Gene: Tbx6 MGI:102539

Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:

T-box 6

Synonyms:

N/A

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 Tbx6 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 Tbx6 (2 diseases)
Human diseases predicted to be associated with Tbx6 (867 diseases)

The table below shows human diseases associated to Tbx6 by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Spondylocostal Dysostosis 5		Pectus carinatum, Butterfly vertebrae, Low back pain, Missing ribs, Short neck, Supernumerary rib...	OMIM:122600
Autosomal Dominant Spondylocostal Dysostosis		Short thorax, Vertebral segmentation defect, Missing ribs, Short neck, Cleft palate, Hyperlordosi...	ORPHA:1797

The table below shows human diseases predicted to be associated to Tbx6 by phenotypic similarity.

Disease	Matching phenotypes	Source
Spondylocostal Dysostosis 2, Autosomal Recessive	Vertebral segmentation defect, Rib fusion, Short neck, Vertebral clefting, Hemivertebrae	OMIM:608681
Vertebral Fusion, Posterior Lumbosacral, With Blepharoptosis	Posterior fusion of lumbosacral vertebrae	OMIM:192800
Scheuermann Disease	Osteochondrosis, Kyphosis, Morbus Scheuermann	OMIM:181440
Spondylocostal Dysostosis 3, Autosomal Recessive	Hypoplasia of the odontoid process, Contracture of the proximal interphalangeal joint of the 2nd ...	OMIM:609813
Cervical Vertebral Dysplasia	Cervical vertebral dysplasia, Cervical vertebral facet hypoplasia, Anterior atlanto-occipital dis...	OMIM:118005
Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome	Abnormal form of the vertebral bodies, Joint stiffness, Posterior fusion of lumbosacral vertebrae...	ORPHA:2064
Spondylocostal Dysostosis 5	Pectus carinatum, Butterfly vertebrae, Low back pain, Missing ribs, Short neck, Supernumerary rib...	OMIM:122600
Microcephaly With Cervical Spine Fusion Anomalies	Spinal instability, Vertebral fusion	OMIM:251250
Isolated Klippel-Feil Syndrome	Abnormality of the vertebral column, Abnormal shoulder morphology, Renal hypoplasia/aplasia, Cerv...	ORPHA:2345
Spondylocostal Dysostosis 1, Autosomal Recessive	Block vertebrae, Abnormal odontoid process morphology, Vertebral segmentation defect, Kyphoscolio...	OMIM:277300
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3	Unilateral renal agenesis, Bilateral renal agenesis, Vertebral segmentation defect, Ureteral atre...	OMIM:618845
Spondylocostal Dysostosis 6, Autosomal Recessive	Cervical kyphosis, Spinal canal stenosis, Butterfly vertebrae, Hemivertebrae, Scoliosis	OMIM:616566
Dwarfism With Tall Vertebrae	Increased vertebral height	OMIM:126950
Klippel-Feil Syndrome 3, Autosomal Dominant	Cervical C5/C6 vertebrae fusion, Cervical C3/C4 vertebral fusion, Thoracic scoliosis	OMIM:613702
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 2	Chronic kidney disease, Unilateral renal agenesis, Renal hypoplasia, Narrow chest, Anteriorly pla...	OMIM:617661
Diaphanospondylodysostosis	Enlarged thorax, Absent or minimally ossified vertebral bodies, Myelomeningocele, Missing ribs, S...	ORPHA:66637
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods	Fusion of midcervical facet joints, Widening of cervical spinal canal, Cervical vertebral bodies ...	OMIM:606842
Spondylocostal Dysostosis 4, Autosomal Recessive	Block vertebrae, Anal stenosis, Myelomeningocele, Abnormal odontoid process morphology, Bell-shap...	OMIM:613686
Multiple Synostoses Syndrome 2	Carpal synostosis, Humeroradial synostosis, Finger symphalangism, Proximal symphalangism, Vertebr...	OMIM:610017
Autosomal Dominant Spondylocostal Dysostosis	Short thorax, Vertebral segmentation defect, Missing ribs, Short neck, Cleft palate, Hyperlordosi...	ORPHA:1797
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome	Thoracic hemivertebrae, Anal atresia, Abnormal sacrum morphology, Scoliosis, Fused cervical verte...	ORPHA:1436
Klippel-Feil Syndrome 2, Autosomal Recessive	Cervical C2/C3 vertebral fusion, Short neck, Sprengel anomaly, Scoliosis, Cleft palate, Fused cer...	OMIM:214300
Cervical Rib	Cervical ribs	OMIM:117900
Second Metatarsal-Metacarpal Syndrome	Platyspondyly, Synostosis of carpals/tarsals	OMIM:269630
Christian Syndrome	Thoracic hemivertebrae, Prominent metopic ridge, Anal atresia, Scoliosis, Fused cervical vertebrae	OMIM:309620
Osteomesopyknosis	Sclerotic vertebral body, Abnormal form of the vertebral bodies, Increased bone mineral density, ...	ORPHA:2777
Familial Congenital Mirror Movements	Hypogonadotropic hypogonadism, Fused cervical vertebrae	ORPHA:238722
Microcephaly-Cervical Spine Fusion Anomalies Syndrome	Abnormal clavicle morphology, Abnormality of the ureter, Short neck, Hyperlordosis, Abnormal rib ...	ORPHA:2522
Klippel-Feil Syndrome 1, Autosomal Dominant	Unilateral renal agenesis, Cervical C2/C3 vertebral fusion, Short neck, Sprengel anomaly, Abnorma...	OMIM:118100
Wildervanck Syndrome	Fused cervical vertebrae	OMIM:314600
Autosomal Recessive Spondylocostal Dysostosis	Hypospadias, Abnormal form of the vertebral bodies, Short thorax, Umbilical hernia, Camptodactyly...	ORPHA:2311
Primary Basilar Invagination	Abnormal vertebral morphology, Abnormality of the cervical spine, Short neck	ORPHA:2285
Wildervanck Syndrome	Short neck, Meningocele, Fused cervical vertebrae	ORPHA:3456
Femoral-Facial Syndrome	Scoliosis, Long penis, Renal hypoplasia/aplasia, Vertebral segmentation defect, Rib fusion, Radio...	ORPHA:1988
Ankylosing Vertebral Hyperostosis With Tylosis	Vertebral hyperostosis	OMIM:106400
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B	Flexion contracture, Short neck, Fused thoracic vertebrae, Antecubital pterygium, Tarsal synostos...	OMIM:618469
Spondylocamptodactyly Syndrome	Platyspondyly, Scoliosis, Camptodactyly of finger	ORPHA:3180
Osteoarthritis With Mild Chondrodysplasia	Platyspondyly, Hip osteoarthritis, Schmorl's node, Joint stiffness, Knee osteoarthritis, Beaking ...	OMIM:604864
Brachyolmia, Maroteaux Type	Platyspondyly, Abnormal form of the vertebral bodies, Short thorax, Pectus excavatum, Scoliosis	ORPHA:93302
Sprengel Deformity	Rib segmentation abnormalities, Sprengel anomaly, Hemivertebrae, Spina bifida occulta, Cervical s...	OMIM:184400
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects	Unilateral renal agenesis, Renal agenesis, Butterfly vertebrae, Submucous cleft hard palate, Trac...	OMIM:619227
Poland Syndrome	Rib fusion, Sprengel anomaly, Hemivertebrae, Short ribs	OMIM:173800
Spondyloepiphyseal Dysplasia Tarda, Kohn Type	Platyspondyly, Abnormal vertebral morphology, Abnormality of the ankle, Abnormality of the knee, ...	ORPHA:163665
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type	Platyspondyly, Pectus carinatum, Lumbar hyperlordosis, Thoracic kyphosis, Genu valgum, Interverte...	OMIM:609223
Becker Nevus Syndrome	Pectus carinatum, Rib fusion, Supernumerary ribs, Pectus excavatum, Spina bifida occulta, Scolios...	ORPHA:64755
Vertebral Hypoplasia With Lumbar Kyphosis	Lumbar kyphosis, Vertebral hypoplasia	OMIM:192900
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome	Pectus carinatum, Delayed skeletal maturation, Radioulnar synostosis, Abnormal rib morphology, Sc...	ORPHA:3268
Neural Tube Defects, Folate-Sensitive	Spinal dysraphism	OMIM:601634
Kniest Dysplasia	Delayed epiphyseal ossification, Hypoplasia of the odontoid process, Abnormal joint morphology, B...	ORPHA:485
Autosomal Dominant Brachyolmia	Platyspondyly, Increased vertebral height, Short thorax, Kyphoscoliosis	ORPHA:93304
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies	Unilateral renal agenesis, Renal agenesis, Abnormality of the vertebral column, Azoospermia, Spre...	OMIM:601076
Spondylosis, Cervical	Spondylolysis, Spondylolisthesis, Cervical spondylosis, Osteoarthritis, Spina bifida occulta	OMIM:184300
Braddock Syndrome	Unilateral renal agenesis, Missing ribs, Short neck, Hemivertebrae, Pectus excavatum, Scoliosis	ORPHA:52047
Spondyloepiphyseal Dysplasia, Kimberley Type	Platyspondyly, Genu valgum, Genu varum, Delayed skeletal maturation	OMIM:608361
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism	Acetabular dysplasia, Cervical C2/C3 vertebral fusion, Short neck, Thoracolumbar scoliosis, High ...	OMIM:616549
Fliedner-Zweier Syndrome	Unilateral renal agenesis, Multicystic kidney dysplasia, Joint hypermobility, Hydronephrosis, Ana...	OMIM:620511
Acrodysplasia Scoliosis	Spina bifida occulta, Scoliosis, Vertebral segmentation defect	ORPHA:2956
Spondyloepiphyseal Dysplasia, Stanescu Type	Platyspondyly, Vertebral wedging, Stiff neck, Joint stiffness, Kyphoscoliosis, Beaking of vertebr...	OMIM:616583
Avascular Necrosis Of Femoral Head, Primary, 2	Platyspondyly, Avascular necrosis of the capital femoral epiphysis	OMIM:617383
Frontometaphyseal Dysplasia 1	Partial fusion of carpals, Carpal synostosis, Genu valgum, Limited elbow movement, Dislocated rad...	OMIM:305620
Lamb-Shaffer Syndrome	Thoracic kyphosis, Scoliosis, Fused cervical vertebrae	ORPHA:530983
Nephronophthisis 20	Nephronophthisis, Stage 5 chronic kidney disease, Renal insufficiency, Vesicoureteral reflux, Ren...	OMIM:617271
Brachyolmia Type 1, Hobaek Type	Platyspondyly, Osteopenia, Pectus carinatum, Sclerotic foci of metaphyses of the elbow, Kyphosis,...	OMIM:271530
Verheij Syndrome	Renal hypoplasia, Branchial cyst, Renal agenesis, Joint hypermobility, Renal cyst, Short neck, He...	OMIM:615583
Spondyloepiphyseal Dysplasia Tarda With Impaired Intellectual Development	Platyspondyly, Anterior beaking of lumbar vertebrae	OMIM:271620
Ehlers-Danlos Syndrome, Classic-Like, 2	Osteopenia, Umbilical hernia, Knee dislocation, Shoulder dislocation, Thoracic scoliosis, Cervica...	OMIM:618000
Epiphyseal Dysplasia, Multiple, 7	Platyspondyly, Vertebral wedging, Advanced ossification of carpal bones, Flat acetabular roof, Ge...	OMIM:617719
Brachyolmia Type 1, Toledo Type	Abnormal odontoid process morphology, Lumbar hyperlordosis, Squared-off platyspondyly, Precocious...	OMIM:271630
Spondyloepimetaphyseal Dysplasia, Di Rocco Type	Platyspondyly, Delayed skeletal maturation, Irregular acetabular roof, Reduced bone mineral densi...	OMIM:617974
Ring Chromosome 21 Syndrome	Thoracic hemivertebrae, Azoospermia, Abnormal thorax morphology, Amenorrhea, Fused thoracic verte...	ORPHA:1445
Chopra-Amiel-Gordon Syndrome	Unilateral renal agenesis, Delayed skeletal maturation, Joint hypermobility, Scoliosis, Cleft palate	OMIM:619504
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2	Renal agenesis, Azoospermia, Vertebral segmentation defect, Short neck, Abnormal rib morphology, ...	ORPHA:2578
Galactosialidosis	Abnormal vertebral morphology, Abnormality of the vertebral column	ORPHA:351
Thrombocytopenia-Absent Radius Syndrome	Patellar dislocation, Cervical ribs, Horseshoe kidney, Aplasia/Hypoplasia of the patella, Abnorma...	ORPHA:3320
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies	Thin ribs, Block vertebrae, Supernumerary vertebrae, Short ribs, Hydronephrosis, Missing ribs, Sh...	OMIM:271520
Congenital Absence Of Upper Arm And Forearm With Hand Present	Renal agenesis, Abnormal thorax morphology, Abnormality of the vertebral column, Cleft palate	ORPHA:294975
Dysspondyloenchondromatosis	Platyspondyly, Anisospondyly, Joint dislocation, Delayed skeletal maturation, Genu valgum, Kyphos...	ORPHA:85198
Houge-Janssens Syndrome 2	Unilateral renal agenesis, Joint hypermobility, Hydrocephalus, Pectus excavatum, Scoliosis, Promi...	OMIM:616362
Kyphomelic Dysplasia	Narrow chest, Limitation of joint mobility, Abnormal form of the vertebral bodies, Joint stiffnes...	ORPHA:1801
Keratoconus Posticus Circumscriptus	Recurrent urinary tract infections, Vesicoureteral reflux, Limited elbow extension and supination...	OMIM:244600
Mayer-Rokitansky-Küster-Hauser Syndrome	Unilateral renal agenesis, Abnormal form of the vertebral bodies, Horseshoe kidney, Vertebral seg...	ORPHA:3109
Multiple Pterygium Syndrome, Escobar Variant	Intercrural pterygium, Dysplastic patella, Patellar aplasia, Short neck, Thoracolumbar scoliosis,...	OMIM:265000
Spondylometaphyseal Dysplasia, Type A4	Platyspondyly, Pectus carinatum, Irregular patellae, Osteoporotic tarsals, Costochondral joint sc...	OMIM:609052
Fibrodysplasia Ossificans Progressiva	Small cervical vertebral bodies, Ectopic ossification in ligament tissue, Progressive cervical ve...	OMIM:135100
Acromesomelic Dysplasia, Maroteaux Type	Vertebral wedging, Abnormal form of the vertebral bodies, Joint stiffness, Joint hypermobility, B...	ORPHA:40
Brachyolmia Type 2	Platyspondyly	OMIM:613678
Brachydactylous Dwarfism, Mseleni Type	Platyspondyly, Osteopenia, Hip osteoarthritis, Abnormality of the ankle, Limitation of joint mobi...	ORPHA:2619
Heart Defects-Limb Shortening Syndrome	Narrow chest, Abnormal form of the vertebral bodies, Accelerated skeletal maturation, Abnormal ri...	ORPHA:1354
Stapes Ankylosis With Broad Thumbs And Toes	Proximal/middle symphalangism of 5th finger, Fused cervical vertebrae	OMIM:184460
Brachydactyly, Type B1	Joint contracture of the hand, Hypoplastic sacrum, Delayed cranial suture closure, Camptodactyly,...	OMIM:113000
Spondylometaphyseal Dysplasia, A4 Type	Platyspondyly, Limitation of joint mobility, Flared, irregular rib ends	ORPHA:168555
Developmental And Speech Delay Due To Sox5 Deficiency	Narrow palate, Pectus carinatum, Exaggerated median tongue furrow, Lumbar hyperlordosis, Butterfl...	ORPHA:313892
Sifrim-Hitz-Weiss Syndrome	Bifid uvula, Anteriorly placed anus, Vesicoureteral reflux, Renal insufficiency, Short clavicles,...	OMIM:617159
Neurogenic Thoracic Outlet Syndrome	Abnormal rib morphology	ORPHA:100073
Epiphyseal Dysplasia, Multiple, With Severe Proximal Femoral Dysplasia	Platyspondyly, Genu valgum, Irregularity of vertebral bodies	OMIM:609324
Spondylometaphyseal Dysplasia, Axial	Platyspondyly, Narrow chest, Thoracic hypoplasia, Anterior rib cupping, Reduced sperm motility, S...	OMIM:602271
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome	Cervical C2/C3 vertebral fusion	ORPHA:370010
Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis	Cervical C2/C3 vertebral fusion, Camptodactyly, Joint hypermobility	OMIM:617333
Atelosteogenesis, Type I	Narrow chest, Elbow dislocation, Thoracic hypoplasia, Knee dislocation, Thoracic platyspondyly, 1...	OMIM:108720
Mosaic Trisomy 20	Narrow chest, Spinal canal stenosis, Horseshoe kidney, Vertebral segmentation defect, Down-slopin...	ORPHA:1724
Spondylometaphyseal Dysplasia, X-Linked	Platyspondyly, Pectus carinatum, Sclerosis of skull base, Hip contracture, Knee flexion contractu...	OMIM:313420
Cerebrofaciothoracic Dysplasia	Narrow chest, Vertebral segmentation defect, Rib fusion, Short neck, Sprengel anomaly, Hemiverteb...	ORPHA:1394
Morquio Syndrome C	Platyspondyly	OMIM:252300
Osteogenesis Imperfecta, Type Ix	Platyspondyly, Pectus carinatum, Recurrent fractures, Bowing of limbs due to multiple fractures, ...	OMIM:259440
Proximal 16P11.2 Microdeletion Syndrome	Abnormal vertebral morphology, Multicystic kidney dysplasia, Rib fusion, Craniosynostosis, Scolio...	ORPHA:261197
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A	Pectus carinatum, Popliteal pterygium, Arthrogryposis multiplex congenita, Cervical spinal canal ...	OMIM:178110
Duane-Radial Ray Syndrome	Renal hypoplasia, Anal stenosis, Renal agenesis, Horseshoe kidney, Crossed fused renal ectopia, V...	OMIM:607323
Becker Nevus Syndrome	Pectus excavatum, Scoliosis, Hemivertebrae, Cervical ribs	OMIM:604919
Congenital Disorder Of Glycosylation, Type Iig	Posterior rib gap, Osteopenia, Shallow acetabular fossae, Butterfly vertebrae, Renal insufficienc...	OMIM:611209
Autosomal Recessive Multiple Pterygium Syndrome	Axillary pterygium, Popliteal pterygium, Limitation of joint mobility, Arthrogryposis multiplex c...	ORPHA:2990
Pseudodiastrophic Dysplasia	Platyspondyly, Phalangeal dislocation, Scoliosis, Elbow dislocation	ORPHA:85174
Prune Belly Syndrome	Congenital hip dislocation, Multicystic kidney dysplasia, Hydroureter, Volvulus, Recurrent urinar...	ORPHA:2970
Fanconi Anemia, Complementation Group I	Renal hypoplasia, Horseshoe kidney, Vesicoureteral reflux, Abnormal renal morphology, Short neck,...	OMIM:609053
Endosteal Hyperostosis, Worth Type	Sclerotic vertebral body, Abnormal form of the vertebral bodies, Generalized osteosclerosis, Clav...	ORPHA:2790
Sacral Agenesis With Vertebral Anomalies	Abnormal vertebral morphology, Unilateral renal agenesis, Absence of the sacrum, Persistent cloac...	OMIM:615709
Shashi-Pena Syndrome	Unilateral renal agenesis, Cervical C2/C3 vertebral fusion, Accelerated skeletal maturation, Oste...	OMIM:617190
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Osteopenia, Broad ribs, Osteomyelitis, Joint swelling, Flaring of rib cage, Osteolysis, Fused cer...	OMIM:612852
Greenberg Dysplasia	Platyspondyly, Narrow chest, Abnormal form of the vertebral bodies, Abnormal pelvis bone ossifica...	ORPHA:1426
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris	Joint stiffness, Vesicoureteral reflux, Renal hypoplasia/aplasia, Vertebral segmentation defect, ...	ORPHA:1166
Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes	Platyspondyly, Kyphoscoliosis, Lumbar scoliosis, Secondary amenorrhea, Irregular vertebral endplates	OMIM:612847
Gorlin Syndrome	Abnormal vertebral morphology, Vertebral wedging, Abnormal rib morphology, Rib fusion, Hypogonado...	ORPHA:377
Intellectual Developmental Disorder, Autosomal Dominant 52	Pectus carinatum, Lumbar hyperlordosis, Lumbar scoliosis, Cervical C2/C3 vertebral fusion, Scapul...	OMIM:617796
Metatropic Dysplasia	Narrow chest, Hypoplastic cervical vertebrae, Abnormal form of the vertebral bodies, Abnormal enc...	ORPHA:2635
Arnold-Chiari Malformation Type I	Myelopathy, Stiff neck, Cervical C2/C3 vertebral fusion, Anteriorly placed odontoid process, Urin...	ORPHA:268882
Axial Mesodermal Dysplasia Spectrum	Abnormality of the urinary system, Abnormal form of the vertebral bodies, Abnormality of the uret...	ORPHA:1834
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type	Platyspondyly, Scoliosis, Genu varum	OMIM:618728
Frontometaphyseal Dysplasia	Joint contracture of the hand, Limited elbow movement, Sprengel anomaly, Dislocated radial head, ...	ORPHA:1826
Pyle Disease	Platyspondyly, Genu valgum, Limited elbow extension, Reduced bone mineral density, Abnormal thora...	OMIM:265900
Spinal Dysplasia, Anhalt Type	Thoracic hemivertebrae, Narrow anterio-posterior vertebral body diameter, Osteoarthritis of the s...	OMIM:601344
Osteogenesis Imperfecta, Type V	Platyspondyly, Osteopenia, Vertebral wedging, Anterior radial head dislocation, Biconcave vertebr...	OMIM:610967
Spondyloepiphyseal Dysplasia, Kimberley Type	Platyspondyly, Osteoarthritis, Short thorax	ORPHA:93283
Chromosome 8Q22.1 Duplication Syndrome	Genu recurvatum, Limitation of joint mobility, Interphalangeal joint contracture of finger, Joint...	OMIM:151200
Joubert Syndrome 18	Occipital encephalocele, Horseshoe kidney, Trident pelvis, Kyphoscoliosis, Joint hypermobility, R...	OMIM:614815
Spondyloepimetaphyseal Dysplasia, Handigodu Type	Platyspondyly, Hip osteoarthritis, Hump-shaped mound of bone in central and posterior portions of...	ORPHA:99642
Thakker-Donnai Syndrome	Communicating hydrocephalus, Cervical C2/C3 vertebral fusion, Hydronephrosis, Short neck, Tracheo...	ORPHA:1780
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies	High, narrow palate, Unilateral renal agenesis, Renal hypoplasia, Anteriorly placed anus, Joint h...	OMIM:618494
Bruck Syndrome 1	Platyspondyly, Ankle flexion contracture, Pectus carinatum, Vertebral wedging, Pterygium, Elbow f...	OMIM:259450
Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant	Platyspondyly, Pectus carinatum, Hypoplasia of the odontoid process, Lumbar hyperlordosis, Avascu...	OMIM:184100
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome	Abnormal form of the vertebral bodies, Abnormality of the humeroulnar joint, Hypogonadism, Decrea...	ORPHA:2234
Kbg Syndrome	Delayed skeletal maturation, Cervical ribs, Persistent open anterior fontanelle, Short neck, Vert...	ORPHA:2332
Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant	Platyspondyly, Premature osteoarthritis, Cleft palate	OMIM:184840
Emanuel Syndrome	Unilateral renal agenesis, Renal hypoplasia, Congenital hip dislocation, Abnormality of the ankle...	ORPHA:96170
Caudal Regression Syndrome	Aplasia/Hypoplasia of the sacrum, Renal agenesis, Abnormality of the ureter, Joint stiffness, Ren...	ORPHA:3027
Multiple Pterygium Syndrome, X-Linked	Thin ribs, Joint dislocation, Increased susceptibility to fractures, Multiple pterygia, Vertebral...	OMIM:312150
Pseudoachondroplasia	Delayed epiphyseal ossification, Hypoplasia of the odontoid process, Genu valgum, Wind-swept defo...	ORPHA:750
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome	Abnormal form of the vertebral bodies, Elbow dislocation, Hypoplastic vertebral bodies, Abnormali...	ORPHA:2916
Microcephalic Osteodysplastic Dysplasia, Saul-Wilson Type	Platyspondyly, Hypoplasia of the odontoid process, Irregularity of vertebral bodies	ORPHA:85172
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4	Unilateral renal agenesis, Camptodactyly of finger, Bicoronal synostosis, Vesicoureteral reflux, ...	OMIM:619951
Pontine Tegmental Cap Dysplasia	Rib fusion, Scoliosis, Hemivertebrae, Ankle clonus	OMIM:614688
Hypogonadism, Male, With Impaired Intellectual Development And Skeletal Anomalies	Abnormality of the cervical spine, Superior rib anomalies	OMIM:307500
Progressive Pseudorheumatoid Arthropathy Of Childhood	Joint contracture of the hand, Limitation of joint mobility, Genu valgum, Beaking of vertebral bo...	ORPHA:1159
Metatropic Dysplasia	Hypoplasia of the odontoid process, Caudal appendage, Genu valgum, Flat acetabular roof, Delayed ...	OMIM:156530
Emanuel Syndrome	Unilateral renal agenesis, Renal hypoplasia, Congenital hip dislocation, Recurrent urinary tract ...	OMIM:609029
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5	Macroglossia, Elbow contracture, Hyperlordosis, Achilles tendon contracture, Vertebral fusion, Sc...	OMIM:606612
Spondyloepimetaphyseal Dysplasia, Irapa Type	Platyspondyly, Pectus carinatum, Hypoplastic sacrum, Lumbar hyperlordosis, Genu valgum, Limited e...	OMIM:271650
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Renal hypoplasia, Hypermobility of interphalangeal joints, Renal agenesis, Thoracic hemivertebrae...	ORPHA:508498
Acropectorovertebral Dysplasia	Abnormal vertebral morphology, Spina bifida occulta at L5, Synostosis of carpal bones, Spina bifi...	OMIM:102510
Multiple Epiphyseal Dysplasia Type 5	Multiple small vertebral fractures, Ankle pain, Limited hip movement, Premature osteoarthritis, G...	ORPHA:93311
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome	Platyspondyly, Osteoporosis, Kyphosis	ORPHA:2786
Odontochondrodysplasia 1	Platyspondyly, Genu recurvatum, Pectus carinatum, Scoliosis, Biconvex vertebral bodies, Nephronop...	OMIM:184260
Multiple Pterygium Syndrome, Lethal Type	Thin ribs, Joint dislocation, Increased susceptibility to fractures, Multiple pterygia, Vertebral...	OMIM:253290
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5	Macroglossia, Exercise-induced myoglobinuria, Hyperlordosis, Achilles tendon contracture, Vertebr...	OMIM:607155
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly	Platyspondyly, Multiple small vertebral fractures, Osteoporosis of vertebrae	OMIM:156510
Microphthalmia, Syndromic 3	Butterfly vertebrae, Missing ribs, Supernumerary ribs, Rib fusion, Hypogonadotropic hypogonadism,...	OMIM:206900
Septopreoptic Holoprosencephaly	Abnormal vertebral morphology, Ethmoidal encephalocele, Anteriorly placed anus, Abnormal rib morp...	ORPHA:280195
Thoracolaryngopelvic Dysplasia	Bell-shaped thorax, Horizontal ribs, Short ribs, Irregular chondrocostal junctions, Scoliosis, Ir...	OMIM:187760
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly	Narrow chest, Acetabular spurs, Horizontal ribs, Short ribs, Trident acetabulum, Lateral clavicle...	OMIM:617405
Osteogenesis Imperfecta, Type Xv	Platyspondyly, Thin ribs, Bowing of limbs due to multiple fractures, Joint hypermobility, Scolios...	OMIM:615220
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive	Platyspondyly, Hip osteoarthritis, Osteoarthritis	OMIM:271600
Spondyloepiphyseal Dysplasia Tarda	Hypoplasia of the odontoid process, Limitation of joint mobility, Premature osteoarthritis, Barre...	ORPHA:93284
Mucopolysaccharidosis, Type Iva	Hypoplasia of the odontoid process, Genu valgum, Short neck, Anterior beaking of lumbar vertebrae...	OMIM:253000
Polycystic Liver Disease 1 With Or Without Kidney Cysts	Renal cyst, Back pain	OMIM:174050
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1	Unilateral renal agenesis, Narrow chest, Joint hypermobility, Rib fusion, Short neck, Beaking of ...	OMIM:213980
Atelosteogenesis, Type Ii	Platyspondyly, Cervical kyphosis, Thoracic hypoplasia, Lacunar halos around chondrocytes, Lumbar ...	OMIM:256050
Spondyloepiphyseal Dysplasia, Maroteaux Type	Platyspondyly, Pectus carinatum, Atlantoaxial instability, Genu valgum, Kyphoscoliosis, Short nec...	OMIM:184095
Spina Bifida-Hypospadias Syndrome	Spinal dysraphism, Spina bifida	ORPHA:3176
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type	Abnormal vertebral morphology, Limitation of joint mobility, Genu valgum, Intervertebral space na...	ORPHA:93315
Joubert Syndrome 7	Nephronophthisis, Stage 5 chronic kidney disease, Genu valgum, Encephalocele, Renal cyst, Scoliosis	OMIM:611560
Neural Tube Defects, Susceptibility To	Asymmetry of spinal facet joints, Absence of the sacrum, Myelomeningocele, Hydrocephalus, Urinary...	OMIM:182940
Diaphanospondylodysostosis	Unossified sacrum, Tracheomalacia, Thoracic hypoplasia, Nephrogenic rest, Nephroblastomatosis, Ho...	OMIM:608022
Acrodysostosis 1 With Or Without Hormone Resistance	Irregular menstruation, Unilateral renal agenesis, Spinal canal stenosis, Hypogonadism, Epiphysea...	OMIM:101800
Cutis Laxa, Autosomal Dominant 3	Unilateral renal agenesis, Osteopenia, Delayed cranial suture closure, Os odontoideum, Joint hype...	OMIM:616603
Mesomelic Dysplasia, Kantaputra Type	Abnormality of the ankle, Synostosis of carpal bones, Camptodactyly of finger, Vertebral segmenta...	ORPHA:1836
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Abnormal vertebral morphology, Hypoplastic scapulae, Dilatation of the renal pelvis, Limitation o...	ORPHA:95699
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome	Platyspondyly, Joint stiffness, Osteoarthritis, Abnormal intervertebral disk morphology, Avascula...	ORPHA:1345
Lateral Meningocele Syndrome	Umbilical hernia, Sclerosis of skull base, Biconcave vertebral bodies, Joint hypermobility, Wormi...	OMIM:130720
Leopard Syndrome 1	Unilateral renal agenesis, Pectus carinatum, Delayed menarche, Kyphoscoliosis, Missing ribs, Limi...	OMIM:151100
Juberg-Hayward Syndrome	Abnormal vertebral morphology, Anteriorly placed anus, Horseshoe kidney, Abnormality of the wrist...	ORPHA:2319
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies	Osteopenia, Renal hypoplasia, Renal cortical hyperechogenicity, Beta 2-microglobulinuria, Delayed...	OMIM:611555
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3	Platyspondyly, Thin ribs, Multiple joint dislocation, Knee dislocation, Joint hypermobility, Narr...	OMIM:618395
Aarskog-Scott Syndrome	Genu recurvatum, Umbilical hernia, Camptodactyly of finger, Joint hypermobility, Abnormality of t...	ORPHA:915
Bruck Syndrome 2	Platyspondyly, Osteopenia, Pectus carinatum, Hydroxyprolinuria, Elbow flexion contracture, Pteryg...	OMIM:609220
Spondyloepiphyseal Dysplasia Congenita	Platyspondyly, Cervical myelopathy, Hip dislocation, Hypoplasia of the odontoid process, Atlantoa...	OMIM:183900
Meckel Syndrome, Type 8	Narrow chest, Occipital encephalocele, Hyperechogenic kidneys, Encephalocele, Short neck, Polycys...	OMIM:613885
Femoral-Facial Syndrome	Encephalocele, Humeroradial synostosis, Limited elbow movement, Radioulnar synostosis, Sprengel a...	OMIM:134780
Kbg Syndrome	Delayed skeletal maturation, Cervical ribs, Rib fusion, Short neck, Vertebral fusion, Vertebral a...	OMIM:148050
Otopalatodigital Syndrome Type 1	Synostosis of carpal bones, Limitation of joint mobility, Elbow dislocation, Increased bone miner...	ORPHA:90650
Apert Syndrome	Lambdoidal craniosynostosis, Delayed epiphyseal ossification, Coronal craniosynostosis, Bifid uvu...	OMIM:101200
Thanatophoric Dysplasia Type 2	Platyspondyly, Narrow chest, Limitation of joint mobility, Encephalocele, Joint hypermobility, Hy...	ORPHA:93274
Short-Rib Thoracic Dysplasia 18 With Polydactyly	Platyspondyly, Vertebral wedging, Thoracic hypoplasia, Hyperechogenic kidneys, Intestinal malrota...	OMIM:617866
Apert Syndrome	Bifid uvula, Cervical C5/C6 vertebrae fusion, Vertebral segmentation defect, Ectopic anus, Esopha...	ORPHA:87
Spondylometaphyseal Dysplasia, Kozlowski Type	Platyspondyly, Abnormal rib cage morphology, Pectus carinatum, Hypoplasia of the odontoid process...	OMIM:184252
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome	Abnormal rib morphology	ORPHA:2435
Spondyloepiphyseal Dysplasia Tarda, X-Linked	Platyspondyly, Hip osteoarthritis, Hump-shaped mound of bone in central and posterior portions of...	OMIM:313400
Pseudodiastrophic Dysplasia	Platyspondyly, Hypoplasia of the odontoid process, Elbow dislocation, Tongue-like lumbar vertebra...	OMIM:264180
Aicardi Syndrome	Block vertebrae, Butterfly vertebrae, Missing ribs, Supernumerary ribs, Rib fusion, Hiatus hernia...	OMIM:304050
Koolen-De Vries Syndrome	High, narrow palate, Hip dislocation, Vesicoureteral reflux, Renal duplication, Vertebral segment...	ORPHA:96169
Spondyloepimetaphyseal Dysplasia, Irapa Type	Platyspondyly, Pectus carinatum, Synostosis of carpal bones, Limitation of joint mobility, Abnorm...	ORPHA:93351
Spondylocarpotarsal Synostosis Syndrome	Pectus carinatum, Block vertebrae, Hypoplasia of the odontoid process, Delayed skeletal maturatio...	OMIM:272460
Robinow Syndrome, Autosomal Recessive 1	Thoracic hemivertebrae, Delayed cranial suture closure, Short neck, Thoracolumbar scoliosis, Disl...	OMIM:268310
Pallister-Hall Syndrome	Renal hypoplasia, Hip dislocation, Hydroureter, Microglossia, Anteriorly placed anus, Distal uret...	OMIM:146510
Alkaptonuria	Elevated urinary homogentisic acid, Limited hip movement, Decreased glomerular filtration rate, D...	OMIM:203500
Isolated Polycystic Liver Disease	Multiple renal cysts, Back pain	ORPHA:2924
Vacterl/Vater Association	Hypospadias, Multicystic kidney dysplasia, Occipital encephalocele, Renal agenesis, Abnormality o...	ORPHA:887
Schneckenbecken Dysplasia	Platyspondyly, Hypoplastic scapulae, Narrow chest, Thoracic hypoplasia, Umbilical hernia, Advance...	OMIM:269250
Basal Cell Nevus Syndrome 1	Hamartomatous stomach polyps, Vertebral wedging, Abnormal sternum morphology, Kyphoscoliosis, Sho...	OMIM:109400
Thrombocytopenia-Absent Radius Syndrome	Hip dislocation, Dilatation of the renal pelvis, Meckel diverticulum, Lateral clavicle hook, Cerv...	OMIM:274000
Progressive Pseudorheumatoid Dysplasia	Platyspondyly, Joint contracture of the hand, Camptodactyly of finger, Sclerotic vertebral endpla...	OMIM:208230
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness	Platyspondyly, Lumbar hyperlordosis, Distal ulnar epiphyseal stippling, Cupped ribs, Beaking of v...	OMIM:609616
Dental Anomalies And Short Stature	Platyspondyly, Delayed skeletal maturation, Herniation of intervertebral nuclei, Intervertebral s...	OMIM:601216
Spondyloepimetaphyseal Dysplasia, Strudwick Type	Platyspondyly, Pectus carinatum, Hypoplasia of the odontoid process, Genu valgum, Delayed pubic b...	OMIM:184250
Autosomal Recessive Robinow Syndrome	Pectus carinatum, Multicystic kidney dysplasia, Synostosis of carpal bones, Elbow dislocation, Um...	ORPHA:1507
Idiopathic Juvenile Osteoporosis	Recurrent fractures, Osteoporosis, Vertebral compression fracture, Kyphosis, Bone pain	ORPHA:85193
Hall-Riggs Syndrome	Platyspondyly, Delayed skeletal maturation, Osteoporosis, Scoliosis, Kyphosis, Irregular vertebra...	OMIM:234250
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome	Platyspondyly, Narrow chest, Abnormal clavicle morphology, Decreased skull ossification, Short ne...	ORPHA:93267
Multiple Epiphyseal Dysplasia, Beighton Type	Limitation of joint mobility, Thoracic platyspondyly, Joint stiffness, Genu valgum, Abnormal acet...	ORPHA:166011
Caudal Duplication	Abnormal penis morphology, Intestinal duplication, Myelomeningocele, Bifid sacrum, Vertebral segm...	ORPHA:1756
Autosomal Recessive Stickler Syndrome	Platyspondyly, Genu valgum, Joint hypermobility, Cleft palate, Irregular vertebral endplates	ORPHA:250984
Fibrochondrogenesis 2	Platyspondyly, Thoracic hypoplasia, Bell-shaped thorax, Short ribs, Cupped ribs	OMIM:614524
Osteogenesis Imperfecta, Type Xxi	Platyspondyly, Bell-shaped thorax, Barrel-shaped chest, Joint hypermobility, Wormian bones, Pectu...	OMIM:619131
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome	Platyspondyly, Anisospondyly, Narrow chest, Oligosacchariduria, Delayed patellar ossification, Sh...	ORPHA:163649
Axial Spondylometaphyseal Dysplasia	Platyspondyly, Osteopenia, Narrow chest, Posterior wedging of vertebral bodies, Aplasia/Hypoplasi...	ORPHA:168549
Gm1-Gangliosidosis, Type Iii	Platyspondyly, Hypoplastic acetabulae, Anterior beaking of lumbar vertebrae, Scoliosis, Kyphosis	OMIM:230650
Osteogenesis Imperfecta, Type Xxiii	Osteopenia, Shallow acetabular fossae, Genu valgum, Recurrent fractures, Severe platyspondyly, Re...	OMIM:620639
Smith-Mccort Dysplasia 1	Platyspondyly, Hypoplastic scapulae, Hypoplasia of the odontoid process, Atlantoaxial instability...	OMIM:607326
Aicardi Syndrome	Block vertebrae, Butterfly vertebrae, Intestinal polyposis, Missing ribs, Supernumerary ribs, Rib...	ORPHA:50
Hypogonadotropic Hypogonadism 3 With Or Without Anosmia	Unilateral renal agenesis, Hypogonadotropic hypogonadism, Primary amenorrhea, Micropenis, Finger ...	OMIM:244200
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects	Unilateral renal agenesis, Congenital hip dislocation, Hypoplastic scapulae, Umbilical hernia, Ep...	OMIM:308050
Ollier Disease	Platyspondyly, Abnormal cartilage morphology, Joint stiffness, Multiple enchondromatosis, Osteoly...	ORPHA:296
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type	Abnormal vertebral morphology, Platyspondyly, Delayed ossification of carpal bones, Limited hip m...	ORPHA:93346
Mucopolysaccharidosis, Type X	Platyspondyly, Broad clavicles, Irregular acetabular roof, Broad ribs, Genu valgum, Spatulate rib...	OMIM:619698
Spondylometaphyseal Dysplasia With Corneal Dystrophy	Narrow chest, Thoracic platyspondyly, Increased intervertebral space, Short ribs, Beaking of vert...	OMIM:618961
Frontometaphyseal Dysplasia 2	Congenital hip dislocation, Pyloric stenosis, Bifid uvula, Elbow contracture, Hip contracture, Ne...	OMIM:617137
Atelosteogenesis Type I	Platyspondyly, Narrow chest, Joint dislocation, Thoracic hypoplasia, Absent or minimally ossified...	ORPHA:1190
Bruck Syndrome	Platyspondyly, Pterygium, Joint stiffness, Recurrent fractures, Wormian bones, Osteoporosis, Scol...	ORPHA:2771
Chops Syndrome	High, narrow palate, Tracheomalacia, Horseshoe kidney, Vesicoureteral reflux, Cervical C2/C3 vert...	OMIM:616368
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome	Abnormal form of the vertebral bodies, Sprengel anomaly, Hydrocephalus, Hemivertebrae, Abnormal r...	ORPHA:2180
Mosaic Trisomy 14	Narrow chest, Camptodactyly of finger, High palate, Short neck, Ectopic anus, Abnormal rib morpho...	ORPHA:1703
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome	Platyspondyly, Osteoporosis	ORPHA:71267
Nevus Comedonicus Syndrome	Abnormal vertebral morphology, Spina bifida occulta, Scoliosis, Spina bifida	ORPHA:64754
Thanatophoric Dysplasia	Platyspondyly, Narrow chest, Joint stiffness, Joint hypermobility, Abnormal sacroiliac joint morp...	ORPHA:2655
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type	Platyspondyly, Thoracic hypoplasia, Posterior rib cupping, Lumbar hyperlordosis, Limited elbow ex...	OMIM:608728
Robinow Syndrome	Webbed penis, Multicystic kidney dysplasia, Umbilical hernia, Ankyloglossia, Kyphoscoliosis, Hydr...	ORPHA:97360
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly	Renal hypoplasia, Hydranencephaly, Ureteral agenesis, Renal cyst, Short neck, Arthrogryposis mult...	OMIM:236500
Meckel Syndrome, Type 10	Bifid uvula, Occipital encephalocele, Anencephaly, Renal cyst, Camptodactyly, Cleft palate, Micro...	OMIM:614175
Spondyloperipheral Dysplasia-Short Ulna Syndrome	Platyspondyly, Abnormal hip joint morphology, Limited elbow extension, Delayed pubic bone ossific...	ORPHA:1856
Stickler Syndrome Type 1	Platyspondyly, Abnormal vertebral epiphysis morphology, Joint hypermobility, Osteoarthritis, Clef...	ORPHA:90653
Otopalatodigital Syndrome Type 2	Narrow chest, Synostosis of carpal bones, Elbow dislocation, Carpal synostosis, Myelomeningocele,...	ORPHA:90652
Rhizomelic Dysplasia, Ain-Naz Type	Platyspondyly, Limitation of joint mobility	OMIM:619598
White Forelock With Malformations	Delayed skeletal maturation, Joint hypermobility, Sprengel anomaly, Abnormal rib morphology, Spin...	ORPHA:2475
Campomelia, Cumming Type	Multicystic kidney dysplasia, Abnormal thorax morphology, Abnormal intestine morphology, Multiple...	ORPHA:1318
Brachyolmia Type 3	Platyspondyly, Barrel-shaped chest, Short neck, Scoliosis, Kyphosis	OMIM:113500
Fraser Syndrome 2	Unilateral renal agenesis, Renal hypoplasia, Renal agenesis, Bilateral renal agenesis, Aplasia of...	OMIM:617666
Geroderma Osteodysplastica	Platyspondyly, Pectus carinatum, Abnormal form of the vertebral bodies, Recurrent fractures, Bico...	ORPHA:2078
Chondroectodermal Dysplasia With Night Blindness	Platyspondyly, Osteopenia, Fractures of the long bones, Delayed skeletal maturation, Abnormality ...	ORPHA:319195
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	Platyspondyly, Thin ribs, 11 pairs of ribs, Decreased skull ossification, Hydrocephalus	OMIM:300863
Cenani-Lenz Syndactyly Syndrome	Renal hypoplasia, Renal agenesis, Radioulnar synostosis, Ectopic kidney, Hemivertebrae, Pectus ex...	OMIM:212780
Mucopolysaccharidosis, Type Ivb	Platyspondyly, Cervical myelopathy, Hypoplasia of the odontoid process, Chondroitin sulfate excre...	OMIM:253010
Thanatophoric Dysplasia, Type Ii	Platyspondyly, Small abnormally formed scapulae, Narrow chest, Short ribs, Wide-cupped costochond...	OMIM:187601
Osteogenesis Imperfecta, Type Xiii	Platyspondyly, Enuresis nocturna, Pectus carinatum, Umbilical hernia, Increased bone mineral dens...	OMIM:614856
Spondylometaphyseal Dysplasia, Pagnamenta Type	Platyspondyly, Wormian bones, Delayed skeletal maturation, Thoracic kyphosis	OMIM:619638
Diastrophic Dysplasia	Hypoplastic cervical vertebrae, Abnormal form of the vertebral bodies, Elbow dislocation, Joint d...	ORPHA:628
Anencephaly 1	Anencephaly, Spina bifida	OMIM:206500
Larsen Syndrome	Pectus carinatum, Spondylolysis, Cervical kyphosis, Hypoplastic cervical vertebrae, Elbow disloca...	OMIM:150250
Neuronal Intranuclear Inclusion Disease	Spina bifida occulta, Scoliosis, Abnormal form of the vertebral bodies	ORPHA:2289
Cole-Carpenter Syndrome 2	Platyspondyly, Thin ribs, Osteopenia, Lambdoidal craniosynostosis, Coronal craniosynostosis, Recu...	OMIM:616294
Radio-Renal Syndrome	High, narrow palate, Multicystic kidney dysplasia, Abnormal form of the vertebral bodies, Renal a...	ORPHA:3015
Mucopolysaccharidosis Type 4	Platyspondyly, Pectus carinatum, Joint dislocation, Short thorax, Delayed skeletal maturation, Sp...	ORPHA:582
Takenouchi-Kosaki Syndrome	Unilateral renal agenesis, Abnormal sternum morphology, Hydronephrosis, Camptodactyly, Scoliosis,...	OMIM:616737
Slc39A13-Related Spondylodysplastic Ehlers-Danlos Syndrome	Platyspondyly, Osteopenia, Flexion contracture	ORPHA:157965
Cog1-Cdg	Posterior rib gap, Osteopenia, Butterfly vertebrae, Kyphoscoliosis, Vertebral segmentation defect...	ORPHA:263508
Bardet-Biedl Syndrome 10	Hypogonadism, Renal cyst, Renal insufficiency	OMIM:615987
Branchiootorenal Syndrome 1	Unilateral renal agenesis, Congenital hip dislocation, Renal malrotation, Branchial fistula, Bran...	OMIM:113650
Lethal Congenital Contracture Syndrome Type 1	Limitation of joint mobility, Abnormal form of the vertebral bodies, Short neck, Abnormal rib mor...	ORPHA:1486
Kniest Dysplasia	Platyspondyly, Delayed epiphyseal ossification, Limitation of joint mobility, Tracheomalacia, Umb...	OMIM:156550
Spondyloepimetaphyseal Dysplasia, Shohat Type	Platyspondyly, Delayed epiphyseal ossification, Central vertebral hypoplasia, Lumbar hyperlordosi...	OMIM:602557
Neurofacioskeletal Syndrome With Or Without Renal Agenesis	Unilateral renal agenesis, Hydroureter, Bilateral renal agenesis, Prominent crus of helix, Elbow ...	OMIM:619194
Zttk Syndrome	Unilateral renal agenesis, Bifid uvula, Cervical ribs, Horseshoe kidney, Submucous cleft hard pal...	OMIM:617140
Cardiospondylocarpofacial Syndrome	Delayed skeletal maturation, Carpal synostosis, Horseshoe kidney, Fusion of middle ear ossicles, ...	OMIM:157800
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Unilateral renal agenesis, Ankle flexion contracture, Duodenal atresia, Hydronephrosis, Abnormali...	ORPHA:464311
Osteogenesis Imperfecta, Type Ii	Platyspondyly, Thin ribs, Thoracic hypoplasia, Bell-shaped thorax, Multiple rib fractures, Wormia...	OMIM:166210
Pseudoachondroplasia	Platyspondyly, Atlantoaxial dislocation, Delayed epiphyseal ossification, Hypoplasia of the odont...	OMIM:177170
Hypophosphatasia, Infantile	Platyspondyly, Unossified vertebral bodies, Nephrocalcinosis, Rachitic rosary, Phosphoethanolamin...	OMIM:241500
Wolf-Hirschhorn Syndrome	Abnormal vertebral morphology, Hypospadias, Abnormality of the urinary system, Abnormality of the...	ORPHA:280
Hyperparathyroidism, Transient Neonatal	Thin ribs, Unilateral renal agenesis, Fractured rib, Osteopenia, Narrow chest, Umbilical hernia, ...	OMIM:618188
Spondyloepimetaphyseal Dysplasia, Shohat Type	Abnormal vertebral morphology, Platyspondyly, Delayed epiphyseal ossification, Thoracic hypoplasi...	ORPHA:93352
Vacterl Association With Hydrocephalus	Abnormal vertebral morphology, Renal hypoplasia, Abnormality of the vertebral column, Hydrocephal...	OMIM:276950
Bardet-Biedl Syndrome 16	Renal agenesis, Hypogonadism, Stage 5 chronic kidney disease, Renal insufficiency, Renal cyst, Re...	OMIM:615993
Inverted Duplicated Chromosome 15 Syndrome	Hypogonadism, Unilateral renal agenesis, High palate, Joint hypermobility	ORPHA:3306
Spondylometaphyseal Dysplasia, Kozlowski Type	Delayed epiphyseal ossification, Hypoplasia of the odontoid process, Premature osteoarthritis, In...	ORPHA:93314
Spondyloepimetaphyseal Dysplasia, Missouri Type	Pear-shaped vertebrae, Platyspondyly, Delayed skeletal maturation, Limited elbow extension, Genu ...	OMIM:602111
Phaver Syndrome	Abnormal form of the vertebral bodies, Camptodactyly of finger, Myelomeningocele, Pterygium, Join...	ORPHA:2876
Metaphyseal Chondrodysplasia, Schmid Type	Abnormal vertebral morphology, Platyspondyly, Osteosclerosis of ribs, Lumbar hyperlordosis, Anter...	ORPHA:174
Imperforate Oropharynx-Costovertebral Anomalies Syndrome	Abnormal form of the vertebral bodies, Aplasia/Hypoplasia of the tongue, Joint hypermobility, Mis...	ORPHA:2759
Fanconi Anemia, Complementation Group N	Unilateral renal agenesis, Horseshoe kidney, Nephroblastoma, Short neck, Anal atresia, Pelvic kid...	OMIM:610832
Lethal Kniest-Like Dysplasia	Platyspondyly, Narrow chest, Abnormal cartilage morphology, Short ribs, Hypoplastic vertebral bod...	ORPHA:2347
7Q11.23 Microduplication Syndrome	Unilateral renal agenesis, Enuresis, Tracheomalacia, Joint hypermobility, Hydronephrosis, Cubitus...	ORPHA:96121
Odontochondrodysplasia	Platyspondyly, Narrow chest, Scoliosis, Joint hypermobility	ORPHA:166272
Trisomy 20P	Platyspondyly, Hypospadias, Abnormal form of the vertebral bodies, Umbilical hernia, Camptodactyl...	ORPHA:261318
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Thin ribs, Coronal craniosynostosis, Pyloric stenosis, Contracture of the distal interphalangeal ...	ORPHA:83617
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs	Unilateral renal agenesis, Hydranencephaly, Cleft palate	OMIM:601355
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies	Pectus excavatum, Abnormal rib morphology, Hypoplastic distal segments of scapulae, Joint hypermo...	OMIM:602196
Mucopolysaccharidosis, Type Iiia	Umbilical hernia, Heparan sulfate excretion in urine, Joint stiffness, Thickened ribs, Ovoid thor...	OMIM:252900
Laryngotracheoesophageal Cleft Type 4	Tracheoesophageal fistula, Intestinal atresia, Abnormal form of the vertebral bodies, Abnormal ri...	ORPHA:93941
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type	Platyspondyly, Thoracolumbar kyphosis, Delayed epiphyseal ossification, Hip dislocation, Hip subl...	ORPHA:93360
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Platyspondyly, Osteopenia, Thoracic hypoplasia, Short ribs, Hydronephrosis, Multiple rib fracture...	OMIM:616897
Polycystic Kidney Disease 7	Stage 5 chronic kidney disease, Renal atrophy, Renal insufficiency, Renal interstitial fibrosis, ...	OMIM:620056
Dyrk1A-Related Intellectual Disability Syndrome	Unilateral renal agenesis, Duodenal atresia, Multiple joint contractures, Hydronephrosis, Abnorma...	ORPHA:464306
Rhizomelic Dysplasia, Patterson-Lowry Type	Platyspondyly	OMIM:601438
Dyggve-Melchior-Clausen Disease	Platyspondyly, Pectus carinatum, Hypoplasia of the odontoid process, Atlantoaxial instability, Ab...	ORPHA:239
Chromosome 17Q12 Deletion Syndrome	Unilateral renal agenesis, Multicystic kidney dysplasia, Renal hypoplasia, Hypoplasia of the blad...	OMIM:614527
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3	Lambdoidal craniosynostosis, Osteopenia, Nephrocalcinosis, Hydroureter, Ureteral stenosis, Delaye...	OMIM:615398
Baller-Gerold Syndrome	Abnormal vertebral morphology, Lambdoidal craniosynostosis, Carpal synostosis, Patellar aplasia, ...	OMIM:218600
Cervical Ribs, Sprengel Anomaly, Anal Atresia, And Urethral Obstruction	Urethral obstruction, Renal hypoplasia, Cervical ribs, Urinary bladder wall hypertrophy, Sprengel...	OMIM:601389
Sillence Syndrome	Abnormal vertebral morphology, Platyspondyly, Intervertebral disk degeneration, Camptodactyly, Fl...	ORPHA:3168
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome	Unilateral renal agenesis, Joint hypermobility, Hydrocephalus, Pectus excavatum, Scoliosis, Promi...	ORPHA:457284
Cantu Syndrome	Platyspondyly, Narrow chest, Delayed skeletal maturation, Umbilical hernia, Cuboid-shaped vertebr...	OMIM:239850
Schwartz-Jampel Syndrome, Type 1	Platyspondyly, Congenital hip dislocation, Joint contracture of the hand, Cervical kyphosis, Shou...	OMIM:255800
Harrod Syndrome	Multicystic kidney dysplasia, Abnormal shoulder morphology, Joint hypermobility, High palate, Sco...	ORPHA:2115
Stickler Syndrome, Type I	Platyspondyly, Bifid uvula, Joint stiffness, Spondylolisthesis, Submucous cleft hard palate, Morb...	OMIM:108300
Metaphyseal Chondrodysplasia, Schmid Type	Platyspondyly, Distal tibial bowing, Irregular acetabular roof, Lumbar hyperlordosis, Genu valgum...	OMIM:156500
Osteogenesis Imperfecta, Type X	Platyspondyly, Thin ribs, Osteopenia, Narrow chest, Thoracic hypoplasia, Broad ribs, Genu valgum,...	OMIM:613848
Thanatophoric Dysplasia, Type I	Platyspondyly, Small abnormally formed scapulae, Narrow chest, Thoracic hypoplasia, Short ribs, W...	OMIM:187600
Marden-Walker Syndrome	Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Radioulnar synostosis, Abnormality of the...	ORPHA:2461
Combined Oxidative Phosphorylation Deficiency 47	Platyspondyly, Short neck	OMIM:618958
Cerebrocostomandibular Syndrome	Posterior rib gap, Hydranencephaly, Multicystic kidney dysplasia, Tracheomalacia, Myelomeningocel...	ORPHA:1393
Coach Syndrome 1	Unilateral renal agenesis, Nephronophthisis, Occipital encephalocele, Multiple small medullary re...	OMIM:216360
Spondyloepiphyseal Dysplasia Congenita	Platyspondyly, Kyphosis, Lumbar hyperlordosis, Genu valgum, Laryngotracheomalacia, Reduced bone m...	ORPHA:94068
Kaposiform Lymphangiomatosis	Abnormal form of the vertebral bodies, Fractures of the long bones, Osteolysis, Abnormal scapula ...	ORPHA:464329
Melnick-Needles Syndrome	Anisospondyly, Narrow chest, Short thorax, Delayed cranial suture closure, Vesicoureteral reflux,...	ORPHA:2484
Koolen-De Vries Syndrome	Pyloric stenosis, Hip dislocation, Narrow palate, Recurrent urinary tract infections, Vesicourete...	OMIM:610443
Mucopolysaccharidosis, Type Vii	Hypoplasia of the odontoid process, Limitation of joint mobility, Urinary glycosaminoglycan excre...	OMIM:253220
Osteogenesis Imperfecta, Type Xvi	Platyspondyly, Osteopenia, Narrow chest, Decreased calvarial ossification, Multiple rib fractures...	OMIM:616229
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies	Unilateral renal agenesis, Osteopenia, Recurrent urinary tract infections, Umbilical hernia, Hype...	ORPHA:221139
Anauxetic Dysplasia 3	Platyspondyly, Narrow chest, Genu valgum, Joint hypermobility, Beaking of vertebral bodies, Pectu...	OMIM:618853
ERI1-related disease	Platyspondyly, Osteopenia, Pectus carinatum, Narrow chest, Velopharyngeal insufficiency, Delayed ...	OMIM:608739
Cooper-Jabs Syndrome	Anteriorly placed anus, Camptodactyly of finger, Umbilical hernia, Reduced bone mineral density, ...	ORPHA:1488
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus	Platyspondyly, Hypoplasia of the odontoid process, Ivory epiphyses of the phalanges of the hand, ...	OMIM:226980
Hajdu-Cheney Syndrome	Genu valgum, Crowded carpal bones, Short neck, Dislocated radial head, High palate, Hypospadias, ...	OMIM:102500
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3	Platyspondyly, Osteopenia, Joint contracture of the hand, Bifid uvula, Camptodactyly of finger, K...	OMIM:612350
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	Unilateral renal agenesis, Hypospadias, Abnormal renal collecting system morphology, Ankle flexio...	ORPHA:468631
Mosaic Trisomy 9	Hip dislocation, Limitation of joint mobility, Elbow dislocation, Camptodactyly of finger, Horses...	ORPHA:99776
Dyggve-Melchior-Clausen Disease	Hypoplastic scapulae, Hypoplasia of the odontoid process, Limitation of joint mobility, Genu valg...	OMIM:223800
Calvarial Doughnut Lesions With Bone Fragility	Platyspondyly, Osteopenia, Osteoporosis, Scoliosis, Recurrent fractures	OMIM:126550
RCAD (renal cysts and diabetes)	Multiple renal cysts	DECIPHER:47
Cole-Carpenter Syndrome	Kyphosis, Abnormal form of the vertebral bodies, Joint hypermobility, Wormian bones, Abnormal rib...	ORPHA:2050
Distal Triplication 15Q	Dilatation of the renal pelvis, Abnormal sternum morphology, Horseshoe kidney, Nephroblastoma, Hy...	ORPHA:314588
Distal 22Q11.2 Microduplication Syndrome	Unilateral renal agenesis, Branchial fistula, Camptodactyly of finger, Camptodactyly of toe, Anal...	ORPHA:261337
Autosomal Recessive Primary Microcephaly	Unilateral renal agenesis, Vesicoureteral reflux	ORPHA:2512
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type	Platyspondyly, Wormian bones, Wide anterior fontanel	OMIM:601356
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome	Unilateral renal agenesis, Velopharyngeal insufficiency, Recurrent urinary tract infections, Hors...	ORPHA:363444
3M Syndrome	Thin ribs, Hypospadias, Congenital hip dislocation, Delayed skeletal maturation, Enlarged thorax,...	ORPHA:2616
Garg-Mishra Progeroid Syndrome	Platyspondyly, Thin ribs, Narrow chest, Persistent open anterior fontanelle, Ovoid vertebral bodies	OMIM:620601
Fanconi Anemia, Complementation Group L	Unilateral renal agenesis, Renal hypoplasia, Hypoplastic sacrum, Short neck, Tracheoesophageal fi...	OMIM:614083
Anauxetic Dysplasia 1	Platyspondyly, Atlantoaxial dislocation, Macroglossia, Elbow flexion contracture, Lumbar hyperlor...	OMIM:607095
Cenani-Lenz Syndrome	Synostosis of joints, High, narrow palate, Synostosis of carpal bones, Abnormal form of the verte...	ORPHA:3258
Syndromic Recessive X-Linked Ichthyosis	Abnormal stomach morphology, Unilateral renal agenesis, Renal insufficiency, Hypogonadism	ORPHA:281090
Stickler Syndrome, Type Iv	Platyspondyly, Genu valgum, Joint hypermobility, Intervertebral space narrowing, Scoliosis	OMIM:614134
Osteogenesis Imperfecta, Type Xviii	Thin ribs, Umbilical hernia, Biconcave vertebral bodies, Joint hypermobility, Wormian bones, Gene...	OMIM:617952
Acrofacial Dysostosis 1, Nager Type	Unilateral renal agenesis, Velopharyngeal insufficiency, Limited elbow extension, Hypoplasia of f...	OMIM:154400
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy	Platyspondyly, Thin ribs, Hypoplasia of the odontoid process, Delayed skeletal maturation, Kyphos...	OMIM:300232
Smith-Mccort Dysplasia 2	Platyspondyly, Pectus carinatum, Hypoplasia of the odontoid process, Genu valgum, Enlarged interp...	OMIM:615222
Otospondylomegaepiphyseal Dysplasia	Abnormal vertebral morphology, Platyspondyly, Bifid uvula, Limitation of joint mobility, Abnormal...	ORPHA:1427
Holzgreve Syndrome	Aplasia/Hypoplasia of the tongue, Joint stiffness, Abnormally ossified vertebrae, Renal hypoplasi...	ORPHA:2167
Spondylo-Ocular Syndrome	Platyspondyly, Joint hypermobility, Short neck, Osteoporosis, Abnormal intervertebral disk morpho...	ORPHA:85194
Papillorenal Syndrome	Chronic kidney disease, Multicystic kidney dysplasia, Renal hypoplasia, Renal malrotation, Horses...	OMIM:120330
Tetraamelia-Multiple Malformations Syndrome	Multicystic kidney dysplasia, Missing ribs, Hydrocephalus, Abnormal rib morphology, Anal atresia,...	ORPHA:3301
Congenital Pseudoarthrosis Of The Clavicle	Congenital pseudoarthrosis of the clavicle, Osteoarthritis, Cervical ribs	ORPHA:66630
Spondyloepimetaphyseal Dysplasia, Aggrecan Type	Platyspondyly, Lumbar hyperlordosis, Barrel-shaped chest, Joint hypermobility, Short neck	OMIM:612813
Trisomy 13	High, narrow palate, Narrow chest, Abnormality of the ureter, Displacement of the urethral meatus...	ORPHA:3378
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome	Micropenis, Unilateral renal agenesis, Crossed fused renal ectopia, High palate	OMIM:618142
Platyspondylic Dysplasia, Torrance Type	Platyspondyly, Hypoplastic scapulae, Narrow chest, Short thorax, Abnormal carpal morphology, Genu...	ORPHA:85166
Williams-Beuren Region Duplication Syndrome	Hydronephrosis, Unilateral renal agenesis, High palate, Hydrocephalus	OMIM:609757
Renal Hypoplasia	Chronic kidney disease, Unilateral renal agenesis, Glomerulomegaly, Recurrent urinary tract infec...	ORPHA:93101
Osteogenesis Imperfecta, Type Iii	Thin ribs, Protrusio acetabuli, Recurrent fractures, Bowing of limbs due to multiple fractures, B...	OMIM:259420
Trisomy 17P	Scoliosis, Flexion contracture, Prominent metopic ridge, Hydronephrosis, Short neck, Hydrocephalu...	ORPHA:261290
Myoectodermal Gonadal Dysgenesis Syndrome	Unilateral renal agenesis, Delayed skeletal maturation, Limited elbow extension, Anal atresia, Sc...	OMIM:618419
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Abnormal vertebral morphology, Tracheomalacia, Horseshoe kidney, Vesicoureteral reflux, Cervical ...	ORPHA:444077
Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome	Radioulnar synostosis, Multicystic kidney dysplasia, Pectus excavatum	ORPHA:3270
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome	Rib fusion, Celiac disease, Sacral dimple	ORPHA:544488
Hirschsprung Disease With Polydactyly, Renal Agenesis, And Deafness	Aganglionic megacolon, Unilateral renal agenesis	OMIM:235740
Bresek Syndrome	Renal hypoplasia, Hypoplasia of the bladder, Vesicoureteral reflux, Aganglionic megacolon, Hydroc...	ORPHA:85284
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Platyspondyly, Hydrocephalus, Thin ribs	ORPHA:163966
Achondrogenesis Type 1B	Narrow chest, Abnormal enchondral ossification, Abnormal rib morphology, Umbilical hernia, Short ...	ORPHA:93298
Wolf-Hirschhorn Syndrome	Hypospadias, Hip dislocation, Malrotation of small bowel, Abnormal form of the vertebral bodies, ...	OMIM:194190
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome	Spina bifida, Abnormal rib morphology, Vertebral segmentation defect	ORPHA:1120
Fibrochondrogenesis 1	Platyspondyly, Thin ribs, Joint contracture of the hand, Hypoplastic scapulae, Thoracic hypoplasi...	OMIM:228520
Fibrochondrogenesis	Hypoplastic scapulae, Narrow chest, Abnormal form of the vertebral bodies, Camptodactyly of finge...	ORPHA:2021
Intellectual Developmental Disorder, X-Linked 112	Enuresis nocturna, Hypospadias, Enuresis, Dilatation of the renal pelvis, Volvulus, Horseshoe kid...	OMIM:301111
Cantú Syndrome	Platyspondyly, Narrow chest, Delayed skeletal maturation, Umbilical hernia, Broad ribs, Cuboid-sh...	ORPHA:1517
Hoxha-Aliu Syndrome	Abnormal vertebral morphology, Platyspondyly, Osteopenia, Pectus carinatum, Delayed skeletal matu...	OMIM:620662
Alagille Syndrome	Nephrotic syndrome, Abnormal form of the vertebral bodies, Delayed skeletal maturation, Abnormali...	ORPHA:52
Braddock-Carey Syndrome 1	Multicystic kidney dysplasia, Anteriorly placed anus, Hyperlordosis, Camptodactyly, Cleft palate	OMIM:619980
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type	Thoracolumbar kyphosis, Thin ribs, Narrow chest, Thoracic hypoplasia, Disc-like vertebral bodies,...	OMIM:151210
Burn-Mckeown Syndrome	Bifid uvula, Unilateral renal agenesis, Renal hypoplasia, Cleft palate	OMIM:608572
Spondyloepimetaphyseal Dysplasia, Guo-Campeau Type	Platyspondyly, Osteopenia, Pectus carinatum, Velopharyngeal insufficiency, Delayed skeletal matur...	OMIM:620663
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	Delayed epiphyseal ossification, Narrow chest, Delayed skeletal maturation, Dysplastic sacrum, Be...	OMIM:613320
1P36 Deletion Syndrome	Hypospadias, Spinal canal stenosis, Delayed cranial suture closure, Camptodactyly of finger, 11 p...	ORPHA:1606
Acrorenal-Mandibular Syndrome	Thin ribs, Narrow palate, Hypoplastic scapulae, Narrow chest, Abnormal sacral segmentation, Renal...	OMIM:200980
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome	Pectus carinatum, Limitation of joint mobility, Delayed skeletal maturation, Hypogonadotropic hyp...	ORPHA:3068
Acro-Renal-Ocular Syndrome	Horseshoe kidney, Crossed fused renal ectopia, Vesicoureteral reflux, Renal hypoplasia/aplasia, V...	ORPHA:959
Infantile-Onset X-Linked Spinal Muscular Atrophy	Ankle flexion contracture, Interphalangeal joint contracture of finger, Elbow flexion contracture...	ORPHA:1145
Mucopolysaccharidosis, Type Iiib	Heparan sulfate excretion in urine, Joint stiffness, Ovoid thoracolumbar vertebrae, Thickened rib...	OMIM:252920
Congenital Anomalies Of Kidney And Urinary Tract 2	Renal hypoplasia, Hydroureter, Renal dysplasia, Hyperechogenic kidneys, Renal insufficiency, Uret...	OMIM:143400
Oligomeganephronia	Unilateral renal agenesis, Abnormal nephron morphology, Branchial cyst, Glomerulomegaly, Bilatera...	ORPHA:2260
Lowry-Wood Syndrome	Platyspondyly, Elbow dislocation, Delayed skeletal maturation, Joint stiffness, Patellar dislocat...	ORPHA:1824
Grant Syndrome	Abnormality of the glenoid fossa, Narrow chest, Joint dislocation, Joint hypermobility, Decreased...	ORPHA:2097
Poland Syndrome	Ureterocele, Aplasia/Hypoplasia of the sternum, Encephalocele, Renal hypoplasia/aplasia, Short ne...	ORPHA:2911
Dysosteosclerosis	Platyspondyly, Osteopenia, Narrow chest, Sclerosis of hand bone, Broad ribs, Sclerosis of skull b...	OMIM:224300
Faciodigitogenital Syndrome, Autosomal Recessive	Abnormal rib cage morphology, Narrow palate, Down-sloping shoulders, Hyperextensible hand joints,...	OMIM:227330
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Thoracic hypoplasia, Lateral clavicle hook, Hamartoma of tongue, Acetabular spurs, Intestinal mal...	OMIM:613091
Beaulieu-Boycott-Innes Syndrome	Unilateral renal agenesis, Velopharyngeal insufficiency, Recurrent urinary tract infections, Hors...	OMIM:613680
Cerebrocostomandibular Syndrome	Cleft soft palate, Bell-shaped thorax, Short hard palate, High palate, Ectopic kidney, Posterior ...	OMIM:117650
Mucopolysaccharidosis, Type Iiic	Heparan sulfate excretion in urine, Joint stiffness, Kyphoscoliosis, Ovoid thoracolumbar vertebra...	OMIM:252930
Spondylometaphyseal Dysplasia, Schmidt Type	Platyspondyly, Abnormality of the vertebral column, Irregular acetabular roof, Abnormality of the...	ORPHA:93316
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities	Platyspondyly, Thoracolumbar kyphosis, Hepatic cysts, Kyphoscoliosis, Anal atresia, Pectus excava...	OMIM:617425
Thanatophoric Dysplasia Type 1	Platyspondyly, Narrow chest, Joint stiffness, Abnormal sacroiliac joint morphology, Hydrocephalus...	ORPHA:1860
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome	Unilateral renal agenesis, Abnormal sternum morphology, Hydronephrosis, Camptodactyly, Flexion co...	ORPHA:487796
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Sclerotic vertebral body, Platyspondyly, Pectus carinatum, Craniofacial osteosclerosis, Increased...	OMIM:618476
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive	Platyspondyly, Premature osteoarthritis, Lumbar hyperlordosis, Beaking of vertebral bodies, Flexi...	OMIM:215150
Mosaic Trisomy 8	Narrow chest, Limitation of joint mobility, Arthrogryposis multiplex congenita, Camptodactyly of ...	ORPHA:96061
Congenital Disorder Of Glycosylation, Type Iil	Unilateral renal agenesis, Inflammation of the large intestine, Proximal tubulopathy, Hyperechoge...	OMIM:614576
Ehlers-Danlos Syndrome, Classic-Like, 1	Unilateral renal agenesis, Joint subluxation, Vesicoureteral reflux, Joint hypermobility, Hiatus ...	OMIM:606408
Simpson-Golabi-Behmel Syndrome	High, narrow palate, Hypospadias, Multicystic kidney dysplasia, Congenital hip dislocation, Hydro...	ORPHA:373
Genitopalatocardiac Syndrome	Multicystic kidney dysplasia, Hydrocephalus, Scoliosis, Hypospadias, Kyphosis, Cleft palate	ORPHA:2075
Chromosome 16P13.3 Duplication Syndrome	Bifid uvula, Cervical C5/C6 vertebrae fusion, Short neck, Camptodactyly, Pectus excavatum, Trache...	OMIM:613458
Congenital Disorder Of Glycosylation, Type Il	Kyphosis, Delayed skeletal maturation, Villous atrophy, Short neck, Polycystic kidney dysplasia, ...	OMIM:608776
Dysosteosclerosis	Platyspondyly, Hypoplastic vertebral bodies, Increased bone mineral density, Recurrent fractures,...	ORPHA:1782
Desbuquois Dysplasia 1	Platyspondyly, Narrow chest, Joint dislocation, Advanced tarsal ossification, Joint hypermobility...	OMIM:251450
Osteogenesis Imperfecta, Type Viii	Platyspondyly, Thin ribs, Osteopenia, Recurrent fractures, Barrel-shaped chest, Decreased skull o...	OMIM:610915
Mucopolysaccharidosis Type 6	Broad ribs, Joint stiffness, Genu valgum, Short neck, Mucopolysacchariduria, Macroglossia, Kyphos...	ORPHA:583
Elsahy-Waters Syndrome	Bifid uvula, Anal stenosis, Anteriorly placed anus, Cervical C2/C3 vertebral fusion, Penoscrotal ...	OMIM:211380
Acro-Renal-Mandibular Syndrome	Thin ribs, Pectus carinatum, Hip dislocation, Hypoplastic scapulae, Abnormal clavicle morphology,...	ORPHA:958
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome	Intestinal malrotation, Aqueductal stenosis, Abnormally ossified vertebrae, Abnormal rib morphology	ORPHA:3035
Distal 16P11.2 Microdeletion Syndrome	Chronic kidney disease, Renal agenesis, Vesicoureteral reflux, Proteinuria, Aganglionic megacolon...	ORPHA:261222
Geroderma Osteodysplasticum	Platyspondyly, Osteopenia, Hyperextensibility of the finger joints, Increased susceptibility to f...	OMIM:231070
Desbuquois Dysplasia 2	Platyspondyly, Bifid uvula, Pectus carinatum, Narrow chest, Knee dislocation, Lumbar hyperlordosi...	OMIM:615777
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly	Narrow chest, Thoracic dysplasia, Bell-shaped thorax, Horizontal ribs, Lateral clavicle hook	OMIM:615633
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Platyspondyly, Pectus carinatum, Narrow chest, Microglossia, Thoracic dysplasia, Hamartoma of ton...	OMIM:263520
8Q24.3 Microdeletion Syndrome	Unilateral renal agenesis, Congenital hip dislocation, Narrow chest, Branchial cyst, Bilateral re...	ORPHA:508488
Czech Dysplasia	Platyspondyly, Limitation of joint mobility, Thoracic kyphosis, Intervertebral space narrowing, F...	OMIM:609162
Holt-Oram Syndrome	Abnormal clavicle morphology, Joint stiffness, Down-sloping shoulders, Radioulnar synostosis, Spr...	ORPHA:392
Cockayne Syndrome Type 3	Unilateral renal agenesis, Renal hypoplasia, Hydroureter, Urinary retention, Renal insufficiency,...	ORPHA:90324
Fanconi Anemia, Complementation Group B	Abnormal vertebral morphology, Renal agenesis, Hypogonadism, Short neck, Tracheoesophageal fistul...	OMIM:300514
Achondrogenesis Type 1A	Narrow chest, Abnormal enchondral ossification, Umbilical hernia, Multiple rib fractures, Short n...	ORPHA:93299
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1	Bifid uvula, Renal hypoplasia, Absence of the sacrum, Spinal dysraphism, Vesicoureteral reflux, B...	OMIM:617660
Diamond-Blackfan Anemia 11	Unilateral renal agenesis, Radioulnar synostosis, Bilateral cleft palate	OMIM:614900
Bent Bone Dysplasia Syndrome 2	Platyspondyly, Thin ribs, Osteopenia, Hypoplastic acetabulae, Butterfly vertebrae, Short ribs, De...	OMIM:620076
Gm1-Gangliosidosis, Type Ii	Platyspondyly, Thoracolumbar kyphosis, Joint stiffness, Protruding tongue, Hypoplastic vertebral ...	OMIM:230600
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Unilateral renal agenesis, Bifid uvula, Cervical ribs, Horseshoe kidney, Lumbar hyperlordosis, Su...	ORPHA:500150
Occipital Horn Syndrome	Platyspondyly, Pectus carinatum, Broad clavicles, Narrow chest, Persistent open anterior fontanel...	OMIM:304150
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2	Platyspondyly, Osteopenia, Carpal synostosis, Increased susceptibility to fractures, Kyphoscolios...	OMIM:615349
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome	Pectus carinatum, Short neck, Abnormal rib morphology, Hypoplasia of penis, Kyphosis	ORPHA:3082
Autosomal Dominant Cutis Laxa	Genu recurvatum, Unilateral renal agenesis, Osteopenia, Small bowel diverticula, Delayed cranial ...	ORPHA:90348
Renal Tubular Dysgenesis	Nephropathy, Proximal tubulopathy, Renotubular dysgenesis, Joint hypermobility, Multiple renal cysts	ORPHA:3033
Acromesomelic Dysplasia 4	Platyspondyly, Umbilical hernia, Thoracic platyspondyly, Lumbar hyperlordosis, Genu valgum, Thora...	OMIM:619636
Spondyloperipheral Dysplasia	Platyspondyly, Pectus carinatum, Acetabular spurs, Limited elbow extension, Barrel-shaped chest, ...	OMIM:271700
Hall-Riggs Syndrome	Platyspondyly, Joint stiffness, Scoliosis, Delayed skeletal maturation	ORPHA:2107
Alveolar Echinococcosis	Abnormal vertebral morphology, Abnormal sternum morphology, Hepatic cysts, Abnormal bladder morph...	ORPHA:284
Vacterl With Hydrocephalus	Absence of the sacrum, Abnormal form of the vertebral bodies, Renal agenesis, Renal hypoplasia/ap...	ORPHA:3412
Gillessen-Kaesbach-Nishimura Syndrome	Decreased skull ossification, Short neck, Flexion contracture, Polycystic kidney dysplasia, Wide ...	OMIM:263210
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion	Unilateral renal agenesis, Dilatation of the renal pelvis, Recurrent urinary tract infections, Cl...	ORPHA:268261
Trisomy X	Multicystic kidney dysplasia, Premature ovarian insufficiency, Joint hypermobility, Renal hypopla...	ORPHA:3375
Peroxisome Biogenesis Disorder 6A (Zellweger)	Renal cyst, Epiphyseal stippling	OMIM:614870
Thrombocytopenia 11 With Multiple Congenital Anomalies And Dysmorphic Facies	Unilateral renal agenesis, Renal hypoplasia, Pectus carinatum, Tracheomalacia, Umbilical hernia, ...	OMIM:620654
Infantile Liver Failure Syndrome 3	Platyspondyly, Beaking of vertebral bodies, Abnormal acetabulum morphology, Hypoplastic vertebral...	OMIM:618641
Greenberg Dysplasia	Fractured rib, Supernumerary vertebral ossification centers, Large placenta, Barrel-shaped chest,...	OMIM:215140
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans	Platyspondyly, Irregular menstruation, Narrow chest, Lumbar hyperlordosis, Hydrocephalus, Urinary...	OMIM:616482
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech	Platyspondyly, Delayed epiphyseal ossification, Thoracic hypoplasia, Cuboid-shaped vertebral bodi...	OMIM:611717
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria	Platyspondyly, Unilateral renal agenesis, Enlargement of the ankles, Abnormal joint morphology, B...	ORPHA:99646
Pelvis-Shoulder Dysplasia	Congenital hip dislocation, Hypoplastic scapulae, Hypoplastic acetabulae, Lumbar hyperlordosis, S...	OMIM:169550
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome	High, narrow palate, Renal agenesis, Joint stiffness, Renal hypoplasia/aplasia, Short neck, Cleft...	ORPHA:2516
Duane Retraction Syndrome	Abnormal form of the vertebral bodies, Short neck, Camptodactyly, Spina bifida occulta, Ectopic k...	ORPHA:233
Oeis Complex	Duplicated collecting system, Anal atresia, Rectovaginal fistula, Vesicovaginal fistula, Epispadi...	OMIM:258040
Generalized Arterial Calcification Of Infancy	Nephrocalcinosis, Calcification of the auricular cartilage, Cortical nephrocalcinosis, Osteomalac...	ORPHA:51608
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly	Platyspondyly, Thoracolumbar kyphosis, Joint dislocation, Thoracic hypoplasia, Thoracic platyspon...	OMIM:618019
Spondylometaphyseal Dysplasia, Algerian Type	Platyspondyly, Lumbar hyperlordosis, Genu valgum, Kyphoscoliosis, Carpal bone hypoplasia, Anterio...	OMIM:184253
Vater/Vacterl Association	Abnormal vertebral morphology, Hypospadias, Occipital encephalocele, Renal agenesis, Abnormal ste...	OMIM:192350
Gm1-Gangliosidosis, Type I	Abnormality of the urinary system, Joint stiffness, Thickened ribs, Hypoplastic vertebral bodies,...	OMIM:230500
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome	Unilateral renal agenesis, Communicating hydrocephalus, Craniosynostosis	ORPHA:1064
Rhyns Syndrome	Osteopenia, Multicystic kidney dysplasia, Nephronophthisis, Delayed skeletal maturation, Abnormal...	ORPHA:140976
Craniometadiaphyseal Dysplasia, Wormian Bone Type	Osteopenia, Broad ribs, Wormian bones, Increased bone mineral density, High palate, Vertebral arc...	ORPHA:85184
Oculoskeletodental Syndrome	Protein-losing enteropathy, Renal agenesis, Delayed skeletal maturation, Thoracic hypoplasia, Elb...	OMIM:618440
Pallister-Hall Syndrome	Hypospadias, Unilateral renal agenesis, Hip dislocation, Bifid uvula, Bilateral renal agenesis, M...	ORPHA:672
Cornelia De Lange Syndrome 6	Pectus carinatum, Delayed skeletal maturation, Down-sloping shoulders, Posterior rib fusion, Scol...	OMIM:620568
Renal Dysplasia, Cystic, Susceptibility To	Hyperechogenic kidneys, Vesicoureteral reflux, Renal insufficiency, Renal dysplasia, Cystic renal...	OMIM:601331
Schimke Immunoosseous Dysplasia	Platyspondyly, Focal segmental glomerulosclerosis, Osteopenia, Shallow acetabular fossae, Lumbar ...	OMIM:242900
Achondroplasia	Thoracic hypoplasia, Lumbar hyperlordosis, Limited elbow extension, Short ribs, Narrow vertebral ...	OMIM:100800
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins	Congenital shortened small intestine, Dilatation of the renal pelvis, Hydroureter, Meckel diverti...	OMIM:265380
Osteopathia Striata With Cranial Sclerosis	Multicystic kidney dysplasia, Joint contracture of the hand, Anal atresia, High palate, Craniofac...	OMIM:300373
Meckel Syndrome 13	Polycystic kidney dysplasia, Flexion contracture, Occipital encephalocele	OMIM:617562
Brachytelephalangic Chondrodysplasia Punctata	Cervical kyphosis, Hypoplastic cervical vertebrae, Atlantoaxial instability, Cervical spinal cana...	ORPHA:79345
Vertebral Hypersegmentation And Orofacial Anomalies	Submucous cleft hard palate, Joint hypermobility, Supernumerary ribs, Unilateral cleft palate, Si...	OMIM:619122
Ifap Syndrome 1, With Or Without Bresheck Syndrome	Unilateral renal agenesis, Multicystic kidney dysplasia, Hip dislocation, Renal agenesis, Umbilic...	OMIM:308205
Nager Syndrome	Unilateral renal agenesis, Joint stiffness, Cleft palate	ORPHA:245
Cleidocranial Dysplasia	High, narrow palate, Hypoplastic scapulae, Narrow chest, Genu valgum, Glossoptosis, Decreased sku...	ORPHA:1452
Pseudotrisomy 13 Syndrome	Renal hypoplasia, Renal agenesis, 11 pairs of ribs, Median cleft palate, Encephalocele, Hydroceph...	OMIM:264480
Smith-Lemli-Opitz Syndrome	Duplicated collecting system, Holoprosencephaly, Hypospadias, Hip dislocation, Renal agenesis, Hi...	OMIM:270400
Bardet-Biedl Syndrome 4	Hypogonadism, Renal cyst, Abnormality of the kidney	OMIM:615982

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