Not currently registered for phenotyping at IMPC

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

Gene Summary

centrosomal protein 57
4931428M20Rik,  4921510P06Rik,  Tsp57,  3110002L15Rik

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Not Significant
Not tested


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 Cep57 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.

The table below shows human diseases associated to Cep57 by orthology or direct annotation.

Disease Similarity of
Matching phenotypes Source
Mosaic Variegated Aneuploidy Syndrome
Abnormal lung lobation, Myelodysplasia, Neoplasm, Nephroblastoma, Stomach cancer, Rhabdomyosarcom... ORPHA:1052
Mosaic Variegated Aneuploidy Syndrome 2
Craniosynostosis, Rhizomelia, Micrognathia OMIM:614114

The table below shows human diseases predicted to be associated to Cep57 by phenotypic similarity.

Disease Similarity of
Matching phenotypes Source
Spinal Dysplasia, Anhalt Type
Narrow anterio-posterior vertebral body diameter, Osteoarthritis of the small joints of the hand,... OMIM:601344
Spondyloepimetaphyseal Dysplasia, Shohat Type
Vertebral hypoplasia, Platyspondyly, Joint laxity, Central vertebral hypoplasia, Limb undergrowth... OMIM:602557
Cervical Vertebral Dysplasia
Cervical vertebral facet hypoplasia, Cervical vertebral dysplasia, Anterior atlanto-occipital dis... OMIM:118005
Vertebral Hypoplasia With Lumbar Kyphosis
Vertebral hypoplasia, Lumbar kyphosis OMIM:192900
Holoprosencephaly, Semilobar, With Craniosynostosis
Hypoplastic vertebral bodies, Lambdoidal craniosynostosis, Coronal craniosynostosis, Short distal... OMIM:601370
Odontoid Hypoplasia
Atlantoaxial instability, Cervical instability, Dystopic os odontoideum, Hypoplasia of the odonto... OMIM:613628
Platyspondyly, Craniofacial hyperostosis, Recurrent fractures, Irregular vertebral endplates, Inc... ORPHA:1782
Sacral Agenesis With Vertebral Anomalies
Absence of the sacrum, Abnormal vertebral morphology OMIM:615709
Fibrodysplasia Ossificans Progressiva
Scoliosis, Small cervical vertebral bodies, Short hallux, Short 1st metacarpal, Ectopic ossificat... OMIM:135100
Familial Scheuermann Disease
Kyphosis, Abnormal form of the vertebral bodies ORPHA:3135
Spondylometaphyseal Dysplasia, Corner Fracture Type
Scoliosis, Ovoid vertebral bodies, Hyperconvex vertebral body endplates, Short femoral neck, Hypo... OMIM:184255
Gurrieri Syndrome
Decreased anterioposterior diameter of lumbar vertebral bodies OMIM:601187
Richieri Costa-Da Silva Syndrome
Generalized bone demineralization, Beaking of vertebral bodies, Decreased anterioposterior diamet... ORPHA:3101
Scoliosis, Sclerotic vertebral body, Abnormal form of the vertebral bodies, Kyphosis, Abnormal co... ORPHA:2777
Greenberg Dysplasia
Epiphyseal stippling, Abnormal pelvis bone ossification, Multiple prenatal fractures, Micrognathi... OMIM:215140
Metatropic Dysplasia
Scoliosis, Camptodactyly of finger, Hypoplastic cervical vertebrae, Abnormal enchondral ossificat... ORPHA:2635
Platyspondyly, Sclerosis of hand bone, Absent frontal sinuses, Short sternum, Irregular vertebral... OMIM:224300
Cervical Vertebrae, Agenesis Of
Cervical vertebral agenesis OMIM:214290
Spondyloepimetaphyseal Dysplasia, Shohat Type
Scoliosis, Hyperlordosis, Platyspondyly, Generalized bone demineralization, Joint laxity, Abnorma... ORPHA:93352
Dental Anomalies And Short Stature
Herniation of intervertebral nuclei, Platyspondyly, Intervertebral space narrowing, Narrow verteb... OMIM:601216
Osteoarthritis With Mild Chondrodysplasia
Platyspondyly, Beaking of vertebral bodies, Hip osteoarthritis, Irregular vertebral endplates, Sc... OMIM:604864
Infantile Liver Failure Syndrome 3
Beaking of vertebral bodies, Platyspondyly, Hypoplastic vertebral bodies, Death in childhood OMIM:618641
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome
Scoliosis, Abnormal form of the vertebral bodies, Kyphosis, Hemivertebrae, Vertebral fusion, Hypo... ORPHA:2916
Gm1-Gangliosidosis, Type I
Scoliosis, Short neck, Beaking of vertebral bodies, Kyphosis, Death in infancy, Joint stiffness, ... OMIM:230500
Acromesomelic Dysplasia, Maroteaux Type
Scoliosis, Hyperlordosis, Abnormal form of the vertebral bodies, Beaking of vertebral bodies, Joi... ORPHA:40
Patterson Pseudoleprechaunism Syndrome
Small cervical vertebral bodies, Hypoplasia of the odontoid process, Irregular sclerotic endplate... OMIM:169170
Spondyloepiphyseal Dysplasia, Stanescu Type
Platyspondyly, Beaking of vertebral bodies, Joint stiffness, Kyphoscoliosis, Stiff neck OMIM:616583
Diastrophic Dysplasia
Costal cartilage calcification, Hypoplastic cervical vertebrae, Short finger, Cervical kyphosis, ... OMIM:222600
Tumor Predisposition Syndrome
Uveal melanoma, Cutaneous melanoma, Meningioma, Renal cell carcinoma, Lung adenocarcinoma OMIM:614327
Lethal Kniest-Like Dysplasia
Platyspondyly, Short neck, Wide anterior fontanel, Coronal cleft vertebrae, Mesomelic/rhizomelic ... ORPHA:2347
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type
Scoliosis, Platyspondyly, Decreased hip abduction, Thoracic kyphosis, Irregular vertebral endplat... OMIM:609223
Brachyolmia Type 1, Hobaek Type
Scoliosis, Kyphosis, Back pain, Osteopenia, Intervertebral space narrowing, Squared-off platyspon... OMIM:271530
Polydactyly, Postaxial, With Dental And Vertebral Anomalies
Tarsal synostosis, Short middle phalanx of finger, Hemivertebrae, Vertebral fusion, Spinal canal ... OMIM:263540
Spondylocamptodactyly Syndrome
Scoliosis, Platyspondyly, Camptodactyly of finger ORPHA:3180
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Wide anterior fontanel, Increased bone mineral density, Thin bony cortex, Osteopenia, Micrognathi... ORPHA:85184
Caudal Regression Sequence
Scoliosis, Joint stiffness, Abnormal vertebral segmentation and fusion, Hypoplastic vertebral bod... ORPHA:3027
Lung Cancer
Alveolar cell carcinoma, Lung adenocarcinoma, Non-small cell lung carcinoma OMIM:211980
Brachytelephalangic Chondrodysplasia Punctata
Vertebral hypoplasia, Atlantoaxial instability, Cervical vertebral dysplasia, Cervical spinal can... ORPHA:79345
Scoliosis, Short neck, Rhizomelia, Severe platyspondyly, Short foot, Hypoplastic vertebral bodies... OMIM:258480
Acrodysostosis 1 With Or Without Hormone Resistance
Scoliosis, Epiphyseal stippling, Short metatarsal, Neonatal epiphyseal stippling, Narrow vertebra... OMIM:101800
Greenberg Dysplasia
Platyspondyly, Abnormal bone ossification, Abnormal form of the vertebral bodies, Rhizomelia, Ant... ORPHA:1426
Holoprosencephaly-Craniosynostosis Syndrome
Craniosynostosis, Hypoplastic vertebral bodies, Short distal phalanx of finger ORPHA:2163
Abnormally ossified vertebrae, Hypoplastic vertebral bodies, Joint stiffness ORPHA:2746
Kniest-Like Dysplasia, Lethal
Platyspondyly, Short neck, Wide anterior fontanel, Coronal cleft vertebrae, Rhizomelia, Short rib... OMIM:245190
Spondyloepiphyseal Dysplasia Tarda, Kohn Type
Platyspondyly, Restricted large joint movement, Abnormal vertebral morphology ORPHA:163665
Autosomal Dominant Brachyolmia
Platyspondyly, Increased vertebral height, Kyphoscoliosis ORPHA:93304
Epiphyseal Dysplasia, Multiple, 7
Platyspondyly, Short femoral neck, Advanced ossification of carpal bones, Vertebral wedging OMIM:617719
Second Metatarsal-Metacarpal Syndrome
Platyspondyly, Synostosis of carpals/tarsals OMIM:269630
Kbg Syndrome
Vertebral fusion, Thoracic kyphosis, Vertebral arch anomaly OMIM:148050
Spondylocostal Dysostosis 3, Autosomal Recessive
Scoliosis, Supernumerary vertebral ossification centers, Kyphosis, Vertebral segmentation defect,... OMIM:609813
Brachyolmia, Maroteaux Type
Scoliosis, Platyspondyly, Abnormal form of the vertebral bodies ORPHA:93302
Spondyloepiphyseal Dysplasia Tarda With Mental Retardation
Anterior beaking of lumbar vertebrae, Platyspondyly OMIM:271620
Brachyolmia Type 1, Toledo Type
Back pain, Irregular vertebral endplates, Intervertebral space narrowing, Precocious costochondra... OMIM:271630
Endosteal Hyperostosis, Worth Type
Sclerotic vertebral body, Abnormal form of the vertebral bodies, Craniofacial hyperostosis, Gener... ORPHA:2790
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2
Scoliosis, Posterior scalloping of vertebral bodies, Joint laxity, Carpal bone hypoplasia, Irregu... OMIM:603546
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
Scoliosis, Hyperlordosis, Ovoid vertebral bodies, Kyphosis, Recurrent fractures, Hypoplasia of th... ORPHA:93315
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density
Hypoplasia of the radius, Lumbar platyspondyly, Short femur, Absent ossification of cervical vert... OMIM:601376
Metatropic Dysplasia
Scoliosis, Platyspondyly, Arthrogryposis multiplex congenita, Anisospondyly, Long coccyx, Abnorma... OMIM:156530
Acromesomelic Dysplasia, Maroteaux Type
Thoracolumbar kyphosis, Limited elbow extension, Hypoplasia of the radius, Short metatarsal, Join... OMIM:602875
Li-Fraumeni Syndrome
Prostate cancer, Prostate neoplasm, Soft tissue sarcoma, Lung adenocarcinoma, Nephroblastoma, Ost... OMIM:151623
Congenital Amegakaryocytic Thrombocytopenia
Scoliosis, Short neck, Decreased skull ossification, Abnormal form of the vertebral bodies ORPHA:3319
Osteogenesis Imperfecta
Scoliosis, Joint hypermobility, Increased susceptibility to fractures, Micrognathia, Osteoarthrit... ORPHA:666
Brachydactylous Dwarfism, Mseleni Type
Platyspondyly, Osteoarthritis of the elbow, Stiff shoulders, Hip osteoarthritis, Knee osteoarthri... ORPHA:2619
Spondyloepimetaphyseal Dysplasia, Di Rocco Type
Platyspondyly, Delayed ossification of carpal bones OMIM:617974
Diastrophic Dwarfism
Scoliosis, Camptodactyly of finger, Hypoplastic cervical vertebrae, Abnormal form of the vertebra... ORPHA:628
Spondylometaphyseal Dysplasia, A4 Type
Platyspondyly, Limitation of joint mobility, Short palm, Micromelia ORPHA:168555
Craniofaciofrontodigital Syndrome
Joint hypermobility, Hypoplastic vertebral bodies, Short neck OMIM:114620
Pyle Disease
Scoliosis, Platyspondyly, Limited elbow extension, Hypoplastic frontal sinuses, Reduced bone mine... OMIM:265900
Schneckenbecken Dysplasia
Short neck, Advanced tarsal ossification, Abnormal form of the vertebral bodies, Hypoplastic scap... ORPHA:3144
Anauxetic Dysplasia 1
Platyspondyly, Rhizomelia, Short finger, Delayed ossification of carpal bones, Cervical subluxati... OMIM:607095
Fibrochondrogenesis 1
Platyspondyly, Posterior vertebral hypoplasia, Wide anterior fontanel, Stillbirth, Rhizomelia, Hy... OMIM:228520
Czech Dysplasia
Scoliosis, Platyspondyly, Short toe, Short metatarsal, Thoracic kyphosis, Flexion contracture, Ir... OMIM:609162
Brachyolmia Type 2
Platyspondyly OMIM:613678
Cartilage-Hair Hypoplasia
Scoliosis, Joint hypermobility, Limited elbow extension, Hypoplasia of the odontoid process, Lumb... OMIM:250250
Atelosteogenesis, Type Ii
Scoliosis, Platyspondyly, Stillbirth, Coronal cleft vertebrae, Micrognathia, Short middle phalanx... OMIM:256050
Microcephalic Osteodysplastic Dysplasia, Saul-Wilson Type
Platyspondyly, Irregularity of vertebral bodies, Short palm, Small hand, Hypoplasia of the odonto... ORPHA:85172
Craniofaciofrontodigital Syndrome
Hypoplastic vertebral bodies ORPHA:363705
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Scoliosis, Vertebral hypoplasia, Epiphyseal stippling, Stillbirth, Hypoplastic scapulae, Aplasia/... OMIM:308050
Scoliosis, Joint laxity, Joint stiffness, Delayed epiphyseal ossification, Short femoral neck, Os... ORPHA:750
Osteogenesis Imperfecta, Type Xix
Scoliosis, Biconcave vertebral bodies, Rhizomelia, Recurrent fractures, Osteopenia, Vertebral wed... OMIM:301014
Osteogenesis Imperfecta, Type V
Platyspondyly, Joint hypermobility, Biconcave vertebral bodies, Recurrent fractures, Hyperextensi... OMIM:610967
Spondyloepiphyseal Dysplasia, Maroteaux Type
Platyspondyly OMIM:184095
Bruck Syndrome 1
Scoliosis, Platyspondyly, Osteoporosis, Joint laxity, Kyphosis, Increased susceptibility to fract... OMIM:259450
Myhre Syndrome
Platyspondyly, Short finger, Camptodactyly, Enlarged vertebral pedicles, Vertebral fusion, Joint ... OMIM:139210
Spondylometaphyseal Dysplasia, X-Linked
Platyspondyly, Kyphosis, Short finger, Thoracolumbar scoliosis, Knee flexion contracture, Hip con... OMIM:313420
Pde4D Haploinsufficiency Syndrome
Upper limb undergrowth, Short metatarsal, Joint laxity, Short middle phalanx of finger, Irregular... ORPHA:439822
Spondyloepiphyseal Dysplasia Tarda
Scoliosis, Limited wrist movement, Localized osteoporosis, Thoracic kyphosis, Limited shoulder mo... ORPHA:93284
Morquio Syndrome C
Platyspondyly OMIM:252300
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly
Multiple small vertebral fractures, Platyspondyly, Short middle phalanx of the 2nd finger, Short ... OMIM:156510
Kuskokwim Syndrome
Scoliosis, Abnormal form of the vertebral bodies, Aplasia/Hypoplasia of the radius, Aplasia/Hypop... ORPHA:1149
Spondyloepiphyseal Dysplasia, Kimberley Type
Platyspondyly OMIM:608361
Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome
Tarsal synostosis, Abnormal form of the vertebral bodies, Posterior fusion of lumbosacral vertebr... ORPHA:2064
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Osteoporosis, Platyspondyly, Kyphosis ORPHA:2786
Spondyloepiphyseal Dysplasia, Kimberley Type
Platyspondyly, Osteoarthritis, Micromelia ORPHA:93283
Scoliosis, Platyspondyly, Anisospondyly, Generalized joint laxity, Kyphoscoliosis, Vertebral segm... ORPHA:85198
Gm1 Gangliosidosis Type 1
Beaking of vertebral bodies T12-L3, Hypoplastic vertebral bodies, Platyspondyly ORPHA:79255
Alagille Syndrome
Abnormal form of the vertebral bodies, Micrognathia, Hypoplasia of the ulna, Short distal phalanx... ORPHA:52
Multiple Sulfatase Deficiency
Hypoplastic vertebral bodies OMIM:272200
Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant
Platyspondyly, Irregular vertebral endplates, Lumbar hyperlordosis, Cervical subluxation, Kyphosc... OMIM:184100
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive
Hip osteoarthritis, Platyspondyly, Osteoarthritis OMIM:271600
Epiphyseal Dysplasia, Multiple, With Severe Proximal Femoral Dysplasia
Platyspondyly, Irregularity of vertebral bodies, Short femoral neck OMIM:609324
Pseudodiastrophic Dysplasia
Scoliosis, Platyspondyly, Rhizomelia ORPHA:85174
Osteogenesis Imperfecta, Type Ix
Scoliosis, Platyspondyly, Kyphosis, Decreased calvarial ossification, Recurrent fractures, Multip... OMIM:259440
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Small cervical vertebral bodies, Cervical spinal canal stenosis, Short ribs, Twelfth rib hypoplas... ORPHA:397715
Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes
Platyspondyly, Lumbar scoliosis, Irregular vertebral endplates, Lower limb undergrowth, Kyphoscol... OMIM:612847
Spondyloepimetaphyseal Dysplasia, Handigodu Type
Platyspondyly, Abnormality of the vertebral column, Hip osteoarthritis, Limited hip movement, Lum... ORPHA:99642
Mucolipidosis Ii Alpha/Beta
Lower thoracic interpediculate narrowness, Beaking of vertebral bodies T12-L3, Ovoid vertebral bo... OMIM:252500
Spondyloepimetaphyseal Dysplasia, Irapa Type
Hypoplastic sacrum, Platyspondyly, Limited elbow extension, Upper limb undergrowth, Short metatar... OMIM:271650
Microphthalmia, Syndromic 3
Vertebral hypoplasia, Hemivertebrae, Vertebral fusion, Missing ribs, Butterfly vertebrae OMIM:206900
Pseudodiastrophic Dysplasia
Scoliosis, Platyspondyly, Hypoplasia of the odontoid process, Micrognathia, Rhizomelia, Camptodac... OMIM:264180
Acrodysostosis With Multiple Hormone Resistance
Scoliosis, Short metatarsal, Absent/hypoplastic paranasal sinuses, Short metacarpal, Narrow verte... ORPHA:280651
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type
Scoliosis, Platyspondyly OMIM:618728
Dyssegmental Dysplasia With Glaucoma
Platyspondyly, Wide anterior fontanel, Delayed epiphyseal ossification, Hip contracture, Elbow fl... OMIM:601561
Spondyloepimetaphyseal Dysplasia, Sponastrime Type
Platyspondyly, Limited elbow extension, Biconcave vertebral bodies, Thoracic kyphosis, Delayed os... OMIM:271510
Spondylometaphyseal Dysplasia With Corneal Dystrophy
Lumbar platyspondyly, Beaking of vertebral bodies, Limb undergrowth, Short ribs, Coarse metaphyse... OMIM:618961
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Scoliosis, Generalized bone demineralization, Short distal phalanx of finger, Intervertebral spac... OMIM:143095
Scoliosis, Hyperlordosis, Abnormal form of the vertebral bodies, Joint hyperflexibility, Spinal c... ORPHA:429
Acrofacial Dysostosis, Palagonia Type
Scoliosis, Short 4th metacarpal, Abnormal vertebral morphology, Spina bifida occulta at S1, Hypop... OMIM:601829
Osteogenesis Imperfecta, Type Vi
Joint laxity, Biconcave vertebral bodies, Beaking of vertebral bodies, Increased susceptibility t... OMIM:613982
Gm1-Gangliosidosis, Type Iii
Scoliosis, Platyspondyly, Kyphosis, Anterior beaking of lumbar vertebrae OMIM:230650
Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant
Platyspondyly, Premature osteoarthritis OMIM:184840
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome
Platyspondyly, Abnormality of the intervertebral disk, Joint stiffness, Osteoarthritis ORPHA:1345
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Platyspondyly, Shoulder flexion contracture, Short femur, Stillbirth, Micrognathia, Flexion contr... OMIM:210710
Multiple Epiphyseal Dysplasia Type 4
Scoliosis, Short metatarsal, Joint stiffness, Short thumb, Short femoral neck, Micrognathia, Elbo... ORPHA:93307
Eiken Syndrome
Abnormal bone ossification, Delayed epiphyseal ossification, Abnormal trabecular bone morphology,... ORPHA:79106
Progressive Pseudorheumatoid Arthropathy Of Childhood
Scoliosis, Irregularity of vertebral bodies, Hyperlordosis, Platyspondyly, Beaking of vertebral b... ORPHA:1159
Orofaciodigital Syndrome Xi
Hypoplasia of the odontoid process, Kyphoscoliosis OMIM:612913
Spondyloperipheral Dysplasia-Short Ulna Syndrome
Platyspondyly, Limited elbow extension, Delayed pubic bone ossification, Short metatarsal, Aplasi... ORPHA:1856
Smith-Mccort Dysplasia 1
Scoliosis, Platyspondyly, Atlantoaxial instability, Multicentric femoral head ossification, Delay... OMIM:607326
Spondylometaphyseal Dysplasia, Type A4
Platyspondyly, Ovoid vertebral bodies, Osteoporotic tarsals OMIM:609052
Bruck Syndrome
Scoliosis, Platyspondyly, Osteoporosis, Arthrogryposis multiplex congenita, Kyphosis, Recurrent f... ORPHA:2771
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Scoliosis, Platyspondyly, Mesomelic arm shortening, Distal ulnar epiphyseal stippling, Beaking of... OMIM:609616
Osteogenesis Imperfecta, Type Xv
Scoliosis, Platyspondyly, Joint hypermobility, Recurrent fractures, Bowing of limbs due to multip... OMIM:615220
Hall-Riggs Mental Retardation Syndrome
Scoliosis, Platyspondyly, Osteoporosis, Kyphosis, Irregular vertebral endplates OMIM:234250
Spondyloepimetaphyseal Dysplasia With Joint Laxity
Scoliosis, Platyspondyly, Limited elbow extension, Joint laxity, Abnormal vertebral morphology, B... ORPHA:93359
Spondyloepiphyseal Dysplasia Tarda, X-Linked
Scoliosis, Platyspondyly, Hip osteoarthritis, Kyphosis, Lumbar hyperlordosis, Short femoral neck,... OMIM:313400
Progressive Pseudorheumatoid Dysplasia
Osteoporosis, Platyspondyly, Camptodactyly of finger, Sclerotic vertebral endplates, Decreased ce... OMIM:208230
Spondyloepimetaphyseal Dysplasia, Irapa Type
Osteoporosis, Platyspondyly, Upper limb undergrowth, Short metatarsal, Synostosis of carpal bones... ORPHA:93351
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type
Platyspondyly, Abnormal vertebral morphology, Aplasia/hypoplasia involving bones of the extremiti... ORPHA:93346
Spondylometaphyseal Dysplasia, Schmidt Type
Platyspondyly, Micromelia, Kyphoscoliosis ORPHA:93316
Thanatophoric Dysplasia, Type Ii
Platyspondyly, Neonatal death, Small abnormally formed scapulae, Short ribs OMIM:187601
Geroderma Osteodysplastica
Scoliosis, Platyspondyly, Osteoporosis, Abnormal bone ossification, Biconcave vertebral bodies, A... ORPHA:2078
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome
Osteoporosis, Platyspondyly ORPHA:71267
Calvarial Doughnut Lesions With Bone Fragility
Scoliosis, Platyspondyly, Osteoporosis, Recurrent fractures, Osteopenia OMIM:126550
Rhizomelic Dysplasia, Patterson-Lowry Type
Platyspondyly, Short metatarsal, Rhizomelia, Short humerus, Short metacarpal OMIM:601438
Osteogenesis Imperfecta, Type Xiii
Scoliosis, Platyspondyly, Joint hypermobility, Osteoporosis, Increased bone mineral density, Kyph... OMIM:614856
Hajdu-Cheney Syndrome
Scoliosis, Hypoplastic 5th lumbar vertebrae, Osteoporosis, Osteolysis, Absent frontal sinuses, Bi... ORPHA:955
Spondylometaphyseal Dysplasia, Kozlowski Type
Platyspondyly, Carpal bone hypoplasia, Severe carpal ossification delay, Kyphoscoliosis, Short ne... OMIM:184252
Gm1-Gangliosidosis, Type Ii
Platyspondyly OMIM:230600
Spondylometaphyseal Dysplasia, Axial
Platyspondyly, Short femoral neck, Rhizomelia OMIM:602271
Neural Tube Defects, Susceptibility To
Sacral dimple, Absence of the sacrum, Asymmetry of spinal facet joints, Spina bifida occulta OMIM:182940
Spondyloepimetaphyseal Dysplasia, Strudwick Type
Scoliosis, Platyspondyly, Hyperlordosis, Delayed pubic bone ossification, C1-C2 subluxation, Hypo... OMIM:184250
Brachydactyly, Type B1
Hypoplastic sacrum, Wide anterior fontanel, Short middle phalanx of finger, Camptodactyly, Hemive... OMIM:113000
Geroderma Osteodysplasticum
Osteoporosis, Platyspondyly, Biconcave vertebral bodies, Beaking of vertebral bodies, Camptodacty... OMIM:231070
Slc39A13-Related Spondylodysplastic Ehlers-Danlos Syndrome
Platyspondyly, Short femoral neck, Flexion contracture, Osteopenia ORPHA:157965
Campomelic Dysplasia
Hypoplastic cervical vertebrae, Poorly ossified cervical vertebrae, Wide anterior fontanel, Hypop... OMIM:114290
Lethal Congenital Contracture Syndrome 1
Arthrogryposis multiplex congenita, Neonatal death, Micrognathia, Widening of cervical spinal canal OMIM:253310
Autosomal Recessive Stickler Syndrome
Platyspondyly, Joint hyperflexibility, Micrognathia, Irregular vertebral endplates ORPHA:250984
Chondroectodermal Dysplasia With Night Blindness
Osteoporosis, Platyspondyly, Fractures of the long bones, Osteopenia, Micrognathia ORPHA:319195
Atelosteogenesis Type Iii
Vertebral hypoplasia, Thoracolumbar kyphosis, Fibular aplasia, Coronal cleft vertebrae, Abnormal ... ORPHA:56305
Odontochondrodysplasia 1
Scoliosis, Platyspondyly, Joint hypermobility, Osteoporosis, Biconvex vertebral bodies, Coronal c... OMIM:184260
Hypophosphatasia, Infantile
Platyspondyly, Craniosynostosis, Stillbirth, Decreased calvarial ossification, Death in infancy, ... OMIM:241500
Scoliosis, Platyspondyly, Joint hyperflexibility, Death in infancy, Short palm, Micromelia ORPHA:166272
Scoliosis, Platyspondyly, Limited elbow extension, Limited hip extension, Delayed epiphyseal ossi... OMIM:177170
Spondyloepiphyseal Dysplasia, Nishimura Type
Platyspondyly, Abnormal bone ossification, Anisospondyly, Hemiatrophy of upper limb, Wide anterio... ORPHA:163649
Bruck Syndrome 2
Platyspondyly, Flexion contracture, Increased susceptibility to fractures, Knee flexion contractu... OMIM:609220
Atelosteogenesis Type Ii
Short femur, Hypoplastic cervical vertebrae, Upper limb undergrowth, Micrognathia, Rhizomelia, Ca... ORPHA:56304
Spondyloepiphyseal Dysplasia, Myopia, And Sensorineural Deafness
Lumbar hyperlordosis, Platyspondyly, Short neck OMIM:184000
Spondyloepiphyseal Dysplasia Congenita
Scoliosis, Platyspondyly, Osteoporosis, Short femur, Upper limb undergrowth, Micrognathia, Aplasi... ORPHA:94068
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type
Platyspondyly, Limited elbow extension, Ovoid vertebral bodies, Lumbar hyperlordosis, Micromelia OMIM:608728
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3
Scoliosis, Platyspondyly, Joint laxity, Carpal bone hypoplasia, Irregular vertebral endplates, Hy... OMIM:618395
Osteogenesis Imperfecta, Type Xvii
Scoliosis, Platyspondyly, Vertebral compression fracture, Osteoporosis OMIM:616507
Spondyloepiphyseal Dysplasia Congenita
Scoliosis, Platyspondyly, Atlantoaxial instability, Delayed pubic bone ossification, Ovoid verteb... OMIM:183900
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Platyspondyly, Short neck, Rhizomelia, Decreased skull ossification, Micrognathia ORPHA:93267
Kniest-Like Dysplasia With Pursed Lips And Ectopia Lentis
Platyspondyly, Flexion contracture, Absent ossification of capital femoral epiphysis, Cervical ky... OMIM:245160
Metaphyseal Acroscyphodysplasia
Scoliosis, Platyspondyly, Craniosynostosis, Biconcave vertebral bodies, Short finger, Short palm,... OMIM:250215
Stickler Syndrome Type 1
Platyspondyly, Joint hyperflexibility, Abnormality of vertebral epiphysis morphology, Osteoarthritis ORPHA:90653
Spondyloepimetaphyseal Dysplasia With Abnormal Dentition
Platyspondyly, Short femoral neck, Joint contracture of the 5th finger, Irregular vertebral endpl... OMIM:601668
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Scoliosis, Platyspondyly, Rhizomelia, Ovoid vertebral bodies, Short finger, Severe platyspondyly,... OMIM:608940
Ollier Disease
Platyspondyly, Osteolysis, Joint stiffness, Micromelia ORPHA:296
Camptodactyly Syndrome, Guadalajara, Type I
Hypoplastic 5th lumbar vertebrae, Short metatarsal, Sacral dimple, Twelfth rib hypoplasia, Lumbar... OMIM:211910
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Platyspondyly, Short ribs, Micrognathia, Vertebral wedging, Micromelia OMIM:617866
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Disc-like vertebral bodies, Decreased cranial base ossification, Severe limb shortening, Limb und... OMIM:151210
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3
Platyspondyly, Camptodactyly of finger, Joint laxity, Irregular vertebral endplates, Kyphoscolios... OMIM:612350
Brachyolmia Type 3
Scoliosis, Platyspondyly, Kyphosis, Short femoral neck, Short neck OMIM:113500
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Platyspondyly, Distal shortening of limbs, Rhizomelia, Decreased skull ossification, 11 pairs of ... OMIM:300863
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type
Platyspondyly, Wide anterior fontanel, Mesomelia, Limb undergrowth, Shortening of all metacarpals OMIM:601356
Hemifacial Microsomia
Vertebral hypoplasia, Block vertebrae, Micrognathia, Hemivertebrae OMIM:164210
Wiedemann-Rautenstrauch Syndrome
Joint hypermobility, Cervical vertebral dysplasia, Short femur, Camptodactyly of finger, Irregula... ORPHA:3455
Spondylometaphyseal Dysplasia, Kozlowski Type
Scoliosis, Platyspondyly, Kyphosis, Aplastic clavicle, Short neck, Limitation of joint mobility, ... ORPHA:93314
Diamond-Blackfan Anemia 1
Hypoplasia of the radius, Hypoplastic coccygeal vertebrae, Micrognathia, Absent thumb, Bifid thor... OMIM:105650
Larsen Syndrome
Scoliosis, Multiple carpal ossification centers, Hypoplastic cervical vertebrae, Short metatarsal... OMIM:150250
Osteogenesis Imperfecta, Type Xxi
Scoliosis, Platyspondyly, Osteoporosis, Joint hypermobility, Recurrent fractures OMIM:619131
Spondylo-Ocular Syndrome
Osteoporosis, Platyspondyly, Thoracic kyphosis, Joint hyperflexibility, Abnormality of the interv... ORPHA:85194
Spondyloperipheral Dysplasia
Short distal phalanx of the 5th finger, Platyspondyly, Short toe, Limited elbow extension, Short ... OMIM:271700
Femoral-Facial Syndrome
Scoliosis, Short fifth metatarsal, Humeroradial synostosis, Radioulnar synostosis, Short fourth m... OMIM:134780
Mucopolysaccharidosis, Type Iva
Scoliosis, Platyspondyly, Hyperlordosis, Osteoporosis, Joint laxity, Ovoid vertebral bodies, Kyph... OMIM:253000
Mucopolysaccharidosis, Type Ivb
Scoliosis, Platyspondyly, Hyperlordosis, Osteoporosis, Joint laxity, Ovoid vertebral bodies, Kyph... OMIM:253010
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive
Platyspondyly, Coronal cleft vertebrae, Beaking of vertebral bodies, Flexion contracture, Lumbar ... OMIM:215150
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2
Platyspondyly, Joint laxity, Carpal synostosis, Kyphoscoliosis, Advanced ossification of carpal b... OMIM:615349
Kniest Dysplasia
Platyspondyly, Flexion contracture of finger, Coronal cleft vertebrae, Aplasia/hypoplasia of the ... ORPHA:485
Otospondylomegaepiphyseal Dysplasia
Platyspondyly, Abnormal vertebral morphology, Coronal cleft vertebrae, Micrognathia, Limb undergr... ORPHA:1427
Dyggve-Melchior-Clausen Syndrome, X-Linked
Scoliosis, Hypoplastic sacrum, Platyspondyly, Distal ulnar hypoplasia, Thoracic kyphosis, Carpal ... OMIM:304950
Desbuquois Dysplasia 1
Scoliosis, Platyspondyly, Hyperlordosis, Osteoporosis, Short metatarsal, Joint laxity, Advanced t... OMIM:251450
Osteogenesis Imperfecta, Type Viii
Scoliosis, Platyspondyly, Wide anterior fontanel, Joint laxity, Kyphosis, Recurrent fractures, Mu... OMIM:610915
Metaphyseal Chondrodysplasia, Schmid Type
Short distal phalanx of finger, Platyspondyly, Irregular vertebral endplates, Short middle phalan... OMIM:156500
Osteogenesis Imperfecta, Type Ii
Platyspondyly, Recurrent fractures, Multiple prenatal fractures, Absent ossification of calvaria OMIM:166210
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Contracture of the distal interphalangeal joint of the fingers, Coronal craniosynostosis, Microgn... ORPHA:83617
Cantu Syndrome
Short hallux, Platyspondyly, Osteoporosis, Ovoid vertebral bodies, Cuboid-shaped vertebral bodies... OMIM:239850
Spondyloepimetaphyseal Dysplasia, Missouri Type
Platyspondyly, Limited elbow extension, Rhizomelia, Irregular sclerotic endplates, Pear-shaped ve... OMIM:602111
Multiple Synostoses Syndrome 1
Short hallux, Tarsal synostosis, Abnormal vertebral morphology, Short sternum, Proximal symphalan... OMIM:186500
Spondyloepimetaphyseal Dysplasia, Aggrecan Type
Platyspondyly, Joint laxity, Rhizomelia, Short finger, Mesomelia, Lumbar hyperlordosis, Short neck OMIM:612813
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type
Platyspondyly, Craniosynostosis, Osteopenia, Thoracolumbar scoliosis, Short metacarpal, Short fem... OMIM:616723
Saul-Wilson Syndrome
Platyspondyly, Short metatarsal, Wide anterior fontanel, Short distal phalanx of finger, Short me... OMIM:618150
Atelosteogenesis, Type I
Fibular aplasia, Short femur, Short metatarsal, Coronal cleft vertebrae, Stillbirth, Micrognathia... OMIM:108720
Fibrochondrogenesis 2
Platyspondyly, Micrognathia, Short ribs OMIM:614524
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Platyspondyly, Rhizomelia, Death in infancy, Short foot, Micrognathia, Short palm ORPHA:163966
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus
Hyperlordosis, Platyspondyly, Osteoporosis, Irregular tarsal ossification, Carpal bone hypoplasia... OMIM:226980
Metaphyseal Chondrodysplasia, Schmid Type
Platyspondyly, Abnormal vertebral morphology, Irregular vertebral endplates, Limb undergrowth, Os... ORPHA:174
Schwartz-Jampel Syndrome, Type 1
Osteoporosis, Platyspondyly, Shoulder flexion contracture, Coronal cleft vertebrae, Micrognathia,... OMIM:255800
Dyggve-Melchior-Clausen Disease
Scoliosis, Platyspondyly, Multicentric ossification of proximal femoral epiphyses, Short metatars... OMIM:223800
Spondyloepimetaphyseal Dysplasia With Multiple Dislocations
Scoliosis, Platyspondyly, Thoracolumbar kyphosis, Delayed epiphyseal ossification, Joint laxity, ... ORPHA:93360
Alagille Syndrome 1
Short distal phalanx of finger, Butterfly vertebral arch, Hypoplasia of the ulna, Hemivertebrae OMIM:118450
Cole-Carpenter Syndrome 2
Platyspondyly, Lambdoidal craniosynostosis, Microretrognathia, Kyphosis, Coronal craniosynostosis... OMIM:616294
Smith-Mccort Dysplasia 2
Platyspondyly, Short metatarsal, Short metacarpal, Short neck, Hypoplasia of the odontoid process OMIM:615222
Stickler Syndrome, Type I
Scoliosis, Platyspondyly, Beaking of vertebral bodies, Kyphosis, Spondylolisthesis, Morbus Scheue... OMIM:108300
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Platyspondyly, Short femur, Short neck, Flexion contracture, Limb undergrowth, Short ribs, Fractu... OMIM:616897
Kniest Dysplasia
Platyspondyly, Coronal cleft vertebrae, Delayed epiphyseal ossification, Hip contracture, Short n... OMIM:156550
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech
Platyspondyly, Short toe, Delayed epiphyseal ossification, Carpal bone hypoplasia, Flexion contra... OMIM:611717
Mucopolysaccharidosis, Type Vii
Scoliosis, Platyspondyly, Thoracolumbar kyphosis, Flexion contracture, Anterior beaking of lumbar... OMIM:253220
Atelosteogenesis Type I
Scoliosis, Platyspondyly, Short femur, Abnormal ossification involving the femoral head and neck,... ORPHA:1190
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy
Platyspondyly, Thoracic kyphosis, Short finger, Flexion contracture, Short femoral neck, Short ne... OMIM:300232
Anauxetic Dysplasia 3
Platyspondyly, Joint hypermobility, Wide anterior fontanel, Beaking of vertebral bodies, Short mi... OMIM:618853
Mucopolysaccharidosis Type 4
Scoliosis, Platyspondyly, Hyperlordosis, Joint hyperflexibility, Kyphosis, Reduced bone mineral d... ORPHA:582
Dyggve-Melchior-Clausen Disease
Atlantoaxial instability, Platyspondyly, Limited elbow extension, Abnormality of the vertebral co... ORPHA:239
Osteogenesis Imperfecta, Type X
Scoliosis, Platyspondyly, Joint laxity, Generalized joint laxity, Osteopenia, Micrognathia, Verte... OMIM:613848
Hyperlordosis, Mandibular aplasia, Arthrogryposis multiplex congenita, Rhizomelia, Absent vertebra ORPHA:63259
Scoliosis, Absent/hypoplastic coccyx, Absent/hypoplastic paranasal sinuses, Flexion contracture, ... OMIM:230000
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Platyspondyly, Wide anterior fontanel, Rhizomelia, Kyphosis, Mesomelia, Lumbar hyperlordosis OMIM:616482
Platyspondylic Dysplasia, Torrance Type
Platyspondyly, Hypoplastic scapulae, Short distal phalanx of finger, Short foot, Short palm, Micr... ORPHA:85166
Hall-Riggs Syndrome
Scoliosis, Platyspondyly, Joint stiffness, Limb undergrowth ORPHA:2107
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Platyspondyly, Kyphosis, Osteopetrosis OMIM:618476
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Scoliosis, Platyspondyly, Hyperlordosis, Decreased hip abduction, Rhizomelia, Limited elbow movem... ORPHA:85167
Schimke Immunoosseous Dysplasia
Platyspondyly, Thoracic kyphosis, Ovoid vertebral bodies, Lumbar hyperlordosis, Osteopenia, Short... OMIM:242900
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome
Hyperlordosis, Platyspondyly, Limited elbow extension, Craniosynostosis, Hyperextensible hand joi... ORPHA:457395
Hurler Syndrome
Short neck, Biconcave vertebral bodies, Kyphosis, Flexion contracture, Joint stiffness, Short cla... OMIM:607014
Sillence Syndrome
Scoliosis, Platyspondyly, Intervertebral disc degeneration, Abnormal vertebral morphology, Short ... ORPHA:3168
Hypertrichotic Osteochondrodysplasia, Cantu Type
Short hallux, Platyspondyly, Osteoporosis, Ovoid vertebral bodies, Cuboid-shaped vertebral bodies... ORPHA:1517
Bone Fragility With Contractures, Arterial Rupture, And Deafness
Scoliosis, Platyspondyly, Pathologic fracture, Osteopenia, Elbow flexion contracture OMIM:612394
Mucopolysaccharidosis, Type Vi
Ovoid vertebral bodies, Anterior wedging of L2, Lumbar hyperlordosis, Joint stiffness, Anterior w... OMIM:253200
Otopalatodigital Syndrome, Type Ii
Short hallux, Platyspondyly, Rudimentary fibula, Nonossified fifth metatarsal, Short metatarsal, ... OMIM:304120
Mayer-Rokitansky-K├╝ster-Hauser Syndrome
Vertebral fusion, Vertebral segmentation defect, Abnormal sacrum morphology, Abnormal form of the... ORPHA:3109
Aarskog-Scott Syndrome
Scoliosis, Joint laxity, Short palm, Short foot, Cervical spine hypermobility, Short neck, Short ... OMIM:305400
Lowry-Wood Syndrome
Platyspondyly, Joint stiffness ORPHA:1824
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Thoracolumbar kyphosis, Cervical spinal canal stenosis, Craniosynostosis, Aplasia/hypoplasia invo... ORPHA:508533
Blomstrand Lethal Chondrodysplasia
Platyspondyly, Synostosis of joints, Rhizomelia, Mesomelia, Short ribs, Increased bone mineral de... ORPHA:50945
Fanconi Anemia, Complementation Group C
Flexion contracture, Anterior wedging of T12, Absent radius, Short thumb, Absent thumb, Prolonged... OMIM:227645
Spondyloenchondrodysplasia With Immune Dysregulation
Scoliosis, Platyspondyly, Rheumatoid arthritis, Irregular vertebral endplates, Lumbar hyperlordos... OMIM:607944
Osteoporosis-Pseudoglioma Syndrome
Osteoporosis, Platyspondyly, Joint hypermobility, Pathologic fracture, Increased susceptibility t... OMIM:259770
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Scoliosis, Platyspondyly, Joint hypermobility, Craniosynostosis, Osteoporosis, Radioulnar synosto... ORPHA:536467
Spondylocarpotarsal Synostosis Syndrome
Scoliosis, Hyperlordosis, Limited elbow extension, Tarsal synostosis, C2-C3 subluxation, Carpal s... OMIM:272460
Sacral Defect With Anterior Meningocele
Absence of the sacrum, Hemisacrum, Back pain, Anterior sacral meningocele OMIM:600145
Currarino Syndrome
Sacrococcygeal teratoma, Aplasia/Hypoplasia of the sacrum ORPHA:1552
Marshall-Smith Syndrome
Scoliosis, Short sternum, Short distal phalanx of finger, Death in childhood, Atlantoaxial disloc... OMIM:602535
Codas Syndrome
Scoliosis, Coronal cleft vertebrae, Generalized joint laxity, Delayed ossification of carpal bone... OMIM:600373
Osteoglophonic Dysplasia
Platyspondyly, Craniosynostosis, Short metatarsal, Rhizomelia, Hypoplastic scapulae, Limb undergr... OMIM:166250
Spondylometaphyseal Dysplasia, Algerian Type
Platyspondyly, Carpal bone hypoplasia, Lumbar hyperlordosis, Kyphoscoliosis, Hypoplasia of proxim... OMIM:184253
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
Osteoporosis, Platyspondyly, Joint laxity, Delayed proximal femoral epiphyseal ossification, Micr... OMIM:271640
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type
Scoliosis, Platyspondyly, Atlantoaxial instability, Epiphyseal stippling, Micrognathia, Abnormal ... OMIM:271665
Spondyloepimetaphyseal Dysplasia, X-Linked
Platyspondyly, Limited elbow extension, Delayed ossification of carpal bones, Kyphosis, Short pal... OMIM:300106
Occipital Horn Syndrome
Osteoporosis, Platyspondyly, Limited elbow extension, Joint laxity, Limited knee extension, Kypho... OMIM:304150
Odontochondrodysplasia 2 With Hearing Loss And Diabetes
Scoliosis, Platyspondyly, Osteopenia, Short toe OMIM:619269
Occipital Horn Syndrome
Scoliosis, Platyspondyly, Osteoporosis, Absent tibia, Osteolysis, Synostosis of joints, Rickets, ... ORPHA:198
Spondyloepimetaphyseal Dysplasia, Genevieve Type
Platyspondyly, Posterior scalloping of vertebral bodies, Joint laxity, Carpal bone hypoplasia, Ir... OMIM:610442
Sponastrime Dysplasia
Scoliosis, Platyspondyly, Limited elbow extension, Delayed epiphyseal ossification, Abnormality o... ORPHA:93357
Phocomelia, Schinzel Type
Hypoplasia of the radius, Fibular aplasia, Short neck, Humeroradial synostosis, Foot oligodactyly... ORPHA:2879
Kyphomelic Dysplasia
Platyspondyly, Short femur, Short humerus, Short metacarpal, Micrognathia, Limitation of joint mo... OMIM:211350
Spondylometaphyseal Dysplasia, Sedaghatian Type
Platyspondyly, Delayed epiphyseal ossification, Rhizomelia, Short finger, Short metacarpal, Short... OMIM:250220
Scoliosis, Platyspondyly, Joint laxity, Beaking of vertebral bodies, Kyphosis, Spondylolysis, Hyp... OMIM:208400
Fanconi Anemia, Complementation Group E
Absent thumb, Absent radius, Prolonged G2 phase of cell cycle, Short thumb OMIM:600901
Fanconi Anemia, Complementation Group A
Absent thumb, Absent radius, Prolonged G2 phase of cell cycle, Short thumb OMIM:227650
Lowe Oculocerebrorenal Syndrome
Scoliosis, Platyspondyly, Joint hypermobility, Camptodactyly of finger, Rickets, Kyphosis, Osteom... OMIM:309000
Fanconi Anemia, Complementation Group D2
Aplasia of the 1st metacarpal, Absent radius, Short thumb, Absent thumb, Prolonged G2 phase of ce... OMIM:227646
Mosaic Variegated Aneuploidy Syndrome
Abnormal lung lobation, Myelodysplasia, Neoplasm, Nephroblastoma, Stomach cancer, Rhabdomyosarcom... ORPHA:1052
Mosaic Variegated Aneuploidy Syndrome 2
Craniosynostosis, Rhizomelia, Micrognathia OMIM:614114


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 Cep57

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 Cep57.

No publications found that use IMPC mice or data for Cep57.

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MGI Allele Allele Type Produced
Cep57tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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