Genes Phenotypes Help, News, Blog

Please enable javascript if you want to log in to follow or stop following this gene.

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 (853 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		Vertebral fusion, Low back pain, Short neck, Missing ribs, Hemivertebrae, Pectus carinatum, Poste...	OMIM:122600
Autosomal Dominant Spondylocostal Dysostosis		Hyperlordosis, Short neck, Missing ribs, Abnormal sacrum morphology, Short thorax, Abnormal rib m...	ORPHA:1797

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

Disease	Matching phenotypes	Source
Vertebral Fusion, Posterior Lumbosacral, With Blepharoptosis	Posterior fusion of lumbosacral vertebrae	OMIM:192800
Scheuermann Disease	Kyphosis, Osteochondrosis, Morbus Scheuermann	OMIM:181440
Spondylocostal Dysostosis 2, Autosomal Recessive	Short neck, Vertebral clefting, Hemivertebrae, Rib fusion, Vertebral segmentation defect	OMIM:608681
Spondylocostal Dysostosis 3, Autosomal Recessive	Contracture of the proximal interphalangeal joint of the 2nd finger, Kyphosis, Hypoplasia of the ...	OMIM:609813
Cervical Vertebral Dysplasia	Cervical vertebral dysplasia, Cervical vertebral facet hypoplasia, Anterior atlanto-occipital dis...	OMIM:118005
Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome	Sacral dimple, Tarsal synostosis, Joint stiffness, Abnormal form of the vertebral bodies, Posteri...	ORPHA:2064
Spondylocostal Dysostosis 5	Vertebral fusion, Low back pain, Short neck, Missing ribs, Hemivertebrae, Pectus carinatum, Poste...	OMIM:122600
Microcephaly With Cervical Spine Fusion Anomalies	Vertebral fusion, Spinal instability	OMIM:251250
Isolated Klippel-Feil Syndrome	Spina bifida, Short neck, Renal hypoplasia/aplasia, Abnormal sacrum morphology, Abnormal rib morp...	ORPHA:2345
Spondylocostal Dysostosis 1, Autosomal Recessive	Back pain, Vertebral fusion, Block vertebrae, Abnormal odontoid process morphology, Kyphoscoliosi...	OMIM:277300
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3	Vertebral fusion, Sacral dimple, Unilateral renal agenesis, Short thorax, Ureteral atresia, Verte...	OMIM:618845
Spondylocostal Dysostosis 6, Autosomal Recessive	Cervical kyphosis, Hemivertebrae, Spinal canal stenosis, Scoliosis, Butterfly vertebrae	OMIM:616566
Dwarfism With Tall Vertebrae	Increased vertebral height	OMIM:126950
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 2	11 pairs of ribs, Unilateral renal agenesis, Chronic kidney disease, Hemivertebrae, Renal hypopla...	OMIM:617661
Klippel-Feil Syndrome 3, Autosomal Dominant	Thoracic scoliosis, Cervical C3/C4 vertebral fusion, Cervical C5/C6 vertebrae fusion	OMIM:613702
Diaphanospondylodysostosis	Short neck, Missing ribs, Myelomeningocele, Short thorax, Cleft palate, Enlarged thorax, Multiple...	ORPHA:66637
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods	Fusion of midcervical facet joints, Widening of cervical spinal canal, Cervical vertebral bodies ...	OMIM:606842
Autosomal Dominant Spondylocostal Dysostosis	Hyperlordosis, Short neck, Missing ribs, Abnormal sacrum morphology, Short thorax, Abnormal rib m...	ORPHA:1797
Multiple Synostoses Syndrome 2	Vertebral fusion, Tarsal synostosis, Humeroradial synostosis, Finger symphalangism, Proximal symp...	OMIM:610017
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome	Abnormal sacrum morphology, Fused cervical vertebrae, Scoliosis, Thoracic hemivertebrae, Anal atr...	ORPHA:1436
Klippel-Feil Syndrome 2, Autosomal Recessive	Short neck, Cleft palate, Fused cervical vertebrae, Scoliosis, Cervical C2/C3 vertebral fusion, S...	OMIM:214300
Cervical Rib	Cervical ribs	OMIM:117900
Spondylocostal Dysostosis 4, Autosomal Recessive	Vertebral fusion, Neurogenic bladder, Anal stenosis, Abnormal odontoid process morphology, Block ...	OMIM:613686
Mental Retardation, Skeletal Dysplasia, And Abducens Palsy	Prominent metopic ridge, Fused cervical vertebrae, Scoliosis, Thoracic hemivertebrae, Anal atresia	OMIM:309620
Second Metatarsal-Metacarpal Syndrome	Platyspondyly, Synostosis of carpals/tarsals	OMIM:269630
Osteomesopyknosis	Increased bone mineral density, Sclerotic vertebral body, Kyphosis, Abnormal form of the vertebra...	ORPHA:2777
Microcephaly-Cervical Spine Fusion Anomalies Syndrome	Abnormal clavicle morphology, Hypospadias, Hyperlordosis, Short neck, Kyphosis, Pectus excavatum,...	ORPHA:2522
Klippel-Feil Syndrome 1, Autosomal Dominant	Abnormality of the kidney, Unilateral renal agenesis, Short neck, Abnormal rib morphology, Cleft ...	OMIM:118100
Autosomal Recessive Spondylocostal Dysostosis	Rib segmentation abnormalities, Abnormal intervertebral disk morphology, Hypospadias, Camptodacty...	ORPHA:2311
Wildervanck Syndrome	Fused cervical vertebrae	OMIM:314600
Wildervanck Syndrome	Fused cervical vertebrae, Meningocele, Short neck	ORPHA:3456
Femoral-Facial Syndrome	Renal hypoplasia/aplasia, Cryptorchidism, Abnormal sacrum morphology, Long penis, Abnormal rib mo...	ORPHA:1988
Primary Basilar Invagination	Abnormality of the cervical spine, Abnormal vertebral morphology, Short neck	ORPHA:2285
Familial Congenital Mirror Movements	Fused cervical vertebrae, Hypogonadotropic hypogonadism	ORPHA:238722
Ankylosing Vertebral Hyperostosis With Tylosis	Vertebral hyperostosis	OMIM:106400
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B	Fused thoracic vertebrae, Tarsal synostosis, Short neck, Flexion contracture, Antecubital pterygi...	OMIM:618469
Osteoarthritis With Mild Chondrodysplasia	Heberden's node, Joint stiffness, Knee osteoarthritis, Schmorl's node, Irregular vertebral endpla...	OMIM:604864
Spondylocamptodactyly Syndrome	Platyspondyly, Camptodactyly of finger, Scoliosis	ORPHA:3180
Brachyolmia, Maroteaux Type	Pectus excavatum, Short thorax, Abnormal form of the vertebral bodies, Platyspondyly, Scoliosis	ORPHA:93302
Sprengel Deformity	Rib segmentation abnormalities, Cervical segmentation defect, Hemivertebrae, Scoliosis, Sprengel ...	OMIM:184400
Poland Syndrome	Sprengel anomaly, Short ribs, Rib fusion, Hemivertebrae	OMIM:173800
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects	Renal agenesis, Unilateral renal agenesis, Pectus excavatum, Esophageal atresia, Submucous cleft ...	OMIM:619227
Spondyloepiphyseal Dysplasia Tarda, Kohn Type	Abnormality of the knee, Restricted large joint movement, Platyspondyly, Abnormality of the ankle...	ORPHA:163665
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type	Lumbar hyperlordosis, Decreased hip abduction, Pectus carinatum, Genu valgum, Irregular vertebral...	OMIM:609223
Becker Nevus Syndrome	Pectus excavatum, Kyphosis, Rib fusion, Pectus carinatum, Supernumerary ribs, Scoliosis, Spina bi...	ORPHA:64755
Vertebral Hypoplasia With Lumbar Kyphosis	Vertebral hypoplasia, Lumbar kyphosis	OMIM:192900
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome	Delayed skeletal maturation, Abnormality of the elbow, Abnormal rib morphology, Pectus carinatum,...	ORPHA:3268
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies	Renal agenesis, Unilateral renal agenesis, Ectopic kidney, Abnormal rib morphology, Cleft palate,...	OMIM:601076
Neural Tube Defects, Folate-Sensitive	Spinal dysraphism	OMIM:601634
Autosomal Dominant Brachyolmia	Increased vertebral height, Platyspondyly, Short thorax, Kyphoscoliosis	ORPHA:93304
Spondyloepiphyseal Dysplasia, Maroteaux Type	Platyspondyly, Genu valgum	OMIM:184095
Kniest Dysplasia	Arthropathy, Enlarged joints, Short neck, Delayed epiphyseal ossification, Abnormal cartilage col...	ORPHA:485
Braddock Syndrome	Unilateral renal agenesis, Missing ribs, Short neck, Pectus excavatum, Hemivertebrae, Scoliosis	ORPHA:52047
Spondylosis, Cervical	Osteoarthritis, Cervical spondylosis, Spondylolysis, Spina bifida occulta, Spondylolisthesis	OMIM:184300
Spondyloepiphyseal Dysplasia, Kimberley Type	Delayed skeletal maturation, Platyspondyly, Genu varum, Genu valgum	OMIM:608361
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism	Thoracolumbar scoliosis, Short neck, Flexion contracture, High palate, Cervical C2/C3 vertebral f...	OMIM:616549
Brachyolmia Type 1, Hobaek Type	Back pain, Osteopenia, Sclerotic foci of metaphyses of the elbow, Short neck, Kyphosis, Flat acet...	OMIM:271530
Acrodysplasia Scoliosis	Vertebral segmentation defect, Spina bifida occulta, Scoliosis	ORPHA:2956
Spondyloepiphyseal Dysplasia, Stanescu Type	Stiff neck, Kyphoscoliosis, Joint stiffness, Vertebral wedging, Platyspondyly, Beaking of vertebr...	OMIM:616583
Frontometaphyseal Dysplasia 1	Limited elbow movement, Knee flexion contracture, Increased density of long bone diaphyses, High ...	OMIM:305620
Lamb-Shaffer Syndrome	Fused cervical vertebrae, Thoracic kyphosis, Scoliosis	ORPHA:530983
Verheij Syndrome	Branchial cyst, Vertebral fusion, Joint laxity, Renal agenesis, Short neck, Hemivertebrae, Renal ...	OMIM:615583
Nephronophthisis 20	Renal insufficiency, Stage 5 chronic kidney disease, Renal cyst, Scoliosis, Nephronophthisis, Ves...	OMIM:617271
Ehlers-Danlos Syndrome, Classic-Like, 2	Osteopenia, Thoracic scoliosis, Short neck, Cryptorchidism, Facet joint arthrosis, Osteoarthritis...	OMIM:618000
Spondyloepiphyseal Dysplasia Tarda With Mental Retardation	Platyspondyly, Anterior beaking of lumbar vertebrae	OMIM:271620
Mayer-Rokitansky-Küster-Hauser Syndrome	Vertebral fusion, Abnormality of the kidney, Unilateral renal agenesis, Ectopic kidney, Abnormal ...	ORPHA:3109
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2	Renal agenesis, Ectopic kidney, Short neck, Abnormal rib morphology, Azoospermia, Vertebral segme...	ORPHA:2578
Epiphyseal Dysplasia, Multiple, 7	Advanced ossification of carpal bones, Flat acetabular roof, Vertebral wedging, Platyspondyly, Ge...	OMIM:617719
Spondyloepimetaphyseal Dysplasia, Di Rocco Type	Delayed skeletal maturation, Reduced bone mineral density, Platyspondyly, Delayed ossification of...	OMIM:617974
Ring Chromosome 21 Syndrome	Fused thoracic vertebrae, Abnormal thorax morphology, Azoospermia, Infertility, Scoliosis, Holopr...	ORPHA:1445
Brachyolmia Type 1, Toledo Type	Back pain, Kyphoscoliosis, Short neck, Precocious costochondral ossification, Irregular vertebral...	OMIM:271630
Congenital Absence Of Upper Arm And Forearm With Hand Present	Abnormal thorax morphology, Abnormality of the vertebral column, Renal agenesis, Cleft palate	ORPHA:294975
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies	Vertebral fusion, Block vertebrae, Short neck, Missing ribs, Rib fusion, Hemivertebrae, Thin ribs...	OMIM:271520
Galactosialidosis	Abnormality of the vertebral column, Abnormal vertebral morphology	ORPHA:351
Dysspondyloenchondromatosis	Joint dislocation, Enlarged joints, Kyphoscoliosis, Osteoarthritis, Generalized joint laxity, Del...	ORPHA:85198
Chopra-Amiel-Gordon Syndrome	Unilateral renal agenesis, Delayed skeletal maturation, Cleft palate, Scoliosis, Joint hypermobility	OMIM:619504
Thrombocytopenia-Absent Radius Syndrome	Abnormality of the kidney, Aplasia/Hypoplasia of the patella, Hip dislocation, Horseshoe kidney, ...	ORPHA:3320
Hogue-Janssen Syndrome 2	Prominent metopic ridge, Unilateral renal agenesis, Pectus excavatum, Hydrocephalus, Scoliosis, J...	OMIM:616362
Multiple Pterygium Syndrome, Escobar Variant	Multiple joint contractures, Short neck, Flexion contracture, Knee flexion contracture, High pala...	OMIM:265000
Kyphomelic Dysplasia	Anterior rib cupping, Joint stiffness, Missing ribs, Lateral clavicle hook, Limitation of joint m...	ORPHA:1801
Osteogenesis Imperfecta, Type Vi	Joint laxity, Protrusio acetabuli, Vertebral compression fracture, Increased susceptibility to fr...	OMIM:613982
Keratoconus Posticus Circumscriptus	Limited elbow extension and supination, Recurrent urinary tract infections, Short neck, Cleft pal...	OMIM:244600
Spondylometaphyseal Dysplasia, Type A4	Ovoid vertebral bodies, Enlargement of the costochondral junction, Flat acetabular roof, Pectus c...	OMIM:609052
Acromesomelic Dysplasia, Maroteaux Type	Ovoid vertebral bodies, Hyperlordosis, Joint stiffness, Kyphosis, Abnormal form of the vertebral ...	ORPHA:40
Fibrodysplasia Ossificans Progressiva	Small cervical vertebral bodies, Progressive cervical vertebral spine fusion, Ectopic ossificatio...	OMIM:135100
Sifrim-Hitz-Weiss Syndrome	Renal insufficiency, Wormian bones, Hypogonadotropic hypogonadism, Cryptorchidism, Flat acetabula...	OMIM:617159
Brachyolmia Type 2	Platyspondyly	OMIM:613678
Stapes Ankylosis With Broad Thumbs And Toes	Fused cervical vertebrae, Proximal/middle symphalangism of 5th finger	OMIM:184460
Mosaic Trisomy 20	Vertebral fusion, Abnormality of the kidney, Down-sloping shoulders, Kyphosis, Cryptorchidism, Sp...	ORPHA:1724
Spondylometaphyseal Dysplasia, A4 Type	Platyspondyly, Limitation of joint mobility, Flared, irregular rib ends	ORPHA:168555
Heart Defects-Limb Shortening Syndrome	Accelerated skeletal maturation, Kyphosis, Abnormal rib morphology, Abnormal form of the vertebra...	ORPHA:1354
Brachydactyly, Type B1	Vertebral fusion, Hypoplastic sacrum, Thoracolumbar scoliosis, Wide anterior fontanel, Hemiverteb...	OMIM:113000
Neurogenic Thoracic Outlet Syndrome	Abnormal rib morphology	ORPHA:100073
Atelosteogenesis, Type I	Encephalocele, 11 pairs of ribs, Long clavicles, Short neck, Thoracic platyspondyly, Cryptorchidi...	OMIM:108720
Epiphyseal Dysplasia, Multiple, With Severe Proximal Femoral Dysplasia	Irregularity of vertebral bodies, Platyspondyly, Genu valgum	OMIM:609324
Developmental And Speech Delay Due To Sox5 Deficiency	Vertebral fusion, Thoracic kyphoscoliosis, Lumbar hyperlordosis, Exaggerated median tongue furrow...	ORPHA:313892
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, Joint hypermobility, Camptodactyly	OMIM:617333
Prune Belly Syndrome	Congenital hip dislocation, Vertebral segmentation defect, Vesicoureteral reflux, Multicystic kid...	ORPHA:2970
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris	Renal hypoplasia/aplasia, Joint stiffness, Cryptorchidism, Cleft palate, Vertebral segmentation d...	ORPHA:1166
Spondylometaphyseal Dysplasia, X-Linked	Hyperextensibility of the finger joints, Hip contracture, Enlarged joints, Thoracolumbar scoliosi...	OMIM:313420
Congenital Disorder Of Glycosylation, Type Iig	Osteopenia, Thoracic scoliosis, Renal insufficiency, Hypospadias, Kyphoscoliosis, Short neck, Hem...	OMIM:611209
Intellectual Developmental Disorder, Autosomal Dominant 52	Scapular winging, Lumbar hyperlordosis, Bilateral cryptorchidism, Cryptorchidism, Pectus carinatu...	OMIM:617796
Duane-Radial Ray Syndrome	Renal malrotation, Anal stenosis, Renal agenesis, Aganglionic megacolon, Renal hypoplasia, Horses...	OMIM:607323
Spondylometaphyseal Dysplasia, Axial	Anterior rib cupping, Platyspondyly, Narrow chest, Scoliosis, Thoracic hypoplasia, Reduced sperm ...	OMIM:602271
Morquio Syndrome C	Platyspondyly	OMIM:252300
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A	Barrel-shaped chest, Vertebral fusion, Hip contracture, Elbow contracture, Multiple pterygia, Sho...	OMIM:178110
Brachydactylous Dwarfism, Mseleni Type	Osteopenia, Protrusio acetabuli, Limitation of joint mobility, Knee osteoarthritis, Platyspondyly...	ORPHA:2619
Becker Nevus Syndrome	Pectus excavatum, Cervical ribs, Hemivertebrae, Scoliosis	OMIM:604919
Endosteal Hyperostosis, Worth Type	Sclerotic vertebral body, Generalized osteosclerosis, Abnormal rib morphology, Abnormal form of t...	ORPHA:2790
Autosomal Recessive Multiple Pterygium Syndrome	Hypoplasia of penis, Camptodactyly of finger, Multiple pterygia, Pectus excavatum, Cryptorchidism...	ORPHA:2990
Osteogenesis Imperfecta, Type Ix	Recurrent fractures, Beaded ribs, Multiple prenatal fractures, Kyphosis, Pectus excavatum, Pectus...	OMIM:259440
Sacral Agenesis With Vertebral Anomalies	Absence of the sacrum, Unilateral renal agenesis, Vertebral clefting, Abnormal vertebral morpholo...	OMIM:615709
Fanconi Anemia, Complementation Group I	Short neck, Abnormal renal morphology, Renal hypoplasia, Horseshoe kidney, Fused cervical vertebr...	OMIM:609053
Pseudodiastrophic Dysplasia	Elbow dislocation, Platyspondyly, Phalangeal dislocation, Scoliosis	ORPHA:85174
Cerebrofaciothoracic Dysplasia	Short neck, Hemivertebrae, Rib fusion, Cleft palate, Vertebral segmentation defect, Narrow chest,...	ORPHA:1394
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type	Platyspondyly, Scoliosis, Genu varum	OMIM:618728
Proximal 16P11.2 Microdeletion Syndrome	Multicystic kidney dysplasia, Craniosynostosis, Pyloric stenosis, Rib fusion, Cleft palate, Scoli...	ORPHA:261197
Shashi-Pena Syndrome	Unilateral renal agenesis, Accelerated skeletal maturation, Kyphosis, Osteoporosis, Scoliosis, Ce...	OMIM:617190
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Osteopenia, Osteomyelitis, Osteolysis, Fused cervical vertebrae, Joint swelling, Flaring of rib c...	OMIM:612852
Bruck Syndrome 1	Joint laxity, Hip contracture, Protrusio acetabuli, Ankle flexion contracture, Kyphosis, Osteopor...	OMIM:259450
Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes	Kyphoscoliosis, Secondary amenorrhea, Irregular vertebral endplates, Platyspondyly, Lumbar scoliosis	OMIM:612847
Metatropic Dysplasia	Abnormal intervertebral disk morphology, Camptodactyly of finger, Abnormal enchondral ossificatio...	ORPHA:2635
Arnold-Chiari Malformation Type I	Stiff neck, Urinary incontinence, Myelopathy, Fused cervical vertebrae, Scoliosis, Cervical C2/C3...	ORPHA:268882
Pyle Disease	Abnormal thorax morphology, Reduced bone mineral density, Genu valgum, Platyspondyly, Scoliosis, ...	OMIM:265900
Axial Mesodermal Dysplasia Spectrum	Abnormality of the knee, Short neck, Missing ribs, Renal hypoplasia/aplasia, Hydrocephalus, Abnor...	ORPHA:1834
Frontometaphyseal Dysplasia	Limited elbow movement, Spina bifida occulta, Wrist flexion contracture, Bifid uvula, Dislocated ...	ORPHA:1826
Spondyloepiphyseal Dysplasia, Kimberley Type	Platyspondyly, Short thorax, Osteoarthritis	ORPHA:93283
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies	Unilateral renal agenesis, Cryptorchidism, High, narrow palate, Renal hypoplasia, Cleft palate, A...	OMIM:618494
Spinal Dysplasia, Anhalt Type	Osteoarthritis of the small joints of the hand, Thoracolumbar scoliosis, Absent spinous processes...	OMIM:601344
Caudal Regression Syndrome	Ureteral duplication, Renal insufficiency, Renal agenesis, Missing ribs, Ectopic kidney, Cryptorc...	ORPHA:3027
Spondyloepimetaphyseal Dysplasia, Handigodu Type	Abnormality of the knee, Hip contracture, Lumbar hyperlordosis, Abnormal intervertebral disk morp...	ORPHA:99642
Osteogenesis Imperfecta, Type V	Osteopenia, Hyperextensibility of the finger joints, Wormian bones, Recurrent fractures, Vertebra...	OMIM:610967
Kbg Syndrome	Vertebral fusion, Persistent open anterior fontanelle, Short neck, Cryptorchidism, Delayed skelet...	ORPHA:2332
Chromosome 8Q22.1 Duplication Syndrome	Enlarged interphalangeal joints, Genu recurvatum, Interphalangeal joint contracture of finger, Jo...	OMIM:151200
Greenberg Dysplasia	Abnormally ossified vertebrae, Abnormal pelvis bone ossification, Anterior rib punctate calcifica...	ORPHA:1426
Thakker-Donnai Syndrome	Communicating hydrocephalus, Short neck, Hemivertebrae, Tracheoesophageal fistula, Rectovaginal f...	ORPHA:1780
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome	Hypoplasia of penis, Short neck, Abnormal rib morphology, Hemivertebrae, Abnormal form of the ver...	ORPHA:2234
Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant	Barrel-shaped chest, Lumbar hyperlordosis, Kyphoscoliosis, Short neck, Avascular necrosis of the ...	OMIM:184100
Joubert Syndrome 18	Joint laxity, Occipital encephalocele, Trident pelvis, Kyphoscoliosis, Renal cyst, Horseshoe kidn...	OMIM:614815
Emanuel Syndrome	Sacral dimple, Congenital hip dislocation, Multiple joint contractures, Kyphoscoliosis, Unilatera...	ORPHA:96170
Gorlin Syndrome	Vertebral fusion, Hypogonadotropic hypogonadism, Cryptorchidism, Hydrocephalus, Hemivertebrae, Ve...	ORPHA:377
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4	Bicoronal synostosis, Camptodactyly of finger, Unilateral renal agenesis, Kyphosis, Cryptorchidis...	OMIM:619951
Emanuel Syndrome	Sacral dimple, Recurrent urinary tract infections, Congenital hip dislocation, Intestinal malrota...	OMIM:609029
Pseudoachondroplasia	Limited hip extension, Distal joint laxity, Delayed epiphyseal ossification, Osteoarthritis, Gene...	ORPHA:750
Multiple Pterygium Syndrome, X-Linked	Joint dislocation, Vertebral fusion, Abnormal cervical curvature, Multiple pterygia, Flexion cont...	OMIM:312150
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome	Vertebral fusion, Abnormality of the upper urinary tract, Elbow dislocation, Kyphosis, Hemiverteb...	ORPHA:2916
Microcephalic Osteodysplastic Dysplasia, Saul-Wilson Type	Irregularity of vertebral bodies, Platyspondyly, Hypoplasia of the odontoid process	ORPHA:85172
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies	Superior rib anomalies, Abnormality of the cervical spine	OMIM:307500
Metatropic Dysplasia	Enlarged joints, Flexion contracture, Long coccyx, Narrow chest, Flaring of rib cage, Anisospondy...	OMIM:156530
Pontine Tegmental Cap Dysplasia	Ankle clonus, Rib fusion, Hemivertebrae, Scoliosis	OMIM:614688
Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant	Platyspondyly, Premature osteoarthritis, Cleft palate	OMIM:184840
Spondyloepimetaphyseal Dysplasia, Irapa Type	Lumbar hyperlordosis, Hypoplastic sacrum, Enlargement of the costochondral junction, Osteoarthrit...	OMIM:271650
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5	Vertebral fusion, Elbow contracture, Hyperlordosis, Kyphosis, Achilles tendon contracture, Macrog...	OMIM:606612
Acropectorovertebral Dysplasia	Capitate-hamate fusion, Abnormal thorax morphology, Spina bifida occulta at S1, Spina bifida occu...	OMIM:102510
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Aplasia/Hypoplasia of the ribs, Thoracic scoliosis, Cervical hemivertebrae, Hypospadias, Renal ag...	ORPHA:508498
Microphthalmia, Syndromic 3	Vertebral fusion, Hypospadias, Hypogonadotropic hypogonadism, Missing ribs, Cryptorchidism, Esoph...	OMIM:206900
Multiple Epiphyseal Dysplasia Type 5	Back pain, Osteoarthritis of the small joints of the hand, Abnormal acetabulum morphology, Decrea...	ORPHA:93311
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome	Kyphosis, Platyspondyly, Osteoporosis	ORPHA:2786
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly	Multiple small vertebral fractures, Osteoporosis of vertebrae, Platyspondyly	OMIM:156510
Multiple Pterygium Syndrome, Lethal Type	Joint dislocation, Vertebral fusion, Abnormal cervical curvature, Multiple pterygia, Flexion cont...	OMIM:253290
Odontochondrodysplasia 1	Biconvex vertebral bodies, Genu recurvatum, Osteoporosis, Flat acetabular roof, Pectus carinatum,...	OMIM:184260
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive	Hip osteoarthritis, Platyspondyly, Osteoarthritis	OMIM:271600
Progressive Pseudorheumatoid Arthropathy Of Childhood	Irregularity of vertebral bodies, Wrist swelling, Abnormal shoulder morphology, Irregular vertebr...	ORPHA:1159
Polycystic Liver Disease 1 With Or Without Kidney Cysts	Back pain, Renal cyst	OMIM:174050
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly	Lateral clavicle hook, Trident acetabulum, Narrow chest, Short ribs, Acetabular spurs, Horizontal...	OMIM:617405
Robinow Syndrome, Autosomal Recessive 1	Short neck, Hemivertebrae, Nephrocalcinosis, Thoracic hemivertebrae, Micropenis, Dislocated radia...	OMIM:268310
Septopreoptic Holoprosencephaly	Anteriorly placed anus, Abnormal rib morphology, Abnormal vertebral morphology, Ethmoidal encepha...	ORPHA:280195
Osteogenesis Imperfecta, Type Xv	Recurrent fractures, Thin ribs, Platyspondyly, Bowing of limbs due to multiple fractures, Scolios...	OMIM:615220
Pallister-Hall Syndrome	Renal dysplasia, Decreased testicular size, Hydroureter, Distal urethral duplication, Ectopic kid...	OMIM:146510
Thoracolaryngopelvic Dysplasia	Irregular chondrocostal junctions, Bell-shaped thorax, Irregular vertebral endplates, Short ribs,...	OMIM:187760
Gm1-Gangliosidosis, Type Iii	Kyphosis, Platyspondyly, Scoliosis, Anterior beaking of lumbar vertebrae, Hypoplastic acetabulae	OMIM:230650
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5	Vertebral fusion, Exercise-induced myoglobinuria, Hyperlordosis, Kyphosis, Achilles tendon contra...	OMIM:607155
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1	Vertebral fusion, Sacral dimple, Hyperextensibility of the finger joints, Unilateral renal agenes...	OMIM:213980
Acrodysostosis 1 With Or Without Hormone Resistance	Unilateral renal agenesis, Accelerated skeletal maturation, Cryptorchidism, Hydrocephalus, Neonat...	OMIM:101800
Spina Bifida-Hypospadias Syndrome	Spina bifida, Spinal dysraphism	ORPHA:3176
Atelosteogenesis, Type Ii	Lumbar hyperlordosis, Cervical kyphosis, Short neck, Increased intervertebral space, Lacunar halo...	OMIM:256050
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type	Short neck, Pectus carinatum, Reduced bone mineral density, High palate, Abnormal bone ossificati...	ORPHA:93315
Joubert Syndrome 7	Encephalocele, Stage 5 chronic kidney disease, Renal cyst, Genu valgum, Scoliosis, Nephronophthisis	OMIM:611560
Cutis Laxa, Autosomal Dominant 3	Os odontoideum, Osteopenia, Joint laxity, Unilateral renal agenesis, Hip dislocation, Wormian bon...	OMIM:616603
Neural Tube Defects, Susceptibility To	Absence of the sacrum, Sacral dimple, Urinary incontinence, Asymmetry of spinal facet joints, Mye...	OMIM:182940
Aarskog-Scott Syndrome	Genu recurvatum, Camptodactyly of finger, Short neck, Pectus excavatum, Cryptorchidism, Cleft pal...	ORPHA:915
Lateral Meningocele Syndrome	Vertebral fusion, Neurogenic bladder, Short neck, Pectus excavatum, Kyphosis, Cryptorchidism, Men...	OMIM:130720
Kbg Syndrome	Vertebral fusion, Short neck, Epispadias, Cryptorchidism, Delayed skeletal maturation, Rib fusion...	OMIM:148050
Mesomelic Dysplasia, Kantaputra Type	Camptodactyly of finger, Tarsal synostosis, Abnormal rib morphology, Vertebral segmentation defec...	ORPHA:1836
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	High, narrow palate, Flexion contracture, Anteriorly placed anus, Narrow chest, Vesicoureteral re...	ORPHA:95699
Diaphanospondylodysostosis	Delayed vertebral ossification, Absent in utero ossification of vertebral bodies, Nephrogenic res...	OMIM:608022
Leopard Syndrome 1	Scapular winging, Hypospadias, Kyphoscoliosis, Missing ribs, Short neck, Unilateral renal agenesi...	OMIM:151100
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome	Abnormal intervertebral disk morphology, Joint stiffness, Osteoarthritis, Platyspondyly, Avascula...	ORPHA:1345
Alkaptonuria	Arthropathy, Vertebral fusion, Low back pain, Kyphosis, Elevated urinary homogentisic acid, Nephr...	OMIM:203500
Mucopolysaccharidosis, Type Iva	Short neck, Pectus carinatum, Anterior beaking of lumbar vertebrae, Flaring of rib cage, Chondroi...	OMIM:253000
Femoral-Facial Syndrome	Renal agenesis, Abnormal renal collecting system morphology, Missing ribs, Limited elbow movement...	OMIM:134780
Apert Syndrome	Limited elbow movement, Sagittal craniosynostosis, Craniosynostosis, Cryptorchidism, Delayed epip...	OMIM:101200
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3	Joint laxity, Short neck, Multiple joint dislocation, Hip dislocation, Thin ribs, Irregular verte...	OMIM:618395
Juberg-Hayward Syndrome	Hypospadias, Abnormality of the elbow, Abnormal rib morphology, Horseshoe kidney, Anteriorly plac...	ORPHA:2319
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies	Osteopenia, Proteinuria, Avascular necrosis of the capital femoral epiphysis, Delayed skeletal ma...	OMIM:611555
Koolen-De Vries Syndrome	Ureteral duplication, Vertebral fusion, Hypospadias, Pectus excavatum, Kyphosis, Cryptorchidism, ...	ORPHA:96169
Spondyloepiphyseal Dysplasia Tarda	Back pain, Osteoarthritis of the distal interphalangeal joint, Limited elbow movement, Short neck...	ORPHA:93284
Meckel Syndrome, Type 8	Encephalocele, Occipital encephalocele, Short neck, Cleft palate, Narrow chest, Polycystic kidney...	OMIM:613885
Thanatophoric Dysplasia Type 2	Encephalocele, Abnormality of the kidney, Kyphosis, Hydrocephalus, Short thorax, Limitation of jo...	ORPHA:93274
Bruck Syndrome 2	Osteopenia, Wormian bones, Flexion contracture, Elbow flexion contracture, Pectus carinatum, Incr...	OMIM:609220
Vacterl/Vater Association	Occipital encephalocele, Hypoplasia of penis, Abnormal intervertebral disk morphology, Multicysti...	ORPHA:887
Otopalatodigital Syndrome Type 1	Increased bone mineral density, Elbow dislocation, Limitation of joint mobility, Cleft palate, Ab...	ORPHA:90650
Short-Rib Thoracic Dysplasia 18 With Polydactyly	Intestinal malrotation, Missing ribs, Hydrocephalus, Vertebral wedging, Platyspondyly, Decreased ...	OMIM:617866
Spondyloepiphyseal Dysplasia Congenita	Barrel-shaped chest, Lumbar hyperlordosis, Ovoid vertebral bodies, Limited elbow movement, Short ...	OMIM:183900
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome	Abnormal rib morphology	ORPHA:2435
Caudal Duplication	Abnormal penis morphology, Ureteral duplication, Spina bifida, Renal hypoplasia/aplasia, Cryptorc...	ORPHA:1756
Spondylometaphyseal Dysplasia, Kozlowski Type	Enlarged joints, Kyphoscoliosis, Short neck, Hypoplasia of the odontoid process, Delayed skeletal...	OMIM:184252
Spondyloepiphyseal Dysplasia Tarda, X-Linked	Back pain, Barrel-shaped chest, Lumbar hyperlordosis, Short neck, Kyphosis, Limitation of joint m...	OMIM:313400
Spondyloepimetaphyseal Dysplasia, Irapa Type	Osteoarthritis, Limitation of joint mobility, Abnormal rib morphology, Abnormal carpal morphology...	ORPHA:93351
Aicardi Syndrome	Block vertebrae, Spina bifida, Missing ribs, Hiatus hernia, Rib fusion, Hemivertebrae, Cleft pala...	OMIM:304050
Apert Syndrome	Esophageal atresia, Hydrocephalus, Cervical C5/C6 vertebrae fusion, Narrow palate, Cleft palate, ...	ORPHA:87
Autosomal Recessive Robinow Syndrome	Sacral dimple, Hypoplasia of penis, Multicystic kidney dysplasia, Camptodactyly of finger, Short ...	ORPHA:1507
Thrombocytopenia-Absent Radius Syndrome	Carpal synostosis, Ureteral duplication, Renal malrotation, Spina bifida, Lateral clavicle hook, ...	OMIM:274000
Progressive Pseudorheumatoid Dysplasia	Arthropathy, Enlarged interphalangeal joints, Camptodactyly of finger, Kyphoscoliosis, Joint stif...	OMIM:208230
Spondylocarpotarsal Synostosis Syndrome	Vertebral fusion, Scapular winging, Block vertebrae, Tarsal synostosis, Hyperlordosis, Short neck...	OMIM:272460
Isolated Polycystic Liver Disease	Back pain, Multiple renal cysts	ORPHA:2924
Hypogonadotropic Hypogonadism 3 With Or Without Anosmia	Hypogonadotropic hypogonadism, Unilateral renal agenesis, Pectus excavatum, Cryptorchidism, Prima...	OMIM:244200
Hall-Riggs Syndrome	Kyphosis, Delayed skeletal maturation, Osteoporosis, Irregular vertebral endplates, Platyspondyly...	OMIM:234250
Pseudodiastrophic Dysplasia	Lumbar hyperlordosis, Phalangeal dislocation, Short neck, Elbow dislocation, Hypoplasia of the od...	OMIM:264180
Multiple Epiphyseal Dysplasia, Beighton Type	Low back pain, Thoracic scoliosis, Abnormal acetabulum morphology, Joint stiffness, Thoracic plat...	ORPHA:166011
Dental Anomalies And Short Stature	Delayed skeletal maturation, Platyspondyly, Herniation of intervertebral nuclei, Scoliosis, Narro...	OMIM:601216
Basal Cell Nevus Syndrome 1	Vertebral fusion, Down-sloping shoulders, Spina bifida, Kyphoscoliosis, Hydrocephalus, Hamartomat...	OMIM:109400
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness	Lumbar hyperlordosis, Cupped ribs, Flat acetabular roof, Irregular vertebral endplates, Platyspon...	OMIM:609616
Spondyloepimetaphyseal Dysplasia, Strudwick Type	Anterior rib cupping, Hyperlordosis, Hypoplasia of the odontoid process, Cleft palate, Pectus car...	OMIM:184250
Schneckenbecken Dysplasia	Hypoplastic scapulae, Anterior rib cupping, Ovoid vertebral bodies, Short neck, Lateral clavicle ...	OMIM:269250
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome	Abnormal clavicle morphology, Short neck, Abnormal rib morphology, Platyspondyly, Narrow chest, D...	ORPHA:93267
Idiopathic Juvenile Osteoporosis	Recurrent fractures, Kyphosis, Bone pain, Osteoporosis, Vertebral compression fracture	ORPHA:85193
Autosomal Recessive Stickler Syndrome	Cleft palate, Genu valgum, Irregular vertebral endplates, Platyspondyly, Joint hyperflexibility	ORPHA:250984
Osteogenesis Imperfecta, Type Xxi	Barrel-shaped chest, Recurrent fractures, Pectus excavatum, Osteoporosis, Bell-shaped thorax, Pla...	OMIM:619131
Aicardi Syndrome	Intestinal polyposis, Block vertebrae, Missing ribs, Hiatus hernia, Malabsorption, Rib fusion, Cl...	ORPHA:50
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome	Increased bone mineral density, Ovoid vertebral bodies, Short neck, Wide anterior fontanel, Abnor...	ORPHA:163649
Axial Spondylometaphyseal Dysplasia	Osteopenia, Aplasia/Hypoplasia of the vertebrae, Thoracic scoliosis, Aplasia/Hypoplasia of the ri...	ORPHA:168549
Mosaic Trisomy 14	Hypoplasia of penis, Hypospadias, Camptodactyly of finger, Short neck, Cryptorchidism, Abnormal r...	ORPHA:1703
Frontometaphyseal Dysplasia 2	Hip contracture, Neurogenic bladder, Congenital hip dislocation, Elbow contracture, Pectus excava...	OMIM:617137
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects	Hypoplastic scapulae, Congenital hip dislocation, Unilateral renal agenesis, Flexion contracture,...	OMIM:308050
Smith-Mccort Dysplasia 1	Barrel-shaped chest, Multicentric femoral head ossification, Hypoplastic scapulae, Short neck, Hy...	OMIM:607326
Ollier Disease	Joint stiffness, Abnormal cartilage morphology, Bone pain, Osteolysis, Multiple enchondromatosis,...	ORPHA:296
Chops Syndrome	Tracheomalacia, Cryptorchidism, High, narrow palate, Horseshoe kidney, Vesicoureteral reflux, Cer...	OMIM:616368
Spondylometaphyseal Dysplasia With Corneal Dystrophy	Increased intervertebral space, Thoracic platyspondyly, Short ribs, Narrow chest, Beaking of vert...	OMIM:618961
Mucopolysaccharidosis, Type X	Irregular acetabular roof, Spatulate ribs, Hyperlordosis, Broad clavicles, Nephrolithiasis, Derma...	OMIM:619698
Fibrochondrogenesis 2	Cupped ribs, Bell-shaped thorax, Platyspondyly, Short ribs, Thoracic hypoplasia	OMIM:614524
Robinow Syndrome	Fused thoracic vertebrae, Multicystic kidney dysplasia, Kyphoscoliosis, Missing ribs, Webbed peni...	ORPHA:97360
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome	Hydrocephalus, Abnormal rib morphology, Hemivertebrae, Abnormal form of the vertebral bodies, Hig...	ORPHA:2180
Bruck Syndrome	Recurrent fractures, Joint stiffness, Kyphosis, Osteoporosis, Platyspondyly, Scoliosis, Wormian b...	ORPHA:2771
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type	Abnormally ossified vertebrae, Restricted large joint movement, Glossoptosis, Platyspondyly, Dela...	ORPHA:93346
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type	Lumbar hyperlordosis, Ovoid vertebral bodies, Pectus excavatum, Limited elbow extension, Flat ace...	OMIM:608728
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly	Short neck, Renal hypoplasia, Renal cyst, Ureteral agenesis, Hydranencephaly, Arthrogryposis mult...	OMIM:236500
Stickler Syndrome Type 1	Osteoarthritis, Cleft palate, Joint hyperflexibility, Platyspondyly, Abnormal vertebral epiphysis...	ORPHA:90653
Nevus Comedonicus Syndrome	Spina bifida occulta, Scoliosis, Abnormal vertebral morphology, Spina bifida	ORPHA:64754
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome	Platyspondyly, Osteoporosis	ORPHA:71267
Spondyloperipheral Dysplasia-Short Ulna Syndrome	Ovoid vertebral bodies, Abnormality of the vertebral endplates, Limited elbow extension, Cleft pa...	ORPHA:1856
Rhizomelic Dysplasia, Ain-Naz Type	Platyspondyly, Limitation of joint mobility	OMIM:619598
Atelosteogenesis Type I	Joint dislocation, Malrotation of colon, Abnormal ossification involving the femoral head and nec...	ORPHA:1190
Fraser Syndrome 2	Renal agenesis, Intestinal malrotation, Unilateral renal agenesis, Short neck, Short thorax, Rect...	OMIM:617666
Meckel Syndrome, Type 10	Occipital encephalocele, Sacral dimple, Hypospadias, Anencephaly, Renal cyst, Cleft palate, Campt...	OMIM:614175
Thanatophoric Dysplasia	Abnormality of the kidney, Joint stiffness, Abnormal sacroiliac joint morphology, Kyphosis, Short...	ORPHA:2655
Otopalatodigital Syndrome Type 2	Encephalocele, Increased bone mineral density, Hypospadias, Tarsal synostosis, Camptodactyly of f...	ORPHA:90652
White Forelock With Malformations	Delayed skeletal maturation, Abnormal rib morphology, Joint hyperflexibility, Sprengel anomaly, S...	ORPHA:2475
Diastrophic Dysplasia	Joint dislocation, Abnormal clavicle morphology, Increased bone mineral density, Camptodactyly of...	ORPHA:628
Brachyolmia Type 3	Barrel-shaped chest, Short neck, Kyphosis, Platyspondyly, Scoliosis	OMIM:113500
Chondroectodermal Dysplasia With Night Blindness	Osteopenia, Abnormality of the knee, Fractures of the long bones, Delayed skeletal maturation, Os...	ORPHA:319195
Geroderma Osteodysplastica	Recurrent fractures, Vertebral compression fracture, Osteoporosis, Abnormal form of the vertebral...	ORPHA:2078
Takenouchi-Kosaki Syndrome	Hypospadias, Unilateral renal agenesis, Cryptorchidism, Abnormal sternum morphology, Scoliosis, C...	OMIM:616737
Campomelia, Cumming Type	Multicystic kidney dysplasia, Abnormally ossified vertebrae, Pancreatic cysts, Abnormal thorax mo...	ORPHA:1318
Larsen Syndrome	Joint laxity, Vertebral fusion, Cervical kyphosis, Pectus excavatum, Cryptorchidism, Elbow disloc...	OMIM:150250
Cardiospondylocarpofacial Syndrome	Carpal synostosis, Joint laxity, Tarsal synostosis, Delayed skeletal maturation, Rib fusion, Hors...	OMIM:157800
Cenani-Lenz Syndactyly Syndrome	Renal agenesis, Ectopic kidney, Pectus excavatum, Hemivertebrae, Renal hypoplasia, Radioulnar syn...	OMIM:212780
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	11 pairs of ribs, Hydrocephalus, Thin ribs, Platyspondyly, Decreased skull ossification	OMIM:300863
Osteogenesis Imperfecta, Type Xiii	Increased bone mineral density, Recurrent fractures, Kyphoscoliosis, Osteoporosis, Enuresis noctu...	OMIM:614856
Thanatophoric Dysplasia, Type Ii	Small abnormally formed scapulae, Wide-cupped costochondral junctions, Platyspondyly, Short ribs,...	OMIM:187601
Spondylometaphyseal Dysplasia, Pagnamenta Type	Delayed skeletal maturation, Platyspondyly, Wormian bones, Thoracic kyphosis	OMIM:619638
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Flexion contracture of finger, Hypospadias, Unilateral renal agenesis, Ankle flexion contracture,...	ORPHA:464311
Neurofacioskeletal Syndrome With Or Without Renal Agenesis	Hip contracture, Hydroureter, Unilateral renal agenesis, Short neck, Pectus excavatum, Kyphosis, ...	OMIM:619194
Neuronal Intranuclear Inclusion Disease	Spina bifida occulta, Scoliosis, Abnormal form of the vertebral bodies	ORPHA:2289
Anencephaly 1	Anencephaly, Spina bifida	OMIM:206500
Radio-Renal Syndrome	Multicystic kidney dysplasia, Renal agenesis, Renal hypoplasia/aplasia, Short neck, High, narrow ...	ORPHA:3015
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy	Ovoid vertebral bodies, Joint stiffness, Cupped ribs, Platyspondyly, Scoliosis, Severe platyspondyly	OMIM:608940
Branchiootorenal Syndrome 1	Branchial cyst, Branchial fistula, Renal malrotation, Congenital hip dislocation, Intestinal malr...	OMIM:113650
Slc39A13-Related Spondylodysplastic Ehlers-Danlos Syndrome	Osteopenia, Platyspondyly, Flexion contracture	ORPHA:157965
Cog1-Cdg	Osteopenia, Irregularity of vertebral bodies, Kyphoscoliosis, Short neck, Rib fusion, Posterior r...	ORPHA:263508
Bardet-Biedl Syndrome 16	Renal insufficiency, Renal agenesis, Stage 5 chronic kidney disease, Renal cyst, Hypogonadism, Re...	OMIM:615993
Wolf-Hirschhorn Syndrome	Rib segmentation abnormalities, Sacral dimple, Hypospadias, Abnormality of the kidney, Kyphosis, ...	ORPHA:280
Inverted Duplicated Chromosome 15 Syndrome	Unilateral renal agenesis, Cryptorchidism, High palate, Hypogonadism, Joint hypermobility	ORPHA:3306
Mucopolysaccharidosis Type 4	Joint dislocation, Hyperlordosis, Short neck, Kyphosis, Delayed skeletal maturation, Short thorax...	ORPHA:582
7Q11.23 Microduplication Syndrome	Sacral dimple, Hypospadias, Unilateral renal agenesis, Short neck, Pectus excavatum, Cryptorchidi...	ORPHA:96121
Mucopolysaccharidosis, Type Ivb	Joint laxity, Ulnar deviation of the wrist, Ovoid vertebral bodies, Hyperlordosis, Joint stiffnes...	OMIM:253010
Lethal Congenital Contracture Syndrome Type 1	Recurrent fractures, Short neck, Limitation of joint mobility, Abnormal rib morphology, Abnormali...	ORPHA:1486
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Long clavicles, Cryptorchidism, Contracture of the distal interphalangeal joint of the fingers, P...	ORPHA:83617
Spondyloepimetaphyseal Dysplasia, Shohat Type	Joint laxity, Lumbar hyperlordosis, Short neck, Delayed epiphyseal ossification, Genu varum, Bell...	OMIM:602557
Pseudoachondroplasia	Joint laxity, Lumbar hyperlordosis, Genu recurvatum, Limited hip extension, Spatulate ribs, Ulnar...	OMIM:177170
Hypophosphatasia, Infantile	Elevated urine pyrophosphate, Craniosynostosis, Vertebral clefting, Hypercalciuria, Increased sus...	OMIM:241500
Trisomy 20P	Hypospadias, Abnormality of the kidney, Spina bifida, Short neck, Camptodactyly of finger, Kyphos...	ORPHA:261318
Osteogenesis Imperfecta, Type Ii	Recurrent fractures, Beaded ribs, Multiple prenatal fractures, Absent ossification of calvaria, T...	OMIM:166210
Bardet-Biedl Syndrome 10	Renal insufficiency, Hypogonadism, Renal cyst	OMIM:615987
Hyperparathyroidism, Transient Neonatal	Osteopenia, Communicating hydrocephalus, Wide cranial sutures, Recurrent fractures, Unilateral re...	OMIM:618188
Cole-Carpenter Syndrome 2	Osteopenia, Wide cranial sutures, Recurrent fractures, Pectus excavatum, Kyphosis, Hydrocephalus,...	OMIM:616294
Zttk Syndrome	Polyuria, Unilateral renal agenesis, Craniosynostosis, Kyphosis, Flexion contracture, Rib fusion,...	OMIM:617140
Spondylometaphyseal Dysplasia, Kozlowski Type	Increased intervertebral space, Delayed epiphyseal ossification, Pectus carinatum, Thoracic kypho...	ORPHA:93314
Spondyloepimetaphyseal Dysplasia, Missouri Type	Irregular sclerotic endplates, Osteoarthritis, Delayed skeletal maturation, Platyspondyly, Flared...	OMIM:602111
Kniest Dysplasia	Hip contracture, Enlarged joints, Short neck, Pectus excavatum, Abnormal cartilage collagen, Dela...	OMIM:156550
Vacterl Association With Hydrocephalus	Aqueductal stenosis, Hydrocephalus, Renal hypoplasia, Abnormality of the vertebral column, Abnorm...	OMIM:276950
Chromosome 17Q12 Deletion Syndrome	Hypoplasia of the bladder, Multicystic kidney dysplasia, Recurrent urinary tract infections, Unil...	OMIM:614527
Spondyloepimetaphyseal Dysplasia, Shohat Type	Joint laxity, Hyperlordosis, Short neck, Delayed epiphyseal ossification, Premature osteoarthriti...	ORPHA:93352
Imperforate Oropharynx-Costovertebral Anomalies Syndrome	Aplasia/Hypoplasia of the tongue, Missing ribs, Abnormal rib morphology, Hemivertebrae, Abnormal ...	ORPHA:2759
Metaphyseal Chondrodysplasia, Schmid Type	Lumbar hyperlordosis, Anterior rib cupping, Irregular vertebral endplates, Osteosclerosis of ribs...	ORPHA:174
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Osteopenia, Multiple rib fractures, Hypospadias, Fractured radius, Beaded ribs, Short neck, Multi...	OMIM:616897
Lethal Kniest-Like Dysplasia	Anterior rib cupping, Short neck, Wide anterior fontanel, Abnormal cartilage morphology, Abnormal...	ORPHA:2347
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs	Hydranencephaly, Cleft palate, Unilateral renal agenesis	OMIM:601355
Harrod Syndrome	Multicystic kidney dysplasia, Hypospadias, Kyphosis, Cryptorchidism, Abnormal shoulder morphology...	ORPHA:2115
Combined Oxidative Phosphorylation Deficiency 47	Cryptorchidism, Platyspondyly, Short neck	OMIM:618958
Phaver Syndrome	Camptodactyly of finger, Joint stiffness, Myelomeningocele, Abnormal rib morphology, Abnormal for...	ORPHA:2876
Dyrk1A-Related Intellectual Disability Syndrome	Multiple joint contractures, Hypospadias, Unilateral renal agenesis, Pectus excavatum, Kyphosis, ...	ORPHA:464306
Mucopolysaccharidosis, Type Iiia	Thickened ribs, Joint stiffness, Heparan sulfate excretion in urine, Ovoid thoracolumbar vertebra...	OMIM:252900
Schwartz-Jampel Syndrome, Type 1	Hip contracture, Lumbar hyperlordosis, Congenital hip dislocation, Cervical kyphosis, Kyphoscolio...	OMIM:255800
Odontochondrodysplasia	Joint hyperflexibility, Platyspondyly, Narrow chest, Scoliosis	ORPHA:166272
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies	Pectus excavatum, Hypoplastic distal segments of scapulae, Abnormal rib morphology, Joint hypermo...	OMIM:602196
Laryngotracheoesophageal Cleft Type 4	Abnormal rib morphology, Tracheoesophageal fistula, Abnormal form of the vertebral bodies, Intest...	ORPHA:93941
Rhizomelic Dysplasia, Patterson-Lowry Type	Platyspondyly	OMIM:601438
Osteogenesis Imperfecta, Type Xvi	Osteopenia, Multiple rib fractures, Recurrent fractures, Beaded ribs, Platyspondyly, Decreased ca...	OMIM:616229
Baller-Gerold Syndrome	Limited elbow movement, Patellar hypoplasia, Anteriorly placed anus, High palate, Spina bifida oc...	OMIM:218600
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome	Prominent metopic ridge, Unilateral renal agenesis, Pectus excavatum, Hydrocephalus, Scoliosis, J...	ORPHA:457284
Polycystic Kidney Disease 7	Renal insufficiency, Renal atrophy, Stage 5 chronic kidney disease, Multiple renal cysts, Renal i...	OMIM:620056
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3	Osteopenia, Ureteral stenosis, Hydroureter, Pectus excavatum, Delayed skeletal maturation, Osteop...	OMIM:615398
Cantu Syndrome	Ovoid vertebral bodies, Short neck, Delayed skeletal maturation, Cuboid-shaped vertebral bodies, ...	OMIM:239850
Cervical Ribs, Sprengel Anomaly, Anal Atresia, And Urethral Obstruction	Thoracolumbar scoliosis, Renal hypoplasia, Hypertrophy of the urinary bladder, Urethral obstructi...	OMIM:601389
Metaphyseal Chondrodysplasia, Schmid Type	Lumbar hyperlordosis, Distal tibial bowing, Genu valgum, Irregular vertebral endplates, Platyspon...	OMIM:156500
Sillence Syndrome	Back pain, Flat acetabular roof, Platyspondyly, Scoliosis, Camptodactyly, Abnormal vertebral morp...	ORPHA:3168
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia	Long clavicles, Lateral clavicle hook, Elbow dislocation, Anterior vertebral fusion, Shoulder dis...	OMIM:171480
Hajdu-Cheney Syndrome	Osteopenia, Short neck, Renal cyst, High palate, Dislocated radial head, Joint laxity, Hypospadia...	OMIM:102500
Stickler Syndrome, Type I	Arthropathy, Joint stiffness, Pectus excavatum, Kyphosis, Osteoarthritis, Submucous cleft hard pa...	OMIM:108300
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	Prominent metopic ridge, Multiple joint contractures, Hypospadias, Camptodactyly of finger, Unila...	ORPHA:468631
Coach Syndrome 1	Encephalocele, Occipital encephalocele, Unilateral renal agenesis, Multiple small medullary renal...	OMIM:216360
Marden-Walker Syndrome	Epispadias, Abnormal form of the vertebral bodies, Pectus carinatum, Bifid uvula, Abnormal penis ...	ORPHA:2461
Syndromic Recessive X-Linked Ichthyosis	Renal insufficiency, Unilateral renal agenesis, Abnormal stomach morphology, Cryptorchidism, Hypo...	ORPHA:281090
Mosaic Trisomy 9	Hypoplasia of penis, Camptodactyly of finger, Spina bifida, Short neck, Elbow dislocation, Crypto...	ORPHA:99776
Koolen-De Vries Syndrome	Vertebral fusion, Sacral dimple, Recurrent urinary tract infections, Prominent metopic ridge, Pec...	OMIM:610443
Cerebrocostomandibular Syndrome	Multicystic kidney dysplasia, Spina bifida, Tracheomalacia, Kyphosis, Myelomeningocele, Meningoce...	ORPHA:1393
Distal Triplication 15Q	Abnormality of the kidney, Craniosynostosis, Kyphosis, Hydrocephalus, Flexion contracture, Dilata...	ORPHA:314588
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies	Osteopenia, Recurrent urinary tract infections, Unilateral renal agenesis, Hyperlordosis, Arthrit...	ORPHA:221139
Melnick-Needles Syndrome	Delayed cranial suture closure, Short thorax, Abnormal rib morphology, Hip dislocation, Osteolyti...	ORPHA:2484
Trisomy X	Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Pectus excavatum, Secondary amenorrhea, J...	ORPHA:3375
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type	Joint laxity, Kyphoscoliosis, Hip subluxation, Kyphosis, Delayed epiphyseal ossification, General...	ORPHA:93360
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus	Barrel-shaped chest, Renal insufficiency, Hyperlordosis, Hypoplasia of the odontoid process, Irre...	OMIM:226980
Spondyloepiphyseal Dysplasia Congenita	Back pain, Barrel-shaped chest, Abnormally ossified vertebrae, Lumbar hyperlordosis, Limited elbo...	ORPHA:94068
Tetraamelia-Multiple Malformations Syndrome	Multicystic kidney dysplasia, Abnormally ossified vertebrae, Missing ribs, Cryptorchidism, Hydroc...	ORPHA:3301
Mucopolysaccharidosis, Type Vii	Spatulate ribs, Short neck, Accelerated skeletal maturation, Flexion contracture, Pectus carinatu...	OMIM:253220
Bresek Syndrome	Decreased testicular size, Hypoplasia of the bladder, Aganglionic megacolon, Cryptorchidism, Hydr...	ORPHA:85284
Thanatophoric Dysplasia, Type I	Small abnormally formed scapulae, Short neck, Wide-cupped costochondral junctions, Hydrocephalus,...	OMIM:187600
Osteogenesis Imperfecta, Type X	Osteopenia, Multiple rib fractures, Thoracic scoliosis, Joint laxity, Pyloric stenosis, Generaliz...	OMIM:613848
Cooper-Jabs Syndrome	Camptodactyly of finger, Missing ribs, Abnormal rib morphology, Reduced bone mineral density, Ant...	ORPHA:1488
Williams-Beuren Region Duplication Syndrome	Unilateral renal agenesis, Cryptorchidism, Hydrocephalus, High palate, Hydronephrosis	OMIM:609757
Calvarial Doughnut Lesions With Bone Fragility	Osteopenia, Recurrent fractures, Osteoporosis, Platyspondyly, Scoliosis	OMIM:126550
Distal 22Q11.2 Microduplication Syndrome	Branchial fistula, Sacral dimple, Camptodactyly of finger, Unilateral renal agenesis, Cryptorchid...	ORPHA:261337
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3	Osteopenia, Joint laxity, Camptodactyly of finger, Kyphoscoliosis, Irregular vertebral endplates,...	OMIM:612350
Kaposiform Lymphangiomatosis	Abnormal thoracic spine morphology, Metrorrhagia, Abnormal scapula morphology, Pancreatic cysts, ...	ORPHA:464329
Dyggve-Melchior-Clausen Disease	Short neck, Flat glenoid fossa, Pectus carinatum, Thoracic kyphosis, Multicentric ossification of...	OMIM:223800
Anauxetic Dysplasia 3	Thoracolumbar kyphoscoliosis, Pectus excavatum, Wide anterior fontanel, Genu valgum, Platyspondyl...	OMIM:618853
Congenital Disorder Of Glycosylation, Type Il	Short neck, Kyphosis, Delayed skeletal maturation, Hip dislocation, Polycystic kidney dysplasia	OMIM:608776
Fanconi Anemia, Complementation Group L	Hypoplastic sacrum, Unilateral renal agenesis, Short neck, Esophageal atresia, Hydrocephalus, Ren...	OMIM:614083
Dyggve-Melchior-Clausen Disease	Glenoid fossa hypoplasia, Short neck, Abnormality of the vertebral endplates, Hypoplasia of the o...	ORPHA:239
Osteogenesis Imperfecta, Type Xviii	Joint laxity, Recurrent fractures, Joint hypermobility, Thin ribs, Biconcave vertebral bodies, Wo...	OMIM:617952
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type	Wormian bones, Wide anterior fontanel, Platyspondyly	OMIM:601356
Trisomy 13	Kyphosis, Cryptorchidism, High, narrow palate, Abnormal rib morphology, Abnormality of the ureter...	ORPHA:3378
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome	Recurrent urinary tract infections, Premature ovarian insufficiency, Hypospadias, Abnormality of ...	ORPHA:363444
RCAD (renal cysts and diabetes)	Multiple renal cysts	DECIPHER:47
Anauxetic Dysplasia 1	Barrel-shaped chest, Joint laxity, Hip contracture, Lumbar hyperlordosis, Short neck, Limited elb...	OMIM:607095
Cenani-Lenz Syndrome	Renal hypoplasia/aplasia, Elbow dislocation, High, narrow palate, Abnormal rib morphology, Hip di...	ORPHA:3258
Autosomal Recessive Primary Microcephaly	Vesicoureteral reflux, Unilateral renal agenesis	ORPHA:2512
Acrofacial Dysostosis 1, Nager Type	Aganglionic megacolon, Unilateral renal agenesis, Aqueductal stenosis, Velopharyngeal insufficien...	OMIM:154400
Smith-Mccort Dysplasia 2	Barrel-shaped chest, Enlarged interphalangeal joints, Hyperlordosis, Short neck, Hypoplasia of th...	OMIM:615222
Holzgreve Syndrome	Abnormally ossified vertebrae, Aplasia/Hypoplasia of the tongue, Joint stiffness, Renal hypoplasi...	ORPHA:2167
Spondylo-Ocular Syndrome	Abnormal intervertebral disk morphology, Short neck, Osteoporosis, Joint hyperflexibility, Platys...	ORPHA:85194
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome	Bilateral cryptorchidism, Sacral dimple, Rib fusion, Celiac disease	ORPHA:544488
Papillorenal Syndrome	Joint laxity, Renal malrotation, Multicystic kidney dysplasia, Proteinuria, Absence of renal cort...	OMIM:120330
Renal Hypoplasia	Renal insufficiency, Urethral valve, Proteinuria, Recurrent urinary tract infections, Unilateral ...	ORPHA:93101
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy	Anterior rib cupping, Kyphoscoliosis, Short neck, Hypoplasia of the odontoid process, Delayed ske...	OMIM:300232
Wolf-Hirschhorn Syndrome	Rib segmentation abnormalities, Vertebral fusion, Sacral dimple, Hypospadias, Kyphosis, Cryptorch...	OMIM:194190
Myoectodermal Gonadal Dysgenesis Syndrome	Unilateral renal agenesis, Pyloric stenosis, Delayed skeletal maturation, Scoliosis, Limited elbo...	OMIM:618419
Infantile-Onset X-Linked Spinal Muscular Atrophy	Hip contracture, Interphalangeal joint contracture of finger, Kyphoscoliosis, Ankle flexion contr...	ORPHA:1145
Alagille Syndrome	Renal hypoplasia/aplasia, Cryptorchidism, Delayed skeletal maturation, Abnormal rib morphology, A...	ORPHA:52
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome	Micropenis, Crossed fused renal ectopia, High palate, Unilateral renal agenesis	OMIM:618142
Platyspondylic Dysplasia, Torrance Type	Hypoplastic scapulae, Short thorax, Abnormal carpal morphology, Cleft palate, Platyspondyly, Narr...	ORPHA:85166
3M Syndrome	Scapular winging, Congenital hip dislocation, Hypospadias, Hyperlordosis, Short neck, Increased v...	ORPHA:2616
Hirschsprung Disease With Polydactyly, Renal Agenesis, And Deafness	Aganglionic megacolon, Unilateral renal agenesis	OMIM:235740
Cole-Carpenter Syndrome	Communicating hydrocephalus, Recurrent fractures, Kyphosis, Abnormal rib morphology, Abnormal for...	ORPHA:2050
Congenital Pseudoarthrosis Of The Clavicle	Congenital pseudoarthrosis of the clavicle, Osteoarthritis, Cervical ribs	ORPHA:66630
Osteogenesis Imperfecta, Type Iii	Recurrent fractures, Protrusio acetabuli, Severe generalized osteoporosis, Multiple prenatal frac...	OMIM:259420
Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome	Pectus excavatum, Radioulnar synostosis, Multicystic kidney dysplasia	ORPHA:3270
Trisomy 17P	Hypoplasia of penis, Urethral valve, Prominent metopic ridge, Short neck, Hydrocephalus, Urethral...	ORPHA:261290
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Platyspondyly, Hydrocephalus, Thin ribs	ORPHA:163966
Achondrogenesis Type 1B	Short neck, Abnormal enchondral ossification, Short thorax, Abnormal rib morphology, Narrow chest...	ORPHA:93298
Mosaic Trisomy 8	Decreased testicular size, Camptodactyly of finger, Short neck, Cryptorchidism, Limitation of joi...	ORPHA:96061
Fibrochondrogenesis 1	Hypoplastic scapulae, Long clavicles, Anterior rib cupping, Short neck, Widely patent sagittal su...	OMIM:228520
Fibrochondrogenesis	Hypoplastic scapulae, Camptodactyly of finger, Short neck, Wide anterior fontanel, Abnormal rib m...	ORPHA:2021
Cantú Syndrome	Ovoid vertebral bodies, Short neck, Accelerated skeletal maturation, Delayed skeletal maturation,...	ORPHA:1517
Faciodigitogenital Syndrome, Autosomal Recessive	Vertebral fusion, Down-sloping shoulders, Pectus excavatum, Cryptorchidism, Hyperextensible hand ...	OMIM:227330
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome	Vertebral segmentation defect, Abnormal rib morphology, Spina bifida	ORPHA:1120
Burn-Mckeown Syndrome	Cleft palate, Bifid uvula, Renal hypoplasia, Unilateral renal agenesis	OMIM:608572
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Wormian bones, Hypospadias, Tracheomalacia, Horseshoe kidney, Glossoptosis, Macroglossia, High pa...	ORPHA:444077
Poland Syndrome	Short neck, Hemivertebrae, Pectus carinatum, Reduced bone mineral density, Vertebral segmentation...	ORPHA:2911
Genitopalatocardiac Syndrome	Multicystic kidney dysplasia, Hypospadias, Kyphosis, Cryptorchidism, Hydrocephalus, Cleft palate,...	ORPHA:2075
Spondyloepimetaphyseal Dysplasia, Aggrecan Type	Barrel-shaped chest, Joint laxity, Lumbar hyperlordosis, Short neck, Platyspondyly	OMIM:612813
Braddock-Carey Syndrome 1	Multicystic kidney dysplasia, Hyperlordosis, Cleft palate, Anteriorly placed anus, Camptodactyly	OMIM:619980
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	Short neck, Delayed epiphyseal ossification, Delayed skeletal maturation, Flat acetabular roof, B...	OMIM:613320
Mucopolysaccharidosis, Type Iiib	Thickened ribs, Joint stiffness, Heparan sulfate excretion in urine, Ovoid thoracolumbar vertebra...	OMIM:252920
Dysosteosclerosis	Osteopenia, Sclerosis of hand bone, Sclerotic scapulae, Delayed closure of the anterior fontanell...	OMIM:224300
Oligomeganephronia	Branchial cyst, Renal insufficiency, Proteinuria, Unilateral renal agenesis, Abnormal renal corte...	ORPHA:2260
1P36 Deletion Syndrome	11 pairs of ribs, Hypoplasia of penis, Hypospadias, Abnormality of the kidney, Camptodactyly of f...	ORPHA:1606
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome	Hypoplasia of penis, Hypogonadotropic hypogonadism, Hyperlordosis, Delayed skeletal maturation, L...	ORPHA:3068
Acrorenal-Mandibular Syndrome	Hypoplastic scapulae, Renal agenesis, Kyphoscoliosis, Missing ribs, Hemivertebrae, Abnormality of...	OMIM:200980
Chromosome 16P13.3 Duplication Syndrome	Sacral dimple, Short neck, Pectus excavatum, Cryptorchidism, Hip dislocation, Cervical C5/C6 vert...	OMIM:613458
Acro-Renal-Ocular Syndrome	Vertebral fusion, Renal malrotation, Aganglionic megacolon, Renal hypoplasia/aplasia, Horseshoe k...	ORPHA:959
Beaulieu-Boycott-Innes Syndrome	Recurrent urinary tract infections, Premature ovarian insufficiency, Endometriosis, Unilateral re...	OMIM:613680
Lowry-Wood Syndrome	Joint stiffness, Elbow dislocation, Delayed skeletal maturation, Platyspondyly, Patellar dislocat...	ORPHA:1824
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type	Disc-like vertebral bodies, Ovoid vertebral bodies, Short neck, Flat acetabular roof, Thin ribs, ...	OMIM:151210
Simpson-Golabi-Behmel Syndrome	Ureteral duplication, Hypoplasia of penis, Congenital hip dislocation, Short neck, Accelerated sk...	ORPHA:373
Congenital Anomalies Of Kidney And Urinary Tract 2	Back pain, Renal dysplasia, Renal insufficiency, Hydroureter, Renal hypoplasia, Congenital megaur...	OMIM:143400
Grant Syndrome	Joint dislocation, Abnormal rib morphology, Joint hyperflexibility, Narrow chest, Wormian bones, ...	ORPHA:2097
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Sclerotic vertebral body, Kyphosis, Increased skull ossification, Craniofacial osteosclerosis, Hy...	OMIM:618476
Thanatophoric Dysplasia Type 1	Abnormality of the kidney, Joint stiffness, Abnormal sacroiliac joint morphology, Wide anterior f...	ORPHA:1860
Congenital Disorder Of Glycosylation, Type Iil	Unilateral renal agenesis, Hydrocephalus, Esophageal varix, Inflammation of the large intestine, ...	OMIM:614576
Cerebrocostomandibular Syndrome	Congenital hip dislocation, Ectopic kidney, Renal cyst, Anteriorly placed anus, Glossoptosis, Hig...	OMIM:117650
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Thoracic hypoplasia, Hamartoma of tongue, Intestinal malrotation, Lateral clavicle hook, Enlarged...	OMIM:613091
Geroderma Osteodysplasticum	Osteopenia, Hyperextensibility of the finger joints, Recurrent fractures, Kyphoscoliosis, Vertebr...	OMIM:231070
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities	Hepatic cysts, Kyphoscoliosis, Pectus excavatum, Platyspondyly, Delayed ossification of carpal bo...	OMIM:617425
Mucopolysaccharidosis, Type Iiic	Thickened ribs, Kyphoscoliosis, Joint stiffness, Heparan sulfate excretion in urine, Ovoid thorac...	OMIM:252930
Ehlers-Danlos Syndrome, Classic-Like	Unilateral renal agenesis, Hiatus hernia, Joint subluxation, Vesicoureteral reflux, Joint hypermo...	OMIM:606408
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome	Hypospadias, Unilateral renal agenesis, Flexion contracture, Abnormal sternum morphology, Scolios...	ORPHA:487796
Otospondylomegaepiphyseal Dysplasia	Abnormally ossified vertebrae, Lumbar hyperlordosis, Enlarged joints, Short neck, Osteoarthritis,...	ORPHA:1427
Mucopolysaccharidosis Type 6	Ovoid vertebral bodies, Short neck, Joint stiffness, Kyphosis, Genu valgum, Macroglossia, Mucopol...	ORPHA:583
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive	Lumbar hyperlordosis, Enlarged joints, Flexion contracture, Premature osteoarthritis, Cleft palat...	OMIM:215150
Dysosteosclerosis	Increased bone mineral density, Recurrent fractures, Hypoplastic vertebral bodies, Irregular vert...	ORPHA:1782
Osteogenesis Imperfecta, Type Viii	Barrel-shaped chest, Osteopenia, Joint laxity, Recurrent fractures, Multiple prenatal fractures, ...	OMIM:610915
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome	Hypoplasia of penis, Short neck, Cryptorchidism, Kyphosis, Abnormal rib morphology, Pectus carinatum	ORPHA:3082
Elsahy-Waters Syndrome	Anal stenosis, Hypospadias, Bilateral cryptorchidism, Pectus excavatum, Anteriorly placed anus, H...	OMIM:211380
Desbuquois Dysplasia 1	Joint dislocation, Joint laxity, Phalangeal dislocation, Hyperlordosis, Short neck, Kyphosis, Ost...	OMIM:251450
Distal 16P11.2 Microdeletion Syndrome	Renal agenesis, Abnormality of the kidney, Proteinuria, Aganglionic megacolon, Kyphosis, Chronic ...	ORPHA:261222
Spondylometaphyseal Dysplasia, Schmidt Type	Abnormality of the knee, Cleft soft palate, Kyphoscoliosis, Genu valgum, Platyspondyly, Abnormali...	ORPHA:93316
Desbuquois Dysplasia 2	Joint laxity, Lumbar hyperlordosis, Short neck, Pectus excavatum, Radial head subluxation, Hip di...	OMIM:615777
Acro-Renal-Mandibular Syndrome	Abnormal clavicle morphology, Hypoplastic scapulae, Aplasia/Hypoplasia of the tongue, Short neck,...	ORPHA:958
8Q24.3 Microdeletion Syndrome	Branchial cyst, Joint laxity, Thoracic scoliosis, Congenital hip dislocation, Abnormality of the ...	ORPHA:508488
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly	Lateral clavicle hook, Bell-shaped thorax, Thoracic dysplasia, Narrow chest, Horizontal ribs	OMIM:615633
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome	Aqueductal stenosis, Abnormally ossified vertebrae, Abnormal rib morphology, Intestinal malrotation	ORPHA:3035
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Intestinal malrotation, Hamartoma of tongue, Lateral clavicle hook, Microglossia, Cleft palate, P...	OMIM:263520
Diamond-Blackfan Anemia 11	Bilateral cleft palate, Radioulnar synostosis, Unilateral renal agenesis	OMIM:614900
Vacterl With Hydrocephalus	Absence of the sacrum, Renal agenesis, Spina bifida, Renal hypoplasia/aplasia, Aqueductal stenosi...	ORPHA:3412
Czech Dysplasia	Flexion contracture, Limitation of joint mobility, Irregular vertebral endplates, Platyspondyly, ...	OMIM:609162
Achondrogenesis Type 1A	Multiple rib fractures, Recurrent fractures, Short neck, Abnormal enchondral ossification, Short ...	ORPHA:93299
Duane Retraction Syndrome	Ectopic kidney, Short neck, Spina bifida occulta, Abnormal form of the vertebral bodies, Cleft pa...	ORPHA:233
Holt-Oram Syndrome	Abnormal clavicle morphology, Down-sloping shoulders, Joint stiffness, Pectus excavatum, Kyphosis...	ORPHA:392
Fanconi Anemia, Complementation Group B	Renal agenesis, Hypergonadotropic hypogonadism, Short neck, Esophageal atresia, Hydrocephalus, Tr...	OMIM:300514
Cockayne Syndrome Type 3	Renal insufficiency, Neurogenic bladder, Hydroureter, Unilateral renal agenesis, Kyphosis, Flexio...	ORPHA:90324
Bent Bone Dysplasia Syndrome 2	Osteopenia, Short neck, Thin ribs, Coronal cleft vertebrae, Platyspondyly, Decreased calvarial os...	OMIM:620076
Gm1-Gangliosidosis, Type Ii	Joint stiffness, Protruding tongue, Hypoplastic vertebral bodies, Platyspondyly, Scoliosis, Thora...	OMIM:230600
Ifap Syndrome 1, With Or Without Bresheck Syndrome	Multicystic kidney dysplasia, Hypospadias, Renal agenesis, Unilateral renal agenesis, Aganglionic...	OMIM:308205
Occipital Horn Syndrome	Joint laxity, Persistent open anterior fontanelle, Ureteral obstruction, Broad clavicles, Kyphosi...	OMIM:304150
Autosomal Dominant Cutis Laxa	Osteopenia, Joint laxity, Genu recurvatum, Unilateral renal agenesis, Hip dislocation, Pyelonephr...	ORPHA:90348
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1	Absence of the sacrum, Submucous cleft hard palate, Renal hypoplasia, Spinal dysraphism, Vesicour...	OMIM:617660
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2	Osteopenia, Joint laxity, Kyphoscoliosis, Pectus excavatum, Hip dislocation, Advanced ossificatio...	OMIM:615349
Oeis Complex	Congenital hip dislocation, Epispadias, Hemivertebrae, Anteriorly placed anus, Duplicated colon, ...	OMIM:258040
Acromesomelic Dysplasia 4	Thoracic scoliosis, Lumbar hyperlordosis, Accelerated skeletal maturation, Thoracic platyspondyly...	OMIM:619636
Hall-Riggs Syndrome	Delayed skeletal maturation, Platyspondyly, Scoliosis, Joint stiffness	ORPHA:2107
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Lumbar hyperlordosis, Kyphoscoliosis, Unilateral renal agenesis, Bilateral renal dysplasia, Sagit...	ORPHA:500150
Renal Tubular Dysgenesis	Joint hyperflexibility, Proximal tubulopathy, Multiple renal cysts, Nephropathy, Renotubular dysg...	ORPHA:3033
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion	Sacral dimple, Recurrent urinary tract infections, Hypospadias, Cleft soft palate, Unilateral ren...	ORPHA:268261
Spondyloperipheral Dysplasia	Barrel-shaped chest, Ovoid vertebral bodies, Short neck, Kyphosis, Flat acetabular roof, Pectus c...	OMIM:271700
Pseudotrisomy 13 Syndrome	Encephalocele, 11 pairs of ribs, Renal agenesis, Cryptorchidism, Hydrocephalus, Hemivertebrae, Re...	OMIM:264480
Pallister-Hall Syndrome	Decreased testicular size, Hypospadias, Unilateral renal agenesis, Ectopic kidney, Cryptorchidism...	ORPHA:672
Gillessen-Kaesbach-Nishimura Syndrome	Short neck, Wide anterior fontanel, Flexion contracture, Polycystic kidney dysplasia, Decreased s...	OMIM:263210
Schimke Immunoosseous Dysplasia	Osteopenia, Renal insufficiency, Lumbar hyperlordosis, Proteinuria, Ovoid vertebral bodies, Short...	OMIM:242900
Oculoskeletodental Syndrome	Renal agenesis, Cryptorchidism, Delayed skeletal maturation, Elbow flexion contracture, Hypercalc...	OMIM:618440
Infantile Liver Failure Syndrome 3	Hypoplastic vertebral bodies, Beaking of vertebral bodies, Abnormal acetabulum morphology, Platys...	OMIM:618641
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria	Enlargement of the ankles, Multiple joint contractures, Unilateral renal agenesis, Short neck, Ab...	ORPHA:99646
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome	Renal agenesis, Joint stiffness, Renal hypoplasia/aplasia, High, narrow palate, Short neck, Cleft...	ORPHA:2516
Bardet-Biedl Syndrome	Hypoplasia of penis, Multicystic kidney dysplasia, Short neck, Cryptorchidism, Nephrotic syndrome...	ORPHA:110
Intellectual Developmental Disorder, Autosomal Recessive 71	Cryptorchidism, Micropenis, Unilateral renal agenesis	OMIM:618504
Alveolar Echinococcosis	Low back pain, Pancreatic cysts, Renal cyst, Abnormal sternum morphology, Abnormal bladder morpho...	ORPHA:284
Rhyns Syndrome	Osteopenia, Multicystic kidney dysplasia, Abnormal acetabulum morphology, Delayed skeletal matura...	ORPHA:140976
Peroxisome Biogenesis Disorder 6A (Zellweger)	Epiphyseal stippling, Renal cyst	OMIM:614870
Spondylometaphyseal Dysplasia, Algerian Type	Lumbar hyperlordosis, Anterior rib cupping, Kyphoscoliosis, Genu valgum, Platyspondyly, Carpal bo...	OMIM:184253
Greenberg Dysplasia	Beaded ribs, Multiple prenatal fractures, Patchy variation in bone mineral density, Hypoplastic v...	OMIM:215140
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans	Lumbar hyperlordosis, Urinary incontinence, Kyphosis, Wide anterior fontanel, Hydrocephalus, Irre...	OMIM:616482
Generalized Arterial Calcification Of Infancy	Abnormality of the knee, Hyperphosphaturia, Calcification of the auricular cartilage, Osteomalaci...	ORPHA:51608
Gm1-Gangliosidosis, Type I	Thickened ribs, Short neck, Joint stiffness, Kyphosis, Hypoplastic vertebral bodies, Abnormality ...	OMIM:230500
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome	Communicating hydrocephalus, Craniosynostosis, Unilateral renal agenesis	ORPHA:1064
Smith-Lemli-Opitz Syndrome	Renal cyst, Holoprosencephaly, Micropenis, Bifid uvula, Penoscrotal hypospadias, Hypospadias, Cry...	OMIM:270400
Pelvis-Shoulder Dysplasia	Back pain, Lumbar hyperlordosis, Hypoplastic scapulae, Congenital hip dislocation, Short clavicle...	OMIM:169550
Bardet-Biedl Syndrome 4	Cryptorchidism, Hypogonadism, Abnormality of the kidney, Renal cyst	OMIM:615982
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech	Short neck, Pectus excavatum, Anterior scalloping of vertebral bodies, Delayed epiphyseal ossific...	OMIM:611717
Craniometadiaphyseal Dysplasia, Wormian Bone Type	Osteopenia, Increased bone mineral density, Wide anterior fontanel, Vertebral arch anomaly, High ...	ORPHA:85184
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins	Hydroureter, Hypospadias, Intestinal malrotation, Esophageal atresia, Dilatation of the renal pel...	OMIM:265380
Osteopathia Striata With Cranial Sclerosis	Craniofacial osteosclerosis, High palate, Broad ribs, Spina bifida occulta, Bifid uvula, Multicys...	OMIM:300373
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly	Joint dislocation, Thoracolumbar scoliosis, Ovoid vertebral bodies, Hyperlordosis, Thoracic platy...	OMIM:618019
Kallmann Syndrome With Spastic Paraplegia	Hypogonadotropic hypogonadism, Unilateral renal agenesis, Cryptorchidism, High palate, Micropenis...	OMIM:308750
Renal Cysts And Diabetes Syndrome	Multiple glomerular cysts, Hypospadias, Abnormality of the kidney, Unilateral renal agenesis, Pro...	OMIM:137920
Meckel Syndrome 13	Occipital encephalocele, Flexion contracture, Polycystic kidney dysplasia	OMIM:617562
Nager Syndrome	Cleft palate, Unilateral renal agenesis, Joint stiffness	ORPHA:245
Achondroplasia	Lumbar hyperlordosis, Limited hip extension, Generalized joint laxity, Hydrocephalus, Lumbar kyph...	OMIM:100800
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia	Hypogonadotropic hypogonadism, Unilateral renal agenesis, Cryptorchidism, Azoospermia, High palat...	OMIM:308700
Renal Dysplasia, Cystic, Susceptibility To	Renal insufficiency, Cystic renal dysplasia, Vesicoureteral reflux, Hyperechogenic kidneys, Renal...	OMIM:601331
Vater/Vacterl Association	Renal dysplasia, Occipital encephalocele, Hypospadias, Renal agenesis, Spina bifida, Ectopic kidn...	OMIM:192350
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type	Osteopenia, Thoracolumbar scoliosis, Craniosynostosis, Short neck, Delayed skeletal maturation, P...	OMIM:616723
Short-Rib Thoracic Dysplasia 14 With Polydactyly	Aplastic clavicle, Short neck, Hamartoma of tongue, Hydrocephalus, Anencephaly, Cleft palate, Sho...	OMIM:616546
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism	Osteopenia, Thoracolumbar scoliosis, Sagittal craniosynostosis, Hiatus hernia, Pancreatic cysts, ...	OMIM:610199
Cleidocranial Dysplasia	Hypoplastic scapulae, Down-sloping shoulders, Recurrent fractures, High, narrow palate, Abnormal ...	ORPHA:1452
Brachytelephalangic Chondrodysplasia Punctata	Stippling of the epiphyses of the distal phalanges of the hand, Calcaneal epiphyseal stippling, C...	ORPHA:79345
Kleefstra Syndrome	Hypoplasia of penis, Renal insufficiency, Hypospadias, Tracheomalacia, Cryptorchidism, Pyloric st...	ORPHA:261494
Osteogenesis Imperfecta, Type Xvii	Joint laxity, Recurrent fractures, Kyphoscoliosis, Osteoporosis, Hip dislocation, Reduced bone mi...	OMIM:616507
Digeorge Syndrome	Renal dysplasia, Pilonidal sinus, Renal insufficiency, Unilateral renal agenesis, High, narrow pa...	OMIM:188400
Short-Rib Thoracic Dysplasia 12	Hypoplastic scapulae, Intestinal malrotation, Hamartoma of tongue, Short neck, Hydrocephalus, Sho...	OMIM:269860
Congenital Anomalies Of Kidney And Urinary Tract 1	Unilateral renal agenesis, Stage 5 chronic kidney disease, Renal hypoplasia, Vesicoureteral reflu...	OMIM:610805
2P15P16.1 Microdeletion Syndrome	Multicystic kidney dysplasia, Prominent metopic ridge, Camptodactyly of finger, Pectus excavatum,...	ORPHA:261349
Pentalogy Of Cantrell	Encephalocele, Hypospadias, Renal agenesis, Hydrocephalus, Anencephaly, Cleft palate, Abnormal st...	ORPHA:1335
Epidermal Nevus Syndrome	Osteopenia, Spinal canal stenosis, Thoracolumbar scoliosis, Polycystic kidney dysplasia	ORPHA:35125
Saul-Wilson Syndrome	Pectus excavatum, Wide anterior fontanel, Hypoplasia of the odontoid process, Madelung deformity,...	OMIM:618150
Achondrogenesis, Type Ia	Barrel-shaped chest, Hypoplastic sacrum, Hypoplastic scapulae, Beaded ribs, Short neck, Broad cla...	OMIM:200600
Craniodiaphyseal Dysplasia	Abnormal rib morphology	ORPHA:1513
Vertebral Hypersegmentation And Orofacial Anomalies	Scapular winging, Pectus excavatum, Submucous cleft hard palate, Supernumerary ribs, Six lumbar v...	OMIM:619122
Chromosome 1P36 Deletion Syndrome, Distal	11 pairs of ribs, Hypospadias, Camptodactyly of finger, Delayed closure of the anterior fontanell...	OMIM:607872
Myhre Syndrome	Vertebral fusion, Short neck, Joint stiffness, Cryptorchidism, Limitation of joint mobility, Clef...	OMIM:139210
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Osteopenia, Short neck, Accelerated skeletal maturation, Multiple joint dislocation, Pectus carin...	OMIM:245600
Spondyloenchondrodysplasia With Immune Dysregulation	Barrel-shaped chest, Lumbar hyperlordosis, Kyphoscoliosis, Increased intervertebral space, Irregu...	OMIM:607944
Congenital Disorder Of Glycosylation, Type Ia	Osteopenia, Villous atrophy, Premature ovarian insufficiency, Proteinuria, Hypergonadotropic hypo...	OMIM:212065
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly	Hypoplastic scapulae, Hypospadias, Short uvula, Renal hypoplasia, Renal cyst, Flat acetabular roo...	OMIM:614091
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy	Occipital encephalocele, Small cervical vertebral bodies, Renal insufficiency, Hypospadias, Long ...	ORPHA:397715
Gm1 Gangliosidosis Type 1	Spatulate ribs, Pectus carinatum, Hypoplastic vertebral bodies, Macroglossia, Platyspondyly, Urin...	ORPHA:79255
Cartilage-Hair Hypoplasia	Short neck, Accelerated skeletal maturation, Abnormal form of the vertebral bodies, Pectus carina...	ORPHA:175
Cystic Echinococcosis	Abnormality of the testis size, Renal cyst, Membranous nephropathy, Ovarian cyst, Abnormality of ...	ORPHA:400
Schinzel-Giedion Syndrome	Abnormal clavicle morphology, Short neck, Renal cyst, Anteriorly placed anus, High palate, Broad ...	ORPHA:798
Mosaic Trisomy 1	Thoracic scoliosis, Camptodactyly of finger, Elbow flexion contracture, Renal cortical cysts, Ren...	ORPHA:1692
Renal Hypodysplasia/Aplasia 3	Renal dysplasia, Multicystic kidney dysplasia, Renal agenesis, Horseshoe kidney, Vesicoureteral r...	OMIM:617805
Loeys-Dietz Syndrome 6	Knee osteoarthritis, High palate, Scoliosis, Hip osteoarthritis, Intervertebral disc degeneration	OMIM:619656
Schwartz-Jampel Syndrome	Short neck, Pectus carinatum, High palate, Wrist flexion contracture, Abnormally ossified vertebr...	ORPHA:800
Cockayne Syndrome	Neurogenic bladder, Renal insufficiency, Proteinuria, Urinary incontinence, Unilateral renal agen...	ORPHA:191
Mosaic Variegated Aneuploidy Syndrome 1	Multicystic kidney dysplasia, Hypospadias, Nephroblastoma, Short neck, Cryptorchidism, Hydrocepha...	OMIM:257300
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Osteopenia, Multiple joint contractures, Multiple joint dislocation, Pectus carinatum, High palat...	ORPHA:536467
Three M Syndrome 2	Scapular winging, Lumbar hyperlordosis, Hyperlordosis, Short neck, Delayed skeletal maturation, S...	OMIM:612921
Infundibulopelvic Dysgenesis	Multicystic kidney dysplasia, Microscopic hematuria	OMIM:600989
Opsismodysplasia	Anterior rib cupping, Short neck, Hypoplasia of the odontoid process, Flat acetabular roof, Hypop...	OMIM:258480
Schimke Immuno-Osseous Dysplasia	Lumbar hyperlordosis, Proteinuria, Ovoid vertebral bodies, Short neck, Minimal change glomerulone...	ORPHA:1830
Ossification Anomalies-Psychomotor Developmental Delay Syndrome	Abnormal thorax morphology, Abnormal form of the vertebral bodies, Thin ribs, Generalized bone de...	ORPHA:73230
Mucopolysaccharidosis, Type Vi	Lumbar hyperlordosis, Ovoid vertebral bodies, Kyphoscoliosis, Joint stiffness, Anterior wedging o...	OMIM:253200
Multiple Acyl-Coa Dehydrogenase Deficiency	Scapular winging, Hyperlordosis, Wide anterior fontanel, Glutaric aciduria, Lacticaciduria, 3-Met...	ORPHA:26791
Iniencephaly	Encephalocele, Renal agenesis, Spina bifida, Hyperlordosis, Myelomeningocele, Absent vertebra, An...	ORPHA:63259
Spondyloepimetaphyseal Dysplasia, Sponastrime Type	Osteopenia, Lumbar hyperlordosis, Kyphoscoliosis, Laryngotracheomalacia, Delayed skeletal maturat...	OMIM:271510
Hajdu-Cheney Syndrome	Osteopenia, Short neck, Bone pain, Pectus carinatum, Decreased skull ossification, Hypospadias, O...	ORPHA:955
Hurler Syndrome	Abnormal clavicle morphology, Camptodactyly of finger, Short neck, Hydrocephalus, Limitation of j...	ORPHA:93473
Radial-Renal Syndrome	Unilateral renal agenesis, Ectopic kidney	OMIM:179280
Joubert Syndrome 16	Encephalocele, Renal cyst, Nephronophthisis	OMIM:614465
Müllerian Aplasia And Hyperandrogenism	Renal agenesis, Short neck, Primary amenorrhea, Cleft palate, Shield chest, Cubitus valgus	ORPHA:247768
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay	Renal insufficiency, Renal agenesis, Unilateral renal agenesis, Ectopic kidney, Absence of renal ...	OMIM:617641
Achondrogenesis, Type Ii	Barrel-shaped chest, Absent vertebral body mineralization, Cleft palate, Short ribs, Horizontal ribs	OMIM:200610
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome	Osteopenia, Abnormality of the knee, Thoracolumbar scoliosis, Kyphoscoliosis, Hyperlordosis, Thor...	ORPHA:457395
Kyphomelic Dysplasia	Anterior rib cupping, Lateral clavicle hook, Limitation of joint mobility, Undulate ribs, Flat ac...	OMIM:211350
15q26 overgrowth syndrome	Renal agenesis, Abnormality of the kidney, Craniosynostosis, Short neck, Camptodactyly of finger,...	DECIPHER:81
Cornelia De Lange Syndrome 1	Ectopic kidney, Short neck, High, narrow palate, Renal cyst, High palate, Vesicoureteral reflux, ...	OMIM:122470
Jeune Syndrome	Abnormal clavicle morphology, Short thorax, Abnormal rib morphology, Abnormal sternum morphology,...	ORPHA:474
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Osteopenia, Craniosynostosis, Pectus excavatum, High, narrow palate, Delayed skeletal maturation,...	ORPHA:369837
2Q37 Microdeletion Syndrome	Multicystic kidney dysplasia, Short neck, Pyloric stenosis, Joint hyperflexibility, Tracheomalaci...	ORPHA:1001
Meckel Syndrome, Type 9	Occipital encephalocele, Multicystic kidney dysplasia	OMIM:614209
Khan-Khan-Katsanis Syndrome	Ureteral duplication, Sacral dimple, Delayed closure of the anterior fontanelle, Renal hypoplasia...	OMIM:618460
Focal Dermal Hypoplasia	Multicystic kidney dysplasia, Camptodactyly of finger, Spina bifida, Renal hypoplasia/aplasia, Ho...	ORPHA:2092
Peroxisome Biogenesis Disorder 3A (Zellweger)	Wide anterior fontanel, Polycystic kidney dysplasia, Epiphyseal stippling	OMIM:614859
Spondylometaphyseal Dysplasia, Sedaghatian Type	Abnormal scapula morphology, Accelerated skeletal maturation, Delayed skeletal maturation, Abnorm...	ORPHA:93317
Blomstrand Lethal Chondrodysplasia	Increased bone mineral density, Aplastic clavicle, Accelerated skeletal maturation, Protruding to...	ORPHA:50945
Joubert Syndrome With Hepatic Defect	Occipital encephalocele, Renal insufficiency, Multicystic kidney dysplasia, Hydrocephalus, Scolio...	ORPHA:1454
Jacobsen Syndrome	Multicystic kidney dysplasia, Intestinal malrotation, Spina bifida, Missing ribs, Short neck, Cry...	ORPHA:2308
Short Stature, Microcephaly, And Endocrine Dysfunction	Unilateral renal agenesis, Ectopic kidney, Cryptorchidism, Renal hypoplasia, Micropenis	OMIM:616541
Osteoporosis-Pseudoglioma Syndrome	Barrel-shaped chest, Osteopenia, Recurrent fractures, Kyphoscoliosis, Kyphosis, Osteoporosis, Inc...	OMIM:259770
Osteogenesis Imperfecta	Osteopenia, Cervical kyphosis, Osteoarthritis, Flexion contracture, Bone pain, Abnormal form of t...	ORPHA:666
Developmental Delay With Or Without Dysmorphic Facies And Autism	Cryptorchidism, Renal hypoplasia, Renal cyst, Cleft palate, Microphallus, Scoliosis, Vesicoureter...	OMIM:618454
Osteogenesis Imperfecta, Type Iv	Recurrent fractures, Biconcave flattened vertebrae, Kyphosis, Increased susceptibility to fractur...	OMIM:166220
Heterotaxy, Visceral, 1, X-Linked	Absence of the sacrum, Congenital hip dislocation, Renal agenesis, Block vertebrae, Posteriorly p...	OMIM:306955
Lenz-Majewski Hyperostotic Dwarfism	Joint laxity, Hyperextensibility of the finger joints, Hypospadias, Broad clavicles, Cryptorchidi...	OMIM:151050
Craniometadiaphyseal Dysplasia	Osteopenia, Cubitus valgus, Wide anterior fontanel, Genu valgum, Sclerosis of skull base, High pa...	OMIM:269300
Familial Osteodysplasia, Anderson Type	Recurrent fractures, Aplastic clavicle, Missing ribs, Elbow dislocation, Kyphosis, Abnormal rib m...	ORPHA:2769
Thomas Syndrome	Multicystic kidney dysplasia, Cleft palate, Renal hypoplasia/aplasia	ORPHA:3316
Peroxisome Biogenesis Disorder 11A (Zellweger)	Wide anterior fontanel, Multiple renal cysts, Renal cyst	OMIM:614883
Shprintzen-Goldberg Craniosynostosis Syndrome	Osteopenia, Genu recurvatum, Lateral clavicle hook, Pectus carinatum, High palate, Dislocated rad...	OMIM:182212
Bone Fragility With Contractures, Arterial Rupture, And Deafness	Osteopenia, Contracture of the proximal interphalangeal joint of the 2nd finger, Elbow flexion co...	OMIM:612394
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type	Short neck, Pectus carinatum, Knee flexion contracture, Abnormal calcification of the carpal bone...	OMIM:271665
Cat-Eye Syndrome	Renal hypoplasia/aplasia, Abnormal rib morphology, Abnormal localization of kidney, Hydronephrosi...	ORPHA:195
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures	Short neck, Delayed proximal femoral epiphyseal ossification, Flexion contracture, Irregular vert...	OMIM:271640
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Encephalocele, Hamartoma of tongue, Unicoronal synostosis, Cryptorchidism, Renal hypoplasia, Rena...	OMIM:616300
Odontochondrodysplasia 2 With Hearing Loss And Diabetes	Osteopenia, Platyspondyly, Large knee, Scoliosis, Moderate albuminuria, Hydronephrosis	OMIM:619269
Osteogenesis Imperfecta, Type Vii	Osteopenia, Multiple rib fractures, Wide cranial sutures, Recurrent fractures, Protrusio acetabul...	OMIM:610682
Spondyloenchondrodysplasia	Proteinuria, Kyphosis, Chronic kidney disease, Pectus carinatum, Hematuria, Arthritis, Platyspond...	ORPHA:1855
Fryns Syndrome	Multicystic kidney dysplasia, Hypospadias, Aganglionic megacolon, Intestinal malrotation, Short n...	ORPHA:2059
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Hyperextensibility of the finger joints, Internally rotated shoulders, Multiple joint dislocation...	OMIM:619503
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi	Nephroblastoma, Renal hypoplasia, Scoliosis, Spinal dysraphism	OMIM:612918
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly	Osteopenia, Ureteral duplication, Short neck, Renal cyst, High palate, Narrow chest, Nephronophth...	OMIM:266920
Hanac Syndrome	Hematuria, Renal insufficiency, Multiple renal cysts	ORPHA:73229
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5	Chronic kidney disease, Gout, Renal cyst, Focal segmental glomerulosclerosis, Nephropathy	OMIM:617056
Renal Agenesis	Renal insufficiency, Renal agenesis, Proteinuria, Unilateral renal agenesis, Ureteral agenesis, A...	ORPHA:411709
Monosomy 9Q22.3	Short neck, Pectus excavatum, Kyphosis, Accelerated skeletal maturation, Hydrocephalus, Abnormal ...	ORPHA:77301
Trisomy 1Q	Multicystic kidney dysplasia, Camptodactyly of finger, Cryptorchidism, Hydrocephalus, Short thora...	ORPHA:261344
Indomethacin Embryofetopathy	Nephropathy, Renal insufficiency, Multicystic kidney dysplasia, Abnormal renal tubule morphology	ORPHA:1909
Aneurysm-Osteoarthritis Syndrome	Joint laxity, Osteoarthritis of the small joints of the hand, Protrusio acetabuli, Camptodactyly ...	ORPHA:284984
Meier-Gorlin Syndrome 1	Genu recurvatum, Lateral clavicle hook, Flat glenoid fossa, Hemivertebrae, Flexion contracture, P...	OMIM:224690
Fryns Syndrome	Ureteral duplication, Meckel diverticulum, Anal atresia, Hypospadias, Renal agenesis, Aganglionic...	OMIM:229850
Occipital Horn Syndrome	Osteopenia, High, narrow palate, Pectus carinatum, Narrow chest, Abnormality of the wrist, Osteom...	ORPHA:198
Polycystic Kidney Disease 5	Stage 5 chronic kidney disease, Polycystic kidney dysplasia, Reduced renal corticomedullary diffe...	OMIM:617610
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome	Joint hyperflexibility, Decreased calvarial ossification, Abnormal rib morphology, Recurrent frac...	ORPHA:2772
Myhre Syndrome	Abnormal penis morphology, Hypospadias, Joint stiffness, Epispadias, Cryptorchidism, Submucous cl...	ORPHA:2588
Neurofaciodigitorenal Syndrome	Pectus excavatum, Cryptorchidism, Abnormality of the elbow, Unilateral renal agenesis	ORPHA:2673
X-Linked Hypophosphatemia	Craniosynostosis, Beaded ribs, Enlargement of the costochondral junction, Sacroiliac joint synovi...	ORPHA:89936
Mucolipidosis Iii Alpha/Beta	Craniosynostosis, Irregular carpal bones, Short ribs, Scoliosis, Broad ribs, Shallow acetabular f...	OMIM:252600
Alpha-Mannosidosis, Infantile Form	Osteopenia, Joint laxity, Recurrent urinary tract infections, Thickened ribs, Communicating hydro...	ORPHA:309282
Townes-Brocks Syndrome 2	Hypospadias, Rectovaginal fistula, Scoliosis, Vesicoureteral reflux, Crossed fused renal ectopia,...	OMIM:617466
Craniofacial Microsomia 1	Occipital encephalocele, Multicystic kidney dysplasia, Block vertebrae, Renal agenesis, Ectopic k...	OMIM:164210
Nphp3-Related Meckel-Like Syndrome	Intestinal malrotation, Multicystic kidney dysplasia, Renal dysplasia	ORPHA:3032
C Syndrome	Fused sternal ossification centers, Cryptorchidism, Delayed skeletal maturation, Hip dislocation,...	OMIM:211750
Bladder Exstrophy And Epispadias Complex	Hydroureter, Unilateral renal agenesis, Epispadias, Horseshoe kidney, Anteriorly placed anus, Bla...	OMIM:600057
Renpenning Syndrome	Hypospadias, Joint stiffness, Pectus excavatum, High, narrow palate, Abnormal rib morphology, Cle...	ORPHA:3242
Camptodactyly Syndrome, Guadalajara Type 3	Osteopenia, Short neck, Delayed skeletal maturation, Abnormal rib morphology, Micropenis, Spina b...	ORPHA:488434
Aniridia, Partial, With Unilateral Renal Agenesis And Psychomotor Retardation	Unilateral renal agenesis	OMIM:206750
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Short neck, Delayed epiphyseal ossification, Flexion contracture, Renal cyst, Knee flexion contra...	OMIM:210710
10Q22.3Q23.3 Microduplication Syndrome	Abnormal clavicle morphology, Abnormal rib morphology	ORPHA:276422
Meckel Syndrome, Type 11	Occipital encephalocele, Polycystic kidney dysplasia	OMIM:615397
Oculocerebrorenal Syndrome Of Lowe	Oligosacchariduria, Nephrocalcinosis, Aminoaciduria, Glomerulopathy, Osteomalacia, Cryptorchidism...	ORPHA:534
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Hypospadias, Renal agenesis, Kyphoscoliosis, Protruding tongue, Kyphosis, Cryptorchidism, Hemiver...	OMIM:301040
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness	Joint laxity, Lumbar hyperlordosis, Cupped ribs, Flat glenoid fossa, Irregular chondrocostal junc...	OMIM:250420
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Cupped ribs, Platyspondyly, Ovoid vertebral bodies, Scoliosis	ORPHA:85167
Spondyloocular Syndrome	Osteopenia, Unilateral cryptorchidism, Duodenal ulcer, Pectus carinatum, Shield chest, Platyspond...	OMIM:605822
Aspergillosis	Osteomyelitis, Abnormality of the kidney, Abnormal rib morphology, Abnormality of the vertebral c...	ORPHA:1163
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1	Osteopenia, Joint dislocation, Joint laxity, Congenital hip dislocation, Protrusio acetabuli, Kyp...	OMIM:225400
Congenital Anomalies Of Kidney And Urinary Tract 3	Multicystic kidney dysplasia, Ectopic kidney, Renal hypoplasia, Vesicoureteral reflux, Hydronephr...	OMIM:618270
Spondylodysplastic Ehlers-Danlos Syndrome	Osteopenia, Joint dislocation, Multiple joint contractures, Generalized joint laxity, Flexion con...	ORPHA:536471
Floating-Harbor Syndrome	Enlarged joints, Short neck, Renal cyst, Nephrocalcinosis, Dislocated radial head, Hypospadias, C...	ORPHA:2044
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type	Hypoplasia of penis, Urethrovaginal fistula, Cryptorchidism, Abnormal pelvis bone ossification, S...	ORPHA:93271
Trisomy 10P	Wide cranial sutures, Abnormality of the kidney, Hemivertebrae, Multiple renal cysts, High palate...	ORPHA:171929
Sclerosteosis 1	Sclerotic scapulae, Broad clavicles, Irregular menstruation, Broad ribs, Sclerotic vertebral endp...	OMIM:269500
Gm1 Gangliosidosis	Camptodactyly of finger, Hyperlordosis, Joint stiffness, Kyphosis, Abnormal form of the vertebral...	ORPHA:354
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities	Metopic synostosis, Cryptorchidism, Unilateral renal agenesis	OMIM:620024
Renal Agenesis, Bilateral	Renal agenesis, Abnormal sacrum morphology, Tracheoesophageal fistula, Cleft palate, Sirenomelia,...	ORPHA:1848
Neurooculorenal Syndrome	Hypoplasia of the bladder, Intestinal malrotation, Unilateral renal agenesis, Aqueductal stenosis...	OMIM:620305
Hypophosphatasia	Narrow chest, Abnormal rib morphology, Recurrent fractures, Craniosynostosis	ORPHA:436
Methylmalonic Acidemia With Homocystinuria Type Cblf	Cleft palate, Methylmalonic aciduria, Glossitis, Unilateral renal agenesis	ORPHA:79284
Ulbright-Hodes Syndrome	Abnormal penis morphology, Short neck, Cryptorchidism, Humeroradial synostosis, Abnormal rib morp...	ORPHA:3404
Meckel Syndrome 14	Occipital encephalocele, Short neck, Decreased calvarial ossification, Holoprosencephaly, Polycys...	OMIM:619879
Fanconi Anemia, Complementation Group O	Cryptorchidism, Rectal atresia, Stage 5 chronic kidney disease, Renal cyst, Hydronephrosis, Anal ...	OMIM:613390
Autosomal Dominant Popliteal Pterygium Syndrome	Joint stiffness, Cryptorchidism, Abnormal rib morphology, Cleft palate, Popliteal pterygium, Scol...	ORPHA:1300
Simpson-Golabi-Behmel Syndrome, Type 1	Accelerated skeletal maturation, Renal cyst, Pectus carinatum, Vertebral segmentation defect, Exa...	OMIM:312870
Meckel Syndrome, Type 2	Encephalocele, Intestinal malrotation, Meningocele, Anencephaly, Renal cyst, Cleft palate	OMIM:603194
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Sacral dimple, Lumbar hyperlordosis, Limited elbow movement, Craniosynostosis, Increased interver...	ORPHA:508533
Thin Ribs-Tubular Bones-Dysmorphism Syndrome	Abnormal rib morphology	ORPHA:1506
Multiple Pterygium-Malignant Hyperthermia Syndrome	Prominent metopic ridge, Camptodactyly of finger, Pectus excavatum, Kyphosis, Cryptorchidism, Abn...	ORPHA:2215
Osteogenesis Imperfecta, Type I	Osteopenia, Recurrent fractures, Biconcave flattened vertebrae, Increased susceptibility to fract...	OMIM:166200
Microcephalic Primordial Dwarfism, Toriello Type	Delayed skeletal maturation, Abnormal rib morphology	ORPHA:2643
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome	Multicystic kidney dysplasia	ORPHA:2091
Smith-Lemli-Opitz Syndrome	Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Aganglionic megacolon, Short neck...	ORPHA:818
Hepatorenocardiac Degenerative Fibrosis	Renal cyst, Tubular luminal dilatation, Renal interstitial fibrosis, Reduced renal corticomedulla...	OMIM:619902
Fraser Syndrome	Encephalocele, Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Anal stenosis, Cry...	ORPHA:2052
Campomelic Dysplasia	Thoracic scoliosis, Cervical kyphosis, Delayed epiphyseal ossification, Patellar hypoplasia, Pect...	OMIM:114290
Craniosynostosis, Herrmann-Opitz Type	Craniosynostosis, Abnormality of the upper urinary tract, Abnormality of the urethra, Abnormal ri...	ORPHA:2145
Acrocephalopolydactylous Dysplasia	Hypoplastic colon, Craniosynostosis, Short neck, Hypoplasia of the small intestine, Cystic renal ...	OMIM:200995
Otopalatodigital Syndrome, Type Ii	Congenital hip dislocation, Elbow contracture, Short neck, Narrow chest, Hypospadias, Spina bifid...	OMIM:304120
Alagille Syndrome 1	Duplicated collecting system, Multiple small medullary renal cysts, Abnormal rib morphology, Hemi...	OMIM:118450
Meckel Syndrome, Type 4	Encephalocele, Hydrocephalus, Meningocele, Anencephaly, Cleft palate, Renal cyst	OMIM:611134
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Diffuse mesangial sclerosis, Horizontal inferior border of scapula, Platyspondyly, Anterior rib c...	OMIM:102700
Genitopalatocardiac Syndrome	Cleft palate, Hypospadias, Renal cyst	OMIM:231060
Waardenburg Syndrome, Type 1	Spina bifida, Myelomeningocele, Supernumerary ribs, Supernumerary vertebrae, Sprengel anomaly	OMIM:193500
Lowe Oculocerebrorenal Syndrome	Wrist swelling, Bicarbonaturia, Aminoaciduria, Renal Fanconi syndrome, Low-molecular-weight prote...	OMIM:309000
Fanconi Anemia, Complementation Group C	Duplicated collecting system, Renal agenesis, Hypergonadotropic hypogonadism, Ectopic kidney, Cry...	OMIM:227645
Renal Coloboma Syndrome	Renal insufficiency, Multicystic kidney dysplasia, Renal hypoplasia, Joint hyperflexibility, Vesi...	ORPHA:1475
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome	Glossoptosis, Multicystic kidney dysplasia, Meningocele, Renal cyst	ORPHA:2031
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome	Renal malrotation, Multicystic kidney dysplasia, Bifid ureter, Macroglossia, Camptodactyly, Nephr...	ORPHA:500095
Joubert Syndrome 35	Multicystic kidney dysplasia, Recurrent urinary tract infections, Pectus carinatum, Renal fibrosi...	OMIM:618161
Osteoglophonic Dysplasia	Osteopenia, Hypoplastic scapulae, Hypospadias, Camptodactyly of finger, Craniosynostosis, Short n...	OMIM:166250
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Lumbar hyperlordosis, Hypospadias, Cryptorchidism, Renal cyst, Furrowed tongue, High palate, Scol...	OMIM:616975
Congenital Megacalycosis	Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne...	ORPHA:93109
Phelan-Mcdermid Syndrome	Sacral dimple, Abnormality of the kidney, High palate, Polycystic kidney dysplasia, Vesicouretera...	OMIM:606232
Nephronophthisis 16	Renal insufficiency, Stage 5 chronic kidney disease, Polycystic kidney dysplasia, Nephronophthisi...	OMIM:615382
Spondylometaphyseal Dysplasia, Sedaghatian Type	11 pairs of ribs, Short neck, Cupped ribs, Horizontal inferior border of scapula, Delayed epiphys...	OMIM:250220
Thoracic Outlet Syndrome	Abnormal rib morphology	ORPHA:97330
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 4	Pectus excavatum, Wide anterior fontanel, Renal cortical cysts, Scoliosis, Vesicoureteral reflux	OMIM:618548
Bifid Nose With Or Without Anorectal And Renal Anomalies	Anteriorly placed anus, Renal agenesis, Unilateral renal agenesis, Rectovaginal fistula	OMIM:608980
Joubert Syndrome 14	Encephalocele, Hydrocephalus, Meningocele, Cleft palate, Renal cyst	OMIM:614424
Cutis Marmorata Telangiectatica Congenita	Displacement of the urethral meatus, Multicystic kidney dysplasia, Scoliosis, Reduced bone minera...	ORPHA:1556
Antley-Bixler Syndrome	Recurrent fractures, Craniosynostosis, Joint stiffness, Camptodactyly of finger, Abnormal renal m...	ORPHA:83
Meckel Syndrome, Type 5	Occipital encephalocele, Anencephaly, Cleft palate, Renal cyst	OMIM:611561
Williams Syndrome	Osteopenia, Hypoplasia of penis, Rectal prolapse, Abnormal form of the vertebral bodies, Abnormal...	ORPHA:904
Roberts Syndrome	Progressive flexion contractures, Craniosynostosis, Short neck, Cryptorchidism, Long penis, Patel...	ORPHA:3103
Cranioectodermal Dysplasia 2	Joint laxity, Renal insufficiency, Craniosynostosis, Short neck, Pectus excavatum, Renal cyst, Cl...	OMIM:613610
Distal Deletion 12Q	Unilateral cryptorchidism, Kyphoscoliosis, Ectopic kidney, Short neck, Wide anterior fontanel, Hi...	ORPHA:96149
Aspartylglucosaminuria	Joint laxity, Aspartylglucosaminuria, Kyphosis, Delayed skeletal maturation, Macroglossia, Platys...	OMIM:208400
Joubert Syndrome 2	Encephalocele, Renal insufficiency, Hydrocephalus, Renal cyst, High palate, Metopic synostosis, N...	OMIM:608091
Zellweger Syndrome	Multicystic kidney dysplasia, Hypospadias, Malabsorption, Wide anterior fontanel, Cryptorchidism,...	ORPHA:912
Townes-Brocks Syndrome	Hypoplasia of penis, Renal insufficiency, Hypospadias, Abnormality of the kidney, Urethral valve,...	ORPHA:857
Mullerian Aplasia And Hyperandrogenism	Primary amenorrhea, Unilateral renal agenesis	OMIM:158330
Tetrasomy 9P	Joint dislocation, Short neck, High palate, Micropenis, Bifid uvula, Cryptorchidism, Multiple ren...	ORPHA:3310
Mucopolysaccharidosis Type 3	Abnormal clavicle morphology, Joint stiffness, Heparan sulfate excretion in urine, Avascular necr...	ORPHA:581
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Renal insufficiency, Proteinuria, Lateral clavicle hook, Pancreatic cysts, Chronic kidney disease...	OMIM:208500
Joubert Syndrome 20	Renal cyst	OMIM:614970
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome	Renal insufficiency, Unilateral renal agenesis, Cleft palate, Hydronephrosis, Polycystic kidney d...	ORPHA:2237
Nestor-Guillermo Progeria Syndrome	Wide cranial sutures, Limited elbow movement, Delayed closure of the anterior fontanelle, Joint s...	OMIM:614008
Fibrous Dysplasia Of Bone	Abnormal clavicle morphology, Osteomalacia, Testicular neoplasm, Abnormal rib morphology, Bone pa...	ORPHA:249
Bor Syndrome	Branchial cyst, Renal insufficiency, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Clef...	ORPHA:107
22Q11.2 Deletion Syndrome	Short neck, Vesicoureteral reflux, Hypospadias, Spina bifida, Cryptorchidism, Abnormal thorax mor...	ORPHA:567
Medullary cystic kidney disease 2	Multiple small medullary renal cysts, Stage 5 chronic kidney disease, Gout, Enuresis, Tubulointer...	OMIM:603860
Pyknoachondrogenesis	Abnormal intramembranous ossification, Short thorax, Poorly ossified vertebrae, Enlarged thorax, ...	ORPHA:3003
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease	Renal insufficiency, Hepatic cysts, Stage 5 chronic kidney disease, Gout, Polycystic kidney dyspl...	OMIM:618061
Marshall Syndrome	Platyspondyly, Knee osteoarthritis, Bifid uvula, Cleft palate	OMIM:154780
Ulna And Fibula, Absence Of, With Severe Limb Deficiency	Short neck, Hemivertebrae, Pectus carinatum, High palate, Broad ribs, Elbow ankylosis, Barrel-sha...	OMIM:276820
Spondyloepimetaphyseal Dysplasia, X-Linked	Joint laxity, Lumbar hyperlordosis, Hypoplasia of the odontoid process, Kyphosis, Limited elbow e...	OMIM:300106
Kagami-Ogata Syndrome	Kyphoscoliosis, Short neck, Large placenta, Limitation of joint mobility, Bell-shaped thorax, Coa...	ORPHA:254519
Renal Hypoplasia, Bilateral	Proteinuria, Cryptorchidism, Chronic kidney disease, Oliguria, Renal hypoplasia, Renal cyst, Beta...	ORPHA:97362
Acrocapitofemoral Dysplasia	Lumbar hyperlordosis, Ovoid vertebral bodies, Pectus excavatum, Cupped ribs, Pectus carinatum, De...	OMIM:607778
Peroxisome Biogenesis Disorder 5A (Zellweger)	Persistent open anterior fontanelle, Hypospadias, Wide anterior fontanel, Cryptorchidism, Renal c...	OMIM:614866
C Syndrome	Joint dislocation, Sacral dimple, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Short n...	ORPHA:1308
Peroxisome Biogenesis Disorder 2A (Zellweger)	Cryptorchidism, Cleft palate, Aminoaciduria, Polycystic kidney dysplasia, Camptodactyly, Cubitus ...	OMIM:214110
Autosomal Dominant Polycystic Kidney Disease	Renal insufficiency, Recurrent urinary tract infections, Hepatic cysts, Pancreatic cysts, Chronic...	ORPHA:730
Nephronophthisis 14	Polycystic kidney dysplasia, Nephronophthisis	OMIM:614844
Van Den Ende-Gupta Syndrome	Sacral dimple, Hypoplastic scapulae, Glenoid fossa hypoplasia, Craniosynostosis, Lateral clavicle...	OMIM:600920
Alagille Syndrome 2	Renal insufficiency, Proteinuria, Renal hypoplasia, Renal cyst, Hematuria, Renal tubular acidosis	OMIM:610205
Meckel Syndrome, Type 1	Occipital encephalocele, Hypoplasia of the bladder, Renal agenesis, Camptodactyly of finger, Inte...	OMIM:249000
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome	Cryptorchidism, Craniosynostosis, Renal cyst, Horseshoe kidney	ORPHA:166035
Loeys-Dietz Syndrome 3	Joint laxity, Protrusio acetabuli, Craniosynostosis, Eosinophilic infiltration of the esophagus, ...	OMIM:613795
Axial Osteomalacia	Increased bone mineral density, Osteomalacia, Renal cyst	OMIM:109130
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	Cryptorchidism, Cystic renal dysplasia, Ectopic kidney	OMIM:613730
Birt-Hogg-Dube Syndrome 1	Renal neoplasm, Renal cyst, Renal cell carcinoma, Large intestinal polyposis, Colon cancer	OMIM:135150
Scalp-Ear-Nipple Syndrome	Renal insufficiency, Unilateral renal agenesis, Renal hypoplasia, Pyelonephritis, Bifid uvula	OMIM:181270
Atypical Werner Syndrome	Sclerosis of hand bone, Renal neoplasm, Increased bone mineral density, Premature ovarian insuffi...	ORPHA:79474
Spondyloepimetaphyseal Dysplasia, Genevieve Type	Joint laxity, Short neck, Advanced ossification of carpal bones, Flat acetabular roof, Irregular ...	OMIM:610442
Proteus Syndrome	Testicular neoplasm, Joint stiffness, Craniosynostosis, Kyphosis, Enlarged polycystic ovaries, Lo...	ORPHA:744
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Renal insufficiency, Hepatic cysts, Absence of renal corticomedullary differentiation, Pancreatic...	OMIM:263200
Stickler Syndrome	Joint dislocation, Protrusio acetabuli, Kyphosis, Osteoarthritis, Bone pain, Spinal canal stenosi...	ORPHA:828
Cystic Hamartoma Of Lung And Kidney	Multicystic kidney dysplasia	ORPHA:2111
Meckel Syndrome, Type 6	Occipital encephalocele, Hydrocephalus, Anencephaly, Renal cyst, Horseshoe kidney, Cleft palate, ...	OMIM:612284
Combined Oxidative Phosphorylation Deficiency 11	Renal insufficiency, Renal hypoplasia, Renal cyst, Renal tubular acidosis, Renal dysplasia	OMIM:614922
Renal Dysplasia	Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure...	ORPHA:93108
Say Syndrome	Proximal renal tubular acidosis, Cleft palate, Cystic renal dysplasia	OMIM:181180
Craniotubular Dysplasia, Ikegawa Type	Increased intervertebral space, Broad ribs, Platyspondyly, Sclerosis of skull base	OMIM:619727
Bardet-Biedl Syndrome 17	Polyuria, Stage 5 chronic kidney disease, Renal cyst, Hypogonadism, Micropenis	OMIM:615994
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Ureteral duplication, Renal insufficiency, Long-chain dicarboxylic aciduria, Elbow flexion contra...	OMIM:608836
Branchiooculofacial Syndrome	Hypospadias, Renal agenesis, Hyperlordosis, Short neck, Kyphosis, Cryptorchidism, Malrotation of ...	OMIM:113620
Monosomy 9P	Hypospadias, Short neck, Cryptorchidism, Limitation of joint mobility, Abnormal rib morphology, C...	ORPHA:261112
Congenital Bile Acid Synthesis Defect Type 2	Dark urine, Rickets, Renal cyst, Steatorrhea, Fat malabsorption	ORPHA:79303
Sponastrime Dysplasia	Joint laxity, Lumbar hyperlordosis, Hypospadias, Kyphoscoliosis, Avascular necrosis of the capita...	ORPHA:93357
Multiple Acyl-Coa Dehydrogenase Deficiency	Wide anterior fontanel, Glutaric aciduria, Generalized aminoaciduria, Renal cortical cysts, Proxi...	OMIM:231680
Genitopatellar Syndrome	Hip contracture, Multicystic kidney dysplasia, Cryptorchidism, Patellar aplasia, Knee flexion con...	ORPHA:85201
Meckel Syndrome, Type 3	Occipital encephalocele, Multicystic kidney dysplasia, Hydrocephalus, Cleft palate	OMIM:607361
Microgastria-Limb Reduction Defect Syndrome	Multicystic kidney dysplasia, Renal agenesis, Intestinal malrotation, Aplastic clavicle, Renal hy...	ORPHA:2538
Genitopatellar Syndrome	Hip contracture, Multicystic kidney dysplasia, Congenital hip dislocation, Anal stenosis, Cryptor...	OMIM:606170
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome	Increased urine alpha-ketoglutarate concentration, Renal agenesis, Cleft palate, High palate, Cys...	OMIM:220500
Mckusick-Kaufman Syndrome	Urethral stricture, Multicystic kidney dysplasia, Aganglionic megacolon, Tarsal synostosis, Renal...	ORPHA:2473
Distal Renal Tubular Acidosis	Hyperphosphaturia, Osteomalacia, Hypocitraturia, Bone pain, Nephrolithiasis, Renal cyst, Hypercal...	ORPHA:18
Congenital Disorder Of Glycosylation, Type Ib	Villous atrophy, Renal cyst, Proximal tubulopathy, Protein-losing enteropathy, Steatorrhea	OMIM:602579
Von Hippel-Lindau Disease	Back pain, Elevated urinary catecholamine level, Pancreatic cysts, Limb pain, Renal cell carcinom...	ORPHA:892
Fetal Akinesia Deformation Sequence 1	Hip contracture, Elbow contracture, Camptodactyly of finger, Short neck, Cryptorchidism, High, na...	OMIM:208150
Peters Plus Syndrome	Ureteral duplication, Sacral dimple, Multicystic kidney dysplasia, Hypospadias, Intestinal fistul...	ORPHA:709
Peutz-Jeghers Syndrome	Intestinal obstruction, Esophageal neoplasm, Enlarged polycystic ovaries, Rectal prolapse, Abnorm...	ORPHA:2869
Ogden Syndrome	Global glomerulosclerosis, Prominent metopic ridge, Congenital hip dislocation, Delayed cranial s...	OMIM:300855
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome	Hypospadias, Short neck, Cryptorchidism, Renal cyst, Anteriorly placed anus	ORPHA:495875
D-Bifunctional Protein Deficiency	Osteopenia, Delayed cranial suture closure, Pectus excavatum, Delayed skeletal maturation, Renal ...	OMIM:261515
Nabais Sa-De Vries Syndrome, Type 2	Multicystic kidney dysplasia, High palate, Bilateral cleft lip and palate	OMIM:618829
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome	Broad ribs, Abnormal sternum morphology, Abnormal rib morphology, Short ribs	ORPHA:2519
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease	Glomerulopathy, Multicystic kidney dysplasia, Renal insufficiency, Hypospadias, Renal agenesis, P...	ORPHA:93111
Hyperparathyroidism 2 With Jaw Tumors	Nephrolithiasis, Papillary renal cell carcinoma, Polycystic kidney dysplasia, Nephroblastoma, Ren...	OMIM:145001
Interstitial Nephritis, Karyomegalic	Renal tubular cyst, Proteinuria, Stage 5 chronic kidney disease, Hematuria, Tubulointerstitial ne...	OMIM:614817
Charge Syndrome	Hypogonadotropic hypogonadism, Abnormal soft palate morphology, Cryptorchidism, Aqueductal stenos...	ORPHA:138
Pagod Syndrome	Encephalocele, Abnormal clavicle morphology, Multicystic kidney dysplasia, Spina bifida, Renal hy...	ORPHA:991
Proboscis Lateralis	Unilateral renal agenesis, Ureteral agenesis, Duplication of renal pelvis, High palate, Holoprose...	ORPHA:141099
3-Methylglutaconic Aciduria Type 7	Nephrocalcinosis, Renal insufficiency, 3-Methylglutaconic aciduria, Renal cyst	ORPHA:445038
Joubert Syndrome 1	Protruding tongue, Renal cyst, Occipital myelomeningocele, Macroglossia, Nephropathy	OMIM:213300
Joubert Syndrome 21	Encephalocele, Occipital encephalocele, Renal cyst, Bell-shaped thorax, Short ribs, Hyperechogeni...	OMIM:615636
Trisomy 18	Camptodactyly of finger, Abnormality of the upper urinary tract, Spina bifida, Cryptorchidism, De...	ORPHA:3380
Hyperparathyroidism-Jaw Tumor Syndrome	Renal insufficiency, Renal hamartoma, Testicular neoplasm, Peptic ulcer, Bone pain, Nephrolithias...	ORPHA:99880
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps	Hematuria, Renal insufficiency, Renal cyst	OMIM:611773
Restrictive Dermopathy	Osteopenia, Thoracic kyphoscoliosis, Ureteral duplication, Aplasia/Hypoplasia of the clavicles, H...	ORPHA:1662
Parathyroid Carcinoma	Renal insufficiency, Renal hamartoma, Testicular neoplasm, Peptic ulcer, Bone pain, Nephrolithias...	ORPHA:143
Congenital Disorder Of Glycosylation, Type If	Wide anterior fontanel, Flexion contracture, Renal cortical cysts	OMIM:609180
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Hydroureter, Aganglionic megacolon, Abnormality of the kidney, Abnormality of the upper urinary t...	ORPHA:2273
Cornelia De Lange Syndrome	Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Renal insufficiency, Intestinal m...	ORPHA:199
Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome	Cryptorchidism, Multicystic kidney dysplasia, Fetal megacystis, Intestinal pseudo-obstruction	ORPHA:73246
Oculocerebrocutaneous Syndrome	Congenital hip dislocation, Missing ribs, Cryptorchidism, Hydrocephalus, Abnormal rib morphology	ORPHA:1647
Retinitis Pigmentosa With Or Without Skeletal Anomalies	Craniosynostosis, Renal cyst, Horseshoe kidney	OMIM:250410
Arima Syndrome	Proteinuria, Polyuria, Esophageal varix, Stage 5 chronic kidney disease, Hematuria, Renal cortico...	OMIM:243910
Dextrocardia	Congenital hip dislocation, Intestinal malrotation, Hydrocephalus, Abnormal renal morphology, Abn...	ORPHA:1666
Polycystic Liver Disease 4 With Or Without Kidney Cysts	Hepatic cysts, Renal cyst	OMIM:617875
Polycystic Liver Disease 3 With Or Without Kidney Cysts	Hepatic cysts, Renal cyst	OMIM:617874
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease	Renal insufficiency, Recurrent urinary tract infections, Stage 5 chronic kidney disease, Multiple...	OMIM:613095
Charge Syndrome	Anal stenosis, Renal agenesis, Hypogonadotropic hypogonadism, Down-sloping shoulders, Cryptorchid...	OMIM:214800
Msh3-Related Attenuated Familial Adenomatous Polyposis	Ovarian dermoid cyst, Juvenile gastrointestinal polyposis, Adenomatous colonic polyposis, Multipl...	ORPHA:480536
Bardet-Biedl Syndrome 6	Hypospadias, Renal cyst	OMIM:605231
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease	Colonic diverticula, Renal insufficiency, Hepatic cysts, Polycystic kidney dysplasia	OMIM:173900
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2	Renal cortical atrophy, Impaired renal uric acid clearance, Tubular basement membrane disintegrat...	OMIM:174000
Fontaine Progeroid Syndrome	Craniosynostosis, Protruding tongue, Wide anterior fontanel, Cryptorchidism, Delayed skeletal mat...	OMIM:612289
Carnitine Palmitoyltransferase Ii Deficiency	Hydrocephalus, Red-brown urine, Stage 5 chronic kidney disease, Renal tubular epithelial necrosis...	ORPHA:157
Peroxisome Biogenesis Disorder 4A (Zellweger)	Epiphyseal stippling, Renal cyst	OMIM:614862
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Renal insufficiency, Dicarboxylic aciduria, High, narrow palate, Hydrocephalus, Red-brown urine, ...	ORPHA:228308
Severe Generalized Junctional Epidermolysis Bullosa	Urethral stricture, Duplicated collecting system, Multicystic kidney dysplasia, Recurrent urinary...	ORPHA:79404
Sotos Syndrome	Ureteral duplication, Accelerated skeletal maturation, Flexion contracture, Vesicoureteral reflux...	ORPHA:821
Polysyndactyly With Cardiac Malformation	Hepatic cysts, Renal cyst	OMIM:263630
Joubert Syndrome 39	Occipital encephalocele, Joint contracture of the 5th finger, Polycystic kidney dysplasia	OMIM:619562
Hypocalciuric Hypercalcemia, Familial, Type Iii	Renal insufficiency, Osteomalacia, Parathormone-independent increased renal tubular calcium reabs...	OMIM:600740
Neuromuscular Oculoauditory Syndrome	Reduced renal corticomedullary differentiation, Wrist flexion contracture, Multiple renal cysts, ...	OMIM:618733
Branchio-Oculo-Facial Syndrome	High palate, Multicystic kidney dysplasia, Renal agenesis, Hydronephrosis	ORPHA:1297
Otofaciocervical Syndrome 2, With T-Cell Deficiency	Scapular winging, Down-sloping shoulders, Renal cyst	OMIM:615560
Transketolase Deficiency	Secondary amenorrhea, Increased level of ribose in urine, Renal cyst	ORPHA:488618
Orofaciodigital Syndrome I	Proteinuria, Hamartoma of tongue, Pancreatic cysts, Myelomeningocele, Hydrocephalus, Cleft palate...	OMIM:311200
46,Xx Difference Of Sex Development-Anorectal Anomalies Syndrome	Anal atresia, Multicystic kidney dysplasia, Hydroureter, Intestinal malrotation, Renal hypoplasia...	ORPHA:2973
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13	11 pairs of ribs, Occipital encephalocele, Multicystic kidney dysplasia, Decreased testicular siz...	OMIM:615287
Beckwith-Wiedemann Syndrome	Ureteral duplication, Prominent metopic ridge, Accelerated skeletal maturation, Wide anterior fon...	ORPHA:116
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome	Multicystic kidney dysplasia, Hydroureter, Intestinal malrotation, Cryptorchidism, Megacystis, Um...	ORPHA:2241
Roberts-Sc Phocomelia Syndrome	Hypospadias, Ankle flexion contracture, Short neck, Craniosynostosis, Cryptorchidism, Hydrocephal...	OMIM:268300
Ear-Patella-Short Stature Syndrome	Hypoplasia of penis, Hypospadias, Camptodactyly of finger, Aplastic clavicle, Craniosynostosis, E...	ORPHA:2554
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease	Hepatic cysts, Polycystic kidney dysplasia	OMIM:600666
Orofaciodigital Syndrome Type 1	Renal insufficiency, Multicystic kidney dysplasia, Proteinuria, Tarsal synostosis, Hamartoma of t...	ORPHA:2750
Meckel Syndrome	Encephalocele, Ureteral duplication, Multicystic kidney dysplasia, Aplasia/Hypoplasia of the tong...	ORPHA:564
Townes-Brocks Syndrome 1	Multicystic kidney dysplasia, Renal insufficiency, Hypospadias, Urethral valve, Anal stenosis, Re...	OMIM:107480
Mosaic Variegated Aneuploidy Syndrome	Intestinal polyposis, Multicystic kidney dysplasia, Osteolysis, Cleft palate, Colon cancer, Holop...	ORPHA:1052
Mowat-Wilson Syndrome	Urinary incontinence, Cleft hard palate, Flexion contracture, Pectus carinatum, Vesicoureteral re...	ORPHA:2152
Familial Adenomatous Polyposis 4	Duodenal polyposis, Gastric adenocarcinoma, Adenomatous colonic polyposis, Renal cyst, Ovarian cyst	OMIM:617100
Pallister-Killian Syndrome	Congenital hip dislocation, Short neck, Flexion contracture, Renal cyst, Anteriorly placed anus, ...	OMIM:601803
Renal-Hepatic-Pancreatic Dysplasia 1	Renal insufficiency, Intestinal malrotation, Hepatic cysts, Pancreatic cysts, Stage 5 chronic kid...	OMIM:208540
Mpdu1-Cdg	Wide anterior fontanel, Renal cortical cysts	ORPHA:79323
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Urinary incontinence, Cleft hard palate, Flexion contracture, Pectus carinatum, Vesicoureteral re...	ORPHA:261537
Mody	Nephropathy, Abnormality of the kidney, Renal cyst, Glycosuria	ORPHA:552
Renal-Hepatic-Pancreatic Dysplasia 2	Hepatic cysts, Cystic renal dysplasia, Enlarged kidney	OMIM:615415
Penile Agenesis	Urethral atresia, male, Hydroureter, Rectal fistula, Cryptorchidism, Fetal pyelectasis, Bilateral...	ORPHA:49
Peroxisome Biogenesis Disorder 1B	Hyperoxaluria, Renal cyst, Epiphyseal stippling	OMIM:601539
Campomelia, Cumming Type	Pancreatic cysts, Polycystic kidney dysplasia	OMIM:211890
Mckusick-Kaufman Syndrome	Hydroureter, Congenital hip dislocation, Aganglionic megacolon, Cryptorchidism, Rectovaginal fist...	OMIM:236700
Distal Deletion 15Q	Multicystic kidney dysplasia, Hypospadias, Cryptorchidism, Generalized joint laxity, Hip dislocat...	ORPHA:1596
Tuberous Sclerosis Complex	Renal insufficiency, Abnormality of the kidney, Chronic kidney disease, Stage 5 chronic kidney di...	ORPHA:805
Hereditary Acrokeratotic Poikiloderma	Camptodactyly of finger, Abnormal preputium morphology, Abnormality of the urethra, Abnormal rib ...	ORPHA:2907
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies	Renal dysplasia, Renal cyst	OMIM:617260
17Q12 Microdeletion Syndrome	Renal insufficiency, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Cryptorchidism, Uret...	ORPHA:261265
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Urinary incontinence, Cleft hard palate, Flexion contracture, Pectus carinatum, Vesicoureteral re...	ORPHA:261552
Pmm2-Cdg	Osteopenia, Joint laxity, Multiple joint contractures, Proteinuria, Hypogonadotropic hypogonadism...	ORPHA:79318
Attenuated Familial Adenomatous Polyposis	Duodenal polyposis, Neoplasm of the stomach, Rectal polyposis, Adenomatous colonic polyposis, Mul...	ORPHA:220460
Histiocytoid Cardiomyopathy	Cleft palate, Hydrocephalus, Renal cyst, Polycystic ovaries	ORPHA:137675
Meckel Syndrome, Type 7	Pancreatic cysts, Multicystic kidney dysplasia, Multiple glomerular cysts, Stage 5 chronic kidney...	OMIM:267010
Thauvin-Robinet-Faivre Syndrome	Renal malrotation, Renal cyst, Macroglossia, Nephroblastoma, Bifid ureter, Renal dysplasia	OMIM:617107
Bardet-Biedl Syndrome 12	Hydronephrosis, Hydroureter, Hypogonadism, Cystic renal dysplasia	OMIM:615989
Kindler Epidermolysis Bullosa	Urethral stricture, Camptodactyly of finger, Phimosis, Esophageal stricture, Flexion contracture,...	ORPHA:2908
Pearson Syndrome	Renal insufficiency, Proteinuria, Lacticaciduria, Renal cyst, Steatorrhea, Glycosuria, Median cle...	ORPHA:699
Polycystic Kidney Disease, Infantile Severe, With Tuberous Sclerosis	Renal angiomyolipoma, Polycystic kidney dysplasia	OMIM:600273
Tuberous Sclerosis 2	Renal angiomyolipoma, Renal cell carcinoma, Renal cyst, Absence of renal corticomedullary differe...	OMIM:613254
Joubert Syndrome 5	Occipital encephalocele, Impaired renal concentrating ability, Stage 5 chronic kidney disease, Re...	OMIM:610188
Autosomal Recessive Polycystic Kidney Disease	Recurrent urinary tract infections, Renal insufficiency, Pancreatic cysts, Esophageal varix, Olig...	ORPHA:731
Tuberous Sclerosis 1	Renal angiomyolipoma, Renal cell carcinoma, Renal cyst	OMIM:191100
Structural Heart Defects And Renal Anomalies Syndrome	Renal insufficiency, Renal cyst	OMIM:617478
Syndromic Diarrhea	Villous atrophy, Gastritis, Renal hypoplasia, Colitis, Polycystic kidney dysplasia	ORPHA:84064
Immunodeficiency 96	Multicystic kidney dysplasia	OMIM:619774
Beckwith-Wiedemann Syndrome	Prominent metopic ridge, Accelerated skeletal maturation, Cryptorchidism, Nephrolithiasis, Renal ...	OMIM:130650
Lymphangioleiomyomatosis	Abnormal urinary color, Renal neoplasm, Hydrocephalus, Hematuria, Multiple renal cysts, Renal ang...	ORPHA:538
Caroli Disease	Esophageal varix, Polycystic kidney dysplasia	ORPHA:53035
Autosomal Recessive Malignant Osteopetrosis	Recurrent fractures, Craniosynostosis, Hydrocephalus, Bone pain, Abnormal rib morphology, Reduced...	ORPHA:667
Von Hippel-Lindau Syndrome	Pancreatic cysts, Renal cell carcinoma, Multiple renal cysts, Epididymal cyst	OMIM:193300
Caroli Syndrome	Esophageal varix, Abnormality of the kidney, Polycystic kidney dysplasia	ORPHA:480520

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 Tbx6

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 Tbx6.

No publications found that use IMPC mice or data for Tbx6.

Order Mouse and ES Cells

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.

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

The IMPC Newsletter

Get highlights of the most important data releases, news and events, delivered straight to your email inbox

Subscribe to newsletter

My Genes

About the IMPC

Data

Human Diseases

Publications

News

Blog

Help

IMPC Cloud

Contact us