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Gene: Hes7 MGI:2135679

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Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
hes family bHLH transcription factor 7
Synonyms:
bHLHb37

Order Alleles

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by 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
Vertebral fusion, Abnormal odontoid process morphology, Block vertebrae, Missing ribs, Pectus exc... OMIM:613686
Autosomal Recessive Spondylocostal Dysostosis
Rib segmentation abnormalities, Abnormal intervertebral disk morphology, Camptodactyly of finger,... 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
Cervical Vertebral Dysplasia
Cervical vertebral dysplasia, Cervical vertebral facet hypoplasia, Anterior atlanto-occipital dis... OMIM:118005
Spondylocostal Dysostosis 2, Autosomal Recessive
Short neck, Vertebral clefting, Rib fusion, Hemivertebrae, Vertebral segmentation defect OMIM:608681
Spondylocostal Dysostosis 3, Autosomal Recessive
Contracture of the proximal interphalangeal joint of the 2nd finger, Kyphosis, Hypoplasia of the ... OMIM:609813
Scoliosis, Isolated, Susceptibility To, 1
Scoliosis OMIM:181800
Scheuermann Disease
Kyphosis, Morbus Scheuermann OMIM:181440
Spondylocostal Dysostosis 5
Vertebral fusion, Low back pain, Missing ribs, Short neck, Hemivertebrae, Pectus carinatum, Poste... OMIM:122600
Spondylocostal Dysostosis 1, Autosomal Recessive
Back pain, Vertebral fusion, Block vertebrae, Abnormal odontoid process morphology, Kyphoscoliosi... OMIM:277300
Intellectual Developmental Disorder, X-Linked 82
Kyphosis, Scoliosis OMIM:300518
Autosomal Dominant Brachyolmia
Increased vertebral height, Platyspondyly, Kyphoscoliosis ORPHA:93304
Spondylocostal Dysostosis 6, Autosomal Recessive
Cervical kyphosis, Hemivertebrae, Spinal canal stenosis, Scoliosis, Butterfly vertebrae OMIM:616566
Autosomal Dominant Spondylocostal Dysostosis
Missing ribs, Short neck, Hyperlordosis, Abnormal sacrum morphology, Short thorax, Abnormal rib m... ORPHA:1797
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis
Thoracolumbar kyphosis, Kyphoscoliosis OMIM:236660
Diaphanospondylodysostosis
Short neck, Missing ribs, Short thorax, Enlarged thorax, Absent or minimally ossified vertebral b... ORPHA:66637
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Delayed skeletal maturation, Abnormality of the elbow, Abnormal rib morphology, Pectus carinatum,... ORPHA:3268
Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome
Sacral dimple, Tarsal synostosis, Joint stiffness, Abnormal form of the vertebral bodies, Posteri... ORPHA:2064
Cervical Rib
Cervical ribs OMIM:117900
Microcephaly With Cervical Spine Fusion Anomalies
Vertebral fusion, Spinal instability OMIM:251250
Neurogenic Thoracic Outlet Syndrome
Abnormal rib morphology ORPHA:100073
Spinal Muscular Atrophy, Ryukyuan Type
Kyphoscoliosis OMIM:271200
Vertebral Fusion, Posterior Lumbosacral, With Blepharoptosis
Posterior fusion of lumbosacral vertebrae OMIM:192800
Poland Syndrome
Sprengel anomaly, Rib fusion, Short ribs, Hemivertebrae OMIM:173800
Vertebral Hypoplasia With Lumbar Kyphosis
Vertebral hypoplasia, Lumbar kyphosis OMIM:192900
Spondylocostal Dysostosis 4, Autosomal Recessive
Vertebral fusion, Abnormal odontoid process morphology, Block vertebrae, Missing ribs, Pectus exc... OMIM:613686
Brachyolmia, Maroteaux Type
Pectus excavatum, Short thorax, Abnormal form of the vertebral bodies, Platyspondyly, Scoliosis ORPHA:93302
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type
Lumbar hyperlordosis, Decreased hip abduction, Pectus carinatum, Genu valgum, Irregular vertebral... OMIM:609223
Becker Nevus Syndrome
Pectus excavatum, Kyphosis, Rib fusion, Pectus carinatum, Supernumerary ribs, Scoliosis, Spina bi... ORPHA:64755
Klippel-Feil Syndrome 3, Autosomal Dominant
Thoracic scoliosis, Cervical C3/C4 vertebral fusion, Cervical C5/C6 vertebrae fusion OMIM:613702
Primary Basilar Invagination
Abnormality of the cervical spine, Abnormal vertebral morphology, Short neck ORPHA:2285
Sprengel Deformity
Rib segmentation abnormalities, Cervical segmentation defect, Hemivertebrae, Scoliosis, Sprengel ... OMIM:184400
Ankylosing Vertebral Hyperostosis With Tylosis
Vertebral hyperostosis OMIM:106400
Intellectual Developmental Disorder, X-Linked 19
Scoliosis, Kyphoscoliosis OMIM:300844
Ichthyosis--Cheek--Eyebrow Syndrome
Kyphoscoliosis OMIM:146720
Isolated Klippel-Feil Syndrome
Spina bifida, Short neck, Abnormal sacrum morphology, Abnormal rib morphology, Abnormal shoulder ... ORPHA:2345
Osteomesopyknosis
Kyphosis, Sclerotic vertebral body, Scoliosis, Abnormal form of the vertebral bodies ORPHA:2777
Autosomal Recessive Spondylocostal Dysostosis
Rib segmentation abnormalities, Abnormal intervertebral disk morphology, Camptodactyly of finger,... ORPHA:2311
Brachyolmia Type 1, Hobaek Type
Back pain, Osteopenia, Sclerotic foci of metaphyses of the elbow, Short neck, Kyphosis, Flat acet... OMIM:271530
Spondyloepiphyseal Dysplasia, Stanescu Type
Beaking of vertebral bodies, Vertebral wedging, Platyspondyly, Kyphoscoliosis OMIM:616583
Kyphomelic Dysplasia
Anterior rib cupping, Missing ribs, Lateral clavicle hook, Joint stiffness, Short thorax, Limitat... ORPHA:1801
Brachyolmia Type 1, Toledo Type
Back pain, Kyphoscoliosis, Short neck, Irregular vertebral endplates, Squared-off platyspondyly, ... OMIM:271630
Cervical Hypertrichosis With Underlying Kyphoscoliosis
Kyphoscoliosis OMIM:117850
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Vertebral fusion, Sacral dimple, Short thorax, Vertebral segmentation defect OMIM:618845
Acromesomelic Dysplasia, Maroteaux Type
Ovoid vertebral bodies, Hyperlordosis, Joint stiffness, Kyphosis, Abnormal form of the vertebral ... ORPHA:40
Multiple Synostoses Syndrome 2
Vertebral fusion, Tarsal synostosis, Humeroradial synostosis, Finger symphalangism, Proximal symp... OMIM:610017
Cerebrofaciothoracic Dysplasia
Short neck, Rib fusion, Hemivertebrae, Vertebral segmentation defect, Narrow chest, Bifid ribs, S... ORPHA:1394
Heart Defects-Limb Shortening Syndrome
Accelerated skeletal maturation, Kyphosis, Abnormal rib morphology, Abnormal form of the vertebra... ORPHA:1354
Endosteal Hyperostosis, Worth Type
Sclerotic vertebral body, Generalized osteosclerosis, Abnormal rib morphology, Abnormal form of t... ORPHA:2790
Basal Cell Nevus Syndrome 1
Vertebral fusion, Down-sloping shoulders, Spina bifida, Kyphoscoliosis, Hemivertebrae, Irregular ... OMIM:109400
Parkinson-Dementia Syndrome
Kyphoscoliosis OMIM:260540
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Kyphoscoliosis OMIM:619099
Klippel-Feil Syndrome 2, Autosomal Recessive
Short neck, Fused cervical vertebrae, Scoliosis, Cervical C2/C3 vertebral fusion, Sprengel anomaly OMIM:214300
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Superior rib anomalies, Abnormality of the cervical spine OMIM:307500
Parastremmatic Dwarfism
Kyphosis, Scoliosis, Short neck OMIM:168400
Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes
Irregular vertebral endplates, Platyspondyly, Lumbar scoliosis, Kyphoscoliosis OMIM:612847
Osteoarthritis With Mild Chondrodysplasia
Heberden's node, Joint stiffness, Knee osteoarthritis, Schmorl's node, Irregular vertebral endpla... OMIM:604864
Osteogenesis Imperfecta, Type Ix
Recurrent fractures, Beaded ribs, Pectus excavatum, Kyphosis, Multiple prenatal fractures, Pectus... OMIM:259440
Spondylometaphyseal Dysplasia, A4 Type
Platyspondyly, Limitation of joint mobility, Flared, irregular rib ends ORPHA:168555
Spondyloepiphyseal Dysplasia Tarda, Kohn Type
Abnormality of the knee, Restricted large joint movement, Platyspondyly, Abnormality of the ankle... ORPHA:163665
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome
Abnormal rib morphology ORPHA:2435
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B
Fused thoracic vertebrae, Tarsal synostosis, Short neck, Flexion contracture, Antecubital pterygi... OMIM:618469
Spondylocamptodactyly Syndrome
Platyspondyly, Scoliosis ORPHA:3180
Femoral-Facial Syndrome
Abnormal sacrum morphology, Rib fusion, Abnormal rib morphology, Vertebral segmentation defect, R... ORPHA:1988
Acrodysplasia Scoliosis
Vertebral segmentation defect, Spina bifida occulta, Scoliosis ORPHA:2956
Orofaciodigital Syndrome Xi
Hypoplasia of the odontoid process, Kyphoscoliosis OMIM:612913
Spondylometaphyseal Dysplasia, Type A4
Ovoid vertebral bodies, Enlargement of the costochondral junction, Flat acetabular roof, Pectus c... OMIM:609052
Aphalangia, Partial, With Syndactyly And Duplication Of Metatarsal Iv
Kyphoscoliosis OMIM:600384
Horizontal Gaze Palsy With Progressive Scoliosis
Kyphosis, Scoliosis, Short neck ORPHA:2744
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A
Barrel-shaped chest, Vertebral fusion, Hip contracture, Elbow contracture, Multiple pterygia, Sho... OMIM:178110
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Vertebral fusion, Block vertebrae, Short neck, Missing ribs, Rib fusion, Hemivertebrae, Thin ribs... OMIM:271520
Spondylosis, Cervical
Spondylolysis, Spina bifida occulta, Cervical spondylosis, Spondylolisthesis OMIM:184300
Metatropic Dysplasia
Abnormal intervertebral disk morphology, Camptodactyly of finger, Abnormal enchondral ossificatio... ORPHA:2635
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome
Fused cervical vertebrae, Abnormal sacrum morphology, Thoracic hemivertebrae, Scoliosis ORPHA:1436
Spondyloepiphyseal Dysplasia, Kimberley Type
Delayed skeletal maturation, Platyspondyly, Genu varum, Genu valgum OMIM:608361
Bruck Syndrome 1
Joint laxity, Hip contracture, Protrusio acetabuli, Ankle flexion contracture, Kyphosis, Osteopor... OMIM:259450
Thoracolaryngopelvic Dysplasia
Irregular chondrocostal junctions, Bell-shaped thorax, Irregular vertebral endplates, Short ribs,... OMIM:187760
Spondylometaphyseal Dysplasia, X-Linked
Hyperextensibility of the finger joints, Hip contracture, Enlarged joints, Thoracolumbar scoliosi... OMIM:313420
Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant
Barrel-shaped chest, Lumbar hyperlordosis, Kyphoscoliosis, Short neck, Avascular necrosis of the ... OMIM:184100
Galactosialidosis
Abnormality of the vertebral column, Abnormal vertebral morphology ORPHA:351
Becker Nevus Syndrome
Pectus excavatum, Cervical ribs, Hemivertebrae, Scoliosis OMIM:604919
Klippel-Feil Syndrome 1, Autosomal Dominant
Short neck, Abnormal rib morphology, Scoliosis, Cervical C2/C3 vertebral fusion, Sprengel anomaly... OMIM:118100
Nemaline Myopathy 5B, Autosomal Recessive, Childhood-Onset
Kyphoscoliosis, Scoliosis, Spinal rigidity OMIM:620386
Developmental And Speech Delay Due To Sox5 Deficiency
Thoracic kyphoscoliosis, Vertebral fusion, Lumbar hyperlordosis, Pectus carinatum, Scoliosis, But... ORPHA:313892
Mesomelic Dysplasia, Kantaputra Type
Camptodactyly of finger, Tarsal synostosis, Abnormal rib morphology, Vertebral segmentation defec... ORPHA:1836
Spondyloepiphyseal Dysplasia, Kimberley Type
Platyspondyly, Short thorax, Osteoarthritis ORPHA:93283
Aicardi Syndrome
Block vertebrae, Spina bifida, Missing ribs, Rib fusion, Hemivertebrae, Supernumerary ribs, Bifid... OMIM:304050
Kuskokwim Syndrome
Abnormal clavicle morphology, Aplasia/Hypoplasia of the patella, Joint stiffness, Abnormal form o... ORPHA:1149
Dysspondyloenchondromatosis
Joint dislocation, Enlarged joints, Kyphoscoliosis, Osteoarthritis, Generalized joint laxity, Del... ORPHA:85198
Spondylometaphyseal Dysplasia, Axial
Anterior rib cupping, Platyspondyly, Narrow chest, Scoliosis, Thoracic hypoplasia OMIM:602271
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods
Fusion of midcervical facet joints, Widening of cervical spinal canal, Cervical vertebral bodies ... OMIM:606842
Acropectorovertebral Dysplasia
Capitate-hamate fusion, Abnormal thorax morphology, Spina bifida occulta at S1, Spina bifida occu... OMIM:102510
Spondyloepiphyseal Dysplasia Tarda With Mental Retardation
Platyspondyly, Anterior beaking of lumbar vertebrae OMIM:271620
Pyle Disease
Abnormal thorax morphology, Reduced bone mineral density, Genu valgum, Platyspondyly, Scoliosis, ... OMIM:265900
Osteogenesis Imperfecta, Type Xv
Recurrent fractures, Thin ribs, Platyspondyly, Bowing of limbs due to multiple fractures, Scolios... OMIM:615220
Greenberg Dysplasia
Abnormally ossified vertebrae, Abnormal pelvis bone ossification, Anterior rib punctate calcifica... ORPHA:1426
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
Beaking of vertebral bodies, Vertebral fusion, Sacral dimple, Hyperextensibility of the finger jo... OMIM:213980
Maternal Uniparental Disomy Of Chromosome 9
Abnormal vertebral morphology, Kyphoscoliosis, Short neck ORPHA:96183
Epiphyseal Dysplasia, Multiple, 7
Advanced ossification of carpal bones, Flat acetabular roof, Vertebral wedging, Platyspondyly, Ge... OMIM:617719
Atelosteogenesis, Type Ii
Death in infancy, Lumbar hyperlordosis, Cervical kyphosis, Short neck, Increased intervertebral s... OMIM:256050
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Abnormal clavicle morphology, Hyperlordosis, Pectus excavatum, Short neck, Kyphosis, Abnormal rib... ORPHA:2522
Second Metatarsal-Metacarpal Syndrome
Platyspondyly, Synostosis of carpals/tarsals OMIM:269630
Spondyloepimetaphyseal Dysplasia, Di Rocco Type
Delayed skeletal maturation, Reduced bone mineral density, Platyspondyly, Delayed ossification of... OMIM:617974
Mental Retardation, Skeletal Dysplasia, And Abducens Palsy
Fused cervical vertebrae, Prominent metopic ridge, Thoracic hemivertebrae, Scoliosis OMIM:309620
Metatropic Dysplasia
Enlarged joints, Flexion contracture, Long coccyx, Narrow chest, Flaring of rib cage, Anisospondy... OMIM:156530
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2
Vertebral segmentation defect, Abnormal rib morphology, Short neck ORPHA:2578
Spondyloepimetaphyseal Dysplasia, Irapa Type
Lumbar hyperlordosis, Hypoplastic sacrum, Enlargement of the costochondral junction, Osteoarthrit... OMIM:271650
Multiple Pterygium Syndrome, X-Linked
Joint dislocation, Vertebral fusion, Abnormal cervical curvature, Multiple pterygia, Flexion cont... OMIM:312150
Multiple Pterygium Syndrome, Escobar Variant
Multiple joint contractures, Short neck, Flexion contracture, Knee flexion contracture, Intercrur... OMIM:265000
Diastrophic Dysplasia
Lumbar hyperlordosis, Cervical kyphosis, Kyphoscoliosis, Scoliosis, Hypoplastic cervical vertebrae OMIM:222600
Spondyloepiphyseal Dysplasia, Maroteaux Type
Platyspondyly, Genu valgum OMIM:184095
Aicardi Syndrome
Block vertebrae, Missing ribs, Rib fusion, Supernumerary ribs, Scoliosis, Bifid ribs, Butterfly v... ORPHA:50
Brachydactyly, Type B1
Vertebral fusion, Hypoplastic sacrum, Thoracolumbar scoliosis, Hemivertebrae, Camptodactyly, Join... OMIM:113000
Brachydactylous Dwarfism, Mseleni Type
Osteopenia, Protrusio acetabuli, Limitation of joint mobility, Knee osteoarthritis, Platyspondyly... ORPHA:2619
Progressive Pseudorheumatoid Arthropathy Of Childhood
Irregularity of vertebral bodies, Wrist swelling, Abnormal shoulder morphology, Irregular vertebr... ORPHA:1159
Schneckenbecken Dysplasia
Hypoplastic scapulae, Anterior rib cupping, Ovoid vertebral bodies, Short neck, Lateral clavicle ... OMIM:269250
Kbg Syndrome
Vertebral fusion, Persistent open anterior fontanelle, Short neck, Delayed skeletal maturation, C... ORPHA:2332
Multiple Pterygium Syndrome, Lethal Type
Joint dislocation, Vertebral fusion, Abnormal cervical curvature, Multiple pterygia, Flexion cont... OMIM:253290
Seckel Syndrome 8
Kyphoscoliosis OMIM:615807
Ring Chromosome 21 Syndrome
Fused thoracic vertebrae, Thoracic hemivertebrae, Abnormal thorax morphology, Scoliosis ORPHA:1445
Brachyolmia Type 2
Platyspondyly OMIM:613678
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3
Joint laxity, Short neck, Multiple joint dislocation, Hip dislocation, Thin ribs, Irregular verte... OMIM:618395
Pseudoachondroplasia
Limited hip extension, Distal joint laxity, Delayed epiphyseal ossification, Osteoarthritis, Gene... ORPHA:750
Charcot-Marie-Tooth Disease, Axonal, Type 2B1
Kyphoscoliosis OMIM:605588
Microcephaly-Brachydactyly-Kyphoscoliosis Syndrome
Atlantoaxial abnormality, Kyphoscoliosis ORPHA:3433
Autosomal Recessive Multiple Pterygium Syndrome
Camptodactyly of finger, Multiple pterygia, Pectus excavatum, Limitation of joint mobility, Rib f... ORPHA:2990
Nemaline Myopathy 7
Lumbar hyperlordosis, Kyphoscoliosis OMIM:610687
Osteogenesis Imperfecta, Type V
Osteopenia, Hyperextensibility of the finger joints, Wormian bones, Recurrent fractures, Vertebra... OMIM:610967
Spondyloepimetaphyseal Dysplasia, Handigodu Type
Abnormality of the knee, Hip contracture, Lumbar hyperlordosis, Abnormal intervertebral disk morp... ORPHA:99642
Keratoconus Posticus Circumscriptus
Limited elbow extension and supination, Abnormal vertebral segmentation and fusion, Short neck OMIM:244600
Pseudodiastrophic Dysplasia
Elbow dislocation, Platyspondyly, Phalangeal dislocation, Scoliosis ORPHA:85174
Spondyloepiphyseal Dysplasia Tarda, X-Linked
Barrel-shaped chest, Back pain, Lumbar hyperlordosis, Short neck, Kyphosis, Limitation of joint m... OMIM:313400
Intellectual Developmental Disorder, X-Linked 111
Kyphoscoliosis OMIM:301107
Pontine Tegmental Cap Dysplasia
Ankle clonus, Rib fusion, Hemivertebrae, Scoliosis OMIM:614688
Morquio Syndrome C
Platyspondyly OMIM:252300
Spondyloepiphyseal Dysplasia Tarda
Back pain, Osteoarthritis of the distal interphalangeal joint, Limited elbow movement, Short neck... ORPHA:93284
Epiphyseal Dysplasia, Multiple, With Severe Proximal Femoral Dysplasia
Irregularity of vertebral bodies, Platyspondyly, Genu valgum OMIM:609324
Charcot-Marie-Tooth Disease, Axonal, Type 2K
Kyphoscoliosis OMIM:607831
Kniest Dysplasia
Arthropathy, Enlarged joints, Short neck, Joint stiffness, Hypoplasia of the odontoid process, De... ORPHA:485
Thanatophoric Dysplasia, Type Ii
Small abnormally formed scapulae, Wide-cupped costochondral junctions, Platyspondyly, Short ribs,... OMIM:187601
Mucopolysaccharidosis, Type Iva
Joint laxity, Ulnar deviation of the wrist, Ovoid vertebral bodies, Short neck, Hyperlordosis, Hy... OMIM:253000
Spondylometaphyseal Dysplasia, Kozlowski Type
Enlarged joints, Kyphoscoliosis, Short neck, Hypoplasia of the odontoid process, Delayed skeletal... OMIM:184252
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome
Short neck, Abnormal rib morphology, Hemivertebrae, Abnormal form of the vertebral bodies, Abnorm... ORPHA:2234
Spondylometaphyseal Dysplasia With Corneal Dystrophy
Increased intervertebral space, Thoracic platyspondyly, Short ribs, Narrow chest, Death in childh... OMIM:618961
Spondyloepimetaphyseal Dysplasia, Irapa Type
Osteoarthritis, Limitation of joint mobility, Abnormal rib morphology, Abnormal carpal morphology... ORPHA:93351
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly
Lateral clavicle hook, Trident acetabulum, Narrow chest, Short ribs, Acetabular spurs, Horizontal... OMIM:617405
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
Short neck, Reduced bone mineral density, Pectus carinatum, Abnormal bone ossification, Abnormal ... ORPHA:93315
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type
Platyspondyly, Scoliosis, Genu varum OMIM:618728
Myotonia With Skeletal Abnormalities And Mental Retardation
Vertebral wedging, Kyphoscoliosis OMIM:255710
Fetal Akinesia Deformation Sequence 4
11 pairs of ribs, Short neck, Kyphosis, Prenatal death, Camptodactyly, Neonatal death, Arthrogryp... OMIM:618393
Kyphoscoliosis-Lateral Tongue Atrophy-Hereditary Spastic Paraplegia Syndrome
Kyphoscoliosis ORPHA:496689
Muscular Dystrophy, Congenital Merosin-Deficient, 1A
Kyphoscoliosis OMIM:607855
Charcot-Marie-Tooth Disease Type 1A
Kyphoscoliosis ORPHA:101081
Congenital Myopathy 23
Kyphoscoliosis OMIM:609285
Congenital Disorder Of Glycosylation, Type Iig
Osteopenia, Thoracic scoliosis, Kyphoscoliosis, Short neck, Rib fusion, Posterior rib gap, Verteb... OMIM:611209
Spondyloepiphyseal Dysplasia Congenita
Barrel-shaped chest, Lumbar hyperlordosis, Ovoid vertebral bodies, Limited elbow movement, Short ... OMIM:183900
Osteogenesis Imperfecta, Type Xxi
Barrel-shaped chest, Recurrent fractures, Pectus excavatum, Osteoporosis, Bell-shaped thorax, Pla... OMIM:619131
Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures
Kyphoscoliosis OMIM:617977
Wildervanck Syndrome
Fused cervical vertebrae OMIM:314600
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Lumbar hyperlordosis, Cupped ribs, Flat acetabular roof, Irregular vertebral endplates, Platyspon... OMIM:609616
Axial Spondylometaphyseal Dysplasia
Osteopenia, Aplasia/Hypoplasia of the ribs, Thoracic scoliosis, Aplasia/Hypoplasia of the vertebr... ORPHA:168549
Roussy-Lévy Syndrome
Kyphoscoliosis, Scoliosis ORPHA:3115
Microphthalmia, Syndromic 13
Kyphoscoliosis OMIM:300915
Verheij Syndrome
Branchial cyst, Vertebral fusion, Joint laxity, Short neck, Hemivertebrae, Hip dislocation, Scoli... OMIM:615583
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Vertebral fusion, Elbow contracture, Hyperlordosis, Kyphosis, Achilles tendon contracture, Scoliosis OMIM:606612
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Abnormal clavicle morphology, Short neck, Abnormal rib morphology, Platyspondyly, Narrow chest, D... ORPHA:93267
Wildervanck Syndrome
Fused cervical vertebrae, Meningocele, Short neck ORPHA:3456
Smith-Mccort Dysplasia 1
Barrel-shaped chest, Multicentric femoral head ossification, Hypoplastic scapulae, Short neck, Hy... OMIM:607326
Vertebral Hypersegmentation And Orofacial Anomalies
Pectus excavatum, Scapular winging, Supernumerary ribs, Six lumbar vertebrae OMIM:619122
Roussy-Levy Hereditary Areflexic Dystasia
Kyphoscoliosis OMIM:180800
Septopreoptic Holoprosencephaly
Abnormal rib morphology, Abnormal vertebral morphology, Ethmoidal encephalocele ORPHA:280195
Hyperekplexia 4
Kyphoscoliosis OMIM:618011
Fibrochondrogenesis 2
Cupped ribs, Bell-shaped thorax, Platyspondyly, Short ribs, Thoracic hypoplasia OMIM:614524
Proximal 16P11.2 Microdeletion Syndrome
Craniosynostosis, Rib fusion, Abnormal vertebral morphology, Scoliosis ORPHA:261197
Spondyloepimetaphyseal Dysplasia, Strudwick Type
Anterior rib cupping, Hyperlordosis, Hypoplasia of the odontoid process, Pectus carinatum, Genu v... OMIM:184250
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Kyphoscoliosis OMIM:300886
Bruck Syndrome 2
Osteopenia, Flexion contracture, Elbow flexion contracture, Pectus carinatum, Increased susceptib... OMIM:609220
Multiple Epiphyseal Dysplasia, Beighton Type
Low back pain, Thoracic scoliosis, Abnormal acetabulum morphology, Joint stiffness, Thoracic plat... ORPHA:166011
Charcot-Marie-Tooth Disease, Axonal, Type 2X
Kyphoscoliosis OMIM:616668
White Forelock With Malformations
Delayed skeletal maturation, Abnormal rib morphology, Joint hyperflexibility, Sprengel anomaly, S... ORPHA:2475
Charcot-Marie-Tooth Disease, Type 4K
Kyphoscoliosis OMIM:616684
Lethal Congenital Contracture Syndrome Type 1
Recurrent fractures, Short neck, Limitation of joint mobility, Abnormal rib morphology, Abnormali... ORPHA:1486
Leukodystrophy, Hypomyelinating, 17
Kyphoscoliosis OMIM:618006
Intellectual Developmental Disorder, Autosomal Recessive 39
Kyphoscoliosis OMIM:615541
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome
Vertebral fusion, Elbow dislocation, Kyphosis, Hemivertebrae, Abnormal form of the vertebral bodi... ORPHA:2916
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type
Lumbar hyperlordosis, Ovoid vertebral bodies, Pectus excavatum, Limited elbow extension, Flat ace... OMIM:608728
Aarskog-Scott Syndrome
Genu recurvatum, Camptodactyly of finger, Short neck, Pectus excavatum, Joint hyperflexibility, U... ORPHA:915
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia
Delayed vertebral ossification, Thoracic kyphoscoliosis, Back pain, Kyphoscoliosis, Short neck, S... OMIM:613330
Thoracic Dysostosis, Isolated
Pectus excavatum, Short ribs, Bell-shaped thorax OMIM:187750
Microcephalic Osteodysplastic Dysplasia, Saul-Wilson Type
Irregularity of vertebral bodies, Platyspondyly, Hypoplasia of the odontoid process ORPHA:85172
Flynn-Aird Syndrome
Kyphoscoliosis OMIM:136300
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Kyphosis, Platyspondyly, Osteoporosis ORPHA:2786
Multiple Epiphyseal Dysplasia Type 5
Back pain, Osteoarthritis of the small joints of the hand, Abnormal acetabulum morphology, Decrea... ORPHA:93311
Brachyolmia Type 3
Barrel-shaped chest, Short neck, Kyphosis, Platyspondyly, Scoliosis OMIM:113500
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive
Hip osteoarthritis, Platyspondyly, Osteoarthritis OMIM:271600
Spondyloepimetaphyseal Dysplasia, Shohat Type
Joint laxity, Lumbar hyperlordosis, Short neck, Delayed epiphyseal ossification, Genu varum, Bell... OMIM:602557
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency
Kyphoscoliosis ORPHA:300179
Gm1-Gangliosidosis, Type Iii
Kyphosis, Platyspondyly, Scoliosis, Anterior beaking of lumbar vertebrae, Hypoplastic acetabulae OMIM:230650
Pseudoachondroplasia
Joint laxity, Lumbar hyperlordosis, Genu recurvatum, Limited hip extension, Spatulate ribs, Ulnar... OMIM:177170
Gorlin Syndrome
Vertebral fusion, Vertebral wedging, Hemivertebrae, Scoliosis ORPHA:377
Geroderma Osteodysplastica
Recurrent fractures, Vertebral compression fracture, Osteoporosis, Abnormal form of the vertebral... ORPHA:2078
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly
Multiple small vertebral fractures, Osteoporosis of vertebrae, Platyspondyly OMIM:156510
Ullrich Congenital Muscular Dystrophy 2
Kyphoscoliosis OMIM:616470
Osteogenesis Imperfecta, Type Ii
Recurrent fractures, Beaded ribs, Multiple prenatal fractures, Absent ossification of calvaria, T... OMIM:166210
Osteogenesis Imperfecta, Type Vi
Joint laxity, Protrusio acetabuli, Vertebral compression fracture, Increased susceptibility to fr... OMIM:613982
Proteus Syndrome
Spinal canal stenosis, Kyphoscoliosis OMIM:176920
Stuve-Wiedemann Syndrome 2
Death in adolescence, Stillbirth, Scoliosis, Camptodactyly, Neonatal death, Thoracic hypoplasia OMIM:619751
Microphthalmia, Syndromic 3
Vertebral fusion, Missing ribs, Rib fusion, Hemivertebrae, Supernumerary ribs, Butterfly vertebra... OMIM:206900
Osteogenesis Imperfecta, Type Xiii
Increased bone mineral density, Recurrent fractures, Kyphoscoliosis, Osteoporosis, Pectus carinat... OMIM:614856
Spondylometaphyseal Dysplasia, Kozlowski Type
Increased intervertebral space, Delayed epiphyseal ossification, Pectus carinatum, Thoracic kypho... ORPHA:93314
Ck Syndrome
Lumbar hyperlordosis, Kyphoscoliosis ORPHA:251383
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome
Abnormal intervertebral disk morphology, Joint stiffness, Osteoarthritis, Platyspondyly, Avascula... ORPHA:1345
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Ovoid vertebral bodies, Joint stiffness, Cupped ribs, Platyspondyly, Scoliosis, Severe platyspondyly OMIM:608940
Odontochondrodysplasia 1
Death in infancy, Biconvex vertebral bodies, Genu recurvatum, Osteoporosis, Flat acetabular roof,... OMIM:184260
Craniodiaphyseal Dysplasia
Abnormal rib morphology ORPHA:1513
Kbg Syndrome
Vertebral fusion, Short neck, Delayed skeletal maturation, Rib fusion, Vertebral arch anomaly, Ce... OMIM:148050
Mitochondrial Complex I Deficiency, Nuclear Type 8
Kyphoscoliosis OMIM:618230
Robinow Syndrome, Autosomal Recessive 1
Joint laxity, Vertebral fusion, Hypoplastic sacrum, Thoracolumbar scoliosis, Thoracic hemivertebr... OMIM:268310
Infantile Cataract, Skin Abnormalities, Glutamate Excess, And Impaired Intellectual Development
Kyphoscoliosis OMIM:618339
Odontochondrodysplasia
Death in infancy, Joint hyperflexibility, Platyspondyly, Narrow chest, Scoliosis ORPHA:166272
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Vertebral fusion, Hyperlordosis, Kyphosis, Achilles tendon contracture, Scoliosis OMIM:607155
Thanatophoric Dysplasia Type 2
Encephalocele, Kyphosis, Short thorax, Limitation of joint mobility, Joint hyperflexibility, Plat... ORPHA:93274
Arthrogryposis Multiplex Congenita 3, Myogenic Type
Kyphosis, Kyphoscoliosis, Scoliosis OMIM:618484
Laryngotracheoesophageal Cleft Type 4
Abnormal rib morphology, Abnormal form of the vertebral bodies ORPHA:93941
Congenital Muscular Dystrophy Without Intellectual Disability
Kyphoscoliosis ORPHA:370980
Mayer-Rokitansky-Küster-Hauser Syndrome
Vertebral fusion, Abnormal sacrum morphology, Abnormal form of the vertebral bodies, Vertebral se... ORPHA:3109
Spondyloepimetaphyseal Dysplasia, Missouri Type
Irregular sclerotic endplates, Osteoarthritis, Delayed skeletal maturation, Platyspondyly, Flared... OMIM:602111
Spondylocarpotarsal Synostosis Syndrome
Vertebral fusion, Scapular winging, Block vertebrae, Tarsal synostosis, Short neck, Hyperlordosis... OMIM:272460
Progressive Pseudorheumatoid Dysplasia
Arthropathy, Enlarged interphalangeal joints, Camptodactyly of finger, Kyphoscoliosis, Joint stif... OMIM:208230
Familial Congenital Mirror Movements
Fused cervical vertebrae ORPHA:238722
Pseudodiastrophic Dysplasia
Lumbar hyperlordosis, Phalangeal dislocation, Short neck, Elbow dislocation, Hypoplasia of the od... OMIM:264180
Otopalatodigital Syndrome Type 1
Increased bone mineral density, Elbow dislocation, Limitation of joint mobility, Abnormal vertebr... ORPHA:90650
Whistling Face Syndrome, Recessive Form
Kyphoscoliosis, Short neck OMIM:277720
Brown-Vialetto-Van Laere Syndrome 2
Kyphoscoliosis, Scoliosis OMIM:614707
Joint Laxity, Short Stature, And Myopia
Cervical kyphosis, Kyphoscoliosis OMIM:617662
Caudal Regression Syndrome
Joint stiffness, Missing ribs, Aplasia/Hypoplasia of the sacrum, Hypoplastic vertebral bodies, Sc... ORPHA:3027
Spondyloepimetaphyseal Dysplasia, Shohat Type
Joint laxity, Hyperlordosis, Short neck, Delayed epiphyseal ossification, Premature osteoarthriti... ORPHA:93352
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Increased bone mineral density, Ovoid vertebral bodies, Short neck, Wide anterior fontanel, Abnor... ORPHA:163649
Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant
Platyspondyly, Premature osteoarthritis OMIM:184840
Diastrophic Dysplasia
Joint dislocation, Abnormal clavicle morphology, Increased bone mineral density, Camptodactyly of... ORPHA:628
Osteogenesis Imperfecta, Type Xvi
Osteopenia, Multiple rib fractures, Recurrent fractures, Beaded ribs, Platyspondyly, Decreased ca... OMIM:616229
Mucopolysaccharidosis, Type X
Irregular acetabular roof, Spatulate ribs, Hyperlordosis, Broad clavicles, Genu valgum, Platyspon... OMIM:619698
Mucopolysaccharidosis, Type Ivb
Joint laxity, Ulnar deviation of the wrist, Ovoid vertebral bodies, Hyperlordosis, Joint stiffnes... OMIM:253010
Alkaptonuria
Arthropathy, Vertebral fusion, Low back pain, Kyphosis, Limited shoulder movement, Arthritis, Lim... OMIM:203500
Mucopolysaccharidosis Type 4
Joint dislocation, Hyperlordosis, Short neck, Kyphosis, Delayed skeletal maturation, Short thorax... ORPHA:582
Frontometaphyseal Dysplasia 1
Scapular winging, Interphalangeal joint contracture of finger, Limited elbow movement, Ankle flex... OMIM:305620
Lethal Kniest-Like Dysplasia
Anterior rib cupping, Short neck, Wide anterior fontanel, Abnormal cartilage morphology, Abnormal... ORPHA:2347
Kniest Dysplasia
Hip contracture, Enlarged joints, Short neck, Pectus excavatum, Abnormal cartilage collagen, Dela... OMIM:156550
Dental Anomalies And Short Stature
Delayed skeletal maturation, Platyspondyly, Herniation of intervertebral nuclei, Scoliosis, Narro... OMIM:601216
Thanatophoric Dysplasia, Type I
Small abnormally formed scapulae, Short neck, Wide-cupped costochondral junctions, Platyspondyly,... OMIM:187600
Mucolipidosis Iii Gamma
Hyperlordosis, Short neck, Kyphosis, Joint stiffness, Pectus carinatum, Genu valgum, Abnormal rib... OMIM:252605
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Lateral clavicle hook, Bell-shaped thorax, Thoracic dysplasia, Narrow chest, Horizontal ribs OMIM:615633
Lateral Meningocele Syndrome
Vertebral fusion, Short neck, Pectus excavatum, Kyphosis, Meningocele, Sclerosis of skull base, S... OMIM:130720
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Kyphoscoliosis, Hyperlordosis, Irregular vertebral endplates, Coronal cleft vertebrae, Scoliosis OMIM:618363
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia
Long clavicles, Lateral clavicle hook, Elbow dislocation, Anterior vertebral fusion, Shoulder dis... OMIM:171480
Scholte Syndrome
Kyphoscoliosis OMIM:300977
Congenital Disorder Of Glycosylation, Type Iik
Kyphoscoliosis OMIM:614727
Atelosteogenesis, Type I
Encephalocele, 11 pairs of ribs, Long clavicles, Short neck, Thoracic platyspondyly, Elbow disloc... OMIM:108720
Mosaic Trisomy 14
Abnormal rib morphology, Narrow chest, Short neck ORPHA:1703
Spondylometaphyseal Dysplasia, Pagnamenta Type
Delayed skeletal maturation, Platyspondyly, Wormian bones, Thoracic kyphosis OMIM:619638
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Abnormal rib morphology, Hemivertebrae, Abnormal form of the vertebral bodies, Scoliosis, Sprenge... ORPHA:2180
Charcot-Marie-Tooth Disease, Demyelinating, Type 1A
Kyphoscoliosis OMIM:118220
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies
Pectus excavatum, Hypoplastic distal segments of scapulae, Abnormal rib morphology, Joint hypermo... OMIM:602196
Hypophosphatasia, Infantile
Death in infancy, Craniosynostosis, Vertebral clefting, Increased susceptibility to fractures, Pl... OMIM:241500
Phaver Syndrome
Camptodactyly of finger, Joint stiffness, Myelomeningocele, Abnormal rib morphology, Abnormal for... ORPHA:2876
Metaphyseal Chondrodysplasia, Schmid Type
Lumbar hyperlordosis, Anterior rib cupping, Osteosclerosis of ribs, Irregular vertebral endplates... ORPHA:174
Hall-Riggs Syndrome
Kyphosis, Delayed skeletal maturation, Osteoporosis, Irregular vertebral endplates, Platyspondyly... OMIM:234250
Cantu Syndrome
Ovoid vertebral bodies, Short neck, Delayed skeletal maturation, Cuboid-shaped vertebral bodies, ... OMIM:239850
Autosomal Recessive Robinow Syndrome
Death in infancy, Sacral dimple, Camptodactyly of finger, Short neck, Pectus excavatum, Kyphosis,... ORPHA:1507
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
11 pairs of ribs, Platyspondyly, Decreased skull ossification, Thin ribs OMIM:300863
Achondrogenesis Type 1B
Short neck, Abnormal enchondral ossification, Short thorax, Abnormal rib morphology, Narrow chest... ORPHA:93298
Juberg-Hayward Syndrome
Abnormality of the elbow, Abnormal rib morphology, Radioulnar synostosis, Scoliosis, Abnormality ... ORPHA:2319
King-Denborough Syndrome
Lumbar hyperlordosis, Kyphoscoliosis, Short neck, Thoracic kyphosis, Scoliosis OMIM:619542
Dyggve-Melchior-Clausen Disease
Short neck, Flat glenoid fossa, Pectus carinatum, Thoracic kyphosis, Multicentric ossification of... OMIM:223800
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Death in infancy, Short neck, Delayed epiphyseal ossification, Delayed skeletal maturation, Flat ... OMIM:613320
Schwartz-Jampel Syndrome, Type 1
Hip contracture, Lumbar hyperlordosis, Congenital hip dislocation, Cervical kyphosis, Shoulder fl... OMIM:255800
Osteogenesis Imperfecta, Type Xviii
Joint laxity, Recurrent fractures, Joint hypermobility, Thin ribs, Biconcave vertebral bodies, Wo... OMIM:617952
Fibrochondrogenesis 1
Hypoplastic scapulae, Long clavicles, Anterior rib cupping, Short neck, Widely patent sagittal su... OMIM:228520
Charcot-Marie-Tooth Disease, Type 4B2
Kyphoscoliosis OMIM:604563
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Disc-like vertebral bodies, Ovoid vertebral bodies, Short neck, Flat acetabular roof, Thin ribs, ... OMIM:151210
Bruck Syndrome
Recurrent fractures, Joint stiffness, Kyphosis, Osteoporosis, Platyspondyly, Scoliosis, Wormian b... ORPHA:2771
Foxg1 Syndrome
Kyphoscoliosis, Scoliosis ORPHA:561854
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Missing ribs, Abnormal rib morphology, Hemivertebrae, Abnormal form of the vertebral bodies, Join... ORPHA:2759
Larsen Syndrome
Joint laxity, Vertebral fusion, Cervical kyphosis, Pectus excavatum, Elbow dislocation, Dislocate... OMIM:150250
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Osteopenia, Osteomyelitis, Osteolysis, Fused cervical vertebrae, Joint swelling, Flaring of rib c... OMIM:612852
Dyggve-Melchior-Clausen Disease
Glenoid fossa hypoplasia, Short neck, Horizontal inferior border of scapula, Hypoplasia of the od... ORPHA:239
Ollier Disease
Joint stiffness, Abnormal cartilage morphology, Bone pain, Osteolysis, Multiple enchondromatosis,... ORPHA:296
Grant Syndrome
Joint dislocation, Abnormal rib morphology, Decreased skull ossification, Joint hyperflexibility,... ORPHA:2097
Cole-Carpenter Syndrome 2
Osteopenia, Wide cranial sutures, Recurrent fractures, Pectus excavatum, Kyphosis, Thin ribs, Pla... OMIM:616294
Ehlers-Danlos Syndrome, Classic-Like, 2
Osteopenia, Thoracic scoliosis, Short neck, Facet joint arthrosis, Osteoarthritis, Generalized jo... OMIM:618000
Mosaic Trisomy 20
Vertebral fusion, Down-sloping shoulders, Kyphosis, Spinal canal stenosis, Fused cervical vertebr... ORPHA:1724
Osteogenesis Imperfecta, Type Iii
Protrusio acetabuli, Recurrent fractures, Severe generalized osteoporosis, Multiple prenatal frac... OMIM:259420
Charcot-Marie-Tooth Disease Type 4D
Kyphoscoliosis ORPHA:99950
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type
Joint laxity, Kyphoscoliosis, Hip subluxation, Kyphosis, Delayed epiphyseal ossification, General... ORPHA:93360
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Sprengel anomaly, Abnormality of the vertebral column, Abnormal rib morphology OMIM:601076
Osteogenesis Imperfecta, Type Xi
Kyphoscoliosis, Vertebral wedging, Biconcave vertebral bodies, Scoliosis, Vertebral compression f... OMIM:610968
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism
Thoracolumbar scoliosis, Short neck, Flexion contracture, Cervical C2/C3 vertebral fusion, Acetab... OMIM:616549
Cog1-Cdg
Osteopenia, Irregularity of vertebral bodies, Kyphoscoliosis, Short neck, Rib fusion, Posterior r... ORPHA:263508
Rhizomelic Chondrodysplasia Punctata, Type 1
Coronal cleft vertebrae, Kyphoscoliosis OMIM:215100
Holt-Oram Syndrome
Abnormal clavicle morphology, Down-sloping shoulders, Joint stiffness, Pectus excavatum, Kyphosis... ORPHA:392
Charcot-Marie-Tooth Disease, Demyelinating, Type 1B
Kyphoscoliosis OMIM:118200
Mucopolysaccharidosis, Type Iiia
Thickened ribs, Joint stiffness, Ovoid thoracolumbar vertebrae, Scoliosis, Umbilical hernia, Dens... OMIM:252900
Fibrochondrogenesis
Hypoplastic scapulae, Short neck, Wide anterior fontanel, Abnormal rib morphology, Abnormal form ... ORPHA:2021
Ataxia-Oculomotor Apraxia Type 4
Kyphoscoliosis ORPHA:459033
Paternal Uniparental Disomy Of Chromosome 5
Kyphoscoliosis ORPHA:96190
Lamb-Shaffer Syndrome
Fused cervical vertebrae, Thoracic kyphosis, Scoliosis ORPHA:530983
Cantú Syndrome
Ovoid vertebral bodies, Short neck, Accelerated skeletal maturation, Delayed skeletal maturation,... ORPHA:1517
Cooper-Jabs Syndrome
Camptodactyly of finger, Missing ribs, Abnormal rib morphology, Reduced bone mineral density, Joi... ORPHA:1488
Autosomal Recessive Stickler Syndrome
Irregular vertebral endplates, Platyspondyly, Joint hyperflexibility, Genu valgum ORPHA:250984
Lethal Congenital Contracture Syndrome 1
Neonatal death, Arthrogryposis multiplex congenita, Abnormal thorax morphology, Widening of cervi... OMIM:253310
Nevus Comedonicus Syndrome
Spina bifida occulta, Scoliosis, Abnormal vertebral morphology, Spina bifida ORPHA:64754
Smith-Mccort Dysplasia 2
Barrel-shaped chest, Enlarged interphalangeal joints, Hyperlordosis, Short neck, Hypoplasia of th... OMIM:615222
Spondyloepiphyseal Dysplasia Congenita
Barrel-shaped chest, Back pain, Abnormally ossified vertebrae, Lumbar hyperlordosis, Limited elbo... ORPHA:94068
Osteogenesis Imperfecta, Type X
Osteopenia, Multiple rib fractures, Thoracic scoliosis, Joint laxity, Generalized joint laxity, T... OMIM:613848
Warburg Micro Syndrome 1
Kyphoscoliosis OMIM:600118
Chondroectodermal Dysplasia With Night Blindness
Osteopenia, Abnormality of the knee, Fractures of the long bones, Delayed skeletal maturation, Os... ORPHA:319195
Infantile-Onset X-Linked Spinal Muscular Atrophy
Hip contracture, Interphalangeal joint contracture of finger, Ankle flexion contracture, Kyphosco... ORPHA:1145
Thanatophoric Dysplasia
Joint stiffness, Abnormal sacroiliac joint morphology, Kyphosis, Short thorax, Joint hyperflexibi... ORPHA:2655
Waardenburg Syndrome, Type 1
Spina bifida, Myelomeningocele, Supernumerary ribs, Supernumerary vertebrae, Sprengel anomaly OMIM:193500
1P36 Deletion Syndrome
11 pairs of ribs, Camptodactyly of finger, Joint stiffness, Kyphosis, Rib fusion, Spinal canal st... ORPHA:1606
Femoral-Facial Syndrome
Limited elbow movement, Missing ribs, Absent vertebra, Rib fusion, Hemivertebrae, Humeroradial sy... OMIM:134780
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Death in infancy, Vertebral segmentation defect, Abnormal rib morphology, Spina bifida ORPHA:1120
Achondrogenesis Type 1A
Multiple rib fractures, Recurrent fractures, Short neck, Abnormal enchondral ossification, Short ... ORPHA:93299
Greenberg Dysplasia
Beaded ribs, Multiple prenatal fractures, Patchy variation in bone mineral density, Hypoplastic v... OMIM:215140
Anauxetic Dysplasia 1
Barrel-shaped chest, Joint laxity, Hip contracture, Lumbar hyperlordosis, Short neck, Limited elb... OMIM:607095
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Pectus excavatum, Fused cervical vertebrae, Sprengel anomaly, Spina bifida occulta, Butterfly ver... OMIM:619227
Anauxetic Dysplasia 3
Thoracolumbar kyphoscoliosis, Pectus excavatum, Wide anterior fontanel, Genu valgum, Platyspondyl... OMIM:618853
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type
Abnormally ossified vertebrae, Restricted large joint movement, Platyspondyly, Delayed ossificati... ORPHA:93346
Stickler Syndrome, Type I
Arthropathy, Joint stiffness, Pectus excavatum, Kyphosis, Osteoarthritis, Arthritis, Platyspondyl... OMIM:108300
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Osteopenia, Multiple rib fractures, Fractured radius, Short neck, Beaded ribs, Multiple prenatal ... OMIM:616897
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Death in infancy, Platyspondyly, Thin ribs ORPHA:163966
Short Stature And Facioauriculothoracic Malformations
Abnormal odontoid process morphology, Short neck, Pectus excavatum, Pectus carinatum, Cervical ribs OMIM:609654
Jeune Syndrome
Abnormal clavicle morphology, Short thorax, Abnormal rib morphology, Abnormal sternum morphology,... ORPHA:474
Spondyloperipheral Dysplasia-Short Ulna Syndrome
Ovoid vertebral bodies, Abnormality of the vertebral endplates, Limited elbow extension, Platyspo... ORPHA:1856
Myopathic Ehlers-Danlos Syndrome
Kyphosis, Kyphoscoliosis, Scoliosis, Hyperlordosis ORPHA:536516
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy
Anterior rib cupping, Kyphoscoliosis, Short neck, Hypoplasia of the odontoid process, Delayed ske... OMIM:300232
Stickler Syndrome Type 1
Abnormal vertebral epiphysis morphology, Platyspondyly, Osteoarthritis, Joint hyperflexibility ORPHA:90653
Episodic Ataxia Type 1
Kyphoscoliosis, Scoliosis ORPHA:37612
Osteogenesis Imperfecta, Type Viii
Barrel-shaped chest, Osteopenia, Joint laxity, Recurrent fractures, Multiple prenatal fractures, ... OMIM:610915
Koolen-De Vries Syndrome
Vertebral fusion, Pectus excavatum, Kyphosis, Hip dislocation, Joint hyperflexibility, Vertebral ... ORPHA:96169
Cerebral Autosomal Recessive Arteriopathy-Subcortical Infarcts-Leukoencephalopathy
Back pain, Cervical spondylosis, Kyphoscoliosis ORPHA:199354
Mucopolysaccharidosis, Type Vii
Anterior beaking of lower thoracic vertebrae, Spatulate ribs, Short neck, Pectus excavatum, Hypop... OMIM:253220
Hypertrophic Neuropathy Of Dejerine-Sottas
Kyphoscoliosis, Scoliosis OMIM:145900
Dysosteosclerosis
Osteopenia, Sclerosis of hand bone, Sclerotic scapulae, Delayed closure of the anterior fontanell... OMIM:224300
Rhizomelic Dysplasia, Ain-Naz Type
Platyspondyly, Limitation of joint mobility OMIM:619598
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome
Platyspondyly, Osteoporosis ORPHA:71267
Pallister-Hall Syndrome
Radial head subluxation, Rib fusion, Hemivertebrae, Hip dislocation, Neonatal death OMIM:146510
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2
Increased vertebral height, Abnormal vertebral morphology, Kyphoscoliosis, Hyperlordosis OMIM:616817
Charcot-Marie-Tooth Disease, Type 4A
Kyphoscoliosis OMIM:214400
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome
Lumbar hyperlordosis, Thoracolumbar scoliosis, Kyphoscoliosis, Lumbar kyphosis in infancy, Thorac... ORPHA:3041
Cole-Carpenter Syndrome
Recurrent fractures, Kyphosis, Abnormal rib morphology, Abnormal form of the vertebral bodies, Jo... ORPHA:2050
Spondylo-Ocular Syndrome
Abnormal intervertebral disk morphology, Short neck, Osteoporosis, Joint hyperflexibility, Platys... ORPHA:85194
Central Core Disease
Kyphoscoliosis ORPHA:597
Richieri Costa-Da Silva Syndrome
Kyphoscoliosis, Short neck, Vertebral wedging, Decreased anterioposterior diameter of lumbar vert... ORPHA:3101
10Q22.3Q23.3 Microduplication Syndrome
Abnormal clavicle morphology, Abnormal rib morphology ORPHA:276422
Otopalatodigital Syndrome Type 2
Encephalocele, Increased bone mineral density, Tarsal synostosis, Camptodactyly of finger, Elbow ... ORPHA:90652
Robinow Syndrome
Fused thoracic vertebrae, Kyphoscoliosis, Missing ribs, Rib fusion, Hemivertebrae, Scoliosis, Umb... ORPHA:97360
Wolf-Hirschhorn Syndrome
Rib segmentation abnormalities, Sacral dimple, Kyphosis, Abnormal thorax morphology, Delayed skel... ORPHA:280
Basilar Impression, Primary
Kyphoscoliosis, Short neck OMIM:109500
Spondyloepimetaphyseal Dysplasia, Aggrecan Type
Barrel-shaped chest, Joint laxity, Lumbar hyperlordosis, Short neck, Platyspondyly OMIM:612813
Thin Ribs-Tubular Bones-Dysmorphism Syndrome
Abnormal rib morphology ORPHA:1506
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome
Sacral dimple, Rib fusion ORPHA:544488
Slc39A13-Related Spondylodysplastic Ehlers-Danlos Syndrome
Osteopenia, Platyspondyly, Flexion contracture ORPHA:157965
3M Syndrome
Scapular winging, Congenital hip dislocation, Short neck, Hyperlordosis, Increased vertebral heig... ORPHA:2616
Platyspondylic Dysplasia, Torrance Type
Hypoplastic scapulae, Short thorax, Abnormal carpal morphology, Platyspondyly, Narrow chest, Genu... ORPHA:85166
Fibrodysplasia Ossificans Progressiva
Small cervical vertebral bodies, Progressive cervical vertebral spine fusion, Ectopic ossificatio... OMIM:135100
Rahman Syndrome
Kyphoscoliosis OMIM:617537
Spinal Arteriovenous Metameric Syndrome
Abnormality of the vertebral column, Kyphoscoliosis ORPHA:53721
Chst3-Related Skeletal Dysplasia
Kyphoscoliosis, Scoliosis, Intervertebral space narrowing, Abnormal form of the vertebral bodies ORPHA:263463
Acromesomelic Dysplasia 4
Thoracic scoliosis, Lumbar hyperlordosis, Accelerated skeletal maturation, Thoracic platyspondyly... OMIM:619636
Melnick-Needles Syndrome
Delayed cranial suture closure, Short thorax, Abnormal rib morphology, Hip dislocation, Osteolyti... ORPHA:2484
Metaphyseal Chondrodysplasia, Schmid Type
Lumbar hyperlordosis, Distal tibial bowing, Genu valgum, Irregular vertebral endplates, Platyspon... OMIM:156500
Desbuquois Dysplasia 1
Joint dislocation, Joint laxity, Phalangeal dislocation, Hyperlordosis, Short neck, Kyphosis, Ost... OMIM:251450
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus
Barrel-shaped chest, Hyperlordosis, Hypoplasia of the odontoid process, Irregular carpal bones, O... OMIM:226980
Uruguay Faciocardiomusculoskeletal Syndrome
Kyphosis, Kyphoscoliosis, Scoliosis OMIM:300280
Thoracic Outlet Syndrome
Abnormal rib morphology ORPHA:97330
Achondrogenesis, Type Ia
Barrel-shaped chest, Hypoplastic scapulae, Hypoplastic sacrum, Beaded ribs, Short neck, Abnormal ... OMIM:200600
Spinocerebellar Ataxia, Autosomal Recessive 20
Kyphoscoliosis, Scoliosis OMIM:616354
Arthrogryposis, Distal, Type 3
Lumbar hyperlordosis, Thoracolumbar scoliosis, Kyphoscoliosis, Short neck, Scoliosis OMIM:114300
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome
Kyphoscoliosis OMIM:612079
Baller-Gerold Syndrome
Bicoronal synostosis, Limited elbow movement, Sagittal craniosynostosis, Craniosynostosis, Wide a... OMIM:218600
Chromosome 1P36 Deletion Syndrome, Distal
11 pairs of ribs, Camptodactyly of finger, Delayed closure of the anterior fontanelle, Wide anter... OMIM:607872
Leukodystrophy, Hypomyelinating, 3
Kyphoscoliosis OMIM:260600
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
Kyphoscoliosis, Scoliosis ORPHA:391307
Autosomal Recessive Spastic Paraplegia Type 23
Kyphoscoliosis ORPHA:101003
Joubert Syndrome 18
Kyphoscoliosis OMIM:614815
Thrombocytopenia-Absent Radius Syndrome
Aplasia/Hypoplasia of the patella, Hip dislocation, Fused cervical vertebrae, Cervical ribs, Pate... ORPHA:3320
Combined Oxidative Phosphorylation Deficiency 47
Platyspondyly, Short neck OMIM:618958
Mucopolysaccharidosis, Type Iiib
Thickened ribs, Ovoid thoracolumbar vertebrae, Dense calvaria, Joint stiffness OMIM:252920
Rhizomelic Dysplasia, Patterson-Lowry Type
Platyspondyly OMIM:601438
Cardiospondylocarpofacial Syndrome
Joint laxity, Tarsal synostosis, Delayed skeletal maturation, Rib fusion, Fused cervical vertebra... OMIM:157800
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Kyphoscoliosis ORPHA:3077
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3
Irregular vertebral endplates, Platyspondyly, Kyphoscoliosis OMIM:612350
Calvarial Doughnut Lesions With Bone Fragility
Osteopenia, Recurrent fractures, Osteoporosis, Platyspondyly, Scoliosis OMIM:126550
Czech Dysplasia
Flexion contracture, Limitation of joint mobility, Irregular vertebral endplates, Platyspondyly, ... OMIM:609162
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Missing ribs, Vertebral wedging, Platyspondyly, Decreased calvarial ossification, Short ribs, Tho... OMIM:617866
Lymphangiectasia, Intestinal
Stillbirth, Prominent floating ribs OMIM:152800
Craniodiaphyseal Dysplasia, Autosomal Dominant
Thickened ribs, Craniofacial osteosclerosis, Diaphyseal sclerosis, Cortical sclerosis OMIM:122860
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities
Death in infancy, Kyphoscoliosis, Pectus excavatum, Platyspondyly, Delayed ossification of carpal... OMIM:617425
Spondylometaphyseal Dysplasia, Algerian Type
Lumbar hyperlordosis, Anterior rib cupping, Kyphoscoliosis, Genu valgum, Platyspondyly, Carpal bo... OMIM:184253
Mucopolysaccharidosis, Type Iiic
Thickened ribs, Kyphoscoliosis, Joint stiffness, Ovoid thoracolumbar vertebrae, Beaking of verteb... OMIM:252930
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Sclerotic vertebral body, Kyphosis, Increased skull ossification, Craniofacial osteosclerosis, Di... OMIM:618476
Coffin-Siris Syndrome 6
Kyphoscoliosis OMIM:617808
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type
Wormian bones, Wide anterior fontanel, Platyspondyly OMIM:601356
Brachytelephalangic Chondrodysplasia Punctata
Stippling of the epiphyses of the distal phalanges of the hand, Calcaneal epiphyseal stippling, C... ORPHA:79345
Desbuquois Dysplasia 2
Joint laxity, Lumbar hyperlordosis, Short neck, Pectus excavatum, Radial head subluxation, Hip di... OMIM:615777
Geroderma Osteodysplasticum
Osteopenia, Hyperextensibility of the finger joints, Recurrent fractures, Kyphoscoliosis, Vertebr... OMIM:231070
Stapes Ankylosis With Broad Thumbs And Toes
Fused cervical vertebrae, Proximal/middle symphalangism of 5th finger OMIM:184460
Zttk Syndrome
Craniosynostosis, Kyphosis, Flexion contracture, Rib fusion, Hemivertebrae, Cervical ribs, Scolio... OMIM:617140
Bent Bone Dysplasia Syndrome 2
Osteopenia, Short neck, Thin ribs, Coronal cleft vertebrae, Platyspondyly, Decreased calvarial os... OMIM:620076
Koolen-De Vries Syndrome
Vertebral fusion, Prominent metopic ridge, Sacral dimple, Pectus excavatum, Kyphosis, Hip disloca... OMIM:610443
Atelosteogenesis Type I
Joint dislocation, Abnormal ossification involving the femoral head and neck, Coronal cleft verte... ORPHA:1190
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly
Joint dislocation, Thoracolumbar scoliosis, Ovoid vertebral bodies, Hyperlordosis, Horizontal rib... OMIM:618019
Developmental And Epileptic Encephalopathy 41
Kyphoscoliosis OMIM:617105
Spondyloperipheral Dysplasia
Barrel-shaped chest, Ovoid vertebral bodies, Short neck, Kyphosis, Flat acetabular roof, Pectus c... OMIM:271700
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome
Kyphosis, Abnormal rib morphology, Short neck, Pectus carinatum ORPHA:3082
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Kyphoscoliosis, Scoliosis, Short neck OMIM:300055
Intellectual Developmental Disorder, Autosomal Dominant 52
Scapular winging, Lumbar hyperlordosis, Pectus carinatum, Lumbar scoliosis, Cervical C2/C3 verteb... OMIM:617796
Congenital Pseudoarthrosis Of The Clavicle
Congenital pseudoarthrosis of the clavicle, Osteoarthritis, Cervical ribs ORPHA:66630
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Abnormally ossified vertebrae, Abnormal rib morphology ORPHA:3035
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2
Osteopenia, Joint laxity, Kyphoscoliosis, Pectus excavatum, Hip dislocation, Advanced ossificatio... OMIM:615349
Achondroplasia
Death in infancy, Lumbar hyperlordosis, Limited hip extension, Generalized joint laxity, Lumbar k... OMIM:100800
Sillence Syndrome
Back pain, Flat acetabular roof, Platyspondyly, Scoliosis, Camptodactyly, Abnormal vertebral morp... ORPHA:3168
Cat-Eye Syndrome
Abnormal rib morphology ORPHA:195
Dystonia-Deafness Syndrome 1
Kyphoscoliosis OMIM:607371
Faciodigitogenital Syndrome, Autosomal Recessive
Vertebral fusion, Down-sloping shoulders, Pectus excavatum, Hyperextensible hand joints, Abnormal... OMIM:227330
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh
Kyphoscoliosis, Scoliosis OMIM:619574
Congenital Cataracts, Facial Dysmorphism, And Neuropathy
Kyphoscoliosis OMIM:604168
Prune Belly Syndrome
Congenital hip dislocation, Pectus excavatum, Abnormal rib morphology, Vertebral segmentation def... ORPHA:2970
Dyssegmental Dysplasia, Silverman-Handmaker Type
Occipital encephalocele, Anisospondyly, Neonatal death, Pterygium, Thoracic hypoplasia OMIM:224410
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome
Hyperlordosis, Delayed skeletal maturation, Limitation of joint mobility, Abnormal rib morphology... ORPHA:3068
Cerebrooculofacioskeletal Syndrome 2
Kyphoscoliosis OMIM:610756
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Joint hyperflexibility, Decreased calvarial ossification, Abnormal rib morphology, Recurrent frac... ORPHA:2772
Idiopathic Juvenile Osteoporosis
Kyphosis, Vertebral compression fracture ORPHA:85193
Axial Mesodermal Dysplasia Spectrum
Abnormality of the knee, Short neck, Missing ribs, Abnormal rib morphology, Abnormal form of the ... ORPHA:1834
Mucopolysaccharidosis Type 6
Ovoid vertebral bodies, Joint stiffness, Short neck, Kyphosis, Genu valgum, Broad ribs ORPHA:583
Combined Oxidative Phosphorylation Deficiency 32
Kyphoscoliosis OMIM:617664
Cenani-Lenz Syndrome
Elbow dislocation, Abnormal rib morphology, Hip dislocation, Abnormal form of the vertebral bodie... ORPHA:3258
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech
Short neck, Pectus excavatum, Anterior scalloping of vertebral bodies, Delayed epiphyseal ossific... OMIM:611717
Wolf-Hirschhorn Syndrome
Rib segmentation abnormalities, Vertebral fusion, Sacral dimple, Kyphosis, Delayed skeletal matur... OMIM:194190
Three M Syndrome 2
Scapular winging, Lumbar hyperlordosis, Short neck, Hyperlordosis, Delayed skeletal maturation, S... OMIM:612921
Cerebrooculofacioskeletal Syndrome 1
Kyphoscoliosis OMIM:214150
Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis
Cervical C2/C3 vertebral fusion, Joint hypermobility, Camptodactyly OMIM:617333
Chromosome 8Q22.1 Duplication Syndrome
Enlarged interphalangeal joints, Genu recurvatum, Interphalangeal joint contracture of finger, Jo... OMIM:151200
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome
Kyphoscoliosis, Scoliosis, Short neck ORPHA:391408
Postaxial Acrofacial Dysostosis
Pectus excavatum, Supernumerary vertebrae OMIM:263750
Gm1-Gangliosidosis, Type Ii
Joint stiffness, Hypoplastic vertebral bodies, Platyspondyly, Scoliosis, Thoracolumbar kyphosis, ... OMIM:230600
Achondrogenesis, Type Ii
Barrel-shaped chest, Absent vertebral body mineralization, Stillbirth, Short ribs, Horizontal ribs OMIM:200610
Infantile Liver Failure Syndrome 3
Abnormal acetabulum morphology, Hypoplastic vertebral bodies, Platyspondyly, Death in childhood, ... OMIM:618641
3Q29 Microdeletion Syndrome
Pectus excavatum, Six lumbar vertebrae, Pectus carinatum ORPHA:65286
Monosomy 18P
Kyphoscoliosis, Short neck ORPHA:1598
Microcephalic Primordial Dwarfism, Toriello Type
Abnormal rib morphology ORPHA:2643
Acro-Renal-Mandibular Syndrome
Abnormal clavicle morphology, Hypoplastic scapulae, Short neck, Kyphosis, Hemivertebrae, Hip disl... ORPHA:958
Mucolipidosis Iii Alpha/Beta
Craniosynostosis, Irregular carpal bones, Short ribs, Scoliosis, Broad ribs, Shallow acetabular f... OMIM:252600
Spondylometaphyseal Dysplasia, Schmidt Type
Kyphoscoliosis, Abnormality of the vertebral column, Platyspondyly, Scoliosis ORPHA:93316
Gm1-Gangliosidosis, Type I
Death in infancy, Thickened ribs, Short neck, Joint stiffness, Kyphosis, Hypoplastic vertebral bo... OMIM:230500
Otospondylomegaepiphyseal Dysplasia
Abnormally ossified vertebrae, Lumbar hyperlordosis, Enlarged joints, Short neck, Osteoarthritis,... ORPHA:1427
Carpenter Syndrome
Kyphoscoliosis ORPHA:65759
Thanatophoric Dysplasia Type 1
Joint stiffness, Abnormal sacroiliac joint morphology, Kyphosis, Wide anterior fontanel, Platyspo... ORPHA:1860
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Biconcave vertebral bodies, Kyphoscoliosis, Scoliosis OMIM:236200
Holzgreve Syndrome
Abnormally ossified vertebrae, Abnormal rib morphology, Joint stiffness ORPHA:2167
Spastic Paraplegia 20, Autosomal Recessive
Kyphoscoliosis OMIM:275900
Charcot-Marie-Tooth Disease, Type 4D
Kyphoscoliosis OMIM:601455
Frontometaphyseal Dysplasia
Limitation of movement at ankles, Interphalangeal joint contracture of finger, Limited elbow move... ORPHA:1826
Saul-Wilson Syndrome
Pectus excavatum, Hypoplasia of the odontoid process, Wide anterior fontanel, Madelung deformity,... OMIM:618150
Dysosteosclerosis
Increased bone mineral density, Recurrent fractures, Hypoplastic vertebral bodies, Irregular vert... ORPHA:1782
Hypophosphatasia
Recurrent fractures, Abnormal rib morphology, Narrow chest, Craniosynostosis ORPHA:436
Alagille Syndrome
Delayed skeletal maturation, Abnormal rib morphology, Abnormal form of the vertebral bodies, Vert... ORPHA:52
Lowry-Wood Syndrome
Joint stiffness, Elbow dislocation, Delayed skeletal maturation, Platyspondyly, Patellar dislocat... ORPHA:1824
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Osteopenia, Short neck, Accelerated skeletal maturation, Multiple joint dislocation, Pectus carin... OMIM:245600
Primary Dystonia, Dyt4 Type
Kyphoscoliosis ORPHA:98805
Osteoporosis-Pseudoglioma Syndrome
Barrel-shaped chest, Osteopenia, Recurrent fractures, Kyphoscoliosis, Kyphosis, Osteoporosis, Inc... OMIM:259770
Cleidocranial Dysplasia
Hypoplastic scapulae, Down-sloping shoulders, Recurrent fractures, Abnormal sacrum morphology, Ab... ORPHA:1452
Familial Osteodysplasia, Anderson Type
Recurrent fractures, Aplastic clavicle, Missing ribs, Elbow dislocation, Kyphosis, Abnormal rib m... ORPHA:2769
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive
Lumbar hyperlordosis, Enlarged joints, Flexion contracture, Premature osteoarthritis, Coronal cle... OMIM:215150
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome
Osteopenia, Abnormality of the knee, Thoracolumbar scoliosis, Kyphoscoliosis, Hyperlordosis, Thor... ORPHA:457395
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome
Kyphoscoliosis ORPHA:75496
Allan-Herndon-Dudley Syndrome
Kyphoscoliosis ORPHA:59
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Lumbar hyperlordosis, Kyphosis, Wide anterior fontanel, Platyspondyly, Narrow chest, Neonatal death OMIM:616482
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness
Joint laxity, Lumbar hyperlordosis, Cupped ribs, Flat glenoid fossa, Irregular chondrocostal junc... OMIM:250420
Spondylometaphyseal Dysplasia, Sedaghatian Type
Abnormal scapula morphology, Accelerated skeletal maturation, Delayed skeletal maturation, Abnorm... ORPHA:93317
Arnold-Chiari Malformation Type I
Stiff neck, Myelopathy, Fused cervical vertebrae, Scoliosis, Cervical C2/C3 vertebral fusion, Ant... ORPHA:268882
Spondyloepimetaphyseal Dysplasia, Sponastrime Type
Osteopenia, Lumbar hyperlordosis, Kyphoscoliosis, Laryngotracheomalacia, Delayed skeletal maturat... OMIM:271510
Schwartz-Jampel Syndrome
Short neck, Pectus carinatum, Wrist flexion contracture, Death in infancy, Abnormally ossified ve... ORPHA:800
Larsen-Like Syndrome
Kyphoscoliosis OMIM:608545
Kyphomelic Dysplasia
Anterior rib cupping, Lateral clavicle hook, Limitation of joint mobility, Undulate ribs, Flat ac... OMIM:211350
Occipital Horn Syndrome
Joint laxity, Persistent open anterior fontanelle, Broad clavicles, Pectus excavatum, Kyphosis, C... OMIM:304150
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome
Cervical C2/C3 vertebral fusion ORPHA:370010
Cerebrooculofacioskeletal Syndrome 4
Abnormality of the vertebral column, Kyphoscoliosis OMIM:610758
Opsismodysplasia
Anterior rib cupping, Short neck, Hypoplasia of the odontoid process, Flat acetabular roof, Bell-... OMIM:258480
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type
Short neck, Pectus carinatum, Knee flexion contracture, Abnormal calcification of the carpal bone... OMIM:271665
19P13.3 Microduplication Syndrome
Kyphoscoliosis ORPHA:447980
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Osteopenia, Increased bone mineral density, Wide anterior fontanel, Vertebral arch anomaly, Wormi... ORPHA:85184
Mosaic Trisomy 8
Camptodactyly of finger, Short neck, Limitation of joint mobility, Abnormal rib morphology, Patel... ORPHA:96061
Campomelia, Cumming Type
Abnormally ossified vertebrae, Death in infancy, Abnormal thorax morphology, Abnormal rib morphology ORPHA:1318
Contractural Arachnodactyly, Congenital
Kyphoscoliosis, Congenital kyphoscoliosis, Scoliosis, Short neck OMIM:121050
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
Short neck, Delayed proximal femoral epiphyseal ossification, Flexion contracture, Irregular vert... OMIM:271640
Poland Syndrome
Encephalocele, Aplasia/Hypoplasia of the sternum, Missing ribs, Short neck, Kyphosis, Abnormal ri... ORPHA:2911
13Q12.3 Microdeletion Syndrome
Kyphoscoliosis ORPHA:412035
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly
Kyphoscoliosis OMIM:620075
Hall-Riggs Syndrome
Delayed skeletal maturation, Platyspondyly, Scoliosis, Joint stiffness ORPHA:2107
Simpson-Golabi-Behmel Syndrome
Vertebral fusion, Death in infancy, Congenital hip dislocation, Camptodactyly of finger, Short ne... ORPHA:373
Tetrasomy 15Q26
Kyphoscoliosis OMIM:614846
Congenital Contractural Arachnodactyly
Congenital kyphoscoliosis, Scoliosis ORPHA:115
Trisomy 20P
Camptodactyly of finger, Spina bifida, Short neck, Kyphosis, Abnormal form of the vertebral bodie... ORPHA:261318
Vacterl/Vater Association
Occipital encephalocele, Abnormal intervertebral disk morphology, Abnormal sacrum morphology, Abn... ORPHA:887
Craniometadiaphyseal Dysplasia
Osteopenia, Cubitus valgus, Genu valgum, Sclerosis of skull base, Scoliosis, Wormian bones, Broad... OMIM:269300
Spondyloenchondrodysplasia With Immune Dysregulation
Barrel-shaped chest, Lumbar hyperlordosis, Kyphoscoliosis, Increased intervertebral space, Irregu... OMIM:607944
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Osteopenia, Multiple joint contractures, Multiple joint dislocation, Pectus carinatum, Large join... ORPHA:536467
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type
Osteopenia, Thoracolumbar scoliosis, Craniosynostosis, Short neck, Delayed skeletal maturation, P... OMIM:616723
Blomstrand Lethal Chondrodysplasia
Increased bone mineral density, Aplastic clavicle, Accelerated skeletal maturation, Short thorax,... ORPHA:50945
Sifrim-Hitz-Weiss Syndrome
Wormian bones, Fused cervical vertebrae, Short clavicles, Flat acetabular roof OMIM:617159
Crisponi/Cold-Induced Sweating Syndrome 1
Kyphoscoliosis, Short neck OMIM:272430
Renpenning Syndrome
Pectus excavatum, Sprengel anomaly, Abnormal rib morphology, Joint stiffness ORPHA:3242
Shashi-Pena Syndrome
Accelerated skeletal maturation, Kyphosis, Osteoporosis, Scoliosis, Cervical C2/C3 vertebral fusion OMIM:617190
Cartilage-Hair Hypoplasia
Abnormally ossified vertebrae, Biconvex vertebral bodies, Sacral dimple, Flaring of lower rib cag... ORPHA:175
Arthrogryposis, Distal, Type 2A
Kyphoscoliosis, Spina bifida occulta, Scoliosis, Short neck OMIM:193700
X-Linked Dominant Chondrodysplasia Punctata
Neuropathic spinal arthropathy, Abnormally ossified vertebrae, Hypoplastic cervical vertebrae, Ky... ORPHA:35173
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Lumbar hyperlordosis, Kyphoscoliosis, Sagittal craniosynostosis, Rib fusion, Hemivertebrae, Hyper... ORPHA:500150
Chondrodysplasia Punctata 2, X-Linked Dominant
Kyphoscoliosis, Short neck, Punctate vertebral calcifications, Hemivertebrae, Scoliosis OMIM:302960
Osteogenesis Imperfecta
Osteopenia, Cervical kyphosis, Osteoarthritis, Flexion contracture, Bone pain, Abnormal form of t... ORPHA:666
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Aplasia/Hypoplasia of the ribs, Thoracic scoliosis, Cervical hemivertebrae, Spina bifida, Short n... ORPHA:508498
Gm1 Gangliosidosis Type 1
Spatulate ribs, Pectus carinatum, Hypoplastic vertebral bodies, Platyspondyly, Beaking of vertebr... ORPHA:79255
Phosphoribosylaminoimidazole Carboxylase Deficiency
Neonatal death, Lumbar hemivertebrae, Short neck, Missing ribs OMIM:619859
Osteogenesis Imperfecta, Type Xvii
Joint laxity, Recurrent fractures, Kyphoscoliosis, Osteoporosis, Hip dislocation, Reduced bone mi... OMIM:616507
Myhre Syndrome
Vertebral fusion, Short neck, Joint stiffness, Limitation of joint mobility, Enlarged vertebral p... OMIM:139210
Ossification Anomalies-Psychomotor Developmental Delay Syndrome
Abnormal thorax morphology, Abnormal form of the vertebral bodies, Thin ribs, Narrow chest, Abnor... ORPHA:73230
Emanuel Syndrome
Sacral dimple, Kyphoscoliosis, Scoliosis ORPHA:96170
Mucopolysaccharidosis, Type Vi
Lumbar hyperlordosis, Ovoid vertebral bodies, Kyphoscoliosis, Joint stiffness, Anterior wedging o... OMIM:253200
Schimke Immunoosseous Dysplasia
Osteopenia, Lumbar hyperlordosis, Ovoid vertebral bodies, Short neck, Platyspondyly, Thoracic kyp... OMIM:242900
Galloway-Mowat Syndrome 7
Kyphoscoliosis OMIM:618348
Shprintzen-Goldberg Craniosynostosis Syndrome
Osteopenia, Joint laxity, Genu recurvatum, Craniosynostosis, Lateral clavicle hook, Pectus excava... OMIM:182212
Osteogenesis Imperfecta, Type Vii
Osteopenia, Multiple rib fractures, Wide cranial sutures, Death in infancy, Recurrent fractures, ... OMIM:610682
Atypical Progressive Supranuclear Palsy Syndrome
Kyphoscoliosis ORPHA:99750
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Kyphoscoliosis ORPHA:324410
Antley-Bixler Syndrome
Recurrent fractures, Craniosynostosis, Joint stiffness, Camptodactyly of finger, Abnormal rib mor... ORPHA:83
Cartilage-Hair Hypoplasia
Joint laxity, Lumbar hyperlordosis, Flaring of lower rib cage, Hypoplasia of the odontoid process... OMIM:250250
X-Linked Hypophosphatemia
Craniosynostosis, Beaded ribs, Generalized osteosclerosis, Enlargement of the costochondral junct... ORPHA:89936
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Thoracic hypoplasia, Lateral clavicle hook, Short ribs, Narrow chest, Horizontal ribs OMIM:617895
Trisomy 13
Kyphosis, Abnormal rib morphology, Narrow chest, Scoliosis ORPHA:3378
Duane Retraction Syndrome
Short neck, Spina bifida occulta, Abnormal form of the vertebral bodies, Camptodactyly, Abnormal ... ORPHA:233
Pyknoachondrogenesis
Abnormal intramembranous ossification, Short thorax, Poorly ossified vertebrae, Enlarged thorax, ... ORPHA:3003
3Q27.3 Microdeletion Syndrome
Kyphoscoliosis ORPHA:397695
Radio-Renal Syndrome
Abnormality of the elbow, Abnormal rib morphology, Abnormal form of the vertebral bodies, Short neck ORPHA:3015
Cerebrocostomandibular Syndrome
Death in infancy, Spina bifida, Tracheomalacia, Kyphosis, Myelomeningocele, Meningocele, Posterio... ORPHA:1393
Tetraamelia-Multiple Malformations Syndrome
Abnormally ossified vertebrae, Abnormal rib morphology, Missing ribs ORPHA:3301
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Cupped ribs, Platyspondyly, Ovoid vertebral bodies, Scoliosis ORPHA:85167
Craniosynostosis, Herrmann-Opitz Type
Abnormal rib morphology ORPHA:2145
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
Large placenta, Umbilical hernia, Thoracic hypoplasia, Coat hanger sign of ribs ORPHA:254534
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Broad ribs, Abnormal sternum morphology, Abnormal rib morphology, Short ribs ORPHA:2519
Hurler Syndrome
Abnormal clavicle morphology, Death in infancy, Camptodactyly of finger, Short neck, Limitation o... ORPHA:93473
Alpha-Mannosidosis, Infantile Form
Osteopenia, Joint laxity, Thickened ribs, Craniosynostosis, Short neck, Pectus excavatum, Joint s... ORPHA:309282
Kenny-Caffey Syndrome, Type 1
Long clavicles, Delayed closure of the anterior fontanelle, Thin clavicles, Delayed skeletal matu... OMIM:244460
Sacral Agenesis With Vertebral Anomalies
Absence of the sacrum, Vertebral clefting, Abnormal vertebral morphology OMIM:615709
Warburg Micro Syndrome 3
Kyphoscoliosis OMIM:614222
Musculocontractural Ehlers-Danlos Syndrome
Cervical kyphosis, Kyphoscoliosis, Scoliosis, Abnormality of the cervical spine, Atlantoaxial dis... ORPHA:2953
Duane-Radial Ray Syndrome
Fused cervical vertebrae, Shoulder dislocation, Spina bifida occulta, Scoliosis OMIM:607323
Autosomal Recessive Kenny-Caffey Syndrome
Thin clavicles, Delayed skeletal maturation, Thin ribs, Decreased skull ossification, Calvarial o... ORPHA:93324
Intellectual Disability-Coarse Face-Macrocephaly-Cerebellar Hypotrophy Syndrome
Neuropathic spinal arthropathy, Kyphoscoliosis ORPHA:397709
Fanconi Anemia, Complementation Group I
Fused cervical vertebrae, Short neck OMIM:609053
Congenital Myopathy 22B, Severe Fetal
Hip contracture, Scapular winging, Thoracic scoliosis, Limb joint contracture, Shoulder flexion c... OMIM:620369
Osteogenesis Imperfecta, Type Xx
Vertebral compression fracture, Kyphoscoliosis OMIM:618644
Spinocerebellar Ataxia, Autosomal Recessive 31
Lumbar kyphoscoliosis OMIM:619422
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Lateral clavicle hook, Pectus carinatum, Platyspondyly, Thoracic dysplasia, Short ribs, Narrow ch... OMIM:263520
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Neonatal death, Posterior rib fusion, Butterfly vertebrae OMIM:265380
Osteogenesis Imperfecta, Type Iv
Recurrent fractures, Biconcave flattened vertebrae, Kyphosis, Increased susceptibility to fractur... OMIM:166220
Spondylodysplastic Ehlers-Danlos Syndrome
Osteopenia, Joint dislocation, Multiple joint contractures, Generalized joint laxity, Flexion con... ORPHA:536471
Meier-Gorlin Syndrome 1
Genu recurvatum, Lateral clavicle hook, Flat glenoid fossa, Flexion contracture, Hemivertebrae, P... OMIM:224690
Camptodactyly Syndrome, Guadalajara Type 3
Osteopenia, Short neck, Delayed skeletal maturation, Abnormal rib morphology, Spina bifida occulta ORPHA:488434
Chromosome 2P16.1-P15 Deletion Syndrome
Kyphoscoliosis OMIM:612513
Ane Syndrome
Kyphoscoliosis ORPHA:157954
Tatton-Brown-Rahman Syndrome
Kyphoscoliosis ORPHA:404443
Monosomy 9Q22.3
Short neck, Pectus excavatum, Kyphosis, Accelerated skeletal maturation, Abnormal rib morphology,... ORPHA:77301
Acrootoocular Syndrome
Kyphoscoliosis ORPHA:2980
Autosomal Recessive Spastic Paraplegia Type 77
Kyphoscoliosis ORPHA:466722
Aneurysm-Osteoarthritis Syndrome
Joint laxity, Osteoarthritis of the small joints of the hand, Protrusio acetabuli, Camptodactyly ... ORPHA:284984
Bone Fragility With Contractures, Arterial Rupture, And Deafness
Osteopenia, Contracture of the proximal interphalangeal joint of the 2nd finger, Elbow flexion co... OMIM:612394
Kagami-Ogata Syndrome
Kyphoscoliosis OMIM:608149
Occipital Horn Syndrome
Osteopenia, Down-sloping shoulders, Aplastic clavicle, Osteomalacia, Pectus excavatum, Kyphosis, ... ORPHA:198
Pallister-Hall Syndrome
Radial head subluxation, Rib fusion, Hemivertebrae, Hip dislocation, Distal arthrogryposis, Umbil... ORPHA:672
Autosomal Dominant Popliteal Pterygium Syndrome
Popliteal pterygium, Abnormal rib morphology, Scoliosis, Joint stiffness ORPHA:1300
Intellectual Developmental Disorder, Autosomal Recessive 78
Kyphoscoliosis OMIM:620237
Congenital Myasthenic Syndrome
Neuropathic spinal arthropathy, Kyphoscoliosis, Spinal rigidity ORPHA:590
Presynaptic Congenital Myasthenic Syndromes
Neuropathic spinal arthropathy, Kyphoscoliosis, Spinal rigidity ORPHA:98914
Cardiac-Valvular Ehlers-Danlos Syndrome
Thoracolumbar scoliosis, Kyphoscoliosis ORPHA:230851
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type
Vertebral compression fracture, Kyphoscoliosis, Scoliosis, Short neck OMIM:309583
Pontocerebellar Hypoplasia, Type 10
Kyphoscoliosis, Short neck OMIM:615803
Thrombocytopenia-Absent Radius Syndrome
Death in infancy, Spina bifida, Lateral clavicle hook, Patellar aplasia, Hip dislocation, Abnorma... OMIM:274000
Spondyloenchondrodysplasia
Kyphosis, Pectus carinatum, Arthritis, Platyspondyly, Juvenile rheumatoid arthritis, Lower limb pain ORPHA:1855
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Kyphosis, Kyphoscoliosis, Hemivertebrae, Scoliosis OMIM:301040
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Thoracic scoliosis, Kyphoscoliosis ORPHA:300570
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1
Osteopenia, Joint dislocation, Joint laxity, Congenital hip dislocation, Protrusio acetabuli, Kyp... OMIM:225400
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development
Arthrogryposis multiplex congenita, Decreased calvarial ossification, Craniosynostosis, Thin ribs OMIM:618265
Nestor-Guillermo Progeria Syndrome
Wide cranial sutures, Limited elbow movement, Delayed closure of the anterior fontanelle, Joint s... OMIM:614008
Spondylometaphyseal Dysplasia, Sedaghatian Type
11 pairs of ribs, Short neck, Cupped ribs, Horizontal inferior border of scapula, Delayed epiphys... OMIM:250220
Schimmelpenning-Feuerstein-Mims Syndrome
Kyphoscoliosis OMIM:163200
You-Hoover-Fong Syndrome
Kyphoscoliosis OMIM:616954
Thakker-Donnai Syndrome
Cervical C2/C3 vertebral fusion, Hemivertebrae, Short neck ORPHA:1780
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Sacral dimple, Lumbar hyperlordosis, Limited elbow movement, Craniosynostosis, Increased interver... ORPHA:508533
Apert Syndrome
Sagittal craniosynostosis, Limited elbow movement, Craniosynostosis, Delayed epiphyseal ossificat... OMIM:101200
Loeys-Dietz Syndrome 6
Hip osteoarthritis, Knee osteoarthritis, Scoliosis, Intervertebral disc degeneration OMIM:619656
Spondyloocular Syndrome
Osteopenia, Pectus carinatum, Shield chest, Platyspondyly, Vertebral compression fracture OMIM:605822
Gm1 Gangliosidosis
Camptodactyly of finger, Hyperlordosis, Joint stiffness, Kyphosis, Abnormal form of the vertebral... ORPHA:354
Multiple Pterygium-Malignant Hyperthermia Syndrome
Prominent metopic ridge, Camptodactyly of finger, Pectus excavatum, Kyphosis, Abnormal rib morpho... ORPHA:2215
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion
Joint laxity, Pectus excavatum, Large placenta, Flexion contracture, Prominent sternum, Coat hang... ORPHA:254528
Charcot-Marie-Tooth Disease Type 4B2
Kyphoscoliosis, Scoliosis ORPHA:99956
Otopalatodigital Syndrome, Type Ii
Congenital hip dislocation, Wormian bones, Elbow contracture, Spina bifida, Short neck, Pectus ex... OMIM:304120
Lenz-Majewski Hyperostotic Dwarfism
Joint laxity, Hyperextensibility of the finger joints, Broad clavicles, Delayed skeletal maturati... OMIM:151050
Autosomal Recessive Spastic Paraplegia Type 9B
Kyphoscoliosis ORPHA:447760
Spondyloepimetaphyseal Dysplasia, X-Linked
Joint laxity, Lumbar hyperlordosis, Hypoplasia of the odontoid process, Kyphosis, Limited elbow e... OMIM:300106
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
Osteopenia, Pectus excavatum, Delayed skeletal maturation, Thin ribs, Lumbar hemivertebrae, Abnor... ORPHA:2463
Kagami-Ogata Syndrome
Kyphoscoliosis, Short neck, Large placenta, Limitation of joint mobility, Bell-shaped thorax, Coa... ORPHA:254519
Aspergillosis
Abnormality of the vertebral column, Abnormal rib morphology ORPHA:1163
X-Linked Myotubular Myopathy-Abnormal Genitalia Syndrome
Joint hypermobility, Thin ribs ORPHA:456328
Acro-Renal-Ocular Syndrome
Vertebral fusion, Vertebral segmentation defect ORPHA:959
Frontometaphyseal Dysplasia 2
Hip contracture, Congenital hip dislocation, Elbow contracture, Pectus excavatum, Fused cervical ... OMIM:617137
Acrorenal-Mandibular Syndrome
Hypoplastic scapulae, Kyphoscoliosis, Missing ribs, Hemivertebrae, Hip dislocation, Elbow flexion... OMIM:200980
Pseudoleprechaunism Syndrome, Patterson Type
Abnormal odontoid process morphology, Kyphoscoliosis ORPHA:2976
Non-Acquired Combined Pituitary Hormone Deficiency-Sensorineural Hearing Loss-Spine Abnormalities Syndrome
Thoracolumbar kyphoscoliosis, Short neck ORPHA:231720
Severe Congenital Nemaline Myopathy
Multiple prenatal fractures, Abnormal thorax morphology, Flexion contracture, Thin ribs, Arthrogr... ORPHA:171430
Lethal Congenital Contracture Syndrome 5
Congenital contracture, Flexion contracture, Thin ribs OMIM:615368
Sclerosteosis 1
Broad ribs, Sclerotic vertebral endplates, Sclerotic scapulae, Broad clavicles OMIM:269500
Lethal Congenital Contracture Syndrome 10
Thoracic scoliosis, Stiff neck, Short neck, Narrow chest, Broad ribs OMIM:617022
Mevalonic Aciduria
Kyphoscoliosis OMIM:610377
Robinow Syndrome, Autosomal Dominant 2
Sacral dimple, Kyphoscoliosis OMIM:616331
Classical-Like Ehlers-Danlos Syndrome Type 2
Kyphosis, Thoracic scoliosis, Sacral dimple, Kyphoscoliosis ORPHA:536532
Myotubular Myopathy With Abnormal Genital Development
Neonatal death, Joint hypermobility, Thin ribs OMIM:300219
Acrocapitofemoral Dysplasia
Lumbar hyperlordosis, Ovoid vertebral bodies, Pectus excavatum, Cupped ribs, Pectus carinatum, De... OMIM:607778
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Flexion contracture, Narrow chest, Abnormality of the wrist, Abnormal vertebral morphology, Elbow... ORPHA:95699
Congenital Disorder Of Glycosylation With Defective Fucosylation 1
Kyphoscoliosis OMIM:618005
Schimke Immuno-Osseous Dysplasia
Lumbar hyperlordosis, Ovoid vertebral bodies, Short neck, Platyspondyly, Shallow acetabular fossae ORPHA:1830
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Horizontal inferior border of scapula, Platyspondyly, Anterior rib cupping OMIM:102700
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Flexion contracture, Thin ribs OMIM:614833
Marshall-Smith Syndrome
Thoracic scoliosis, Kyphoscoliosis, Kyphosis, Hypoplasia of the odontoid process, Thoracic kyphos... OMIM:602535
Fibrous Dysplasia Of Bone
Abnormal clavicle morphology, Osteomalacia, Bone pain, Abnormal rib morphology, Rickets, Osteolys... ORPHA:249
Mucopolysaccharidosis, Type Iiid
Thoracic scoliosis, Thickened ribs, Pilonidal sinus, Short neck, Joint stiffness, Achilles tendon... OMIM:252940
Monosomy 18Q
Atlantoaxial abnormality, Kyphoscoliosis ORPHA:1600
Multicentric Osteolysis, Nodulosis, And Arthropathy
Vertebral compression fracture, C1-C2 subluxation, Kyphoscoliosis OMIM:259600
Arthrogryposis Multiplex Congenita 5
Kyphoscoliosis, Scoliosis, Short neck OMIM:618947
Osteogenesis Imperfecta, Type I
Osteopenia, Recurrent fractures, Biconcave flattened vertebrae, Increased susceptibility to fract... OMIM:166200
Loeys-Dietz Syndrome 5
Spondylolisthesis, Kyphoscoliosis, Cervical spine instability OMIM:615582
Hajdu-Cheney Syndrome
Kyphoscoliosis, Short neck, Tall lumbar vertebral bodies, Biconcave vertebral bodies, Cervical in... OMIM:102500
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Thoracic hypoplasia, Lateral clavicle hook, Short ribs, Scoliosis, Acetabular spurs, Horizontal ribs OMIM:613091
Split Cord Malformation
Back pain, Abnormal thoracic spine morphology, Low back pain, Kyphoscoliosis, Hyperlordosis, Hemi... ORPHA:573278
Myhre Syndrome
Platyspondyly, Abnormal rib morphology, Joint stiffness ORPHA:2588
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Bell-shaped thorax, Horizontal ribs OMIM:614857
Ellis-Van Creveld Syndrome
Capitate-hamate fusion, Pectus carinatum, Genu valgum, Short ribs, Narrow chest, Acetabular spurs... OMIM:225500
Premature Aging Syndrome, Penttinen Type
Recurrent fractures, Hyperextensibility of the knee, Delayed skeletal maturation, Osteoporosis, T... OMIM:601812
Cerebrocostomandibular Syndrome
Rib gap, 10 pairs of ribs, 11 pairs of ribs, Congenital hip dislocation, Anomalous rib insertion ... OMIM:117650
Van Den Ende-Gupta Syndrome
Sacral dimple, Hypoplastic scapulae, Glenoid fossa hypoplasia, Craniosynostosis, Lateral clavicle... OMIM:600920
Craniotubular Dysplasia, Ikegawa Type
Increased intervertebral space, Broad ribs, Platyspondyly, Sclerosis of skull base OMIM:619727
Apert Syndrome
Vertebral segmentation defect, Cervical C5/C6 vertebrae fusion ORPHA:87
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Lumbar hyperlordosis, Kyphoscoliosis, Short neck, Kyphosis, Irregular vertebral endplates, Corona... OMIM:143095
Frank-Ter Haar Syndrome
Kyphosis, Prominent coccyx, Anterior concavity of thoracic vertebrae, Kyphoscoliosis OMIM:249420
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Long clavicles, Contracture of the distal interphalangeal joint of the fingers, Cleft vertebral a... ORPHA:83617
Fetal Akinesia Deformation Sequence 1
Hip contracture, Elbow contracture, Camptodactyly of finger, Short neck, Thin ribs, Congenital co... OMIM:208150
Oculocerebrocutaneous Syndrome
Abnormal rib morphology, Missing ribs ORPHA:1647
Arthrogryposis And Ectodermal Dysplasia
Kyphoscoliosis OMIM:601701
Weill-Marchesani Syndrome 1
Lumbar hyperlordosis, Joint stiffness, Spinal canal stenosis, Scoliosis, Broad ribs OMIM:277600
Hyperparathyroidism, Transient Neonatal
Osteopenia, Wide cranial sutures, Recurrent fractures, Undulate ribs, Thin ribs, Short ribs, Narr... OMIM:618188
Osteoglophonic Dysplasia
Osteopenia, Hypoplastic scapulae, Camptodactyly of finger, Craniosynostosis, Short neck, Pectus e... OMIM:166250
Vater/Vacterl Association
Occipital encephalocele, Spina bifida, Abnormal rib morphology, Abnormal sternum morphology, Radi... OMIM:192350
Xylt1-Cdg
Joint dislocation, Joint laxity, Accelerated skeletal maturation, Short clavicles, Broad ribs ORPHA:370930
De Barsy Syndrome
Kyphoscoliosis ORPHA:2962
Stickler Syndrome
Joint dislocation, Protrusio acetabuli, Kyphosis, Osteoarthritis, Bone pain, Spinal canal stenosi... ORPHA:828
Congenital Myopathy 13
Kyphoscoliosis, Scoliosis OMIM:255995
Campomelic Dysplasia
Thoracic scoliosis, Cervical kyphosis, Delayed epiphyseal ossification, Patellar hypoplasia, Pect... OMIM:114290
Loeys-Dietz Syndrome 3
Joint laxity, Protrusio acetabuli, Craniosynostosis, Osteoarthritis, Knee osteoarthritis, Pectus ... OMIM:613795
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
11 pairs of ribs, Hip contracture, Prominent metopic ridge, Long clavicles, Death in infancy, Sho... OMIM:210710
Short-Rib Thoracic Dysplasia 12
Hypoplastic scapulae, Short neck, Short thorax, Anencephaly, Thoracic dysplasia, Short ribs, Narr... OMIM:269860
Stuve-Wiedemann Syndrome 1
Enlarged joints, Ovoid vertebral bodies, Short neck, Osteoporosis, Elbow flexion contracture, Kne... OMIM:601559
Trisomy 1Q
Short thorax, Abnormal rib morphology ORPHA:261344
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Barrel-shaped chest, Pilonidal sinus, Aplasia/Hypoplasia involving the carpal bones, Broad clavic... OMIM:276820
Kyphoscoliotic Ehlers-Danlos Syndrome
Kyphoscoliosis, Congenital kyphoscoliosis, Atlantoaxial instability, Scoliosis ORPHA:536545
Odontochondrodysplasia 2 With Hearing Loss And Diabetes
Osteopenia, Platyspondyly, Large knee, Scoliosis OMIM:619269
Oculocerebrorenal Syndrome Of Lowe
Death in infancy, Osteomalacia, Recurrent fractures, Joint stiffness, Kyphosis, Abnormal rib morp... ORPHA:534
Incontinentia Pigmenti
Hemivertebrae, Kyphoscoliosis OMIM:308300
Heterotaxy, Visceral, 1, X-Linked
Absence of the sacrum, Myelomeningocele, Congenital hip dislocation, Block vertebrae OMIM:306955
Mucopolysaccharidosis Type 3
Abnormal clavicle morphology, Joint stiffness, Avascular necrosis of the capital femoral epiphysi... ORPHA:581
Craniofacial Microsomia 1
Occipital encephalocele, Block vertebrae, Hemivertebrae, Genu valgum, Branchial anomaly, Cervical... OMIM:164210
Neurofibroma
Spinal canal stenosis, Kyphoscoliosis ORPHA:252183
X-Linked Intellectual Disability, Snyder Type
Kyphosis, Kyphoscoliosis ORPHA:3063
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2
Atlantoaxial instability, Kyphoscoliosis OMIM:614557
Simpson-Golabi-Behmel Syndrome, Type 1
Pectus excavatum, Pectus carinatum, Vertebral segmentation defect, Short sternum, Cervical ribs, ... OMIM:312870
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome
Kyphosis, Lumbar hyperlordosis, Kyphoscoliosis ORPHA:457359
Chops Syndrome
Tracheomalacia, Cervical C2/C3 vertebral fusion OMIM:616368
Chromosome 16P13.3 Duplication Syndrome
Sacral dimple, Short neck, Pectus excavatum, Hip dislocation, Cervical C5/C6 vertebrae fusion, Ca... OMIM:613458
Telo2-Related Intellectual Disability-Neurodevelopmental Disorder
Kyphoscoliosis ORPHA:488642
Hallermann-Streiff Syndrome
Spina bifida, Hyperlordosis, Pectus excavatum, Thin ribs, Abnormal rib cage morphology, Decreased... OMIM:234100
Osteopathia Striata With Cranial Sclerosis
Tracheomalacia, Delayed closure of the anterior fontanelle, Pectus excavatum, Craniofacial osteos... OMIM:300373
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Short neck, Lateral clavicle hook, Wide anterior fontanel, Long thorax, Narrow chest, Short ribs,... OMIM:617925
Congenital Fiber-Type Disproportion Myopathy
Kyphoscoliosis, Scoliosis, Hyperlordosis ORPHA:2020
Spondyloepimetaphyseal Dysplasia, Genevieve Type
Joint laxity, Short neck, Advanced ossification of carpal bones, Flat acetabular roof, Irregular ... OMIM:610442
Autosomal Dominant Centronuclear Myopathy
Thin ribs ORPHA:169189
Marshall Syndrome
Platyspondyly, Knee osteoarthritis OMIM:154780
Sponastrime Dysplasia
Joint laxity, Lumbar hyperlordosis, Kyphoscoliosis, Avascular necrosis of the capital femoral epi... ORPHA:93357
Leopard Syndrome 1
Spina bifida occulta, Kyphoscoliosis, Short neck OMIM:151100
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Short neck, Flexion contracture, Hemivertebrae, Narrow chest, Interphalangeal joint contracture o... ORPHA:96334
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Encephalocele, Unicoronal synostosis, Flat acetabular roof, Bell-shaped thorax, Stillbirth, Short... OMIM:616300
Abetalipoproteinemia
Kyphoscoliosis ORPHA:14
Rothmund-Thomson Syndrome, Type 2
Kyphoscoliosis OMIM:268400
Melnick-Needles Syndrome
Anterior concavity of thoracic vertebrae, Kyphoscoliosis OMIM:309350
Weill-Marchesani Syndrome 2
Lumbar hyperlordosis, Joint stiffness, Delayed skeletal maturation, Elbow flexion contracture, Sp... OMIM:608328
Distal Deletion 12Q
Kyphoscoliosis, Short neck ORPHA:96149
Pseudo-Torch Syndrome 2
Thin ribs OMIM:617397
Atypical Werner Syndrome
Sclerosis of hand bone, Increased bone mineral density, Abnormal thorax morphology, Limitation of... ORPHA:79474
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Kyphosis, Kyphoscoliosis, Scoliosis OMIM:300967
Microcephalic Osteodysplastic Primordial Dwarfism, Type Iii
Kyphoscoliosis OMIM:210730
Aspartylglucosaminuria
Joint laxity, Kyphosis, Delayed skeletal maturation, Platyspondyly, Spondylolysis, Scoliosis, Pat... OMIM:208400
Gracile Bone Dysplasia
Thin ribs OMIM:602361
Monosomy 9P
Short neck, Limitation of joint mobility, Abnormal rib morphology, Abnormality of the vertebral c... ORPHA:261112
Lowe Oculocerebrorenal Syndrome
Osteomalacia, Camptodactyly of finger, Wrist swelling, Kyphosis, Rickets, Hip dislocation, Genu v... OMIM:309000
Multiple Endocrine Neoplasia Type 2
Kyphoscoliosis, Hyperlordosis ORPHA:653
Schinzel-Giedion Syndrome
Sacrococcygeal teratoma, Kyphoscoliosis, Scoliosis, Short neck ORPHA:798
Pagod Syndrome
Encephalocele, Abnormal clavicle morphology, Spina bifida, Meningocele, Abnormal rib morphology ORPHA:991
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria
Enlargement of the ankles, Multiple joint contractures, Short neck, Abnormal joint morphology, Sh... ORPHA:99646
Marfan Syndrome
Kyphoscoliosis, Scoliosis, Spondylolisthesis OMIM:154700
Eiken Syndrome
Delayed epiphyseal ossification, Flat acetabular roof, Delayed ossification of carpal bones, Dela... OMIM:600002
Trisomy 18
Camptodactyly of finger, Spina bifida, Delayed skeletal maturation, Abnormal rib morphology, Anen... ORPHA:3380
Fontaine Progeroid Syndrome
Death in infancy, Craniosynostosis, Wide anterior fontanel, Delayed skeletal maturation, Platyspo... OMIM:612289
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Lateral clavicle hook, Thoracic dysplasia, Short ribs, Narrow chest, Horizontal ribs OMIM:208500
Ulbright-Hodes Syndrome
Short neck, Humeroradial synostosis, Abnormal rib morphology, Ovoid thoracolumbar vertebrae, Thin... ORPHA:3404
Dextrocardia
Abnormal rib morphology ORPHA:1666
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Wormian bones, Tracheomalacia, Cervical C2/C3 vertebral fusion, Abnormal vertebral morphology, Hi... ORPHA:444077
Cutis Laxa, Autosomal Recessive, Type Iid
Kyphoscoliosis OMIM:617403
Schinzel-Giedion Midface Retraction Syndrome
Sacrococcygeal teratoma, Long clavicles, Increased density of long bones, Short neck, Metopic sut... OMIM:269150
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies
Hyperlordosis, Hip dislocation, Genu valgum, Broad ribs, Limited elbow extension OMIM:301066
Genitourinary And/Or Brain Malformation Syndrome
Kyphoscoliosis OMIM:618820
Ear-Patella-Short Stature Syndrome
Camptodactyly of finger, Aplastic clavicle, Craniosynostosis, Elbow dislocation, Delayed skeletal... ORPHA:2554
Restrictive Dermopathy
Osteopenia, Thoracic kyphoscoliosis, Aplasia/Hypoplasia of the clavicles, Multiple joint contract... ORPHA:1662
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion
Kyphoscoliosis, Scoliosis, Hyperlordosis ORPHA:363700
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Aplasia of the epiglottis, Short ribs, Narrow chest, Short clavicles, Horizontal ribs OMIM:617088
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Craniosynostosis, Short neck, Pectus excavatum, Delayed skeletal maturation, Hip dislocation, Und... OMIM:609945
Cutis Laxa, Autosomal Recessive, Type Iic
Kyphoscoliosis OMIM:617402
Alagille Syndrome 1
Abnormal rib morphology, Hemivertebrae, Butterfly vertebral arch OMIM:118450
Smith-Lemli-Opitz Syndrome
Short neck, Kyphosis, Abnormal rib morphology, Hip dislocation, Abnormal form of the vertebral bo... ORPHA:818
Elsahy-Waters Syndrome
Pectus excavatum, Cervical C2/C3 vertebral fusion OMIM:211380
Digeorge Syndrome
Pilonidal sinus, Patellar dislocation, Scoliosis, Umbilical hernia, Intervertebral disc degeneration OMIM:188400
Generalized Arterial Calcification Of Infancy
Abnormality of the knee, Osteomalacia, Stippled calcification of the shoulder, Abnormal calcifica... ORPHA:51608
Mucopolysaccharidosis Type 2, Severe Form
Thickened ribs, Camptodactyly of finger, Flexion contracture, Limitation of joint mobility, Spina... ORPHA:217085
Autosomal Recessive Malignant Osteopetrosis
Recurrent fractures, Craniosynostosis, Bone pain, Abnormal rib morphology, Reduced bone mineral d... ORPHA:667
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome
Kyphoscoliosis ORPHA:466791
Wiedemann-Rautenstrauch Syndrome
Irregular sclerotic endplates, Kyphoscoliosis, Hypoplastic vertebral bodies, Cervical vertebral d... ORPHA:3455
Fryns Syndrome
Short neck, Thin ribs, Stillbirth, Camptodactyly, Broad ribs, Joint contracture of the hand, Thor... OMIM:229850
Mucopolysaccharidosis Type 2, Attenuated Form
Thickened ribs, Camptodactyly of finger, Flexion contracture, Limitation of joint mobility, Spina... ORPHA:217093
Floating-Harbor Syndrome
Kyphoscoliosis, Short neck OMIM:136140
Noonan Syndrome 1
Kyphoscoliosis, Short neck OMIM:163950
Hereditary Acrokeratotic Poikiloderma
Joint hyperflexibility, Abnormal rib morphology, Camptodactyly of finger ORPHA:2907
Restrictive Dermopathy 1
Kyphoscoliosis OMIM:275210
Cranioectodermal Dysplasia 2
Joint laxity, Craniosynostosis, Short neck, Pectus excavatum, Short ribs, Narrow chest, Metopic s... OMIM:613610
Floating-Harbor Syndrome
Kyphoscoliosis, Short neck ORPHA:2044
Mandibuloacral Dysplasia Progeroid Syndrome
Osteopenia, Joint stiffness, Pectus excavatum, Flexion contracture, Osteolytic defects of the pha... OMIM:619127
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Camptodactyly of finger, Kyphosis, Delayed skeletal maturation, Platyspondyly, Abnormality of the... ORPHA:2273
Wrinkly Skin Syndrome
Kyphoscoliosis ORPHA:2834
Charge Syndrome
Abnormality of bone mineral density, Abnormal rib morphology, Hemivertebrae, Scoliosis ORPHA:138
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1
Kyphoscoliosis, Short neck OMIM:309580
Coccidioidomycosis
Osteomyelitis, Osteolysis, Arthritis, Abnormality of the vertebral column, Broad ribs ORPHA:228123
Williams-Beuren Syndrome
Kyphoscoliosis OMIM:194050
Osteopetrosis, Autosomal Recessive 7
Multiple rib fractures OMIM:612301
Kindler Epidermolysis Bullosa
Flexion contracture, Abnormal rib morphology, Camptodactyly of finger ORPHA:2908
Charge Syndrome
Down-sloping shoulders, Radial head subluxation, Abnormal rib morphology, Hemivertebrae, Scoliosi... OMIM:214800
Wiedemann-Rautenstrauch Syndrome
Delayed closure of the anterior fontanelle, Short neck, Flexion contracture, Thin ribs, Narrow ch... OMIM:264090
Osteopetrosis With Renal Tubular Acidosis
Pectus excavatum, Osteopetrosis, Prominent floating ribs, Recurrent fractures ORPHA:2785
Townes-Brocks Syndrome
Abnormal rib morphology, Abnormal vertebral morphology ORPHA:857
Microphthalmia, Syndromic 1
Kyphoscoliosis, Lumbar hyperlordosis, Scoliosis OMIM:309800
Pallister-Killian Syndrome
Sacral dimple, Kyphoscoliosis, Short neck OMIM:601803
Ring Chromosome 7 Syndrome
Lumbar kyphoscoliosis ORPHA:1449
Pmm2-Cdg
Platyspondyly, Kyphoscoliosis ORPHA:79318

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 Hes7

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 Hes7.

No publications found that use IMPC mice or data for Hes7.

Order Mouse and ES Cells

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MGI Allele Allele Type Produced
Hes7tm283749(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Hes7tm371730(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Hes7tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Hes7tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells

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