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Gene: Uncx MGI:108013

Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:

UNC homeobox

Synonyms:

Uncx4.1, Chx4

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 Uncx 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 Uncx (0 diseases)
Human diseases predicted to be associated with Uncx (1138 diseases)

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

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

Disease	Matching phenotypes	Source
Spondylocostal Dysostosis 3, Autosomal Recessive	Supernumerary vertebral ossification centers, Scoliosis, Vertebral segmentation defect, Kyphosis,...	OMIM:609813
Spondylocostal Dysostosis 2, Autosomal Recessive	Hemivertebrae, Vertebral segmentation defect, Vertebral clefting, Rib fusion, Short neck	OMIM:608681
Spondylocostal Dysostosis 1, Autosomal Recessive	Kyphoscoliosis, Abnormal odontoid process morphology, Hemivertebrae, Vertebral segmentation defec...	OMIM:277300
Acromesomelic Dysplasia, Maroteaux Type	Beaking of vertebral bodies, Abnormal form of the vertebral bodies, Vertebral wedging, Scoliosis,...	ORPHA:40
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type	Genu valgum, Intervertebral space narrowing, Flat capital femoral epiphysis, Pectus carinatum, Sc...	OMIM:609223
Metatropic Dysplasia	Kyphoscoliosis, Narrow greater sciatic notch, Relatively short spine, Short ribs, Long coccyx, Cu...	OMIM:156530
Pelvic Hypoplasia With Lower-Limb Arthrogryposis	Narrow chest, Scoliosis, Scapular winging, Hip contracture, Narrow pelvis bone, Knee flexion cont...	OMIM:602484
Autosomal Dominant Spondylocostal Dysostosis	Spina bifida occulta, Short thorax, Scoliosis, Hyperlordosis, Vertebral segmentation defect, Abno...	ORPHA:1797
Spondylocostal Dysostosis 5	Butterfly vertebrae, Pectus carinatum, Scoliosis, Hemivertebrae, Missing ribs, Supernumerary ribs...	OMIM:122600
Acrocapitofemoral Dysplasia	Narrow chest, Short thorax, Pectus carinatum, Scoliosis, Hyperlordosis, Pectus excavatum, Flared ...	ORPHA:63446
Spondylometaphyseal Dysplasia, Type A4	Narrow greater sciatic notch, Sclerotic humeral metaphysis, Costochondral joint sclerosis, Enlarg...	OMIM:609052
Brachyolmia Type 1, Toledo Type	Kyphoscoliosis, Squared-off platyspondyly, Abnormal odontoid process morphology, Precocious costo...	OMIM:271630
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3	Hypoplasia of the ulna, Carpal bone hypoplasia, Multiple joint dislocation, Dislocated radial hea...	OMIM:618395
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability	Spondylolysis, Spondylolisthesis at L5-S1, Ankle clonus, Atlantoaxial instability, Hypoplasia of ...	OMIM:600561
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome	Clinodactyly of the 5th finger, Finger syndactyly, Pectus carinatum, Scoliosis, Abnormal rib morp...	ORPHA:3268
Poland Syndrome	Short ribs, Hemivertebrae, Sprengel anomaly, Unilateral oligodactyly, Syndactyly, Rib fusion, Uni...	OMIM:173800
Spondylometaphyseal Dysplasia, X-Linked	Short finger, Respiratory insufficiency, Pectus carinatum, Hyperextensibility of the finger joint...	OMIM:313420
Becker Nevus Syndrome	Abnormal tibia morphology, Spina bifida occulta, Pectus carinatum, Scoliosis, Pectus excavatum, K...	ORPHA:64755
Brachyolmia, Maroteaux Type	Abnormal form of the vertebral bodies, Short thorax, Scoliosis, Pectus excavatum, Platyspondyly	ORPHA:93302
Schneckenbecken Dysplasia	Lateral clavicle hook, Stillbirth, Advanced ossification of carpal bones, Narrow chest, Snail-lik...	OMIM:269250
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits	Overlapping fingers, Sandal gap, Short hallux, Scoliosis, Absent dorsal skin creases over affecte...	OMIM:618167
Atelosteogenesis, Type Ii	Stillbirth, Sandal gap, Short greater sciatic notch, Respiratory insufficiency, Increased interve...	OMIM:256050
Autosomal Dominant Brachyolmia	Kyphoscoliosis, Abnormal metaphysis morphology, Increased vertebral height, Short thorax, Platysp...	ORPHA:93304
Spondyloepimetaphyseal Dysplasia, Irapa Type	Limited elbow extension, Hypoplastic sacrum, Genu valgum, Enlargement of the costochondral juncti...	OMIM:271650
Metaphyseal Chondrodysplasia, Schmid Type	Short tubular bones of the hand, Distal femoral metaphyseal irregularity, Femoral bowing, Short l...	ORPHA:174
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness	Beaking of vertebral bodies, Narrow greater sciatic notch, Cone-shaped epiphyses of the phalanges...	OMIM:609616
Spondyloepimetaphyseal Dysplasia, Shohat Type	Narrow greater sciatic notch, Bell-shaped thorax, Vertebral compression fracture, Flared metaphys...	OMIM:602557
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type	Narrow greater sciatic notch, Limited elbow extension, Irregular epiphyses, Dysplastic iliac wing...	OMIM:608728
Anauxetic Dysplasia 2	Cubitus valgus, Hyperlordosis, Thoracolumbar kyphoscoliosis, Cervical spine instability, Hypoplas...	OMIM:617396
Spondyloepimetaphyseal Dysplasia, Strudwick Type	Narrow greater sciatic notch, Genu valgum, Delayed pubic bone ossification, Metaphyseal dappling,...	OMIM:184250
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset	Spinal rigidity, Scoliosis, Death in adolescence, Respiratory insufficiency due to muscle weaknes...	OMIM:300717
Spondylometaphyseal Dysplasia, Corner Fracture Type	Hyperconvex vertebral body endplates, Corner fracture of metaphysis, Pectus carinatum, Scoliosis,...	OMIM:184255
Brachyolmia Type 1, Hobaek Type	Squared-off platyspondyly, Lumbar hypolordosis, Short iliac bones, Sclerotic foci of metaphyses o...	OMIM:271530
Spondylometaphyseal Dysplasia, Axial	Optic atrophy, Narrow greater sciatic notch, Narrow chest, Scoliosis, Coxa vara, Anterior rib cup...	OMIM:602271
Metaphyseal Chondrodysplasia, Spahr Type	Abnormal metaphysis morphology, Scoliosis, Hyperlordosis, Bowing of the long bones, Short lower l...	ORPHA:2501
Thoracomelic Dysplasia	Abnormal metaphysis morphology, Abnormal fibula morphology, Diaphyseal undertubulation, Genu valg...	ORPHA:1803
Progressive Pseudorheumatoid Arthropathy Of Childhood	Wrist swelling, Hyperlordosis, Broad femoral neck, Genu varum, Abnormal ilium morphology, Flat ca...	ORPHA:1159
Femoral-Facial Syndrome	Abnormal fibula morphology, Scoliosis, Vertebral segmentation defect, Abnormal pelvic girdle bone...	ORPHA:1988
Autosomal Recessive Spondylocostal Dysostosis	Abnormal intervertebral disk morphology, Spina bifida occulta, Abnormal form of the vertebral bod...	ORPHA:2311
Spondylocostal Dysostosis 4, Autosomal Recessive	Abnormal odontoid process morphology, Bell-shaped thorax, Spina bifida occulta, Short thorax, Sco...	OMIM:613686
Heart Defects-Limb Shortening Syndrome	Abnormal metaphysis morphology, Narrow chest, Abnormal form of the vertebral bodies, Abnormal rib...	ORPHA:1354
Diastrophic Dysplasia	Kyphoscoliosis, Short finger, Genu valgum, Irregular epiphyses, Hitchhiker thumb, Scoliosis, Shor...	OMIM:222600
Hypochondroplasia	Limited elbow extension, Flared metaphysis, Short long bone, Trident hand, Widened interpedicular...	OMIM:146000
Spondyloepimetaphyseal Dysplasia, Shohat Type	Squared-off platyspondyly, Fibular overgrowth, Abnormal vertebral morphology, Vertebral compressi...	ORPHA:93352
Isolated Klippel-Feil Syndrome	Abnormal shoulder morphology, Cervical C2/C3 vertebral fusion, Abnormality of the vertebral colum...	ORPHA:2345
Spondyloepimetaphyseal Dysplasia, Handigodu Type	Hip subluxation, Abnormal intervertebral disk morphology, Arthralgia of the hip, Abnormality of t...	ORPHA:99642
Myosclerosis, Autosomal Recessive	Thoracolumbar scoliosis, Spinal rigidity, Facial palsy, Lumbar hyperlordosis	OMIM:255600
Spondylometaphyseal Dysplasia, A4 Type	Platyspondyly, Flared, irregular rib ends, Short palm, Coxa vara	ORPHA:168555
Rigid Spine Syndrome	Spinal rigidity, Respiratory insufficiency, Scoliosis, Hyperlordosis, Elbow flexion contracture, ...	ORPHA:97244
Spondyloepimetaphyseal Dysplasia, Matrilin-3 Type	Limited elbow extension, Pectus excavatum, Enlarged joints, Thoracic hypoplasia, Bowing of the le...	ORPHA:156728
Pseudoachondroplasia	Abnormal form of the vertebral bodies, Short long bone, Flat acetabular roof, Increased laxity of...	ORPHA:750
Endosteal Hyperostosis, Worth Type	Diaphyseal undertubulation, Clavicular sclerosis, Sclerotic vertebral body, Abnormal form of the ...	ORPHA:2790
Spinal Muscular Atrophy, Infantile, James Type	Respiratory insufficiency, Scoliosis, Hip contracture, Lumbar hyperlordosis	OMIM:619042
Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant	Kyphoscoliosis, Barrel-shaped chest, Pectus carinatum, Arthritis, Hypoplasia of the odontoid proc...	OMIM:184100
Hypochondroplasia	Abnormal metaphysis morphology, Abnormal femur morphology, Abnormal form of the vertebral bodies,...	ORPHA:429
Congenital Myopathy 10A, Severe Variant	Respiratory insufficiency, Scoliosis, Facial palsy, Pectus excavatum, Camptodactyly of finger, Ab...	OMIM:614399
Axial Spondylometaphyseal Dysplasia	Narrow greater sciatic notch, Hypoplastic iliac wing, Delayed ossification of carpal bones, Short...	ORPHA:168549
Spondyloepiphyseal Dysplasia Tarda, X-Linked	Irregular epiphyses, Barrel-shaped chest, Hip osteoarthritis, Hypoplastic iliac wing, Scoliosis, ...	OMIM:313400
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset	Spinal rigidity, Scoliosis, Hyperlordosis, Kyphosis, Respiratory insufficiency due to muscle weak...	OMIM:300718
Congenital Muscular Dystrophy Due To Lmna Mutation	Spinal rigidity, Narrow chest, Respiratory insufficiency, Hyperlordosis, Death in infancy	ORPHA:157973
Thanatophoric Dysplasia, Type Ii	Narrow chest, Short greater sciatic notch, Respiratory insufficiency, Flared metaphysis, Wide-cup...	OMIM:187601
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2	Broad distal phalanx of finger, Streaky metaphyseal sclerosis, Dislocated radial head, Kyphosis, ...	OMIM:603546
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant	Knee flexion contracture, Scoliosis, Hyperlordosis, Scapular winging, Pectus excavatum, Kyphosis,...	OMIM:615290
Absence Deformity Of Leg-Cataract Syndrome	Abnormal femur morphology, Scoliosis, Hyperlordosis, Lower limb undergrowth, Abnormal epiphysis m...	ORPHA:2310
Pseudoachondroplasia	Short long bone, Short metacarpal, Kyphosis, Metaphyseal irregularity, Short distal phalanx of fi...	OMIM:177170
Epiphyseal Dysplasia, Multiple, With Severe Proximal Femoral Dysplasia	Flared femoral metaphysis, Genu valgum, Flat distal femoral epiphysis, Arthralgia of the hip, Irr...	OMIM:609324
Neurogenic Thoracic Outlet Syndrome	Abnormal rib morphology	ORPHA:100073
Spondyloepiphyseal Dysplasia Tarda, Kohn Type	Abnormal vertebral morphology, Abnormal ilium morphology, Bilateral coxa valga, Abnormality of th...	ORPHA:163665
Spondylometaphyseal Dysplasia, Kozlowski Type	Short tubular bones of the hand, Short greater sciatic notch, Pectus carinatum, Flat acetabular r...	ORPHA:93314
Spondylometaphyseal Dysplasia With Corneal Dystrophy	Beaking of vertebral bodies, Death in childhood, Lumbar platyspondyly, Narrow chest, Increased in...	OMIM:618961
Three M Syndrome 1	Increased vertebral height, Clinodactyly of the 5th finger, Spina bifida occulta, Slender long bo...	OMIM:273750
Congenital Myopathy 16	Scoliosis, Spinal rigidity, Scapular winging, Lumbar hyperlordosis	OMIM:618524
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis	Kyphoscoliosis, Genu valgum, Small epiphyses, Short thorax, Scoliosis, Hyperlordosis, Short long ...	OMIM:618363
Craniometadiaphyseal Dysplasia, Wormian Bone Type	Short tubular bones of the hand, Abnormal diaphysis morphology, Wide anterior fontanel, Overtubul...	ORPHA:85184
Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability	Spinal rigidity, Respiratory insufficiency, Scoliosis, Hyperlordosis, Kyphosis	OMIM:617404
Nemaline Myopathy 5C, Autosomal Dominant	Respiratory insufficiency, Pectus carinatum, Scoliosis, Hyperlordosis, Scapular winging	OMIM:620389
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 4	Scoliosis, Hyperlordosis, Respiratory insufficiency due to muscle weakness, Joint contracture of ...	OMIM:611067
Epiphyseal Dysplasia, Multiple, 7	Monkey wrench femoral neck, Vertebral wedging, Flat acetabular roof, Epiphyseal dysplasia, Hypopl...	OMIM:617719
Osteogenesis Imperfecta, Type Ix	Pectus carinatum, Scoliosis, Wormian bones, Pectus excavatum, Kyphosis, Short lower limbs, Platys...	OMIM:259440
Scheuermann Disease	Osteochondrosis, Kyphosis, Morbus Scheuermann	OMIM:181440
Crisponi/Cold-Induced Sweating Syndrome 2	Limited elbow extension, Cubitus valgus, 2-3 toe syndactyly, Thoracolumbar scoliosis, Clinodactyl...	OMIM:610313
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 8	Scoliosis, Hyperlordosis, Elbow flexion contracture, Kyphosis, Hip contracture, Knee flexion cont...	OMIM:600175
Spondylometaphyseal Dysplasia, Kozlowski Type	Kyphoscoliosis, Narrow greater sciatic notch, Cone-shaped epiphyses of the phalanges of the hand,...	OMIM:184252
Achondroplasia	Narrow greater sciatic notch, Limited elbow extension, Ulnar bowing, Flared metaphysis, Short rib...	OMIM:100800
Congenital Arthrogryposis With Anterior Horn Cell Disease	Rocker bottom foot, Scoliosis, Facial diplegia, Kyphosis, Respiratory failure, Respiratory insuff...	OMIM:611890
Smith-Mccort Dysplasia 2	Limited elbow extension, Genu valgum, Barrel-shaped chest, Short metatarsal, Pectus carinatum, Hy...	OMIM:615222
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type	Lower-limb metaphyseal irregularity, Enlarged metaphyses, Scoliosis, Short long bone, Upper-limb ...	OMIM:618728
Microcephaly-Cervical Spine Fusion Anomalies Syndrome	Abnormal clavicle morphology, Fused cervical vertebrae, Abnormal hip bone morphology, Hyperlordos...	ORPHA:2522
Spondyloepiphyseal Dysplasia Tarda	Kyphoscoliosis, Limited elbow movement, Spurred metaphyses of the upper limbs, Enlarged metaphyse...	ORPHA:93284
Alpha-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R3	Hyperlordosis, Scapular winging, Thoracic scoliosis	ORPHA:62
Mucopolysaccharidosis, Type Iva	Pectus carinatum, Hyperlordosis, Kyphosis, Constricted iliac wing, Large elbow, Coxa valga, Cervi...	OMIM:253000
Familial Anetoderma	Abnormal tibia morphology, Lumbar hyperlordosis	ORPHA:228277
Spondyloepiphyseal Dysplasia, Stanescu Type	Kyphoscoliosis, Beaking of vertebral bodies, Internal tibial torsion, Vertebral wedging, Hypoplas...	OMIM:616583
Sprengel Deformity	Cervical segmentation defect, Spina bifida occulta, Scoliosis, Hemivertebrae, Sprengel anomaly, R...	OMIM:184400
Cartilage-Hair Hypoplasia	Limited elbow extension, Aganglionic megacolon, Asymmetry of the thorax, Narrow chest, Metaphysea...	OMIM:250250
Spondyloepiphyseal Dysplasia Tarda With Mental Retardation	Platyspondyly, Anterior beaking of lumbar vertebrae, Coxa valga, Short greater sciatic notch	OMIM:271620
Fibrochondrogenesis 2	Bell-shaped thorax, Metaphyseal cupping, Hypoplastic pubic bone, Short ribs, Short long bone, Cup...	OMIM:614524
Dental Anomalies And Short Stature	Intervertebral space narrowing, Scoliosis, Narrow vertebral interpedicular distance, Platyspondyl...	OMIM:601216
Kyphomelic Dysplasia	Lateral clavicle hook, Abnormal metaphysis morphology, Narrow chest, Abnormal form of the vertebr...	ORPHA:1801
Metaphyseal Chondrodysplasia, Schmid Type	Femoral bowing, Broad femoral neck, Abnormal proximal femoral metaphysis morphology, Distal tibia...	OMIM:156500
Dyggve-Melchior-Clausen Disease	Narrow greater sciatic notch, Multicentric ossification of proximal humeral epiphyses, Cone-shape...	OMIM:223800
Microbrachycephaly-Ptosis-Cleft Lip Syndrome	Abnormal thumb morphology, Abnormality of the wrist, Abnormal metacarpal morphology, Scoliosis, H...	ORPHA:2511
Diaphanospondylodysostosis	Absent or minimally ossified vertebral bodies, Short thorax, Enlarged thorax, Missing ribs, Short...	ORPHA:66637
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities	Clinodactyly of the 5th finger, 11 pairs of ribs, Clinodactyly of the 2nd finger, Scoliosis, Narr...	OMIM:620073
Mucolipidosis Type Iii	Abnormal hip bone morphology, Abnormal form of the vertebral bodies, Hyperlordosis, Large iliac w...	ORPHA:577
Metatropic Dysplasia	Abnormal metaphysis morphology, Clinodactyly of the 5th finger, Abnormal intervertebral disk morp...	ORPHA:2635
Thoracolaryngopelvic Dysplasia	Bell-shaped thorax, Hypoplastic iliac wing, Scoliosis, Short ribs, Irregular chondrocostal juncti...	OMIM:187760
Bicd2-Related Autosomal Dominant Childhood-Onset Proximal Spinal Muscular Atrophy	Hyperlordosis, Hip dysplasia	ORPHA:363454
Osteoarthritis With Mild Chondrodysplasia	Beaking of vertebral bodies, Hip osteoarthritis, Knee osteoarthritis, Heberden's node, Irregular ...	OMIM:604864
Desbuquois Dysplasia 1	Sandal gap, Hyperlordosis, Flat acetabular roof, Kyphosis, Broad femoral neck, Bifid distal phala...	OMIM:251450
3M Syndrome	Rocker bottom foot, Hypoplasia of the ulna, Abnormal metaphysis morphology, Increased vertebral h...	ORPHA:2616
Calpain-3-Related Limb-Girdle Muscular Dystrophy R1	Spinal rigidity, Ankle flexion contracture, Hyperlordosis, Scapular winging, Wrist flexion contra...	ORPHA:267
Spondylometaphyseal Dysplasia, Algerian Type	Kyphoscoliosis, Short tubular bones of the hand, Carpal bone hypoplasia, Flared femoral metaphysi...	OMIM:184253
Dyggve-Melchior-Clausen Disease	Abnormal hip bone morphology, Pectus carinatum, Abnormal femoral head morphology, Short long bone...	ORPHA:239
Spondyloepimetaphyseal Dysplasia, Irapa Type	Abnormal metaphysis morphology, Abnormal carpal morphology, Genu valgum, Short metatarsal, Upper ...	ORPHA:93351
Greenberg Dysplasia	Narrow chest, Abnormal form of the vertebral bodies, Abnormal pelvis bone ossification, Anterior ...	ORPHA:1426
Cutis Laxa, Autosomal Recessive, Type Iie	Clinodactyly of the 5th finger, Short thorax, Scoliosis, Pectus excavatum, Ovoid vertebral bodies...	OMIM:619451
Pontine Tegmental Cap Dysplasia	Scoliosis, Hemivertebrae, Facial palsy, Rib fusion, Ankle clonus	OMIM:614688
Spondyloepimetaphyseal Dysplasia, Missouri Type	Limited elbow extension, Small epiphyses, Ulnar bowing, Pear-shaped vertebrae, Irregular scleroti...	OMIM:602111
Imperforate Oropharynx-Costovertebral Anomalies Syndrome	Clinodactyly of the 5th finger, Abnormal form of the vertebral bodies, Hemivertebrae, Missing rib...	ORPHA:2759
Mucopolysaccharidosis Type 4	Abnormal metaphysis morphology, Genu valgum, Joint dislocation, Short thorax, Pectus carinatum, S...	ORPHA:582
Spondyloepiphyseal Dysplasia, Kimberley Type	Platyspondyly, Osteoarthritis, Abnormal epiphysis morphology, Short thorax	ORPHA:93283
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 3	Hyperlordosis	OMIM:607088
Mucopolysaccharidosis, Type X	Beaking of vertebral bodies, Genu valgum, Spatulate ribs, Broad clavicles, Scoliosis, Hyperlordos...	OMIM:619698
Pyle Disease	Limited elbow extension, Genu valgum, Cubitus valgus, Scoliosis, Metaphyseal widening, Metaphysea...	OMIM:265900
Spondylocamptodactyly Syndrome	Platyspondyly, Camptodactyly of finger, Scoliosis	ORPHA:3180
Acromesomelic Dysplasia 1	Beaking of vertebral bodies, Hypoplasia of the radius, Broad finger, Limited elbow extension, Sho...	OMIM:602875
Cerebrofaciothoracic Dysplasia	Bifid ribs, Narrow chest, Scoliosis, Hemivertebrae, Vertebral segmentation defect, Sprengel anoma...	ORPHA:1394
Mesomelic Dysplasia, Kantaputra Type	Abnormal fibula morphology, Tarsal synostosis, Clinodactyly of the 5th finger, Cubitus valgus, Du...	ORPHA:1836
Alpha-Dystroglycan-Related Limb-Girdle Muscular Dystrophy R16	Ankle flexion contracture, Lumbar hyperlordosis	ORPHA:280333
Spondyloepiphyseal Dysplasia, Kimberley Type	Platyspondyly, Genu valgum, Flat capital femoral epiphysis, Genu varum	OMIM:608361
Thanatophoric Dysplasia, Type I	Metaphyseal irregularity, Narrow chest, Short greater sciatic notch, Flared metaphysis, Wide-cupp...	OMIM:187600
Multiple Epiphyseal Dysplasia, Beighton Type	Lumbar platyspondyly, Abnormal hand metaphysis morphology, Biconcave vertebral bodies, Abnormal m...	ORPHA:166011
Spastic Paraplegia 87, Autosomal Recessive	Lumbar hyperlordosis	OMIM:619966
Dysspondyloenchondromatosis	Kyphoscoliosis, Abnormal fibula morphology, Abnormal ulnar metaphysis morphology, Genu valgum, Jo...	ORPHA:85198
Pelvis-Shoulder Dysplasia	Clinodactyly of the 5th finger, Spina bifida occulta, Short clavicles, Hypoplastic acetabulae, Hy...	OMIM:169550
Myhre Syndrome	Short finger, Radial deviation of finger, Enlarged vertebral pedicles, Respiratory insufficiency,...	OMIM:139210
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age	Limited elbow extension, Butterfly vertebrae, Genu valgum, Monkey wrench femoral neck, Clinodacty...	OMIM:618870
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B	Optic atrophy, Scoliosis, Kyphosis, Respiratory insufficiency due to muscle weakness, Optic disc ...	OMIM:617087
Smith-Mccort Dysplasia 1	Beaking of vertebral bodies, Genu valgum, Irregular epiphyses, Barrel-shaped chest, Hypoplastic a...	OMIM:607326
Acropectorovertebral Dysplasia	Abnormal vertebral morphology, Spina bifida occulta at L5, Finger syndactyly, Synostosis of carpa...	OMIM:102510
Congenital Myopathy 2A, Typical, Autosomal Dominant	Spinal rigidity, Respiratory insufficiency, Scoliosis, Hyperlordosis, Facial palsy, Respiratory i...	OMIM:161800
Nemaline Myopathy 7	Kyphoscoliosis, Genu recurvatum, Respiratory insufficiency due to muscle weakness, Knee flexion c...	OMIM:610687
Ullrich Congenital Muscular Dystrophy	Spinal rigidity, Adducted thumb, Scoliosis, Elbow flexion contracture, Kyphosis, Slender finger, ...	ORPHA:75840
Masa Syndrome	Adducted thumb, Hyperlordosis, Kyphosis	OMIM:303350
Myopathy, Centronuclear, 2	Scoliosis, Hyperlordosis, Facial palsy, Scapular winging, Kyphosis, Respiratory insufficiency due...	OMIM:255200
Isolated Glycerol Kinase Deficiency	Scoliosis, Hyperlordosis	ORPHA:408
Congenital Muscular Dystrophy With Intellectual Disability	Respiratory insufficiency, Scoliosis, Facial palsy, Respiratory failure, Hip dislocation, Decreas...	ORPHA:370968
Scapuloperoneal Spinal Muscular Atrophy	Respiratory insufficiency, Scoliosis, Hyperlordosis, Facial palsy, Scapular winging, Kyphosis, Me...	OMIM:181405
Myasthenic Syndrome, Congenital, 5	Respiratory insufficiency, Scoliosis, Hyperlordosis, Respiratory insufficiency due to muscle weak...	OMIM:603034
Nemaline Myopathy 8	Respiratory failure, Facial palsy, Flexion contracture, Death in infancy	OMIM:615348
Developmental And Speech Delay Due To Sox5 Deficiency	Optic atrophy, Butterfly vertebrae, Pectus carinatum, Scoliosis, Thoracic kyphoscoliosis, 2-3 toe...	ORPHA:313892
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers	Thoracic kyphosis, Elbow flexion contracture, Lumbar hyperlordosis, Thoracic scoliosis	ORPHA:206546
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly	Hyperlordosis, Femoral bowing, Short long bone, Kyphosis, Thoracic hypoplasia, Metaphyseal irregu...	OMIM:618019
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness	Short ribs, Short long bone, Cupped ribs, Metaphyseal irregularity, Genu varum, Metaphyseal cuppi...	OMIM:250420
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies	Scoliosis, Hemivertebrae, Short ribs, Thin ribs, Missing ribs, Block vertebrae, Rib fusion, Short...	OMIM:271520
Intellectual Developmental Disorder, X-Linked 82	Scoliosis, Kyphosis	OMIM:300518
Spondyloepimetaphyseal Dysplasia, Di Rocco Type	Delayed ossification of carpal bones, Irregular acetabular roof, Metaphyseal dysplasia, Platyspon...	OMIM:617974
Osteogenesis Imperfecta, Type Xv	Platyspondyly, Thin ribs, Scoliosis	OMIM:615220
Brachyolmia Type 3	Radial deviation of finger, Barrel-shaped chest, Scoliosis, Kyphosis, Short femoral neck, Platysp...	OMIM:113500
Avascular Necrosis Of Femoral Head, Primary, 2	Platyspondyly, Avascular necrosis of the capital femoral epiphysis	OMIM:617383
Myopathic Ehlers-Danlos Syndrome	Kyphoscoliosis, Ankle flexion contracture, Shoulder flexion contracture, Congenital bilateral hip...	ORPHA:536516
Osteogenesis Imperfecta	Abnormal femur morphology, Abnormal hip bone morphology, Abnormal form of the vertebral bodies, D...	ORPHA:666
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies	Abnormality of the cervical spine, Superior rib anomalies	OMIM:307500
Myopathy, Scapulohumeroperoneal	Facial palsy, Scoliosis, Hyperlordosis, Scapular winging	OMIM:616852
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3	Sacral dimple, Short thorax, Vertebral segmentation defect, Death in infancy, Vertebral fusion	OMIM:618845
Congenital Disorder Of Glycosylation, Type Iig	Kyphoscoliosis, Butterfly vertebrae, Vertebral segmentation defect, Posterior rib gap, Short long...	OMIM:611209
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome	Abnormal clavicle morphology, Abnormal metaphysis morphology, Proximal placement of thumb, Narrow...	ORPHA:93267
Multiple Pterygium Syndrome, Escobar Variant	Rocker bottom foot, Dislocated radial head, Kyphosis, Arachnodactyly, Syndactyly, Hip dislocation...	OMIM:265000
Typical Nemaline Myopathy	Spinal rigidity, Genu valgum, Narrow chest, Respiratory insufficiency, Scoliosis, Hyperlordosis, ...	ORPHA:171436
Multiple Epiphyseal Dysplasia, Al-Gazali Type	Abnormal vertebral morphology, Spindle-shaped finger, Genu valgum, Delayed epiphyseal ossificatio...	ORPHA:166024
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4	Back pain, Hyperlordosis, Scapular winging	OMIM:618129
Striatonigral Degeneration, Childhood-Onset	Lumbar hyperlordosis, Ankle clonus	OMIM:617054
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus	Carpal bone hypoplasia, Genu valgum, Ivory epiphyses of the toes, Barrel-shaped chest, Small epip...	OMIM:226980
Hyperekplexia 4	Kyphoscoliosis, Respiratory failure, Adducted thumb, Camptodactyly	OMIM:618011
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome	Abnormal rib morphology	ORPHA:2435
Acrocapitofemoral Dysplasia	Cone-shaped epiphyses of the phalanges of the hand, Pectus carinatum, Delayed ossification of car...	OMIM:607778
Mucopolysaccharidosis, Type Ivb	Genu valgum, Scoliosis, Hyperlordosis, Prominent sternum, Kyphosis, Hypoplasia of the capital fem...	OMIM:253010
Usmani-Riazuddin Syndrome, Autosomal Dominant	Short finger, Clinodactyly of the 5th finger, Pectus carinatum, 2-3 toe syndactyly, Thoracic kyph...	OMIM:619467
Three M Syndrome 3	Increased vertebral height, Clinodactyly of the 5th finger, Slender long bone, Short thorax, Hype...	OMIM:614205
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures	Scoliosis, Lumbar hyperlordosis, Kyphosis, Hip dislocation	OMIM:616756
Vacterl Association With Hydrocephalus	Stillbirth, Abnormal vertebral morphology, Radial club hand, Abnormality of the vertebral column,...	OMIM:276950
Hereditary Sensory And Autonomic Neuropathy Type 2	Abnormal hip bone morphology, Wormian bones, Hyperlordosis, Abnormality of the ankle, Abnormality...	ORPHA:970
Brachydactylous Dwarfism, Mseleni Type	Osteoarthritis of the elbow, Abnormality of the wrist, Hip osteoarthritis, Joint subluxation, Abn...	ORPHA:2619
Intermediate Nemaline Myopathy	Facial diplegia, Facial palsy, Multiple prenatal fractures, Flexion contracture, Respiratory fail...	ORPHA:171433
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia	Kyphoscoliosis, Delayed pubic bone ossification, Proximal placement of thumb, Pectus carinatum, H...	OMIM:613330
Second Metatarsal-Metacarpal Syndrome	Platyspondyly, Synostosis of carpals/tarsals, Abnormal metacarpal morphology	OMIM:269630
Diastrophic Dysplasia	Abnormal clavicle morphology, Short finger, Abnormal metaphysis morphology, Proximal placement of...	ORPHA:628
Three M Syndrome 2	Slender long bone, Short thorax, Pectus carinatum, Thin ribs, Hyperlordosis, Scapular winging, Sh...	OMIM:612921
Fetal Akinesia Deformation Sequence 4	11 pairs of ribs, Prenatal death, Kyphosis, Camptodactyly, Neonatal death, Short neck, Arthrogryp...	OMIM:618393
Autosomal Recessive Multiple Pterygium Syndrome	Popliteal pterygium, Axillary pterygium, Multiple pterygia, Spina bifida occulta, Pterygium, Fing...	ORPHA:2990
Osteogenesis Imperfecta, Type Ii	Bell-shaped thorax, Crumpled long bones, Respiratory insufficiency, Thin ribs, Tibial bowing, Wor...	OMIM:166210
Anauxetic Dysplasia 1	Limited elbow extension, Short finger, Barrel-shaped chest, Small epiphyses, Flared metaphysis, D...	OMIM:607095
Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes	Kyphoscoliosis, Lumbar scoliosis, Lower limb undergrowth, Irregular vertebral endplates, Brachyda...	OMIM:612847
Muscular Dystrophy, Congenital, 1B	Respiratory failure, Spinal rigidity, Achilles tendon contracture, Facial palsy	OMIM:604801
Short Stature And Advanced Bone Age, With Or Without Early-Onset Osteoarthritis And/Or Osteochondritis Dissecans	Osteochondritis dissecans, Hip osteoarthritis, Premature osteoarthritis, Broad hallux, Short thum...	OMIM:165800
Bruck Syndrome 1	Ankle flexion contracture, Pterygium, Vertebral wedging, Pectus carinatum, Scoliosis, Elbow flexi...	OMIM:259450
Pseudodiastrophic Dysplasia	Platyspondyly, Scoliosis, Elbow dislocation, Phalangeal dislocation	ORPHA:85174
Gorlin Syndrome	Abnormal vertebral morphology, Vertebral wedging, Scoliosis, Hemivertebrae, Abnormal rib morpholo...	ORPHA:377
Odontochondrodysplasia 1	Biconvex vertebral bodies, Cone-shaped epiphyses of the phalanges of the hand, Pectus carinatum, ...	OMIM:184260
Spondyloepimetaphyseal Dysplasia, Sponastrime Type	Kyphoscoliosis, Limited elbow extension, Genu valgum, Flat capital femoral epiphysis, Small epiph...	OMIM:271510
Pseudodiastrophic Dysplasia	Scoliosis, Camptodactyly, Hypoplasia of the odontoid process, Tongue-like lumbar vertebral deform...	OMIM:264180
Desbuquois Dysplasia 2	Pectus carinatum, Short long bone, Flat acetabular roof, Pectus excavatum, Short metacarpal, Knee...	OMIM:615777
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type	Short ribs, Short long bone, Flat acetabular roof, Dumbbell-shaped long bone, Hypoplastic ischia,...	OMIM:151210
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy	Kyphoscoliosis, Flared iliac wing, Flattened epiphysis, Short finger, Small epiphyses, Anterior r...	OMIM:300232
Spondyloepimetaphyseal Dysplasia, Aggrecan Type	Short finger, Irregular epiphyses, Barrel-shaped chest, Broad thumb, Metaphyseal widening, Brachy...	OMIM:612813
Congenital Myopathy 4A, Autosomal Dominant	Respiratory insufficiency, Scoliosis, Facial palsy, Congenital hip dislocation, Respiratory insuf...	OMIM:255310
Myasthenic Syndrome, Congenital, 14	Scoliosis, Hyperlordosis, Scapular winging, Knee flexion contracture	OMIM:616228
Pontocerebellar Hypoplasia, Type 1C	Respiratory insufficiency, Respiratory failure, Joint contracture, Death in childhood	OMIM:616081
Deafness-Epiphyseal Dysplasia-Short Stature Syndrome	Abnormal femoral epiphysis morphology, Abnormal form of the vertebral bodies, Short thorax, Hyper...	ORPHA:3218
Osteogenesis Imperfecta, Type Xxi	Barrel-shaped chest, Bell-shaped thorax, Scoliosis, Wormian bones, Pectus excavatum, Bowing of th...	OMIM:619131
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1	Facial palsy, Scapular winging, Abnormal pelvic girdle bone morphology, Back pain, Lumbar hyperlo...	OMIM:167320
Spondyloepiphyseal Dysplasia Congenita	Limited elbow movement, Delayed pubic bone ossification, Barrel-shaped chest, Delayed calcaneal o...	OMIM:183900
Odontochondrodysplasia	Abnormal metaphysis morphology, Square pelvis bone, Narrow chest, Scoliosis, Bowing of the long b...	ORPHA:166272
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type	Kyphoscoliosis, Multiple joint dislocation, Kyphosis, Neonatal inspiratory stridor, Slender metac...	ORPHA:93360
Rhizomelic Dysplasia, Patterson-Lowry Type	Genu valgum, Abnormal form of the vertebral bodies, Hyperlordosis, Deformed humeral heads, Short ...	ORPHA:2831
Myasthenic Syndrome, Congenital, 25, Presynaptic	Spinal rigidity, Decreased compound muscle action potential amplitude, Scoliosis, Kyphosis, Flexi...	OMIM:618323
Bethlem Myopathy 2	Distal joint hypermobility, Scoliosis, Scapular winging, Kyphosis, Flexion contracture, Hip dislo...	OMIM:616471
Achondroplasia	Narrow greater sciatic notch, Cervical spinal canal stenosis, Short proximal phalanx of finger, L...	ORPHA:15
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome	Clinodactyly of the 5th finger, Abnormal hip bone morphology, Pectus carinatum, Hyperlordosis, Fa...	ORPHA:3068
Proximal 16P11.2 Microdeletion Syndrome	Abnormal vertebral morphology, Scoliosis, Hand polydactyly, Rib fusion, Craniosynostosis	ORPHA:261197
Fibrochondrogenesis 1	Narrow greater sciatic notch, Short ribs, Short long bone, Dumbbell-shaped long bone, Hypoplastic...	OMIM:228520
Mucolipidosis Iii Gamma	Genu valgum, Flat capital femoral epiphysis, Claw hand deformity, Shoulder contracture, Pectus ca...	OMIM:252605
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly	Lateral clavicle hook, Narrow chest, Short ribs, Postaxial hand polydactyly, Acetabular spurs, De...	OMIM:617405
Spondyloepiphyseal Dysplasia Congenita	Limited elbow movement, Spinal rigidity, Genu valgum, Barrel-shaped chest, Small epiphyses, Upper...	ORPHA:94068
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome	Kyphoscoliosis, Rocker bottom foot, Abnormal hip bone morphology, Abnormal sternum morphology, Hy...	ORPHA:457395
Kuskokwim Syndrome	Abnormal clavicle morphology, Abnormal form of the vertebral bodies, Aplasia/Hypoplasia of the pa...	ORPHA:1149
Parastremmatic Dwarfism	Genu valgum, Scoliosis, Kyphosis, Flexion contracture, Short neck	OMIM:168400
Alagille Syndrome	Hypoplasia of the ulna, Clinodactyly of the 5th finger, Spina bifida occulta, Butterfly vertebral...	ORPHA:52
Acromesomelic Dysplasia 4	Sandal gap, Short metacarpal, Metaphyseal irregularity, Prominent deltoid tuberosities, Thoracic ...	OMIM:619636
Spondyloperipheral Dysplasia-Short Ulna Syndrome	Hypoplasia of the ulna, Limited elbow extension, Type E brachydactyly, Delayed pubic bone ossific...	ORPHA:1856
Kbg Syndrome	Radial deviation of finger, Clinodactyly of the 5th finger, Thoracic kyphosis, Rib fusion, Ulnar ...	OMIM:148050
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5	Scoliosis, Hyperlordosis, Facial palsy, Kyphosis, Achilles tendon contracture, Respiratory failur...	OMIM:606612
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly	Flared metaphysis, Short middle phalanx of the 5th finger, Multiple small vertebral fractures, Os...	OMIM:156510
Fibrodysplasia Ossificans Progressiva	Abnormality of the first metatarsal bone, Clinodactyly of the 5th finger, Short 1st metacarpal, S...	OMIM:135100
Amyotrophic Lateral Sclerosis 27, Juvenile	Respiratory insufficiency, Scoliosis, Hyperlordosis, Scapular winging	OMIM:620285
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	11 pairs of ribs, Metaphyseal cupping, Hypoplastic iliac wing, Thin ribs, Hypoplasia of the calca...	OMIM:300863
Steel Syndrome	Limited elbow extension, Clinodactyly of the 5th finger, Dislocated radial head, Scoliosis, Coxa ...	OMIM:615155
Spondyloepiphyseal Dysplasia, Maroteaux Type	Kyphoscoliosis, Genu valgum, Pectus carinatum, Shield chest, Atlantoaxial instability, Short palm...	OMIM:184095
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2	Respiratory insufficiency, Scoliosis, Hyperlordosis, Facial palsy, Hip dislocation	OMIM:613156
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome	Respiratory failure, Scoliosis, Respiratory insufficiency due to muscle weakness	ORPHA:2590
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2	Kyphoscoliosis, Abnormal vertebral morphology, Increased vertebral height, Hyperlordosis, Pectus ...	OMIM:616817
Dna2-Related Mitochondrial Dna Deletion Syndrome	Hyperlordosis	ORPHA:352470
Becker Nevus Syndrome	Scoliosis, Hemivertebrae, Pectus excavatum, Cervical ribs	OMIM:604919
Juberg-Hayward Syndrome	Hypoplasia of the radius, Abnormal vertebral morphology, Abnormality of the wrist, Abnormal metac...	ORPHA:2319
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations	Kyphoscoliosis, Multiple carpal ossification centers, Dislocated radial head, Tibial bowing, Knee...	OMIM:143095
Wieacker-Wolff Syndrome	Proximal placement of thumb, Narrow chest, Scoliosis, Hyperlordosis, Facial palsy, Kyphosis, Camp...	OMIM:314580
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2	Short neck, Vertebral segmentation defect, Abnormal rib morphology	ORPHA:2578
Progressive Pseudorheumatoid Dysplasia	Kyphoscoliosis, Platyspondyly, Sclerotic vertebral endplates, Enlarged metacarpophalangeal joints...	OMIM:208230
Otospondylomegaepiphyseal Dysplasia	Sandal gap, Tibial bowing, Abnormally ossified vertebrae, Short metacarpal, Dumbbell-shaped femur...	ORPHA:1427
Spastic Paraplegia 18B, Autosomal Recessive	Scoliosis, Joint contracture, Kyphosis, Ankle clonus	OMIM:611225
Microcephalic Osteodysplastic Dysplasia, Saul-Wilson Type	Cone-shaped epiphyses of the phalanges of the hand, Irregularity of vertebral bodies, Short palm,...	ORPHA:85172
Ck Syndrome	Abnormal digit morphology, Scoliosis, Hyperlordosis, Kyphosis	OMIM:300831
Nemaline Myopathy 2	Spinal rigidity, Scoliosis, Hyperlordosis, Respiratory insufficiency due to muscle weakness, Abno...	OMIM:256030
Myopathy, Distal, 1	Scoliosis, Facial palsy, Lumbar hyperlordosis	OMIM:160500
Microcephaly With Cervical Spine Fusion Anomalies	Spinal instability, Vertebral fusion	OMIM:251250
Hereditary Motor And Sensory Neuropathy, Type Iic	Decreased distal sensory nerve action potential, Hammertoe, Scoliosis, Respiratory failure, Inter...	OMIM:606071
Lethal Osteosclerotic Bone Dysplasia	Respiratory failure, Short neck, Delayed cranial suture closure	ORPHA:1832
Spinal Muscular Atrophy, Type I	Respiratory insufficiency, Respiratory failure, Death in childhood	OMIM:253300
Pelvis-Shoulder Dysplasia	Aplasia/hypoplasia of the femur, Long clavicles, Prominent protruding coccyx, Bell-shaped thorax,...	ORPHA:2839
Autosomal Recessive Centronuclear Myopathy	Respiratory insufficiency, Facial diplegia, Facial palsy, Hyperlordosis, Scapular winging, Long f...	ORPHA:169186
Intellectual Developmental Disorder, Autosomal Dominant 23	Broad distal phalanx of finger, Sacral dimple, Sandal gap, Scoliosis, Hyperlordosis, Kyphosis, Po...	OMIM:615761
Arthrogryposis, Distal, Type 3	Kyphoscoliosis, Scoliosis, Pectus excavatum, Congenital hip dislocation, Camptodactyly of toe, Th...	OMIM:114300
Brachyolmia Type 2	Platyspondyly	OMIM:613678
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Y	Decreased nerve conduction velocity, Hammertoe, Scapular winging, Limited knee flexion, Lumbar hy...	ORPHA:435387
Schwartz-Jampel Syndrome, Type 1	Kyphoscoliosis, Flexion contracture of toe, Pectus carinatum, Wrist flexion contracture, Anterior...	OMIM:255800
Craniodiaphyseal Dysplasia	Optic atrophy, Abnormal rib morphology	ORPHA:1513
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome	Abnormal form of the vertebral bodies, Hemivertebrae, Abnormal rib morphology, Abnormality of the...	ORPHA:2234
Holt-Oram Syndrome	Abnormal clavicle morphology, Triphalangeal thumb, Abnormal metacarpal morphology, Finger syndact...	ORPHA:392
Jeune Syndrome	Abnormal clavicle morphology, Abnormal metaphysis morphology, Narrow chest, Short thorax, Abnorma...	ORPHA:474
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Hypoplastic iliac wing, Thin ribs, Abnormality of the calcaneus, Death in infancy, Metaphyseal cu...	ORPHA:163966
Spondyloperipheral Dysplasia	Cone-shaped epiphyses of the phalanges of the hand, Pectus carinatum, Flat acetabular roof, Absen...	OMIM:271700
Hereditary Motor And Sensory Neuropathy, Okinawa Type	Respiratory failure requiring assisted ventilation, Respiratory failure, Abnormal seventh cranial...	ORPHA:90117
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	Death in childhood, Bell-shaped thorax, Narrow chest, Wide distal femoral metaphysis, Metaphyseal...	OMIM:613320
Fibrodysplasia Ossificans Progressiva	Abnormality of the first metatarsal bone, Spinal rigidity, Abnormal vertebral morphology, Clinoda...	ORPHA:337
Mitochondrial Dna Depletion Syndrome, Myopathic Form	Respiratory insufficiency, Scoliosis, Ventilator dependence with inability to wean, Respiratory i...	ORPHA:254875
Myasthenic Syndrome, Congenital, 16	Hyperlordosis	OMIM:614198
Lethal Kniest-Like Dysplasia	Abnormal ischium morphology, Narrow chest, Flared metaphysis, Wide anterior fontanel, Short ribs,...	ORPHA:2347
Laryngotracheoesophageal Cleft Type 4	Respiratory insufficiency, Abnormal rib morphology, Abnormal form of the vertebral bodies	ORPHA:93941
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A	Cervical spinal canal stenosis, Popliteal pterygium, Tarsal synostosis, Spondylolisthesis, Barrel...	OMIM:178110
Aicardi Syndrome	Optic atrophy, Butterfly vertebrae, Scoliosis, Missing ribs, Rib fusion, Supernumerary ribs, Bloc...	ORPHA:50
Craniodiaphyseal Dysplasia, Autosomal Dominant	Optic atrophy, Diaphyseal sclerosis, Facial diplegia, Cortical sclerosis, Death in adolescence, P...	OMIM:122860
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant	Femur fracture, Adducted thumb, Sacral dimple, Spina bifida occulta, Scoliosis, Kyphosis, Congeni...	OMIM:618291
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 4	Hyperlordosis, Pectus excavatum	OMIM:611588
Chondrodysplasia, Blomstrand Type	Stillbirth, Abnormal vertebral morphology, Narrow chest, Flared metaphysis, Short ribs, Advanced ...	OMIM:215045
Microphthalmia, Syndromic 3	Butterfly vertebrae, Optic nerve hypoplasia, Hemivertebrae, Vertebral hypoplasia, Missing ribs, S...	OMIM:206900
Cartilage-Hair Hypoplasia	Biconvex vertebral bodies, Abnormal hip bone morphology, Abnormal form of the vertebral bodies, P...	ORPHA:175
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive	Flattened metacarpal heads, Hip osteoarthritis, Flattened metatarsal heads, Osteoarthritis, Platy...	OMIM:271600
Klippel-Feil Syndrome 3, Autosomal Dominant	Cervical C3/C4 vertebral fusion, Cervical C5/C6 vertebrae fusion, Thoracic scoliosis	OMIM:613702
Ophthalmoplegia, External, With Rib And Vertebral Anomalies	Pectus carinatum, Scoliosis, Short ribs, Pectus excavatum, Missing ribs, Pseudoarthrosis	OMIM:618155
Fibrosis Of Extraocular Muscles, Congenital, 3C	Pectus excavatum, Kyphosis	OMIM:609384
Anauxetic Dysplasia 3	Beaking of vertebral bodies, Hip subluxation, Genu valgum, Narrow chest, Broad middle phalanx of ...	OMIM:618853
Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant	Platyspondyly, Epiphyseal dysplasia, Enlarged epiphyses, Premature osteoarthritis	OMIM:184840
Krabbe Disease, Atypical, Due To Saposin A Deficiency	Respiratory insufficiency, Respiratory failure, Death in infancy	OMIM:611722
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly	Lateral clavicle hook, Hypoplasia of the radius, Narrow chest, Short ribs, Hypoplastic ilia, Post...	OMIM:617895
Morquio Syndrome C	Platyspondyly	OMIM:252300
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita	Bell-shaped thorax, Respiratory insufficiency, Scoliosis, Kyphosis, Flexion contracture, Short ne...	ORPHA:178148
Kbg Syndrome	Scoliosis, Thoracic kyphosis, Persistent open anterior fontanelle, Delayed skeletal maturation, C...	ORPHA:2332
Neuropathy, Congenital, With Arthrogryposis Multiplex	Hyperlordosis, Calcaneovalgus deformity	OMIM:162370
Congenital Myopathy 14	Elbow flexion contracture, Death in infancy, Hip contracture, Respiratory insufficiency due to mu...	OMIM:618414
Osteomesopyknosis	Scoliosis, Sclerotic vertebral body, Kyphosis, Abnormal form of the vertebral bodies	ORPHA:2777
Mulchandani-Bhoj-Conlin Syndrome	Scoliosis, Hyperlordosis, Clinodactyly, 2-3 toe syndactyly	OMIM:617352
Fibrochondrogenesis	Abnormal metaphysis morphology, Abnormal diaphysis morphology, Bell-shaped thorax, Narrow chest, ...	ORPHA:2021
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 9	Ankle flexion contracture, Lumbar hyperlordosis	OMIM:613818
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A	Respiratory insufficiency, Respiratory failure, Limited knee flexion/extension, Limited elbow fle...	ORPHA:266
Melnick-Needles Syndrome	Abnormal metaphysis morphology, Osteolytic defects of the phalanges of the hand, Narrow chest, Co...	ORPHA:2484
Spondyloepimetaphyseal Dysplasia, X-Linked	Cone-shaped epiphyses of the phalanges of the hand, Pectus carinatum, Delayed ossification of car...	OMIM:300106
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type	Biconvex vertebral bodies, Pectus carinatum, Hypoplastic iliac wing, Tibial bowing, Short long bo...	ORPHA:93315
Klippel-Feil Syndrome 1, Autosomal Dominant	Cervical C2/C3 vertebral fusion, Scoliosis, Abnormal rib morphology, Sprengel anomaly, Short neck...	OMIM:118100
Klippel-Feil Syndrome 2, Autosomal Recessive	Fused cervical vertebrae, Cervical C2/C3 vertebral fusion, Scoliosis, Sprengel anomaly, Short neck	OMIM:214300
Lethal Congenital Contracture Syndrome Type 1	Abnormal hip bone morphology, Slender long bone, Abnormal form of the vertebral bodies, Abnormal ...	ORPHA:1486
Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome	Sacral dimple, Posterior fusion of lumbosacral vertebrae, Tarsal synostosis, Abnormal form of the...	ORPHA:2064
Postsynaptic Congenital Myasthenic Syndromes	Respiratory failure, Scoliosis, Thoracic kyphoscoliosis, Facial palsy	ORPHA:98913
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome	Abnormality of cranial sutures, Abnormal femoral neck/head morphology, Narrow chest, Abnormality ...	ORPHA:163649
Ck Syndrome	Kyphoscoliosis, Long fingers, Long toe, Lumbar hyperlordosis	ORPHA:251383
Radio-Renal Syndrome	Hypoplasia of the radius, Abnormal form of the vertebral bodies, Abnormal rib morphology, Short n...	ORPHA:3015
Robinow Syndrome, Autosomal Recessive 1	Hypoplastic sacrum, Radial deviation of finger, Dislocated radial head, Pectus excavatum, Broad t...	OMIM:268310
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1	Beaking of vertebral bodies, Sacral dimple, Bifid ribs, Narrow chest, Craniosynostosis, Hyperexte...	OMIM:213980
X-Linked Emery-Dreifuss Muscular Dystrophy	Spinal rigidity, Scoliosis, Hyperlordosis, Scapular winging, Pectus excavatum, Kyphosis, Elbow fl...	ORPHA:98863
Dysosteosclerosis	Optic atrophy, Diaphyseal undertubulation, Clavicular sclerosis, Abnormal metaphyseal trabeculati...	OMIM:224300
Combined Oxidative Phosphorylation Deficiency 51	Optic atrophy, Respiratory failure, Neonatal respiratory distress	OMIM:619057
Spondyloepimetaphyseal Dysplasia, Aggrecan Type	Barrel-shaped chest, Broad thumb, Brachydactyly, Short neck, Lumbar hyperlordosis	ORPHA:171866
Spondylometaphyseal Dysplasia, Schmidt Type	Kyphoscoliosis, Narrow greater sciatic notch, Short iliac bones, Abnormal metaphysis morphology, ...	ORPHA:93316
Horizontal Gaze Palsy With Progressive Scoliosis	Short neck, Scoliosis, Kyphosis	ORPHA:2744
Severe Congenital Nemaline Myopathy	Thin ribs, Facial diplegia, Facial palsy, Multiple prenatal fractures, Flexion contracture, Respi...	ORPHA:171430
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 1	Spinal rigidity, Lumbar hyperlordosis	OMIM:609308
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive	Beaking of vertebral bodies, Large tarsal bones, Flared metaphysis, Short long bone, Aplasia/Hypo...	OMIM:215150
Autosomal Recessive Robinow Syndrome	Abnormal hip bone morphology, Sandal gap, Pectus carinatum, Pectus excavatum, Kyphosis, Death in ...	ORPHA:1507
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome	Sandal gap, Abnormal form of the vertebral bodies, Scoliosis, Hemivertebrae, Abnormal rib morphol...	ORPHA:2180
Myopathy, Centronuclear, 6, With Fiber-Type Disproportion	Ankle flexion contracture, Scoliosis, Hyperlordosis	OMIM:617760
Congenital Myasthenic Syndromes With Glycosylation Defect	Scoliosis, Facial palsy, Scapular winging, Knee flexion contracture, Lumbar hyperlordosis	ORPHA:353327
Spondylometaphyseal Dysplasia, Pagnamenta Type	Short 4th metacarpal, Wormian bones, Thoracic kyphosis, Femoral bowing, Broad thumb, Platyspondyl...	OMIM:619638
Osteogenesis Imperfecta, Type V	Anterior radial head dislocation, Vertebral wedging, Hyperextensibility of the finger joints, Wor...	OMIM:610967
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly	Lateral clavicle hook, Bell-shaped thorax, Narrow chest, Respiratory insufficiency, Short long bo...	OMIM:615633
Myopathy, Centronuclear, 1	Hyperlordosis, Facial palsy	OMIM:160150
Thanatophoric Dysplasia	Abnormal metaphysis morphology, Abnormal ilium morphology, Narrow chest, Short thorax, Respirator...	ORPHA:2655
Aicardi Syndrome	Optic atrophy, Butterfly vertebrae, Proximal placement of thumb, Scoliosis, Hemivertebrae, Missin...	OMIM:304050
Myotonia With Skeletal Abnormalities And Mental Retardation	Kyphoscoliosis, Genu valgum, Bell-shaped thorax, Vertebral wedging, Pectus carinatum, Irregular f...	OMIM:255710
Platyspondylic Dysplasia, Torrance Type	Abnormal carpal morphology, Narrow chest, Short thorax, Metaphyseal cupping, Bowing of the long b...	ORPHA:85166
Garg-Mishra Progeroid Syndrome	Narrow chest, Slender long bone, Thin ribs, Persistent open anterior fontanelle, Ovoid vertebral ...	OMIM:620601
Vertebral Fusion, Posterior Lumbosacral, With Blepharoptosis	Posterior fusion of lumbosacral vertebrae	OMIM:192800
Dysostosis, Stanescu Type	Abnormal metaphysis morphology, Scoliosis, Hyperlordosis, Wormian bones, Pectus excavatum, Kyphos...	ORPHA:1798
Trichorhinophalangeal Syndrome Type 1	Clinodactyly of the 5th finger, Short metatarsal, Pectus carinatum, Scoliosis, Hyperlordosis, Sho...	ORPHA:77258
Spondylometaphyseal Dysplasia, Sedaghatian Type	Narrow chest, Respiratory insufficiency, Short metacarpal, Abnormal rib morphology, Iliac crest s...	ORPHA:93317
Multiple Pterygium Syndrome, X-Linked	Multiple pterygia, Joint dislocation, Thin ribs, Abnormal cervical curvature, Flexion contracture...	OMIM:312150
Emery-Dreifuss Muscular Dystrophy	Spinal rigidity, Scoliosis, Hyperlordosis, Scapular winging, Pectus excavatum, Kyphosis, Elbow fl...	ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy	Spinal rigidity, Scoliosis, Hyperlordosis, Scapular winging, Pectus excavatum, Kyphosis, Elbow fl...	ORPHA:98853
Achondrogenesis, Type Ib	Absent or minimally ossified vertebral bodies, Stillbirth, Narrow chest, Respiratory insufficienc...	OMIM:600972
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 17	Lumbar hyperlordosis	OMIM:613723
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities	Narrow greater sciatic notch, Hypoplasia of the ulna, Flared metaphysis, Dislocated radial head, ...	OMIM:602471
Cataract-Intellectual Disability-Hypogonadism Syndrome	Abnormal distal phalanx morphology of finger, Scoliosis, Hyperlordosis, Ulnar deviation of finger	ORPHA:1387
Pde4D Haploinsufficiency Syndrome	Caudal interpedicular narrowing, Short metatarsal, Upper limb undergrowth, Bilateral coxa valga, ...	ORPHA:439822
Pallister-Hall Syndrome	Short 4th metacarpal, Preaxial polydactyly, Y-shaped metatarsals, Hemivertebrae, Oligodactyly, Po...	OMIM:146510
Kniest Dysplasia	Flared metaphysis, Splayed epiphyses, Delayed epiphyseal ossification, Tibial bowing, Pectus exca...	OMIM:156550
Oculoskeletodental Syndrome	Scoliosis, Hyperlordosis, Thoracic kyphosis, Hypoplasia of the capital femoral epiphysis, Metaphy...	ORPHA:557003
Rhizomelic Dysplasia, Ain-Naz Type	Wide distal femoral metaphysis, Hypoplasia of the femoral head, Short humerus, Short femoral neck...	OMIM:619598
Osteopathia Striata-Cranial Sclerosis Syndrome	Abnormal metaphysis morphology, Spina bifida occulta, Asymmetry of the thorax, Scoliosis, Hyperlo...	ORPHA:2780
Satoyoshi Syndrome	Abnormal metaphysis morphology, Abnormal femur morphology, Abnormality of the wrist, Abnormal hip...	ORPHA:3130
Camptodactyly-Joint Contractures-Facial Skeletal Defects Syndrome	Abnormal hip bone morphology, Finger syndactyly, Scoliosis, Hyperlordosis, Vertebral segmentation...	ORPHA:1323
Mucolipidosis Ii Alpha/Beta	Short long bone, Flat acetabular roof, Pectus excavatum, Flared iliac wing, Bullet-shaped phalang...	OMIM:252500
Glycine Encephalopathy 2	Respiratory failure	OMIM:620398
White Forelock With Malformations	Clinodactyly of the 5th finger, Spina bifida occulta, Finger syndactyly, Abnormal rib morphology,...	ORPHA:2475
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy	Spinal rigidity, Scoliosis, Hyperlordosis, Scapular winging, Pectus excavatum, Kyphosis, Elbow fl...	ORPHA:98855
Acrodysostosis 1 With Or Without Hormone Resistance	Optic atrophy, Short metatarsal, Cone-shaped epiphyses of the phalanges of the hand, Dislocated r...	OMIM:101800
Cog1-Cdg	Kyphoscoliosis, Butterfly vertebrae, Vertebral segmentation defect, Posterior rib gap, Short long...	ORPHA:263508
Hypophosphatasia, Infantile	Stillbirth, Unossified vertebral bodies, Metaphyseal cupping, Short ribs, Vertebral clefting, Dea...	OMIM:241500
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome	Kyphoscoliosis, Patellar hypoplasia, Hyperextensibility of the finger joints, 2-3 toe syndactyly,...	ORPHA:3041
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers	Pectus carinatum, Scoliosis, Pectus excavatum, Kyphosis	ORPHA:276630
Cooper-Jabs Syndrome	Abnormal hip bone morphology, Proximal placement of thumb, Respiratory insufficiency, Scoliosis, ...	ORPHA:1488
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods	Respiratory insufficiency, Fusion of midcervical facet joints, Widening of cervical spinal canal,...	OMIM:606842
Gm1-Gangliosidosis, Type Iii	Anterior beaking of lumbar vertebrae, Hypoplastic acetabulae, Scoliosis, Kyphosis, Flared iliac w...	OMIM:230650
Cole-Carpenter Syndrome 2	Lambdoidal craniosynostosis, Narrow iliac wing, Thin ribs, Wormian bones, Pectus excavatum, Kypho...	OMIM:616294
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome	Abnormal thumb morphology, Triphalangeal thumb, Proximal placement of thumb, Respiratory insuffic...	ORPHA:1120
Septopreoptic Holoprosencephaly	Abnormal vertebral morphology, Abnormal rib morphology	ORPHA:280195
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans	Narrow chest, Wide anterior fontanel, Femoral bowing, Tibial bowing, Kyphosis, Neonatal death, Pl...	OMIM:616482
Mosaic Trisomy 14	Camptodactyly of finger, Short neck, Narrow chest, Abnormal rib morphology	ORPHA:1703
Bruck Syndrome	Pterygium, Respiratory insufficiency, Scoliosis, Wormian bones, Bowing of the long bones, Kyphosi...	ORPHA:2771
Pontocerebellar Hypoplasia, Type 4	Respiratory failure, Congenital contracture, Death in infancy	OMIM:225753
Microphthalmia, Lenz Type	Abnormal clavicle morphology, Abnormal shoulder morphology, Clinodactyly of the 5th finger, Finge...	ORPHA:568
X-Linked Charcot-Marie-Tooth Disease Type 1	Scoliosis, Abnormal nerve conduction velocity, Kyphosis	ORPHA:101075
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome	Brachydactyly, Hyperlordosis, Short toe, Kyphosis	ORPHA:3085
Mitochondrial Complex I Deficiency, Nuclear Type 18	Respiratory failure, Wide anterior fontanel, Optic disc pallor, Death in infancy	OMIM:618240
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Narrow greater sciatic notch, Flared metaphysis, Scoliosis, Short long bone, Metaphyseal spurs, C...	ORPHA:85167
Spondyloepiphyseal Dysplasia, Kondo-Fu Type	Pectus carinatum, Delayed ossification of carpal bones, Reduced bone mineral density, Kyphosis	OMIM:618392
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome	Spinal rigidity, Kyphosis, Respiratory insufficiency due to muscle weakness, Respiratory failure,...	ORPHA:352447
Wolf-Hirschhorn Syndrome	Optic atrophy, Sacral dimple, Abnormal vertebral morphology, Hypoplastic pubic ramus, Abnormal fo...	ORPHA:280
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome	Pectus carinatum, Scoliosis, Kyphosis, Joint stiffness, Delayed skeletal maturation	ORPHA:1548
Hall-Riggs Syndrome	Scoliosis, Kyphosis, Metaphyseal dysplasia, Brachydactyly, Irregular vertebral endplates, Platysp...	OMIM:234250
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome	Platyspondyly, Kyphosis	ORPHA:2786
Multiple Pterygium Syndrome, Lethal Type	Multiple pterygia, Joint dislocation, Thin ribs, Abnormal cervical curvature, Flexion contracture...	OMIM:253290
Chst3-Related Skeletal Dysplasia	Kyphoscoliosis, Genu valgum, Irregular epiphyses, Barrel-shaped chest, Intervertebral space narro...	ORPHA:263463
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome	Aplasia/Hypoplasia of fingers, Clinodactyly of the 5th finger, Pectus carinatum, Postaxial hand p...	ORPHA:3082
Myopathy, Myofibrillar, 7	Spinal rigidity, Shoulder flexion contracture, Scoliosis, Thoracic kyphosis, Facial palsy, Elbow ...	OMIM:617114
Kniest Dysplasia	Enlarged metaphyses, Short long bone, Dumbbell-shaped long bone, Dumbbell-shaped femur, Flexion c...	ORPHA:485
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities	Kyphoscoliosis, Narrow greater sciatic notch, Platyspondyly, Dislocated radial head, Cervical ins...	OMIM:617425
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech	Anterior scalloping of vertebral bodies, Hypoplastic iliac wing, Short long bone, Pectus excavatu...	OMIM:611717
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy	Narrow greater sciatic notch, Metaphyseal irregularity, Short finger, Flared metaphysis, Metaphys...	OMIM:608940
King-Denborough Syndrome	Kyphoscoliosis, Scoliosis, Thoracic kyphosis, Short neck, Lumbar hyperlordosis	OMIM:619542
Sillence Syndrome	Flat acetabular roof, Large iliac wing, Broad metatarsal, Broad thumb, Abnormal morphology of the...	ORPHA:3168
Czech Dysplasia	Intervertebral space narrowing, Flat capital femoral epiphysis, Short metatarsal, Scoliosis, Thor...	OMIM:609162
Multiple Synostoses Syndrome 2	Finger symphalangism, Tarsal synostosis, Proximal symphalangism, Humeroradial synostosis, Carpal ...	OMIM:610017
Rhizomelic Dysplasia, Patterson-Lowry Type	Short metatarsal, Short metacarpal, Deformed humeral heads, Coxa vara, Short humerus, Brachydacty...	OMIM:601438
Hoxha-Aliu Syndrome	Contracture of the proximal interphalangeal joint of the 4th finger, Absent fifth metatarsal, Pec...	OMIM:620662
Opsismodysplasia	Posterior rib cupping, Bell-shaped thorax, Narrow chest, Respiratory insufficiency, Metaphyseal c...	OMIM:258480
Mitochondrial Complex I Deficiency, Nuclear Type 15	Optic atrophy, Neonatal death, Flexion contracture, Kyphosis	OMIM:618237
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5	Scoliosis, Scapular winging, Lumbar hyperlordosis	ORPHA:353
Alg1-Cdg	Respiratory failure, Scoliosis, Kyphosis	ORPHA:79327
Osteogenesis Imperfecta, Type Xvi	Narrow chest, Vertebral compression fracture, Angulated humerus, Wormian bones, Short long bone, ...	OMIM:616229
Spondylocarpotarsal Synostosis Syndrome	Pectus carinatum, Hyperlordosis, Short metacarpal, Tarsal synostosis, Bowed humerus, Scoliosis, B...	OMIM:272460
Nail-Patella Syndrome	Thickening of the lateral border of the scapula, Limited elbow extension, Clinodactyly of the 5th...	OMIM:161200
Wildervanck Syndrome	Fused cervical vertebrae, Pseudopapilledema	OMIM:314600
Geroderma Osteodysplastica	Beaking of vertebral bodies, Vertebral compression fracture, Abnormal form of the vertebral bodie...	ORPHA:2078
Osteogenesis Imperfecta, Type X	Genu valgum, Fibular bowing, Death in childhood, Vertebral compression fracture, Narrow chest, Sc...	OMIM:613848
Stickler Syndrome, Type Iv	Genu valgum, Intervertebral space narrowing, Flat capital femoral epiphysis, Hypoplastic iliac wi...	OMIM:614134
Osteogenesis Imperfecta, Type Viii	Barrel-shaped chest, Vertebral compression fracture, Slender long bone, Femoral retroversion, Wid...	OMIM:610915
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia	Cervical spinal canal stenosis, Genu valgum, Flared metaphysis, Short thorax, Delayed epiphyseal ...	OMIM:616007
Short-Rib Thoracic Dysplasia 18 With Polydactyly	Preaxial polydactyly, Ulnar bowing, Vertebral wedging, 2-3 toe syndactyly, Short ribs, Missing ri...	OMIM:617866
Cap Myopathy	Facial palsy, Pectus excavatum, Lumbar hyperlordosis, Thoracic scoliosis	ORPHA:171881
Ring Chromosome 21 Syndrome	Scoliosis, Thoracic hemivertebrae, Abnormal thorax morphology, Fused thoracic vertebrae	ORPHA:1445
Infantile-Onset X-Linked Spinal Muscular Atrophy	Kyphoscoliosis, Ankle flexion contracture, Respiratory insufficiency, Short ribs, Elbow flexion c...	ORPHA:1145
Hereditary Butyrylcholinesterase Deficiency	Respiratory failure requiring assisted ventilation, Respiratory failure	ORPHA:132
Brachydactyly, Type B1	Joint contracture of the hand, Hypoplastic sacrum, Wide anterior fontanel, Delayed cranial suture...	OMIM:113000
Achondrogenesis, Type Ii	Short tubular bones of the hand, Stillbirth, Barrel-shaped chest, Hypoplastic iliac wing, Short r...	OMIM:200610
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related	Respiratory insufficiency, Respiratory failure, Death in infancy	OMIM:613869
Cole-Carpenter Syndrome	Abnormal metaphysis morphology, Crumpled long bones, Abnormal form of the vertebral bodies, Scoli...	ORPHA:2050
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome	Sacral dimple, Tapered toe, Clinodactyly of the 5th finger, Rib fusion, Tapered finger	ORPHA:544488
Brachytelephalangic Chondrodysplasia Punctata	Optic nerve hypoplasia, Short distal phalanx of toe, Short distal phalanx of finger, Butterfly ve...	ORPHA:79345
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type	Abnormal vertebral morphology, Small epiphyses, Flared metaphysis, Hypoplastic pubic bone, Cervic...	ORPHA:93346
Bruck Syndrome 2	Pterygium, Pectus carinatum, Wormian bones, Femoral bowing, Elbow flexion contracture, Knee flexi...	OMIM:609220
Thanatophoric Dysplasia Type 2	Abnormal metaphysis morphology, Narrow chest, Respiratory insufficiency, Short thorax, Kyphosis, ...	ORPHA:93274
Femoral-Facial Syndrome	Aplasia/hypoplasia of the femur, Limited elbow movement, Short humerus, Absent vertebra, Syndacty...	OMIM:134780
Intellectual Disability And Myopathy Syndrome	Limited elbow extension, Scoliosis, Lumbar hyperlordosis, Congenital hip dislocation	OMIM:619719
Intellectual Developmental Disorder With Muscle Tone Abnormalities And Distal Skeletal Defects	Pectus carinatum, Kyphosis	OMIM:620007
Winchester Syndrome	Carpal osteolysis, Arthropathy, Kyphosis, Generalized osteoporosis, Osteolysis involving tarsal b...	OMIM:277950
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B	Tarsal synostosis, Fused cervical vertebrae, Scoliosis, Antecubital pterygium, Flexion contractur...	OMIM:618469
Proximal Spinal Muscular Atrophy	Multiple joint contractures, Scoliosis, Thoracic kyphosis, Facial diplegia, Elbow flexion contrac...	ORPHA:70
X-Linked Charcot-Marie-Tooth Disease Type 4	Scoliosis, Decreased nerve conduction velocity, Kyphosis	ORPHA:101078
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy	Optic atrophy, Respiratory failure, Scoliosis, Tapered finger	OMIM:616505
Cantu Syndrome	Narrow chest, Short hallux, Hypoplastic ischiopubic ramus, Ovoid vertebral bodies, Erlenmeyer fla...	OMIM:239850
Slc39A13-Related Spondylodysplastic Ehlers-Danlos Syndrome	Abnormal metaphysis morphology, Flat capital femoral epiphysis, Broad femoral neck, Flattened epi...	ORPHA:157965
Developmental And Epileptic Encephalopathy 71	Respiratory insufficiency, Respiratory failure	OMIM:618328
Thanatophoric Dysplasia Type 1	Abnormal metaphysis morphology, Narrow chest, Short greater sciatic notch, Respiratory insufficie...	ORPHA:1860
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type	Pectus carinatum, Triangular shaped distal phalanges of the hand, Short ribs, Short long bone, Pe...	OMIM:271665
Greenberg Dysplasia	Short ribs, Short long bone, Short metacarpal, Hypoplastic vertebral bodies, Thoracic hypoplasia,...	OMIM:215140
Atelosteogenesis, Type I	Clubbing, Tibial bowing, Short metacarpal, Short humerus, Thoracic hypoplasia, Thoracic platyspon...	OMIM:108720
Phaver Syndrome	Butterfly vertebrae, Triphalangeal thumb, Abnormal form of the vertebral bodies, Pterygium, Abnor...	ORPHA:2876
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome	Hyperlordosis	ORPHA:1192
Autosomal Recessive Spastic Paraplegia Type 53	Joint hypermobility, Pectus carinatum, Kyphosis	ORPHA:319199
Autosomal Recessive Stickler Syndrome	Genu valgum, Abnormal epiphysis morphology, Epiphyseal dysplasia, Irregular vertebral endplates, ...	ORPHA:250984
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 6	Hyperlordosis	OMIM:615156
Pfeiffer Syndrome	Clinodactyly of the 5th finger, Finger syndactyly, Hyperlordosis, Synostosis of carpal bones, Bro...	ORPHA:710
Stickler Syndrome, Type I	Beaking of vertebral bodies, Abnormal femoral epiphysis morphology, Spondylolisthesis, Arthritis,...	OMIM:108300
Trichorhinophalangeal Syndrome, Type I	Cone-shaped epiphyses of the middle phalanges of the hand, Ivory epiphyses of the distal phalange...	OMIM:190350
Ehlers-Danlos Syndrome, Arthrochalasia Type, 2	Joint subluxation, Hyperextensibility of the finger joints, Scoliosis, Hyperlordosis, Kyphosis, W...	OMIM:617821
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia	Cranial nerve compression, Hyperlordosis, Abnormal long bone morphology, Abnormality of the verte...	ORPHA:52430
Chondroectodermal Dysplasia With Night Blindness	Fractures of the long bones, Wide humerus, Epiphyseal dysplasia, Metaphyseal dysplasia, Abnormali...	ORPHA:319195
Jansen-De Vries Syndrome	Hyperlordosis, Short foot, Brachydactyly, Small hand	OMIM:617450
Langer Mesomelic Dysplasia	Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Madelung deformity, Increas...	OMIM:249700
Schwartz-Jampel Syndrome	Spinal rigidity, Flexion contracture of toe, Pectus carinatum, Hyperlordosis, Abnormally ossified...	ORPHA:800
Saul-Wilson Syndrome	Short metatarsal, Madelung deformity, Cone-shaped epiphyses of the phalanges of the hand, Flared ...	OMIM:618150
Achondrogenesis Type 1B	Narrow chest, Short thorax, Abnormal rib morphology, Short neck, Short foot	ORPHA:93298
Trappc11-Related Limb-Girdle Muscular Dystrophy R18	Hyperlordosis	ORPHA:369840
Lethal Congenital Contracture Syndrome 5	Decreased nerve conduction velocity, Respiratory insufficiency, Thin ribs, Congenital contracture...	OMIM:615368
Nail-Patella Syndrome	Spondylolysis, Abnormal femur morphology, Spondylolisthesis, Dislocated radial head, Pectus excav...	ORPHA:2614
Osteogenesis Imperfecta, Type Iii	Slender long bone, Wide anterior fontanel, Thin ribs, Scoliosis, Tibial bowing, Kyphosis, Biconca...	OMIM:259420
Lamb-Shaffer Syndrome	Optic atrophy, Scoliosis, Thoracic kyphosis, Fused cervical vertebrae	ORPHA:530983
Osteogenesis Imperfecta, Type Xiii	Kyphoscoliosis, Limitation of knee mobility, Wide distal femoral metaphysis, Dislocated radial he...	OMIM:614856
Neuropathy, Congenital Hypomyelinating, 3	Respiratory insufficiency, Facial diplegia, Decreased motor nerve conduction velocity, Neonatal d...	OMIM:618186
Bent Bone Dysplasia Syndrome 2	Butterfly vertebrae, Short 1st metacarpal, Ulnar bowing, Bowed humerus, Hypoplastic iliac wing, T...	OMIM:620076
Spondyloenchondrodysplasia With Immune Dysregulation	Kyphoscoliosis, Short iliac bones, Barrel-shaped chest, Metaphyseal sclerosis, Increased interver...	OMIM:607944
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome	Abnormal fibula morphology, Tibial bowing, Bowing of the long bones, Abnormally ossified vertebra...	ORPHA:3035
Lateral Meningocele Syndrome	Abnormal form of the vertebral bodies, Scoliosis, Hyperlordosis, Pectus excavatum, Kyphosis, Prom...	ORPHA:2789
Otopalatodigital Syndrome, Type Ii	Kyphoscoliosis, Rocker bottom foot, Spondylolysis, Short ribs, Femoral bowing, Pectus excavatum, ...	OMIM:304120
Congenital Myopathy 10B, Mild Variant	Respiratory failure, Scoliosis, Hyperlordosis, Knee contracture	OMIM:620249
Cantú Syndrome	Abnormal metaphysis morphology, Narrow chest, Short hallux, Finger syndactyly, Short distal phala...	ORPHA:1517
Atelosteogenesis Type I	Absent or minimally ossified vertebral bodies, Abnormal fibula morphology, Narrow chest, Joint di...	ORPHA:1190
Mucopolysaccharidosis, Type Vi	Kyphoscoliosis, Metaphyseal irregularity, Genu valgum, Anterior wedging of L2, Pectus carinatum, ...	OMIM:253200
Muscular Dystrophy, Duchenne Type	Scoliosis, Hyperlordosis, Respiratory insufficiency due to muscle weakness, Knee flexion contract...	OMIM:310200
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2	Kyphoscoliosis, Flared metaphysis, Respiratory insufficiency, Dysplasia of the femoral head, Cerv...	OMIM:615349
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 3	Hyperlordosis	OMIM:613157
Multiple Mitochondrial Dysfunctions Syndrome 3	Respiratory insufficiency, Respiratory failure, Optic atrophy, Arthrogryposis multiplex congenita	OMIM:615330
Acrodysplasia Scoliosis	Brachydactyly, Scoliosis, Vertebral segmentation defect, Spina bifida occulta	ORPHA:2956
Pycnodysostosis	Abnormal clavicle morphology, Short finger, Spondylolysis, Spondylolisthesis, Narrow chest, Hypop...	ORPHA:763
Cornelia De Lange Syndrome 6	Clinodactyly of the 5th finger, Pectus carinatum, Scoliosis, Arachnodactyly, Short palm, Posterio...	OMIM:620568
Verheij Syndrome	Optic nerve hypoplasia, Scoliosis, Hemivertebrae, Joint hypermobility, Short neck, Hip dislocatio...	OMIM:615583
Cohen Syndrome	Optic atrophy, Genu valgum, Cubitus valgus, Short metatarsal, Short metacarpal, Thoracic scoliosi...	OMIM:216550
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3	Kyphoscoliosis, Flat capital femoral epiphysis, Flared metaphysis, Dislocated radial head, Short ...	OMIM:612350
Amyotrophic Lateral Sclerosis 28	Respiratory failure	OMIM:620452
Baller-Gerold Syndrome	Limited elbow movement, Carpal bone aplasia, Optic nerve hypoplasia, Oligodactyly, Short humerus,...	OMIM:218600
Kyphomelic Dysplasia	Lateral clavicle hook, Ulnar bowing, Bowed humerus, Flared metaphysis, Dumbbell-shaped humerus, P...	OMIM:211350
Spondylometaphyseal Dysplasia, Sedaghatian Type	Narrow greater sciatic notch, Cone-shaped epiphyses of the phalanges of the hand, Short ribs, Sho...	OMIM:250220
Achondrogenesis, Type Ia	Hypoplasia of the radius, Hypoplastic sacrum, Stillbirth, Bell-shaped thorax, Unossified vertebra...	OMIM:200600
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Enlarged metaphyses, Femoral bowing, Bifid first metacarpal, Short metacarpal, Death in infancy, ...	OMIM:210710
Arthrogryposis, Distal, Type 5D	Limited elbow movement, Adducted thumb, Scoliosis, Hyperlordosis, Elbow flexion contracture, Calc...	OMIM:615065
Osteogenesis Imperfecta, Type Xxiii	Genu valgum, Broad femoral head, Shallow acetabular fossae, Hip dislocation, Bowing of the legs, ...	OMIM:620639
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type	Pectus carinatum, Scoliosis, Prominent fingertip pads, Hyperlordosis, Arachnodactyly	OMIM:300986
Facioscapulohumeral Dystrophy	Hyperlordosis	ORPHA:269
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies	Camptodactyly, Kyphosis	OMIM:618453
Camptodactyly-Arthropathy-Coxa-Vara-Pericarditis Syndrome	Wrist swelling, Osteoarthritis of the elbow, Knee osteoarthritis, Polyarticular arthropathy, Coxa...	ORPHA:2848
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome	Scoliosis, Abnormal sacrum morphology, Fused cervical vertebrae, Thoracic hemivertebrae	ORPHA:1436
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies	Sprengel anomaly, Abnormal rib morphology, Abnormality of the vertebral column	OMIM:601076
Weismann-Netter Syndrome	Abnormal fibula morphology, Abnormal femur morphology, Abnormal tibia morphology, Abnormal hip bo...	ORPHA:3344
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5	Scoliosis, Hyperlordosis, Kyphosis, Vertebral fusion	OMIM:607155
ERI1-related disease	Limited elbow extension, Increased vertebral height, Clinodactyly of the 5th finger, Narrow chest...	OMIM:608739
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome	Optic atrophy, Respiratory failure requiring assisted ventilation, Pectus carinatum, Scoliosis, F...	ORPHA:496641
Autoimmune Disease, Multisystem, With Facial Dysmorphism	Limited elbow extension, Increased vertebral height, Slender long bone, Thoracic kyphoscoliosis, ...	OMIM:613385
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Adducted thumb, Flared metaphysis, Wormian bones, Short ribs, Decreased fibular diameter, Thoraci...	OMIM:616897
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome	Platyspondyly, Osteoarthritis, Abnormal intervertebral disk morphology	ORPHA:1345
Spondyloepimetaphyseal Dysplasia, Guo-Campeau Type	Proximal placement of thumb, Clinodactyly of the 2nd finger, Dislocated radial head, Pectus carin...	OMIM:620663
Wildervanck Syndrome	Fused cervical vertebrae, Short neck, Facial palsy, Pseudopapilledema	ORPHA:3456
Cenani-Lenz Syndrome	Hypoplasia of the ulna, Hypoplasia of the radius, Abnormal metacarpal morphology, Abnormal form o...	ORPHA:3258
Pomt1-Related Limb-Girdle Muscular Dystrophy R11	Scoliosis, Spinal rigidity, Lumbar hyperlordosis	ORPHA:86812
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2	Limited elbow movement, Spinal rigidity, Limited knee flexion/extension, Hyperlordosis, Scapular ...	ORPHA:268
Immunodeficiency 95	Respiratory failure	OMIM:619773
Renal Hypodysplasia/Aplasia 4	Respiratory failure	OMIM:619887
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy	Optic atrophy, Scoliosis, Lumbar hyperlordosis, Decreased motor nerve conduction velocity, Optic ...	OMIM:601152
Mucopolysaccharidosis, Type Vii	Narrow greater sciatic notch, Anterior beaking of lumbar vertebrae, Platyspondyly, Spatulate ribs...	OMIM:253220
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome	Platyspondyly, Cone-shaped epiphysis	ORPHA:71267
Congenital Myopathy 21 With Early Respiratory Failure	Respiratory failure, Spinal rigidity	OMIM:620326
Pontocerebellar Hypoplasia Type 1	Optic atrophy, Respiratory failure, Arthrogryposis multiplex congenita	ORPHA:2254
Bethlem Muscular Dystrophy	Spinal rigidity, Ankle flexion contracture, Scoliosis, Curved toe phalanx, Scapular winging, Wris...	ORPHA:610
Acro-Renal-Mandibular Syndrome	Abnormal clavicle morphology, Butterfly vertebrae, Hypoplasia of the radius, Hypoplasia of the ul...	ORPHA:958
Dystonia 1, Torsion, Autosomal Dominant	Scoliosis, Hyperlordosis, Facial palsy, Kyphosis	OMIM:128100
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1	Osteopenia, Congenital bilateral hip dislocation, Joint subluxation, Scoliosis, Kyphosis, Contrac...	OMIM:130060
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Narrow greater sciatic notch, Limited elbow movement, Enlarged metaphyses, Short metacarpal, Kyph...	ORPHA:508533
Dysosteosclerosis	Optic atrophy, Abnormal metaphysis morphology, Abnormal cranial nerve morphology, Hypoplastic ver...	ORPHA:1782
Grant Syndrome	Narrow chest, Joint dislocation, Bowing of the long bones, Abnormal rib morphology, Abnormal pelv...	ORPHA:2097
Stickler Syndrome Type 1	Platyspondyly, Abnormal vertebral epiphysis morphology, Osteoarthritis, Abnormal epiphysis morpho...	ORPHA:90653
Robinow Syndrome	Kyphoscoliosis, Scoliosis, Hemivertebrae, Missing ribs, Rib fusion, Bifid distal phalanx of the t...	ORPHA:97360
Spastic Paraplegia 53, Autosomal Recessive	Joint hypermobility, Pectus carinatum, Kyphosis	OMIM:614898
Zttk Syndrome	Cervical ribs, Optic atrophy, Scoliosis, Hemivertebrae, Kyphosis, Rib fusion, Craniosynostosis, S...	OMIM:617140
Martsolf Syndrome 1	Talipes valgus, Slender ulna, Pectus carinatum, Pectus excavatum, Short metacarpal, Osteopathia s...	OMIM:212720
Spinal Muscular Atrophy With Congenital Bone Fractures 2	Multiple prenatal fractures, Flexion contracture, Respiratory failure, Neonatal respiratory distr...	OMIM:616867
X-Linked Intellectual Disability, Stocco Dos Santos Type	Congenital bilateral hip dislocation, Kyphosis	ORPHA:85288
Achondrogenesis Type 1A	Narrow chest, Short thorax, Short foot, Short palm, Short neck, Multiple rib fractures	ORPHA:93299
Fucosidosis	Beaking of vertebral bodies, Anterior beaking of thoracic vertebrae, Anterior beaking of lumbar v...	OMIM:230000
X-Linked Charcot-Marie-Tooth Disease Type 5	Optic atrophy, Scoliosis, Abnormal nerve conduction velocity, Kyphosis	ORPHA:99014
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures	Kyphoscoliosis, Broad distal phalanx of finger, Dislocated radial head, Short long bone, Large il...	OMIM:271640
Combined Oxidative Phosphorylation Deficiency 47	Short palm, Toe syndactyly, Platyspondyly, Short neck, Cone-shaped epiphyses of the distal phalan...	OMIM:618958
Arthrogryposis Multiplex Congenita 6	Death in childhood, Death in infancy, Neonatal death, Respiratory failure, Arthrogryposis multipl...	OMIM:619334
Ceroid Lipofuscinosis, Neuronal, 10	Respiratory insufficiency, Respiratory failure, Neonatal death, Split hand	OMIM:610127
Basal Cell Nevus Syndrome 1	Kyphoscoliosis, Vertebral wedging, Abnormal sternum morphology, Scoliosis, Short ribs, Hemiverteb...	OMIM:109400
Intellectual Developmental Disorder, X-Linked, Syndromic 14	Narrow chest, Pectus carinatum, Scoliosis, Pectus excavatum, Kyphosis	OMIM:300676
Frontometaphyseal Dysplasia 1	Limited elbow movement, Ankle flexion contracture, Genu valgum, Fused cervical vertebrae, Cervica...	OMIM:305620
Osteogenesis Imperfecta, Type Xviii	Vertebral compression fracture, Thin ribs, Femoral bowing, Bowing of the long bones, Biconcave ve...	OMIM:617952
Aarskog-Scott Syndrome	Genu recurvatum, Pectus excavatum, Camptodactyly of finger, Joint hypermobility, Short neck, Abno...	ORPHA:915
Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome	Pectus excavatum, Kyphosis, Cervical ribs	ORPHA:77300
Spinocerebellar Ataxia, Autosomal Recessive 8	Optic atrophy, Scoliosis, Abnormal autonomic nervous system physiology, Kyphosis	OMIM:610743
Sandestig-Stefanova Syndrome	Rocker bottom foot, Camptodactyly, Prominent metopic ridge, Short neck, Respiratory failure, Clin...	OMIM:618804
Saethre-Chotzen Syndrome	Optic atrophy, Clinodactyly of the 5th finger, Triphalangeal thumb, Abnormal form of the vertebra...	ORPHA:794
Thin Ribs-Tubular Bones-Dysmorphism Syndrome	Abnormal pelvic girdle bone morphology, Abnormal rib morphology, Slender long bone	ORPHA:1506
Combined Oxidative Phosphorylation Deficiency 28	Respiratory failure	OMIM:616794
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Optic atrophy, Sclerotic vertebral body, Bell-shaped thorax, Diaphyseal sclerosis, Pectus carinat...	OMIM:618476
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies	Hypoplastic distal segments of scapulae, Joint hypermobility, Pectus excavatum, Abnormal rib morp...	OMIM:602196
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Kyphoscoliosis, Small proximal tibial epiphyses, Broad distal phalanx of finger, Hypoplastic ilia...	ORPHA:96334
Keratoconus Posticus Circumscriptus	Short neck, Limited elbow extension and supination, Abnormal vertebral segmentation and fusion	OMIM:244600
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities	Genu valgum, Clinodactyly of the 5th finger, Scoliosis, Hyperlordosis, Kyphosis, Slender finger, ...	OMIM:618443
Campomelia, Cumming Type	Abnormally ossified vertebrae, Abnormal rib morphology, Bowing of the long bones, Death in infanc...	ORPHA:1318
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type	Scoliosis, Kyphosis, Hip dislocation	OMIM:300434
Mental Retardation, Skeletal Dysplasia, And Abducens Palsy	Scoliosis, Fused cervical vertebrae, Thoracic hemivertebrae, Prominent metopic ridge	OMIM:309620
Ullrich Congenital Muscular Dystrophy 1A	Spinal rigidity, Respiratory insufficiency, Distal joint hypermobility, Scoliosis, Facial palsy, ...	OMIM:254090
Pure Mitochondrial Myopathy	Scoliosis, Scapular winging, Lumbar hyperlordosis	ORPHA:254854
Caudal Regression Syndrome	Aplasia/Hypoplasia of the sacrum, Scoliosis, Missing ribs, Joint stiffness, Hypoplastic vertebral...	ORPHA:3027
Hypophosphatasia	Abnormal metaphysis morphology, Narrow chest, Respiratory insufficiency, Bowing of the long bones...	ORPHA:436
Prune Belly Syndrome	Scoliosis, Vertebral segmentation defect, Pectus excavatum, Abnormal rib morphology, Congenital h...	ORPHA:2970
Gm1 Gangliosidosis	Optic atrophy, Abnormal metaphysis morphology, Abnormal diaphysis morphology, Abnormal form of th...	ORPHA:354
Mucopolysaccharidosis Type 6	Abnormal metaphysis morphology, Genu valgum, Kyphosis, Epiphyseal dysplasia, Ovoid vertebral bodi...	ORPHA:583
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1	Hyperlordosis, Scapular winging	OMIM:600462
Mucopolysaccharidosis, Type Iiia	Scoliosis, Ovoid thoracolumbar vertebrae, Thickened ribs	OMIM:252900
Gm1-Gangliosidosis, Type Ii	Beaking of vertebral bodies, Optic atrophy, Platyspondyly, Scoliosis, Hypoplastic vertebral bodie...	OMIM:230600
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type	Wide anterior fontanel, Wormian bones, Shortening of all phalanges of fingers, Platyspondyly, Sho...	OMIM:601356
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)	Death in childhood, Respiratory insufficiency, Death in infancy, Neonatal death, Respiratory fail...	OMIM:245400
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome	Abnormal form of the vertebral bodies, Scoliosis, Hemivertebrae, Kyphosis, Hypoplastic vertebral ...	ORPHA:2916
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant	Death in childhood, Death in infancy, Knee contracture, Thoracic scoliosis, Respiratory failure, ...	OMIM:620278
Braddock-Carey Syndrome 1	Hyperlordosis, Clinodactyly, Camptodactyly, Small hand	OMIM:619980
Weill-Marchesani Syndrome 1	Broad phalanges of the hand, Scoliosis, Broad metacarpals, Broad metatarsal, Spinal canal stenosi...	OMIM:277600
Cleidocranial Dysplasia	Abnormal thumb morphology, Genu valgum, Clinodactyly of the 5th finger, Abnormal metacarpal morph...	ORPHA:1452
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5	Scoliosis, Hyperlordosis	OMIM:253700
Wolf-Hirschhorn Syndrome	Sacral dimple, Abnormal sternal ossification, Abnormal form of the vertebral bodies, Short hallux...	OMIM:194190
Distal Deletion 10Q	2-3 toe cutaneous syndactyly, Clinodactyly of the 5th finger, Short metatarsal, Spina bifida occu...	ORPHA:96148
Chromosome 10Q26 Deletion Syndrome	Limited elbow extension, 2-3 toe cutaneous syndactyly, Radial deviation of finger, Clinodactyly o...	OMIM:609625
Intellectual Developmental Disorder, Autosomal Dominant 52	Cervical C2/C3 vertebral fusion, Pectus carinatum, Scapular winging, Lumbar scoliosis, Lumbar hyp...	OMIM:617796
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion	Prominent sternum, Pectus excavatum, Wrist flexion contracture, Camptodactyly, Coat hanger sign o...	ORPHA:254528
Oculopharyngeal Myopathy With Leukoencephalopathy 1	Respiratory failure	OMIM:618637
Multiple Endocrine Neoplasia, Type Iib	Aganglionic megacolon, Scoliosis, Hyperlordosis, Pectus excavatum, Kyphosis, Proximal femoral epi...	OMIM:162300
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency	Respiratory failure, Death in infancy	OMIM:616277
Axial Mesodermal Dysplasia Spectrum	Abnormal form of the vertebral bodies, Scoliosis, Vertebral segmentation defect, Abnormal pelvic ...	ORPHA:1834
Lowry-Wood Syndrome	Irregular epiphyses, Dislocated radial head, Abnormal epiphysis morphology, Coxa vara, Epiphyseal...	ORPHA:1824
Multiple Acyl-Coa Dehydrogenase Deficiency	Wide anterior fontanel, Hyperlordosis, Scapular winging, Cardiorespiratory arrest, Respiratory fa...	ORPHA:26791
Myotonia Permanens	Hyperlordosis	ORPHA:99735
Cardiospondylocarpofacial Syndrome	Tarsal synostosis, Fused cervical vertebrae, Scoliosis, Short foot, Fusion of middle ear ossicles...	OMIM:157800
Multiple Synostoses Syndrome 1	Radial deviation of finger, Proximal/middle symphalangism of 5th toe, Dislocated radial head, Pec...	OMIM:186500
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome	Flexion contracture of toe, Scoliosis, Kyphosis, Osteoporosis, Finger joint contracture, Abnormal...	ORPHA:48431
Hallermann-Streiff Syndrome	Decreased number of sternal ossification centers, Slender long bone, Thin ribs, Scoliosis, Hyperl...	OMIM:234100
Gm1-Gangliosidosis, Type I	Beaking of vertebral bodies, Scoliosis, Kyphosis, Death in infancy, Hypoplastic vertebral bodies,...	OMIM:230500
Occipital Horn Syndrome	Limited elbow extension, Genu valgum, Orthostatic hypotension, Narrow chest, Pectus carinatum, Br...	OMIM:304150
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Kyphoscoliosis, Multiple joint dislocation, Pectus carinatum, Pectus excavatum, Arachnodactyly, S...	ORPHA:536467
Craniometadiaphyseal Dysplasia	Genu valgum, Cubitus valgus, Flared metaphysis, Wide anterior fontanel, Scoliosis, Broad long bon...	OMIM:269300
Congenital Fiber-Type Disproportion Myopathy	Kyphoscoliosis, Ankle flexion contracture, Scoliosis, Hyperlordosis, Elbow flexion contracture, P...	ORPHA:2020
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies	Pectus carinatum, Scoliosis, Hyperextensibility of the finger joints, Dislocation of the femoral ...	OMIM:619797
Gm1 Gangliosidosis Type 1	Beaking of vertebral bodies T12-L3, Acetabular dysplasia, Spatulate ribs, Pectus carinatum, Broad...	ORPHA:79255
Holzgreve Syndrome	Abnormal metacarpal morphology, Abnormally ossified vertebrae, Abnormal rib morphology, Hand poly...	ORPHA:2167
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type	Limited elbow extension, Carpal bone hypoplasia, Small epiphyses, Craniosynostosis, Scoliosis, Fe...	OMIM:616723
3Mc Syndrome	Caudal appendage, Spina bifida occulta, Scoliosis, Hyperlordosis, Limited pronation/supination of...	ORPHA:293843
Mucopolysaccharidosis, Type Iiic	Kyphoscoliosis, Ovoid thoracolumbar vertebrae, Thickened ribs, Beaking of vertebral bodies	OMIM:252930
Poland Syndrome	Asymmetry of the thorax, Abnormal sternum morphology, Pectus carinatum, Short ribs, Kyphosis, Apl...	ORPHA:2911
Hip Dysplasia, Beukes Type	Abnormal bone ossification, Abnormality of bone mineral density, Scoliosis, Kyphosis, Osteoarthri...	ORPHA:2114
Crisponi Syndrome	Respiratory insufficiency, Scoliosis, Limitation of joint mobility, Kyphosis, Death in infancy, C...	ORPHA:1545
Myopathy, Myofibrillar, 9, With Early Respiratory Failure	Respiratory failure, Achilles tendon contracture, Scapular winging	OMIM:603689
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia	Respiratory insufficiency, Respiratory failure, Optic atrophy, Death in infancy	OMIM:614299
Mucolipidosis Iii Alpha/Beta	Carpal bone hypoplasia, Spondylolisthesis, Scoliosis, Short ribs, Short long bone, Split hand, Ky...	OMIM:252600
1P36 Deletion Syndrome	Optic atrophy, Bifid ribs, Clinodactyly of the 5th finger, 11 pairs of ribs, Scoliosis, Delayed c...	ORPHA:1606
Spondylo-Ocular Syndrome	Platyspondyly, Short neck, Thoracic kyphosis, Abnormal intervertebral disk morphology	ORPHA:85194
Sclerosteosis 1	Optic atrophy, Broad clavicles, Facial palsy, Abnormal pelvic girdle bone morphology, Deviation o...	OMIM:269500
Orofaciodigital Syndrome Iii	Postaxial hand polydactyly, Pectus excavatum, Kyphosis, Short sternum, Postaxial foot polydactyly	OMIM:258850
Triosephosphate Isomerase Deficiency	Respiratory insufficiency, Death in adolescence, Kyphosis, Death in infancy, Respiratory insuffic...	OMIM:615512
Ring Chromosome 12 Syndrome	Abnormal 5th finger morphology, Pectus excavatum, Symphalangism of the thumb, Syndactyly, Clinoda...	ORPHA:1439
Larsen Syndrome	Beaking of vertebral bodies, Spondylolysis, Multiple carpal ossification centers, Spina bifida oc...	OMIM:150250
10Q22.3Q23.3 Microduplication Syndrome	Abnormal clavicle morphology, Abnormal rib morphology	ORPHA:276422
Leigh Syndrome	Respiratory insufficiency, Respiratory failure, Optic atrophy	OMIM:256000
Congenital Multicore Myopathy With External Ophthalmoplegia	Respiratory failure, Scoliosis, Facial diplegia, Facial palsy	ORPHA:98905
Schimke Immunoosseous Dysplasia	Lateral displacement of the femoral head, Thoracic kyphosis, Hypoplasia of the capital femoral ep...	OMIM:242900
Sialidosis Type 2	Short thorax, Pectus carinatum, Osteoporosis, Kyphosis, Flexion contracture	ORPHA:87876
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Osteopenia, Fused cervical vertebrae, Osteolysis, Flaring of rib cage, Broad ribs, Joint swelling...	OMIM:612852
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Kyphoscoliosis, Optic atrophy, Slender long bone, Optic nerve hypoplasia, Metopic synostosis, Hem...	ORPHA:500150
Shwachman-Diamond Syndrome 1	Narrow greater sciatic notch, Enlargement of the costochondral junction, Metaphyseal sclerosis, N...	OMIM:260400
Ossification Anomalies-Psychomotor Developmental Delay Syndrome	Abnormal diaphysis morphology, Narrow chest, Abnormal form of the vertebral bodies, Slender long ...	ORPHA:73230
Sialidosis Type 1	Decreased nerve conduction velocity, Abnormal form of the vertebral bodies, Short thorax, Pectus ...	ORPHA:812
Glycine Encephalopathy With Normal Serum Glycine	Optic atrophy, Genu recurvatum, Elbow flexion contracture, Hip contracture, Flexion contracture, ...	OMIM:617301
Mitochondrial Dna Depletion Syndrome 11	Spinal rigidity, Respiratory insufficiency, Facial palsy, Kyphosis, Neuropathic spinal arthropathy	OMIM:615084
Mucopolysaccharidosis, Type Iiib	Ovoid thoracolumbar vertebrae, Thickened ribs	OMIM:252920
Familial Osteodysplasia, Anderson Type	Aplasia/hypoplasia of the femur, Clinodactyly of the 5th finger, Abnormal form of the vertebral b...	ORPHA:2769
Lipodystrophy, Familial Partial, Type 6	Lumbar hyperlordosis	OMIM:615980
Ollier Disease	Platyspondyly, Abnormal metaphysis morphology	ORPHA:296
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Lateral clavicle hook, Hypoplasia of the ulna, Fibular hypoplasia, Preaxial polydactyly, Scoliosi...	OMIM:613091
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1	Camptodactyly of finger, Respiratory failure, Ventilator dependence with inability to wean, Decre...	OMIM:604320
Multiple Mitochondrial Dysfunctions Syndrome 1	Respiratory insufficiency, Death in infancy, Neonatal death, Facial paralysis, Respiratory failure	OMIM:605711
Cat-Eye Syndrome	Abnormal rib morphology, Hip dysplasia	ORPHA:195
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy	Respiratory insufficiency, Scoliosis, Hyperlordosis, Facial palsy, Respiratory failure, Intercost...	ORPHA:258
Hydrocephaly-Tall Stature-Joint Laxity Syndrome	Joint hypermobility, Shoulder dislocation, Scoliosis, Kyphosis	ORPHA:2181
Trisomy 13	Optic atrophy, Narrow chest, Scoliosis, Postaxial hand polydactyly, Abnormal pelvic girdle bone m...	ORPHA:3378
Lymphangiectasia, Intestinal	Stillbirth, Prominent floating ribs	OMIM:152800
Microcephalic Primordial Dwarfism, Toriello Type	Abnormal epiphysis morphology, Brachydactyly, Abnormal rib morphology	ORPHA:2643
Hurler Syndrome	Abnormal clavicle morphology, Abnormal vertebral morphology, Abnormal diaphysis morphology, Abnor...	ORPHA:93473
Lateral Meningocele Syndrome	Scoliosis, Wormian bones, Pectus excavatum, Kyphosis, Biconcave vertebral bodies, Sclerosis of sk...	OMIM:130720
Infantile Liver Failure Syndrome 3	Beaking of vertebral bodies, Death in childhood, Hypoplastic vertebral bodies, Abnormality of the...	OMIM:618641
Joubert Syndrome 37	Postaxial polydactyly, Lumbar hyperlordosis, Prominent metopic ridge	OMIM:619185
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Long clavicles, Fused cervical vertebrae, Thin ribs, Cleft vertebral arch, Coronal craniosynostos...	ORPHA:83617
Calvarial Doughnut Lesions With Bone Fragility	Platyspondyly, Scoliosis, Femoral bowing	OMIM:126550
Camurati-Engelmann Disease	Optic atrophy, Abnormal femur morphology, Abnormal tibia morphology, Optic nerve compression, Abn...	ORPHA:1328
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Multiple joint dislocation, Sandal gap, Enlarged metaphyses, Dislocated radial head, Pectus carin...	OMIM:245600
Borjeson-Forssman-Lehmann Syndrome	Cervical spinal canal stenosis, Scoliosis, Scheuermann-like vertebral changes, Kyphosis	OMIM:301900
Spondylodysplastic Ehlers-Danlos Syndrome	Kyphoscoliosis, Subluxation of the small joints of the hand, Pectus carinatum, Optic nerve hypopl...	ORPHA:536471
Otopalatodigital Syndrome Type 1	Increased bone mineral density, Limitation of joint mobility, Synostosis of carpal bones, Elbow d...	ORPHA:90650
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies	Limited elbow extension, Genu valgum, Broad long bone diaphyses, Hyperlordosis, Broad metacarpals...	OMIM:301066
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Lateral clavicle hook, Disproportionate shortening of the tibia, Narrow chest, Postaxial polysynd...	OMIM:263520
Stuve-Wiedemann Syndrome 1	Flexion contracture of toe, Femoral bowing, Short long bone, Abnormal autonomic nervous system ph...	OMIM:601559
Combined Oxidative Phosphorylation Deficiency 52	Respiratory failure, Death in infancy	OMIM:619386
Tetraamelia-Multiple Malformations Syndrome	Optic atrophy, Abnormally ossified vertebrae, Missing ribs, Septo-optic dysplasia, Abnormal rib m...	ORPHA:3301
Thoracic Dysplasia-Hydrocephalus Syndrome	Abnormal metaphysis morphology, Respiratory failure, Narrow chest	ORPHA:1861
Osteogenesis Imperfecta, Type Vii	Narrow chest, Vertebral compression fracture, Crumpled long bones, Femoral retroversion, Scoliosi...	OMIM:610682
Hepatic Veno-Occlusive Disease	Respiratory failure	ORPHA:890
Blomstrand Lethal Chondrodysplasia	Narrow chest, Flared metaphysis, Short thorax, Broad clavicles, Metaphyseal cupping, Short ribs, ...	ORPHA:50945
Wieacker-Wolff Syndrome, Female-Restricted	Narrow chest, Scoliosis, Facial palsy, Kyphosis, Hip contracture, Achilles tendon contracture, Fl...	OMIM:301041
Spastic Paraplegia, Optic Atrophy, And Neuropathy	Optic atrophy, Scoliosis, Kyphosis, Flexion contracture, Ankle clonus, Optic disc pallor	OMIM:609541
Mosaic Trisomy 20	Fused cervical vertebrae, Narrow chest, Scoliosis, Vertebral segmentation defect, Kyphosis, Spina...	ORPHA:1724
Koolen-De Vries Syndrome	Scoliosis, Vertebral segmentation defect, Pectus excavatum, Kyphosis, Joint hypermobility, Hip di...	ORPHA:96169
Congenital Neuronal Ceroid Lipofuscinosis	Respiratory failure, Neonatal respiratory distress, Split hand	ORPHA:168486
Spinocerebellar Ataxia Type 1	Optic atrophy, Respiratory failure, Abnormality of somatosensory evoked potentials, Abnormal nerv...	ORPHA:98755
Craniotubular Dysplasia, Ikegawa Type	Optic atrophy, Diaphyseal dysplasia, Optic nerve compression, Increased intervertebral space, Opt...	OMIM:619727
Ehlers-Danlos Syndrome, Classic-Like, 2	Osteopenia, Generalized joint hypermobility, Cervical C2/C3 vertebral fusion, Shoulder dislocatio...	OMIM:618000
Alagille Syndrome 1	Hypoplasia of the ulna, Butterfly vertebral arch, Hemivertebrae, Abnormal rib morphology, Short d...	OMIM:118450
Ulbright-Hodes Syndrome	Hypoplasia of the radius, Fibular aplasia, Thin ribs, Short ribs, Short metacarpal, Abnormal rib ...	ORPHA:3404
Hall-Riggs Syndrome	Abnormal metaphysis morphology, Scoliosis, Abnormal epiphysis morphology, Brachydactyly, Platyspo...	ORPHA:2107
Mitochondrial Complex Iii Deficiency, Nuclear Type 8	Respiratory failure, Death in childhood, Optic disc pallor	OMIM:615838
Chromosome 1P36 Deletion Syndrome, Distal	Optic atrophy, Clinodactyly of the 5th finger, 11 pairs of ribs, Wide anterior fontanel, Scoliosi...	OMIM:607872
Difference Of Sex Development-Intellectual Disability Syndrome	Reduced bone mineral density, Genu valgum, Spina bifida occulta, Short thorax, Kyphosis, Short neck	ORPHA:2983
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor	Wide anterior fontanel, Sacral dimple, Pectus excavatum, Kyphosis	OMIM:618272
Weill-Marchesani Syndrome 2	Short finger, Flexion contracture of toe, Short metatarsal, Broad phalanges of the hand, Scoliosi...	OMIM:608328
Mcdonough Syndrome	Scoliosis, Pectus excavatum, Kyphosis	ORPHA:2471
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23	Decreased nerve conduction velocity, Elbow flexion contracture, Kyphosis	OMIM:618138
Mitochondrial Complex I Deficiency, Nuclear Type 10	Optic atrophy, Respiratory failure	OMIM:618233
Ruvalcaba Syndrome	Limited elbow extension, Scoliosis, Kyphosis, Narrow chest	OMIM:180870
Geroderma Osteodysplasticum	Kyphoscoliosis, Beaking of vertebral bodies, Vertebral compression fracture, Hyperextensibility o...	OMIM:231070
Shprintzen Omphalocele Syndrome	Narrow chest, Scoliosis, Kyphosis, Neonatal respiratory distress, Lumbar hyperlordosis	OMIM:182210
Intellectual Disability-Developmental Delay-Contractures Syndrome	Scoliosis, Limitation of joint mobility, Kyphosis, Congenital foot contractures	ORPHA:3454
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome	Joint hypermobility, Recurrent fractures, Abnormal rib morphology, Decreased calvarial ossification	ORPHA:2772
Mosaic Trisomy 8	Clinodactyly of the 5th finger, Narrow chest, Scoliosis, Vertebral segmentation defect, Abnormal ...	ORPHA:96061
Sandhoff Disease	Kyphosis	ORPHA:796
Arthrogryposis, Distal, Type 5	Scoliosis, Recurrent patellar dislocation, Pectus excavatum, Congenital finger flexion contractur...	OMIM:108145
Cdkl5-Deficiency Disorder	Scoliosis, Kyphosis	ORPHA:505652
Congenital Myopathy 22A, Classic	Spinal rigidity, Respiratory insufficiency, Scoliosis, Scapular winging, Pectus excavatum, Kyphos...	OMIM:620351
Congenital Muscular Dystrophy With Cerebellar Involvement	Optic atrophy, Optic nerve hypoplasia, Lumbar hyperlordosis	ORPHA:370959
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies	Clinodactyly of the 2nd finger, Broad middle phalanx of finger, Clinodactyly of the 3rd finger, O...	ORPHA:221139
Schneckenbecken Dysplasia	Lateral clavicle hook, Abnormal metaphysis morphology, Fibular hypoplasia, Diaphyseal undertubula...	ORPHA:3144
Rhizomelic Syndrome, Urbach Type	Abnormal form of the vertebral bodies, Wide anterior fontanel, Limitation of joint mobility, Kyph...	ORPHA:3098
Hemifacial Atrophy, Progressive	Kyphosis, Horner syndrome	OMIM:141300
Short Stature, Oligodontia, Dysmorphic Facies, And Motor Delay	Lumbar kyphosis, Bilateral camptodactyly, Back pain, Long hallux, Toe syndactyly, Lumbar hyperlor...	OMIM:619234
Pyknoachondrogenesis	Short iliac bones, Short thorax, Abnormal iliac wing morphology, Enlarged thorax, Short ribs, Sho...	ORPHA:3003
Arnold-Chiari Malformation Type I	Abnormality of the vestibulocochlear nerve, Abnormality of the twelfth cranial nerve, Stiff neck,...	ORPHA:268882
Pallister-Hall Syndrome	Short 4th metacarpal, Bilateral postaxial polydactyly, Polydactyly affecting the 4th finger, Poly...	ORPHA:672
Stiff Person Spectrum Disorder	Lumbar hyperlordosis	ORPHA:3198
Thoracic Outlet Syndrome	Abnormal rib morphology	ORPHA:97330
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism	Cervical C2/C3 vertebral fusion, Thoracolumbar scoliosis, Flexion contracture, Acetabular dysplas...	OMIM:616549
Schimke Immuno-Osseous Dysplasia	Wide capital femoral epiphyses, Abnormal femoral head morphology, Hypoplastic pelvis, Ovoid verte...	ORPHA:1830
Otopalatodigital Syndrome Type 2	Tarsal synostosis, Narrow chest, Increased bone mineral density, Scoliosis, Synostosis of carpal ...	ORPHA:90652
Acrorenal-Mandibular Syndrome	Kyphoscoliosis, Butterfly vertebrae, Hypoplasia of the radius, Hypoplasia of the ulna, Narrow che...	OMIM:200980
Thrombocytopenia-Absent Radius Syndrome	Fused cervical vertebrae, Aplasia/Hypoplasia of the patella, Scoliosis, Cervical ribs, Patellar d...	ORPHA:3320
Alexander Disease	Respiratory insufficiency, Scoliosis, Hyperlordosis, Facial palsy, Abnormal autonomic nervous sys...	ORPHA:58
X-Linked Hypophosphatemia	Vertebral hyperostosis, Enlargement of the costochondral junction, Genu valgum, Craniosynostosis,...	ORPHA:89936
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy	Camptodactyly of finger, Respiratory failure, Flexion contracture, Death in infancy	ORPHA:1194
Infant Acute Respiratory Distress Syndrome	Respiratory failure, Abnormal thorax morphology	ORPHA:70587
Brown-Vialetto-Van Laere Syndrome 1	Respiratory failure requiring assisted ventilation, Death in childhood, Respiratory insufficiency...	OMIM:211530
Autosomal Dominant Popliteal Pterygium Syndrome	Popliteal pterygium, Finger syndactyly, Scoliosis, Split hand, Abnormal rib morphology, Toe synda...	ORPHA:1300
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia	Respiratory failure	OMIM:613435
Pyruvate Dehydrogenase E1-Alpha Deficiency	Respiratory failure	OMIM:312170
Craniosynostosis, Herrmann-Opitz Type	Finger syndactyly, Split hand, Abnormal rib morphology, Brachydactyly, Craniosynostosis	ORPHA:2145
Arthrogryposis Multiplex Congenita 3, Myogenic Type	Kyphoscoliosis, Scoliosis, Kyphosis, Flexion contracture of finger, Flexion contracture, Arthrogr...	OMIM:618484
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type	Respiratory failure	ORPHA:70472
Koolen-De Vries Syndrome	Sacral dimple, Spondylolisthesis, Scoliosis, Pectus excavatum, Kyphosis, Prominent metopic ridge,...	OMIM:610443
Zimmermann-Laband Syndrome 3	Flexion contracture, Kyphosis	OMIM:618658
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe	Supraumbilical raphe, Bifid sternum	OMIM:140850
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome	Scoliosis, Kyphosis	ORPHA:2429
Neuromyelitis Optica Spectrum Disorder	Respiratory failure	ORPHA:71211
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome	Scoliosis, Kyphosis, Prominent metopic ridge	ORPHA:85317
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects	Butterfly vertebrae, Fused cervical vertebrae, Spina bifida occulta, Pectus excavatum, Sprengel a...	OMIM:619227
Osteoporosis-Pseudoglioma Syndrome	Kyphoscoliosis, Barrel-shaped chest, Vertebral compression fracture, Scoliosis, Tibial bowing, Ky...	OMIM:259770
Sponastrime Dysplasia	Kyphoscoliosis, Short long bone, Biconcave vertebral bodies, Metaphyseal irregularity, Flattened ...	ORPHA:93357
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6	Respiratory failure, Ankle clonus	OMIM:613954
Renpenning Syndrome	Abnormal thumb morphology, Clinodactyly of the 5th finger, Pectus excavatum, Abnormal rib morphol...	ORPHA:3242
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins	Butterfly vertebrae, Neonatal respiratory distress, Neonatal death, Posterior rib fusion	OMIM:265380
O'Donnell-Luria-Rodan Syndrome	Kyphosis	OMIM:618512
Multiple Pterygium-Malignant Hyperthermia Syndrome	Finger syndactyly, Scoliosis, Pectus excavatum, Abnormal rib morphology, Kyphosis, Metatarsus add...	ORPHA:2215
Meier-Gorlin Syndrome 1	Absent sternal ossification, Pectus carinatum, Short ribs, Death in infancy, Genu varum, Coxa val...	OMIM:224690
Atelosteogenesis Type Iii	Short tubular bones of the hand, Fibular aplasia, Absent radius, Epiphyseal stippling of the hume...	ORPHA:56305
Alkaptonuria	Limitation of knee mobility, Intervertebral disk degeneration, Arthritis, Arthropathy, Kyphosis, ...	OMIM:203500
Pelizaeus-Merzbacher Disease	Optic atrophy, Respiratory insufficiency, Scoliosis, Kyphosis, Joint stiffness	ORPHA:702
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome	Joint hypermobility, Cubitus valgus, Kyphosis	ORPHA:1875
Occipital Horn Syndrome	Pectus carinatum, Large iliac wing, Pectus excavatum, Kyphosis, Absent tibia, Aplasia/hypoplasia ...	ORPHA:198
Arterial Tortuosity Syndrome	Rocker bottom foot, Clinodactyly of the 5th finger, Craniosynostosis, Scoliosis, Coxa vara, Arach...	ORPHA:3342
Developmental Malformations-Deafness-Dystonia Syndrome	Scoliosis, Hypoplastic scapulae, Kyphosis, Death in early adulthood	ORPHA:79107
Ruvalcaba Syndrome	Narrow chest, Abnormal vertebral epiphysis morphology, Pectus carinatum, Scoliosis, Synostosis of...	ORPHA:3121
Familial Congenital Mirror Movements	Fused cervical vertebrae	ORPHA:238722
Campomelic Dysplasia	11 pairs of ribs, Narrow chest, Poorly ossified cervical vertebrae, Respiratory insufficiency, Tr...	ORPHA:140
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii	Abnormal metaphysis morphology, Aplasia/hypoplasia of the femur, Broad distal phalanx of finger, ...	ORPHA:2636
Autism Spectrum Disorder Due To Auts2 Deficiency	Joint contracture of the 5th finger, Scoliosis, Kyphosis, Congenital contracture, Arthrogryposis ...	ORPHA:352490
Turnpenny-Fry Syndrome	Adducted thumb, Narrow chest, Pectus carinatum, Wide anterior fontanel, Thoracic kyphoscoliosis, ...	OMIM:618371
Combined Oxidative Phosphorylation Deficiency 11	Stillbirth, Death in childhood, Death in infancy, Neonatal death, Respiratory failure	OMIM:614922
Orofaciodigital Syndrome Type 3	Thoracic kyphosis, Postaxial hand polydactyly, Pectus excavatum, Short sternum, Postaxial foot po...	ORPHA:2752
Mitochondrial Myopathy And Sideroblastic Anemia	Scoliosis, Kyphosis	ORPHA:2598
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1	Kyphoscoliosis, Joint dislocation, Respiratory insufficiency, Thin ribs, Congenital hip dislocati...	OMIM:225400
Marfanoid Habitus With Situs Inversus	Genu recurvatum, Pectus carinatum, Scoliosis, Hyperextensibility of the finger joints, Kyphosis	OMIM:609008
Intellectual Developmental Disorder, Autosomal Dominant 73	Limited elbow extension, Axillary pterygium, Clinodactyly of the 5th finger, Narrow chest, Scolio...	OMIM:620450
Van Den Ende-Gupta Syndrome	Dislocated radial head, Short ribs, Femoral bowing, Pectus excavatum, Arachnodactyly, Slender met...	OMIM:600920
Frank-Ter Haar Syndrome	Beaking of vertebral bodies, Avascular necrosis, Genu recurvatum, Scoliosis, Kyphosis, Joint stif...	ORPHA:137834
Trichodermodysplasia-Dental Alterations Syndrome	Scoliosis, Hyperlordosis, Abnormal hip bone morphology	ORPHA:3353
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome	Finger syndactyly, Toe syndactyly, Hyperlordosis	ORPHA:3253
X-Linked Myotubular Myopathy-Abnormal Genitalia Syndrome	Respiratory insufficiency, Joint hypermobility, Thin ribs	ORPHA:456328
Kleefstra Syndrome 2	Scoliosis, Kyphosis	OMIM:617768
Trisomy 20P	Abnormal hip bone morphology, Abnormal form of the vertebral bodies, Finger syndactyly, Scoliosis...	ORPHA:261318
Scarf Syndrome	Lambdoidal craniosynostosis, Barrel-shaped chest, Abnormal form of the vertebral bodies, Pectus c...	OMIM:312830
Shprintzen-Goldberg Craniosynostosis Syndrome	Lateral clavicle hook, Genu valgum, C1-C2 vertebral abnormality, Pectus carinatum, Scoliosis, Thi...	OMIM:182212
Myofibrillar Myopathy 10	Ankle flexion contracture, Elbow flexion contracture, Kyphosis, Flexion contracture of finger, Kn...	OMIM:619040
Lethal Congenital Contracture Syndrome 10	Adducted thumb, Narrow chest, Femoral bowing, Short long bone, Thoracic scoliosis, Short neck, Ov...	OMIM:617022
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement	Clinodactyly of the 5th finger, Abnormal hip bone morphology, Tibial bowing, Slender finger, Broa...	ORPHA:251028
Frontorhiny	Scoliosis, Camptodactyly of finger, Brachydactyly, Finger clinodactyly, Lumbar hyperlordosis	ORPHA:391474
Scarf Syndrome	Craniosynostosis, Abnormal form of the vertebral bodies, Pectus carinatum, Short sternum, Short neck	ORPHA:3134
3C Syndrome	Optic atrophy, Scoliosis, Hemivertebrae, Kyphosis, Missing ribs, Death in infancy, Short neck	ORPHA:7
Joubert Syndrome 21	Optic atrophy, Megalopapilla, Bell-shaped thorax, Short ribs, Respiratory failure	OMIM:615636
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Hemivertebrae, 11 pairs of ribs, Abnormal vertebral morphology	ORPHA:77298
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder	Pectus carinatum, Kyphosis	ORPHA:500180
Microcephalic Primordial Dwarfism, Montreal Type	Reduced bone mineral density, Scoliosis, Vertebral segmentation defect, Kyphosis	ORPHA:2617
Osteoglophonic Dysplasia	Broad metacarpals, Short metatarsal, Craniosynostosis, Pectus excavatum, Broad metatarsal, Short ...	OMIM:166250
Aspergillosis	Abnormal long bone morphology, Abnormal rib morphology, Abnormality of the vertebral column	ORPHA:1163
Mitochondrial Complex I Deficiency, Nuclear Type 11	Scoliosis, Osteoporosis, Kyphosis	OMIM:618234
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Lateral clavicle hook, Hypoplasia of the ulna, Fibular hypoplasia, Irregular epiphyses, Narrow ch...	OMIM:208500
Spondyloenchondrodysplasia	Pectus carinatum, Arthritis, Hypoplastic ilia, Kyphosis, Short distal phalanx of finger, Metaphys...	ORPHA:1855
Immunodeficiency 54	Respiratory insufficiency, Respiratory failure	OMIM:609981
Osteogenesis Imperfecta, Type Xvii	Kyphoscoliosis, Thin metacarpal cortices, Vertebral compression fracture, Bowed humerus, Thin lon...	OMIM:616507
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Generalized joint hypermobility, Shoulder subluxation, Fused cervical vertebrae, Optic nerve hypo...	ORPHA:508498
Lipodystrophy, Congenital Generalized, Type 4	Scoliosis, Spinal rigidity, Hyperlordosis	OMIM:613327
Subaortic Stenosis-Short Stature Syndrome	Respiratory insufficiency, Scoliosis, Synostosis of carpal bones, Kyphosis, Short neck	ORPHA:3191
Vacterl/Vater Association	Abnormal intervertebral disk morphology, Finger syndactyly, Vertebral segmentation defect, Abnorm...	ORPHA:887
Geleophysic Dysplasia 1	Short long bone, Pectus excavatum, Short foot, Irregular capital femoral epiphysis, Wrist flexion...	OMIM:231050
Myhre Syndrome	Abnormal metaphysis morphology, Large iliac wing, Abnormal epiphysis morphology, Abnormal rib mor...	ORPHA:2588
Camptodactyly Syndrome, Guadalajara Type 3	Spina bifida occulta, Abnormal rib morphology, Broad femoral neck, Thickened cortex of long bones...	ORPHA:488434
Spondyloocular Syndrome	Femur fracture, Vertebral compression fracture, Pectus carinatum, Shield chest, Arachnodactyly, L...	OMIM:605822
Idiopathic Juvenile Osteoporosis	Vertebral compression fracture, Bone pain, Kyphosis, Osteoporosis, Recurrent fractures	ORPHA:85193
Jaberi-Elahi Syndrome	Optic atrophy, Pectus carinatum, Scoliosis, Kyphosis, Joint stiffness, Joint hypermobility	OMIM:617988
Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type	Respiratory failure, Slender finger	OMIM:250940
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Optic atrophy, Lumbar kyphosis, Barrel-shaped chest, Pectus carinatum, Thoracic kyphosis, Short n...	ORPHA:505248
Intellectual Developmental Disorder, Autosomal Dominant 29	Sandal gap, Hyperlordosis, Cutaneous finger syndactyly, Broad hallux, Hip dysplasia, Lumbar hyper...	OMIM:616078
Campomelic Dysplasia	Kyphoscoliosis, Absent sternal ossification, Dislocated radial head, Pectus carinatum, Hypoplasti...	OMIM:114290
Alpha-Mannosidosis	Avascular necrosis, Arthritis, Scoliosis, Synostosis of joints, Kyphosis, Delayed skeletal matura...	ORPHA:61
Severe Neurodegenerative Syndrome With Lipodystrophy	Respiratory failure	ORPHA:363400
Distal 22Q11.2 Microdeletion Syndrome	Clinodactyly of the 5th finger, Sandal gap, Hyperlordosis, Bowing of the long bones, Arachnodacty...	ORPHA:261330
Stiff-Person Syndrome	Lumbar hyperlordosis	OMIM:184850
Short-Rib Thoracic Dysplasia 12	Short finger, Narrow chest, Short thorax, Respiratory insufficiency, Short ribs, Short long bone,...	OMIM:269860
Sjögren-Larsson Syndrome	Joint stiffness, Scoliosis, Kyphosis	ORPHA:816
Opitz-Kaveggia Syndrome	Radial deviation of finger, Sacral dimple, Wide anterior fontanel, Prominent fingertip pads, Spli...	OMIM:305450
Combined Oxidative Phosphorylation Deficiency 4	Respiratory failure, Death in infancy	OMIM:610678
Uruguay Faciocardiomusculoskeletal Syndrome	Kyphoscoliosis, Limited elbow movement, Scoliosis, Dislocation of toes, Camptodactyly, Kyphosis, ...	OMIM:300280
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Tapered toe, Long toe, Respiratory insufficiency, Elbow flexion contracture, Death in infancy, Lo...	OMIM:608836
Fraser Syndrome 2	Short thorax, Short neck, Cutaneous syndactyly, Respiratory failure	OMIM:617666
Koolen-De Vries Syndrome Due To A Point Mutation	Optic atrophy, Cervical spinal canal stenosis, Sacral dimple, Spondylolisthesis, Joint dislocatio...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Optic atrophy, Cervical spinal canal stenosis, Sacral dimple, Spondylolisthesis, Joint dislocatio...	ORPHA:363958
Mitochondrial Complex Iv Deficiency, Nuclear Type 1	Optic atrophy, Respiratory failure, Respiratory insufficiency due to muscle weakness, Death in ch...	OMIM:220110
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Aplasia/hypoplasia of the femur, Proximal placement of thumb, Hypoplastic pubic ramus, Dislocated...	OMIM:609945
Kagami-Ogata Syndrome	Kyphoscoliosis, Respiratory failure requiring assisted ventilation, Bell-shaped thorax, Coat hang...	ORPHA:254519
Intellectual Developmental Disorder, Autosomal Dominant 26	Scoliosis, Arthrogryposis multiplex congenita, Kyphosis	OMIM:615834
Faciodigitogenital Syndrome, Autosomal Recessive	Pectus excavatum, Camptodactyly, Abnormal rib cage morphology, Hyperextensible hand joints, Down-...	OMIM:227330
Ulna And Fibula, Absence Of, With Severe Limb Deficiency	Aplasia/hypoplasia of the femur, Carpal bone aplasia, Broad clavicles, Pectus carinatum, Femoral ...	OMIM:276820
Alpha-Mannosidosis, Infantile Form	Talipes valgus, Genu valgum, Craniosynostosis, Pectus carinatum, Bilateral coxa valga, Pectus exc...	ORPHA:309282
Weismann-Netter Syndrome	Scoliosis, Horizontal sacrum, Kyphosis	OMIM:112350
Osteopetrosis, Autosomal Recessive 5	Optic atrophy, Stillbirth, Osteopetrosis, Hip subluxation, Increased bone mineral density, Facial...	OMIM:259720
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Abnormal pelvic girdle bone morphology, Anterior rib cupping, Platyspondyly, Growth arrest lines,...	OMIM:102700
Infantile Krabbe Disease	Optic atrophy, Delayed brainstem auditory evoked response conduction time, Decreased nerve conduc...	ORPHA:206436
Helsmoortel-Van Der Aa Syndrome	Polydactyly, Genu valgum, Clinodactyly of the 5th finger, Sandal gap, Scoliosis, Prominent finger...	OMIM:615873
Ciliary Dyskinesia, Primary, 5	Respiratory failure, Neonatal respiratory distress, Respiratory insufficiency due to defective ci...	OMIM:608647
Cerebrocostomandibular Syndrome	Anomalous rib insertion to vertebrae, 10 pairs of ribs, 11 pairs of ribs, Bell-shaped thorax, Rib...	OMIM:117650
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome	Scoliosis, Kyphosis	ORPHA:1858
Ear-Patella-Short Stature Syndrome	Clinodactyly of the 5th finger, Craniosynostosis, Slender long bone, Abnormal rib morphology, Cam...	ORPHA:2554
Cerebrocostomandibular Syndrome	Clinodactyly of the 5th finger, Bell-shaped thorax, Posterior rib gap, Kyphosis, Death in infancy...	ORPHA:1393
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Lateral clavicle hook, Narrow greater sciatic notch, Fibular hypoplasia, Preaxial polydactyly, Na...	OMIM:617925
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18	Scoliosis, Hyperlordosis, Hip dysplasia	OMIM:615356
Eiken Syndrome	Fibular hypoplasia, Delayed epiphyseal ossification, Delayed ossification of carpal bones, Flat a...	OMIM:600002
Marshall Syndrome	Small distal femoral epiphysis, Small proximal tibial epiphyses, Clinodactyly of the 5th finger, ...	OMIM:154780
Atypical Rett Syndrome	Scoliosis, Abnormal autonomic nervous system physiology, Kyphosis	ORPHA:3095
Fountain Syndrome	Spina bifida occulta, Abnormal form of the vertebral bodies, Scoliosis, Pectus excavatum, Kyphosis	ORPHA:3219
Antley-Bixler Syndrome	Narrow chest, Delayed cranial suture closure, Femoral bowing, Abnormal rib morphology, Camptodact...	ORPHA:83
Bone Fragility With Contractures, Arterial Rupture, And Deafness	Scoliosis, Elbow flexion contracture, Hypoplasia of the capital femoral epiphysis, Contracture of...	OMIM:612394
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Rocker bottom foot, Proximal tibial and fibular fusion, Femoral bowing, Short metacarpal, Arachno...	ORPHA:95699
Cleidocranial Dysplasia 1	Spondylolysis, Delayed pubic bone ossification, Spondylolisthesis, Narrow chest, Increased bone m...	OMIM:119600
Marden-Walker Syndrome	Abnormal sternum morphology, Scoliosis, Wide anterior fontanel, Kyphosis, Camptodactyly, Congenit...	OMIM:248700
Fibrous Dysplasia Of Bone	Abnormal clavicle morphology, Abnormal femur morphology, Abnormal tibia morphology, Abnormal lumb...	ORPHA:249
Oculocerebrofacial Syndrome, Kaufman Type	Optic atrophy, Respiratory failure	ORPHA:2707
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type	Scoliosis, Kyphosis	OMIM:300861
Srd5A3-Cdg	Optic atrophy, Abnormal sacrum morphology, Kyphosis	ORPHA:324737
Monosomy 9Q22.3	Polydactyly, Abnormality of the vertebral column, Metopic synostosis, Pectus excavatum, Abnormal ...	ORPHA:77301
Lethal Congenital Contracture Syndrome 2	Respiratory failure, Arthrogryposis multiplex congenita	OMIM:607598
Central Hypoventilation Syndrome, Congenital, 3	Respiratory failure	OMIM:619483
Steinfeld Syndrome	Hypoplasia of the ulna, Hypoplasia of the radius, Abnormal vertebral morphology, Abnormality of t...	OMIM:184705
Clark-Baraitser syndrome	Genu valgum, Genu recurvatum, Scoliosis, Kyphosis, Joint hypermobility	OMIM:300602
Frontometaphyseal Dysplasia	Limited elbow movement, Fused cervical vertebrae, Limitation of knee mobility, Spina bifida occul...	ORPHA:1826
Hypomelanosis Of Ito	Scoliosis, Kyphosis	OMIM:300337
Early-Onset Progressive Leukoencephalopathy-Central Nervous System Calcification-Deafness-Visual Impairment Syndrome	Respiratory failure, Absent brainstem auditory responses	ORPHA:3240
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development	Scoliosis, Kyphosis	OMIM:618124
Lopes-Maciel-Rodan Syndrome	Scoliosis, Kyphosis, Ankle clonus	OMIM:617435
Coffin-Lowry Syndrome	Lumbar kyphosis, Bifid sternum, Pectus carinatum, Scoliosis, Hyperextensibility of the finger joi...	OMIM:303600
Myasthenic Syndrome, Congenital, 20, Presynaptic	Scoliosis, Arthrogryposis multiplex congenita, Facial palsy, Kyphosis	OMIM:617143
Combined Oxidative Phosphorylation Deficiency 3	Optic atrophy, Death in childhood, Respiratory insufficiency, Optic neuropathy, Death in infancy,...	OMIM:610505
Interstitial Pneumonitis, Desquamative, Familial	Respiratory failure	OMIM:263000
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome	Kyphoscoliosis, Asymmetry of the thorax, Kyphosis, Arachnodactyly, Metopic synostosis, Lumbar hyp...	ORPHA:457359
Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis	Joint hypermobility, Cervical C2/C3 vertebral fusion, Camptodactyly	OMIM:617333
Coffin-Lowry Syndrome	Optic atrophy, Abnormal form of the vertebral bodies, Death in early adulthood, Pectus carinatum,...	ORPHA:192
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2	Metopic synostosis, Elbow flexion contracture, Death in infancy, Short neck, Hip contracture, Tho...	OMIM:300868
Spastic Paraplegia 46, Autosomal Recessive	Scoliosis, Kyphosis, Ankle clonus	OMIM:614409
Surfactant Metabolism Dysfunction, Pulmonary, 1	Clubbing, Death in infancy, Neonatal death, Respiratory failure, Neonatal respiratory distress	OMIM:265120
Simpson-Golabi-Behmel Syndrome	Scoliosis, Vertebral segmentation defect, Pectus excavatum, Abnormal rib morphology, Death in inf...	ORPHA:373
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation	Arachnodactyly, Scoliosis, Hyperlordosis, Kyphosis	OMIM:617011
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Narrow greater sciatic notch, Stillbirth, Fibular hypoplasia, Preaxial polydactyly, Bell-shaped t...	OMIM:616300
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome	Abnormal sternum morphology, Short ribs, Postaxial hand polydactyly, Abnormal rib morphology, Bro...	ORPHA:2519
Fanconi Anemia, Complementation Group I	Optic nerve hypoplasia, Short neck, Fused cervical vertebrae	OMIM:609053
Peroxisome Biogenesis Disorder 4A (Zellweger)	Respiratory failure, Epiphyseal stippling, Death in infancy	OMIM:614862
Cdags Syndrome	Lambdoidal craniosynostosis, Short clavicles, Delayed cranial suture closure, Short ribs, Kyphosi...	OMIM:603116
Scedosporiosis	Septic arthritis, Respiratory failure, Arthralgia/arthritis, Osteomyelitis	ORPHA:449280
Poliomyelitis	Respiratory failure requiring assisted ventilation, Respiratory failure, Stiff neck, Abnormal mot...	ORPHA:2912
Duane-Radial Ray Syndrome	Aganglionic megacolon, Fused cervical vertebrae, Spina bifida occulta, Shoulder dislocation, Scol...	OMIM:607323
Harrod Syndrome	Joint hypermobility, Scoliosis, Abnormal shoulder morphology, Kyphosis	ORPHA:2115
Combined Oxidative Phosphorylation Deficiency 37	Respiratory insufficiency, Respiratory failure, Optic atrophy	OMIM:618329
Costello Syndrome	Limited elbow movement, Barrel-shaped chest, Respiratory insufficiency, Pectus carinatum, Hyperex...	OMIM:218040
Osteogenesis Imperfecta, Type Iv	Femoral bowing present at birth, straightening with time, Scoliosis, Kyphosis, Biconcave flattene...	OMIM:166220
Spondyloepimetaphyseal Dysplasia, Genevieve Type	Carpal bone hypoplasia, Advanced ossification of carpal bones, Irregular epiphyses, Small epiphys...	OMIM:610442
Odontochondrodysplasia 2 With Hearing Loss And Diabetes	Clinodactyly of the 5th finger, Cone-shaped epiphyses of the phalanges of the hand, Scoliosis, La...	OMIM:619269
Glycogen Storage Disease Due To Acid Maltase Deficiency	Respiratory insufficiency, Scoliosis, Hyperlordosis, Respiratory insufficiency due to muscle weak...	ORPHA:365
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome	Scoliosis, Camptodactyly, Kyphosis, Flexion contracture of finger, Abnormal sensory nerve conduct...	ORPHA:88628
Arthrogryposis, Distal, Type 4	Osteopenia, Camptodactyly of 2nd-5th fingers, Scoliosis, Camptodactyly, Kyphosis, Lumbar scoliosi...	OMIM:609128
Plaa-Associated Neurodevelopmental Disorder	Optic atrophy, Respiratory insufficiency, Pectus carinatum, Hyperextensibility of the finger join...	ORPHA:521426
Shashi-Pena Syndrome	Cervical C2/C3 vertebral fusion, Scoliosis, Osteoporosis, Kyphosis, Accelerated skeletal maturation	OMIM:617190
Zimmermann-Laband Syndrome 2	Short neck, Kyphosis	OMIM:616455
Muscular Dystrophy, Congenital, With Or Without Seizures	Respiratory failure	OMIM:620166
Pneumocystosis	Respiratory failure requiring assisted ventilation, Respiratory failure, Respiratory insufficiency	ORPHA:723
Oculocerebrocutaneous Syndrome	Finger syndactyly, Missing ribs, Abnormal rib morphology, Congenital hip dislocation, Aplasia/Hyp...	ORPHA:1647
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome	Scoliosis, Kyphosis, Hip dislocation	ORPHA:464282
Chromosome 8Q22.1 Duplication Syndrome	Cubitus valgus, Cervical C2/C3 vertebral fusion, Genu recurvatum, Limitation of joint mobility, J...	OMIM:151200
Snakebite Envenomation	Respiratory failure	ORPHA:449285
2P15P16.1 Microdeletion Syndrome	Optic atrophy, Optic nerve hypoplasia, Scoliosis, Enlarged thorax, Facial palsy, Pectus excavatum...	ORPHA:261349
Ellis-Van Creveld Syndrome	Genu valgum, Narrow chest, Pectus carinatum, Hypoplastic iliac wing, Short ribs, Short long bone,...	OMIM:225500
Baralle-Macken Syndrome	Kyphosis	OMIM:619255
Nephronophthisis 2	Respiratory insufficiency, Respiratory failure	OMIM:602088
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly	Respiratory failure, Death in childhood	OMIM:619847
Stapes Ankylosis With Broad Thumbs And Toes	Proximal/middle symphalangism of 5th finger, Fused cervical vertebrae	OMIM:184460
Progressive Non-Infectious Anterior Vertebral Fusion	Spinal rigidity, Abnormal intervertebral disk morphology, Abnormality of the vertebral column, Bo...	ORPHA:2062
Ectodermal Dysplasia-Sensorineural Deafness Syndrome	Camptodactyly of finger, Scoliosis, Kyphosis, Joint contracture of the 5th finger	ORPHA:1883
Niemann-Pick Disease, Type C2	Death in childhood, Respiratory insufficiency, Death in infancy, Respiratory failure, Neonatal re...	OMIM:607625
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies	Optic atrophy, Respiratory insufficiency, Pectus carinatum, Kyphosis, Contractures of the large j...	OMIM:617527
Rajab Interstitial Lung Disease With Brain Calcifications 1	Respiratory insufficiency, Respiratory failure, Scoliosis, Pectus excavatum	OMIM:613658
Sifrim-Hitz-Weiss Syndrome	Wormian bones, Short clavicles, Fused cervical vertebrae, Flat acetabular roof	OMIM:617159
Osteopetrosis, Autosomal Recessive 7	Optic atrophy, Femur fracture, Osteopetrosis, Death in childhood, Optic nerve compression, Death ...	OMIM:612301
Urban-Rogers-Meyer Syndrome	Flexion contracture of toe, Osteoporosis, Kyphosis, Camptodactyly of finger, Short neck, Recurren...	ORPHA:3409
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome	Cervical C2/C3 vertebral fusion	ORPHA:370010
Fliedner-Zweier Syndrome	Joint hypermobility, Scoliosis, Pectus excavatum, Kyphosis	OMIM:620511
Deafness-Lymphedema-Leukemia Syndrome	Respiratory failure	ORPHA:3226
Distal 16P11.2 Microdeletion Syndrome	Aganglionic megacolon, Kyphosis	ORPHA:261222
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency	Optic atrophy, Genu valgum, Pectus carinatum, Scoliosis, Pectus excavatum, Kyphosis, Osteoporosis...	ORPHA:394
Sacral Agenesis With Vertebral Anomalies	Abnormal vertebral morphology, Absence of the sacrum, Neonatal death, Vertebral clefting	OMIM:615709
Schaaf-Yang Syndrome	Scoliosis, Camptodactyly, Kyphosis, Flexion contracture, Arthrogryposis multiplex congenita	OMIM:615547
Apert Syndrome	Respiratory insufficiency, Optic atrophy, Vertebral segmentation defect, Cervical C5/C6 vertebrae...	ORPHA:87
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1	Knee flexion contracture, Kyphosis, Thoracic scoliosis	OMIM:603387
Bickerstaff Brainstem Encephalitis	Respiratory failure requiring assisted ventilation, Abnormal cranial nerve morphology, Facial pal...	ORPHA:79138
Boutonneuse Fever	Respiratory failure	ORPHA:83313
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities	Optic atrophy, Genu valgum, Scoliosis, Elbow flexion contracture, Kyphosis, Hip contracture, Fing...	OMIM:618493
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome	Scoliosis, 2-3 toe syndactyly, Lumbar hyperlordosis, Equinus calcaneus	ORPHA:522077
Flynn-Aird Syndrome	Joint stiffness, Scoliosis, Kyphosis	ORPHA:2047
Avian Influenza	Respiratory failure, Miscarriage	ORPHA:454836
Asbestos Intoxication	Respiratory failure, Clubbing of fingers	ORPHA:2302
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome	Asymmetry of the thorax, Scoliosis, Pectus excavatum, Kyphosis, Genu varum	ORPHA:1969
Acro-Renal-Ocular Syndrome	Aganglionic megacolon, Vertebral segmentation defect, Optic disc coloboma, Vertebral fusion	ORPHA:959
Leigh Syndrome	Optic atrophy, Respiratory failure, Multiple joint contractures	ORPHA:506
Vater/Vacterl Association	Hypoplasia of the radius, Preaxial polydactyly, Abnormal vertebral morphology, Triphalangeal thum...	OMIM:192350
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities	Respiratory failure, Limb joint contracture	OMIM:620327
Trisomy 1Q	Short thorax, Abnormal rib morphology, Arachnodactyly, Camptodactyly of finger, Preaxial hand pol...	ORPHA:261344
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome	Respiratory insufficiency, Respiratory failure	OMIM:613845
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1	Respiratory failure, Death in childhood	OMIM:617186
4Q21 Microdeletion Syndrome	Short neck, Scoliosis, Kyphosis	ORPHA:238750
Geleophysic Dysplasia 3	Limited elbow movement, Epiphyseal dysplasia, Brachydactyly, Limited wrist movement, Respiratory ...	OMIM:617809
Mayer-Rokitansky-Küster-Hauser Syndrome	Abnormal sacrum morphology, Vertebral segmentation defect, Vertebral fusion, Abnormal form of the...	ORPHA:3109
Paget Disease Of Bone 5, Juvenile-Onset	Osteopenia, Barrel-shaped chest, Increased bone mineral density, Osteoporosis, Kyphosis, Ankylosi...	OMIM:239000
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Optic atrophy, Clinodactyly of the 5th finger, Scoliosis, Syndactyly, Hip dysplasia, Lumbar hyper...	OMIM:616975
Primary Ciliary Dyskinesia	Respiratory failure, Neonatal respiratory distress, Clubbing	ORPHA:244
Chromosome 3Q13.31 Deletion Syndrome	Kyphosis	OMIM:615433
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome	Scoliosis, Vertebral segmentation defect, Synostosis of carpal bones, Kyphosis, Joint stiffness, ...	ORPHA:1005
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly	Scoliosis, Scapular winging, Pectus excavatum, Kyphosis	OMIM:617061
Idiopathic Pulmonary Hemosiderosis	Respiratory failure	ORPHA:99931
X-Linked Intellectual Disability, Cabezas Type	Cubitus valgus, Scoliosis, Kyphosis, Camptodactyly of finger, Joint hypermobility, Short neck, Do...	ORPHA:85293
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome	Narrow chest, Abnormal form of the vertebral bodies, Scoliosis, Pectus excavatum, Kyphosis, Poste...	ORPHA:3042
Noonan Syndrome 14	Limited elbow extension, Cubitus valgus, Pectus carinatum, Scapular winging, Pectus excavatum, Ky...	OMIM:619745
Acute Lung Injury	Respiratory failure	ORPHA:178320
Adult Acute Respiratory Distress Syndrome	Respiratory failure	ORPHA:70578
Combined Oxidative Phosphorylation Defect Type 23	Respiratory failure	ORPHA:444013
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria	Metaphyseal enchondromatosis, Metaphyseal irregularity, Metaphyseal chondromatosis of radius, Gen...	ORPHA:99646
Iniencephaly	Rocker bottom foot, Hyperlordosis, Absent vertebra	ORPHA:63259
Stickler Syndrome	Genu valgum, Abnormal diaphysis morphology, Spondylolisthesis, Joint dislocation, Abnormal form o...	ORPHA:828
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion	Kyphoscoliosis, Genu valgum, Abnormal tibia morphology, Scoliosis, Hyperlordosis, Pectus excavatum	ORPHA:363700
Surfactant Metabolism Dysfunction, Pulmonary, 3	Clubbing, Death in infancy, Neonatal death, Respiratory failure, Neonatal respiratory distress	OMIM:610921
Mitochondrial Complex I Deficiency, Nuclear Type 1	Respiratory insufficiency, Optic neuropathy, Death in infancy, Respiratory failure, Optic disc pa...	OMIM:252010
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3	Sacral dimple, Scoliosis, Prominent fingertip pads, Hyperlordosis, Long fingers, Short neck, Tape...	OMIM:619950
Autoinflammation With Pulmonary And Cutaneous Vasculitis	Respiratory failure	OMIM:620296
Lethal Acantholytic Erosive Disorder	Clinodactyly of the 5th finger, 4-5 finger syndactyly, Camptodactyly of toe, 2-3 finger syndactyl...	ORPHA:158687
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome	Abnormal clavicle morphology, Tarsal synostosis, Short thorax, Wide anterior fontanel, Delayed cr...	ORPHA:85199
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome	Triphalangeal thumb, Lumbar hyperlordosis, Contracture of the proximal interphalangeal joint of t...	ORPHA:2232
Marinesco-Sjogren Syndrome	Scoliosis, Cubitus valgus, Flexion contracture, Kyphosis	OMIM:248800
Cohen Syndrome	Optic atrophy, Genu valgum, Cubitus valgus, Scoliosis, Pectus excavatum, Kyphosis, Joint hypermob...	ORPHA:193
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome	Hyperlordosis, Scapular winging, Clinodactyly of the 2nd finger, Clinodactyly of the 4th finger	ORPHA:73223
Mitochondrial Trifunctional Protein Deficiency 1	Respiratory insufficiency, Respiratory failure	OMIM:609015
Classical-Like Ehlers-Danlos Syndrome Type 2	Kyphoscoliosis, Osteopenia, Sacral dimple, Joint dislocation, Shoulder dislocation, Knee dislocat...	ORPHA:536532
Pontocerebellar Hypoplasia, Type 17	Respiratory insufficiency, Kyphosis	OMIM:619909
Multiple Endocrine Neoplasia Type 2	Kyphoscoliosis, Hyperlordosis, Aganglionic megacolon, Ganglioneuromatosis	ORPHA:653
Schinzel-Giedion Midface Retraction Syndrome	Long clavicles, Short 1st metacarpal, Wide distal femoral metaphysis, Wormian bones, Tibial bowin...	OMIM:269150
Mitochondrial Trifunctional Protein Deficiency	Respiratory insufficiency, Respiratory failure, Equinus calcaneus	ORPHA:746
Abetalipoproteinemia	Kyphoscoliosis, Respiratory failure	ORPHA:14
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Hip subluxation, Sacral dimple, Clinodactyly of the 5th finger, Multiple joint dislocation, Hyper...	OMIM:619503
Distal Triplication 15Q	Abnormal sternum morphology, Scoliosis, Camptodactyly, Kyphosis, Flexion contracture, Craniosynos...	ORPHA:314588
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type	Joint hypermobility, Kyphosis	OMIM:300354
Williams Syndrome	Sacral dimple, Genu valgum, Clinodactyly of the 5th finger, Spina bifida occulta, Abnormal form o...	ORPHA:904
Mucolipidosis Type Ii	Respiratory failure requiring assisted ventilation, Narrow chest, Limited wrist movement, Limitat...	ORPHA:576
Marshall-Smith Syndrome	Large sternal ossification centers, Kyphoscoliosis, Atlantoaxial dislocation, Death in childhood,...	OMIM:602535
Listeriosis	Respiratory failure, Back pain, Miscarriage, Septic arthritis	ORPHA:533
Apert Syndrome	Limited elbow movement, Lambdoidal craniosynostosis, Delayed epiphyseal ossification, Pectus cari...	OMIM:101200
Pseudoxanthoma Elasticum, Forme Fruste	Abnormal sternum morphology, Scoliosis, Kyphosis	OMIM:177850
Staphylococcal Necrotizing Pneumonia	Respiratory failure	ORPHA:36238
Thrombocytopenia-Absent Radius Syndrome	Lateral clavicle hook, Carpal bone hypoplasia, Abnormal shoulder morphology, Fused cervical verte...	OMIM:274000
Lipomatosis, Multiple Symmetric, With Or Without Axonal Peripheral Neuropathy	Kyphosis	OMIM:151800
Mucopolysaccharidosis Type 3	Abnormal clavicle morphology, Optic atrophy, Genu valgum, Abnormal form of the vertebral bodies, ...	ORPHA:581
Weaver Syndrome	Limited elbow extension, Scoliosis, Short ribs, Limited knee extension, Kyphosis, Camptodactyly, ...	OMIM:277590
Oculocerebrorenal Syndrome Of Lowe	Abnormal metaphysis morphology, Genu valgum, Respiratory insufficiency, Arthritis, Scoliosis, Abn...	ORPHA:534
Microphthalmia, Syndromic 1	Kyphoscoliosis, Aganglionic megacolon, Radial deviation of finger, Narrow chest, Short clavicles,...	OMIM:309800
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome	Scoliosis, Joint contracture, Osteoporosis, Kyphosis	OMIM:615381
Monosomy 9P	Proximal placement of thumb, Abnormality of the vertebral column, Scoliosis, Postaxial hand polyd...	ORPHA:261112
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Respiratory insufficiency, Respiratory failure, Death in childhood, Pectus excavatum	OMIM:618278
Car T Cell Therapy-Associated Cytokine Release Syndrome	Respiratory failure	ORPHA:542323
Duane Retraction Syndrome	Spina bifida occulta, Abnormal form of the vertebral bodies, Camptodactyly, Short neck, Abnormal ...	ORPHA:233
Acute Interstitial Pneumonia	Respiratory failure	ORPHA:79126
Smith-Lemli-Opitz Syndrome	Optic atrophy, Aganglionic megacolon, Proximal placement of thumb, Abnormal metacarpal morphology...	ORPHA:818
3-Methylglutaconic Aciduria Type 7	Respiratory failure	ORPHA:445038
S-Adenosylhomocysteine Hydrolase Deficiency	Respiratory failure	ORPHA:88618
Micro Syndrome	Optic atrophy, Joint stiffness, Scoliosis, Kyphosis	ORPHA:2510
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset	Respiratory failure requiring assisted ventilation, Respiratory failure, Respiratory insufficienc...	ORPHA:308552
Osteogenesis Imperfecta, Type I	Femoral bowing, Biconcave flattened vertebrae, Hip dysplasia, Wormian bones, Finger joint hypermo...	OMIM:166200
Trisomy 9P	Short neck, Scoliosis, Sacral dimple, Kyphosis	ORPHA:236
Frontometaphyseal Dysplasia 2	Fused cervical vertebrae, Dislocated radial head, Scoliosis, Pectus excavatum, Camptodactyly, Con...	OMIM:617137
Hurler Syndrome	Short clavicles, Kyphosis, Biconcave vertebral bodies, Short neck, Joint stiffness, Hypoplasia of...	OMIM:607014
Congenital Heart Defects And Skeletal Malformations Syndrome	Scoliosis, Pectus excavatum, Camptodactyly, Kyphosis, Joint hypermobility	OMIM:617602
Frank-Ter Haar Syndrome	Kyphoscoliosis, Osteopenia, Broad clavicles, Wide anterior fontanel, Wormian bones, Delayed crani...	OMIM:249420
Congenital Disorder Of Glycosylation, Type Il	Short neck, Delayed skeletal maturation, Kyphosis, Hip dislocation	OMIM:608776
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction	Contracture of the proximal interphalangeal joint of the 4th finger, Scoliosis, Hemivertebrae, Ky...	OMIM:618223
Cowden Syndrome 5	Scoliosis, Pectus excavatum, Kyphosis	OMIM:615108
Marfanoid-Progeroid-Lipodystrophy Syndrome	Narrow chest, Hyperextensibility of the finger joints, Scapular winging, Pectus excavatum, Kyphos...	OMIM:616914
Hurler-Scheie Syndrome	Scoliosis, Hand pain, Kyphosis, Joint stiffness, Camptodactyly of finger, Contracture of the dist...	OMIM:607015
Pelizaeus-Merzbacher Disease, Connatal Form	Respiratory failure	ORPHA:280210
Amyotrophic Lateral Sclerosis	Respiratory failure	ORPHA:803
Short-Rib Thoracic Dysplasia 15 With Polydactyly	Aplasia of the epiglottis, Narrow chest, Short clavicles, Short ribs, Short long bone, Postaxial ...	OMIM:617088
15Q24 Microdeletion Syndrome	Joint hypermobility, Scoliosis, Kyphosis	ORPHA:94065
Craniorachischisis	Bifid sternum	ORPHA:63260
Peripartum Cardiomyopathy	Respiratory failure	ORPHA:563
Basel-Vanagaite-Smirin-Yosef Syndrome	Pectus carinatum, Scoliosis, Kyphosis	OMIM:616449
Mercury Poisoning	Respiratory failure	ORPHA:330021
Mucopolysaccharidosis, Type Ii	Tracheobronchomalacia, Kyphosis, Papilledema, Flexion contracture, Short neck	OMIM:309900
X-Linked Intellectual Disability Due To Gria3 Mutations	Joint hypermobility, Scoliosis, Kyphosis, Genu recurvatum	ORPHA:364028
Cowden Syndrome 6	Scoliosis, Pectus excavatum, Kyphosis	OMIM:615109
19P13.12 Microdeletion Syndrome	Scoliosis, Kyphosis, Short neck, Craniosynostosis, Arthrogryposis multiplex congenita	ORPHA:254346
Chops Syndrome	Optic atrophy, Cervical C2/C3 vertebral fusion, Tracheomalacia	OMIM:616368
2Q31.1 Microdeletion Syndrome	Scoliosis, Vertebral segmentation defect, Kyphosis, Prominent metopic ridge, Camptodactyly of fin...	ORPHA:251014
Emanuel Syndrome	Sacral dimple, Scoliosis, Kyphosis, Congenital hip dislocation, Joint contracture	OMIM:609029
Foxg1 Syndrome Due To 14Q12 Microdeletion	Scoliosis, Kyphosis, Prominent metopic ridge	ORPHA:261144
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4	Bicoronal synostosis, Scoliosis, Kyphosis, Camptodactyly of finger, Joint hypermobility	OMIM:619951
Intellectual Developmental Disorder, X-Linked, Syndromic 33	Osteopenia, Sacral dimple, Prominent protruding coccyx, Joint hypermobility, Scoliosis, Pectus ex...	OMIM:300966
Charge Syndrome	Optic atrophy, Polydactyly, Abnormal tibia morphology, Clinodactyly of the 5th finger, Abnormal c...	ORPHA:138
Nijmegen Breakage Syndrome	Respiratory failure, Short neck	ORPHA:647
Brain-Lung-Thyroid Syndrome	Respiratory failure, Neonatal respiratory distress	ORPHA:209905
Lenz-Majewski Hyperostotic Dwarfism	Osteopetrosis, Increased bone mineral density, Scoliosis, Delayed cranial suture closure, Facial ...	ORPHA:2658
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Ankle flexion contracture, Scoliosis, Pectus excavatum, Kyphosis, Flexion contracture of finger, ...	ORPHA:464311
Thakker-Donnai Syndrome	Short neck, Hemivertebrae, Cervical C2/C3 vertebral fusion	ORPHA:1780
Hajdu-Cheney Syndrome	Osteopenia, Bone pain, Pectus carinatum, Scoliosis, Wormian bones, Decreased skull ossification, ...	ORPHA:955
Cleft Palate-Congenital Heart Defect-Intellectual Disability Syndrome Due To 15Q14 Microdeletion	Scoliosis, Kyphosis	ORPHA:261190
Ectodermal Dysplasia, Sensorineural Hearing Loss, And Distinctive Facial Features	Pectus excavatum, Kyphosis	OMIM:609944
Surfactant Metabolism Dysfunction, Pulmonary, 2	Respiratory insufficiency, Respiratory failure, Clubbing	OMIM:610913
Cockayne Syndrome Type 2	Scoliosis, Flexion contracture, Kyphosis	ORPHA:90322
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9	Respiratory failure	OMIM:616538
Megalocornea-Intellectual Disability Syndrome	Osteopenia, Scoliosis, Kyphosis, Joint hypermobility, Genu varum	ORPHA:2479
16Q24.3 Microdeletion Syndrome	Optic nerve hypoplasia, Scoliosis, Kyphosis	ORPHA:261250
Hemorrhagic Fever-Renal Syndrome	Respiratory failure, Back pain	ORPHA:340
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome	Scoliosis, Pectus excavatum, Kyphosis	ORPHA:476126
Marden-Walker Syndrome	Abnormal form of the vertebral bodies, Pectus carinatum, Scoliosis, Pectus excavatum, Kyphosis, J...	ORPHA:2461
Pelger-Huet Anomaly	Kyphosis	OMIM:169400
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Scoliosis, Kyphosis	ORPHA:404440
Cowden Syndrome 1	Scoliosis, Pectus excavatum, Kyphosis	OMIM:158350
Pagod Syndrome	Abnormal clavicle morphology, Optic atrophy, Abnormal rib morphology, Death in infancy	ORPHA:991
Riddle Syndrome	Respiratory failure, Neonatal asphyxia, Arthritis	ORPHA:420741
Branchiooculofacial Syndrome	Clinodactyly of the 5th finger, Proximal placement of thumb, Hyperlordosis, Facial palsy, Elbow f...	OMIM:113620
3-Methylglutaconic Aciduria, Type Viii	Respiratory failure, Respiratory arrest, Neonatal death, Death in infancy	OMIM:617248
Fontaine Progeroid Syndrome	Respiratory insufficiency, Wide anterior fontanel, Scoliosis, Absent distal phalanges, Death in i...	OMIM:612289
Autosomal Recessive Malignant Osteopetrosis	Osteopetrosis, Reduced bone mineral density, Optic nerve compression, Narrow chest, Bone pain, Ab...	ORPHA:667
Dextrocardia	Abnormal rib morphology, Congenital hip dislocation	ORPHA:1666
Pituitary Adenoma 4, Acth-Secreting	Biconcave vertebral bodies, Vertebral compression fracture, Osteoporosis, Kyphosis	OMIM:219090
Congenital Tricuspid Valve Dysplasia	Respiratory failure requiring assisted ventilation, Respiratory failure	ORPHA:555874
Autosomal Recessive Ataxia, Beauce Type	Scoliosis, Kyphosis, Ankle clonus	ORPHA:88644
Dyrk1A-Related Intellectual Disability Syndrome	Multiple joint contractures, Scoliosis, Pectus excavatum, Kyphosis, Abnormality of the cervical s...	ORPHA:464306
Spondyloarthropathy, Susceptibility To, 1	Hip osteoarthritis, Kyphosis, Back pain, Sacroiliac arthritis, Enthesitis, Oligoarthritis	OMIM:106300
Fucosidosis	Anterior beaking of lumbar vertebrae, Kyphosis	ORPHA:349
Mgat2-Cdg	Osteopenia, Scoliosis, Pectus excavatum, Kyphosis	ORPHA:79329
Acth-Independent Macronodular Adrenal Hyperplasia	Osteopenia, Osteoporosis, Kyphosis	OMIM:219080
Lowe Oculocerebrorenal Syndrome	Wrist swelling, Joint contracture of the hand, Genu valgum, Scoliosis, Finger swelling, Kyphosis,...	OMIM:309000
Pigmented Nodular Adrenocortical Disease, Primary, 2	Osteopenia, Osteoporosis, Kyphosis	OMIM:610475
Basel-Vanagaite-Smirin-Yosef Syndrome	Pectus carinatum, Scoliosis, Contracture of the proximal interphalangeal joint of the 3rd finger,...	ORPHA:464738
Neurofacioskeletal Syndrome With Or Without Renal Agenesis	Genu valgum, Scoliosis, Elbow flexion contracture, Pectus excavatum, Kyphosis, Hip contracture, K...	OMIM:619194
Malignant Atrophic Papulosis	Respiratory failure	ORPHA:679
Postencephalitic Parkinsonism	Camptocormia, Kyphosis	ORPHA:97349
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia	Scoliosis, Neonatal respiratory distress, Death in childhood, Kyphosis	OMIM:619005
Rett Syndrome	Scoliosis, Kyphosis	OMIM:312750
Microphthalmia With Linear Skin Defects Syndrome	Respiratory failure, Sacral dimple	ORPHA:2556
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia	Osteopenia, Bicoronal synostosis, Scoliosis, Osteoporosis, Kyphosis, Joint hypermobility	OMIM:619718
Gastrointestinal Defects And Immunodeficiency Syndrome 2	Optic atrophy, Kyphosis, Knee flexion contracture	OMIM:619708
Chromosome 16P13.3 Duplication Syndrome	Sacral dimple, Tracheobronchomalacia, Pectus excavatum, Camptodactyly, Cervical C5/C6 vertebrae f...	OMIM:613458
Steinert Myotonic Dystrophy	Respiratory failure requiring assisted ventilation, Respiratory insufficiency, Facial diplegia, R...	ORPHA:273
Aspartylglucosaminuria	Beaking of vertebral bodies, Spondylolysis, Spondylolisthesis, Scoliosis, Kyphosis, Platyspondyly	OMIM:208400
Mitochondrial Complex I Deficiency, Nuclear Type 32	Respiratory failure, Death in childhood	OMIM:618252
Trisomy 18	Abnormal hip bone morphology, Postaxial hand polydactyly, Abnormal rib morphology, Deviation of f...	ORPHA:3380
Pulmonary Alveolar Microlithiasis	Respiratory insufficiency, Respiratory failure, Stippled calcification in carpal bones, Clubbing ...	ORPHA:60025
Short Stature, Impaired Intellectual Development, Microcephaly, Hypotonia, And Ocular Anomalies	Bilateral camptodactyly, Scoliosis, Hip subluxation, Kyphosis	OMIM:619557
Cono-Spondylar Dysplasia	Short neck, Scoliosis, Kyphosis	ORPHA:420794
Ramon Syndrome	Juvenile rheumatoid arthritis, Scoliosis, Kyphosis, Optic disc pallor	OMIM:266270
X-Linked Intellectual Disability, Snyder Type	Kyphoscoliosis, Pectus carinatum, Pectus excavatum, Osteoporosis, Kyphosis, Camptodactyly, Recurr...	ORPHA:3063
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Abnormal vertebral morphology, Aganglionic megacolon, Abnormality of the vertebral column, Oligod...	ORPHA:2273
Congenital Disorder Of Glycosylation, Type Ia	Osteopenia, Death in childhood, Kyphosis, Death in infancy, Flexion contracture	OMIM:212065
Townes-Brocks Syndrome	Abnormal vertebral morphology, Clinodactyly of the 5th finger, Triphalangeal thumb, Absent toe, A...	ORPHA:857
Hereditary Acrokeratotic Poikiloderma	Abnormal hip bone morphology, Abnormal metacarpal morphology, Finger syndactyly, Abnormal rib mor...	ORPHA:2907
Bloom Syndrome	Respiratory failure	ORPHA:125
Chromosome Xq26.3 Duplication Syndrome	Accelerated skeletal maturation, Kyphosis	OMIM:300942
Genitopalatocardiac Syndrome	Scoliosis, Kyphosis	ORPHA:2075
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Kyphoscoliosis, Scoliosis, Hemivertebrae, Kyphosis	OMIM:301040
Elsahy-Waters Syndrome	Increased cup-to-disc ratio, Pectus excavatum, Cervical C2/C3 vertebral fusion	OMIM:211380
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion	Scoliosis, Flexion contracture, Kyphosis	ORPHA:500055
Fraser Syndrome	Finger syndactyly, Vertebral segmentation defect, Abnormal rib morphology, Death in infancy, Wide...	ORPHA:2052
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism	Kyphosis	OMIM:619244
Autosomal Recessive Spastic Paraplegia Type 35	Optic atrophy, Kyphosis, Ankle clonus	ORPHA:171629
Pigmented Nodular Adrenocortical Disease, Primary, 1	Osteopenia, Osteoporosis, Kyphosis	OMIM:610489
Intellectual Developmental Disorder, Autosomal Dominant 57	Contracture of the proximal interphalangeal joint of the 4th finger, Scoliosis, Kyphosis, Joint h...	OMIM:618050
Heterotaxy, Visceral, 1, X-Linked	Block vertebrae, Absence of the sacrum, Congenital hip dislocation	OMIM:306955
Marfan Syndrome	Osteopenia, Limited elbow movement, Reduced bone mineral density, Spondylolisthesis, Pectus carin...	ORPHA:558
Cockayne Syndrome B	Optic atrophy, Decreased nerve conduction velocity, Death in childhood, Abnormal auditory evoked ...	OMIM:133540
Intellectual Developmental Disorder, X-Linked 112	Kyphoscoliosis, Madelung deformity, Scoliosis, Kyphosis, Joint hypermobility	OMIM:301111
Magel2-Related Prader-Willi-Like Syndrome	Osteopenia, Scoliosis, Osteoporosis, Kyphosis, Flexion contracture	ORPHA:398069
Charge Syndrome	Hypoplasia of the ulna, Scoliosis, Hemivertebrae, Facial palsy, Abnormal rib morphology, Hand mon...	OMIM:214800
Wrinkly Skin Syndrome	Osteopenia, Wide anterior fontanel, Scoliosis, Delayed cranial suture closure, Scapular winging, ...	OMIM:278250
Mend Syndrome	Wide anterior fontanel, Sacral dimple, Abnormal auditory evoked potentials, Kyphosis	ORPHA:401973
Craniofacial Microsomia 1	Genu valgum, Scoliosis, Hemivertebrae, Vertebral hypoplasia, Block vertebrae, Cervical ribs	OMIM:164210
Rett Syndrome, Congenital Variant	Scoliosis, Kyphosis	OMIM:613454
Cardiofacioneurodevelopmental Syndrome	Camptodactyly, Kyphosis	OMIM:619123
Severe Generalized Junctional Epidermolysis Bullosa	Respiratory failure, Osteoporosis	ORPHA:79404
Turner Syndrome Due To Structural X Chromosome Anomalies	Osteopenia, Genu valgum, Cubitus valgus, Madelung deformity, Reduced bone mineral density, Scolio...	ORPHA:99413
Mosaic Monosomy X	Osteopenia, Genu valgum, Cubitus valgus, Madelung deformity, Reduced bone mineral density, Scolio...	ORPHA:99228
Monosomy X	Osteopenia, Genu valgum, Cubitus valgus, Madelung deformity, Reduced bone mineral density, Scolio...	ORPHA:99226
Turner Syndrome	Osteopenia, Genu valgum, Cubitus valgus, Madelung deformity, Reduced bone mineral density, Scolio...	ORPHA:881
Robinow Syndrome, Autosomal Dominant 3	Sacral dimple, Scoliosis, Camptodactyly, Kyphosis, Short neck	OMIM:616894
Prader-Willi Syndrome	Osteopenia, Genu valgum, Scoliosis, Osteoporosis, Kyphosis	OMIM:176270
Cockayne Syndrome A	Optic atrophy, Decreased nerve conduction velocity, Abnormal auditory evoked potentials, Limitati...	OMIM:216400
Cockayne Syndrome Type 3	Scoliosis, Kyphosis, Flexion contracture, Abnormality of peripheral nerve conduction, Optic disc ...	ORPHA:90324
Kindler Epidermolysis Bullosa	Short 4th metacarpal, Finger syndactyly, Abnormal rib morphology, Camptodactyly of finger, Short ...	ORPHA:2908
Nocardiosis	Respiratory failure, Osteomyelitis	ORPHA:31204
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Hip subluxation, Abnormal vertebral morphology, Cervical C2/C3 vertebral fusion, Tracheomalacia, ...	ORPHA:444077
Holt-Oram Syndrome	Limited elbow extension, Abnormal carpal morphology, Sacral dimple, 11 pairs of ribs, Narrow ches...	OMIM:142900
Niemann-Pick Disease Type C	Respiratory insufficiency, Respiratory failure	ORPHA:646
Tuberous Sclerosis Complex	Respiratory failure	ORPHA:805
Generalized Arterial Calcification Of Infancy	Stippled calcification of the elbow, Hypophosphatemic rickets, Fused cervical vertebrae, Abnormal...	ORPHA:51608
Atelis Syndrome 2	Sacral dimple, Kyphosis	OMIM:620185
Autosomal Recessive Polycystic Kidney Disease	Respiratory failure	ORPHA:731
Cockayne Syndrome	Optic atrophy, Decreased nerve conduction velocity, Scoliosis, Kyphosis, Congenital contracture, ...	ORPHA:191
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion	Osteochondrosis, Sacral dimple, Scoliosis, Pectus excavatum, Kyphosis	ORPHA:268261
Cowden Syndrome	Scoliosis, Pectus excavatum, Kyphosis	ORPHA:201
Coffin-Siris Syndrome 1	Sacral dimple, Spina bifida occulta, Dislocated radial head, Aplasia/Hypoplasia of the patella, S...	OMIM:135900
Primrose Syndrome	Genu valgum, Reduced bone mineral density, Narrow chest, Pectus excavatum, Kyphosis, Osteoporosis...	OMIM:259050
Intellectual Developmental Disorder, X-Linked, Syndromic 34	Kyphoscoliosis, Scoliosis, Kyphosis, Joint hypermobility, Synostosis of the proximal phalanx of t...	OMIM:300967
Proteus Syndrome	Abnormality of the wrist, Asymmetry of the thorax, Abnormal form of the vertebral bodies, Scolios...	ORPHA:744
Lymphedema-Distichiasis Syndrome	Kyphosis	OMIM:153400
Alstrom Syndrome	Accelerated skeletal maturation, Scoliosis, Kyphosis	OMIM:203800
Sotos Syndrome	Ankle flexion contracture, Aganglionic megacolon, Abnormal vertebral morphology, Bilateral campto...	ORPHA:821
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Genu valgum, Scoliosis, Kyphosis, Back pain, Abnormal curvature of the vertebral column, Joint hy...	OMIM:619475
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction	Scoliosis, Kyphosis	OMIM:619482
Mend Syndrome	Sacral dimple, Kyphosis	OMIM:300960
Viss Syndrome	Butterfly vertebrae, Generalized joint hypermobility, Genu valgum, Recurrent joint dislocation, P...	OMIM:619472
Neurofibromatosis Type 1	Osteopenia, Genu valgum, Scoliosis, Kyphosis, Joint stiffness, Recurrent fractures, Genu varum	ORPHA:636
Yunis-Varon Syndrome	Absent sternal ossification, Short clavicles, Flat acetabular roof, Decreased skull ossification,...	OMIM:216340
Acromegaly	Joint swelling, Spinal canal stenosis, Osteoarthritis, Kyphosis	ORPHA:963
Somatomammotropinoma	Joint swelling, Spinal canal stenosis, Osteoarthritis, Kyphosis	ORPHA:314769
17Q11 Microdeletion Syndrome	Osteopenia, Beaking of vertebral bodies T12-L3, Abnormality of the vertebral column, Scoliosis, K...	ORPHA:97685
Pmm2-Cdg	Platyspondyly, Long fingers, Kyphoscoliosis	ORPHA:79318
Alström Syndrome	Kyphosis, Lumbar scoliosis, Accelerated skeletal maturation, Thoracic scoliosis, Optic disc pallor	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 Uncx

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 Uncx.

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

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All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele	Allele Type	Produced
Uncx^{tm1(KOMP)Vlcg}	Reporter-tagged deletion allele (with selection cassette)	ES Cells

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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