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Gene: Hoxc9 MGI:96199

Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:

homeobox C9

Synonyms:

Hox-3.2

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 Hoxc9 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.

Human diseases associated with Hoxc9 (0 diseases)
Human diseases predicted to be associated with Hoxc9 (638 diseases)

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Hoxc9 by phenotypic similarity.

Disease	Matching phenotypes	Source
Scheuermann Disease	Osteochondrosis, Kyphosis, Morbus Scheuermann	OMIM:181440
Spondylocostal Dysostosis 3, Autosomal Recessive	Slender finger, Hypoplasia of the odontoid process, Contracture of the proximal interphalangeal j...	OMIM:609813
Cervical Rib	Cervical ribs	OMIM:117900
Autosomal Dominant Brachyolmia	Platyspondyly, Increased vertebral height, Kyphoscoliosis, Short thorax, Short stature, Abnormal ...	ORPHA:93304
Parastremmatic Dwarfism	Severe short stature, Genu valgum, Bowing of the long bones, Short neck, Scoliosis, Kyphosis	OMIM:168400
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome	Pectus carinatum, Finger syndactyly, Radioulnar synostosis, Abnormal rib morphology, Short statur...	ORPHA:3268
Neurogenic Thoracic Outlet Syndrome	Abnormal rib morphology	ORPHA:100073
Spondylometaphyseal Dysplasia, Type A4	Sclerotic humeral metaphysis, Broad ischia, Irregular capital femoral epiphysis, Flat acetabular ...	OMIM:609052
Acromesomelic Dysplasia, Maroteaux Type	Disproportionate short stature, Vertebral wedging, Abnormal form of the vertebral bodies, Bowing ...	ORPHA:40
Spondylocostal Dysostosis 2, Autosomal Recessive	Vertebral segmentation defect, Rib fusion, Short neck, Disproportionate short-trunk short stature...	OMIM:608681
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type	Platyspondyly, Enlarged metaphyses, Severe short stature, Lower-limb metaphyseal irregularity, Po...	OMIM:618728
Brachyolmia Type 1, Hobaek Type	Platyspondyly, Pectus carinatum, Sclerotic foci of metaphyses of the elbow, Kyphosis, Short iliac...	OMIM:271530
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type	Platyspondyly, Pectus carinatum, Broad femoral neck, Lumbar hyperlordosis, Thoracic kyphosis, Gen...	OMIM:609223
Spondylometaphyseal Dysplasia, Corner Fracture Type	Pectus carinatum, Hypoplasia of the odontoid process, Short femoral neck, Corner fracture of meta...	OMIM:184255
Heart Defects-Limb Shortening Syndrome	Narrow chest, Disproportionate short stature, Abnormal form of the vertebral bodies, Mesomelic/rh...	ORPHA:1354
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies	Short thumb, Overlapping toe, Camptodactyly, Clinodactyly of the 5th finger, Short stature, Kyphosis	OMIM:618453
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome	Short stature, Abnormal rib morphology	ORPHA:2435
Brachyolmia Type 1, Toledo Type	Abnormal odontoid process morphology, Lumbar hyperlordosis, Squared-off platyspondyly, Precocious...	OMIM:271630
Intellectual Developmental Disorder, X-Linked 82	Scoliosis, Kyphosis	OMIM:300518
Metatropic Dysplasia	Epiphyseal dysplasia, Hypoplasia of the odontoid process, Caudal appendage, Genu valgum, Dispropo...	OMIM:156530
Spondylometaphyseal Dysplasia, A4 Type	Platyspondyly, Severe short stature, Coxa vara, Flared, irregular rib ends, Short palm	ORPHA:168555
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly	Narrow chest, Postaxial foot polydactyly, Acetabular spurs, Horizontal ribs, Short ribs, Brachyda...	OMIM:617405
Spondylocostal Dysostosis 5	Severe short stature, Pectus carinatum, Butterfly vertebrae, Low back pain, Missing ribs, Short n...	OMIM:122600
Spondyloepiphyseal Dysplasia Tarda, Kohn Type	Platyspondyly, Abnormal ilium morphology, Abnormal vertebral morphology, Abnormality of the ankle...	ORPHA:163665
Spondyloepiphyseal Dysplasia Tarda, X-Linked	Platyspondyly, Hip osteoarthritis, Hump-shaped mound of bone in central and posterior portions of...	OMIM:313400
Kyphomelic Dysplasia	Narrow chest, Disproportionate short stature, Abnormal form of the vertebral bodies, Undulate rib...	ORPHA:1801
Spondylocostal Dysostosis 1, Autosomal Recessive	Severe short stature, Block vertebrae, Abnormal odontoid process morphology, Vertebral segmentati...	OMIM:277300
Thoracolaryngopelvic Dysplasia	Hypoplastic iliac wing, Hypoplastic pelvis, Bell-shaped thorax, Horizontal ribs, Short ribs, Meta...	OMIM:187760
Mesomelic Dysplasia, Kantaputra Type	Ulnar deviation of finger, Abnormality of the ankle, Synostosis of carpal bones, Camptodactyly of...	ORPHA:1836
Sprengel Deformity	Rib segmentation abnormalities, Sprengel anomaly, Hemivertebrae, Spina bifida occulta, Cervical s...	OMIM:184400
Spondyloepiphyseal Dysplasia, Stanescu Type	Platyspondyly, Hypoplastic ilia, Vertebral wedging, Internal tibial torsion, Kyphoscoliosis, Beak...	OMIM:616583
Osteogenesis Imperfecta, Type Ix	Platyspondyly, Pectus carinatum, Disproportionate short-limb short stature, Multiple rib fracture...	OMIM:259440
Hip Dysplasia, Beukes Type	Broad femoral neck, Abnormal epiphysis morphology, Abnormality of the epiphysis of the femoral he...	ORPHA:2114
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness	Platyspondyly, Disproportionate short stature, Hypoplastic iliac wing, Lumbar hyperlordosis, Enla...	OMIM:609616
Metatropic Dysplasia	Severe short stature, Narrow chest, Hypoplastic cervical vertebrae, Abnormal form of the vertebra...	ORPHA:2635
Spondylometaphyseal Dysplasia, Axial	Platyspondyly, Narrow chest, Rhizomelia, Thoracic hypoplasia, Proximal femoral metaphyseal irregu...	OMIM:602271
Autosomal Dominant Spondylocostal Dysostosis	Severe short stature, Short thorax, Intrauterine growth retardation, Vertebral segmentation defec...	ORPHA:1797
Endosteal Hyperostosis, Worth Type	Sclerotic vertebral body, Abnormal form of the vertebral bodies, Clavicular sclerosis, Diaphyseal...	ORPHA:2790
Smith-Mccort Dysplasia 1	Hypoplastic scapulae, Hypoplasia of the odontoid process, Genu valgum, Barrel-shaped chest, Multi...	OMIM:607326
Spondyloepimetaphyseal Dysplasia, Irapa Type	Platyspondyly, Pectus carinatum, Broad femoral neck, Hypoplastic sacrum, Upper limb undergrowth, ...	OMIM:271650
Metaphyseal Chondrodysplasia, Schmid Type	Abnormal vertebral morphology, Radial metaphyseal irregularity, Anterior rib cupping, Genu varum,...	ORPHA:174
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type	Platyspondyly, Disproportionate short-limb short stature, Metaphyseal spurs, Posterior rib cuppin...	OMIM:608728
Winchester Syndrome	Carpal osteolysis, Osteolysis involving tarsal bones, Arthropathy, Broad metacarpals, Kyphosis	OMIM:277950
Myotonia With Skeletal Abnormalities And Impaired Intellectual Development	Pectus carinatum, Vertebral wedging, Irregular femoral epiphysis, Genu valgum, Bell-shaped thorax...	OMIM:255710
Hypogonadism, Male, With Impaired Intellectual Development And Skeletal Anomalies	Abnormality of the cervical spine, Superior rib anomalies	OMIM:307500
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia	Long hallux, Hypoplastic iliac wing, Genu valgum, Delayed pubic bone ossification, Short neck, Di...	OMIM:613330
Spondylometaphyseal Dysplasia, Kozlowski Type	Delayed epiphyseal ossification, Abnormal ilium morphology, Hypoplasia of the odontoid process, R...	ORPHA:93314
Spondylometaphyseal Dysplasia, Kozlowski Type	Hypoplasia of the odontoid process, Carpal bone hypoplasia, Short neck, Disproportionate short-tr...	OMIM:184252
Osteomesopyknosis	Sclerotic vertebral body, Scoliosis, Abnormal form of the vertebral bodies, Kyphosis	ORPHA:2777
Spondylometaphyseal Dysplasia, X-Linked	Platyspondyly, Pectus carinatum, Severe short stature, Short finger, Hip contracture, Knee flexio...	OMIM:313420
Brachyolmia Type 3	Platyspondyly, Radial deviation of finger, Clinodactyly, Short femoral neck, Proximal femoral met...	OMIM:113500
Aphalangia, Partial, With Syndactyly And Duplication Of Metatarsal Iv	Cutaneous finger syndactyly, Duplication of metatarsal bones, Kyphoscoliosis, Aplasia/Hypoplasia ...	OMIM:600384
Thoracomelic Dysplasia	Bell-shaped thorax, Disproportionate short-limb short stature, Short ribs	OMIM:273740
Spondyloepiphyseal Dysplasia, Kondo-Fu Type	Pectus carinatum, Brachydactyly, Short stature, Short femoral neck, Kyphosis, Delayed ossificatio...	OMIM:618392
Diastrophic Dysplasia	Ulnar deviation of finger, Cervical kyphosis, Hypoplastic cervical vertebrae, Patellar dislocatio...	OMIM:222600
Axial Spondylometaphyseal Dysplasia	Abnormal ilium morphology, Hypoplastic iliac wing, Abnormal metacarpal morphology, Disproportiona...	ORPHA:168549
Intellectual Developmental Disorder With Muscle Tone Abnormalities And Distal Skeletal Defects	Short stature, Pectus carinatum, Kyphosis, Hip dysplasia	OMIM:620007
Spondyloepimetaphyseal Dysplasia, Strudwick Type	Platyspondyly, Pectus carinatum, Metaphyseal irregularity, Hypoplasia of the odontoid process, Di...	OMIM:184250
Pseudoachondroplasia	Delayed epiphyseal ossification, Atlantoaxial dislocation, Hypoplasia of the odontoid process, Ra...	OMIM:177170
Weismann-Netter Syndrome	Severe short stature, Fibular bowing, Lateral femoral bowing, Horizontal sacrum, Squared iliac bo...	OMIM:112350
Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant	Platyspondyly, Pectus carinatum, Hypoplasia of the odontoid process, Lumbar hyperlordosis, Avascu...	OMIM:184100
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3	Platyspondyly, Thin ribs, Metaphyseal irregularity, Multiple joint dislocation, Short femoral nec...	OMIM:618395
Dysspondyloenchondromatosis	Platyspondyly, Anisospondyly, Joint dislocation, Abnormal ulnar metaphysis morphology, Genu valgu...	ORPHA:85198
Bethlem Myopathy 2	Hip dislocation, Scoliosis, Kyphosis, Scapular winging	OMIM:616471
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers	Pectus carinatum, Short stature, Pectus excavatum, Scoliosis, Kyphosis, Tapered finger	ORPHA:276630
Spondyloepimetaphyseal Dysplasia, Irapa Type	Platyspondyly, Pectus carinatum, Synostosis of carpal bones, Abnormal epiphysis morphology, Dispr...	ORPHA:93351
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type	Small hand, Hip dislocation, Short stature, Short foot, Scoliosis, Kyphosis	OMIM:300434
Horizontal Gaze Palsy With Progressive Scoliosis	Short neck, Scoliosis, Kyphosis	ORPHA:2744
Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes	Platyspondyly, Bowing of the legs, Lower limb undergrowth, Kyphoscoliosis, Lumbar scoliosis, Brac...	OMIM:612847
X-Linked Intellectual Disability, Stocco Dos Santos Type	Short stature, Congenital bilateral hip dislocation, Kyphosis	ORPHA:85288
Thin Ribs-Tubular Bones-Dysmorphism Syndrome	Intrauterine growth retardation, Abnormal pelvic girdle bone morphology, Slender long bone, Abnor...	ORPHA:1506
Weismann-Netter Syndrome	Severe short stature, Aplasia/Hypoplasia of the radius, Abnormal form of the vertebral bodies, Ab...	ORPHA:3344
Dyggve-Melchior-Clausen Disease	Hypoplastic scapulae, Hypoplasia of the odontoid process, Hypoplastic iliac wing, Postnatal growt...	OMIM:223800
Bruck Syndrome 1	Platyspondyly, Ankle flexion contracture, Pectus carinatum, Vertebral wedging, Pterygium, Elbow f...	OMIM:259450
Fibrochondrogenesis 2	Platyspondyly, Hypoplastic ilia, Metaphyseal cupping, Thoracic hypoplasia, Bell-shaped thorax, Sh...	OMIM:614524
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2	Genu valgum, Carpal bone hypoplasia, Wind-swept deformity of the knees, Radial head subluxation, ...	OMIM:603546
Becker Nevus Syndrome	Pectus excavatum, Scoliosis, Hemivertebrae, Cervical ribs	OMIM:604919
Craniodiaphyseal Dysplasia	Short stature, Diaphyseal undertubulation, Abnormal rib morphology	ORPHA:1513
Jeune Syndrome	Abnormal pelvic girdle bone morphology, Toe syndactyly, Postaxial foot polydactyly, Cone-shaped e...	ORPHA:474
Spastic Paraplegia 18B, Autosomal Recessive	Scoliosis, Kyphosis, Ankle clonus	OMIM:611225
Spondyloepimetaphyseal Dysplasia, Missouri Type	Pear-shaped vertebrae, Platyspondyly, Metaphyseal cupping, Rhizomelia, Radial bowing, Flared meta...	OMIM:602111
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome	Short distal phalanx of finger, Hypoplastic iliac wing, Brachydactyly, Hip dysplasia, Short statu...	ORPHA:1858
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2	Short stature, Short neck, Abnormal rib morphology, Vertebral segmentation defect	ORPHA:2578
Thoracomelic Dysplasia	Abnormal pelvic girdle bone morphology, Narrow chest, Disproportionate short-limb short stature, ...	ORPHA:1803
Microcephaly-Cervical Spine Fusion Anomalies Syndrome	Abnormal clavicle morphology, Abnormal hip bone morphology, Short neck, Hyperlordosis, Abnormal r...	ORPHA:2522
Dyggve-Melchior-Clausen Disease	Epiphyseal dysplasia, Hypoplasia of the odontoid process, Genu valgum, Short neck, Beaking of ver...	ORPHA:239
Juberg-Hayward Syndrome	Abnormal vertebral morphology, Severe short stature, Toe syndactyly, Short thumb, Abnormality of ...	ORPHA:2319
Spondylometaphyseal Dysplasia, Algerian Type	Platyspondyly, Severe short stature, Hypoplasia of proximal radius, Short tubular bones of the ha...	OMIM:184253
Osteogenesis Imperfecta, Type Xv	Platyspondyly, Short stature, Scoliosis, Thin ribs	OMIM:615220
Acropectorovertebral Dysplasia	Abnormal vertebral morphology, Toe syndactyly, Spina bifida occulta at L5, Synostosis of carpal b...	OMIM:102510
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type	Epiphyseal dysplasia, Delayed epiphyseal ossification, Premature osteoarthritis, Genu valgum, Abn...	ORPHA:93360
Isolated Klippel-Feil Syndrome	Abnormality of the vertebral column, Abnormal shoulder morphology, Cervical C2/C3 vertebral fusio...	ORPHA:2345
Diastrophic Dysplasia	Ulnar deviation of finger, Neonatal short-limb short stature, Hypoplastic cervical vertebrae, Abn...	ORPHA:628
Fibrosis Of Extraocular Muscles, Congenital, 3C	Pectus excavatum, Kyphosis	OMIM:609384
Poland Syndrome	Short ribs, Rib fusion, Unilateral oligodactyly, Sprengel anomaly, Hemivertebrae, Unilateral brac...	OMIM:173800
Ruvalcaba Syndrome	Small hand, Narrow chest, Limited elbow extension, Short phalanx of finger, Short metacarpal, Del...	OMIM:180870
Becker Nevus Syndrome	Pectus carinatum, Abnormal tibia morphology, Rib fusion, Supernumerary ribs, Pectus excavatum, Sp...	ORPHA:64755
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 8	Elbow flexion contracture, Hip contracture, Knee flexion contracture, Hyperlordosis, Scoliosis, K...	OMIM:600175
Diaphanospondylodysostosis	Enlarged thorax, Absent or minimally ossified vertebral bodies, Missing ribs, Short neck, Short t...	ORPHA:66637
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome	Abnormal form of the vertebral bodies, Abnormality of the humeroulnar joint, Short neck, Hemivert...	ORPHA:2234
Thoracic Dysostosis, Isolated	Pectus excavatum, Bell-shaped thorax, Short ribs	OMIM:187750
Borjeson-Forssman-Lehmann Syndrome	Shortening of all middle phalanges of the fingers, Short toe, Cervical spinal canal stenosis, Wid...	OMIM:301900
Fetal Akinesia Deformation Sequence 4	11 pairs of ribs, Short neck, Camptodactyly, Rocker bottom foot, Kyphosis	OMIM:618393
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly	Narrow chest, Thoracic dysplasia, Bell-shaped thorax, Horizontal ribs, Postaxial polydactyly, Bra...	OMIM:615633
Thoracopelvic Dysostosis	Short stature, Short ribs	OMIM:187770
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome	Arachnodactyly, Pectus carinatum, Scoliosis, Kyphosis	ORPHA:1548
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	Platyspondyly, Thin ribs, Metaphyseal cupping of metacarpals, Metaphyseal cupping, Rhizomelia, Hy...	OMIM:300863
Masa Syndrome	Short stature, Adducted thumb, Kyphosis, Hyperlordosis	OMIM:303350
Spondyloperipheral Dysplasia	Broad thumb, Absent styloid process of ulna, Barrel-shaped chest, Short neck, Flat acetabular roo...	OMIM:271700
Rhizomelic Syndrome, Urbach Type	Short distal phalanx of finger, Rhizomelia, Kyphosis, Abnormal form of the vertebral bodies, Abno...	ORPHA:3098
Holt-Oram Syndrome	Broad thumb, Aplasia/Hypoplasia of the radius, Finger syndactyly, Absent thumb, Abnormal clavicle...	ORPHA:392
Spondyloepiphyseal Dysplasia, Maroteaux Type	Platyspondyly, Pectus carinatum, Atlantoaxial instability, Genu valgum, Kyphoscoliosis, Short nec...	OMIM:184095
Chst3-Related Skeletal Dysplasia	Rhizomelia, Abnormal form of the vertebral bodies, Irregular epiphyses, Small epiphyses, Genu val...	ORPHA:263463
Spondyloepiphyseal Dysplasia Tarda	Enlarged metaphyses, Hypoplasia of the odontoid process, Finger swelling, Premature osteoarthriti...	ORPHA:93284
3M Syndrome	Thin ribs, Short neck, Hypoplastic ischia, Abnormality of the elbow, Increased vertebral height, ...	ORPHA:2616
Thanatophoric Dysplasia, Type Ii	Platyspondyly, Hypoplastic ilia, Small abnormally formed scapulae, Narrow chest, Flared metaphysi...	OMIM:187601
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome	Platyspondyly, Narrow chest, Rhizomelia, Abnormal epiphysis morphology, Abnormal clavicle morphol...	ORPHA:93267
Mucopolysaccharidosis, Type Iva	Constricted iliac wing, Hypoplasia of the odontoid process, Genu valgum, Short neck, Disproportio...	OMIM:253000
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1	Joint subluxation, Contracture of the proximal interphalangeal joint of the 2nd finger, Congenita...	OMIM:130060
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe	Bifid sternum, Supraumbilical raphe	OMIM:140850
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis	Disproportionate short stature, Thoracic hypoplasia, Short femoral neck, Knee dislocation, Short ...	OMIM:618363
Lethal Congenital Contracture Syndrome Type 1	Slender long bone, Abnormal form of the vertebral bodies, Abnormal hip bone morphology, Short nec...	ORPHA:1486
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant	Hip contracture, Knee flexion contracture, Hyperlordosis, Scapular winging, Hip dysplasia, Pectus...	OMIM:615290
Progressive Pseudorheumatoid Dysplasia	Platyspondyly, Joint contracture of the hand, Camptodactyly of finger, Sclerotic vertebral endpla...	OMIM:208230
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures	Kyphosis, Lumbar hyperlordosis, Short stature, Scoliosis, Hip dislocation	OMIM:616756
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness	Genu valgum, Carpal bone hypoplasia, Broad phalanx, Metaphyseal dysplasia, Short foot, Genu varum...	OMIM:250420
Desbuquois Dysplasia 1	Radial deviation of the 2nd finger, Broad first metatarsal, Short neck, Flattened epiphysis, Adva...	OMIM:251450
Three M Syndrome 1	Short 5th finger, Joint dislocation, Slender long bone, Growth delay, Postnatal growth retardatio...	OMIM:273750
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type	Thin ribs, Radial bowing, Short neck, Flat acetabular roof, Hypoplastic ischia, Ovoid vertebral b...	OMIM:151210
Schneckenbecken Dysplasia	Platyspondyly, Hypoplastic scapulae, Narrow chest, Disproportionate short-limb short stature, Tho...	OMIM:269250
Ophthalmoplegia, External, With Rib And Vertebral Anomalies	Pectus carinatum, Short ribs, Missing ribs, Pseudoarthrosis, Pectus excavatum, Scoliosis	OMIM:618155
Feingold Syndrome 2	Short thumb, 3-4 toe syndactyly, Postnatal growth retardation, Short middle phalanx of the 2nd fi...	OMIM:614326
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly	Radial bowing, Genu valgum, Thoracolumbar scoliosis, Metaphyseal dysplasia, Ovoid vertebral bodie...	OMIM:618019
Femoral-Facial Syndrome	Aplasia/Hypoplasia of the tibia, Abnormal pelvic girdle bone morphology, Abnormal rib morphology,...	ORPHA:1988
Spondylometaphyseal Dysplasia, Schmidt Type	Abnormal ilium morphology, Genu valgum, Disproportionate short-trunk short stature, Metaphyseal d...	ORPHA:93316
Mucopolysaccharidosis Type 4	Platyspondyly, Pectus carinatum, Abnormal epiphysis morphology, Joint dislocation, Short thorax, ...	ORPHA:582
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset	Short neck, Hyperlordosis, Scoliosis, Kyphosis, Spinal rigidity	OMIM:300718
Cole-Carpenter Syndrome	Abnormal form of the vertebral bodies, Intrauterine growth retardation, Abnormal metaphysis morph...	ORPHA:2050
Autosomal Recessive Spondylocostal Dysostosis	Abnormal form of the vertebral bodies, Finger syndactyly, Camptodactyly of finger, Short thorax, ...	ORPHA:2311
Gm1-Gangliosidosis, Type Iii	Platyspondyly, Hypoplastic acetabulae, Flared iliac wing, Short stature, Anterior beaking of lumb...	OMIM:230650
Spondylocostal Dysostosis 4, Autosomal Recessive	Block vertebrae, Abnormal odontoid process morphology, Bell-shaped thorax, Vertebral segmentation...	OMIM:613686
Acrocapitofemoral Dysplasia	Short tibia, Radial bowing, Hypoplastic iliac wing, Dysplasia of the femoral head, Cone-shaped ep...	OMIM:607778
Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability	Hyperlordosis, Short stature, Scoliosis, Kyphosis, Spinal rigidity	OMIM:617404
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome	Aplasia/Hypoplasia of fingers, Pectus carinatum, Toe syndactyly, Abnormal epiphysis morphology, A...	ORPHA:3082
Achondroplasia	Thoracolumbar kyphosis, Hip joint hypermobility, Disproportionate short stature, Rhizomelia, Thor...	ORPHA:15
Cdkl5-Deficiency Disorder	Broad proximal phalanges of the hand, Growth delay, Hallux valgus, Scoliosis, Kyphosis	ORPHA:505652
Grant Syndrome	Abnormality of the glenoid fossa, Abnormal pelvic girdle bone morphology, Narrow chest, Joint dis...	ORPHA:2097
Mucolipidosis Iii Gamma	Pectus carinatum, Genu valgum, Claw hand deformity, Flared iliac wing, Short neck, Flat capital f...	OMIM:252605
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita	Clinodactyly, Bell-shaped thorax, Short neck, Scoliosis, Kyphosis	ORPHA:178148
Hall-Riggs Syndrome	Platyspondyly, Intrauterine growth retardation, Brachydactyly, Metaphyseal dysplasia, Scoliosis, ...	OMIM:234250
Bruck Syndrome	Platyspondyly, Pterygium, Bowing of the long bones, Wormian bones, Short stature, Scoliosis, Kyph...	ORPHA:2771
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies	Pectus excavatum, Hypoplastic distal segments of scapulae, Abnormal rib morphology	OMIM:602196
Spondyloepimetaphyseal Dysplasia, Shohat Type	Platyspondyly, Delayed epiphyseal ossification, Metaphyseal irregularity, Fibular overgrowth, Dis...	OMIM:602557
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis	Thoracolumbar kyphosis, Kyphoscoliosis	OMIM:236660
Spondyloepiphyseal Dysplasia Congenita	Dysplasia of the femoral head, Genu valgum, Barrel-shaped chest, Limited elbow movement, Short ne...	ORPHA:94068
Osteogenesis Imperfecta, Type Iii	Thin ribs, Neonatal short-limb short stature, Disproportionate short-limb short stature, Slender ...	OMIM:259420
Hydrocephaly-Tall Stature-Joint Laxity Syndrome	Arachnodactyly, Adducted thumb, Shoulder dislocation, Scoliosis, Kyphosis	ORPHA:2181
Microcephalic Primordial Dwarfism, Toriello Type	Severe short stature, Abnormal epiphysis morphology, Intrauterine growth retardation, Brachydacty...	ORPHA:2643
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome	Radial bowing, Intrauterine growth retardation, Tibial bowing, Lower limb undergrowth, Bowing of ...	ORPHA:3035
Cole-Carpenter Syndrome 2	Platyspondyly, Thin ribs, Lambdoidal craniosynostosis, Coronal craniosynostosis, Postnatal growth...	OMIM:616294
Achondrogenesis Type 1B	Severe short stature, Narrow chest, Disproportionate short stature, Abnormal rib morphology, Shor...	ORPHA:93298
Zimmermann-Laband Syndrome 3	Short distal phalanx of finger, Aplasia of the distal phalanx of the 5th toe, Kyphosis, Clinodact...	OMIM:618658
Osteogenesis Imperfecta, Type Ii	Platyspondyly, Thin ribs, Abnormal pelvic girdle bone morphology, Disproportionate short-limb sho...	OMIM:166210
Cat-Eye Syndrome	Short stature, Intrauterine growth retardation, Hip dysplasia, Abnormal rib morphology	ORPHA:195
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy	Thin ribs, Hypoplasia of the odontoid process, Short neck, Anterior rib cupping, Flattened epiphy...	OMIM:300232
Ruvalcaba Syndrome	Pectus carinatum, Small hand, Cone-shaped epiphysis, Synostosis of carpal bones, Narrow chest, Ab...	ORPHA:3121
Mucopolysaccharidosis, Type X	Platyspondyly, Broad clavicles, Irregular acetabular roof, Broad ribs, Genu valgum, Spatulate rib...	OMIM:619698
Spondyloepiphyseal Dysplasia Congenita	Platyspondyly, Pectus carinatum, Hip dislocation, Hypoplasia of the odontoid process, Atlantoaxia...	OMIM:183900
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B	Scoliosis, Kyphosis	OMIM:617087
Melnick-Needles Syndrome	Anisospondyly, Hip dislocation, Short distal phalanx of finger, Narrow chest, Short thorax, Delay...	ORPHA:2484
Klippel-Feil Syndrome 1, Autosomal Dominant	Cervical C2/C3 vertebral fusion, Short neck, Sprengel anomaly, Abnormal limb bone morphology, Abn...	OMIM:118100
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	Delayed epiphyseal ossification, Metaphyseal cupping, Narrow chest, Dysplastic sacrum, Wide dista...	OMIM:613320
Intellectual Disability-Developmental Delay-Contractures Syndrome	Clinodactyly of the 5th finger, Scoliosis, Kyphosis	ORPHA:3454
Fibrochondrogenesis	Hypoplastic scapulae, Narrow chest, Abnormal form of the vertebral bodies, Abnormal diaphysis mor...	ORPHA:2021
Developmental Malformations-Deafness-Dystonia Syndrome	Hypoplastic scapulae, Femoral retroversion, Short stature, Scoliosis, Kyphosis	ORPHA:79107
Autosomal Recessive Kenny-Caffey Syndrome	Thin ribs, Small hand, Growth delay, Delayed cranial suture closure, Postnatal growth retardation...	ORPHA:93324
Thanatophoric Dysplasia, Type I	Platyspondyly, Small abnormally formed scapulae, Hypoplastic ilia, Narrow chest, Disproportionate...	OMIM:187600
Myasthenic Syndrome, Congenital, 25, Presynaptic	Scoliosis, Kyphosis, Spinal rigidity	OMIM:618323
Garg-Mishra Progeroid Syndrome	Platyspondyly, Thin ribs, Narrow chest, Slender long bone, Persistent open anterior fontanelle, S...	OMIM:620601
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Platyspondyly, Thin ribs, Metaphyseal cupping of metacarpals, Rhizomelia, Abnormality of the calc...	ORPHA:163966
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome	Platyspondyly, Short stature, Kyphosis	ORPHA:2786
Acro-Renal-Mandibular Syndrome	Thin ribs, Pectus carinatum, Hypoplastic scapulae, Hip dislocation, Abnormal clavicle morphology,...	ORPHA:958
Richieri Costa-Da Silva Syndrome	Pectus carinatum, Vertebral wedging, Decreased anterioposterior diameter of lumbar vertebral bodi...	ORPHA:3101
Anauxetic Dysplasia 1	Atlantoaxial dislocation, Hip contracture, Barrel-shaped chest, Short neck, Short foot, Hypoplast...	OMIM:607095
Spondyloepimetaphyseal Dysplasia, X-Linked	Hypoplasia of the odontoid process, Broad long bones, Disproportionate short-trunk short stature,...	OMIM:300106
Ullrich Congenital Muscular Dystrophy	Slender finger, Kyphosis, Elbow flexion contracture, Increased laxity of fingers, Knee flexion co...	ORPHA:75840
Three M Syndrome 2	Thin ribs, Short 5th finger, Pectus carinatum, Severe short stature, Clinodactyly, Slender long b...	OMIM:612921
Phaver Syndrome	Ulnar deviation of finger, Broad thumb, Abnormal form of the vertebral bodies, Short thumb, Campt...	ORPHA:2876
Fibrochondrogenesis 1	Thin ribs, Hypoplastic scapulae, Small hand, Joint contracture of the hand, Broad long bones, Sho...	OMIM:228520
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies	Short stature, Sprengel anomaly, Abnormality of the vertebral column, Abnormal rib morphology	OMIM:601076
Desbuquois Dysplasia 2	Epiphyseal dysplasia, Broad thumb, Postnatal growth retardation, Short neck, Radial head subluxat...	OMIM:615777
Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome	Pectus excavatum, Kyphosis, Cervical ribs	ORPHA:77300
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome	Abnormal form of the vertebral bodies, Sandal gap, Sprengel anomaly, Brachydactyly, Hemivertebrae...	ORPHA:2180
Mosaic Trisomy 14	Narrow chest, Short neck, Abnormal rib morphology, Camptodactyly of finger	ORPHA:1703
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech	Delayed epiphyseal ossification, Hypoplastic iliac wing, Postnatal growth retardation, Carpal bon...	OMIM:611717
White Forelock With Malformations	Finger syndactyly, Clinodactyly of the 5th finger, Sprengel anomaly, Abnormal rib morphology, Spi...	ORPHA:2475
Thoracic Outlet Syndrome	Abnormal rib morphology	ORPHA:97330
Mucopolysaccharidosis, Type Ivb	Platyspondyly, Constricted iliac wing, Hypoplasia of the odontoid process, Hypoplasia of the capi...	OMIM:253010
Ectodermal Dysplasia-Sensorineural Deafness Syndrome	Camptodactyly of finger, Joint contracture of the 5th finger, Arachnodactyly, Short stature, Scol...	ORPHA:1883
Achondrogenesis, Type Ii	Disproportionate short-limb short stature, Broad long bones, Short tubular bones of the hand, Hyp...	OMIM:200610
Thanatophoric Dysplasia	Platyspondyly, Abnormal ilium morphology, Narrow chest, Disproportionate short-limb short stature...	ORPHA:2655
Lethal Kniest-Like Dysplasia	Platyspondyly, Hypoplastic ilia, Narrow chest, Flared metaphysis, Broad long bones, Mesomelic/rhi...	ORPHA:2347
Cooper-Jabs Syndrome	Camptodactyly of finger, Abnormal hip bone morphology, Missing ribs, Abnormal rib morphology, Sho...	ORPHA:1488
Orofaciodigital Syndrome Iii	Postaxial foot polydactyly, Short sternum, Postaxial hand polydactyly, Pectus excavatum, Kyphosis	OMIM:258850
Myopathic Ehlers-Danlos Syndrome	Ankle flexion contracture, Joint contracture of the hand, Shoulder flexion contracture, Elbow fle...	ORPHA:536516
Congenital Pseudoarthrosis Of The Clavicle	Congenital pseudoarthrosis of the clavicle, Osteoarthritis, Cervical ribs	ORPHA:66630
Mucolipidosis Iii Alpha/Beta	Shallow acetabular fossae, Broad ribs, Irregular carpal bones, Spondylolisthesis, Short ribs, Car...	OMIM:252600
Hypomelanosis Of Ito	Clinodactyly, Radial deviation of finger, Hand polydactyly, Scoliosis, Kyphosis, Syndactyly	OMIM:300337
Hypophosphatasia	Narrow chest, Bowing of the long bones, Abnormal rib morphology, Short stature, Craniosynostosis,...	ORPHA:436
Laryngotracheoesophageal Cleft Type 4	Abnormal form of the vertebral bodies, Abnormal rib morphology	ORPHA:93941
Mucopolysaccharidosis Type 6	Epiphyseal dysplasia, Broad ribs, Genu valgum, Short neck, Disproportionate short-trunk short sta...	ORPHA:583
Myofibrillar Myopathy 10	Ankle flexion contracture, Sandal gap, Elbow flexion contracture, Knee flexion contracture, Flexi...	OMIM:619040
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development	Short stature, Split hand, Scoliosis, Kyphosis	OMIM:618124
Autosomal Recessive Spastic Paraplegia Type 53	Pectus carinatum, Kyphosis	ORPHA:319199
Achondrogenesis Type 1A	Severe short stature, Narrow chest, Multiple rib fractures, Short neck, Short thorax, Short foot,...	ORPHA:93299
X-Linked Charcot-Marie-Tooth Disease Type 1	Scoliosis, Kyphosis	ORPHA:101075
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies	Congenital hip dislocation, Pectus carinatum, Dislocation of the femoral head, Delayed closure of...	OMIM:619797
Kleefstra Syndrome 2	Scoliosis, Kyphosis, Growth delay	OMIM:617768
Intellectual Developmental Disorder, X-Linked, Syndromic 14	Pectus carinatum, Narrow chest, Pectus excavatum, Scoliosis, Kyphosis	OMIM:300676
Osteogenesis Imperfecta, Type Xvi	Platyspondyly, Narrow chest, Rhizomelia, Bowing of the long bones, Multiple rib fractures, Wormia...	OMIM:616229
Osteogenesis Imperfecta, Type Viii	Platyspondyly, Thin ribs, Disproportionate short-limb short stature, Radial bowing, Slender long ...	OMIM:610915
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome	Patellar dislocation, Abnormal form of the vertebral bodies, Elbow dislocation, Clinodactyly of t...	ORPHA:2916
Acromesomelic Dysplasia 4	Radial bowing, Prominent deltoid tuberosities, Genu valgum, Beaking of vertebral bodies, Broad to...	OMIM:619636
Septopreoptic Holoprosencephaly	Abnormal vertebral morphology, Abnormal rib morphology	ORPHA:280195
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Ivory epiphyses, Bowing of the long bones, Short metacarpal, Ovoid vertebral bodies, Hypoplastic ...	ORPHA:85167
O'Donnell-Luria-Rodan Syndrome	Kyphosis, Tapered finger	OMIM:618512
Urban-Rogers-Meyer Syndrome	Toe syndactyly, Abnormal epiphysis morphology, Abnormal diaphysis morphology, Camptodactyly of fi...	ORPHA:3409
10Q22.3Q23.3 Microduplication Syndrome	Abnormal clavicle morphology, Abnormal rib morphology	ORPHA:276422
Arthrogryposis, Distal, Type 5	Clinodactyly, Arachnodactyly, Limited wrist extension, Recurrent patellar dislocation, Congenital...	OMIM:108145
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome	Intrauterine growth retardation, Abnormality of the cervical spine, Finger joint contracture, Sho...	ORPHA:48431
Joint Laxity, Short Stature, And Myopia	Pectus carinatum, Multiple joint dislocation, Cervical kyphosis, Kyphoscoliosis, Short stature	OMIM:617662
Imperforate Oropharynx-Costovertebral Anomalies Syndrome	Abnormal form of the vertebral bodies, Arachnodactyly, Missing ribs, Hemivertebrae, Abnormal rib ...	ORPHA:2759
Acromesomelic Dysplasia 1	Radial bowing, Long hallux, Beaking of vertebral bodies, Broad phalanx, Cone-shaped epiphyses of ...	OMIM:602875
Brachytelephalangic Chondrodysplasia Punctata	Hypoplastic cervical vertebrae, Abnormality of the costochondral junction, Postnatal growth retar...	ORPHA:79345
Kenny-Caffey Syndrome, Type 1	Thin ribs, Small hand, Slender long bone, Intrauterine growth retardation, Proportionate short st...	OMIM:244460
Dysosteosclerosis	Platyspondyly, Short diaphyses, Narrow chest, Disproportionate short stature, Broad femoral neck,...	OMIM:224300
Czech Dysplasia	Platyspondyly, Short toe, Short femoral neck, Thoracic kyphosis, Intervertebral space narrowing, ...	OMIM:609162
Spondylometaphyseal Dysplasia, Sedaghatian Type	Platyspondyly, Narrow chest, Cone-shaped epiphysis, Disproportionate short stature, Abnormal scap...	ORPHA:93317
X-Linked Charcot-Marie-Tooth Disease Type 4	Scoliosis, Kyphosis	ORPHA:101078
Mitochondrial Myopathy And Sideroblastic Anemia	Delayed puberty, Scoliosis, Kyphosis	ORPHA:2598
Congenital Arthrogryposis With Anterior Horn Cell Disease	Short neck, Hip dysplasia, Rocker bottom foot, Scoliosis, Kyphosis	OMIM:611890
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy	Postnatal growth retardation, Hypoplastic inferior ilia, Short metacarpal, Ovoid vertebral bodies...	OMIM:608940
Achondrogenesis, Type Ia	Unossified vertebral bodies, Hypoplastic scapulae, Broad clavicles, Narrow chest, Hypoplastic sac...	OMIM:200600
Arthrogryposis, Distal, Type 3	Congenital hip dislocation, Camptodactyly of finger, Lumbar hyperlordosis, Overlapping toe, Cutan...	OMIM:114300
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome	Severe short stature, Hip dislocation, Synostosis of carpal bones, Finger syndactyly, Moderate po...	ORPHA:1005
Craniosynostosis, Herrmann-Opitz Type	Finger syndactyly, Intrauterine growth retardation, Brachydactyly, Split hand, Abnormal rib morph...	ORPHA:2145
Saul-Wilson Syndrome	Platyspondyly, Short distal phalanx of finger, Pseudoepiphyses of the metacarpals, Hypoplasia of ...	OMIM:618150
Bent Bone Dysplasia Syndrome 2	Platyspondyly, Thin ribs, Hypoplastic acetabulae, Short 1st metacarpal, Short tibia, Hypoplastic ...	OMIM:620076
Spondylometaphyseal Dysplasia, Sedaghatian Type	Delayed epiphyseal ossification, Widened greater sciatic notch, Short neck, Horizontal inferior b...	OMIM:250220
Intellectual Developmental Disorder, Autosomal Dominant 23	Broad distal phalanx of finger, Sandal gap, Postaxial polydactyly, Hyperlordosis, Scoliosis, Kyph...	OMIM:615761
Spastic Paraplegia 53, Autosomal Recessive	Pectus carinatum, Kyphosis	OMIM:614898
Kyphomelic Dysplasia	Platyspondyly, Disproportionate short stature, Radial bowing, Flared metaphysis, Thoracic hypopla...	OMIM:211350
Ck Syndrome	Kyphosis, Scoliosis, Hyperlordosis, Abnormal digit morphology	OMIM:300831
Mucopolysaccharidosis, Type Vii	Platyspondyly, Thoracolumbar kyphosis, Pectus carinatum, Hypoplasia of the odontoid process, Ante...	OMIM:253220
Holzgreve Syndrome	Intrauterine growth retardation, Abnormal morphology of ulna, Hand polydactyly, Abnormal metacarp...	ORPHA:2167
Infantile-Onset X-Linked Spinal Muscular Atrophy	Ankle flexion contracture, Interphalangeal joint contracture of finger, Elbow flexion contracture...	ORPHA:1145
Osteogenesis Imperfecta, Type Xi	Vertebral wedging, Biconcave vertebral bodies, Kyphoscoliosis, Wormian bones, Coxa vara, Short st...	OMIM:610968
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome	Overlapping toe, Genu valgum, Carpal bone hypoplasia, Short neck, Beaking of vertebral bodies, Th...	ORPHA:457395
Marfanoid Habitus With Situs Inversus	Genu recurvatum, Pectus carinatum, Arachnodactyly, Scoliosis, Kyphosis, Hyperextensibility of the...	OMIM:609008
Arthrogryposis Multiplex Congenita 3, Myogenic Type	Kyphoscoliosis, Flexion contracture of finger, Adducted thumb, Scoliosis, Kyphosis	OMIM:618484
Ossification Anomalies-Psychomotor Developmental Delay Syndrome	Thin ribs, Short distal phalanx of finger, Short 5th finger, Triangular shaped distal phalanges o...	ORPHA:73230
Scapuloperoneal Spinal Muscular Atrophy	Small hand, Clinodactyly, Hyperlordosis, Metatarsus adductus, Hip dysplasia, Scapular winging, Sc...	OMIM:181405
Osteogenesis Imperfecta, Type Xviii	Thin ribs, Femoral bowing, Biconcave vertebral bodies, Bowing of the long bones, Wormian bones, V...	OMIM:617952
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Cone-shaped epiphysis, Metaphyseal spurs, Thoracic hypoplasia, Preaxial polydactyly, Acetabular s...	OMIM:613091
Gm1-Gangliosidosis, Type I	Severe short stature, Intrauterine growth retardation, Thickened ribs, Hypoplastic vertebral bodi...	OMIM:230500
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development	Aplasia/Hypoplasia of the radius, Absent thumb, Short tibia, Fibular hypoplasia, Supernumerary ri...	OMIM:612447
Campomelic Dysplasia	Small abnormally formed scapulae, Hip dislocation, Narrow chest, 11 pairs of ribs, Femoral bowing...	ORPHA:140
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome	Pectus carinatum, Abnormal hip bone morphology, Hyperlordosis, Abnormal rib morphology, Short sta...	ORPHA:3068
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome	Scoliosis, Kyphosis, Prominent metopic ridge	ORPHA:85317
Multiple Pterygium Syndrome, X-Linked	Thin ribs, Joint dislocation, Short finger, Intrauterine growth retardation, Multiple pterygia, V...	OMIM:312150
Osteogenesis Imperfecta, Type X	Platyspondyly, Thin ribs, Narrow chest, Rhizomelia, Thoracic hypoplasia, Broad ribs, Genu valgum,...	OMIM:613848
Dysostosis, Stanescu Type	Abnormal epiphysis morphology, Massively thickened long bone cortices, Persistent open anterior f...	ORPHA:1798
Stickler Syndrome, Type I	Platyspondyly, Abnormal femoral epiphysis morphology, Irregular femoral epiphysis, Spondylolisthe...	OMIM:108300
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome	Short toe, Hyperlordosis, Brachydactyly, Short stature, Kyphosis	ORPHA:3085
Arthrogryposis, Distal, Type 4	Camptodactyly of 2nd-5th fingers, Deviation of the 2nd toe, Fibular deviation of toes, Tibial dev...	OMIM:609128
Multiple Synostoses Syndrome 1	Carpal synostosis, Cutaneous finger syndactyly, Lower limb undergrowth, Proximal/middle symphalan...	OMIM:186500
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome	Intrauterine growth retardation, Disproportionate short-limb short stature, Abnormal rib morphology	ORPHA:2772
Cleidocranial Dysplasia	Hypoplastic scapulae, Abnormal pelvic girdle bone morphology, Hypoplastic inferior ilia, Abnormal...	ORPHA:1452
Ehlers-Danlos Syndrome, Arthrochalasia Type, 2	Hip dislocation, Joint subluxation, Wormian bones, Hallux valgus, Hyperlordosis, Scoliosis, Kypho...	OMIM:617821
Mitochondrial Complex I Deficiency, Nuclear Type 15	Intrauterine growth retardation, Kyphosis	OMIM:618237
Cenani-Lenz Syndrome	Synostosis of joints, Toe syndactyly, Synostosis of carpal bones, Finger syndactyly, Abnormal for...	ORPHA:3258
Thanatophoric Dysplasia Type 2	Platyspondyly, Narrow chest, Brachydactyly, Short thorax, Short stature, Abnormal metaphysis morp...	ORPHA:93274
Clark-Baraitser syndrome	Genu recurvatum, Genu valgum, Scoliosis, Kyphosis, Short palm, Tapered finger	OMIM:300602
Mcdonough Syndrome	Short stature, Pectus excavatum, Scoliosis, Kyphosis	ORPHA:2471
Sandhoff Disease	Kyphosis	ORPHA:796
Lopes-Maciel-Rodan Syndrome	Small hand, Ankle clonus, Short foot, Scoliosis, Kyphosis	OMIM:617435
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome	Cubitus valgus, Kyphosis	ORPHA:1875
Frank-Ter Haar Syndrome	Genu recurvatum, Camptodactyly of finger, Abnormal metacarpal morphology, Beaking of vertebral bo...	ORPHA:137834
4Q21 Microdeletion Syndrome	Small hand, Toe syndactyly, Growth delay, Intrauterine growth retardation, Short neck, Short foot...	ORPHA:238750
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities	Platyspondyly, Epiphyseal dysplasia, Thoracolumbar kyphosis, Disproportionate short stature, Hypo...	OMIM:617425
Opsismodysplasia	Hypoplasia of the odontoid process, Bell-shaped thorax, Short neck, Anterior rib cupping, Flat ac...	OMIM:258480
Myopathy, Centronuclear, 2	Intrauterine growth retardation, Hyperlordosis, Scapular winging, Scoliosis, Kyphosis	OMIM:255200
Thanatophoric Dysplasia Type 1	Platyspondyly, Hypoplastic ilia, Narrow chest, Lethal short-limbed short stature, Femoral bowing,...	ORPHA:1860
Cleidocranial Dysplasia 1	Hypoplastic scapulae, Hypoplastic iliac wing, Delayed pubic bone ossification, Long second metaca...	OMIM:119600
Sialidosis Type 2	Short stature, Pectus carinatum, Kyphosis, Short thorax	ORPHA:87876
Craniometadiaphyseal Dysplasia	Flared metaphysis, Broad long bones, Broad ribs, Genu valgum, Wormian bones, Cubitus valgus, Shor...	OMIM:269300
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly	Hypoplastic ilia, Narrow chest, Thoracic hypoplasia, Lateral clavicle hook, Horizontal ribs, Shor...	OMIM:617895
Intellectual Developmental Disorder, Autosomal Dominant 26	Intrauterine growth retardation, Short stature, Clinodactyly of the 5th finger, Scoliosis, Kyphosis	OMIM:615834
Multiple Pterygium Syndrome, Lethal Type	Thin ribs, Joint dislocation, Short finger, Intrauterine growth retardation, Multiple pterygia, V...	OMIM:253290
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii	Ivory epiphyses, Hypoplastic scapulae, Radial bowing, Hypoplastic iliac wing, Postnatal growth re...	OMIM:210720
Fountain Syndrome	Short distal phalanx of finger, Coarse metaphyseal trabecularization, Abnormal form of the verteb...	ORPHA:3219
Harrod Syndrome	Abnormal pelvic girdle bone morphology, Abnormal shoulder morphology, Intrauterine growth retarda...	ORPHA:2115
Short Stature, Impaired Intellectual Development, Microcephaly, Hypotonia, And Ocular Anomalies	Growth delay, Prominent fingertip pads, Overlapping toe, Bilateral camptodactyly, Short stature, ...	OMIM:619557
Axial Mesodermal Dysplasia Spectrum	Abnormal pelvic girdle bone morphology, Abnormal form of the vertebral bodies, Vertebral segmenta...	ORPHA:1834
Difference Of Sex Development-Intellectual Disability Syndrome	Genu valgum, Short neck, Short thorax, Spina bifida occulta, Kyphosis	ORPHA:2983
Alpha-Mannosidosis	Synostosis of joints, Bowing of the long bones, Short neck, Arthritis, Hip dysplasia, Hypoplastic...	ORPHA:61
Cartilage-Hair Hypoplasia	Asymmetry of the thorax, Abnormal pelvic girdle bone morphology, Hypoplasia of the odontoid proce...	OMIM:250250
Paternal Uniparental Disomy Of Chromosome 5	Rhizomelic arm shortening, Short lower limbs, Abnormal fibular epiphysis morphology, Kyphoscoliosis	ORPHA:96190
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome	Short distal phalanx of finger, Short thumb, Preaxial hand polydactyly, Abnormal thumb morphology...	ORPHA:1120
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome	Absent pubertal growth spurt, Kyphosis, Short stature, Scoliosis, Hip dislocation	ORPHA:464282
Craniometadiaphyseal Dysplasia, Wormian Bone Type	Broad femoral neck, Abnormal diaphysis morphology, Overtubulated long bones, Short tubular bones ...	ORPHA:85184
Cerebrofaciothoracic Dysplasia	Narrow chest, Vertebral segmentation defect, Rib fusion, Short neck, Sprengel anomaly, Hemiverteb...	ORPHA:1394
Poland Syndrome	Small hand, Finger syndactyly, Aplasia/Hypoplasia of the sternum, Aplasia/Hypoplasia of the thumb...	ORPHA:2911
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome	Scoliosis, Kyphosis	ORPHA:2429
Baralle-Macken Syndrome	Kyphosis, Tapered finger	OMIM:619255
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies	Thin ribs, Block vertebrae, Supernumerary vertebrae, Short ribs, Missing ribs, Rib fusion, Short ...	OMIM:271520
9Q21.13 Microdeletion Syndrome	Postnatal growth retardation, Polydactyly, Vertebral segmentation defect, Hip dysplasia, Craniosy...	ORPHA:531151
Lymphangiectasia, Intestinal	Prominent floating ribs	OMIM:152800
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type	Hypoplasia of the odontoid process, Broad long bones, Bell-shaped thorax, Short neck, Anterior ri...	OMIM:271665
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations	Elbow dislocation, Genu valgum, Barrel-shaped chest, Intervertebral space narrowing, Narrow verte...	OMIM:143095
Typical Nemaline Myopathy	Hip dislocation, Narrow chest, Genu valgum, Short neck, Hyperlordosis, Genu varum, Pectus excavat...	ORPHA:171436
Greenberg Dysplasia	Fractured rib, Postaxial foot polydactyly, Supernumerary vertebral ossification centers, Barrel-s...	OMIM:215140
Xylt1-Cdg	Broad thumb, Joint dislocation, Clinodactyly, Flared metaphysis, Growth delay, Broad ribs, Short ...	ORPHA:370930
Osteogenesis Imperfecta, Type Iv	Femoral bowing present at birth, straightening with time, Biconcave flattened vertebrae, Wormian ...	OMIM:166220
Idiopathic Juvenile Osteoporosis	Vertebral compression fracture, Kyphosis	ORPHA:85193
X-Linked Hypophosphatemia	Flattening of the talar dome, Shortening of the talar neck, Rachitic rosary, Abnormal epiphysis m...	ORPHA:89936
Marinesco-Sjogren Syndrome	Kyphosis, Cubitus valgus, Short stature, Short metatarsal, Scoliosis, Short metacarpal, Coxa valga	OMIM:248800
Schaaf-Yang Syndrome	Small hand, Rocker bottom foot, Clinodactyly, Short stature, Brachydactyly, Camptodactyly, Short ...	OMIM:615547
Frontometaphyseal Dysplasia 1	Broad phalanges of the hand, Partial fusion of carpals, Carpal synostosis, Genu valgum, Limited e...	OMIM:305620
Eiken Syndrome	Delayed epiphyseal ossification, Broad femoral neck, Clinodactyly, Long hallux, Broad ribs, Broad...	OMIM:600002
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome	Asymmetry of the thorax, Finger syndactyly, Genu varum, Short stature, Pectus excavatum, Scoliosi...	ORPHA:1969
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation	Postnatal growth retardation, Coat hanger sign of ribs, Thoracic hypoplasia	ORPHA:254534
Renpenning Syndrome	Severe short stature, Growth delay, Abnormal thumb morphology, Sprengel anomaly, Abnormal rib mor...	ORPHA:3242
Cono-Spondylar Dysplasia	Epiphyseal dysplasia, Short 4th toe, Cone-shaped epiphyses of the phalanges of the hand, Short hu...	ORPHA:420794
Multiple Pterygium Syndrome, Escobar Variant	Intercrural pterygium, Dysplastic patella, Patellar aplasia, Arachnodactyly, Short neck, Thoracol...	OMIM:265000
Microcephalic Primordial Dwarfism, Montreal Type	Severe short stature, Scoliosis, Kyphosis, Vertebral segmentation defect	ORPHA:2617
Wieacker-Wolff Syndrome	Hip dislocation, Narrow chest, Short neck, Short stature, Hyperlordosis, Camptodactyly, Scoliosis...	OMIM:314580
Autism Spectrum Disorder Due To Auts2 Deficiency	Joint contracture of the hand, Joint contracture of the 5th finger, Short stature, Scoliosis, Kyp...	ORPHA:352490
Familial Osteodysplasia, Anderson Type	Aplastic clavicle, Bifid femur, Abnormal form of the vertebral bodies, Abnormal rib morphology, E...	ORPHA:2769
Subaortic Stenosis-Short Stature Syndrome	Synostosis of carpal bones, Short neck, Short stature, Scoliosis, Kyphosis	ORPHA:3191
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures	Epiphyseal dysplasia, Radial bowing, Carpal synostosis, Genu valgum, Short neck, Hypoplastic ilia...	OMIM:271640
Ellis-Van Creveld Syndrome	Pectus carinatum, Capitate-hamate fusion, Postaxial foot polydactyly, Narrow chest, Disproportion...	OMIM:225500
Cartilage-Hair Hypoplasia	Small hand, Bowing of the long bones, Short neck, Diaphyseal undertubulation, Metaphyseal dysplas...	ORPHA:175
Uruguay Faciocardiomusculoskeletal Syndrome	Congenital hip dislocation, Joint contracture of the hand, Kyphoscoliosis, Dislocation of toes, C...	OMIM:300280
Radio-Renal Syndrome	Severe short stature, Abnormal form of the vertebral bodies, Short neck, Hypoplasia of the radius...	ORPHA:3015
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development	Thin ribs, Slender long bone, Brachydactyly, Short stature, Craniosynostosis	OMIM:618265
Sjögren-Larsson Syndrome	Short stature, Scoliosis, Kyphosis	ORPHA:816
Pyknoachondrogenesis	Unossified sacrum, Short iliac bones, Horizontal ribs, Poorly ossified vertebrae, Short ribs, Apl...	ORPHA:3003
Mucopolysaccharidosis, Type Iiia	Ovoid thoracolumbar vertebrae, Scoliosis, Thickened ribs	OMIM:252900
Shwachman-Diamond Syndrome 1	Narrow chest, Proximal femoral epiphysiolysis, Metaphyseal sclerosis, Proximal femoral metaphysea...	OMIM:260400
Acrorenal-Mandibular Syndrome	Thin ribs, Hypoplastic scapulae, Toe syndactyly, Narrow chest, Abnormal sacral segmentation, Rudi...	OMIM:200980
Microphthalmia, Lenz Type	Abnormal clavicle morphology, Finger syndactyly, Camptodactyly of finger, Abnormal shoulder morph...	ORPHA:568
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant	Congenital hip dislocation, Hip dislocation, Overlapping fingers, Femur fracture, Adducted thumb,...	OMIM:618291
X-Linked Charcot-Marie-Tooth Disease Type 5	Scoliosis, Kyphosis	ORPHA:99014
Prune Belly Syndrome	Congenital hip dislocation, Vertebral segmentation defect, Abnormal rib morphology, Pectus excava...	ORPHA:2970
Spondyloepimetaphyseal Dysplasia, Sponastrime Type	Platyspondyly, Rhizomelia, Disproportionate short-limb short stature, Lumbar hyperlordosis, Genu ...	OMIM:271510
Mucopolysaccharidosis, Type Iiic	Ovoid thoracolumbar vertebrae, Beaking of vertebral bodies, Thickened ribs, Kyphoscoliosis	OMIM:252930
15Q24 Microdeletion Syndrome	Small hand, Clinodactyly, Postnatal growth retardation, Abnormal thumb morphology, Brachydactyly,...	ORPHA:94065
Campomelia, Cumming Type	Clubbing of toes, Abnormal thorax morphology, Bowing of the long bones, Brachydactyly, Abnormal r...	ORPHA:1318
Wieacker-Wolff Syndrome, Female-Restricted	Narrow chest, Kyphosis, Hip contracture, Short neck, Short stature, Rocker bottom foot, Scoliosis...	OMIM:301041
Cantú Syndrome	Platyspondyly, Short distal phalanx of finger, Narrow chest, Finger syndactyly, Broad ribs, Cuboi...	ORPHA:1517
Zimmermann-Laband Syndrome 2	Short stature, Short neck, Kyphosis	OMIM:616455
Trisomy 13	Abnormal pelvic girdle bone morphology, Narrow chest, Ectrodactyly, Intrauterine growth retardati...	ORPHA:3378
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type	Scoliosis, Kyphosis	OMIM:300861
Pycnodysostosis	Coronal craniosynostosis, Spondylolysis, Small hand, Narrow chest, Abnormal clavicle morphology, ...	ORPHA:763
Spinocerebellar Ataxia, Autosomal Recessive 8	Scoliosis, Kyphosis	OMIM:610743
Mitochondrial Complex I Deficiency, Nuclear Type 11	Scoliosis, Kyphosis	OMIM:618234
X-Linked Intellectual Disability, Cabezas Type	Small hand, Toe syndactyly, Sandal gap, Camptodactyly of finger, Down-sloping shoulders, Cubitus ...	ORPHA:85293
Sialidosis Type 1	Pectus carinatum, Abnormal form of the vertebral bodies, Short thorax, Short stature, Scoliosis, ...	ORPHA:812
Pelger-Huet Anomaly	Short 3rd metacarpal, Upper limb undergrowth, Short 5th metacarpal, Polydactyly, Short 4th metaca...	OMIM:169400
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type	Small hand, Sandal gap, Delayed puberty, Brachydactyly, Short stature, Short foot, Kyphosis	OMIM:300354
Occipital Horn Syndrome	Platyspondyly, Pectus carinatum, Broad clavicles, Narrow chest, Persistent open anterior fontanel...	OMIM:304150
3C Syndrome	Finger syndactyly, Postnatal growth retardation, Abnormal hip bone morphology, Missing ribs, Shor...	ORPHA:7
Cdags Syndrome	Lambdoidal craniosynostosis, Coronal craniosynostosis, Delayed cranial suture closure, Short ribs...	OMIM:603116
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Enlarged metaphyses, Abnormal ilium morphology, Hypoplasia of the odontoid process, Postaxial foo...	ORPHA:508533
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor	Pectus excavatum, Kyphosis, Sacral dimple	OMIM:618272
Marden-Walker Syndrome	Joint contracture of the hand, Abnormal sternum morphology, Postnatal growth retardation, Intraut...	OMIM:248700
Mosaic Trisomy 20	Narrow chest, Clinodactyly, Spinal canal stenosis, Intrauterine growth retardation, Vertebral seg...	ORPHA:1724
Gorlin Syndrome	Abnormal vertebral morphology, Vertebral wedging, Abnormal rib morphology, Arachnodactyly, Rib fu...	ORPHA:377
Mosaic Trisomy 8	Narrow chest, Camptodactyly of finger, Patellar aplasia, Vertebral segmentation defect, Short nec...	ORPHA:96061
Alagille Syndrome	Short distal phalanx of finger, Abnormal form of the vertebral bodies, Intrauterine growth retard...	ORPHA:52
Mucopolysaccharidosis, Type Vi	Epiphyseal dysplasia, Pectus carinatum, Hypoplasia of the odontoid process, Hypoplastic acetabula...	OMIM:253200
Crisponi Syndrome	Scoliosis, Kyphosis, Camptodactyly of finger	ORPHA:1545
Trisomy 9P	Short neck, Brachydactyly, Clinodactyly of the 5th finger, Scoliosis, Kyphosis, Sacral dimple	ORPHA:236
Hemifacial Atrophy, Progressive	Kyphosis	OMIM:141300
Osteogenesis Imperfecta, Type Vii	Narrow chest, Rhizomelia, Crumpled long bones, Delayed cranial suture closure, Multiple rib fract...	OMIM:610682
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy	Kyphosis, Elbow flexion contracture, Sprengel anomaly, Hyperlordosis, Scapular winging, Pectus ex...	ORPHA:98855
Lethal Congenital Contracture Syndrome 10	Narrow chest, Broad ribs, Overlapping fingers, Femoral bowing, Intrauterine growth retardation, T...	OMIM:617022
Atypical Rett Syndrome	Small hand, Growth delay, Short foot, Scoliosis, Kyphosis	ORPHA:3095
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23	Elbow flexion contracture, Kyphosis	OMIM:618138
Orofaciodigital Syndrome Type 3	Postaxial foot polydactyly, Short sternum, Postaxial hand polydactyly, Pectus excavatum, Thoracic...	ORPHA:2752
Antley-Bixler Syndrome	Narrow chest, Camptodactyly of finger, Delayed cranial suture closure, Femoral bowing, Arachnodac...	ORPHA:83
X-Linked Emery-Dreifuss Muscular Dystrophy	Kyphosis, Elbow flexion contracture, Short neck, Sprengel anomaly, Hyperlordosis, Scapular wingin...	ORPHA:98863
Spastic Paraplegia 46, Autosomal Recessive	Scoliosis, Kyphosis, Ankle clonus	OMIM:614409
Chromosome 3Q13.31 Deletion Syndrome	Proximal placement of thumb, Kyphosis	OMIM:615433
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Narrow chest, Thoracic dysplasia, Irregular epiphyses, Hypoplastic iliac wing, Hypoplastic pelvis...	OMIM:208500
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome	Abnormal sternum morphology, Broad ribs, Short ribs, Abnormal rib morphology, Postaxial hand poly...	ORPHA:2519
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Sclerotic vertebral body, Platyspondyly, Pectus carinatum, Erlenmeyer flask deformity of the femu...	OMIM:618476
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5	Kyphosis, Vertebral fusion, Scoliosis, Hyperlordosis	OMIM:606612
Meier-Gorlin Syndrome 1	Thin ribs, Small hand, Joint contracture of the hand, Elbow dislocation, Cutaneous finger syndact...	OMIM:224690
Basal Cell Nevus Syndrome 1	Short distal phalanx of the thumb, Vertebral wedging, Abnormal sternum morphology, Kyphoscoliosis...	OMIM:109400
Hurler Syndrome	Abnormal vertebral morphology, Abnormal epiphysis morphology, Abnormal clavicle morphology, Abnor...	ORPHA:93473
Van Den Ende-Gupta Syndrome	Thin ribs, Hypoplastic scapulae, Long metacarpals, Joint contracture of the hand, Long hallux, Ar...	OMIM:600920
Multiple Pterygium-Malignant Hyperthermia Syndrome	Severe short stature, Ulnar deviation of finger, Finger syndactyly, Camptodactyly of finger, Prom...	ORPHA:2215
Autosomal Dominant Popliteal Pterygium Syndrome	Toe syndactyly, Popliteal pterygium, Finger syndactyly, Split hand, Abnormal rib morphology, Scol...	ORPHA:1300
2Q31.1 Microdeletion Syndrome	Toe syndactyly, Finger syndactyly, Abnormal tibia morphology, Short neck, Abnormal metacarpal mor...	ORPHA:251014
Craniorachischisis	Bifid sternum	ORPHA:63260
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1	Postaxial polydactyly, Kyphosis, Knee flexion contracture, Thoracic scoliosis	OMIM:603387
Emery-Dreifuss Muscular Dystrophy	Kyphosis, Elbow flexion contracture, Sprengel anomaly, Hyperlordosis, Scapular winging, Pectus ex...	ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy	Kyphosis, Elbow flexion contracture, Sprengel anomaly, Hyperlordosis, Scapular winging, Pectus ex...	ORPHA:98853
Pontine Tegmental Cap Dysplasia	Rib fusion, Scoliosis, Hemivertebrae, Ankle clonus	OMIM:614688
Weaver Syndrome	Joint contracture of the hand, Broad thumb, Clinodactyly, Hypoplastic iliac wing, Overlapping toe...	OMIM:277590
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder	Pectus carinatum, Kyphosis	ORPHA:500180
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion	Thoracic hypoplasia, Postnatal growth retardation, Overlapping toe, Intrauterine growth retardati...	ORPHA:254528
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5	Kyphosis, Vertebral fusion, Scoliosis, Hyperlordosis	OMIM:607155
Ullrich Congenital Muscular Dystrophy 1A	Kyphosis, Increased laxity of fingers, Increased laxity of ankles, Scoliosis, Hip dislocation, Sp...	OMIM:254090
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities	Short 5th finger, Slender finger, Small hand, Genu valgum, Thoracolumbar scoliosis, Hyperlordosis...	OMIM:618443
Osteoporosis-Pseudoglioma Syndrome	Platyspondyly, Biconcave vertebral bodies, Kyphoscoliosis, Tibial bowing, Barrel-shaped chest, Se...	OMIM:259770
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome	Narrow chest, Abnormal form of the vertebral bodies, Hip contracture, Posterior scalloping of ver...	ORPHA:3042
Progressive Non-Infectious Anterior Vertebral Fusion	Proximal radio-ulnar synostosis, Abnormality of the vertebral column, Hemivertebrae, Abnormal int...	ORPHA:2062
Gracile Bone Dysplasia	Thin ribs, Slender long bone, Flared metaphysis, Brachydactyly, Short stature	OMIM:602361
Cog1-Cdg	Posterior rib gap, Rhizomelia, Postnatal growth retardation, Butterfly vertebrae, Kyphoscoliosis,...	ORPHA:263508
Osteogenesis Imperfecta, Type Xvii	Platyspondyly, Thin metacarpal cortices, Kyphoscoliosis, Bowed humerus, Short stature, Vertebral ...	OMIM:616507
Cerebrocostomandibular Syndrome	Posterior rib gap, Intrauterine growth retardation, Bell-shaped thorax, Short stature, Clinodacty...	ORPHA:1393
Ulna And Fibula, Absence Of, With Severe Limb Deficiency	Radial bowing, Aplasia/Hypoplasia of the pubic bone, Fibular aplasia, Humeroradial synostosis, Ba...	OMIM:276820
Weill-Marchesani Syndrome 1	Broad phalanges of the hand, Spinal canal stenosis, Broad ribs, Lumbar hyperlordosis, Proportiona...	OMIM:277600
Cohen Syndrome	Finger syndactyly, Sandal gap, Abnormal hip bone morphology, Genu valgum, Intrauterine growth ret...	ORPHA:193
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Broad ribs, Flaring of rib cage, Joint swelling, Fused cervical vertebrae	OMIM:612852
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans	Platyspondyly, Severe short stature, Narrow chest, Disproportionate short stature, Rhizomelia, Lu...	OMIM:616482
Kbg Syndrome	Radial deviation of finger, Cervical ribs, Ulnar deviation of the 2nd finger, Clinodactyly of the...	OMIM:148050
Hurler-Scheie Syndrome	Growth delay, Camptodactyly of finger, Contracture of the distal interphalangeal joint of the fin...	OMIM:607015
Scarf Syndrome	Pectus carinatum, Abnormal form of the vertebral bodies, Short sternum, Short neck, Craniosynostosis	ORPHA:3134
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly	Sandal gap, 2-3 toe syndactyly, Brachydactyly, Scapular winging, Pectus excavatum, Clinodactyly o...	OMIM:617061
Spastic Paraplegia, Optic Atrophy, And Neuropathy	Scoliosis, Kyphosis, Ankle clonus	OMIM:609541
Mitochondrial Dna Depletion Syndrome 11	Kyphosis, Neuropathic spinal arthropathy, Spinal rigidity	OMIM:615084
Noonan Syndrome 14	Pectus carinatum, Clinodactyly, Limited elbow extension, Cubitus valgus, Short neck, Scapular win...	OMIM:619745
Otopalatodigital Syndrome Type 2	Narrow chest, Synostosis of carpal bones, Short thumb, Elbow dislocation, Carpal synostosis, Prea...	ORPHA:90652
3Mc Syndrome	Caudal appendage, Postnatal growth retardation, Radioulnar synostosis, Prominent coccyx, Limited ...	ORPHA:293843
Coffin-Lowry Syndrome	Short distal phalanx of finger, Pseudoepiphyses of the metacarpals, Pectus carinatum, Abnormal fo...	ORPHA:192
Genitopalatocardiac Syndrome	Intrauterine growth retardation, Brachydactyly, Postaxial hand polydactyly, Scoliosis, Kyphosis	ORPHA:2075
Hurler Syndrome	Hypoplasia of the odontoid process, Biconcave vertebral bodies, Hypoplasia of the femoral head, S...	OMIM:607014
19P13.12 Microdeletion Syndrome	Toe clinodactyly, Finger syndactyly, Sandal gap, Intrauterine growth retardation, Short neck, Cra...	ORPHA:254346
Vacterl/Vater Association	Aplasia/Hypoplasia of the radius, Finger syndactyly, Preaxial hand polydactyly, Intrauterine grow...	ORPHA:887
Congenital Myopathy 22A, Classic	Knee contracture, Hip contracture, Thoracic scoliosis, Scapular winging, Congenital finger flexio...	OMIM:620351
Postaxial Acrofacial Dysostosis	Congenital hip dislocation, Short thumb, Supernumerary vertebrae, Postnatal growth retardation, R...	OMIM:263750
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Broad thumb, Toe syndactyly, Shallow acetabular fossae, Hypoplastic iliac wing, Short neck, Aplas...	OMIM:609945
Scarf Syndrome	Lambdoidal craniosynostosis, Coronal craniosynostosis, Pectus carinatum, Abnormal form of the ver...	OMIM:312830
Occipital Horn Syndrome	Synostosis of joints, Delayed cranial suture closure, Humerus varus, Genu valgum, Abnormal fibula...	ORPHA:198
Spondyloarthropathy, Susceptibility To, 1	Hip osteoarthritis, Sacroiliac arthritis, Back pain, Oligoarthritis, Kyphosis	OMIM:106300
Microphthalmia, Syndromic 3	Postnatal growth retardation, Butterfly vertebrae, Missing ribs, Supernumerary ribs, Rib fusion, ...	OMIM:206900
Classical-Like Ehlers-Danlos Syndrome Type 2	Hip dislocation, Joint dislocation, Sandal gap, Elbow dislocation, Knee dislocation, Equinus calc...	ORPHA:536532
Schwartz-Jampel Syndrome	Elbow dislocation, Genu valgum, Hip contracture, Bowing of the long bones, Short neck, Sprengel a...	ORPHA:800
Tetraamelia-Multiple Malformations Syndrome	Missing ribs, Abnormal rib morphology, Abnormally ossified vertebrae, Aplasia/Hypoplasia involvin...	ORPHA:3301
Rett Syndrome	Short stature, Short foot, Scoliosis, Kyphosis	OMIM:312750
Coffin-Lowry Syndrome	Pectus carinatum, Bifid sternum, Kyphosis, Lumbar kyphosis, Tapered finger, Drumstick terminal ph...	OMIM:303600
Kagami-Ogata Syndrome	Thoracic hypoplasia, Postnatal growth retardation, Bell-shaped thorax, Kyphoscoliosis, Short neck...	ORPHA:254519
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Platyspondyly, Polysyndactyly of hallux, Pectus carinatum, Narrow chest, Postaxial polysyndactyly...	OMIM:263520
Campomelic Dysplasia	Thin ribs, Delayed epiphyseal ossification, Hypoplastic scapulae, Hypoplastic cervical vertebrae,...	OMIM:114290
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4	Sandal gap, Camptodactyly of finger, Bicoronal synostosis, 3-4 finger cutaneous syndactyly, 2-3 t...	OMIM:619951
Spondyloenchondrodysplasia	Platyspondyly, Hypoplastic ilia, Short distal phalanx of finger, Pectus carinatum, Disproportiona...	ORPHA:1855
Distal 16P11.2 Microdeletion Syndrome	Arachnodactyly, Kyphosis	ORPHA:261222
Cerebrocostomandibular Syndrome	Posterior rib gap, Congenital hip dislocation, Thoracic hypoplasia, Rib gap, Elbow flexion contra...	OMIM:117650
Fliedner-Zweier Syndrome	Pectus excavatum, Hallux valgus, Scoliosis, Kyphosis	OMIM:620511
Congenital Heart Defects And Skeletal Malformations Syndrome	Sandal gap, Intrauterine growth retardation, Arachnodactyly, Short stature, Pectus excavatum, Cam...	OMIM:617602
Shashi-Pena Syndrome	Kyphosis, Intrauterine growth retardation, Cervical C2/C3 vertebral fusion, Scoliosis, Short meta...	OMIM:617190
Oculocerebrocutaneous Syndrome	Short distal phalanx of finger, Congenital hip dislocation, Finger syndactyly, Missing ribs, Hand...	ORPHA:1647
Lateral Meningocele Syndrome	Abnormal form of the vertebral bodies, Wormian bones, Short neck, Hyperlordosis, Pectus excavatum...	ORPHA:2789
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome	Kyphosis, Neuropathic spinal arthropathy, Spinal rigidity	ORPHA:352447
Alg1-Cdg	Scoliosis, Kyphosis	ORPHA:79327
Frank-Ter Haar Syndrome	Broad clavicles, Growth delay, Flared metaphysis, Delayed cranial suture closure, Anterior concav...	OMIM:249420
Fibrous Dysplasia Of Bone	Abnormal clavicle morphology, Abnormal rib morphology, Abnormal tibia morphology, Abnormal pelvis...	ORPHA:249
2P15P16.1 Microdeletion Syndrome	Toe clinodactyly, Growth delay, Sandal gap, Enlarged thorax, Camptodactyly of finger, Intrauterin...	ORPHA:261349
Ulbright-Hodes Syndrome	Thin ribs, Abnormal forearm bone morphology, Postnatal growth retardation, Fibular aplasia, Humer...	ORPHA:3404
Lipomatosis, Multiple Symmetric, With Or Without Axonal Peripheral Neuropathy	Kyphosis	OMIM:151800
Koolen-De Vries Syndrome	Hip dislocation, Vertebral segmentation defect, Arachnodactyly, Pectus excavatum, Short stature, ...	ORPHA:96169
Paget Disease Of Bone 5, Juvenile-Onset	Barrel-shaped chest, Short humerus, Bowing of the long bones, Lateral femoral bowing, Short statu...	OMIM:239000
Foxg1 Syndrome Due To 14Q12 Microdeletion	Growth delay, Scoliosis, Kyphosis, Prominent metopic ridge	ORPHA:261144
Marfanoid-Progeroid-Lipodystrophy Syndrome	Narrow chest, Intrauterine growth retardation, Arachnodactyly, Long fingers, Scapular winging, Cr...	OMIM:616914
Autosomal Recessive Robinow Syndrome	Toe syndactyly, Synostosis of carpal bones, Finger syndactyly, Broad thumb, Elbow dislocation, Sh...	ORPHA:1507
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities	Elbow flexion contracture, Genu valgum, Hip contracture, Short stature, Finger joint hypermobilit...	OMIM:618493
Aspergillosis	Abnormal long bone morphology, Abnormality of the vertebral column, Abnormal rib morphology	ORPHA:1163
Distal Triplication 15Q	Abnormal sternum morphology, Intrauterine growth retardation, Arachnodactyly, Camptodactyly, Cran...	ORPHA:314588
Ectodermal Dysplasia, Sensorineural Hearing Loss, And Distinctive Facial Features	Radial deviation of finger, Pectus excavatum, Kyphosis, Clinodactyly	OMIM:609944
Camptodactyly Syndrome, Guadalajara Type 3	Small hand, Broad femoral neck, Thickened cortex of long bones, Short neck, Abnormal rib morpholo...	ORPHA:488434
Megalocornea-Intellectual Disability Syndrome	Metatarsus valgus, Genu varum, Short stature, Scoliosis, Kyphosis, Tapered finger	ORPHA:2479
Otopalatodigital Syndrome, Type Ii	Toe syndactyly, Broad thumb, Radial bowing, Rudimentary fibula, Postnatal growth retardation, Ove...	OMIM:304120
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Hypoplastic scapulae, Abnormality of the costochondral junction, Short tibia, Thumb contracture, ...	ORPHA:96334
Cleft Palate-Congenital Heart Defect-Intellectual Disability Syndrome Due To 15Q14 Microdeletion	Short stature, Scoliosis, Kyphosis	ORPHA:261190
Koolen-De Vries Syndrome	Slender finger, Hip dislocation, Prominent fingertip pads, Intrauterine growth retardation, Spond...	OMIM:610443
Gm1 Gangliosidosis	Platyspondyly, Coarse metaphyseal trabecularization, Abnormal form of the vertebral bodies, Abnor...	ORPHA:354
Myhre Syndrome	Platyspondyly, Severe short stature, Abnormal epiphysis morphology, Intrauterine growth retardati...	ORPHA:2588
Osteogenesis Imperfecta	Thin ribs, Abnormal tibia morphology, Enlarged vertebral pedicles, Genu valgum, Bowing of the lon...	ORPHA:666
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome	Kyphosis, Unilateral radial aplasia, Partial absence of thumb, 2-3 toe syndactyly, Pectus excavat...	ORPHA:476126
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome	Aplastic clavicle, Coronal craniosynostosis, Abnormal clavicle morphology, Delayed cranial suture...	ORPHA:85199
Vater/Vacterl Association	Abnormal vertebral morphology, Short thumb, Abnormal rib morphology, Preaxial polydactyly, Abnorm...	OMIM:192350
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Broad distal phalanx of finger, Postaxial foot polydactyly, 2-3 toe syndactyly, Postaxial polydac...	ORPHA:404440
Flynn-Aird Syndrome	Scoliosis, Kyphosis	ORPHA:2047
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Growth delay, Clinodactyly, Radial deviation of finger, Postnatal growth retardation, Kyphoscolio...	OMIM:301040
Lateral Meningocele Syndrome	Biconcave vertebral bodies, Wormian bones, Short neck, Pectus excavatum, Short stature, Vertebral...	OMIM:130720
Congenital Disorder Of Glycosylation, Type Il	Short neck, Hip dislocation, Kyphosis	OMIM:608776
Trisomy 20P	Platyspondyly, Abnormal form of the vertebral bodies, Finger syndactyly, Preaxial hand polydactyl...	ORPHA:261318
Camurati-Engelmann Disease	Abnormal pelvic girdle bone morphology, Aplasia/Hypoplasia of the radius, Abnormality of the vert...	ORPHA:1328
Monosomy 9Q22.3	Abnormality of the vertebral column, Metopic synostosis, Polydactyly, Short neck, Abnormal rib mo...	ORPHA:77301
Marshall-Smith Syndrome	Atlantoaxial dislocation, Hypoplasia of the odontoid process, Bullet-shaped middle phalanges of t...	OMIM:602535
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome	Camptodactyly, Flexion contracture of finger, Scoliosis, Kyphosis	ORPHA:88628
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Abnormal vertebral morphology, Hypoplastic scapulae, Clinodactyly, Humeroradial synostosis, Arach...	ORPHA:95699
Schinzel-Giedion Midface Retraction Syndrome	Short distal phalanx of finger, Increased density of long bones, Short 1st metacarpal, Wide dista...	OMIM:269150
Pelizaeus-Merzbacher Disease	Short stature, Scoliosis, Kyphosis	ORPHA:702
Intellectual Developmental Disorder, X-Linked, Syndromic 33	Postnatal growth retardation, Intrauterine growth retardation, Prominent protruding coccyx, Short...	OMIM:300966
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction	Contracture of the proximal interphalangeal joint of the 3rd finger, Short neck, Sprengel anomaly...	OMIM:618223
Trisomy 1Q	Toe syndactyly, Short thorax, Camptodactyly of finger, Preaxial hand polydactyly, Arachnodactyly,...	ORPHA:261344
Femoral-Facial Syndrome	Toe syndactyly, Humeroradial synostosis, Limited elbow movement, Radioulnar synostosis, Sprengel ...	OMIM:134780
Wolf-Hirschhorn Syndrome	Abnormal vertebral morphology, Abnormality of the vertebral column, Abnormal form of the vertebra...	ORPHA:280
X-Linked Intellectual Disability Due To Gria3 Mutations	Genu recurvatum, Short stature, Scoliosis, Kyphosis	ORPHA:364028
Pontocerebellar Hypoplasia, Type 17	Intrauterine growth retardation, Kyphosis	OMIM:619909
Mucolipidosis Type Ii	Narrow chest, Kyphosis, Limited wrist movement, Postnatal growth retardation, Abnormal long bone ...	ORPHA:576
Srd5A3-Cdg	Abnormal sacrum morphology, Kyphosis	ORPHA:324737
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion	Small hand, Hip dysplasia, Short stature, Short foot, Scoliosis, Kyphosis	ORPHA:500055
Short-Rib Thoracic Dysplasia 15 With Polydactyly	Narrow chest, Cone-shaped epiphysis, Horizontal ribs, Aplasia of the epiglottis, Short ribs, Post...	OMIM:617088
Craniotubular Dysplasia, Ikegawa Type	Platyspondyly, Broad femoral neck, Broad ribs, Increased intervertebral space, Diaphyseal dysplas...	OMIM:619727
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Narrow chest, Short tibia, Preaxial polydactyly, Horizontal ribs, Long thorax, Fibular hypoplasia...	OMIM:617925
Mucopolysaccharidosis, Type Ii	Severe short stature, Short neck, Split hand, Mild short stature, Short stature, Kyphosis	OMIM:309900
Emanuel Syndrome	Congenital hip dislocation, Intrauterine growth retardation, Scoliosis, Kyphosis, Sacral dimple	OMIM:609029
Dystonia 1, Torsion, Autosomal Dominant	Kyphosis, Scoliosis, Hyperlordosis	OMIM:128100
Basel-Vanagaite-Smirin-Yosef Syndrome	Deviation of the 2nd finger, Pectus carinatum, Finger syndactyly, Clinodactyly, Overlapping toe, ...	ORPHA:464738
Basel-Vanagaite-Smirin-Yosef Syndrome	2-3 toe syndactyly, Pectus carinatum, Scoliosis, Kyphosis	OMIM:616449
Alkaptonuria	Intervertebral disk degeneration, Arthropathy, Low back pain, Arthritis, Limitation of knee mobil...	OMIM:203500
Neurofacioskeletal Syndrome With Or Without Renal Agenesis	Broad distal phalanx of finger, Disproportionate short-limb short stature, Hypoplasia of the capi...	OMIM:619194
Cardiofacioneurodevelopmental Syndrome	Camptodactyly, Clinodactyly of the 5th finger, Brachydactyly, Kyphosis	OMIM:619123
Wolf-Hirschhorn Syndrome	Radioulnar synostosis, Short hallux, Hip dislocation, Preaxial hand polydactyly, Severe postnatal...	OMIM:194190
Marden-Walker Syndrome	Severe short stature, Pectus carinatum, Growth delay, Abnormal form of the vertebral bodies, Camp...	ORPHA:2461
Lenz-Majewski Hyperostotic Dwarfism	Severe short stature, Aplastic clavicle, Finger syndactyly, Delayed cranial suture closure, Abnor...	ORPHA:2658
Multiple Endocrine Neoplasia, Type Iib	Proximal femoral epiphysiolysis, Hyperlordosis, Pectus excavatum, Scoliosis, Kyphosis	OMIM:162300
Myasthenic Syndrome, Congenital, 20, Presynaptic	Scoliosis, Kyphosis	OMIM:617143
Plaa-Associated Neurodevelopmental Disorder	Pectus carinatum, Postaxial foot polydactyly, Long fingers, Postaxial hand polydactyly, Rocker bo...	ORPHA:521426
Intellectual Developmental Disorder, Autosomal Dominant 57	Brachydactyly, Absent fourth finger distal interphalangeal crease, Contracture of the proximal in...	OMIM:618050
Pseudoxanthoma Elasticum, Forme Fruste	Scoliosis, Kyphosis, Abnormal sternum morphology	OMIM:177850
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome	Scoliosis, Kyphosis	OMIM:615381
Jaberi-Elahi Syndrome	Pectus carinatum, Scoliosis, Kyphosis	OMIM:617988
Robinow Syndrome, Autosomal Dominant 3	Broad thumb, Clinodactyly, Short neck, Short stature, Brachydactyly, Camptodactyly, Short phalanx...	OMIM:616894
Cockayne Syndrome Type 2	Intrauterine growth retardation, Scoliosis, Kyphosis	ORPHA:90322
Micro Syndrome	Intrauterine growth retardation, Delayed puberty, Short stature, Scoliosis, Kyphosis	ORPHA:2510
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia	Delayed puberty, Bicoronal synostosis, Scoliosis, Kyphosis	OMIM:619718
Shprintzen Omphalocele Syndrome	Narrow chest, Lumbar hyperlordosis, Short stature, Scoliosis, Kyphosis	OMIM:182210
Prader-Willi Syndrome	Small hand, Clinodactyly, Radial deviation of finger, Intrauterine growth retardation, Genu valgu...	OMIM:176270
Hajdu-Cheney Syndrome	Short distal phalanx of finger, Pectus carinatum, Coarse metaphyseal trabecularization, Short toe...	ORPHA:955
Ear-Patella-Short Stature Syndrome	Severe short stature, Aplastic clavicle, Abnormal epiphysis morphology, Slender long bone, Elbow ...	ORPHA:2554
Autosomal Recessive Ataxia, Beauce Type	Scoliosis, Kyphosis, Ankle clonus	ORPHA:88644
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Ankle flexion contracture, Short toe, Intrauterine growth retardation, Abnormality of the cervica...	ORPHA:464311
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies	Pectus carinatum, Postaxial polydactyly, Long fingers, Rocker bottom foot, Kyphosis	OMIM:617527
16Q24.3 Microdeletion Syndrome	Hip dysplasia, Scoliosis, Kyphosis, Proximal placement of thumb	ORPHA:261250
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency	Pectus carinatum, Genu valgum, Arachnodactyly, Pectus excavatum, Scoliosis, Kyphosis	ORPHA:394
Cowden Syndrome 5	Pectus excavatum, Scoliosis, Kyphosis	OMIM:615108
Smith-Lemli-Opitz Syndrome	Hip dislocation, Aplasia/Hypoplasia of the radius, Postaxial foot polydactyly, Abnormal form of t...	ORPHA:818
Zttk Syndrome	Small hand, Growth delay, Cervical ribs, Intrauterine growth retardation, Rib fusion, Hemivertebr...	OMIM:617140
Stickler Syndrome	Platyspondyly, Pectus carinatum, Hip dislocation, Abnormal epiphysis morphology, Abnormal form of...	ORPHA:828
Dyrk1A-Related Intellectual Disability Syndrome	Toe syndactyly, Intrauterine growth retardation, Polydactyly, Arachnodactyly, Abnormality of the ...	ORPHA:464306
Intellectual Developmental Disorder, Autosomal Dominant 73	Toe clinodactyly, Axillary pterygium, Narrow chest, Lumbar hyperlordosis, Limited elbow extension...	OMIM:620450
Turner Syndrome Due To Structural X Chromosome Anomalies	Postnatal growth retardation, Genu valgum, Short neck, Splayed toes, Abnormal forearm bone morpho...	ORPHA:99413
Turner Syndrome	Postnatal growth retardation, Genu valgum, Short neck, Splayed toes, Abnormal forearm bone morpho...	ORPHA:881
Mosaic Monosomy X	Postnatal growth retardation, Genu valgum, Short neck, Splayed toes, Abnormal forearm bone morpho...	ORPHA:99228
Monosomy X	Postnatal growth retardation, Genu valgum, Short neck, Splayed toes, Abnormal forearm bone morpho...	ORPHA:99226
Cowden Syndrome 6	Pectus excavatum, Scoliosis, Kyphosis	OMIM:615109
Intellectual Developmental Disorder, X-Linked 112	Madelung deformity, Kyphoscoliosis, Mild short stature, Short stature, Scoliosis, Kyphosis	OMIM:301111
Brown-Vialetto-Van Laere Syndrome 1	Scoliosis, Kyphosis, Ankle clonus	OMIM:211530
Mend Syndrome	Broad hallux, Overlapping toe, Overlapping fingers, Polydactyly, 2-3 toe syndactyly, Long fingers...	OMIM:300960
Fucosidosis	Anterior beaking of lumbar vertebrae, Kyphosis	ORPHA:349
Mend Syndrome	Broad hallux, Overlapping toe, Overlapping fingers, 2-3 toe syndactyly, Hand polydactyly, Long fi...	ORPHA:401973
X-Linked Intellectual Disability, Snyder Type	Pectus carinatum, Kyphoscoliosis, Arachnodactyly, Long toe, Slender toe, Camptodactyly, Pectus ex...	ORPHA:3063
Pituitary Adenoma 4, Acth-Secreting	Vertebral compression fracture, Kyphosis, Biconcave vertebral bodies	OMIM:219090
Simpson-Golabi-Behmel Syndrome	Congenital hip dislocation, Toe syndactyly, Broad thumb, Finger syndactyly, Short toe, Camptodact...	ORPHA:373
Dextrocardia	Congenital hip dislocation, Abnormal rib morphology	ORPHA:1666
Trisomy 18	Deviation of finger, Growth delay, Camptodactyly of finger, Abnormal hip bone morphology, Intraut...	ORPHA:3380
Postencephalitic Parkinsonism	Camptocormia, Kyphosis	ORPHA:97349
Mgat2-Cdg	Pectus excavatum, Brachydactyly, Scoliosis, Kyphosis	ORPHA:79329
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia	Intrauterine growth retardation, Scoliosis, Kyphosis, Increased femoral anteversion	OMIM:619005
Magel2-Related Prader-Willi-Like Syndrome	Small hand, Hip dysplasia, Short stature, Short foot, Scoliosis, Kyphosis	ORPHA:398069
Monosomy 9P	Abnormality of the vertebral column, Abnormal rib morphology, Abnormality of the tarsal bones, Sh...	ORPHA:261112
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome	Lumbar hyperlordosis, Triphalangeal thumb, Delayed puberty, Contracture of the proximal interphal...	ORPHA:2232
Hereditary Acrokeratotic Poikiloderma	Finger syndactyly, Camptodactyly of finger, Abnormal hip bone morphology, Abnormal metacarpal mor...	ORPHA:2907
Lowe Oculocerebrorenal Syndrome	Platyspondyly, Hip dislocation, Finger swelling, Joint contracture of the hand, Wrist swelling, C...	OMIM:309000
Ramon Syndrome	Juvenile rheumatoid arthritis, Short stature, Scoliosis, Kyphosis	OMIM:266270
Wrinkly Skin Syndrome	Congenital hip dislocation, Slender long bone, Delayed cranial suture closure, Intrauterine growt...	OMIM:278250
Cowden Syndrome 1	Pectus excavatum, Scoliosis, Kyphosis	OMIM:158350
Acth-Independent Macronodular Adrenal Hyperplasia	Kyphosis	OMIM:219080
Pigmented Nodular Adrenocortical Disease, Primary, 2	Kyphosis	OMIM:610475
Koolen-De Vries Syndrome Due To A Point Mutation	Pectus carinatum, Joint dislocation, Prominent fingertip pads, Cervical spinal canal stenosis, Po...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Pectus carinatum, Joint dislocation, Prominent fingertip pads, Cervical spinal canal stenosis, Po...	ORPHA:363958
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome	Asymmetry of the thorax, Lumbar hyperlordosis, Kyphoscoliosis, Arachnodactyly, Metopic synostosis...	ORPHA:457359
Chromosome Xq26.3 Duplication Syndrome	Kyphosis	OMIM:300942
1P36 Deletion Syndrome	Spinal canal stenosis, Camptodactyly of finger, Delayed cranial suture closure, 11 pairs of ribs,...	ORPHA:1606
Mucopolysaccharidosis Type 3	Abnormal clavicle morphology, Abnormal form of the vertebral bodies, Abnormal rib morphology, Ava...	ORPHA:581
Gastrointestinal Defects And Immunodeficiency Syndrome 2	Overlapping fingers, Kyphosis, Knee flexion contracture	OMIM:619708
Autosomal Recessive Malignant Osteopetrosis	Narrow chest, Abnormal epiphysis morphology, Growth delay, Bowing of the long bones, Abnormal rib...	ORPHA:667
Coffin-Siris Syndrome 1	Prominent fingertip pads, Sandal gap, Postnatal growth retardation, Intrauterine growth retardati...	OMIM:135900
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism	Kyphosis	OMIM:619244
Yunis-Varon Syndrome	Hypoplastic scapulae, Toe syndactyly, Clinodactyly, Anterior concavity of thoracic vertebrae, Fla...	OMIM:216340
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation	Kyphosis, Arachnodactyly, Scoliosis, Hyperlordosis	OMIM:617011
Atelis Syndrome 2	Clinodactyly, Kyphosis, Sacral dimple	OMIM:620185
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion	Short 5th toe, 2-4 toe cutaneous syndactyly, Intrauterine growth retardation, Abnormal toe morpho...	ORPHA:268261
Cockayne Syndrome A	Square pelvis bone, Ivory epiphyses of the phalanges of the hand, Hypoplastic iliac wing, Intraut...	OMIM:216400
Pagod Syndrome	Short stature, Abnormal clavicle morphology, Abnormal rib morphology	ORPHA:991
Cockayne Syndrome B	Severe short stature, Square pelvis bone, Kyphosis, Hypoplastic iliac wing, Intrauterine growth r...	OMIM:133540
Oculocerebrorenal Syndrome Of Lowe	Platyspondyly, Patellar dislocation, Kyphosis, Abnormal epiphysis morphology, Genu valgum, Abnorm...	ORPHA:534
Rett Syndrome, Congenital Variant	Scoliosis, Kyphosis	OMIM:613454
Charge Syndrome	Bifid femur, Abnormal tibia morphology, Postnatal growth retardation, Intrauterine growth retarda...	ORPHA:138
Pigmented Nodular Adrenocortical Disease, Primary, 1	Kyphosis	OMIM:610489
Cowden Syndrome	Brachydactyly, Short stature, Pectus excavatum, Scoliosis, Kyphosis	ORPHA:201
Townes-Brocks Syndrome	Abnormal vertebral morphology, Toe clinodactyly, Ulnar deviation of finger, Toe syndactyly, Broad...	ORPHA:857
Alexander Disease	Kyphosis, Short neck, Scoliosis, Hyperlordosis	ORPHA:58
Alstrom Syndrome	Short stature, Scoliosis, Kyphosis, Polydactyly	OMIM:203800
Alagille Syndrome 1	Short distal phalanx of finger, Butterfly vertebral arch, Hypoplasia of the ulna, Hemivertebrae, ...	OMIM:118450
Marfan Syndrome	Pectus carinatum, Spondylolisthesis, Limited elbow movement, Arachnodactyly, Arthralgia/arthritis...	ORPHA:558
Intellectual Developmental Disorder, X-Linked, Syndromic 34	Synostosis of the proximal phalanx of the thumb with the 1st metacarpal, Kyphoscoliosis, Hallux v...	OMIM:300967
Kindler Epidermolysis Bullosa	Finger syndactyly, Camptodactyly of finger, Short 5th metacarpal, Short 4th metacarpal, Abnormal ...	ORPHA:2908
Aspartylglucosaminuria	Platyspondyly, Spondylolysis, Spondylolisthesis, Beaking of vertebral bodies, Short stature, Scol...	OMIM:208400
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Abnormal vertebral morphology, Platyspondyly, Severe short stature, Abnormality of the vertebral ...	ORPHA:2273
Congenital Disorder Of Glycosylation, Type Ia	Kyphosis	OMIM:212065
Primrose Syndrome	Short distal phalanx of finger, Narrow chest, Kyphosis, Genu valgum, Hip contracture, Knee flexio...	OMIM:259050
Neurofibromatosis Type 1	Slender long bone, Abnormal hip bone morphology, Genu valgum, Delayed puberty, Genu varum, Short ...	ORPHA:636
Proteus Syndrome	Macrodactyly, Asymmetry of the thorax, Rib exostoses, Kyphosis, Abnormal form of the vertebral bo...	ORPHA:744
Cockayne Syndrome	Severe short stature, Abnormal epiphysis morphology, Growth delay, Postnatal growth retardation, ...	ORPHA:191
Triosephosphate Isomerase Deficiency	Kyphosis	OMIM:615512
Autosomal Recessive Spastic Paraplegia Type 35	Kyphosis, Ankle clonus	ORPHA:171629
Charge Syndrome	Bifid femur, Short thumb, Hand monodactyly, Absent radius, Postnatal growth retardation, Down-slo...	OMIM:214800
Acromegaly	Macrodactyly, Joint swelling, Cortical diaphyseal thickening of the upper limbs, Osteoarthritis, ...	ORPHA:963
Somatomammotropinoma	Macrodactyly, Joint swelling, Cortical diaphyseal thickening of the upper limbs, Osteoarthritis, ...	ORPHA:314769
Cockayne Syndrome Type 3	Scoliosis, Kyphosis, Mild postnatal growth retardation	ORPHA:90324
Lymphedema-Distichiasis Syndrome	Kyphosis	OMIM:153400
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Intrauterine growth retardation, Genu valgum, Tapered distal phalanges of finger, Back pain, Dela...	OMIM:619475
Williams Syndrome	Synostosis of joints, Abnormal pelvic girdle bone morphology, Abnormality of the ankle, Abnormal ...	ORPHA:904
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction	Scoliosis, Kyphosis	OMIM:619482
17Q11 Microdeletion Syndrome	Abnormality of the vertebral column, Beaking of vertebral bodies T12-L3, Intrauterine growth reta...	ORPHA:97685
Branchiooculofacial Syndrome	Short thumb, Preaxial hand polydactyly, Fusion of middle ear ossicles, Elbow flexion contracture,...	OMIM:113620
Fraser Syndrome	Toe syndactyly, Finger syndactyly, Wide pubic symphysis, Vertebral segmentation defect, Cutaneous...	ORPHA:2052
Viss Syndrome	Pectus carinatum, Kyphosis, Recurrent joint dislocation, Genu valgum, Butterfly vertebrae, Contra...	OMIM:619472
Sotos Syndrome	Abnormal vertebral morphology, Ankle flexion contracture, Hip contracture, 2-3 toe syndactyly, Bi...	ORPHA:821
Alström Syndrome	Short toe, Short finger, Delayed menarche, Thoracic scoliosis, Lumbar scoliosis, Short stature, K...	ORPHA:64

Histopathology

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

There is no histopathology data for Hoxc9

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 Hoxc9.

No publications found that use IMPC mice or data for Hoxc9.

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Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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