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Genes Phenotypes Help, News, Blog

Gene: Ssbp3 MGI:1919725

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Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
single-stranded DNA binding protein 3
Synonyms:
5730488C10Rik,  2610021L12Rik,  2610200M23Rik

Order Alleles

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by Ssbp3 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.

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

The table below shows human diseases predicted to be associated to Ssbp3 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Autosomal Dominant Spondylocostal Dysostosis
Macrocephaly, Spina bifida occulta, Short thorax, Scoliosis, Hyperlordosis, Vertebral segmentatio... ORPHA:1797
Autosomal Recessive Spondylocostal Dysostosis
Macrocephaly, Abnormal intervertebral disk morphology, Spina bifida occulta, Meningocele, Short t... ORPHA:2311
Spondylocostal Dysostosis 4, Autosomal Recessive
Abnormal odontoid process morphology, Bell-shaped thorax, Spina bifida occulta, Short thorax, Hyd... OMIM:613686
Basal Cell Nevus Syndrome 1
Polydactyly, Short 4th metacarpal, Kyphoscoliosis, Macrocephaly, Short distal phalanx of the thum... OMIM:109400
Becker Nevus Syndrome
Abnormal tibia morphology, Spina bifida occulta, Pectus carinatum, Scoliosis, Pectus excavatum, K... ORPHA:64755
Gorlin Syndrome
Bifid ribs, Macrocephaly, Abnormal vertebral morphology, Hydrocephalus, Cerebral calcification, S... ORPHA:377
Aicardi Syndrome
Butterfly vertebrae, Proximal placement of thumb, Cavum septum pellucidum, Cerebellar vermis hypo... OMIM:304050
Spondylocostal Dysostosis 3, Autosomal Recessive
Supernumerary vertebral ossification centers, Scoliosis, Vertebral segmentation defect, Kyphosis,... OMIM:609813
Cerebrofaciothoracic Dysplasia
Hypoplasia of the corpus callosum, Macrocephaly, Narrow chest, Cerebellar vermis hypoplasia, Scol... ORPHA:1394
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Clinodactyly of the 5th finger, Finger syndactyly, Pectus carinatum, Scoliosis, Abnormal rib morp... ORPHA:3268
Spondylocostal Dysostosis 1, Autosomal Recessive
Kyphoscoliosis, Abnormal odontoid process morphology, Hemivertebrae, Vertebral segmentation defec... OMIM:277300
Spondylocostal Dysostosis 2, Autosomal Recessive
Hemivertebrae, Vertebral segmentation defect, Vertebral clefting, Rib fusion, Short neck OMIM:608681
Femoral-Facial Syndrome
Abnormal fibula morphology, Aplasia/Hypoplasia of the corpus callosum, Scoliosis, Vertebral segme... ORPHA:1988
Spondylometaphyseal Dysplasia, Type A4
Narrow greater sciatic notch, Sclerotic humeral metaphysis, Costochondral joint sclerosis, Enlarg... OMIM:609052
Poland Syndrome
Short ribs, Hemivertebrae, Sprengel anomaly, Unilateral oligodactyly, Syndactyly, Rib fusion, Uni... OMIM:173800
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
Pectus excavatum, Microcephaly, Craniosynostosis, Overlapping toe, Decreased response to growth h... OMIM:213980
Thanatophoric Dysplasia, Type I
Macrocephaly, Platyspondyly, Narrow chest, Short greater sciatic notch, Flared metaphysis, Hydroc... OMIM:187600
Spondylocostal Dysostosis 5
Butterfly vertebrae, Pectus carinatum, Scoliosis, Hemivertebrae, Missing ribs, Supernumerary ribs... OMIM:122600
Septopreoptic Holoprosencephaly
Megalencephaly, Abnormal vertebral morphology, Anterior hypopituitarism, Abnormal septum pellucid... ORPHA:280195
Metatropic Dysplasia
Narrow greater sciatic notch, Kyphoscoliosis, Relatively short spine, Short ribs, Long coccyx, Cu... OMIM:156530
Congenital Disorder Of Glycosylation, Type Iig
Kyphoscoliosis, Progressive microcephaly, Short long bone, Microcephaly, Broad femoral neck, Late... OMIM:611209
Metatropic Dysplasia
Abnormal metaphysis morphology, Clinodactyly of the 5th finger, Abnormal intervertebral disk morp... ORPHA:2635
Brachyolmia Type 1, Hobaek Type
Short iliac bones, Squared-off platyspondyly, Lumbar hypolordosis, Platyspondyly, Intervertebral ... OMIM:271530
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Macrocephaly, Platyspondyly, 11 pairs of ribs, Metaphyseal cupping, Hypoplastic iliac wing, Thin ... OMIM:300863
Autosomal Recessive Multiple Pterygium Syndrome
Popliteal pterygium, Axillary pterygium, Multiple pterygia, Spina bifida occulta, Pterygium, Fing... ORPHA:2990
Aicardi Syndrome
Butterfly vertebrae, Bifid ribs, Polymicrogyria, Scoliosis, Missing ribs, Aplasia/Hypoplasia of t... ORPHA:50
Joubert Syndrome 13
Molar tooth sign on MRI OMIM:614173
Aprosencephaly And Cerebellar Dysgenesis
Absent mesencephalon, Aprosencephaly OMIM:601374
Pallister-Hall Syndrome
Hypothalamic hamartoma, Oligodactyly, Shortening of all distal phalanges of the fingers, Syndacty... OMIM:146510
Neurogenic Thoracic Outlet Syndrome
Abnormal rib morphology ORPHA:100073
Isolated Klippel-Feil Syndrome
Abnormal shoulder morphology, Cervical C2/C3 vertebral fusion, Abnormality of the vertebral colum... ORPHA:2345
Thanatophoric Dysplasia Type 2
Abnormal metaphysis morphology, Macrocephaly, Narrow chest, Encephalocele, Short thorax, Hydrocep... ORPHA:93274
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome
Microcephaly, Abnormal rib morphology ORPHA:2435
Mucopolysaccharidosis, Type Iva
Cervical myelopathy, Pectus carinatum, Hyperlordosis, Kyphosis, Constricted iliac wing, Large elb... OMIM:253000
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type
Genu valgum, Flat capital femoral epiphysis, Intervertebral space narrowing, Pectus carinatum, Sc... OMIM:609223
Schneckenbecken Dysplasia
Snail-like ilia, Short ribs, Short long bone, Flat acetabular roof, Dumbbell-shaped long bone, Th... OMIM:269250
Pseudoachondroplasia
Abnormal form of the vertebral bodies, Short long bone, Increased laxity of ankles, Flat acetabul... ORPHA:750
Metaphyseal Chondrodysplasia, Schmid Type
Short tubular bones of the hand, Distal femoral metaphyseal irregularity, Femoral bowing, Short l... ORPHA:174
Thanatophoric Dysplasia
Abnormal metaphysis morphology, Macrocephaly, Platyspondyly, Abnormal ilium morphology, Narrow ch... ORPHA:2655
Multiple Pterygium Syndrome, Escobar Variant
Rocker bottom foot, Dislocated radial head, Kyphosis, Arachnodactyly, Syndactyly, Umbilical herni... OMIM:265000
Axial Spondylometaphyseal Dysplasia
Narrow greater sciatic notch, Hypoplastic iliac wing, Delayed ossification of carpal bones, Short... ORPHA:168549
Spondylometaphyseal Dysplasia, Axial
Narrow greater sciatic notch, Narrow chest, Scoliosis, Coxa vara, Anterior rib cupping, Thoracic ... OMIM:602271
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Platyspondyly, Hydrocephalus, Hypoplastic iliac wing, Thin ribs, Abnormality of the calcaneus, Me... ORPHA:163966
Femoral-Facial Syndrome
Limited elbow movement, Aplasia/hypoplasia of the femur, Short humerus, Syndactyly, Absent verteb... OMIM:134780
Atelosteogenesis, Type Ii
Stillbirth, Sandal gap, Bifid humerus, Short greater sciatic notch, Hitchhiker thumb, Scoliosis, ... OMIM:256050
Spondyloepimetaphyseal Dysplasia, Handigodu Type
Hip subluxation, Platyspondyly, Wide distal femoral metaphysis, Arthralgia of the hip, Hip osteoa... ORPHA:99642
Progressive Pseudorheumatoid Arthropathy Of Childhood
Wrist swelling, Hyperlordosis, Broad femoral neck, Genu varum, Abnormal ilium morphology, Flat ca... ORPHA:1159
Dyggve-Melchior-Clausen Disease
Abnormal hip bone morphology, Pectus carinatum, Abnormal femoral head morphology, Short long bone... ORPHA:239
Sprengel Deformity
Cervical segmentation defect, Spina bifida occulta, Scoliosis, Hemivertebrae, Sprengel anomaly, R... OMIM:184400
Mucopolysaccharidosis, Type Ivb
Cervical myelopathy, Genu valgum, Thin corpus callosum, Platyspondyly, Scoliosis, Hyperlordosis, ... OMIM:253010
Epiphyseal Dysplasia, Multiple, With Severe Proximal Femoral Dysplasia
Flared femoral metaphysis, Genu valgum, Flat distal femoral epiphysis, Arthralgia of the hip, Cox... OMIM:609324
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome
Dysplastic corpus callosum, Macrocephaly, Clinodactyly of the 5th finger, Tapered toe, Sacral dim... ORPHA:544488
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Narrow greater sciatic notch, Beaking of vertebral bodies, Cone-shaped epiphyses of the phalanges... OMIM:609616
Spondyloepimetaphyseal Dysplasia, Irapa Type
Limited elbow extension, Hypoplastic sacrum, Genu valgum, Enlargement of the costochondral juncti... OMIM:271650
Brachyolmia Type 1, Toledo Type
Kyphoscoliosis, Abnormal odontoid process morphology, Squared-off platyspondyly, Precocious costo... OMIM:271630
Chromosome 1P36 Deletion Syndrome, Distal
Microcephaly, Lateral ventricle dilatation, Short 5th finger, Delayed closure of the anterior fon... OMIM:607872
Spondyloepiphyseal Dysplasia Congenita
Limited elbow movement, Cervical myelopathy, Delayed pubic bone ossification, Barrel-shaped chest... OMIM:183900
Microphthalmia, Syndromic 3
Hypoplasia of the corpus callosum, Butterfly vertebrae, Patent ductus arteriosus, Optic nerve hyp... OMIM:206900
Thanatophoric Dysplasia, Type Ii
Platyspondyly, Narrow chest, Short greater sciatic notch, Flared metaphysis, Temporal lobe dyspla... OMIM:187601
Autosomal Dominant Brachyolmia
Abnormal metaphysis morphology, Kyphoscoliosis, Increased vertebral height, Short thorax, Platysp... ORPHA:93304
Spondylometaphyseal Dysplasia, Kozlowski Type
Short tubular bones of the hand, Short greater sciatic notch, Pectus carinatum, Flat acetabular r... ORPHA:93314
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type
Narrow greater sciatic notch, Limited elbow extension, Irregular epiphyses, Dysplastic iliac wing... OMIM:608728
Multiple Epiphyseal Dysplasia, Beighton Type
Lumbar platyspondyly, Abnormal hand metaphysis morphology, Biconcave vertebral bodies, Abnormal m... ORPHA:166011
Robinow Syndrome, Autosomal Recessive 1
Hypoplastic sacrum, Radial deviation of finger, Dislocated radial head, Pectus excavatum, Broad t... OMIM:268310
Cerebellofaciodental Syndrome
Hypoplasia of the pons, Hypoplasia of the midbrain OMIM:616202
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Macrocephaly, Sandal gap, Abnormal form of the vertebral bodies, Hydrocephalus, Scoliosis, Hemive... ORPHA:2180
Dyggve-Melchior-Clausen Disease
Narrow greater sciatic notch, Multicentric ossification of proximal humeral epiphyses, Cone-shape... OMIM:223800
Spondylometaphyseal Dysplasia, Kozlowski Type
Narrow greater sciatic notch, Kyphoscoliosis, Cone-shaped epiphyses of the phalanges of the hand,... OMIM:184252
Epiphyseal Dysplasia, Multiple, 7
Monkey wrench femoral neck, Vertebral wedging, Flat acetabular roof, Epiphyseal dysplasia, Hypopl... OMIM:617719
Pseudoachondroplasia
Short long bone, Short metacarpal, Kyphosis, Metaphyseal irregularity, Short distal phalanx of fi... OMIM:177170
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Abnormal clavicle morphology, Abnormal metaphysis morphology, Platyspondyly, Proximal placement o... ORPHA:93267
Smith-Mccort Dysplasia 1
Short metacarpal, Kyphosis, Iliac crest serration, Microcephaly, Metaphyseal irregularity, Genu v... OMIM:607326
Spondyloepimetaphyseal Dysplasia, Strudwick Type
Narrow greater sciatic notch, Genu valgum, Delayed pubic bone ossification, Metaphyseal dappling,... OMIM:184250
1P36 Deletion Syndrome
Clinodactyly of the 5th finger, 11 pairs of ribs, Patent ductus arteriosus, Delayed cranial sutur... ORPHA:1606
Spondylometaphyseal Dysplasia, X-Linked
Short finger, Pectus carinatum, Hyperextensibility of the finger joints, Kyphosis, Thoracolumbar ... OMIM:313420
Cole-Carpenter Syndrome 2
Lambdoidal craniosynostosis, Macrocephaly, Platyspondyly, Hydrocephalus, Narrow iliac wing, Thin ... OMIM:616294
Autosomal Recessive Robinow Syndrome
Abnormal hip bone morphology, Sandal gap, Pectus carinatum, Pectus excavatum, Kyphosis, Broad thu... ORPHA:1507
Spondyloepiphyseal Dysplasia Tarda, Kohn Type
Abnormal vertebral morphology, Abnormal ilium morphology, Bilateral coxa valga, Abnormality of th... ORPHA:163665
Spondyloepimetaphyseal Dysplasia, Irapa Type
Abnormal metaphysis morphology, Abnormal carpal morphology, Genu valgum, Platyspondyly, Short met... ORPHA:93351
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type
Lower-limb metaphyseal irregularity, Enlarged metaphyses, Scoliosis, Short long bone, Upper-limb ... OMIM:618728
Proximal 16P11.2 Microdeletion Syndrome
Macrocephaly, Abnormal vertebral morphology, Scoliosis, Hand polydactyly, Rib fusion, Craniosynos... ORPHA:261197
Phaver Syndrome
Butterfly vertebrae, Triphalangeal thumb, Pterygium, Abnormal form of the vertebral bodies, Abnor... ORPHA:2876
Odontochondrodysplasia 1
Biconvex vertebral bodies, Cone-shaped epiphyses of the phalanges of the hand, Pectus carinatum, ... OMIM:184260
Dysspondyloenchondromatosis
Kyphoscoliosis, Abnormal fibula morphology, Abnormal ulnar metaphysis morphology, Genu valgum, Jo... ORPHA:85198
Spondyloepiphyseal Dysplasia Tarda
Kyphoscoliosis, Limited elbow movement, Spurred metaphyses of the upper limbs, Enlarged metaphyse... ORPHA:93284
Spondyloepiphyseal Dysplasia, Stanescu Type
Kyphoscoliosis, Beaking of vertebral bodies, Internal tibial torsion, Vertebral wedging, Hypoplas... OMIM:616583
Diastrophic Dysplasia
Proximal placement of thumb, Abnormal form of the vertebral bodies, Cerebral calcification, Kypho... ORPHA:628
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Short ribs, Short long bone, Flat acetabular roof, Dumbbell-shaped long bone, Hypoplastic ischia,... OMIM:151210
Brachyolmia, Maroteaux Type
Abnormal form of the vertebral bodies, Short thorax, Scoliosis, Pectus excavatum, Platyspondyly ORPHA:93302
Cantu Syndrome
Macrocephaly, Platyspondyly, Patent ductus arteriosus, Narrow chest, Short hallux, Cuboid-shaped ... OMIM:239850
Fibrochondrogenesis 2
Bell-shaped thorax, Metaphyseal cupping, Hypoplastic pubic bone, Short long bone, Short ribs, Cup... OMIM:614524
Thanatophoric Dysplasia Type 1
Abnormal metaphysis morphology, Macrocephaly, Patent ductus arteriosus, Narrow chest, Short great... ORPHA:1860
Pontine Tegmental Cap Dysplasia
Hypoplasia of the corpus callosum, Scoliosis, Hemivertebrae, Rib fusion, Ankle clonus OMIM:614688
Spondylometaphyseal Dysplasia With Corneal Dystrophy
Beaking of vertebral bodies, Lumbar platyspondyly, Narrow chest, Increased intervertebral space, ... OMIM:618961
Kbg Syndrome
Cervical ribs, Radial deviation of finger, Clinodactyly of the 5th finger, Thoracic kyphosis, Uln... OMIM:148050
Baller-Gerold Syndrome
Limited elbow movement, Carpal bone aplasia, Optic nerve hypoplasia, Oligodactyly, Severe intraut... OMIM:218600
Joubert Syndrome 36
Molar tooth sign on MRI OMIM:618763
Mucopolysaccharidosis, Type Vii
Narrow greater sciatic notch, Acetabular dysplasia, Genu valgum, Spatulate ribs, Macrocephaly, An... OMIM:253220
Pallister-Hall Syndrome
Mesoaxial polydactyly, Hypothalamic hamartoma, Oligodactyly, Broad thumb, Umbilical hernia, Intra... ORPHA:672
Wolf-Hirschhorn Syndrome
Abnormal form of the vertebral bodies, Kyphosis, Microcephaly, Intrauterine growth retardation, H... OMIM:194190
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Abnormal thumb morphology, Triphalangeal thumb, Proximal placement of thumb, Vertebral segmentati... ORPHA:1120
Heart Defects-Limb Shortening Syndrome
Abnormal metaphysis morphology, Narrow chest, Abnormal form of the vertebral bodies, Kyphosis, Ab... ORPHA:1354
Fibrochondrogenesis 1
Narrow greater sciatic notch, Short ribs, Short long bone, Dumbbell-shaped long bone, Hypoplastic... OMIM:228520
Atelosteogenesis, Type I
Clubbing, Tibial bowing, Short metacarpal, Short humerus, Thoracic hypoplasia, Thoracic platyspon... OMIM:108720
Pyle Disease
Limited elbow extension, Genu valgum, Cubitus valgus, Scoliosis, Metaphyseal widening, Metaphysea... OMIM:265900
Achondroplasia
Narrow greater sciatic notch, Megalencephaly, Femoral bowing, Short ribs, Trident hand, Thoracic ... OMIM:100800
White Forelock With Malformations
Clinodactyly of the 5th finger, Spina bifida occulta, Finger syndactyly, Abnormal rib morphology,... ORPHA:2475
Spondylometaphyseal Dysplasia, A4 Type
Platyspondyly, Flared, irregular rib ends, Short palm, Coxa vara ORPHA:168555
Microcephalic Osteodysplastic Dysplasia, Saul-Wilson Type
Cone-shaped epiphyses of the phalanges of the hand, Irregularity of vertebral bodies, Microcephal... ORPHA:85172
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Preaxial polydactyly, Ulnar bowing, Hydrocephalus, Vertebral wedging, 2-3 toe syndactyly, Short r... OMIM:617866
Endosteal Hyperostosis, Worth Type
Diaphyseal undertubulation, Clavicular sclerosis, Sclerotic vertebral body, Abnormal form of the ... ORPHA:2790
Desbuquois Dysplasia 1
Sandal gap, Hyperlordosis, Flat acetabular roof, Kyphosis, Broad femoral neck, Bifid distal phala... OMIM:251450
Wolf-Hirschhorn Syndrome
Sacral dimple, Abnormal vertebral morphology, Hypoplastic pubic ramus, Short hallux, Abnormality ... ORPHA:280
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Hyperintensity of cerebral white matter on MRI, Macrocephaly, Sclerotic vertebral body, Bell-shap... OMIM:618476
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Abnormal fibula morphology, Aqueductal stenosis, Cerebral calcification, Tibial bowing, Bowing of... ORPHA:3035
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3
Hypoplasia of the ulna, Multiple joint dislocation, Carpal bone hypoplasia, Platyspondyly, Disloc... OMIM:618395
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Thin ribs, Short ribs, Scoliosis, Hemivertebrae, Missing ribs, Block vertebrae, Rib fusion, Short... OMIM:271520
Craniodiaphyseal Dysplasia
Diaphyseal undertubulation, Macrocephaly, Abnormal rib morphology ORPHA:1513
Desbuquois Dysplasia 2
Pectus carinatum, Short long bone, Flat acetabular roof, Pectus excavatum, Short metacarpal, Rela... OMIM:615777
Kyphomelic Dysplasia
Lateral clavicle hook, Abnormal metaphysis morphology, Narrow chest, Abnormal form of the vertebr... ORPHA:1801
Metaphyseal Chondrodysplasia, Schmid Type
Femoral bowing, Broad femoral neck, Abnormal proximal femoral metaphysis morphology, Distal tibia... OMIM:156500
Schwartz-Jampel Syndrome, Type 1
Kyphoscoliosis, Flexion contracture of toe, Pectus carinatum, Wrist flexion contracture, Umbilica... OMIM:255800
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome
Rocker bottom foot, Kyphoscoliosis, Abnormal hip bone morphology, Abnormal sternum morphology, Sh... ORPHA:457395
Osteogenesis Imperfecta, Type Ix
Platyspondyly, Pectus carinatum, Scoliosis, Pectus excavatum, Kyphosis, Short lower limbs, Wormia... OMIM:259440
Brachydactylous Dwarfism, Mseleni Type
Osteoarthritis of the elbow, Abnormality of the wrist, Hip osteoarthritis, Joint subluxation, Abn... ORPHA:2619
Greenberg Dysplasia
Short ribs, Short long bone, Short metacarpal, Hypoplastic vertebral bodies, Thoracic hypoplasia,... OMIM:215140
Osteoarthritis With Mild Chondrodysplasia
Beaking of vertebral bodies, Hip osteoarthritis, Knee osteoarthritis, Heberden's node, Irregular ... OMIM:604864
Spondyloepiphyseal Dysplasia Tarda With Mental Retardation
Platyspondyly, Anterior beaking of lumbar vertebrae, Coxa valga, Short greater sciatic notch OMIM:271620
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy
Kyphoscoliosis, Flared iliac wing, Flattened epiphysis, Wormian bones, Short finger, Small epiphy... OMIM:300232
Juberg-Hayward Syndrome
Hypoplasia of the radius, Abnormality of the wrist, Abnormal vertebral morphology, Abnormal metac... ORPHA:2319
Kniest Dysplasia
Platyspondyly, Flared metaphysis, Splayed epiphyses, Delayed epiphyseal ossification, Tibial bowi... OMIM:156550
Craniorachischisis
Sirenomelia, Anencephaly, Bifid sternum, Myelomeningocele, Spinal dysraphism, Cervical spina bifida ORPHA:63260
Spondyloepimetaphyseal Dysplasia, Missouri Type
Limited elbow extension, Platyspondyly, Small epiphyses, Ulnar bowing, Metaphyseal cupping, Flare... OMIM:602111
Greenberg Dysplasia
Narrow chest, Abnormal form of the vertebral bodies, Abnormal pelvis bone ossification, Anterior ... ORPHA:1426
Cole-Carpenter Syndrome
Abnormal metaphysis morphology, Crumpled long bones, Abnormal form of the vertebral bodies, Wormi... ORPHA:2050
Spondyloepimetaphyseal Dysplasia, Di Rocco Type
Delayed ossification of carpal bones, Irregular acetabular roof, Metaphyseal dysplasia, Platyspon... OMIM:617974
Spondyloperipheral Dysplasia-Short Ulna Syndrome
Hypoplasia of the ulna, Limited elbow extension, Type E brachydactyly, Irregular epiphyses, Delay... ORPHA:1856
Achondrogenesis Type 1B
Macrocephaly, Narrow chest, Short thorax, Abnormal rib morphology, Umbilical hernia, Short neck, ... ORPHA:93298
Acromesomelic Dysplasia 4
Sandal gap, Short metacarpal, Metaphyseal irregularity, Umbilical hernia, Prominent deltoid tuber... OMIM:619636
Cantú Syndrome
Abnormal metaphysis morphology, Macrocephaly, Platyspondyly, Patent ductus arteriosus, Narrow che... ORPHA:1517
Jeune Syndrome
Abnormal clavicle morphology, Abnormal metaphysis morphology, Narrow chest, Short thorax, Abnorma... ORPHA:474
Zttk Syndrome
Cervical ribs, Dysplastic corpus callosum, Hypoplasia of the corpus callosum, Periventricular leu... OMIM:617140
Spondyloepiphyseal Dysplasia Tarda, X-Linked
Irregular epiphyses, Barrel-shaped chest, Hip osteoarthritis, Hypoplastic iliac wing, Scoliosis, ... OMIM:313400
Spondyloepimetaphyseal Dysplasia, Shohat Type
Narrow greater sciatic notch, Bell-shaped thorax, Vertebral compression fracture, Flared metaphys... OMIM:602557
Hydrolethalus Syndrome 2
Hydrocephalus, Molar tooth sign on MRI, Anencephaly OMIM:614120
Spondyloepiphyseal Dysplasia, Kimberley Type
Platyspondyly, Genu valgum, Flat capital femoral epiphysis, Genu varum OMIM:608361
Hall-Riggs Syndrome
Platyspondyly, Scoliosis, Kyphosis, Microcephaly, Metaphyseal dysplasia, Brachydactyly, Irregular... OMIM:234250
Kniest Dysplasia
Enlarged metaphyses, Short long bone, Dumbbell-shaped long bone, Dumbbell-shaped femur, Flexion c... ORPHA:485
Multiple Epiphyseal Dysplasia, Al-Gazali Type
Molar tooth sign on MRI ORPHA:166024
Cog1-Cdg
Kyphoscoliosis, Butterfly vertebrae, Cerebellar vermis hypoplasia, Progressive microcephaly, Shor... ORPHA:263508
Meckel Syndrome 13
Occipital encephalocele, Molar tooth sign on MRI OMIM:617562
Mucopolysaccharidosis Type 4
Abnormal metaphysis morphology, Genu valgum, Macrocephaly, Platyspondyly, Joint dislocation, Shor... ORPHA:582
Odontochondrodysplasia
Abnormal metaphysis morphology, Square pelvis bone, Narrow chest, Scoliosis, Bowing of the long b... ORPHA:166272
Spondyloepiphyseal Dysplasia, Kimberley Type
Short thorax, Platyspondyly, Osteoarthritis, Abnormal epiphysis morphology ORPHA:93283
Smith-Mccort Dysplasia 2
Limited elbow extension, Genu valgum, Platyspondyly, Barrel-shaped chest, Short metatarsal, Pectu... OMIM:615222
Robinow Syndrome
Fused thoracic vertebrae, Kyphoscoliosis, Macrocephaly, Scoliosis, Hemivertebrae, Missing ribs, U... ORPHA:97360
Spondyloepimetaphyseal Dysplasia, Shohat Type
Fibular overgrowth, Squared-off platyspondyly, Abnormal vertebral morphology, Platyspondyly, Vert... ORPHA:93352
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type
Kyphoscoliosis, Multiple joint dislocation, Kyphosis, Slender metacarpals, Metaphyseal irregulari... ORPHA:93360
Spondyloperipheral Dysplasia
Cone-shaped epiphyses of the phalanges of the hand, Pectus carinatum, Flat acetabular roof, Absen... OMIM:271700
Osteogenesis Imperfecta, Type Xv
Thin ribs, Scoliosis, Hypoplasia of the pons, Schizencephaly, Platyspondyly, Cerebellar hypoplasia OMIM:615220
Cleidocranial Dysplasia
Abnormal thumb morphology, Genu valgum, Clinodactyly of the 5th finger, Abnormal metacarpal morph... ORPHA:1452
Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes
Kyphoscoliosis, Lumbar scoliosis, Lower limb undergrowth, Brachydactyly, Irregular vertebral endp... OMIM:612847
Progressive Pseudorheumatoid Dysplasia
Kyphoscoliosis, Sclerotic vertebral endplates, Platyspondyly, Arthropathy, Enlarged metacarpophal... OMIM:208230
Mesomelic Dysplasia, Kantaputra Type
Abnormal fibula morphology, Tarsal synostosis, Cubitus valgus, Clinodactyly of the 5th finger, Du... ORPHA:1836
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly
Femoral bowing, Short long bone, Relative macrocephaly, Hyperlordosis, Kyphosis, Thoracic hypopla... OMIM:618019
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus
Ivory epiphyses of the toes, Cone-shaped epiphyses of the phalanges of the hand, Hyperlordosis, M... OMIM:226980
Axial Mesodermal Dysplasia Spectrum
Abnormal form of the vertebral bodies, Hydrocephalus, Scoliosis, Vertebral segmentation defect, A... ORPHA:1834
Short-Rib Thoracic Dysplasia 12
Anencephaly, Short ribs, Short long bone, Intrauterine growth retardation, Short finger, Short th... OMIM:269860
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Abnormality of cranial sutures, Platyspondyly, Abnormal femoral neck/head morphology, Narrow ches... ORPHA:163649
Holt-Oram Syndrome
Abnormal clavicle morphology, Triphalangeal thumb, Abnormal metacarpal morphology, Patent ductus ... ORPHA:392
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Platyspondyly, Flared metaphysis, Wormian bones, Short ribs, Decreased fibular diameter, Microcep... OMIM:616897
Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant
Kyphoscoliosis, Barrel-shaped chest, Pectus carinatum, Arthritis, Hypoplasia of the odontoid proc... OMIM:184100
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly
Flared metaphysis, Short middle phalanx of the 5th finger, Multiple small vertebral fractures, Os... OMIM:156510
Spondyloepiphyseal Dysplasia Congenita
Limited elbow movement, Spinal rigidity, Short long bone, Flat acetabular roof, Abnormally ossifi... ORPHA:94068
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Hypoplasia of the corpus callosum, Megalencephaly, Macrocephaly, Narrow chest, Hydrocephalus, Tib... OMIM:616482
Poland Syndrome
Asymmetry of the thorax, Abnormal sternum morphology, Pectus carinatum, Short ribs, Kyphosis, Mic... ORPHA:2911
Osteogenesis Imperfecta, Type Xiii
Kyphoscoliosis, Limitation of knee mobility, Wide distal femoral metaphysis, Platyspondyly, Dislo... OMIM:614856
Mucopolysaccharidosis, Type Vi
Kyphoscoliosis, Cervical myelopathy, Pectus carinatum, Hypoplastic iliac wing, Flared iliac wing,... OMIM:253200
Anauxetic Dysplasia 1
Limited elbow extension, Short finger, Platyspondyly, Barrel-shaped chest, Small epiphyses, Flare... OMIM:607095
Hoxha-Aliu Syndrome
Contracture of the proximal interphalangeal joint of the 4th finger, Absent fifth metatarsal, Pec... OMIM:620662
Cornelia De Lange Syndrome 6
Hypoplasia of the corpus callosum, Clinodactyly of the 5th finger, Pectus carinatum, Scoliosis, M... OMIM:620568
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Abnormal clavicle morphology, Fused cervical vertebrae, Abnormal hip bone morphology, Hyperlordos... ORPHA:2522
Otospondylomegaepiphyseal Dysplasia
Sandal gap, Tibial bowing, Short metacarpal, Abnormally ossified vertebrae, Dumbbell-shaped femur... ORPHA:1427
Second Metatarsal-Metacarpal Syndrome
Synostosis of carpals/tarsals, Platyspondyly, Abnormal metacarpal morphology OMIM:269630
Otopalatodigital Syndrome Type 2
Myelomeningocele, Flared iliac wing, Fibular aplasia, Tarsal synostosis, Abnormal metacarpal morp... ORPHA:90652
Garg-Mishra Progeroid Syndrome
Secondary microcephaly, Narrow chest, Slender long bone, Thin ribs, Persistent open anterior font... OMIM:620601
Microcephalic Primordial Dwarfism, Toriello Type
Abnormal epiphysis morphology, Abnormal rib morphology, Microcephaly, Brachydactyly, Intrauterine... ORPHA:2643
Thin Ribs-Tubular Bones-Dysmorphism Syndrome
Macrocephaly, Slender long bone, Abnormal pelvic girdle bone morphology, Abnormal rib morphology,... ORPHA:1506
Lethal Kniest-Like Dysplasia
Abnormal ischium morphology, Macrocephaly, Narrow chest, Flared metaphysis, Short ribs, Hypoplast... ORPHA:2347
Bruck Syndrome 1
Ankle flexion contracture, Pterygium, Vertebral wedging, Pectus carinatum, Scoliosis, Elbow flexi... OMIM:259450
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Bell-shaped thorax, Narrow chest, Wide distal femoral metaphysis, Metaphyseal cupping, Delayed ep... OMIM:613320
Combined Oxidative Phosphorylation Deficiency 47
Platyspondyly, Microcephaly, Short palm, Short neck, Intrauterine growth retardation, Toe syndact... OMIM:618958
Cartilage-Hair Hypoplasia
Biconvex vertebral bodies, Abnormal hip bone morphology, Abnormal form of the vertebral bodies, P... ORPHA:175
Spondylocamptodactyly Syndrome
Platyspondyly, Camptodactyly of finger, Scoliosis ORPHA:3180
Osteogenesis Imperfecta, Type Ii
Platyspondyly, Bell-shaped thorax, Crumpled long bones, Thin ribs, Tibial bowing, Abnormal pelvic... OMIM:166210
Oculocerebrocutaneous Syndrome
Finger syndactyly, Hydrocephalus, Dandy-Walker malformation, Polymicrogyria, Missing ribs, Abnorm... ORPHA:1647
Joubert Syndrome 25
Molar tooth sign on MRI OMIM:616781
Joubert Syndrome 16
Molar tooth sign on MRI, Encephalocele OMIM:614465
Platyspondylic Dysplasia, Torrance Type
Abnormal carpal morphology, Platyspondyly, Narrow chest, Short thorax, Metaphyseal cupping, Bowin... ORPHA:85166
Spondylometaphyseal Dysplasia, Schmidt Type
Narrow greater sciatic notch, Short iliac bones, Abnormal metaphysis morphology, Abnormality of t... ORPHA:93316
Gm1-Gangliosidosis, Type Iii
Anterior beaking of lumbar vertebrae, Hypoplastic acetabulae, Scoliosis, Kyphosis, Flared iliac w... OMIM:230650
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Kyphoscoliosis, Optic nerve hypoplasia, Relative macrocephaly, Arachnodactyly, Absent thumb, Late... ORPHA:500150
Avascular Necrosis Of Femoral Head, Primary, 2
Platyspondyly, Avascular necrosis of the capital femoral epiphysis OMIM:617383
10Q22.3Q23.3 Microduplication Syndrome
Abnormal clavicle morphology, Microcephaly, Abnormal rib morphology ORPHA:276422
Joubert Syndrome 4
Molar tooth sign on MRI, Thickened superior cerebellar peduncle, Elongated superior cerebellar pe... OMIM:609583
Anauxetic Dysplasia 3
Beaking of vertebral bodies, Hip subluxation, Genu valgum, Platyspondyly, Narrow chest, Broad mid... OMIM:618853
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Multiple joint dislocation, Sandal gap, Enlarged metaphyses, Dislocated radial head, Pectus carin... OMIM:245600
Mosaic Trisomy 14
Camptodactyly of finger, Narrow chest, Short neck, Abnormal rib morphology ORPHA:1703
Pseudodiastrophic Dysplasia
Scoliosis, Phalangeal dislocation, Elbow dislocation, Platyspondyly ORPHA:85174
Joubert Syndrome 15
Molar tooth sign on MRI, Exencephaly OMIM:614464
Meckel Syndrome, Type 4
Molar tooth sign on MRI, Anencephaly, Encephalocele, Meningocele, Hydrocephalus, Intrauterine gro... OMIM:611134
Pseudodiastrophic Dysplasia
Scoliosis, Camptodactyly, Hypoplasia of the odontoid process, Tongue-like lumbar vertebral deform... OMIM:264180
Otopalatodigital Syndrome, Type Ii
Rocker bottom foot, Kyphoscoliosis, Spondylolysis, Short ribs, Femoral bowing, Pectus excavatum, ... OMIM:304120
Trisomy 1Q
Macrocephaly, Patent ductus arteriosus, Short thorax, Hydrocephalus, Abnormal rib morphology, Ara... ORPHA:261344
Thoracolaryngopelvic Dysplasia
Bell-shaped thorax, Hypoplastic iliac wing, Scoliosis, Short ribs, Irregular chondrocostal juncti... OMIM:187760
Hypophosphatasia, Infantile
Stillbirth, Unossified vertebral bodies, Metaphyseal cupping, Short ribs, Vertebral clefting, Rac... OMIM:241500
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech
Anterior scalloping of vertebral bodies, Hypoplastic iliac wing, Short long bone, Short metacarpa... OMIM:611717
Grant Syndrome
Narrow chest, Joint dislocation, Bowing of the long bones, Abnormal rib morphology, Abnormal pelv... ORPHA:2097
Dysosteosclerosis
Diaphyseal undertubulation, Clavicular sclerosis, Abnormal metaphyseal trabeculation, Narrow ches... OMIM:224300
Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant
Epiphyseal dysplasia, Platyspondyly, Enlarged epiphyses, Premature osteoarthritis OMIM:184840
Joubert Syndrome 7
Molar tooth sign on MRI, Brainstem dysplasia, Hypoplasia of the brainstem, Encephalocele OMIM:611560
3M Syndrome
Rocker bottom foot, Enlarged thorax, Hyperlordosis, Kyphosis, Hypoplastic ischia, Hypoplastic pel... ORPHA:2616
Osteogenesis Imperfecta, Type V
Anterior radial head dislocation, Platyspondyly, Vertebral wedging, Hyperextensibility of the fin... OMIM:610967
Chondroectodermal Dysplasia With Night Blindness
Fractures of the long bones, Wide humerus, Epiphyseal dysplasia, Metaphyseal dysplasia, Abnormali... ORPHA:319195
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Narrow greater sciatic notch, Stillbirth, Fibular hypoplasia, Preaxial polydactyly, Bell-shaped t... OMIM:616300
Spondylometaphyseal Dysplasia, Algerian Type
Short tubular bones of the hand, Kyphoscoliosis, Carpal bone hypoplasia, Genu valgum, Flared femo... OMIM:184253
Joubert Syndrome 18
Intrauterine growth retardation, Occipital encephalocele, Molar tooth sign on MRI OMIM:614815
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
Biconvex vertebral bodies, Pectus carinatum, Hypoplastic iliac wing, Short long bone, Tibial bowi... ORPHA:93315
Cooper-Jabs Syndrome
Proximal placement of thumb, Abnormal hip bone morphology, Scoliosis, Missing ribs, Abnormal rib ... ORPHA:1488
Acrocapitofemoral Dysplasia
Cone-shaped epiphyses of the phalanges of the hand, Pectus carinatum, Delayed ossification of car... OMIM:607778
Mucopolysaccharidosis, Type X
Beaking of vertebral bodies, Genu valgum, Spatulate ribs, Broad clavicles, Scoliosis, Hyperlordos... OMIM:619698
Bent Bone Dysplasia Syndrome 2
Butterfly vertebrae, Platyspondyly, Ulnar bowing, Bowed humerus, Hypoplastic iliac wing, Thin rib... OMIM:620076
Cerebrocostomandibular Syndrome
Clinodactyly of the 5th finger, Bell-shaped thorax, Hydranencephaly, Meningocele, Cerebral calcif... ORPHA:1393
ERI1-related disease
Limited elbow extension, Increased vertebral height, Clinodactyly of the 5th finger, Platyspondyl... OMIM:608739
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Kyphoscoliosis, Multiple joint dislocation, Pectus carinatum, Pectus excavatum, Arachnodactyly, S... ORPHA:536467
Vacterl/Vater Association
Occipital encephalocele, Anencephaly, Abnormal intervertebral disk morphology, Finger syndactyly,... ORPHA:887
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3
Kyphoscoliosis, Platyspondyly, Flat capital femoral epiphysis, Flared metaphysis, Dislocated radi... OMIM:612350
Stickler Syndrome, Type Iv
Genu valgum, Flat capital femoral epiphysis, Intervertebral space narrowing, Hypoplastic iliac wi... OMIM:614134
Coach Syndrome 2
Hydrocephalus, Molar tooth sign on MRI OMIM:619111
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type
Pectus carinatum, Triangular shaped distal phalanges of the hand, Short ribs, Short long bone, Pe... OMIM:271665
Shprintzen-Goldberg Craniosynostosis Syndrome
Lateral clavicle hook, Genu valgum, Dislocated radial head, Pectus carinatum, Thin ribs, Genu rec... OMIM:182212
Osteogenesis Imperfecta, Type Xxi
Platyspondyly, Barrel-shaped chest, Bell-shaped thorax, Scoliosis, Pectus excavatum, Bowing of th... OMIM:619131
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome
Aplasia/Hypoplasia of fingers, Clinodactyly of the 5th finger, Pectus carinatum, Postaxial hand p... ORPHA:3082
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Enlarged metaphyses, Femoral bowing, Bifid first metacarpal, Short metacarpal, Microcephaly, Shor... OMIM:210710
Opsismodysplasia
Macrocephaly, Bell-shaped thorax, Narrow chest, Metaphyseal cupping, Hypoplastic pubic bone, Scol... OMIM:258480
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Narrow greater sciatic notch, Platyspondyly, Flared metaphysis, Scoliosis, Short long bone, Metap... ORPHA:85167
Joubert Syndrome 40
Molar tooth sign on MRI OMIM:619582
Spondyloepimetaphyseal Dysplasia, Aggrecan Type
Short finger, Irregular epiphyses, Barrel-shaped chest, Relative macrocephaly, Broad thumb, Metap... OMIM:612813
Spondyloepiphyseal Dysplasia, Maroteaux Type
Kyphoscoliosis, Genu valgum, Pectus carinatum, Short palm, Shield chest, Atlantoaxial instability... OMIM:184095
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive
Flattened metacarpal heads, Hip osteoarthritis, Flattened metatarsal heads, Osteoarthritis, Platy... OMIM:271600
Brachyolmia Type 3
Radial deviation of finger, Barrel-shaped chest, Scoliosis, Kyphosis, Short femoral neck, Platysp... OMIM:113500
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities
Narrow greater sciatic notch, Kyphoscoliosis, Platyspondyly, Dislocated radial head, Progressive ... OMIM:617425
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type
Abnormal vertebral morphology, Small epiphyses, Flared metaphysis, Hypoplastic pubic bone, Cervic... ORPHA:93346
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Intrauterine growth retardation, Aplasia/Hypoplasia of the cerebellum, Microcephaly, Abnormal rib... ORPHA:2772
Tetraamelia-Multiple Malformations Syndrome
Hydrocephalus, Aplasia/Hypoplasia involving the pelvis, Missing ribs, Abnormal rib morphology, Se... ORPHA:3301
Joubert Syndrome 22
Intrauterine growth retardation, Molar tooth sign on MRI OMIM:615665
Cat-Eye Syndrome
Intrauterine growth retardation, Abnormal rib morphology, Hip dysplasia ORPHA:195
Spondyloepimetaphyseal Dysplasia, Guo-Campeau Type
Proximal placement of thumb, Clinodactyly of the 2nd finger, Dislocated radial head, Pectus carin... OMIM:620663
Osteogenesis Imperfecta, Type X
Genu valgum, Fibular bowing, Narrow chest, Vertebral compression fracture, Thin ribs, Tibial bowi... OMIM:613848
Joubert Syndrome 31
Molar tooth sign on MRI OMIM:617761
Monosomy 9Q22.3
Polydactyly, Macrocephaly, Abnormality of the vertebral column, Hydrocephalus, Calcification of f... ORPHA:77301
Campomelic Dysplasia
Kyphoscoliosis, Absent sternal ossification, Dislocated radial head, Pectus carinatum, Hypoplasti... OMIM:114290
Saul-Wilson Syndrome
Platyspondyly, Short metatarsal, Madelung deformity, Cone-shaped epiphyses of the phalanges of th... OMIM:618150
Trisomy 20P
Platyspondyly, Abnormal hip bone morphology, Abnormal form of the vertebral bodies, Finger syndac... ORPHA:261318
Spondylometaphyseal Dysplasia, Sedaghatian Type
Narrow greater sciatic notch, Cone-shaped epiphyses of the phalanges of the hand, Short ribs, Sho... OMIM:250220
Slc39A13-Related Spondylodysplastic Ehlers-Danlos Syndrome
Abnormal metaphysis morphology, Platyspondyly, Flat capital femoral epiphysis, Broad femoral neck... ORPHA:157965
Autosomal Recessive Stickler Syndrome
Genu valgum, Platyspondyly, Epiphyseal dysplasia, Irregular vertebral endplates, Abnormal epiphys... ORPHA:250984
Joubert Syndrome 9
Molar tooth sign on MRI, Encephalocele OMIM:612285
Hyperparathyroidism, Transient Neonatal
Patent ductus arteriosus, Narrow chest, Thin ribs, Short ribs, Fractured rib, Undulate ribs, Femo... OMIM:618188
Orofaciodigital Syndrome Xv
Molar tooth sign on MRI OMIM:617127
Gm1 Gangliosidosis Type 1
Acetabular dysplasia, Beaking of vertebral bodies T12-L3, Spatulate ribs, Platyspondyly, Pectus c... ORPHA:79255
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
Kyphoscoliosis, Broad distal phalanx of finger, Dislocated radial head, Short long bone, Large il... OMIM:271640
Alagille Syndrome
Hypoplasia of the ulna, Clinodactyly of the 5th finger, Spina bifida occulta, Abnormal form of th... ORPHA:52
Melnick-Needles Syndrome
Abnormal metaphysis morphology, Osteolytic defects of the phalanges of the hand, Narrow chest, Co... ORPHA:2484
Rhizomelic Dysplasia, Ain-Naz Type
Wide distal femoral metaphysis, Hypoplasia of the femoral head, Short humerus, Short femoral neck... OMIM:619598
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Narrow greater sciatic notch, Short finger, Flared metaphysis, Metaphyseal cupping, Scoliosis, Fe... OMIM:608940
Lowry-Wood Syndrome
Irregular epiphyses, Aplasia/Hypoplasia of the corpus callosum, Platyspondyly, Dislocated radial ... ORPHA:1824
Alpha-Mannosidosis, Infantile Form
Talipes valgus, Genu valgum, Macrocephaly, Pectus carinatum, Bilateral coxa valga, Subcortical ce... ORPHA:309282
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness
Short long bone, Short ribs, Cupped ribs, Metaphyseal irregularity, Genu varum, Metaphyseal cuppi... OMIM:250420
Stickler Syndrome, Type I
Beaking of vertebral bodies, Abnormal femoral epiphysis morphology, Spondylolisthesis, Arthritis,... OMIM:108300
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome
Abnormal form of the vertebral bodies, Hemivertebrae, Abnormal rib morphology, Abnormality of the... ORPHA:2234
Lenz-Majewski Hyperostotic Dwarfism
Broad clavicles, Relative macrocephaly, Microcephaly, Syndactyly, Intrauterine growth retardation... OMIM:151050
Joubert Syndrome 33
Molar tooth sign on MRI OMIM:617767
Renpenning Syndrome
Abnormal thumb morphology, Clinodactyly of the 5th finger, Pectus excavatum, Abnormal rib morphol... ORPHA:3242
Sillence Syndrome
Large iliac wing, Flat acetabular roof, Broad metatarsal, Broad thumb, Abnormal morphology of the... ORPHA:3168
Joubert Syndrome 20
Molar tooth sign on MRI OMIM:614970
Achondrogenesis, Type Ia
Hypoplasia of the radius, Stillbirth, Hypoplastic sacrum, Bell-shaped thorax, Barrel-shaped chest... OMIM:200600
Lethal Congenital Contracture Syndrome Type 1
Abnormal hip bone morphology, Abnormal form of the vertebral bodies, Slender long bone, Abnormal ... ORPHA:1486
Spondyloepimetaphyseal Dysplasia, X-Linked
Cone-shaped epiphyses of the phalanges of the hand, Pectus carinatum, Delayed ossification of car... OMIM:300106
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive
Beaking of vertebral bodies, Large tarsal bones, Flared metaphysis, Short long bone, Aplasia/Hypo... OMIM:215150
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2
Short neck, Vertebral segmentation defect, Abnormal rib morphology ORPHA:2578
Spondylometaphyseal Dysplasia, Pagnamenta Type
Short 4th metacarpal, Platyspondyly, Thoracic kyphosis, Femoral bowing, Broad thumb, Wormian bone... OMIM:619638
Cardiospondylocarpofacial Syndrome
Cone-shaped epiphysis, Tarsal synostosis, Fused cervical vertebrae, Scoliosis, Fusion of middle e... OMIM:157800
Schwartz-Jampel Syndrome
Spinal rigidity, Flexion contracture of toe, Pectus carinatum, Hyperlordosis, Pectus excavatum, W... ORPHA:800
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type
Limited elbow extension, Carpal bone hypoplasia, Small epiphyses, Scoliosis, Femoral bowing, Shor... OMIM:616723
Geroderma Osteodysplastica
Beaking of vertebral bodies, Platyspondyly, Vertebral compression fracture, Abnormal form of the ... ORPHA:2078
Multiple Synostoses Syndrome 1
Radial deviation of finger, Proximal/middle symphalangism of 5th toe, Dislocated radial head, Pec... OMIM:186500
Trisomy 18
Abnormal hip bone morphology, Anencephaly, Postaxial hand polydactyly, Abnormal rib morphology, S... ORPHA:3380
Atelosteogenesis Type I
Abnormal fibula morphology, Absent or minimally ossified vertebral bodies, Joint dislocation, Nar... ORPHA:1190
Joubert Syndrome 28
Molar tooth sign on MRI OMIM:617121
Hurler Syndrome
Abnormal clavicle morphology, Abnormal vertebral morphology, Abnormal diaphysis morphology, Abnor... ORPHA:93473
Rhizomelic Dysplasia, Patterson-Lowry Type
Short metatarsal, Deformed humeral heads, Short metacarpal, Coxa vara, Short humerus, Brachydacty... OMIM:601438
Osteogenesis Imperfecta, Type Xxiii
Genu valgum, Broad femoral head, Severe platyspondyly, Shallow acetabular fossae, Bowing of the l... OMIM:620639
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Clinodactyly of the 5th finger, Abnormal form of the vertebral bodies, Hemivertebrae, Missing rib... ORPHA:2759
Osteogenesis Imperfecta, Type Xvi
Platyspondyly, Narrow chest, Vertebral compression fracture, Angulated humerus, Short long bone, ... OMIM:616229
Spondylometaphyseal Dysplasia, Sedaghatian Type
Platyspondyly, Narrow chest, Short metacarpal, Abnormal rib morphology, Iliac crest serration, Sh... ORPHA:93317
Acro-Renal-Mandibular Syndrome
Abnormal clavicle morphology, Hypoplasia of the radius, Hypoplasia of the ulna, Butterfly vertebr... ORPHA:958
Craniosynostosis, Herrmann-Opitz Type
Finger syndactyly, Split hand, Abnormal rib morphology, Brachydactyly, Intrauterine growth retard... ORPHA:2145
Fibrochondrogenesis
Abnormal metaphysis morphology, Abnormal diaphysis morphology, Bell-shaped thorax, Narrow chest, ... ORPHA:2021
Stickler Syndrome Type 1
Abnormal vertebral epiphysis morphology, Platyspondyly, Osteoarthritis, Abnormal epiphysis morpho... ORPHA:90653
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Narrow greater sciatic notch, Limited elbow movement, Enlarged metaphyses, Short metacarpal, Kyph... ORPHA:508533
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Platyspondyly, Kyphosis ORPHA:2786
Cenani-Lenz Syndrome
Hypoplasia of the ulna, Hypoplasia of the radius, Abnormal metacarpal morphology, Abnormal form o... ORPHA:3258
Brachyolmia Type 2
Platyspondyly OMIM:613678
Spondylodysplastic Ehlers-Danlos Syndrome
Kyphoscoliosis, Subluxation of the small joints of the hand, Pectus carinatum, Abnormal femoral h... ORPHA:536471
Morquio Syndrome C
Platyspondyly OMIM:252300
Spondyloepimetaphyseal Dysplasia, Sponastrime Type
Limited elbow extension, Kyphoscoliosis, Genu valgum, Flat capital femoral epiphysis, Small epiph... OMIM:271510
Joubert Syndrome 27
Molar tooth sign on MRI OMIM:617120
Osteogenesis Imperfecta, Type Xviii
Vertebral compression fracture, Thin ribs, Femoral bowing, Bowing of the long bones, Biconcave ve... OMIM:617952
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Lateral clavicle hook, Platyspondyly, Disproportionate shortening of the tibia, Narrow chest, Pos... OMIM:263520
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies
Hypoplastic distal segments of scapulae, Pectus excavatum, Abnormal rib morphology OMIM:602196
Kyphomelic Dysplasia
Lateral clavicle hook, Ulnar bowing, Pterygium, Bowed humerus, Flared metaphysis, Dumbbell-shaped... OMIM:211350
Bruck Syndrome 2
Platyspondyly, Pterygium, Pectus carinatum, Femoral bowing, Elbow flexion contracture, Knee flexi... OMIM:609220
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome
Clinodactyly of the 5th finger, Abnormal hip bone morphology, Pectus carinatum, Hyperlordosis, Ab... ORPHA:3068
Osteogenesis Imperfecta
Abnormal femur morphology, Abnormal hip bone morphology, Abnormal form of the vertebral bodies, D... ORPHA:666
Trisomy 13
Narrow chest, Scoliosis, Postaxial hand polydactyly, Abnormal pelvic girdle bone morphology, Abno... ORPHA:3378
Gracile Bone Dysplasia
Slender long bone, Hydrocephalus, Flared metaphysis, Thin ribs, Brachydactyly OMIM:602361
Coach Syndrome 3
Molar tooth sign on MRI OMIM:619113
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Rocker bottom foot, Proximal tibial and fibular fusion, Femoral bowing, Short metacarpal, Arachno... ORPHA:95699
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Hypoplasia of the corpus callosum, Abnormal sternum morphology, Short ribs, Postaxial hand polyda... ORPHA:2519
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Aplasia/hypoplasia of the femur, Carpal bone aplasia, Pectus carinatum, Broad clavicles, Femoral ... OMIM:276820
Klippel-Feil Syndrome 1, Autosomal Dominant
Cervical C2/C3 vertebral fusion, Scoliosis, Abnormal rib morphology, Sprengel anomaly, Short neck... OMIM:118100
Hypophosphatasia
Abnormal metaphysis morphology, Narrow chest, Bowing of the long bones, Abnormal rib morphology, ... ORPHA:436
Prune Belly Syndrome
Scoliosis, Vertebral segmentation defect, Pectus excavatum, Abnormal rib morphology, Congenital h... ORPHA:2970
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2
Kyphoscoliosis, Flared metaphysis, Dysplasia of the femoral head, Pectus excavatum, Bowing of the... OMIM:615349
Fetal Akinesia Deformation Sequence 1
Rocker bottom foot, Short umbilical cord, Stillbirth, Small placenta, Slender long bone, Hydrocep... OMIM:208150
Joubert Syndrome 32
Molar tooth sign on MRI OMIM:617757
Spondyloenchondrodysplasia With Immune Dysregulation
Short iliac bones, Kyphoscoliosis, Platyspondyly, Barrel-shaped chest, Metaphyseal sclerosis, Cer... OMIM:607944
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Kyphoscoliosis, Small proximal tibial epiphyses, Broad distal phalanx of finger, Hypoplastic ilia... ORPHA:96334
Spondyloenchondrodysplasia
Abnormal lateral ventricle morphology, Decreased response to growth hormone stimulation test, Pla... ORPHA:1855
Hall-Riggs Syndrome
Abnormal metaphysis morphology, Platyspondyly, Scoliosis, Microcephaly, Brachydactyly, Abnormal e... ORPHA:2107
Osteopathia Striata With Cranial Sclerosis
Fibular aplasia, Fibular hypoplasia, Macrocephaly, Flexion contracture of toe, Clinodactyly of th... OMIM:300373
Vater/Vacterl Association
Occipital encephalocele, Hypoplasia of the radius, Preaxial polydactyly, Triphalangeal thumb, Abs... OMIM:192350
Osteogenesis Imperfecta, Type Viii
Platyspondyly, Barrel-shaped chest, Vertebral compression fracture, Slender long bone, Femoral re... OMIM:610915
Gm1-Gangliosidosis, Type Ii
Cerebral atrophy, Beaking of vertebral bodies, Platyspondyly, Scoliosis, Hypoplastic vertebral bo... OMIM:230600
Meckel Syndrome, Type 10
Occipital encephalocele, Molar tooth sign on MRI, Anencephaly OMIM:614175
Slc35A2-Cdg
Intrauterine growth retardation, Atrophy/Degeneration affecting the brainstem, Abnormal midbrain ... ORPHA:356961
Adult Krabbe Disease
Abnormal midbrain morphology, Abnormal medulla oblongata morphology, Abnormal pons morphology ORPHA:206448
Dental Anomalies And Short Stature
Intervertebral space narrowing, Scoliosis, Narrow vertebral interpedicular distance, Platyspondyl... OMIM:601216
Geroderma Osteodysplasticum
Kyphoscoliosis, Beaking of vertebral bodies, Platyspondyly, Vertebral compression fracture, Hyper... OMIM:231070
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type
Macrocephaly, Platyspondyly, Shortening of all phalanges of fingers, Wormian bones, Shortening of... OMIM:601356
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome
Platyspondyly, Cone-shaped epiphysis ORPHA:71267
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome
Platyspondyly, Abnormal intervertebral disk morphology, Osteoarthritis ORPHA:1345
Joubert Syndrome 30
Molar tooth sign on MRI OMIM:617622
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Lateral clavicle hook, Hypoplasia of the ulna, Fibular hypoplasia, Preaxial polydactyly, Scoliosi... OMIM:613091
Czech Dysplasia
Short metatarsal, Flat capital femoral epiphysis, Intervertebral space narrowing, Narrow iliac wi... OMIM:609162
Joubert Syndrome 35
Molar tooth sign on MRI, Elongated superior cerebellar peduncle OMIM:618161
Joubert Syndrome 14
Molar tooth sign on MRI, Encephalocele, Meningocele, Hydrocephalus, Hypoplasia of the brainstem OMIM:614424
Pagod Syndrome
Abnormal clavicle morphology, Encephalocele, Meningocele, Abnormal rib morphology, Spina bifida, ... ORPHA:991
Joubert Syndrome 6
Molar tooth sign on MRI, Thickened superior cerebellar peduncle, Hypoplasia of the brainstem, Elo... OMIM:610688
Gm1 Gangliosidosis
Abnormal metaphysis morphology, Abnormal diaphysis morphology, Platyspondyly, Abnormal form of th... ORPHA:354
Holzgreve Syndrome
Abnormal metacarpal morphology, Abnormally ossified vertebrae, Abnormal rib morphology, Hand poly... ORPHA:2167
Ollier Disease
Abnormal metaphysis morphology, Platyspondyly ORPHA:296
Joubert Syndrome 3
Molar tooth sign on MRI, Elongated superior cerebellar peduncle OMIM:608629
Camptodactyly Syndrome, Guadalajara Type 3
Spina bifida occulta, Abnormal rib morphology, Broad femoral neck, Thickened cortex of long bones... ORPHA:488434
Dysosteosclerosis
Abnormal metaphysis morphology, Macrocephaly, Cerebral calcification, Hypoplastic vertebral bodie... ORPHA:1782
Joubert Syndrome 2
Molar tooth sign on MRI, Encephalocele, Elongated superior cerebellar peduncle, Hydrocephalus, Br... OMIM:608091
Joubert Syndrome 10
Molar tooth sign on MRI OMIM:300804
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Butterfly vertebrae, Neonatal death, Posterior rib fusion, Patent ductus arteriosus OMIM:265380
Occipital Horn Syndrome
Pectus carinatum, Cerebral calcification, Large iliac wing, Pectus excavatum, Absent tibia, Kypho... ORPHA:198
Myhre Syndrome
Short finger, Radial deviation of finger, Macrocephaly, Platyspondyly, Enlarged vertebral pedicle... OMIM:139210
Bruck Syndrome
Platyspondyly, Pterygium, Scoliosis, Bowing of the long bones, Kyphosis, Wormian bones ORPHA:2771
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Sprengel anomaly, Abnormal rib morphology, Abnormality of the vertebral column OMIM:601076
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe
Supraumbilical raphe, Bifid sternum OMIM:140850
Aprosencephaly Syndrome
Aprosencephaly, Anencephaly, Finger aplasia OMIM:207770
Spondylo-Ocular Syndrome
Platyspondyly, Short neck, Thoracic kyphosis, Abnormal intervertebral disk morphology ORPHA:85194
Schimke Immunoosseous Dysplasia
Lateral displacement of the femoral head, Platyspondyly, Thoracic kyphosis, Hypoplasia of the cap... OMIM:242900
Al-Gazali-Bakalinova Syndrome
Molar tooth sign on MRI OMIM:607131
Dextrocardia
Hydrocephalus, Abnormal rib morphology, Congenital hip dislocation ORPHA:1666
Spondyloepimetaphyseal Dysplasia, Genevieve Type
Flat acetabular roof, Microcephaly, Perisylvian polymicrogyria, Metaphyseal irregularity, Long fi... OMIM:610442
Occipital Horn Syndrome
Limited elbow extension, Genu valgum, Narrow chest, Pectus carinatum, Broad clavicles, Short clav... OMIM:304150
Blomstrand Lethal Chondrodysplasia
Platyspondyly, Narrow chest, Flared metaphysis, Short thorax, Broad clavicles, Metaphyseal cuppin... ORPHA:50945
Mosaic Trisomy 8
Clinodactyly of the 5th finger, Narrow chest, Scoliosis, Vertebral segmentation defect, Abnormal ... ORPHA:96061
Smith-Lemli-Opitz Syndrome
Proximal placement of thumb, Abnormal form of the vertebral bodies, Kyphosis, Microcephaly, Intra... ORPHA:818
Schimke Immuno-Osseous Dysplasia
Ischemic stroke, Platyspondyly, Abnormal femoral head morphology, Hypoplastic pelvis, Ovoid verte... ORPHA:1830
Laryngotracheoesophageal Cleft Type 4
Abnormal rib morphology, Abnormal form of the vertebral bodies ORPHA:93941
Joubert Syndrome With Oculorenal Defect
Hydrocephalus, Molar tooth sign on MRI, Encephalocele ORPHA:2318
Osteoglophonic Dysplasia
Broad metacarpals, Platyspondyly, Short metatarsal, Short metacarpal, Pectus excavatum, Broad met... OMIM:166250
Joubert Syndrome 8
Occipital encephalocele, Molar tooth sign on MRI OMIM:612291
Antley-Bixler Syndrome
Narrow chest, Delayed cranial suture closure, Femoral bowing, Abnormal rib morphology, Arachnodac... ORPHA:83
Joubert Syndrome With Renal Defect
Hydrocephalus, Molar tooth sign on MRI, Encephalocele ORPHA:220497
Mucopolysaccharidosis Type 3
Abnormal clavicle morphology, Genu valgum, Macrocephaly, Abnormal form of the vertebral bodies, H... ORPHA:581
Multiple Pterygium-Malignant Hyperthermia Syndrome
Finger syndactyly, Scoliosis, Pectus excavatum, Abnormal rib morphology, Prominent metopic ridge,... ORPHA:2215
Osteopetrosis, Autosomal Recessive 7
Increased head circumference, Femur fracture, Hydrocephalus, Lateral ventricle dilatation, Multip... OMIM:612301
Marshall Syndrome
Small distal femoral epiphysis, Small proximal tibial epiphyses, Clinodactyly of the 5th finger, ... OMIM:154780
Joubert Syndrome 37
Molar tooth sign on MRI OMIM:619185
Sponastrime Dysplasia
Kyphoscoliosis, Short long bone, Relative macrocephaly, Biconcave vertebral bodies, Metaphyseal i... ORPHA:93357
Thoracic Outlet Syndrome
Abnormal rib morphology ORPHA:97330
Charge Syndrome
Polydactyly, Aqueductal stenosis, Abnormal tibia morphology, Clinodactyly of the 5th finger, Ante... ORPHA:138
Bone Fragility With Contractures, Arterial Rupture, And Deafness
Platyspondyly, Scoliosis, Elbow flexion contracture, Porencephalic cyst, Hypoplasia of the capita... OMIM:612394
Fibrous Dysplasia Of Bone
Abnormal clavicle morphology, Abnormal femur morphology, Abnormal tibia morphology, Abnormal lumb... ORPHA:249
Campomelia, Cumming Type
Bowing of the long bones, Abnormal rib morphology, Abnormally ossified vertebrae, Brachydactyly, ... ORPHA:1318
Fontaine Progeroid Syndrome
Hypoplasia of the corpus callosum, Cerebellar hypoplasia, Patent ductus arteriosus, Platyspondyly... OMIM:612289
Joubert Syndrome With Ocular Defect
Hydrocephalus, Molar tooth sign on MRI, Encephalocele ORPHA:220493
Joubert Syndrome 17
Molar tooth sign on MRI OMIM:614615
Coach Syndrome 1
Occipital encephalocele, Molar tooth sign on MRI, Encephalocele OMIM:216360
Coffin-Lowry Syndrome
Lumbar kyphosis, Bifid sternum, Pectus carinatum, Hyperextensibility of the finger joints, Narrow... OMIM:303600
Familial Osteodysplasia, Anderson Type
Aplasia/hypoplasia of the femur, Clinodactyly of the 5th finger, Abnormal form of the vertebral b... ORPHA:2769
Myhre Syndrome
Abnormal metaphysis morphology, Platyspondyly, Large iliac wing, Abnormal epiphysis morphology, A... ORPHA:2588
Aspergillosis
Abnormal long bone morphology, Abnormal rib morphology, Abnormality of the vertebral column ORPHA:1163
Infantile Liver Failure Syndrome 3
Beaking of vertebral bodies, Hypoplastic vertebral bodies, Abnormality of the epiphysis of the fe... OMIM:618641
Osteoporosis-Pseudoglioma Syndrome
Kyphoscoliosis, Barrel-shaped chest, Vertebral compression fracture, Scoliosis, Tibial bowing, Ky... OMIM:259770
Simpson-Golabi-Behmel Syndrome
Macrocephaly, Clinodactyly of the 5th finger, Short 2nd finger, Finger syndactyly, Dandy-Walker m... ORPHA:373
Joubert Syndrome 1
Molar tooth sign on MRI, Elongated superior cerebellar peduncle, Brainstem dysplasia, Occipital m... OMIM:213300
Autosomal Recessive Malignant Osteopetrosis
Abnormal metaphysis morphology, Macrocephaly, Narrow chest, Hydrocephalus, Bowing of the long bon... ORPHA:667
Craniotubular Dysplasia, Ikegawa Type
Diaphyseal dysplasia, Macrocephaly, Increased intervertebral space, Broad ischia, Broad femoral n... OMIM:619727
Pyknoachondrogenesis
Short iliac bones, Increased head circumference, Short thorax, Abnormal iliac wing morphology, En... ORPHA:3003
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Molar tooth sign on MRI, Anencephaly, Hydrocephalus, Occipital meningocele, Hypoplasia of the bra... OMIM:616546
Calvarial Doughnut Lesions With Bone Fragility
Platyspondyly, Scoliosis, Femoral bowing OMIM:126550
Geleophysic Dysplasia 1
Short long bone, Wrist flexion contracture, Pectus excavatum, Irregular capital femoral epiphysis... OMIM:231050
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria
Metaphyseal enchondromatosis, Abnormal globus pallidus morphology, Metaphyseal irregularity, Intr... ORPHA:99646
Joubert Syndrome 39
Occipital encephalocele, Molar tooth sign on MRI OMIM:619562
Spondyloocular Syndrome
Femur fracture, Vertebral compression fracture, Pectus carinatum, Shield chest, Arachnodactyly, L... OMIM:605822
Simpson-Golabi-Behmel Syndrome, Type 1
Narrow greater sciatic notch, Short greater sciatic notch, Pectus carinatum, Short ribs, Pectus e... OMIM:312870
Radio-Renal Syndrome
Hypoplasia of the radius, Abnormal form of the vertebral bodies, Abnormal rib morphology, Short p... ORPHA:3015
Duplication Of The Pituitary Gland
Encephalocele, Abnormal midbrain morphology ORPHA:314621
Japanese Encephalitis
Abnormal midbrain morphology, Abnormal substantia nigra morphology, Abnormal pons morphology ORPHA:79139
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1
Kyphoscoliosis, Joint dislocation, Thin ribs, Congenital hip dislocation, Arachnodactyly, Protrus... OMIM:225400
Orofaciodigital Syndrome Xvi
Molar tooth sign on MRI OMIM:617563
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Abnormal pelvic girdle bone morphology, Anterior rib cupping, Platyspondyly, Growth arrest lines,... OMIM:102700
Cerebellar-Facial-Dental Syndrome
Hypoplasia of the pons, Hypoplasia of the brainstem, Abnormal midbrain morphology ORPHA:444072
Autosomal Dominant Popliteal Pterygium Syndrome
Popliteal pterygium, Finger syndactyly, Scoliosis, Split hand, Abnormal rib morphology, Toe synda... ORPHA:1300
Charge Syndrome
Hypoplasia of the ulna, Decreased response to growth hormone stimulation test, Patent ductus arte... OMIM:214800
Osteogenesis Imperfecta, Type Xvii
Kyphoscoliosis, Thin metacarpal cortices, Vertebral compression fracture, Bowed humerus, Thin lon... OMIM:616507
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Occipital encephalocele, Molar tooth sign on MRI, Elongated superior cerebellar peduncle, Meningo... ORPHA:397715
Oculocerebrorenal Syndrome Of Lowe
Abnormal metaphysis morphology, Genu valgum, Platyspondyly, Arthritis, Scoliosis, Abnormal rib mo... ORPHA:534
Monosomy 9P
Proximal placement of thumb, Abnormality of the vertebral column, Scoliosis, Postaxial hand polyd... ORPHA:261112
Fraser Syndrome
Encephalocele, Finger syndactyly, Vertebral segmentation defect, Abnormal rib morphology, Myelome... ORPHA:2052
Ear-Patella-Short Stature Syndrome
Clinodactyly of the 5th finger, Slender long bone, Abnormal epiphysis morphology, Abnormal rib mo... ORPHA:2554
Amoebiasis Due To Free-Living Amoebae
Abnormal midbrain morphology, Abnormal brainstem MRI signal intensity, Abnormal medulla oblongata... ORPHA:68
Stickler Syndrome
Genu valgum, Abnormal diaphysis morphology, Spondylolisthesis, Joint dislocation, Abnormal form o... ORPHA:828
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia
Molar tooth sign on MRI, Hypoplasia of the brainstem OMIM:619306
Ulbright-Hodes Syndrome
Hypoplasia of the radius, Fibular aplasia, Thin ribs, Short ribs, Severe intrauterine growth reta... ORPHA:3404
Arima Syndrome
Brainstem dysplasia, Occipital meningocele, Hypoplasia of the brainstem, Molar tooth sign on MRI OMIM:243910
Joubert Syndrome 5
Occipital encephalocele, Molar tooth sign on MRI, Thickened superior cerebellar peduncle OMIM:610188
Orofaciodigital Syndrome Vi
Molar tooth sign on MRI, Occipital meningocele OMIM:277170
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Abnormal vertebral morphology, Abnormality of the vertebral column, Oligodactyly, Subcortical cer... ORPHA:2273
Odontochondrodysplasia 2 With Hearing Loss And Diabetes
Clinodactyly of the 5th finger, Cone-shaped epiphyses of the phalanges of the hand, Scoliosis, La... OMIM:619269
Joubert Syndrome 38
Molar tooth sign on MRI OMIM:619476
Orofaciodigital Syndrome Type 6
Molar tooth sign on MRI ORPHA:2754
Meckel Syndrome, Type 1
Occipital encephalocele, Molar tooth sign on MRI, Large placenta, Anencephaly, Hydrocephalus, Int... OMIM:249000
Hereditary Acrokeratotic Poikiloderma
Abnormal hip bone morphology, Abnormal metacarpal morphology, Finger syndactyly, Abnormal rib mor... ORPHA:2907
Townes-Brocks Syndrome
Abnormal vertebral morphology, Clinodactyly of the 5th finger, Triphalangeal thumb, Absent toe, A... ORPHA:857
Lowe Oculocerebrorenal Syndrome
Wrist swelling, Genu valgum, Platyspondyly, Scoliosis, Kyphosis, Camptodactyly of finger, Finger ... OMIM:309000
Short-Rib Thoracic Dysplasia 21 Without Polydactyly
Molar tooth sign on MRI OMIM:619479
Alagille Syndrome 1
Hypoplasia of the ulna, Butterfly vertebral arch, Hemivertebrae, Abnormal rib morphology, Short d... OMIM:118450
Kindler Epidermolysis Bullosa
Short 4th metacarpal, Finger syndactyly, Abnormal rib morphology, Camptodactyly of finger, Short ... ORPHA:2908
Aspartylglucosaminuria
Cerebral atrophy, Beaking of vertebral bodies, Spondylolysis, Spondylolisthesis, Scoliosis, Kypho... OMIM:208400
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Abnormal midbrain morphology ORPHA:293987
Orofaciodigital Syndrome Xiv
Occipital encephalocele, Molar tooth sign on MRI, Holoprosencephaly OMIM:615948
Wilson Disease
Face of the giant panda sign OMIM:277900
Orofaciodigital Syndrome Type 14
Molar tooth sign on MRI ORPHA:434179
Pmm2-Cdg
Kyphoscoliosis, Cerebellar vermis hypoplasia, Dandy-Walker malformation, Long fingers, Elevated c... ORPHA:79318

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 Ssbp3

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 Ssbp3.

No publications found that use IMPC mice or data for Ssbp3.

Order Mouse and ES Cells

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MGI Allele Allele Type Produced
Ssbp3tm210400(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Ssbp3tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Ssbp3tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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