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Gene: Dcaf15 MGI:2684420

Gene Summary

Name:

DDB1 and CUL4 associated factor 15

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.

Phenotype	Allele	Zyg	Life Stage	P Value
abnormal caudal vertebrae morphology	Dcaf15^{tm1a(EUCOMM)Hmgu}	HOM	Early adult	8.05×10^-08
abnormal vertebral arch morphology	Dcaf15^{tm1a(EUCOMM)Hmgu}	HOM	Early adult	3.01×10^-07
abnormal vertebrae morphology	Dcaf15^{tm1a(EUCOMM)Hmgu}	HOM	Early adult	7.63×10^-06
rib fusion	Dcaf15^{tm1a(EUCOMM)Hmgu}	HOM	Early adult	8.07×10^-06
abnormal rib morphology	Dcaf15^{tm1a(EUCOMM)Hmgu}	HOM	Early adult	3.52×10^-07
abnormal maxilla morphology	Dcaf15^{tm1a(EUCOMM)Hmgu}	HOM	Early adult	1.11×10^-05

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Human diseases caused by Dcaf15 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 Dcaf15 (0 diseases)
Human diseases predicted to be associated with Dcaf15 (455 diseases)

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

The table below shows human diseases predicted to be associated to Dcaf15 by phenotypic similarity.

Disease	Matching phenotypes	Source
Spondylocostal Dysostosis 2, Autosomal Recessive	Short neck, Vertebral clefting, Rib fusion, Hemivertebrae, Vertebral segmentation defect	OMIM:608681
Spondylocostal Dysostosis 3, Autosomal Recessive	Kyphosis, Hypoplasia of the odontoid process, Rib fusion, Vertebral segmentation defect, Scoliosi...	OMIM:609813
Spondylocostal Dysostosis 5	Vertebral fusion, Low back pain, Missing ribs, Short neck, Hemivertebrae, Pectus carinatum, Poste...	OMIM:122600
Spondylocostal Dysostosis 1, Autosomal Recessive	Back pain, Vertebral fusion, Block vertebrae, Abnormal odontoid process morphology, Kyphoscoliosi...	OMIM:277300
Autosomal Dominant Spondylocostal Dysostosis	Short neck, Missing ribs, Hyperlordosis, Abnormal sacrum morphology, Short thorax, Abnormal rib m...	ORPHA:1797
Endosteal Hyperostosis, Worth Type	Mandibular prognathia, Craniofacial hyperostosis, Sclerotic vertebral body, Abnormal rib morpholo...	ORPHA:2790
Cervical Rib	Cervical ribs	OMIM:117900
Brachyolmia, Maroteaux Type	Pectus excavatum, Short thorax, Abnormal form of the vertebral bodies, Platyspondyly, Scoliosis	ORPHA:93302
Poland Syndrome	Sprengel anomaly, Rib fusion, Short ribs, Hemivertebrae	OMIM:173800
Sprengel Deformity	Rib segmentation abnormalities, Cervical segmentation defect, Hemivertebrae, Scoliosis, Sprengel ...	OMIM:184400
Cervical Vertebral Dysplasia	Cervical vertebral dysplasia, Cervical vertebral facet hypoplasia, Anterior atlanto-occipital dis...	OMIM:118005
Autosomal Dominant Brachyolmia	Increased vertebral height, Platyspondyly, Short thorax, Kyphoscoliosis	ORPHA:93304
Becker Nevus Syndrome	Pectus excavatum, Kyphosis, Rib fusion, Pectus carinatum, Supernumerary ribs, Scoliosis, Spina bi...	ORPHA:64755
Neurogenic Thoracic Outlet Syndrome	Abnormal rib morphology	ORPHA:100073
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome	Abnormal rib morphology, Scoliosis, Pectus carinatum	ORPHA:3268
Kyphomelic Dysplasia	Anterior rib cupping, Missing ribs, Lateral clavicle hook, Micrognathia, Short thorax, Undulate r...	ORPHA:1801
Spondylocostal Dysostosis 4, Autosomal Recessive	Vertebral fusion, Abnormal odontoid process morphology, Block vertebrae, Missing ribs, Pectus exc...	OMIM:613686
Primary Basilar Invagination	Abnormality of the cervical spine, Abnormal vertebral morphology, Short neck	ORPHA:2285
Heart Defects-Limb Shortening Syndrome	Kyphosis, Abnormal rib morphology, Narrow chest, Abnormal form of the vertebral bodies	ORPHA:1354
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies	Superior rib anomalies, Abnormality of the cervical spine	OMIM:307500
Intellectual Developmental Disorder, X-Linked, Syndromic 14	Mandibular prognathia, Pectus excavatum, Kyphosis, Hypoplasia of the maxilla, Pectus carinatum, N...	OMIM:300676
Acromesomelic Dysplasia, Maroteaux Type	Ovoid vertebral bodies, Hyperlordosis, Kyphosis, Abnormal form of the vertebral bodies, Sprengel ...	ORPHA:40
Autosomal Recessive Spondylocostal Dysostosis	Rib segmentation abnormalities, Abnormal intervertebral disk morphology, Short neck, Kyphosis, Sh...	ORPHA:2311
Femoral-Facial Syndrome	Micrognathia, Abnormal sacrum morphology, Rib fusion, Abnormal rib morphology, Vertebral segmenta...	ORPHA:1988
Dental Anomalies And Short Stature	Mandibular prognathia, Hypoplasia of the maxilla, Platyspondyly, Herniation of intervertebral nuc...	OMIM:601216
Spondylometaphyseal Dysplasia, A4 Type	Platyspondyly, Flared, irregular rib ends	ORPHA:168555
Becker Nevus Syndrome	Pectus excavatum, Cervical ribs, Hemivertebrae, Scoliosis	OMIM:604919
Spondylocostal Dysostosis 6, Autosomal Recessive	Cervical kyphosis, Hemivertebrae, Spinal canal stenosis, Scoliosis, Butterfly vertebrae	OMIM:616566
Osteogenesis Imperfecta, Type Ix	Beaded ribs, Pectus excavatum, Kyphosis, Pectus carinatum, Platyspondyly, Scoliosis, Dentinogenes...	OMIM:259440
Thoracolaryngopelvic Dysplasia	Irregular chondrocostal junctions, Bell-shaped thorax, Irregular vertebral endplates, Short ribs,...	OMIM:187760
Osteomesopyknosis	Kyphosis, Sclerotic vertebral body, Scoliosis, Abnormal form of the vertebral bodies	ORPHA:2777
Galactosialidosis	Abnormality of the vertebral column, Abnormal vertebral morphology	ORPHA:351
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome	Abnormal rib morphology	ORPHA:2435
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly	Hypoplasia of the maxilla, Multiple small vertebral fractures, Osteoporosis of vertebrae, Platysp...	OMIM:156510
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome	Micrognathia, Abnormal vertebral morphology, Short neck	ORPHA:2015
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies	Vertebral fusion, Block vertebrae, Short neck, Missing ribs, Rib fusion, Hemivertebrae, Thin ribs...	OMIM:271520
Fibrochondrogenesis 2	Micrognathia, Cupped ribs, Bell-shaped thorax, Platyspondyly, Short ribs, Malar flattening, Thora...	OMIM:614524
Metatropic Dysplasia	Abnormal intervertebral disk morphology, Kyphosis, Abnormal rib morphology, Abnormal form of the ...	ORPHA:2635
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2	Vertebral segmentation defect, Abnormal rib morphology, Short neck	ORPHA:2578
Diaphanospondylodysostosis	Short neck, Missing ribs, Short thorax, Enlarged thorax, Absent or minimally ossified vertebral b...	ORPHA:66637
Cerebrofaciothoracic Dysplasia	Short neck, Rib fusion, Hemivertebrae, Vertebral segmentation defect, Narrow chest, Bifid ribs, S...	ORPHA:1394
Microcephaly-Cervical Spine Fusion Anomalies Syndrome	Abnormal clavicle morphology, Hyperlordosis, Pectus excavatum, Short neck, Kyphosis, Micrognathia...	ORPHA:2522
Spondylospinal Thoracic Dysostosis	Hypoplasia of the maxilla, Short thorax, Micrognathia	OMIM:601809
Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant	Barrel-shaped chest, Lumbar hyperlordosis, Kyphoscoliosis, Short neck, Hypoplasia of the odontoid...	OMIM:184100
Isolated Klippel-Feil Syndrome	Short neck, Abnormal sacrum morphology, Abnormal rib morphology, Abnormal shoulder morphology, Ab...	ORPHA:2345
Kuskokwim Syndrome	Abnormal clavicle morphology, Scoliosis, Abnormal form of the vertebral bodies	ORPHA:1149
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome	Mandibular prognathia, Abnormal dental enamel morphology, Abnormal rib morphology, Hemivertebrae,...	ORPHA:2180
Acropectorovertebral Dysplasia	Spina bifida occulta at L5, Abnormal thorax morphology, Abnormal vertebral morphology, Spina bifi...	OMIM:102510
Spondylometaphyseal Dysplasia, Type A4	Ovoid vertebral bodies, Enlargement of the costochondral junction, Pectus carinatum, Platyspondyl...	OMIM:609052
Myotonia With Skeletal Abnormalities And Mental Retardation	Bell-shaped thorax, Vertebral wedging, Kyphoscoliosis, Pectus carinatum	OMIM:255710
Acrodysplasia Scoliosis	Vertebral segmentation defect, Spina bifida occulta, Scoliosis	ORPHA:2956
Maxillonasal Dysplasia	Mandibular prognathia, Hypoplasia of the maxilla, Vertebral clefting, Scoliosis, Patchy distortio...	ORPHA:1248
Greenberg Dysplasia	Abnormally ossified vertebrae, Micrognathia, Anterior rib punctate calcifications, Abnormal form ...	ORPHA:1426
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome	Abnormal clavicle morphology, Short neck, Micrognathia, Abnormal rib morphology, Platyspondyly, N...	ORPHA:93267
Craniodiaphyseal Dysplasia	Craniofacial hyperostosis, Abnormal rib morphology	ORPHA:1513
Spondylometaphyseal Dysplasia, Axial	Anterior rib cupping, Platyspondyly, Narrow chest, Scoliosis, Thoracic hypoplasia	OMIM:602271
Osteogenesis Imperfecta, Type Xv	Platyspondyly, Scoliosis, Thin ribs	OMIM:615220
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies	Pectus excavatum, Hypoplastic distal segments of scapulae, Abnormal rib morphology, Micrognathia	OMIM:602196
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome	Abnormal rib morphology, Hemivertebrae, Abnormal form of the vertebral bodies, Short neck	ORPHA:2234
Pontine Tegmental Cap Dysplasia	Rib fusion, Hemivertebrae, Scoliosis	OMIM:614688
Proximal 16P11.2 Microdeletion Syndrome	Rib fusion, Abnormal vertebral morphology, Scoliosis, Micrognathia	ORPHA:261197
Lethal Congenital Contracture Syndrome Type 1	Micrognathia, Abnormal rib morphology, Abnormal form of the vertebral bodies, Short neck	ORPHA:1486
Hemifacial Hyperplasia	Hypoplasia of the maxilla, Dental malocclusion	OMIM:133900
Congenital Disorder Of Glycosylation, Type Iig	Thoracic scoliosis, Kyphoscoliosis, Short neck, Micrognathia, Rib fusion, Posterior rib gap, Vert...	OMIM:611209
Thoracic Dysostosis, Isolated	Pectus excavatum, Short ribs, Bell-shaped thorax	OMIM:187750
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies	Sprengel anomaly, Abnormality of the vertebral column, Abnormal rib morphology, Micrognathia	OMIM:601076
Mosaic Trisomy 14	Micrognathia, Abnormal rib morphology, Narrow chest, Short neck	ORPHA:1703
Atelosteogenesis, Type Iii	Cervical segmentation defect, Cervical kyphosis, Short neck, Micrognathia, Hypoplasia of the maxi...	OMIM:108721
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly	Lateral clavicle hook, Narrow chest, Short ribs, Horizontal ribs	OMIM:617405
Ophthalmoplegia, External, With Rib And Vertebral Anomalies	Missing ribs, Pectus excavatum, Pectus carinatum, Short ribs, Scoliosis	OMIM:618155
Metatropic Dysplasia	Relatively short spine, Kyphoscoliosis, Clavicular pseudarthrosis, Cupped ribs, Hypoplasia of the...	OMIM:156530
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1	Beaking of vertebral bodies, Vertebral fusion, Sacral dimple, Short neck, Pectus excavatum, Micro...	OMIM:213980
Achondrogenesis Type 1B	Micrognathia, Short neck, Short thorax, Abnormal rib morphology, Narrow chest	ORPHA:93298
Aicardi Syndrome	Prominence of the premaxilla, Block vertebrae, Missing ribs, Rib fusion, Supernumerary ribs, Scol...	ORPHA:50
Mucopolysaccharidosis Type 4	Abnormal dental enamel morphology, Hyperlordosis, Short neck, Kyphosis, Grayish enamel, Short tho...	ORPHA:582
Laryngotracheoesophageal Cleft Type 4	Abnormal rib morphology, Abnormal form of the vertebral bodies	ORPHA:93941
Cole-Carpenter Syndrome	Delayed eruption of teeth, Abnormal dental enamel morphology, Micrognathia, Kyphosis, Abnormal ri...	ORPHA:2050
Autosomal Recessive Multiple Pterygium Syndrome	Micrognathia, Pectus excavatum, Rib fusion, Abnormal sternum morphology, Vertebral segmentation d...	ORPHA:2990
Stickler Syndrome Type 1	Hypoplasia of the maxilla, Abnormal vertebral epiphysis morphology, Platyspondyly	ORPHA:90653
Mesomelic Dysplasia, Kantaputra Type	Vertebral segmentation defect, Abnormal rib morphology	ORPHA:1836
10Q22.3Q23.3 Microduplication Syndrome	Microretrognathia, Abnormal clavicle morphology, Abnormal rib morphology	ORPHA:276422
Axial Spondylometaphyseal Dysplasia	Aplasia/Hypoplasia of the ribs, Thoracic scoliosis, Aplasia/Hypoplasia of the vertebrae, Flaring ...	ORPHA:168549
Endosteal Hyperostosis, Autosomal Dominant	Clavicular sclerosis, Sclerotic vertebral body, Dental malocclusion	OMIM:144750
Aicardi Syndrome	Prominence of the premaxilla, Block vertebrae, Missing ribs, Hemivertebrae, Rib fusion, Supernume...	OMIM:304050
Microphthalmia, Syndromic 3	Vertebral fusion, Missing ribs, Rib fusion, Hemivertebrae, Supernumerary ribs, Butterfly vertebra...	OMIM:206900
Malan Syndrome	Mandibular prognathia, Hyperplasia of the premaxilla, Pectus excavatum, Scoliosis, Advanced erupt...	OMIM:614753
Mucopolysaccharidosis, Type Iva	Mandibular prognathia, Ovoid vertebral bodies, Short neck, Hyperlordosis, Hypoplasia of the odont...	OMIM:253000
Klippel-Feil Syndrome 1, Autosomal Dominant	Short neck, Abnormal rib morphology, Scoliosis, Cervical C2/C3 vertebral fusion, Sprengel anomaly...	OMIM:118100
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy	Ovoid vertebral bodies, Cupped ribs, Dental malocclusion, Platyspondyly, Scoliosis, Severe platys...	OMIM:608940
Brachytelephalangic Chondrodysplasia Punctata	Cervical kyphosis, Hypoplasia of the maxilla, Abnormality of the costochondral junction, Atlantoa...	ORPHA:79345
Septopreoptic Holoprosencephaly	Abnormal rib morphology, Abnormal vertebral morphology	ORPHA:280195
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly	Lateral clavicle hook, Bell-shaped thorax, Thoracic dysplasia, Narrow chest, Horizontal ribs	OMIM:615633
Multiple Pterygium Syndrome, Escobar Variant	Long clavicles, Thoracolumbar scoliosis, Down-sloping shoulders, Short neck, Micrognathia, Kyphos...	OMIM:265000
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness	Lumbar hyperlordosis, Cupped ribs, Irregular vertebral endplates, Platyspondyly, Scoliosis, Beaki...	OMIM:609616
Lujan-Fryns Syndrome	Pectus excavatum, Hypoplasia of the maxilla, Scoliosis, Micrognathia	ORPHA:776
Cog1-Cdg	Irregularity of vertebral bodies, Kyphoscoliosis, Short neck, Micrognathia, Rib fusion, Posterior...	ORPHA:263508
Craniodiaphyseal Dysplasia, Autosomal Dominant	Mandibular prognathia, Craniofacial hyperostosis, Thickened ribs, Craniofacial osteosclerosis	OMIM:122860
Spondyloepimetaphyseal Dysplasia, Irapa Type	Lumbar hyperlordosis, Hypoplastic sacrum, Enlargement of the costochondral junction, Pectus carin...	OMIM:271650
White Forelock With Malformations	Sprengel anomaly, Spina bifida occulta, Abnormal rib morphology	ORPHA:2475
Schneckenbecken Dysplasia	Hypoplastic scapulae, Anterior rib cupping, Ovoid vertebral bodies, Short neck, Lateral clavicle ...	OMIM:269250
Robinow Syndrome, Autosomal Recessive 1	Vertebral fusion, Hypoplastic sacrum, Thoracolumbar scoliosis, Short neck, Pectus excavatum, Miss...	OMIM:268310
Achondrogenesis Type 1A	Multiple rib fractures, Micrognathia, Short neck, Short thorax, Narrow chest	ORPHA:93299
Diastrophic Dysplasia	Abnormal clavicle morphology, Micrognathia, Kyphosis, Abnormal rib morphology, Abnormal form of t...	ORPHA:628
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome	Mandibular prognathia, Short neck, Micrognathia, Kyphosis, Abnormal rib morphology, Pectus carinatum	ORPHA:3082
Kbg Syndrome	Vertebral fusion, Short neck, Rib fusion, Vertebral arch anomaly, Cervical ribs, Thoracic kyphosis	OMIM:148050
Crouzon Syndrome-Acanthosis Nigricans Syndrome	Hypoplasia of the maxilla, Malar flattening, Abnormal sacrum morphology, Abnormal form of the ver...	ORPHA:93262
Three M Syndrome 2	Delayed eruption of teeth, Scapular winging, Lumbar hyperlordosis, Short neck, Hyperlordosis, Sho...	OMIM:612921
Imperforate Oropharynx-Costovertebral Anomalies Syndrome	Abnormal rib morphology, Hemivertebrae, Abnormal form of the vertebral bodies, Missing ribs	ORPHA:2759
Melnick-Needles Syndrome	Delayed eruption of teeth, Craniofacial hyperostosis, Micrognathia, Short thorax, Abnormal rib mo...	ORPHA:2484
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome	Abnormally ossified vertebrae, Abnormal rib morphology, Micrognathia	ORPHA:3035
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3	Short neck, Thin ribs, Irregular vertebral endplates, Platyspondyly, Scoliosis, Narrow vertebral ...	OMIM:618395
Grant Syndrome	Micrognathia, Abnormal rib morphology, Narrow chest, Sprengel anomaly, Abnormality of the glenoid...	ORPHA:2097
Mucopolysaccharidosis, Type X	Spatulate ribs, Hyperlordosis, Broad clavicles, Platyspondyly, Posterior scalloping of vertebral ...	OMIM:619698
Spondyloepimetaphyseal Dysplasia, Strudwick Type	Anterior rib cupping, Hyperlordosis, Hypoplasia of the odontoid process, Pectus carinatum, Platys...	OMIM:184250
Familial Osteodysplasia, Anderson Type	Mandibular prognathia, Failure of eruption of permanent teeth, Aplastic clavicle, Missing ribs, C...	ORPHA:2769
Osteogenesis Imperfecta, Type Xviii	Vertebral compression fracture, Micrognathia, Biconcave vertebral bodies, Thin ribs	OMIM:617952
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome	Sacral dimple, Retrognathia, Rib fusion	ORPHA:544488
Short Stature And Facioauriculothoracic Malformations	Abnormal odontoid process morphology, Short neck, Pectus excavatum, Pectus carinatum, Cervical ribs	OMIM:609654
Fibrochondrogenesis	Hypoplastic scapulae, Short neck, Abnormal rib morphology, Abnormal form of the vertebral bodies,...	ORPHA:2021
Dysosteosclerosis	Delayed eruption of teeth, Natal tooth, Sclerotic scapulae, Micrognathia, Increased intervertebra...	OMIM:224300
Osteogenesis Imperfecta, Type Iii	Micrognathia, Kyphosis, Thin ribs, Scoliosis, Biconcave vertebral bodies, Dentinogenesis imperfecta	OMIM:259420
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones	Hypoplasia of the maxilla, Abnormal rib cage morphology, Long thorax	OMIM:608154
Osteogenesis Imperfecta, Type Xvi	Microretrognathia, Multiple rib fractures, Beaded ribs, Platyspondyly, Narrow chest, Vertebral co...	OMIM:616229
Thanatophoric Dysplasia, Type Ii	Small abnormally formed scapulae, Wide-cupped costochondral junctions, Platyspondyly, Short ribs,...	OMIM:187601
3M Syndrome	Delayed eruption of teeth, Scapular winging, Abnormal dental enamel morphology, Short neck, Hyper...	ORPHA:2616
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type	Lumbar hyperlordosis, Ovoid vertebral bodies, Pectus excavatum, Platyspondyly, Posterior rib cupp...	OMIM:608728
Geroderma Osteodysplasticum	Mandibular prognathia, Kyphoscoliosis, Hypoplasia of the maxilla, Vertebral compression fracture,...	OMIM:231070
Jeune Syndrome	Abnormal clavicle morphology, Short thorax, Abnormal rib morphology, Abnormal sternum morphology,...	ORPHA:474
Cooper-Jabs Syndrome	Malar flattening, Abnormal rib morphology, Scoliosis, Missing ribs	ORPHA:1488
Kagami-Ogata Syndrome	Long clavicles, Kyphoscoliosis, Micrognathia, Hypoplasia of the maxilla, Thin ribs, Bell-shaped t...	OMIM:608149
Autosomal Recessive Robinow Syndrome	Sacral dimple, Short neck, Pectus excavatum, Kyphosis, Micrognathia, Supernumerary tooth, Rib fus...	ORPHA:1507
Wolf-Hirschhorn Syndrome	Rib segmentation abnormalities, Sacral dimple, Micrognathia, Kyphosis, Abnormal thorax morphology...	ORPHA:280
20P12.3 Microdeletion Syndrome	Hypoplasia of the maxilla, Malar flattening, Pectus carinatum	ORPHA:261295
Dysostosis, Stanescu Type	Abnormal dental enamel morphology, Hyperlordosis, Pectus excavatum, Kyphosis, Short neck, Hypopla...	ORPHA:1798
Holt-Oram Syndrome	Abnormal clavicle morphology, Down-sloping shoulders, Pectus excavatum, Kyphosis, Abnormal rib mo...	ORPHA:392
Spondyloepimetaphyseal Dysplasia, Irapa Type	Platyspondyly, Abnormal rib morphology, Pectus carinatum	ORPHA:93351
Robinow Syndrome	Fused thoracic vertebrae, Kyphoscoliosis, Missing ribs, Micrognathia, Persistence of primary teet...	ORPHA:97360
Cleidocranial Dysplasia	Mandibular prognathia, Delayed eruption of teeth, Hypoplastic scapulae, Sinusitis, Down-sloping s...	ORPHA:1452
Aarskog-Scott Syndrome	Delayed eruption of teeth, Short neck, Pectus excavatum, Hypoplasia of the maxilla, Abnormal vert...	ORPHA:915
Juberg-Hayward Syndrome	Abnormal rib morphology, Abnormal vertebral morphology, Scoliosis	ORPHA:2319
Acro-Renal-Mandibular Syndrome	Abnormal clavicle morphology, Hypoplastic scapulae, Short neck, Micrognathia, Kyphosis, Hemiverte...	ORPHA:958
Craniometadiaphyseal Dysplasia, Wormian Bone Type	Obtuse angle of mandible, Micrognathia, Vertebral arch anomaly, Broad ribs, Malar flattening	ORPHA:85184
Femoral-Facial Syndrome	Missing ribs, Micrognathia, Absent vertebra, Rib fusion, Hemivertebrae, Scoliosis, Sprengel anoma...	OMIM:134780
Achondrogenesis, Type Ii	Barrel-shaped chest, Absent vertebral body mineralization, Microretrognathia, Short ribs, Horizon...	OMIM:200610
Pycnodysostosis	Abnormal clavicle morphology, Obtuse angle of mandible, Delayed eruption of primary teeth, Hyperl...	ORPHA:763
Vertebral Hypersegmentation And Orofacial Anomalies	Scapular winging, Micrognathia, Pectus excavatum, Supernumerary ribs, Six lumbar vertebrae	OMIM:619122
Microcephalic Primordial Dwarfism, Toriello Type	Enamel hypoplasia, Abnormal rib morphology	ORPHA:2643
Osteogenesis Imperfecta, Type Ii	Beaded ribs, Thin ribs, Bell-shaped thorax, Platyspondyly, Thoracic hypoplasia	OMIM:166210
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	11 pairs of ribs, Platyspondyly, Thin ribs	OMIM:300863
Osteogenesis Imperfecta, Type X	Multiple rib fractures, Thoracic scoliosis, Micrognathia, Thin ribs, Platyspondyly, Narrow chest,...	OMIM:613848
Axial Mesodermal Dysplasia Spectrum	Short neck, Missing ribs, Micrognathia, Abnormal rib morphology, Abnormal form of the vertebral b...	ORPHA:1834
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type	Disc-like vertebral bodies, Ovoid vertebral bodies, Short neck, Thin ribs, Wafer-thin platyspondy...	OMIM:151210
Dyggve-Melchior-Clausen Disease	Barrel-shaped chest, Mandibular prognathia, Hypoplastic scapulae, Lumbar hyperlordosis, Flaring o...	OMIM:223800
Greenberg Dysplasia	Beaded ribs, Micrognathia, Hypoplasia of the maxilla, Hypoplastic vertebral bodies, Narrow chest,...	OMIM:215140
Multiple Pterygium Syndrome, X-Linked	Vertebral fusion, Micrognathia, Abnormal cervical curvature, Thin ribs	OMIM:312150
Thin Ribs-Tubular Bones-Dysmorphism Syndrome	Abnormal rib morphology	ORPHA:1506
Craniolenticulosutural Dysplasia	Delayed eruption of teeth, Hypoplasia of the maxilla, Carious teeth, Posterior wedging of vertebr...	ORPHA:50814
Mucopolysaccharidosis, Type Ivb	Mandibular prognathia, Ovoid vertebral bodies, Hyperlordosis, Grayish enamel, Hypoplasia of the o...	OMIM:253010
Cole-Carpenter Syndrome 2	Microretrognathia, Pectus excavatum, Kyphosis, Thin ribs, Platyspondyly, Dentinogenesis imperfecta	OMIM:616294
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome	Hyperlordosis, Craniofacial hyperostosis, Abnormal rib morphology, Pectus carinatum	ORPHA:3068
Mucopolysaccharidosis Type 6	Sinusitis, Ovoid vertebral bodies, Short neck, Kyphosis, Broad ribs	ORPHA:583
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Platyspondyly, Micrognathia, Thin ribs	ORPHA:163966
Mucopolysaccharidosis, Type Iiia	Thickened ribs, Ovoid thoracolumbar vertebrae, Scoliosis	OMIM:252900
Craniometadiaphyseal Dysplasia	Mandibular prognathia, Natal tooth, Carious teeth, Absent paranasal sinuses, Scoliosis, Broad rib...	OMIM:269300
Pallister-Hall Syndrome	Natal tooth, Rib fusion, Hemivertebrae	OMIM:146510
Metaphyseal Chondrodysplasia, Schmid Type	Lumbar hyperlordosis, Anterior rib cupping, Osteosclerosis of ribs, Irregular vertebral endplates...	ORPHA:174
Achondrogenesis, Type Ia	Barrel-shaped chest, Hypoplastic scapulae, Hypoplastic sacrum, Beaded ribs, Short neck, Short tho...	OMIM:200600
Multiple Pterygium Syndrome, Lethal Type	Vertebral fusion, Micrognathia, Abnormal cervical curvature, Thin ribs	OMIM:253290
Radio-Renal Syndrome	Micrognathia, Short neck, Abnormal rib morphology, Abnormal form of the vertebral bodies, Retrogn...	ORPHA:3015
Zttk Syndrome	Hypoplasia of the maxilla, Kyphosis, Rib fusion, Hemivertebrae, Cervical ribs, Scoliosis	OMIM:617140
Pseudohermaphroditism, Female, With Skeletal Anomalies	Hypoplasia of the maxilla, Short mandibular condyles	OMIM:264270
Thoracic Outlet Syndrome	Abnormal rib morphology	ORPHA:97330
Fibrochondrogenesis 1	Hypoplastic scapulae, Long clavicles, Anterior rib cupping, Short neck, Thin clavicles, Thin ribs...	OMIM:228520
Cardioacrofacial Dysplasia 1	Hypoplasia of the maxilla, Long thorax	OMIM:619142
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy	Anterior rib cupping, Kyphoscoliosis, Short neck, Hypoplasia of the odontoid process, Thin ribs, ...	OMIM:300232
Spondyloepimetaphyseal Dysplasia, Missouri Type	Platyspondyly, Pear-shaped vertebrae, Flared, irregular rib ends, Irregular sclerotic endplates	OMIM:602111
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities	Hypoplasia of the maxilla, Malar flattening, Abnormality of the vertebral column	OMIM:109120
Autosomal Recessive Distal Osteolysis Syndrome	Hypoplasia of the maxilla	ORPHA:2776
Renpenning Syndrome	Mandibular prognathia, Pectus excavatum, Abnormal rib morphology, Malar flattening, Sprengel anomaly	ORPHA:3242
Lethal Kniest-Like Dysplasia	Anterior rib cupping, Short neck, Hypoplastic vertebral bodies, Coronal cleft vertebrae, Platyspo...	ORPHA:2347
X-Linked Intellectual Disability, Sutherland-Haan Type	Mandibular prognathia, Hypoplasia of the maxilla	ORPHA:93950
Prune Belly Syndrome	Pectus excavatum, Vertebral segmentation defect, Abnormal rib morphology, Scoliosis	ORPHA:2970
Cohen Syndrome	Thoracic scoliosis, Lumbar hyperlordosis, Micrognathia, Hypoplasia of the maxilla, Macrodontia of...	OMIM:216550
Craniosynostosis, Herrmann-Opitz Type	Malar flattening, Abnormal rib morphology, Micrognathia	ORPHA:2145
Mucopolysaccharidosis, Type Iiic	Beaking of vertebral bodies, Thickened ribs, Ovoid thoracolumbar vertebrae, Kyphoscoliosis	OMIM:252930
Mucolipidosis Iii Alpha/Beta	Mandibular prognathia, Broad ribs, Short ribs, Scoliosis	OMIM:252600
Cleidocranial Dysplasia 2	Down-sloping shoulders, Aplastic clavicle, Delayed eruption of primary teeth, Hypoplasia of the m...	OMIM:620099
Phaver Syndrome	Abnormal rib morphology, Butterfly vertebrae, Abnormal form of the vertebral bodies	ORPHA:2876
Split-Hand/Foot Malformation 3	Microretrognathia, Hypoplasia of the maxilla	OMIM:246560
Cowden Syndrome 5	Micrognathia, Pectus excavatum, Kyphosis, Hypoplasia of the maxilla, Scoliosis	OMIM:615108
Mucopolysaccharidosis, Type Iiib	Thickened ribs, Ovoid thoracolumbar vertebrae	OMIM:252920
Dyggve-Melchior-Clausen Disease	Glenoid fossa hypoplasia, Short neck, Horizontal inferior border of scapula, Hypoplasia of the od...	ORPHA:239
Spondyloepimetaphyseal Dysplasia, Shohat Type	Hyperlordosis, Short neck, Platyspondyly, Squared-off platyspondyly, Scoliosis, Vertebral compres...	ORPHA:93352
Cat-Eye Syndrome	Abnormal rib morphology	ORPHA:195
Wolf-Hirschhorn Syndrome	Rib segmentation abnormalities, Vertebral fusion, Sacral dimple, Micrognathia, Kyphosis, Rib fusi...	OMIM:194190
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Multiple rib fractures, Short neck, Beaded ribs, Micrognathia, Platyspondyly, Short ribs, Thoraci...	OMIM:616897
Sclerosteosis 1	Mandibular prognathia, Sclerotic scapulae, Broad clavicles, Dental malocclusion, Facial palsy sec...	OMIM:269500
Alagille Syndrome	Micrognathia, Abnormal rib morphology, Abnormal form of the vertebral bodies, Vertebral segmentat...	ORPHA:52
Cowden Syndrome 6	Micrognathia, Pectus excavatum, Kyphosis, Hypoplasia of the maxilla, Scoliosis	OMIM:615109
Infantile-Onset X-Linked Spinal Muscular Atrophy	Cupped ribs, Short ribs, Kyphoscoliosis	ORPHA:1145
Tetraamelia-Multiple Malformations Syndrome	Abnormally ossified vertebrae, Micrognathia, Abnormal rib morphology, Missing ribs	ORPHA:3301
Acrodysostosis	Mandibular prognathia, Delayed eruption of teeth, Hypoplasia of the maxilla, Spinal canal stenosi...	ORPHA:950
Osteogenesis Imperfecta, Type Viii	Barrel-shaped chest, Kyphosis, Thin ribs, Platyspondyly, Scoliosis, Vertebral compression fractur...	OMIM:610915
Cenani-Lenz Syndrome	Abnormal dental enamel morphology, Abnormal rib morphology, Abnormal form of the vertebral bodies...	ORPHA:3258
Andersen Cardiodysrhythmic Periodic Paralysis	Scapular winging, Short mandibular rami, Micrognathia, Hypoplasia of the maxilla, Persistence of ...	OMIM:170390
Pde4D Haploinsufficiency Syndrome	Mandibular prognathia, Abnormal dental enamel morphology, Micrognathia, Hypoplasia of the maxilla...	ORPHA:439822
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome	Mandibular prognathia, Hypoplasia of the maxilla	ORPHA:397973
Crouzon Syndrome	Hypoplasia of the maxilla, Abnormal sacrum morphology	ORPHA:207
Shprintzen-Goldberg Syndrome	Missing ribs, Pectus excavatum, Micrognathia, Hypoplasia of the maxilla, Abnormal form of the ver...	ORPHA:2462
Holzgreve Syndrome	Abnormally ossified vertebrae, Abnormal rib morphology	ORPHA:2167
X-Linked Intellectual Disability, Porteous Type	Mandibular prognathia, Hypoplasia of the maxilla	ORPHA:93945
Gm1-Gangliosidosis, Type I	Thickened ribs, Short neck, Kyphosis, Hypoplastic vertebral bodies, Scoliosis, Beaking of vertebr...	OMIM:230500
Ossification Anomalies-Psychomotor Developmental Delay Syndrome	Micrognathia, Abnormal thorax morphology, Abnormal form of the vertebral bodies, Thin ribs, Narro...	ORPHA:73230
Basal Cell Nevus Syndrome 1	Mandibular prognathia, Vertebral fusion, Down-sloping shoulders, Kyphoscoliosis, Hemivertebrae, V...	OMIM:109400
Pyknoachondrogenesis	Craniofacial hyperostosis, Short thorax, Poorly ossified vertebrae, Enlarged thorax, Unossified s...	ORPHA:3003
Coffin-Lowry Syndrome	Delayed eruption of teeth, Craniofacial hyperostosis, Pectus excavatum, Kyphosis, Hypoplasia of t...	ORPHA:192
Aarskog-Scott Syndrome	Short neck, Pectus excavatum, Hypoplasia of the odontoid process, Cervical spine hypermobility, H...	OMIM:305400
Shprintzen-Goldberg Craniosynostosis Syndrome	Micrognathia, Lateral clavicle hook, Pectus excavatum, Hypoplasia of the maxilla, Dental malocclu...	OMIM:182212
Intellectual Developmental Disorder, Autosomal Recessive 68	Hypoplasia of the maxilla	OMIM:618302
Autosomal Dominant Popliteal Pterygium Syndrome	Fibrous syngnathia, Abnormal rib morphology, Scoliosis, Micrognathia	ORPHA:1300
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome	Vertebral segmentation defect, Abnormal rib morphology	ORPHA:1120
Agenesis Of The Corpus Callosum With Peripheral Neuropathy	Hypoplasia of the maxilla, Scoliosis	OMIM:218000
Trisomy 13	Kyphosis, Abnormal rib morphology, Narrow chest, Scoliosis, Malar flattening	ORPHA:3378
Mosaic Trisomy 8	Short neck, Micrognathia, Abnormal rib morphology, Vertebral segmentation defect, Narrow chest, S...	ORPHA:96061
Mohr Syndrome	Micrognathia, Pectus excavatum, Hypoplasia of the maxilla, Scoliosis, Agenesis of central incisor...	OMIM:252100
Intellectual Developmental Disorder, Autosomal Dominant 70	Mandibular prognathia, Micrognathia, Hypoplasia of the maxilla, Malar flattening, Retrognathia	OMIM:620157
Campomelia, Cumming Type	Abnormally ossified vertebrae, Abnormal thorax morphology, Abnormal rib morphology	ORPHA:1318
Hypomandibular Faciocranial Dysostosis	Hypoplasia of the maxilla, Malar flattening, Micrognathia	OMIM:241310
Weill-Marchesani Syndrome 1	Lumbar hyperlordosis, Hypoplasia of the maxilla, Spinal canal stenosis, Scoliosis, Broad ribs	OMIM:277600
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development	Retrognathia, Micrognathia, Thin ribs	OMIM:618265
Kenny-Caffey Syndrome, Type 1	Long clavicles, Carious teeth, Thin clavicles, Thin ribs, Calvarial osteosclerosis	OMIM:244460
Van Maldergem Syndrome 1	Sacral dimple, Micrognathia, Hypoplasia of the maxilla, Dental malocclusion, Narrow chest, Scolio...	OMIM:601390
Autosomal Recessive Kenny-Caffey Syndrome	Carious teeth, Thin clavicles, Calvarial osteosclerosis, Thin ribs	ORPHA:93324
Hypophosphatasia	Abnormal rib morphology, Narrow chest	ORPHA:436
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy	Hypoplasia of the maxilla, Thoracic kyphoscoliosis, Pectus carinatum	ORPHA:481152
X-Linked Myotubular Myopathy-Abnormal Genitalia Syndrome	Retrognathia, Thin ribs	ORPHA:456328
Spastic Paraplegia 16, X-Linked	Hypoplasia of the maxilla	OMIM:300266
Cleft Lip/Palate	Agenesis of lateral incisor, Hypoplasia of the maxilla, Dental malocclusion, Abnormality of denta...	ORPHA:199306
Multicentric Carpotarsal Osteolysis Syndrome	Hypoplasia of the maxilla, Micrognathia	OMIM:166300
Cantú Syndrome	Ovoid vertebral bodies, Short neck, Cuboid-shaped vertebral bodies, Platyspondyly, Narrow chest, ...	ORPHA:1517
Kyphomelic Dysplasia	Anterior rib cupping, Micrognathia, Lateral clavicle hook, Undulate ribs, Platyspondyly, Thoracic...	OMIM:211350
Craniofacial-Deafness-Hand Syndrome	Hypoplasia of the maxilla	ORPHA:1529
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome	Abnormal rib morphology	ORPHA:2772
Spondylometaphyseal Dysplasia, Algerian Type	Platyspondyly, Lumbar hyperlordosis, Anterior rib cupping, Kyphoscoliosis	OMIM:184253
Cortical Dysplasia, Complex, With Other Brain Malformations 15	Hypoplasia of the maxilla	OMIM:618737
Lymphangiectasia, Intestinal	Prominent floating ribs	OMIM:152800
Van Den Ende-Gupta Syndrome	Sacral dimple, Hypoplastic scapulae, Glenoid fossa hypoplasia, Micrognathia, Lateral clavicle hoo...	OMIM:600920
Baller-Gerold Syndrome	Micrognathia, Rib fusion, Scoliosis, Spina bifida occulta, Abnormal vertebral morphology	OMIM:218600
1P36 Deletion Syndrome	11 pairs of ribs, Kyphosis, Rib fusion, Spinal canal stenosis, Scoliosis, Bifid ribs	ORPHA:1606
Cowden Syndrome 1	Micrognathia, Pectus excavatum, Kyphosis, Hypoplasia of the maxilla, Scoliosis	OMIM:158350
Meier-Gorlin Syndrome 1	Absent sternal ossification, Micrognathia, Lateral clavicle hook, Hypoplasia of the maxilla, Flat...	OMIM:224690
Martsolf Syndrome 1	Thoracic scoliosis, Lumbar hyperlordosis, Micrognathia, Pectus excavatum, Hypoplasia of the maxil...	OMIM:212720
Cardiospondylocarpofacial Syndrome	Fused cervical vertebrae, Rib fusion, Herniation of intervertebral nuclei, Scoliosis	OMIM:157800
Mandibulofacial Dysostosis With Alopecia	Hypoplasia of the maxilla, Trismus, Delayed eruption of primary teeth, Micrognathia	OMIM:616367
Multiple Pterygium-Malignant Hyperthermia Syndrome	Pectus excavatum, Kyphosis, Abnormal rib morphology, Abnormal mandible morphology, Scoliosis, Adv...	ORPHA:2215
Bent Bone Dysplasia Syndrome 2	Short neck, Thin ribs, Coronal cleft vertebrae, Platyspondyly, Short sternum, Short ribs, Butterf...	OMIM:620076
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly	Thoracic hypoplasia, Lateral clavicle hook, Short ribs, Narrow chest, Horizontal ribs	OMIM:617895
Poland Syndrome	Aplasia/Hypoplasia of the sternum, Missing ribs, Short neck, Kyphosis, Abnormal rib morphology, H...	ORPHA:2911
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Lumbar hyperlordosis, Kyphoscoliosis, Hypoplasia of the maxilla, Rib fusion, Hemivertebrae, Cervi...	ORPHA:500150
Spondylometaphyseal Dysplasia, Sedaghatian Type	Platyspondyly, Abnormal rib morphology, Narrow chest, Abnormal scapula morphology	ORPHA:93317
Kdm5C-Related Syndromic X-Linked Intellectual Disability	Hypoplasia of the maxilla	ORPHA:85279
Frontometaphyseal Dysplasia 1	Delayed eruption of teeth, Scapular winging, Persistence of primary teeth, Absent frontal sinuses...	OMIM:305620
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness	Lumbar hyperlordosis, Cupped ribs, Flat glenoid fossa, Irregular chondrocostal junctions, Short r...	OMIM:250420
Premature Aging Syndrome, Penttinen Type	Delayed eruption of teeth, Micrognathia, Hypoplasia of the maxilla, Thin ribs, Cervical ribs, Sco...	OMIM:601812
Meier-Gorlin Syndrome 4	Lateral clavicle hook, Hypoplasia of the maxilla, Micrognathia	OMIM:613804
Acrodysostosis 1 With Or Without Hormone Resistance	Mandibular prognathia, Delayed eruption of teeth, Hypoplasia of the maxilla, Dental malocclusion,...	OMIM:101800
Carpenter Syndrome 1	Sacral dimple, Micrognathia, Short neck, Hypoplasia of the maxilla, Persistence of primary teeth,...	OMIM:201000
Congenital Myopathy 22B, Severe Fetal	Scapular winging, Thoracic scoliosis, Shoulder flexion contracture, Short neck, Pectus excavatum,...	OMIM:620369
Van Maldergem Syndrome 2	Sacral dimple, Micrognathia, Hypoplasia of the maxilla, Dental malocclusion, Narrow chest, Scolio...	OMIM:615546
Dislocation Of The Hip-Dysmorphism Syndrome	Malar flattening, Prominence of the premaxilla	ORPHA:2412
Lethal Congenital Contracture Syndrome 10	Thoracic scoliosis, Micrognathia, Short neck, Narrow chest, Broad ribs	OMIM:617022
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome	Broad ribs, Abnormal sternum morphology, Abnormal rib morphology, Short ribs	ORPHA:2519
Jackson-Weiss Syndrome	Mandibular prognathia, Hypoplasia of the maxilla	ORPHA:1540
Crouzon Syndrome	Mandibular prognathia, Hypoplasia of the maxilla, Abnormality of the cervical spine	OMIM:123500
Fibrous Dysplasia Of Bone	Abnormal clavicle morphology, Abnormal zygomatic bone morphology, Abnormal rib morphology, Abnorm...	ORPHA:249
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome	Pectus excavatum, Hypoplasia of the maxilla, Mandibular prognathia, Scoliosis	ORPHA:1101
Aspergillosis	Sinusitis, Abnormality of the vertebral column, Abnormal rib morphology	ORPHA:1163
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins	Posterior rib fusion, Retrognathia, Butterfly vertebrae, Micrognathia	OMIM:265380
Sacral Agenesis With Vertebral Anomalies	Absence of the sacrum, Vertebral clefting, Abnormal vertebral morphology	OMIM:615709
Osteogenesis Imperfecta	Abnormality of dental color, Cervical kyphosis, Micrognathia, Abnormal form of the vertebral bodi...	ORPHA:666
Myhre Syndrome	Mandibular prognathia, Craniofacial hyperostosis, Hypoplasia of the maxilla, Abnormal rib morphol...	ORPHA:2588
Melanocytic Nevus Syndrome, Congenital	Prominence of the premaxilla	OMIM:137550
Frontonasal Dysplasia 1	Hypoplasia of the maxilla, Hypoplastic frontal sinuses	OMIM:136760
Angelman Syndrome	Mandibular prognathia, Hypoplasia of the maxilla, Scoliosis	OMIM:105830
Camptodactyly Syndrome, Guadalajara Type 3	Spina bifida occulta, Abnormal rib morphology, Retrognathia, Short neck	ORPHA:488434
Cohen Syndrome	Micrognathia, Pectus excavatum, Kyphosis, Hypoplasia of the maxilla, Hypoplasia of the zygomatic ...	ORPHA:193
Frontorhiny	Hypoplasia of the maxilla, Hypoplastic frontal sinuses, Lumbar hyperlordosis, Scoliosis	ORPHA:391474
8Q22.1 Microdeletion Syndrome	Hypoplasia of the maxilla, Short neck	ORPHA:178303
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Broad ribs, Flaring of rib cage, Fused cervical vertebrae	OMIM:612852
Acrorenal-Mandibular Syndrome	Hypoplastic scapulae, Kyphoscoliosis, Missing ribs, Micrognathia, Hemivertebrae, Thin ribs, Narro...	OMIM:200980
3Mc Syndrome 2	Prominence of the premaxilla, Abnormality of the vertebral column, Abnormal vertebral morphology,...	OMIM:265050
Cerebrocostomandibular Syndrome	Rib gap, 10 pairs of ribs, 11 pairs of ribs, Anomalous rib insertion to vertebrae, Micrognathia, ...	OMIM:117650
Keipert Syndrome	Hypoplasia of the maxilla	ORPHA:2662
Mucopolysaccharidosis, Type Vi	Delayed eruption of teeth, Lumbar hyperlordosis, Ovoid vertebral bodies, Kyphoscoliosis, Anterior...	OMIM:253200
Chromosome 1P36 Deletion Syndrome, Distal	11 pairs of ribs, Rib fusion, Scoliosis, Bifid ribs, Malar flattening	OMIM:607872
Cartilage-Hair Hypoplasia	Abnormally ossified vertebrae, Biconvex vertebral bodies, Sacral dimple, Flaring of lower rib cag...	ORPHA:175
Vacterl/Vater Association	Vertebral segmentation defect, Abnormal intervertebral disk morphology, Abnormal rib morphology, ...	ORPHA:887
Methylmalonic Aciduria And Homocystinuria, Cblj Type	Bell-shaped thorax, Horizontal ribs, Micrognathia	OMIM:614857
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly	Thoracolumbar scoliosis, Ovoid vertebral bodies, Hyperlordosis, Horizontal ribs, Thoracic platysp...	OMIM:618019
Spondyloepimetaphyseal Dysplasia, X-Linked	Lumbar hyperlordosis, Hypoplasia of the maxilla, Hypoplasia of the odontoid process, Kyphosis, An...	OMIM:300106
X-Linked Hypophosphatemia	Odontodysplasia, Beaded ribs, Enlargement of the costochondral junction, Sacroiliac joint synovit...	ORPHA:89936
Apert Syndrome	Mandibular prognathia, Delayed eruption of teeth, Hypoplasia of the maxilla, Cervical C5/C6 verte...	ORPHA:87
Schwartz-Jampel Syndrome	Abnormally ossified vertebrae, Shoulder flexion contracture, Hyperlordosis, Pectus excavatum, Kyp...	ORPHA:800
Osteoglophonic Dysplasia	Mandibular prognathia, Delayed eruption of teeth, Hypoplastic scapulae, Short neck, Pectus excava...	OMIM:166250
Marshall-Smith Syndrome	Microretrognathia, Thoracic scoliosis, Prominence of the premaxilla, Large sternal ossification c...	OMIM:602535
Monosomy 9Q22.3	Delayed eruption of teeth, Short neck, Pectus excavatum, Kyphosis, Abnormal rib morphology, Abnor...	ORPHA:77301
Kagami-Ogata Syndrome	Kyphoscoliosis, Short neck, Micrognathia, Bell-shaped thorax, Coat hanger sign of ribs, Thoracic ...	ORPHA:254519
Mandibulofacial Dysostosis-Microcephaly Syndrome	Hypoplasia of the maxilla, Malar flattening, Micrognathia	ORPHA:79113
Hurler Syndrome	Abnormal clavicle morphology, Short neck, Abnormal rib morphology, Spinal canal stenosis, Scolios...	ORPHA:93473
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type	Anterior rib cupping, Short neck, Pectus excavatum, Hypoplasia of the odontoid process, C1-C2 sub...	OMIM:271665
Meier-Gorlin Syndrome 3	Microretrognathia, Absent sternal ossification, Micrognathia, Hypoplasia of the maxilla, Short th...	OMIM:613803
Antley-Bixler Syndrome	Hypoplasia of the zygomatic bone, Abnormal rib morphology, Narrow chest	ORPHA:83
Branchioskeletogenital Syndrome	Mandibular prognathia, Abnormality of the vertebral spinous processes, Thoracolumbar kyphoscolios...	ORPHA:1299
Nestor-Guillermo Progeria Syndrome	Microretrognathia, Micrognathia, Dental malocclusion, Thin ribs, Rib osteolysis, Progressive clav...	OMIM:614008
Otopalatodigital Syndrome Type 2	Micrognathia, Hypoplastic frontal sinuses, Abnormal rib morphology, Narrow chest, Scoliosis, Mala...	ORPHA:90652
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type	Pectus excavatum, Hypoplasia of the maxilla, Mandibular prognathia, Micrognathia	OMIM:300534
Oculodentodigital Dysplasia, Autosomal Recessive	Delayed eruption of teeth, Micrognathia, Hypoplasia of the maxilla, Dental malocclusion, Hypoplas...	OMIM:257850
Multicentric Osteolysis, Nodulosis, And Arthropathy	Delayed eruption of teeth, Kyphoscoliosis, Micrognathia, Hypoplasia of the maxilla, Vertebral com...	OMIM:259600
Lowry-Maclean Syndrome	Delayed eruption of primary teeth, Micrognathia, Hypoplasia of the maxilla, Talon cusp, Retrognathia	ORPHA:2409
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Mandibular prognathia, Hypoplastic scapulae, Long clavicles, Anterior rib cupping, Kyphoscoliosis...	ORPHA:96334
Myhre Syndrome	Mandibular prognathia, Vertebral fusion, Short neck, Hypoplasia of the maxilla, Enlarged vertebra...	OMIM:139210
Andersen-Tawil Syndrome	Abnormality of dental color, Persistence of primary teeth, Hypoplasia of the maxilla, Micrognathi...	ORPHA:37553
Saethre-Chotzen Syndrome	Hypoplasia of the maxilla, Scoliosis, Abnormal form of the vertebral bodies, Hyperlordosis	ORPHA:794
Ellis-Van Creveld Syndrome	Delayed eruption of teeth, Natal tooth, Pectus carinatum, Short ribs, Narrow chest, Horizontal ribs	OMIM:225500
Pallister-Hall Syndrome	Microretrognathia, Natal tooth, Rib fusion, Hemivertebrae	ORPHA:672
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome	Pectus excavatum, Malar flattening, Lumbar hemivertebrae, Thin ribs	ORPHA:2463
Ptosis-Upper Ocular Movement Limitation-Absence Of Lacrimal Punctum Syndrome	Microretrognathia, Hypoplasia of the maxilla	ORPHA:228396
Myotubular Myopathy With Abnormal Genital Development	Retrognathia, Thin ribs	OMIM:300219
Cleft Velum	Hypoplasia of the maxilla	ORPHA:99772
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Lateral clavicle hook, Pectus carinatum, Platyspondyly, Thoracic dysplasia, Short ribs, Narrow ch...	OMIM:263520
Hallermann-Streiff Syndrome	Natal tooth, Hyperlordosis, Pectus excavatum, Micrognathia, Supernumerary tooth, Dental malocclus...	OMIM:234100
Waardenburg Syndrome, Type 1	Mandibular prognathia, Sprengel anomaly, Supernumerary ribs, Supernumerary vertebrae	OMIM:193500
Acrocapitofemoral Dysplasia	Lumbar hyperlordosis, Ovoid vertebral bodies, Pectus excavatum, Cupped ribs, Pectus carinatum, Sh...	OMIM:607778
Trisomy 1Q	Microretrognathia, Short thorax, Abnormal rib morphology	ORPHA:261344
Weill-Marchesani Syndrome 2	Lumbar hyperlordosis, Hypoplasia of the maxilla, Spinal canal stenosis, Scoliosis, Broad ribs	OMIM:608328
7Q31 Microdeletion Syndrome	Hypoplasia of the maxilla, Scoliosis	ORPHA:251061
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type	Pectus excavatum, Hypoplasia of the maxilla, Micrognathia	OMIM:309520
Elsahy-Waters Syndrome	Mandibular prognathia, Delayed eruption of teeth, Pectus excavatum, Hypoplasia of the maxilla, Su...	OMIM:211380
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Thoracic hypoplasia, Lateral clavicle hook, Short ribs, Scoliosis, Horizontal ribs	OMIM:613091
Nasopalpebral Lipoma-Coloboma Syndrome	Hypoplasia of the maxilla	OMIM:167730
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Cupped ribs, Platyspondyly, Ovoid vertebral bodies, Scoliosis	ORPHA:85167
Stickler Syndrome	Abnormal dental enamel morphology, Micrognathia, Hypoplasia of the maxilla, Kyphosis, Spinal cana...	ORPHA:828
Nager Syndrome	Hypoplasia of the maxilla, Hypoplasia of the zygomatic bone, Micrognathia	ORPHA:245
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures	11 pairs of ribs, Ovoid vertebral bodies, Kyphoscoliosis, Short neck, Micrognathia, Cupped ribs, ...	OMIM:271640
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Natal tooth, Short neck, Lateral clavicle hook, Micrognathia, Long thorax, Narrow chest, Short ri...	OMIM:617925
Osteogenesis Imperfecta, Type Vii	Multiple rib fractures, Pectus excavatum, Narrow chest, Scoliosis, Vertebral compression fracture...	OMIM:610682
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation	Coat hanger sign of ribs, Thoracic hypoplasia	ORPHA:254534
Microcephaly-Capillary Malformation Syndrome	Hypoplasia of the maxilla	OMIM:614261
Osteopathia Striata With Cranial Sclerosis	Natal tooth, Paranasal sinus hypoplasia, Micrognathia, Pectus excavatum, Craniofacial osteosclero...	OMIM:300373
Mucopolysaccharidosis, Type Iiid	Thoracic scoliosis, Thickened ribs, Pilonidal sinus, Short neck, Ovoid thoracolumbar vertebrae, H...	OMIM:252940
Cerebrofacioarticular Syndrome	Hypoplasia of the maxilla, Micrognathia, Caudal appendage	ORPHA:314679
Oculocerebrocutaneous Syndrome	Abnormal rib morphology, Missing ribs	ORPHA:1647
Short-Rib Thoracic Dysplasia 12	Natal tooth, Hypoplastic scapulae, Short neck, Short thorax, Thoracic dysplasia, Short ribs, Narr...	OMIM:269860
Occipital Horn Syndrome	Broad clavicles, Pectus excavatum, Kyphosis, Pectus carinatum, Platyspondyly, Narrow chest, Short...	OMIM:304150
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures	Thin ribs	OMIM:614833
Marshall Syndrome	Micrognathia, Hypoplasia of the maxilla, Hypoplastic frontal sinuses, Hypoplasia of the zygomatic...	ORPHA:560
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion	Pectus excavatum, Prominent sternum, Coat hanger sign of ribs, Retrognathia, Thoracic hypoplasia	ORPHA:254528
Distal Limb Deficiencies-Micrognathia Syndrome	Hypoplasia of the maxilla, Microretrognathia	ORPHA:1307
Eiken Syndrome	Persistence of primary teeth, Eruption failure, Multiple unerupted teeth, Multiple impacted teeth...	OMIM:600002
Peroxisome Biogenesis Disorder 12A (Zellweger)	Prominence of the premaxilla	OMIM:614886
Lenz-Majewski Hyperostotic Dwarfism	Mandibular prognathia, Broad clavicles, Micrognathia, Hemivertebrae, Broad ribs, Enamel hypoplasi...	OMIM:151050
Acrofacial Dysostosis, Cincinnati Type	Hypoplasia of the maxilla, Retrognathia, Aplastic zygomatic arch, Micrognathia	OMIM:616462
Spondylometaphyseal Dysplasia, Sedaghatian Type	11 pairs of ribs, Short neck, Cupped ribs, Horizontal inferior border of scapula, Platyspondyly, ...	OMIM:250220
Monosomy 9P	Micrognathia, Short neck, Abnormal rib morphology, Abnormality of the vertebral column, Scoliosis...	ORPHA:261112
Axenfeld-Rieger Syndrome, Type 2	Mandibular prognathia, Hypoplasia of the maxilla	OMIM:601499
Ear-Patella-Short Stature Syndrome	Aplastic clavicle, Micrognathia, Hypoplasia of the maxilla, Abnormal rib morphology, Mandibular a...	ORPHA:2554
Temtamy Preaxial Brachydactyly Syndrome	Hypoplasia of the maxilla, Talon cusp, Micrognathia	ORPHA:363417
Recon Progeroid Syndrome	Prominence of the premaxilla, Delayed eruption of permanent teeth	OMIM:620370
Treacher-Collins Syndrome	Abnormal dental enamel morphology, Micrognathia, Hypoplasia of the maxilla, Abnormality of the ve...	ORPHA:861
Severe Congenital Nemaline Myopathy	Abnormal thorax morphology, Thin ribs	ORPHA:171430
Campomelic Dysplasia	11 pairs of ribs, Poorly ossified cervical vertebrae, Thoracic scoliosis, Absent sternal ossifica...	OMIM:114290
Stuve-Wiedemann Syndrome 1	Ovoid vertebral bodies, Micrognathia, Short neck, Carious teeth, Thin ribs, Scoliosis, Malar flat...	OMIM:601559
Craniofacial-Deafness-Hand Syndrome	Hypoplasia of the maxilla, Malar flattening	OMIM:122880
Distal Xq28 Microduplication Syndrome	Hypoplasia of the maxilla	ORPHA:293939
Pfeiffer Syndrome	Mandibular prognathia, Hypoplasia of the maxilla	OMIM:101600
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Microretrognathia, Natal tooth, Hypoplastic facial bones, Bell-shaped thorax, Short ribs, Narrow ...	OMIM:616300
Lethal Congenital Contracture Syndrome 5	Thin ribs	OMIM:615368
Axenfeld-Rieger Syndrome	Hypoplasia of the maxilla	ORPHA:782
Hyperparathyroidism, Transient Neonatal	Undulate ribs, Thin ribs, Short ribs, Narrow chest, Fractured rib	OMIM:618188
Ulbright-Hodes Syndrome	Short neck, Micrognathia, Abnormal rib morphology, Ovoid thoracolumbar vertebrae, Thin ribs, Shor...	ORPHA:3404
Alpha-Mannosidosis, Infantile Form	Mandibular prognathia, Thickened ribs, Short neck, Pectus excavatum, Pectus carinatum, Platyspond...	ORPHA:309282
Goldberg-Shprintzen Syndrome	Hypoplasia of the maxilla, Short neck	OMIM:609460
Nablus Mask-Like Facial Syndrome	Hypoplasia of the maxilla, Retrognathia, Short neck	OMIM:608156
Rapp-Hodgkin Syndrome	Hypoplasia of the maxilla, Enamel hypoplasia, Taurodontia, Carious teeth	OMIM:129400
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome	Mandibular prognathia, Hypoplasia of the maxilla	ORPHA:3044
Autosomal Dominant Centronuclear Myopathy	Thin ribs	ORPHA:169189
Mucopolysaccharidosis Type 3	Abnormal clavicle morphology, Craniofacial hyperostosis, Abnormal rib morphology, Abnormal form o...	ORPHA:581
Short-Rib Thoracic Dysplasia 15 With Polydactyly	Supernumerary tooth, Aplasia of the epiglottis, Short ribs, Narrow chest, Short clavicles, Horizo...	OMIM:617088
Simpson-Golabi-Behmel Syndrome	Mandibular prognathia, Vertebral fusion, Short neck, Pectus excavatum, Abnormal rib morphology, V...	ORPHA:373
Smith-Lemli-Opitz Syndrome	Abnormal dental enamel morphology, Short neck, Micrognathia, Kyphosis, Supernumerary tooth, Abnor...	ORPHA:818
Microphthalmia With Limb Anomalies	Hypoplasia of the maxilla, Hypoplasia of the premaxilla, Abnormal form of the vertebral bodies, M...	ORPHA:1106
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate	Hypoplasia of the maxilla	OMIM:106260
Dyskeratosis Congenita	Hypoplasia of the maxilla, Taurodontia, Carious teeth, Scoliosis	ORPHA:1775
Pseudo-Torch Syndrome 2	Thin ribs	OMIM:617397
Gorlin-Chaudhry-Moss Syndrome	Hypoplasia of the maxilla	ORPHA:2095
Bartsocas-Papas Syndrome 1	Hypoplasia of the maxilla, Hypoplastic scapulae, Micrognathia, Short neck	OMIM:263650
Meier-Gorlin Syndrome 5	Hypoplasia of the maxilla, Micrognathia	OMIM:613805
Xylt1-Cdg	Broad ribs, Short clavicles	ORPHA:370930
46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome	Mandibular condyle hypoplasia, Hypoplasia of the premaxilla, Micrognathia	ORPHA:2975
Oculocerebrorenal Syndrome Of Lowe	Mandibular prognathia, Delayed eruption of teeth, Abnormal dental enamel morphology, Micrognathia...	ORPHA:534
Floating-Harbor Syndrome	11 pairs of ribs, Kyphoscoliosis, Short neck, Hypoplasia of the maxilla, Persistence of primary t...	ORPHA:2044
Nasopalpebral Lipoma-Coloboma Syndrome	Hypoplasia of the maxilla	ORPHA:2399
Schinzel-Giedion Midface Retraction Syndrome	Sacrococcygeal teratoma, Long clavicles, Short neck, Hypoplasia of first ribs, Short sternum, Bro...	OMIM:269150
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1	Progressive congenital scoliosis, Platyspondyly, Kyphoscoliosis, Thin ribs	OMIM:225400
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Long clavicles, Micrognathia, Cleft vertebral arch, Thin ribs, Fused cervical vertebrae, Retrogna...	ORPHA:83617
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Lateral clavicle hook, Thoracic dysplasia, Short ribs, Narrow chest, Horizontal ribs	OMIM:208500
Gracile Bone Dysplasia	Thin ribs	OMIM:602361
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies	Broad ribs, Malar flattening, Hyperlordosis	OMIM:301066
Rubinstein-Taybi Syndrome 1	Micrognathia, Pectus excavatum, Hypoplasia of the maxilla, Talon cusp, Dental malocclusion, Retro...	OMIM:180849
Craniotubular Dysplasia, Ikegawa Type	Increased intervertebral space, Broad ribs, Platyspondyly	OMIM:619727
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Hypoplastic scapulae, Abnormal rib morphology, Narrow chest, Scoliosis, Abnormal vertebral morpho...	ORPHA:95699
Cutis Laxa, Autosomal Recessive, Type Ib	Pectus excavatum, Prominence of the premaxilla, Micrognathia	OMIM:614437
Craniofacial Microsomia 1	Block vertebrae, Micrognathia, Hypoplasia of the maxilla, Hemivertebrae, Cervical ribs, Scoliosis...	OMIM:164210
Vater/Vacterl Association	Abnormal sternum morphology, Abnormal rib morphology, Abnormal vertebral morphology, Scoliosis	OMIM:192350
Barber-Say Syndrome	Mandibular prognathia, Delayed eruption of teeth, Micrognathia, Hypoplasia of the maxilla, Dental...	OMIM:209885
Dextrocardia	Abnormal rib morphology	ORPHA:1666
Cranioectodermal Dysplasia 2	Short neck, Pectus excavatum, Micrognathia, Short ribs, Narrow chest, Retrognathia, Horizontal ribs	OMIM:613610
Hypohidrotic Ectodermal Dysplasia	Hypoplasia of the maxilla, Sinusitis	ORPHA:238468
Schinzel-Giedion Syndrome	Delayed eruption of teeth, Abnormal clavicle morphology, Sacrococcygeal teratoma, Kyphoscoliosis,...	ORPHA:798
Restrictive Dermopathy	Thoracic kyphoscoliosis, Aplasia/Hypoplasia of the clavicles, Natal tooth, Micrognathia, Thin cla...	ORPHA:1662
Trisomy 18	Microretrognathia, Abnormal rib morphology	ORPHA:3380
Hereditary Acrokeratotic Poikiloderma	Trismus, Abnormal rib morphology	ORPHA:2907
Alagille Syndrome 1	Abnormal rib morphology, Hemivertebrae, Butterfly vertebral arch	OMIM:118450
Cutis Laxa, Autosomal Recessive, Type Iic	Mandibular prognathia, Hypoplasia of the maxilla, Malar flattening, Kyphoscoliosis	OMIM:617402
Fryns Syndrome	Microretrognathia, Short neck, Thin ribs, Broad ribs, Thoracic hypoplasia	OMIM:229850
Ulna And Fibula, Absence Of, With Severe Limb Deficiency	Barrel-shaped chest, Pilonidal sinus, Broad clavicles, Congenital pseudoarthrosis of the clavicle...	OMIM:276820
Holoprosencephaly 9	Hypoplasia of the premaxilla, Hypoplasia of the maxilla, Agenesis of incisor, Dental malocclusion...	OMIM:610829
Primrose Syndrome	Pectus excavatum, Kyphosis, Hypoplasia of the maxilla, Irregular vertebral endplates, Posterior s...	OMIM:259050
Charge Syndrome	Delayed eruption of teeth, Abnormal rib morphology, Hemivertebrae, Hypoplasia of the zygomatic bo...	ORPHA:138
Mucopolysaccharidosis Type 2, Severe Form	Temporomandibular joint ankylosis, Thickened ribs, Abnormal vertebral morphology, Spinal canal st...	ORPHA:217085
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Micrognathia, Pectus excavatum, Short neck, Undulate ribs, Short clavicles	OMIM:609945
Mucopolysaccharidosis Type 2, Attenuated Form	Temporomandibular joint ankylosis, Thickened ribs, Abnormal vertebral morphology, Spinal canal st...	ORPHA:217093
Osteopetrosis With Renal Tubular Acidosis	Persistence of primary teeth, Pectus excavatum, Micrognathia, Prominence of the zygomatic bone, R...	ORPHA:2785
Distal Deletion 19P	Hypoplasia of the maxilla	ORPHA:96129
Peters-Plus Syndrome	Short neck, Pectus excavatum, Micrognathia, Hypoplasia of the maxilla, Hemivertebrae, Agenesis of...	OMIM:261540
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3	Hypoplasia of the maxilla, Malar flattening, Hypoplastic sacrum, Carious teeth	OMIM:604292
Fetal Akinesia Deformation Sequence 1	Micrognathia, Short neck, Thoracic hypoplasia, Thin ribs	OMIM:208150
Kindler Epidermolysis Bullosa	Carious teeth, Abnormal rib morphology, Abnormal dental enamel morphology	ORPHA:2908
Autosomal Recessive Malignant Osteopetrosis	Delayed eruption of teeth, Abnormal rib morphology, Narrow chest	ORPHA:667
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked	Hypoplasia of the maxilla, Taurodontia	OMIM:305100
Wiedemann-Rautenstrauch Syndrome	Delayed eruption of teeth, Natal tooth, Short neck, Micrognathia, Hypoplastic facial bones, Thin ...	OMIM:264090
Pagod Syndrome	Abnormal clavicle morphology, Abnormal rib morphology	ORPHA:991
Mandibuloacral Dysplasia Progeroid Syndrome	Pectus excavatum, Micrognathia, Supernumerary ribs, Thin ribs	OMIM:619127
Coccidioidomycosis	Broad ribs, Abnormality of the vertebral column	ORPHA:228123
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome	Hypoplasia of the maxilla, Aplasia/Hypoplasia of the frontal sinuses, Hypoplasia of the frontal bone	ORPHA:306542
Ablepharon Macrostomia Syndrome	Hypoplasia of the maxilla, Hypoplasia of the zygomatic bone	ORPHA:920
Singleton-Merten Syndrome 1	Hypoplasia of the maxilla, Carious teeth, Eruption failure, Scoliosis, Hypoplasia of the tooth germ	OMIM:182250
Charge Syndrome	Down-sloping shoulders, Micrognathia, Abnormal rib morphology, Hemivertebrae, Scoliosis, Malar fl...	OMIM:214800
Osteopetrosis, Autosomal Recessive 7	Multiple rib fractures	OMIM:612301
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1	Hypoplasia of the maxilla, Malar flattening, Carious teeth	OMIM:129900
Craniosynostosis And Dental Anomalies	Mandibular prognathia, Delayed eruption of teeth, Hypoplasia of the maxilla, Supernumerary tooth,...	OMIM:614188
Townes-Brocks Syndrome	Abnormal rib morphology, Abnormal vertebral morphology	ORPHA:857
Saethre-Chotzen Syndrome	Hypoplasia of the maxilla, Malar flattening, Cleft of chin	OMIM:101400
Holoprosencephaly 2	Malar flattening, Aplasia of the premaxilla, Scoliosis	OMIM:157170
Axenfeld-Rieger Syndrome, Type 1	Hypoplasia of the maxilla	OMIM:180500

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 Dcaf15

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 Dcaf15.

No publications found that use IMPC mice or data for Dcaf15.

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

MGI Allele	Allele Type	Produced
Dcaf15^{tm1e(EUCOMM)Hmgu}	Targeted, non-conditional allele	ES Cells
Dcaf15^{tm1a(EUCOMM)Hmgu}	KO first allele (reporter-tagged insertion with conditional potential)	Mice, Targeting vectors, ES Cells

Sequence

Guides

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

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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Gene: Dcaf15 MGI:2684420

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

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Human diseases caused by Dcaf15 mutations

Histopathology

IMPC related publications

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Access Data Release 20.1 Data