Synostosi... ORPHA:90652
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Abnormality of the ribs, Spina bifida, Death in infancy, Vertebral segmentation defect ORPHA:1120
Kniest-Like Dysplasia, Lethal
Platyspondyly, Broad ribs, Coronal cleft vertebrae, Narrow chest, Wide anterior fontanel, Short r... OMIM:245190
Cole-Carpenter Syndrome
Scoliosis, Wormian bones, Abnormal form of the vertebral bodies, Joint hyperflexibility, Kyphosis... ORPHA:2050
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3
Dislocated radial head, Camptodactyly of finger, Platyspondyly, Joint laxity, Irregular vertebral... OMIM:612350
Craniofaciofrontodigital Syndrome
Narrow chest, Umbilical hernia, Abnormality of the ribs, Abnormal shoulder morphology, Hypoplasti... ORPHA:363705
Chst3-Related Skeletal Dysplasia
Scoliosis, Intervertebral space narrowing, Abnormal form of the vertebral bodies, Kyphoscoliosis ORPHA:263463
10Q22.3Q23.3 Microduplication Syndrome
Abnormality of the ribs, Abnormal clavicle morphology ORPHA:276422
Congenital Disorder Of Glycosylation, Type Iig
Scoliosis, Camptodactyly, Abnormality of the ribs, Osteopenia, Short neck, Vertebral segmentation... OMIM:611209
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type
Platyspondyly, Wide anterior fontanel, Wormian bones OMIM:601356
Calvarial Doughnut Lesions With Bone Fragility
Osteoporosis, Platyspondyly, Scoliosis, Recurrent fractures, Osteopenia OMIM:126550
Thin Ribs-Tubular Bones-Dysmorphism Syndrome
Abnormality of the ribs ORPHA:1506
Mucopolysaccharidosis, Type Iiia
Thickened ribs, Ovoid thoracolumbar vertebrae, Joint stiffness, Dense calvaria OMIM:252900
Pallister-Hall Syndrome
Rib fusion, Radial head subluxation, Hemivertebrae, Neonatal death, Hip dislocation OMIM:146510
Wolf-Hirschhorn Syndrome
Osteoporosis, Scoliosis, Abnormality of the vertebral column, Abnormal vertebral morphology, Abno... ORPHA:280
Spinal Arteriovenous Metameric Syndrome
Abnormality of the vertebral column, Kyphoscoliosis ORPHA:53721
Desbuquois Dysplasia 2
Platyspondyly, Joint laxity, Narrow chest, Pectus carinatum, Pectus excavatum, Radial head sublux... OMIM:615777
3M Syndrome
Scoliosis, Hyperlordosis, Increased vertebral height, Short thorax, Scapular winging, Congenital ... ORPHA:2616
Robinow Syndrome, Autosomal Dominant 2
Sacral dimple, Kyphoscoliosis OMIM:616331
Osteogenesis Imperfecta, Type Xvii
Osteoporosis, Platyspondyly, Vertebral compression fracture, Scoliosis OMIM:616507
Paternal Uniparental Disomy Of Chromosome 5
Kyphoscoliosis ORPHA:96190
Atelosteogenesis Type I
Scoliosis, Platyspondyly, Abnormal ossification involving the femoral head and neck, Coronal clef... ORPHA:1190
Melnick-Needles Syndrome
Scoliosis, Short thorax, Anisospondyly, Narrow chest, Joint hyperflexibility, Delayed cranial sut... ORPHA:2484
Spondyloperipheral Dysplasia
Limited elbow extension, Platyspondyly, Pectus carinatum, Kyphosis, Flat acetabular roof, Acetabu... OMIM:271700
Thoracic Outlet Syndrome
Abnormality of the ribs ORPHA:97330
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Kyphoscoliosis ORPHA:3077
Autosomal Recessive Spastic Paraplegia Type 23
Kyphoscoliosis ORPHA:101003
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome
Rib fusion, Sacral dimple ORPHA:544488
Pontocerebellar Hypoplasia, Type 10
Kyphoscoliosis OMIM:615803
Otospondylomegaepiphyseal Dysplasia
Platyspondyly, Enlarged joints, Coronal cleft vertebrae, Abnormal vertebral morphology, Abnormal ... ORPHA:1427
Thrombocytopenia-Absent Radius Syndrome
Scoliosis, Fused cervical vertebrae, Aplasia/Hypoplasia of the patella, Cervical ribs, Genu varum... ORPHA:3320
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech
Cubitus valgus, Platyspondyly, Carpal bone hypoplasia, Pectus excavatum, Flexion contracture, Tho... OMIM:611717
Lymphangiectasia, Intestinal
Prominent floating ribs, Stillbirth OMIM:152800
Combined Oxidative Phosphorylation Deficiency 32
Kyphoscoliosis OMIM:617664
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
Scoliosis, Kyphoscoliosis ORPHA:391307
Spondylometaphyseal Dysplasia, Algerian Type
Anterior rib cupping, Platyspondyly, Genu valgum, Carpal bone hypoplasia, Lumbar hyperlordosis, K... OMIM:184253
Hyperparathyroidism, Transient Neonatal
Thin ribs, Short ribs, Narrow chest OMIM:618188
Occipital Horn Syndrome
Osteoporosis, Limited elbow extension, Genu valgum, Platyspondyly, Joint laxity, Narrow chest, Br... OMIM:304150
Infantile Liver Failure Syndrome 3
Platyspondyly, Beaking of vertebral bodies, Death in childhood, Hypoplastic vertebral bodies, Abn... OMIM:618641
Craniodiaphyseal Dysplasia, Autosomal Dominant
Cortical sclerosis, Craniofacial osteosclerosis, Thickened ribs, Diaphyseal sclerosis OMIM:122860
Schimke Immunoosseous Dysplasia
Platyspondyly, Thoracic kyphosis, Ovoid vertebral bodies, Lumbar hyperlordosis, Osteopenia, Short... OMIM:242900
Stapes Ankylosis With Broad Thumbs And Toes
Fused cervical vertebrae, Proximal/middle symphalangism of 5th finger OMIM:184460
Weismann-Netter Syndrome
Scoliosis, Kyphosis, Horizontal sacrum OMIM:112350
Brachytelephalangic Chondrodysplasia Punctata
Vertebral hypoplasia, Atlantoaxial instability, Cervical vertebral dysplasia, Cervical spinal can... ORPHA:79345
Zttk Syndrome
Scoliosis, Joint hypermobility, Craniosynostosis, Kyphosis, Flexion contracture, Rib fusion, Hemi... OMIM:617140
Dysosteosclerosis
Platyspondyly, Recurrent fractures, Irregular vertebral endplates, Increased bone mineral density... ORPHA:1782
Mucopolysaccharidosis, Type Vi
Genu valgum, Prominent sternum, Broad ribs, Ovoid vertebral bodies, Umbilical hernia, Anterior we... OMIM:253200
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities
Dislocated radial head, Platyspondyly, Delayed ossification of carpal bones, Pectus excavatum, Ce... OMIM:617425
Lowry-Wood Syndrome
Dislocated radial head, Platyspondyly, Elbow dislocation, Joint stiffness, Patellar dislocation, ... ORPHA:1824
Metaphyseal Acroscyphodysplasia
Scoliosis, Accelerated skeletal maturation, Platyspondyly, Craniosynostosis, Biconcave vertebral ... OMIM:250215
Congenital Cataracts, Facial Dysmorphism, And Neuropathy
Kyphoscoliosis OMIM:604168
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive
Platyspondyly, Enlarged joints, Coronal cleft vertebrae, Beaking of vertebral bodies, Flexion con... OMIM:215150
Faciodigitogenital Syndrome, Autosomal Recessive
Hyperextensible hand joints, Camptodactyly, Pectus excavatum, Down-sloping shoulders, Vertebral f... OMIM:227330
Arthrogryposis, Distal, Type 3
Lumbar hyperlordosis, Thoracolumbar scoliosis, Short neck, Kyphoscoliosis OMIM:114300
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome
Abnormality of the ribs, Kyphosis, Short neck, Pectus carinatum ORPHA:3082
Mucopolysaccharidosis, Type Iiib
Thickened ribs, Ovoid thoracolumbar vertebrae, Joint stiffness, Dense calvaria OMIM:252920
Thanatophoric Dysplasia Type 1
Platyspondyly, Wide anterior fontanel, Narrow chest, Kyphosis, Joint stiffness, Abnormal sacroili... ORPHA:1860
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome
Hyperlordosis, Limited elbow extension, Genu valgum, Craniosynostosis, Abnormality of the knee, C... ORPHA:457395
Mucopolysaccharidosis Type 6
Genu valgum, Broad ribs, Ovoid vertebral bodies, Kyphosis, Joint stiffness, Short neck ORPHA:583
Acrocapitofemoral Dysplasia
Scoliosis, Narrow chest, Pectus carinatum, Delayed ossification of carpal bones, Ovoid vertebral ... OMIM:607778
Monosomy 18P
Short neck, Kyphoscoliosis ORPHA:1598
Congenital Pseudoarthrosis Of The Clavicle
Cervical ribs, Osteoarthritis, Congenital pseudoarthrosis of the clavicle ORPHA:66630
Mcdonough Syndrome
Kyphoscoliosis OMIM:248950
Coffin-Siris Syndrome 6
Kyphoscoliosis OMIM:617808
Cerebrooculofacioskeletal Syndrome 2
Kyphoscoliosis OMIM:610756
Spondylometaphyseal Dysplasia, Sedaghatian Type
Accelerated skeletal maturation, Platyspondyly, Narrow chest, Abnormal scapula morphology, Abnorm... ORPHA:93317
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Abnormality of the ribs, Joint hyperflexibility, Decreased calvarial ossification, Recurrent frac... ORPHA:2772
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome
Hyperlordosis, Pectus carinatum, Delayed skeletal maturation, Abnormality of the ribs, Limitation... ORPHA:3068
Sillence Syndrome
Scoliosis, Platyspondyly, Intervertebral disc degeneration, Abnormal vertebral morphology, Campto... ORPHA:3168
Cortical Defects, Wormian Bones, And Dentinogenesis Imperfecta
Limited elbow extension, Delayed closure of the anterior fontanelle, Wormian bones, Thin ribs, In... OMIM:604922
Cat-Eye Syndrome
Abnormality of the ribs ORPHA:195
Axial Mesodermal Dysplasia Spectrum
Scoliosis, Abnormality of the knee, Abnormal form of the vertebral bodies, Missing ribs, Abnormal... ORPHA:1834
Chromosome 1P36 Deletion Syndrome
Scoliosis, Camptodactyly of finger, Delayed closure of the anterior fontanelle, Wide anterior fon... OMIM:607872
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Abnormality of the ribs, Abnormally ossified vertebrae ORPHA:3035
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome
Scoliosis, Short neck, Kyphoscoliosis ORPHA:391408
Three M Syndrome 2
Hyperlordosis, Short thorax, Scapular winging, Pectus carinatum, Lumbar hyperlordosis, Thin ribs,... OMIM:612921
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type
Platyspondyly, Craniosynostosis, Thoracolumbar scoliosis, Osteopenia, Short neck, Delayed skeleta... OMIM:616723
Postaxial Acrofacial Dysostosis
Pectus excavatum, Supernumerary vertebrae OMIM:263750
Cerebral-Cerebellar-Coloboma Syndrome, X-Linked
Abnormality of the ribs OMIM:300864
Koolen-De Vries Syndrome
Scoliosis, Joint hypermobility, Kyphosis, Pectus excavatum, Spondylolisthesis, Sacral dimple, Ver... OMIM:610443
Schwartz-Jampel Syndrome
Scoliosis, Wormian bones, Arthrogryposis multiplex congenita, Elbow dislocation, Death in infancy... ORPHA:800
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type
Scoliosis, Atlantoaxial instability, Platyspondyly, Epiphyseal stippling, Hip subluxation, Anteri... OMIM:271665
Anauxetic Dysplasia 2
Hyperlordosis, Ovoid vertebral bodies, Cervical spine instability, Thoracolumbar kyphoscoliosis, ... OMIM:617396
Gm1-Gangliosidosis, Type I
Scoliosis, Thickened ribs, Short neck, Beaking of vertebral bodies, Kyphosis, Death in infancy, J... OMIM:230500
Prune Belly Syndrome
Scoliosis, Congenital hip dislocation, Pectus excavatum, Abnormality of the ribs, Vertebral segme... ORPHA:2970
Mucopolysaccharidosis, Type Iiic
Thickened ribs, Dense calvaria, Ovoid thoracolumbar vertebrae, Joint stiffness, Kyphoscoliosis OMIM:252930
Cenani-Lenz Syndrome
Scoliosis, Radioulnar synostosis, Synostosis of carpal bones, Elbow dislocation, Abnormal form of... ORPHA:3258
Hall-Riggs Syndrome
Scoliosis, Platyspondyly, Joint stiffness, Delayed skeletal maturation ORPHA:2107
Spondyloepimetaphyseal Dysplasia, Sponastrime Type
Genu valgum, Limited elbow extension, Platyspondyly, Biconcave vertebral bodies, Thoracic kyphosi... OMIM:271510
Mucolipidosis Iii Alpha/Beta
Scoliosis, Craniosynostosis, Irregular carpal bones, Broad ribs, Carpal bone hypoplasia, Short ri... OMIM:252600
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Scoliosis, Joint hypermobility, Multiple joint dislocation, Craniosynostosis, Accelerated skeleta... OMIM:245600
Otopalatodigital Syndrome, Type Ii
Wormian bones, Delayed closure of the anterior fontanelle, Nonossified fifth metatarsal, Platyspo... OMIM:304120
3Q29 Microdeletion Syndrome
Pectus carinatum, Pectus excavatum, Six lumbar vertebrae ORPHA:65286
Wolf-Hirschhorn Syndrome
Scoliosis, Radioulnar synostosis, Abnormal form of the vertebral bodies, Abnormal sternal ossific... OMIM:194190
Trisomy 20P
Scoliosis, Camptodactyly of finger, Platyspondyly, Spina bifida, Abnormal form of the vertebral b... ORPHA:261318
Fucosidosis
Scoliosis, Absent/hypoplastic coccyx, Shield chest, Flexion contracture, Lumbar hyperlordosis, An... OMIM:230000
Kyphomelic Dysplasia
Anterior rib cupping, Platyspondyly, Lateral clavicle hook, Thoracic hypoplasia, Pterygium, Flat ... OMIM:211350
Blomstrand Lethal Chondrodysplasia
Accelerated skeletal maturation, Platyspondyly, Short thorax, Narrow chest, Synostosis of joints,... ORPHA:50945
Acro-Renal-Mandibular Syndrome
Scoliosis, Abnormal clavicle morphology, Pectus carinatum, Kyphosis, Sprengel anomaly, Hypoplasti... ORPHA:958
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Lumbar hyperlordosis, Platyspondyly, Kyphosis, Wide anterior fontanel OMIM:616482
Primary Dystonia, Dyt4 Type
Kyphoscoliosis ORPHA:98805
Holzgreve Syndrome
Abnormality of the ribs, Abnormally ossified vertebrae, Joint stiffness ORPHA:2167
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Scoliosis, Biconcave vertebral bodies, Kyphoscoliosis OMIM:236200
Microcephalic Primordial Dwarfism, Toriello Type
Abnormality of the ribs ORPHA:2643
Familial Osteodysplasia, Anderson Type
Scoliosis, Elbow dislocation, Abnormal form of the vertebral bodies, Kyphosis, Recurrent fracture... ORPHA:2769
Spondyloenchondrodysplasia With Immune Dysregulation
Scoliosis, Platyspondyly, Joint swelling, Rheumatoid arthritis, Irregular vertebral endplates, Lu... OMIM:607944
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
Hip subluxation, Joint laxity, Ovoid vertebral bodies, Pathologic fracture, Advanced ossification... OMIM:271640
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Scoliosis, Abnormality of the vertebral column, Abnormal vertebral morphology, Unilateral chest h... OMIM:308205
Cerebrooculofacioskeletal Syndrome 4
Kyphoscoliosis OMIM:610758
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome
Kyphoscoliosis ORPHA:75496
Alagille Syndrome
Abnormal form of the vertebral bodies, Spina bifida occulta, Abnormality of the ribs, Butterfly v... ORPHA:52
Multiple Synostoses Syndrome 1
Dislocated radial head, Cubitus valgus, Tarsal synostosis, Abnormal vertebral morphology, Pectus ... OMIM:186500
Carpenter Syndrome
Kyphoscoliosis ORPHA:65759
Larsen-Like Syndrome
Kyphoscoliosis OMIM:608545
Hypophosphatasia
Abnormality of the ribs, Craniosynostosis, Recurrent fractures, Narrow chest ORPHA:436
Mucopolysaccharidosis, Type Iiid
Thickened ribs, Flexion contracture, Ovoid thoracolumbar vertebrae, Joint stiffness, Short neck OMIM:252940
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Platyspondyly, Kyphosis, Osteopetrosis OMIM:618476
Thrombocytopenia-Absent Radius Syndrome
Lateral clavicle hook, Spina bifida, Carpal bone hypoplasia, Death in infancy, Carpal synostosis,... OMIM:274000
Osteoporosis-Pseudoglioma Syndrome
Osteoporosis, Joint hypermobility, Platyspondyly, Pathologic fracture, Increased susceptibility t... OMIM:259770
Frontometaphyseal Dysplasia
Scoliosis, Limited wrist movement, Dislocated radial head, Craniosynostosis, Camptodactyly of fin... ORPHA:1826
13Q12.3 Microdeletion Syndrome