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

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

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
Hyperlordosis, Short thorax, Vertebral segmentation defect, Missing ribs, Posterior rib fusion, M... ORPHA:1797
Autosomal Recessive Spondylocostal Dysostosis
Meningocele, Camptodactyly of finger, Short thorax, Finger syndactyly, Kyphosis, Vertebral segmen... ORPHA:2311
Basal Cell Nevus Syndrome 1
Bifid ribs, Polydactyly, Vertebral fusion, Abnormal sternum morphology, Short 4th metacarpal, Sho... OMIM:109400
Spondylocostal Dysostosis 4, Autosomal Recessive
Bell-shaped thorax, Vertebral fusion, Short thorax, Myelomeningocele, Block vertebrae, Vertebral ... OMIM:613686
Becker Nevus Syndrome
Kyphosis, Supernumerary ribs, Pectus excavatum, Spina bifida occulta, Abnormality of tibia morpho... ORPHA:64755
Aicardi Syndrome
Bifid ribs, Dilated third ventricle, Cavum septum pellucidum, Lateral ventricle dilatation, Block... OMIM:304050
Spondylocostal Dysostosis 3, Autosomal Recessive
Kyphosis, Vertebral segmentation defect, Hypoplasia of the odontoid process, Contracture of the p... OMIM:609813
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Abnormality of the elbow, Finger syndactyly, Clinodactyly of the 5th finger, Radioulnar synostosi... ORPHA:3268
Spondylocostal Dysostosis 1, Autosomal Recessive
Back pain, Vertebral fusion, Block vertebrae, Vertebral segmentation defect, Kyphoscoliosis, Shor... OMIM:277300
Spondylocostal Dysostosis 2, Autosomal Recessive
Vertebral clefting, Vertebral segmentation defect, Short neck, Rib fusion, Hemivertebrae OMIM:608681
Cerebrofaciothoracic Dysplasia
Bifid ribs, Cerebral cortical atrophy, Vertebral segmentation defect, Macrocephaly, Sprengel anom... ORPHA:1394
Femoral-Facial Syndrome
Aplasia/Hypoplasia of the tibia, Aplasia/Hypoplasia of the corpus callosum, Coxa vara, Hip dyspla... ORPHA:1988
Spondylometaphyseal Dysplasia, Type A4
Metaphyseal irregularity, Osteoporotic tarsals, Sclerotic humeral metaphysis, Coxa valga, Metaphy... OMIM:609052
Poland Syndrome
Unilateral oligodactyly, Short ribs, Unilateral brachydactyly, Syndactyly, Rib fusion, Sprengel a... OMIM:173800
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
Pectus excavatum, Overlapping toe, Short neck, Postaxial hand polydactyly, Beaking of vertebral b... OMIM:213980
Septopreoptic Holoprosencephaly
Ethmoidal encephalocele, Perisylvian polymicrogyria, Anterior hypopituitarism, Abnormal vertebral... ORPHA:280195
Spondylocostal Dysostosis 5
Vertebral fusion, Low back pain, Supernumerary ribs, Missing ribs, Posterior rib fusion, Butterfl... OMIM:122600
Metatropic Dysplasia
Flared iliac wing, Long coccyx, Enlarged joints, Narrow greater sciatic notch, Metaphyseal irregu... OMIM:156530
Congenital Disorder Of Glycosylation, Type Iig
Lateral ventricle dilatation, Camptodactyly, Butterfly vertebrae, Posterior rib gap, Short neck, ... OMIM:611209
Thanatophoric Dysplasia, Type I
Metaphyseal irregularity, Thoracic hypoplasia, Hypoplastic ilia, Severe platyspondyly, Short ribs... OMIM:187600
Metatropic Dysplasia
Camptodactyly of finger, Kyphosis, Narrow chest, Hydrocephalus, Halberd-shaped pelvis, Clinodacty... ORPHA:2635
Brachyolmia Type 1, Hobaek Type
Intervertebral space narrowing, Back pain, Short femoral neck, Kyphosis, Short long bone, Squared... OMIM:271530
Aicardi Syndrome
Bifid ribs, Aplasia/Hypoplasia of the cerebellum, Small hand, Block vertebrae, Hip dysplasia, Sup... ORPHA:50
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Hypoplastic iliac wing, 11 pairs of ribs, Metaphyseal cupping, Hydrocephalus, Macrocephaly, Platy... OMIM:300863
Joubert Syndrome 13
Molar tooth sign on MRI OMIM:614173
Autosomal Recessive Multiple Pterygium Syndrome
Camptodactyly of finger, Symphalangism affecting the phalanges of the hand, Abnormal sternum morp... ORPHA:2990
Neurogenic Thoracic Outlet Syndrome
Abnormal rib morphology ORPHA:100073
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome
Abnormal rib morphology, Microcephaly ORPHA:2435
Aprosencephaly And Cerebellar Dysgenesis
Aprosencephaly, Absent mesencephalon OMIM:601374
Isolated Klippel-Feil Syndrome
Spina bifida, Abnormal sacrum morphology, Abnormal vertebral segmentation and fusion, Sprengel an... ORPHA:2345
Thanatophoric Dysplasia Type 2
Patent ductus arteriosus, Short thorax, Encephalocele, Kyphosis, Hydrocephalus, Macrocephaly, Pla... ORPHA:93274
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type
Genu varum, Genu valgum, Broad femoral neck, Intervertebral space narrowing, Irregular vertebral ... OMIM:609223
Pallister-Hall Syndrome
Patent ductus arteriosus, Hypothalamic hamartoma, Mesoaxial foot polydactyly, Short 4th metacarpa... OMIM:146510
Schneckenbecken Dysplasia
Dumbbell-shaped long bone, Advanced ossification of carpal bones, Thoracic hypoplasia, Lateral cl... OMIM:269250
Pseudoachondroplasia
Short phalanx of finger, Irregular carpal bones, Irregular acetabular roof, Limited elbow extensi... ORPHA:750
Mucopolysaccharidosis, Type Iva
Pointed proximal second through fifth metacarpals, Coxa valga, Lumbar kyphosis, Constricted iliac... OMIM:253000
Metaphyseal Chondrodysplasia, Schmid Type
Short tubular bones of the hand, Metaphyseal cupping of proximal phalanges, Lumbar hyperlordosis,... ORPHA:174
Multiple Pterygium Syndrome, Escobar Variant
Neck pterygia, Anterior clefting of vertebral bodies, Dysplastic patella, Camptodactyly, Hip disl... OMIM:265000
Thanatophoric Dysplasia
Patent ductus arteriosus, Short thorax, Kyphosis, Hip dysplasia, Hydrocephalus, Macrocephaly, Pla... ORPHA:2655
Axial Spondylometaphyseal Dysplasia
Thoracic hypoplasia, Flattened femoral head, Aplasia/Hypoplasia of the vertebrae, Narrow greater ... ORPHA:168549
Spondyloepimetaphyseal Dysplasia, Handigodu Type
Hip subluxation, Protrusio acetabuli, Broad femoral neck, Broad radial metaphysis, Hip contractur... ORPHA:99642
Spondylometaphyseal Dysplasia, Axial
Anterior rib cupping, Coxa vara, Short femoral neck, Thoracic hypoplasia, Proximal femoral metaph... OMIM:602271
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Hypoplastic iliac wing, Short foot, Abnormality of the calcaneus, Cerebellar hypoplasia, Hydrocep... ORPHA:163966
Atelosteogenesis, Type Ii
Increased intervertebral space, Thoracic hypoplasia, Horizontal sacrum, Bifid humerus, Flat aceta... OMIM:256050
Robinow Syndrome, Autosomal Recessive 1
Delayed cranial suture closure, Pectus excavatum, Dislocated radial head, Radial deviation of fin... OMIM:268310
Sprengel Deformity
Rib segmentation abnormalities, Spina bifida occulta, Cervical segmentation defect, Scoliosis, Sp... OMIM:184400
Epiphyseal Dysplasia, Multiple, With Severe Proximal Femoral Dysplasia
Broad femoral neck, Genu valgum, Flat distal femoral epiphysis, Short femoral neck, Coxa vara, Ep... OMIM:609324
Spondyloepimetaphyseal Dysplasia, Irapa Type
Broad femoral neck, Genu valgum, Upper limb undergrowth, Enlargement of the costochondral junctio... OMIM:271650
Spondylometaphyseal Dysplasia, Kozlowski Type
Short tubular bones of the hand, Flared iliac wing, Absent epiphyses of the phalanges of the hand... ORPHA:93314
Progressive Pseudorheumatoid Arthropathy Of Childhood
Wrist swelling, Flat capital femoral epiphysis, Camptodactyly, Polyarticular arthropathy, Irregul... ORPHA:1159
Chromosome 1P36 Deletion Syndrome, Distal
Camptodactyly of finger, Delayed closure of the anterior fontanelle, Cerebral cortical atrophy, S... OMIM:607872
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Hypoplastic iliac wing, Irregular vertebral endplates, Hypoplastic pubic bone, Short foot, Enlarg... OMIM:609616
Microphthalmia, Syndromic 3
Patent ductus arteriosus, Vertebral fusion, Anterior pituitary hypoplasia, Vertebral hypoplasia, ... OMIM:206900
Thanatophoric Dysplasia, Type Ii
Metaphyseal irregularity, Hypoplastic ilia, Short ribs, Platyspondyly, Wide-cupped costochondral ... OMIM:187601
Autosomal Dominant Brachyolmia
Short thorax, Increased vertebral height, Kyphoscoliosis, Platyspondyly, Abnormal metaphysis morp... ORPHA:93304
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type
Dysplastic iliac wing, Metaphyseal spurs, Hypoplastic pubic bone, Thoracic hypoplasia, Short long... OMIM:608728
Mucopolysaccharidosis, Type Ivb
Pointed proximal second through fifth metacarpals, Hyperlordosis, Genu valgum, Coxa valga, Promin... OMIM:253010
Spondyloepiphyseal Dysplasia Congenita
Coxa vara, Limited elbow movement, Delayed calcaneal ossification, Kyphosis, Hypoplasia of the od... OMIM:183900
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome
Sacral dimple, Dilated third ventricle, Periventricular cysts, Tapered toe, Tapered finger, Later... ORPHA:544488
Multiple Epiphyseal Dysplasia, Beighton Type
Flattened femoral head, Low back pain, Flat capital femoral epiphysis, Thoracic platyspondyly, Ab... ORPHA:166011
Dyggve-Melchior-Clausen Disease
Hypoplastic acetabulae, Short neck, Limited elbow extension, Beaking of vertebral bodies, Abnorma... ORPHA:239
Dyggve-Melchior-Clausen Disease
Camptodactyly, Short neck, Flat glenoid fossa, Beaking of vertebral bodies, Narrow greater sciati... OMIM:223800
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Hydrocephalus, Macrocephaly, Sprengel anomaly, Sandal gap, Scoliosis, Brachydactyly, Abnormal rib... ORPHA:2180
Cerebellofaciodental Syndrome
Hypoplasia of the midbrain, Hypoplasia of the pons OMIM:616202
Smith-Mccort Dysplasia 1
Short phalanx of finger, Genu varum, Genu valgum, Hypoplastic acetabulae, Metaphyseal irregularit... OMIM:607326
Spondylometaphyseal Dysplasia, Kozlowski Type
Flared iliac wing, Elbow flexion contracture, Irregular capital femoral epiphysis, Short neck, Ir... OMIM:184252
Pseudoachondroplasia
Short phalanx of finger, Atlantoaxial dislocation, Irregular carpal bones, Limited elbow extensio... OMIM:177170
Spondyloepimetaphyseal Dysplasia With Joint Laxity
Radioulnar dislocation, Hypoplastic ilia, Abnormality of the elbow, Hip dysplasia, Elbow flexion ... ORPHA:93359
Epiphyseal Dysplasia, Multiple, 7
Genu varum, Advanced ossification of carpal bones, Short femoral neck, Vertebral wedging, Flat ac... OMIM:617719
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Narrow chest, Abnormal clavicle morphology, Short neck, Proximal placement of thumb, Platyspondyl... ORPHA:93267
Brachyolmia Type 1, Toledo Type
Intervertebral space narrowing, Irregular vertebral endplates, Back pain, Short femoral neck, Bro... OMIM:271630
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type
Genu varum, Coxa vara, Lower-limb metaphyseal irregularity, Short long bone, Enlarged metaphyses,... OMIM:618728
Spondyloepimetaphyseal Dysplasia, Strudwick Type
Hyperlordosis, Metaphyseal irregularity, Genu valgum, Anterior rib cupping, Coxa vara, Hypoplasti... OMIM:184250
Spondylometaphyseal Dysplasia, X-Linked
Knee flexion contracture, Thoracolumbar scoliosis, Hip contracture, Tapered finger, Hyperextensib... OMIM:313420
Spondyloepimetaphyseal Dysplasia, Irapa Type
Short metatarsal, Genu valgum, Upper limb undergrowth, Abnormal joint morphology, Abnormal carpal... ORPHA:93351
1P36 Deletion Syndrome
Camptodactyly of finger, Bifid ribs, 11 pairs of ribs, Patent ductus arteriosus, Delayed cranial ... ORPHA:1606
Autosomal Recessive Robinow Syndrome
Camptodactyly of finger, Toe syndactyly, Elbow dislocation, Pectus excavatum, Short neck, Sacral ... ORPHA:1507
Spondyloepiphyseal Dysplasia Tarda, Kohn Type
Abnormality of the knee, Abnormal vertebral morphology, Abnormal ilium morphology, Platyspondyly,... ORPHA:163665
Dysspondyloenchondromatosis
Genu valgum, Joint dislocation, Vertebral segmentation defect, Abnormal ulnar metaphysis morpholo... ORPHA:85198
Phaver Syndrome
Camptodactyly of finger, Triphalangeal thumb, Myelomeningocele, Radioulnar synostosis, Ulnar devi... ORPHA:2876
Odontochondrodysplasia 1
Short phalanx of finger, Flared iliac wing, Genu recurvatum, Platyspondyly, Metaphyseal widening,... OMIM:184260
Cole-Carpenter Syndrome 2
Kyphosis, Coronal craniosynostosis, Hydrocephalus, Macrocephaly, Pectus excavatum, Wide cranial s... OMIM:616294
Pallister-Hall Syndrome
Short 4th metacarpal, Gonadotropin deficiency, Toe syndactyly, Hip dislocation, Overlapping toe, ... ORPHA:672
Spondyloepiphyseal Dysplasia, Stanescu Type
Coxa valga, Hypoplastic ilia, Vertebral wedging, Internal tibial torsion, Kyphoscoliosis, Platysp... OMIM:616583
Acrocapitofemoral Dysplasia
Short tibia, Flared iliac wing, Short proximal phalanx of finger, Short femur, Pectus excavatum, ... OMIM:607778
Diastrophic Dysplasia
Camptodactyly of finger, Elbow dislocation, Hypoplastic cervical vertebrae, Abnormal rib morpholo... ORPHA:628
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Metaphyseal irregularity, Metaphyseal cupping, Coxa vara, Short metacarpal, Severe platyspondyly,... OMIM:608940
Proximal 16P11.2 Microdeletion Syndrome
Macrocephaly, Hand polydactyly, Abnormal vertebral morphology, Rib fusion, Scoliosis, Craniosynos... ORPHA:261197
Brachyolmia, Maroteaux Type
Short thorax, Pectus excavatum, Scoliosis, Platyspondyly, Abnormal form of the vertebral bodies ORPHA:93302
Wolf-Hirschhorn Syndrome
Periventricular cysts, Hip dislocation, Metatarsus adductus, Short hallux, Abnormal sternal ossif... OMIM:194190
Cantu Syndrome
Broad first metatarsal, Patent ductus arteriosus, Coxa valga, Erlenmeyer flask deformity of the f... OMIM:239850
Kbg Syndrome
Vertebral fusion, Vertebral arch anomaly, Thoracic kyphosis, Clinodactyly of the 5th finger, Cerv... OMIM:148050
Baller-Gerold Syndrome
Absent thumb, Aplasia of metacarpal bones, Aphalangy of the hands, Optic nerve hypoplasia, Spina ... OMIM:218600
Spondylometaphyseal Dysplasia With Corneal Dystrophy
Patent ductus arteriosus, Increased intervertebral space, Short long bone, Short ribs, Coarse met... OMIM:618961
Thanatophoric Dysplasia Type 1
Patent ductus arteriosus, Hypoplastic ilia, Kyphosis, Hydrocephalus, Macrocephaly, Short femur, F... ORPHA:1860
Joubert Syndrome 36
Molar tooth sign on MRI OMIM:618763
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Dumbbell-shaped long bone, Thoracic hypoplasia, Severe platyspondyly, Short neck, Ovoid vertebral... OMIM:151210
Pyle Disease
Genu valgum, Abnormal thorax morphology, Platyspondyly, Scoliosis, Limited elbow extension, Cubit... OMIM:265900
Fibrochondrogenesis 1
Dumbbell-shaped long bone, Thoracic hypoplasia, Camptodactyly, Short neck, Widely patent coronal ... OMIM:228520
Spondylometaphyseal Dysplasia, A4 Type
Flared, irregular rib ends, Short palm, Coxa vara, Platyspondyly ORPHA:168555
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Triphalangeal thumb, Patent ductus arteriosus, Preaxial hand polydactyly, Spina bifida, Vertebral... ORPHA:1120
Pontine Tegmental Cap Dysplasia
Ankle clonus, Rib fusion, Scoliosis, Hypoplasia of the corpus callosum, Hemivertebrae OMIM:614688
Desbuquois Dysplasia 1
Broad first metatarsal, Advanced ossification of carpal bones, Coxa valga, Proximal fibular overg... OMIM:251450
White Forelock With Malformations
Finger syndactyly, Clinodactyly of the 5th finger, Spina bifida occulta, Sprengel anomaly, Abnorm... ORPHA:2475
Heart Defects-Limb Shortening Syndrome
Kyphosis, Narrow chest, Abnormal rib morphology, Abnormal metaphysis morphology, Abnormal form of... ORPHA:1354
Fibrochondrogenesis 2
Bell-shaped thorax, Metaphyseal cupping, Hypoplastic pubic bone, Hypoplastic ilia, Thoracic hypop... OMIM:614524
Atelosteogenesis, Type I
Thoracic hypoplasia, Vertebral hypoplasia, Distal tapering femur, Short femur, Elbow dislocation,... OMIM:108720
Microcephalic Osteodysplastic Dysplasia, Saul-Wilson Type
Small hand, Hypoplasia of the odontoid process, Cone-shaped epiphyses of the phalanges of the han... ORPHA:85172
Short-Rib Thoracic Dysplasia 18 With Polydactyly
2-3 toe syndactyly, Thoracic hypoplasia, Short ribs, Radial bowing, Vertebral wedging, Hydrocepha... OMIM:617866
Achondroplasia
Thoracic hypoplasia, Severe platyspondyly, Spinal stenosis with reduced interpedicular distance, ... OMIM:100800
Endosteal Hyperostosis, Worth Type
Clavicular sclerosis, Abnormal rib morphology, Diaphyseal thickening, Sclerotic vertebral body, A... ORPHA:2790
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3
Metaphyseal irregularity, Irregular vertebral endplates, Tapered finger, Short femoral neck, Pate... OMIM:618395
Mucopolysaccharidosis, Type Vii
Anterior beaking of lumbar vertebrae, Genu valgum, Kyphosis, Hypoplasia of the odontoid process, ... OMIM:253220
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Bell-shaped thorax, Kyphosis, Erlenmeyer flask deformity of the femurs, Hyperintensity of cerebra... OMIM:618476
Spondyloepiphyseal Dysplasia Tarda
Hip osteoarthritis, Flattened femoral head, Premature osteoarthritis, Short neck, Decreased cervi... ORPHA:93284
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Vertebral fusion, Supernumerary vertebrae, Short ribs, Block vertebrae, Missing ribs, Short neck,... OMIM:271520
Wolf-Hirschhorn Syndrome
Sacral dimple, Aplasia/Hypoplasia of the cerebellum, Preaxial hand polydactyly, Hypoplastic pubic... ORPHA:280
Kyphomelic Dysplasia
Short thorax, Anterior rib cupping, Missing ribs, Flat acetabular roof, Lateral clavicle hook, Na... ORPHA:1801
Spondyloepimetaphyseal Dysplasia With Abnormal Dentition
Broad femoral neck, Genu valgum, Pseudoepiphyses, Tapered finger, Metaphyseal irregularity, Short... OMIM:601668
Craniodiaphyseal Dysplasia
Abnormal rib morphology, Macrocephaly, Diaphyseal thickening ORPHA:1513
Metaphyseal Chondrodysplasia, Schmid Type
Metaphyseal cupping of proximal phalanges, Metaphyseal chondrodysplasia, Irregular acetabular roo... OMIM:156500
Juberg-Hayward Syndrome
Abnormality of the elbow, Abnormal finger morphology, Toe syndactyly, Hypoplasia of the radius, A... ORPHA:2319
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Aqueductal stenosis, Abnormally ossified vertebrae, Radial bowing, Cerebral calcification, Lower ... ORPHA:3035
Schwartz-Jampel Syndrome, Type 1
Wrist flexion contracture, Coxa valga, Short neck, Flexion contracture of toe, Lumbar hyperlordos... OMIM:255800
Desbuquois Dysplasia 2
Short phalanx of finger, Advanced ossification of carpal bones, Coxa valga, Hip dislocation, Pect... OMIM:615777
Hydrolethalus Syndrome 2
Anencephaly, Hydrocephalus, Molar tooth sign on MRI OMIM:614120
Spondyloepimetaphyseal Dysplasia, Missouri Type
Irregular sclerotic endplates, Genu varum, Flared, irregular rib ends, Metaphyseal cupping, Pear-... OMIM:602111
Spondyloepiphyseal Dysplasia Tarda With Mental Retardation
Anterior beaking of lumbar vertebrae, Coxa valga, Short greater sciatic notch, Platyspondyly OMIM:271620
Osteogenesis Imperfecta, Type Ix
Kyphosis, Short lower limbs, Pectus excavatum, Scoliosis, Platyspondyly, Pectus carinatum, Wormia... OMIM:259440
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome
Flattened femoral head, Narrow pelvis bone, Fibular metaphyseal irregularity, Overlapping toe, Di... ORPHA:457395
Craniorachischisis
Spinal dysraphism, Myelomeningocele, Anencephaly, Sirenomelia, Cervical spina bifida, Bifid sternum ORPHA:63260
Achondrogenesis Type 1B
Short thorax, Narrow chest, Macrocephaly, Short neck, Abnormal rib morphology, Short foot, Umbili... ORPHA:93298
Osteoarthritis With Mild Chondrodysplasia
Irregular vertebral endplates, Hip osteoarthritis, Heberden's node, Platyspondyly, Beaking of ver... OMIM:604864
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy
Flared iliac wing, Short neck, Flattened epiphysis, Peg-like central prominence of distal tibial ... OMIM:300232
Spondyloepimetaphyseal Dysplasia, Di Rocco Type
Genu varum, Delayed ossification of carpal bones, Bowing of the legs, Irregular acetabular roof, ... OMIM:617974
Spondyloperipheral Dysplasia-Short Ulna Syndrome
Flattened femoral head, Hip dysplasia, Abnormal hip joint morphology, Irregular epiphyses, Abnorm... ORPHA:1856
Kniest Dysplasia
Genu varum, Dumbbell-shaped long bone, Splayed epiphyses, Coxa vara, Hip contracture, Tibial bowi... OMIM:156550
Brachydactylous Dwarfism, Mseleni Type
Short toe, Protrusio acetabuli, Hip osteoarthritis, Brachytelomesophalangy, Abnormality of the wr... ORPHA:2619
Greenberg Dysplasia
Short phalanx of finger, Absent or minimally ossified vertebral bodies, Thoracic hypoplasia, Tetr... OMIM:215140
Jeune Syndrome
Abnormal sternum morphology, Short thorax, Cone-shaped epiphysis, Toe syndactyly, Narrow chest, A... ORPHA:474
Acromesomelic Dysplasia 4
Short phalanx of finger, Beaking of vertebral bodies, Thoracic platyspondyly, Lumbar hyperlordosi... OMIM:619636
Greenberg Dysplasia
Abnormally ossified vertebrae, Abnormal pelvis bone ossification, Platyspondyly, Brachydactyly, N... ORPHA:1426
Spondyloepiphyseal Dysplasia Tarda, X-Linked
Hypoplastic iliac wing, Hump-shaped mound of bone in central and posterior portions of vertebral ... OMIM:313400
Zttk Syndrome
Patent ductus arteriosus, Small hand, Kyphosis, Cerebellar hypoplasia, Periventricular leukomalac... OMIM:617140
Cantú Syndrome
Patent ductus arteriosus, Coxa valga, Finger syndactyly, Cuboid-shaped vertebral bodies, Macrocep... ORPHA:1517
Cole-Carpenter Syndrome
Crumpled long bones, Kyphosis, Communicating hydrocephalus, Scoliosis, Abnormal form of the verte... ORPHA:2050
Hall-Riggs Mental Retardation Syndrome
Irregular vertebral endplates, Kyphosis, Brachydactyly, Scoliosis, Microcephaly, Platyspondyly, M... OMIM:234250
Spondyloepiphyseal Dysplasia, Kimberley Type
Genu varum, Genu valgum, Flat capital femoral epiphysis, Platyspondyly OMIM:608361
Spondyloepimetaphyseal Dysplasia, Shohat Type
Genu varum, Metaphyseal irregularity, Fibular overgrowth, Bell-shaped thorax, Coxa vara, Short fe... OMIM:602557
Cog1-Cdg
Coxa valga, Short long bone, Vertebral segmentation defect, Flat acetabular roof, Butterfly verte... ORPHA:263508
Multiple Epiphyseal Dysplasia, Al-Gazali Type
Molar tooth sign on MRI ORPHA:166024
Meckel Syndrome 13
Occipital encephalocele, Molar tooth sign on MRI OMIM:617562
Spondyloepiphyseal Dysplasia, Kimberley Type
Abnormal epiphysis morphology, Short thorax, Osteoarthritis, Platyspondyly ORPHA:93283
Robinow Syndrome
Bifid distal phalanx of the thumb, Radioulnar dislocation, Missing ribs, Macrocephaly, Syndactyly... ORPHA:97360
Smith-Mccort Dysplasia 2
Short phalanx of finger, Broad femoral neck, Genu valgum, Metaphyseal irregularity, Hyperlordosis... OMIM:615222
Kniest Dysplasia
Dumbbell-shaped long bone, Short neck, Delayed patellar ossification, Enlarged joints, Cervical s... ORPHA:485
Odontochondrodysplasia
Patent ductus arteriosus, Coxa valga, Abnormal metaphysis morphology, Scoliosis, Platyspondyly, N... ORPHA:166272
Progressive Pseudorheumatoid Dysplasia
Camptodactyly of finger, Genu varum, Coxa vara, Joint contracture of the hand, Enlarged epiphyses... OMIM:208230
Gm1-Gangliosidosis, Type Iii
Anterior beaking of lumbar vertebrae, Hypoplastic acetabulae, Kyphosis, Flared iliac wing, Diffus... OMIM:230650
Mucopolysaccharidosis Type 4
Hyperlordosis, Genu valgum, Joint dislocation, Coxa valga, Short thorax, Kyphosis, Macrocephaly, ... ORPHA:582
Mesomelic Dysplasia, Kantaputra Type
Camptodactyly of finger, Abnormality of the humerus, Synostosis of carpal bones, Abnormality of t... ORPHA:1836
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Fractured radius, Thoracic hypoplasia, Short ribs, Cerebellar hypoplasia, Multiple rib fractures,... OMIM:616897
Cleidocranial Dysplasia
Genu valgum, Tapered finger, Coxa vara, Narrow chest, Hypoplastic inferior ilia, Abnormal metacar... ORPHA:1452
Osteogenesis Imperfecta, Type Xv
Cerebellar hypoplasia, Hypoplasia of the pons, Scoliosis, Platyspondyly, Schizencephaly, Thin ribs OMIM:615220
Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes
Irregular vertebral endplates, Lumbar scoliosis, Lower limb undergrowth, Bowing of the legs, Plat... OMIM:612847
Spondyloepimetaphyseal Dysplasia, Shohat Type
Genu varum, Metaphyseal irregularity, Fibular overgrowth, Thoracic hypoplasia, Hyperlordosis, Sho... ORPHA:93352
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus
Hip subluxation, Coxa valga, Irregular carpal bones, Ivory epiphyses of the phalanges of the hand... OMIM:226980
Spondyloperipheral Dysplasia
Short distal phalanx of the 2nd finger, Flat capital femoral epiphysis, Shortening of all middle ... OMIM:271700
Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant
Irregular vertebral endplates, Avascular necrosis of the capital femoral epiphysis, Arthritis, Hy... OMIM:184100
Axial Mesodermal Dysplasia Spectrum
Abnormality of the knee, Cerebral cortical atrophy, Vertebral segmentation defect, Hydrocephalus,... ORPHA:1834
Femoral-Facial Syndrome
Hypoplastic acetabulae, Preaxial hand polydactyly, Limited elbow movement, Humeroradial synostosi... OMIM:134780
Holt-Oram Syndrome
Triphalangeal thumb, Patent ductus arteriosus, Absent thumb, Finger syndactyly, Kyphosis, Abnorma... ORPHA:392
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly
Short 5th metacarpal, Short middle phalanx of the 5th finger, Short middle phalanx of the 2nd fin... OMIM:156510
Bruck Syndrome 1
Knee flexion contracture, Protrusio acetabuli, Hip contracture, Coxa vara, Kyphosis, Elbow flexio... OMIM:259450
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Coxa valga, Abnormality of the elbow, Abnormality of cranial sutures, Thoracic kyphosis, Flat ace... ORPHA:163649
Short-Rib Thoracic Dysplasia 12
Horizontal ribs, Thoracic dysplasia, Holoprosencephaly, Short neck, Short palm, Short toe, Short ... OMIM:269860
Spondyloepimetaphyseal Dysplasia With Multiple Dislocations
Hip subluxation, Elbow flexion contracture, Flat capital femoral epiphysis, Hip dislocation, Slen... ORPHA:93360
Osteogenesis Imperfecta, Type Xiii
Arachnodactyly, Enlarged thorax, Wide pubic symphysis, Wide distal femoral metaphysis, Femoral bo... OMIM:614856
Poland Syndrome
Spina bifida occulta, Short neck, Abnormal rib morphology, Absent hand, Short ribs, Finger sympha... ORPHA:2911
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Hyperlordosis, Kyphosis, Fused cervical vertebrae, Pectus excavatum, Abnormal clavicle morphology... ORPHA:2522
Microcephalic Primordial Dwarfism, Toriello Type
Microcephaly, Brachydactyly, Abnormal rib morphology, Abnormal epiphysis morphology, Intrauterine... ORPHA:2643
Anauxetic Dysplasia 1
Short toe, Hip contracture, Short foot, Hypoplastic ilia, Thoracic kyphosis, Elbow flexion contra... OMIM:607095
Lethal Kniest-Like Dysplasia
Abnormality of the ischium, Anterior rib cupping, Hypoplastic ilia, Short ribs, Macrocephaly, Hyp... ORPHA:2347
Thin Ribs-Tubular Bones-Dysmorphism Syndrome
Slender long bone, Macrocephaly, Abnormal pelvic girdle bone morphology, Abnormal rib morphology,... ORPHA:1506
Spondyloepiphyseal Dysplasia Congenita
Increased head circumference, Short femur, Aplasia/hypoplasia involving bones of the extremities,... ORPHA:94068
Second Metatarsal-Metacarpal Syndrome
Synostosis of carpals/tarsals, Abnormal metacarpal morphology, Platyspondyly OMIM:269630
Otopalatodigital Syndrome Type 2
Camptodactyly of finger, Flared iliac wing, Elbow dislocation, Short hallux, Abnormal rib morphol... ORPHA:90652
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly
Horizontal ribs, Short 4th metacarpal, Thoracic hypoplasia, Camptodactyly, Broad hallux, Ovoid ve... OMIM:618019
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Kyphosis, Lumbar hyperlordosis, Hydrocephalus, Macrocephaly, Femoral bowing, Megalencephaly, Hypo... OMIM:616482
Oculocerebrocutaneous Syndrome
Aplasia/Hypoplasia of the corpus callosum, Finger syndactyly, Cerebellar hypoplasia, Hydrocephalu... ORPHA:1647
Metaphyseal Acroscyphodysplasia
Short phalanx of finger, Coxa valga, Narrow pelvis bone, Short humerus, Short palm, Short toe, Co... OMIM:250215
Combined Oxidative Phosphorylation Deficiency 47
Cone-shaped epiphyses of the distal phalanges of the hand, Toe syndactyly, Short neck, Microcepha... OMIM:618958
Joubert Syndrome 16
Encephalocele, Molar tooth sign on MRI OMIM:614465
Mucopolysaccharidosis, Type Vi
Hypoplastic acetabulae, Flared iliac wing, Anterior wedging of L2, Ovoid vertebral bodies, Lumbar... OMIM:253200
Spondylocamptodactyly Syndrome
Camptodactyly of finger, Scoliosis, Platyspondyly ORPHA:3180
Osteogenesis Imperfecta, Type Ii
Crumpled long bones, Bell-shaped thorax, Thoracic hypoplasia, Abnormal pelvic girdle bone morphol... OMIM:166210
Joubert Syndrome 10
Molar tooth sign on MRI OMIM:300804
Platyspondylic Dysplasia, Torrance Type
Genu varum, Metaphyseal cupping, Short thorax, Abnormal carpal morphology, Narrow chest, Hypoplas... ORPHA:85166
10Q22.3Q23.3 Microduplication Syndrome
Abnormal rib morphology, Abnormal clavicle morphology, Microcephaly ORPHA:276422
Joubert Syndrome 25
Molar tooth sign on MRI OMIM:616781
Cartilage-Hair Hypoplasia
Spinal dysraphism, Abnormal distal phalanx morphology of finger, Short neck, Metaphyseal chondrod... ORPHA:175
Joubert Syndrome 4
Molar tooth sign on MRI, Elongated superior cerebellar peduncle, Thickened superior cerebellar pe... OMIM:609583
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density
Short tibia, Absent ossification of thoracic vertebral bodies, Hypoplasia of the radius, Absent o... OMIM:601376
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Global brain atrophy, Absent thumb, Patent ductus arteriosus after birth at term, Ischemic stroke... ORPHA:500150
Meckel Syndrome, Type 4
Meningocele, Encephalocele, Molar tooth sign on MRI, Anencephaly, Hydrocephalus, Intrauterine gro... OMIM:611134
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Iliac crest serration, Bell-shaped thorax, Metaphyseal cupping, Severe platyspondyly, Short long ... OMIM:613320
Thoracolaryngopelvic Dysplasia
Horizontal ribs, Hypoplastic iliac wing, Bell-shaped thorax, Irregular vertebral endplates, Irreg... OMIM:187760
Joubert Syndrome 18
Occipital encephalocele, Arrhinencephaly, Molar tooth sign on MRI, Intrauterine growth retardation OMIM:614815
Pseudodiastrophic Dysplasia
Platyspondyly, Scoliosis, Phalangeal dislocation, Elbow dislocation ORPHA:85174
Anauxetic Dysplasia 3
Hip subluxation, Genu valgum, Metaphyseal cupping, Short metacarpal, Broad middle phalanx of fing... OMIM:618853
Hypophosphatasia, Infantile
Vertebral clefting, Metaphyseal cupping, Short ribs, Short lower limbs, Unossified vertebral bodi... OMIM:241500
Trisomy 1Q
Camptodactyly of finger, Patent ductus arteriosus, Preaxial hand polydactyly, Short thorax, Cereb... ORPHA:261344
Spondyloepiphyseal Dysplasia, Maroteaux Type
Genu valgum, Platyspondyly OMIM:184095
Dysosteosclerosis
Short diaphyses, Short sternum, Broad femoral neck, Delayed closure of the anterior fontanelle, B... OMIM:224300
Mosaic Trisomy 14
Camptodactyly of finger, Narrow chest, Short neck, Abnormal rib morphology ORPHA:1703
Spondylometaphyseal Dysplasia, Schmidt Type
Metaphyseal dysplasia, Genu valgum, Abnormality of the knee, Coxa vara, Short femoral neck, Abnor... ORPHA:93316
Otospondylomegaepiphyseal Dysplasia
Short phalanx of finger, Short neck, Fibular bowing, Enlarged joints, Lumbar hyperlordosis, Abnor... ORPHA:1427
Grant Syndrome
Joint dislocation, Narrow chest, Abnormality of the glenoid fossa, Abnormal pelvic girdle bone mo... ORPHA:2097
Pseudodiastrophic Dysplasia
Hypoplasia of the odontoid process, Camptodactyly, Elbow dislocation, Short neck, Phalangeal disl... OMIM:264180
Otopalatodigital Syndrome, Type Ii
Delayed closure of the anterior fontanelle, Toe syndactyly, Pectus excavatum, Broad hallux, Short... OMIM:304120
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Shoulder dislocation, Hallux valgus, Spatulate thumbs, Elbow flexion contracture, Hip dislocation... OMIM:245600
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech
Short phalanx of finger, Thoracic hypoplasia, Pectus excavatum, Short neck, Anterior scalloping o... OMIM:611717
Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant
Epiphyseal dysplasia, Platyspondyly, Premature osteoarthritis, Enlarged epiphyses OMIM:184840
Joubert Syndrome 7
Brainstem dysplasia, Hypoplasia of the brainstem, Encephalocele, Molar tooth sign on MRI OMIM:611560
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
Vertebral hypoplasia, Corner fracture of metaphysis, Short neck, Ovoid vertebral bodies, Lumbar h... ORPHA:93315
3M Syndrome
Horizontal ribs, Enlarged thorax, Short neck, Scapular winging, Abnormal metaphysis morphology, R... ORPHA:2616
Chondroectodermal Dysplasia With Night Blindness
Metaphyseal irregularity, Abnormality of the knee, Abnormal patella morphology, Epiphyseal dyspla... ORPHA:319195
Osteogenesis Imperfecta, Type V
Biconcave vertebral bodies, Anterior radial head dislocation, Hyperextensibility of the finger jo... OMIM:610967
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Horizontal ribs, Short tibia, Patent ductus arteriosus, Bell-shaped thorax, Encephalocele, Short ... OMIM:616300
Cooper-Jabs Syndrome
Camptodactyly of finger, Missing ribs, Proximal placement of thumb, Scoliosis, Abnormal rib morph... ORPHA:1488
Cerebrocostomandibular Syndrome
Meningocele, Bell-shaped thorax, Myelomeningocele, Kyphosis, Spina bifida, Porencephalic cyst, Cl... ORPHA:1393
Vacterl/Vater Association
Preaxial hand polydactyly, Finger syndactyly, Vertebral segmentation defect, Anencephaly, Abnorma... ORPHA:887
Spondylometaphyseal Dysplasia, Algerian Type
Genu valgum, Anterior rib cupping, Short tubular bones of the hand, Coxa vara, Short long bone, S... OMIM:184253
Mucopolysaccharidosis, Type X
Hyperlordosis, Genu valgum, Broad clavicles, Hip dysplasia, Platyspondyly, Scoliosis, Irregular a... OMIM:619698
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3
Short phalanx of finger, Camptodactyly of finger, Broad femoral neck, Irregular vertebral endplat... OMIM:612350
Coach Syndrome 2
Hydrocephalus, Molar tooth sign on MRI OMIM:619111
Bent Bone Dysplasia Syndrome 2
Short tibia, Hypoplastic iliac wing, Short sternum, Hypoplastic acetabulae, Short 1st metacarpal,... OMIM:620076
Opsismodysplasia
Short phalanx of finger, Bell-shaped thorax, Metaphyseal cupping, Anterior rib cupping, Short foo... OMIM:258480
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome
Metatarsus valgus, Kyphosis, Toe syndactyly, Aplasia/Hypoplasia of fingers, Aplasia/Hypoplasia of... ORPHA:3082
Osteogenesis Imperfecta, Type Xxi
Bell-shaped thorax, Coxa valga, Coxa vara, Pectus excavatum, Bowing of the legs, Barrel-shaped ch... OMIM:619131
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Abnormal rib morphology, Aplasia/Hypoplasia of the cerebellum, Intrauterine growth retardation, M... ORPHA:2772
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive
Flattened metatarsal heads, Hip osteoarthritis, Flattened metacarpal heads, Platyspondyly, Osteoa... OMIM:271600
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type
Short phalanx of finger, Hip subluxation, Thoracic hypoplasia, Progressive calcification of costo... OMIM:271665
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Hypoplasia of the frontal lobes, Lateral ventricle dilatation, Elbow flexion contracture, Hip dis... OMIM:210710
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities
Coxa valga, Narrow greater sciatic notch, Delayed ossification of carpal bones, Pectus excavatum,... OMIM:617425
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Hallux valgus, Atlantoaxial dislocation, Pectus excavatum, Congenital kyphoscoliosis, Ovoid verte... ORPHA:536467
Joubert Syndrome 40
Molar tooth sign on MRI OMIM:619582
Brachyolmia Type 3
Short femoral neck, Kyphosis, Clinodactyly, Barrel-shaped chest, Proximal femoral metaphyseal irr... OMIM:113500
Shprintzen-Goldberg Craniosynostosis Syndrome
Genu valgum, Pectus carinatum, Joint contracture of the hand, Genu recurvatum, Supernumerary ribs... OMIM:182212
Joubert Syndrome 31
Molar tooth sign on MRI OMIM:617761
Joubert Syndrome 22
Molar tooth sign on MRI, Intrauterine growth retardation OMIM:615665
Cat-Eye Syndrome
Abnormal rib morphology, Hip dysplasia, Intrauterine growth retardation ORPHA:195
Tetraamelia-Multiple Malformations Syndrome
Septo-optic dysplasia, Hydrocephalus, Missing ribs, Aplasia/Hypoplasia involving the pelvis, Abno... ORPHA:3301
Joubert Syndrome 9
Encephalocele, Molar tooth sign on MRI OMIM:612285
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Short phalanx of finger, Metaphyseal irregularity, Coxa vara, Short metacarpal, Hypoplastic ilia,... ORPHA:85167
Slc39A13-Related Spondylodysplastic Ehlers-Danlos Syndrome
Broad femoral neck, Tapered finger, Short femoral neck, Flat capital femoral epiphysis, Flattened... ORPHA:157965
Spondylometaphyseal Dysplasia, Sedaghatian Type
Short phalanx of finger, Flared iliac wing, Focal lissencephaly, Irregular tarsal bones, Short ne... OMIM:250220
Saul-Wilson Syndrome
Irregular vertebral endplates, Coxa valga, Madelung deformity, Short metacarpal, Enlarged epiphys... OMIM:618150
Trisomy 20P
Camptodactyly of finger, Preaxial hand polydactyly, Finger syndactyly, Kyphosis, Spina bifida, Ve... ORPHA:261318
Spondyloepimetaphyseal Dysplasia, Aggrecan Type
Short finger, Relative macrocephaly, Irregular epiphyses, Barrel-shaped chest, Platyspondyly, Bro... OMIM:612813
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type
Hypoplastic pubic bone, Short long bone, Delayed ossification of carpal bones, Abnormal vertebral... ORPHA:93346
Orofaciodigital Syndrome Xv
Molar tooth sign on MRI OMIM:617127
Autosomal Recessive Stickler Syndrome
Genu valgum, Irregular vertebral endplates, Epiphyseal dysplasia, Platyspondyly, Abnormal epiphys... ORPHA:250984
Monosomy 9Q22.3
Polydactyly, Kyphosis, Hydrocephalus, Macrocephaly, Calcification of falx cerebri, Pectus excavat... ORPHA:77301
Campomelic Dysplasia
Short phalanx of finger, Spinal dysraphism, Thoracic hypoplasia, Hallux valgus, Hip dislocation, ... OMIM:114290
Osteogenesis Imperfecta, Type X
Genu valgum, Broad ribs, Thoracic hypoplasia, Multiple rib fractures, Relative macrocephaly, Shor... OMIM:613848
Rhizomelic Dysplasia, Ain-Naz Type
Short femoral neck, Wide distal femoral metaphysis, Hip dysplasia, Short femur, Hypoplasia of the... OMIM:619598
Melnick-Needles Syndrome
Osteolytic defects of the phalanges of the hand, Delayed cranial suture closure, Short thorax, Co... ORPHA:2484
Alagille Syndrome
Butterfly vertebral arch, Vertebral segmentation defect, Clinodactyly of the 5th finger, Hypoplas... ORPHA:52
Joubert Syndrome 33
Molar tooth sign on MRI OMIM:617767
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome
Short neck, Abnormal rib morphology, Abnormality of the humeroulnar joint, Hemivertebrae, Abnorma... ORPHA:2234
Hyperparathyroidism, Transient Neonatal
Patent ductus arteriosus, Undulate ribs, Short ribs, Short long bone, Communicating hydrocephalus... OMIM:618188
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
Hip subluxation, Advanced ossification of carpal bones, Coxa valga, Hallux valgus, Large iliac wi... OMIM:271640
Spondyloepimetaphyseal Dysplasia, X-Linked
Short phalanx of finger, Coxa valga, Flared iliac wing, Narrow pelvis bone, Limited elbow extensi... OMIM:300106
Lowry-Wood Syndrome
Aplasia/Hypoplasia of the corpus callosum, Coxa vara, Patellar dislocation, Irregular epiphyses, ... ORPHA:1824
Osteogenesis Imperfecta, Type Xvi
Short long bone, Multiple rib fractures, Platyspondyly, Angulated humerus, Narrow chest, Vertebra... OMIM:616229
Lenz-Majewski Hyperostotic Dwarfism
Delayed cranial suture closure, Cerebral cortical atrophy, Humeroradial synostosis, Elbow flexion... OMIM:151050
Achondrogenesis, Type Ia
Bell-shaped thorax, Hypoplastic sacrum, Short thorax, Short ribs, Bowing of the arm, Hypoplasia o... OMIM:200600
Stickler Syndrome, Type I
Kyphosis, Arthropathy, Arthritis, Pectus excavatum, Platyspondyly, Spondylolisthesis, Scoliosis, ... OMIM:108300
Lethal Congenital Contracture Syndrome Type 1
Abnormality of the elbow, Slender long bone, Short neck, Abnormal rib morphology, Abnormal hip bo... ORPHA:1486
Renpenning Syndrome
Clinodactyly of the 5th finger, Pectus excavatum, Abnormal thumb morphology, Sprengel anomaly, Mi... ORPHA:3242
Alpha-Mannosidosis, Infantile Form
Genu valgum, Thickened ribs, Talipes valgus, Cerebral cortical atrophy, Subcortical cerebral atro... ORPHA:309282
Sillence Syndrome
Large iliac wing, Camptodactyly, Metatarsus adductus, Abnormal distal phalanx morphology of finge... ORPHA:3168
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness
Flat glenoid fossa, Short palm, Lumbar hyperlordosis, Metaphyseal irregularity, Genu valgum, Shor... OMIM:250420
Spondylometaphyseal Dysplasia, Pagnamenta Type
Short 4th metacarpal, Short 5th metacarpal, Thoracic kyphosis, Femoral bowing, Broad thumb, Platy... OMIM:619638
Gm1 Gangliosidosis Type 1
Broad long bone diaphyses, Short long bone, Flattened femoral head, Flared iliac wing, Beaking of... ORPHA:79255
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2
Abnormal rib morphology, Vertebral segmentation defect, Short neck ORPHA:2578
Cardiospondylocarpofacial Syndrome
Fusion of middle ear ossicles, Pseudoepiphyses, Fused cervical vertebrae, Carpal synostosis, Hern... OMIM:157800
Joubert Syndrome 20
Molar tooth sign on MRI OMIM:614970
Joubert Syndrome 15
Molar tooth sign on MRI OMIM:614464
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive
Short phalanx of finger, Short 5th metacarpal, Large tarsal bones, Short long bone, Epiphyseal dy... OMIM:215150
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type
Thoracolumbar scoliosis, Short femoral neck, Short metacarpal, Narrow pelvis bone, Carpal bone hy... OMIM:616723
Schwartz-Jampel Syndrome
Metatarsus valgus, Wrist flexion contracture, Coxa valga, Elbow dislocation, Pectus excavatum, Sh... ORPHA:800
Multiple Synostoses Syndrome 1
2-3 toe syndactyly, Pectus excavatum, Dislocated radial head, Short hallux, Radial deviation of f... OMIM:186500
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Missing ribs, Clinodactyly of the 5th finger, Arachnodactyly, Abnormal rib morphology, Hemiverteb... ORPHA:2759
Rhizomelic Dysplasia, Patterson-Lowry Type
Coxa vara, Short metacarpal, Platyspondyly, Brachydactyly, Short metatarsal, Deformed humeral hea... OMIM:601438
Craniosynostosis, Herrmann-Opitz Type
Finger syndactyly, Split hand, Brachydactyly, Abnormal rib morphology, Craniosynostosis, Intraute... ORPHA:2145
Geroderma Osteodysplastica
Biconcave vertebral bodies, Hip dislocation, Vertebral compression fracture, Scoliosis, Platyspon... ORPHA:2078
Trisomy 18
Camptodactyly of finger, Aplasia/Hypoplasia of the corpus callosum, Spina bifida, Anencephaly, Na... ORPHA:3380
Acro-Renal-Mandibular Syndrome
Pectus carinatum, Finger syndactyly, Kyphosis, Hypoplasia of the radius, Hip dislocation, Butterf... ORPHA:958
Joubert Syndrome 28
Molar tooth sign on MRI OMIM:617121
Hurler Syndrome
Camptodactyly of finger, Abnormality of the elbow, Hydrocephalus, Narrow pelvis bone, Spinal cana... ORPHA:93473
Spondylometaphyseal Dysplasia, Sedaghatian Type
Iliac crest serration, Short metacarpal, Cerebellar hypoplasia, Narrow chest, Abnormal scapula mo... ORPHA:93317
Cenani-Lenz Syndrome
Foot oligodactyly, Finger syndactyly, Toe syndactyly, Hypoplasia of the radius, Synostosis of car... ORPHA:3258
Stickler Syndrome Type 1
Abnormal epiphysis morphology, Abnormality of vertebral epiphysis morphology, Osteoarthritis, Pla... ORPHA:90653
Fibrochondrogenesis
Camptodactyly of finger, Bell-shaped thorax, Broad ribs, Short ribs, Narrow chest, Abnormal diaph... ORPHA:2021
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Kyphosis, Platyspondyly ORPHA:2786
Atelosteogenesis Type I
Absent or minimally ossified vertebral bodies, Joint dislocation, Thoracic hypoplasia, Abnormal o... ORPHA:1190
Brachyolmia Type 2
Platyspondyly OMIM:613678
Meckel Syndrome, Type 10
Occipital encephalocele, Anencephaly, Molar tooth sign on MRI OMIM:614175
Joubert Syndrome 27
Molar tooth sign on MRI OMIM:617120
Morquio Syndrome C
Platyspondyly OMIM:252300
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Short phalanx of finger, Severe platyspondyly, Abnormal thorax morphology, Elbow flexion contract... ORPHA:508533
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies
Abnormal rib morphology, Hypoplastic distal segments of scapulae, Pectus excavatum OMIM:602196
Spondylodysplastic Ehlers-Danlos Syndrome
Hallux valgus, Patellar dislocation, Elbow flexion contracture, Flat capital femoral epiphysis, O... ORPHA:536471
Osteogenesis Imperfecta
Noncommunicating hydrocephalus, Thoracic hypoplasia, Pectus excavatum, Dislocated radial head, Ab... ORPHA:666
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Horizontal ribs, Disproportionate shortening of the tibia, Preaxial hand polydactyly, Lateral ven... OMIM:263520
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome
Hyperlordosis, Clinodactyly of the 5th finger, Microcephaly, Abnormal rib morphology, Abnormal hi... ORPHA:3068
Spondyloepimetaphyseal Dysplasia, Sponastrime Type
Genu varum, Metaphyseal irregularity, Genu valgum, Biconcave vertebral bodies, Coxa vara, Thoraci... OMIM:271510
Coach Syndrome 3
Molar tooth sign on MRI OMIM:619113
Trisomy 13
Patent ductus arteriosus, Kyphosis, Narrow chest, Abnormal pelvic girdle bone morphology, Postaxi... ORPHA:3378
Kyphomelic Dysplasia
Anterior rib cupping, Thoracic hypoplasia, Short metacarpal, Radial bowing, Flat acetabular roof,... OMIM:211350
Bruck Syndrome 2
Knee flexion contracture, Elbow flexion contracture, Pterygium, Femoral bowing, Platyspondyly, Pe... OMIM:609220
Osteogenesis Imperfecta, Type Xviii
Biconcave vertebral bodies, Femoral bowing, Umbilical hernia, Vertebral compression fracture, Bow... OMIM:617952
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Humeroradial synostosis, Aplasia/hypoplasia of the femur, Elbow flexion contracture, Hip dislocat... OMIM:276820
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Patent ductus arteriosus, Abnormal sternum morphology, Short ribs, Microcephaly, Hypoplasia of th... ORPHA:2519
Hypophosphatasia
Craniosynostosis, Narrow chest, Abnormal rib morphology, Abnormal metaphysis morphology, Bowing o... ORPHA:436
Joubert Syndrome 32
Molar tooth sign on MRI OMIM:617757
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Humeroradial synostosis, Elbow flexion contracture, Narrow pelvis bone, Camptodactyly, Metatarsal... ORPHA:95699
Gracile Bone Dysplasia
Slender long bone, Hydrocephalus, Flared metaphysis, Brachydactyly, Thin ribs OMIM:602361
Prune Belly Syndrome
Patent ductus arteriosus, Vertebral segmentation defect, Pectus excavatum, Congenital hip disloca... ORPHA:2970
Klippel-Feil Syndrome 1, Autosomal Dominant
Abnormal vertebral segmentation and fusion, Sprengel anomaly, Short neck, Scoliosis, Abnormal rib... OMIM:118100
Spondyloenchondrodysplasia
Abnormal periventricular white matter morphology, Decreased response to growth hormone stimulatio... ORPHA:1855
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Short tibia, Spinal dysraphism, Coxa valga, Thoracic hypoplasia, Epiphyseal stippling, Camptodact... ORPHA:96334
Spondyloenchondrodysplasia With Immune Dysregulation
Metaphyseal irregularity, Irregular vertebral endplates, Metaphyseal sclerosis, Increased interve... OMIM:607944
Joubert Syndrome 30
Molar tooth sign on MRI OMIM:617622
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2
Advanced ossification of carpal bones, Hypoplastic ilia, Hip dysplasia, Hip dislocation, Carpal s... OMIM:615349
Hall-Riggs Syndrome
Brachydactyly, Scoliosis, Microcephaly, Platyspondyly, Abnormal metaphysis morphology, Abnormal e... ORPHA:2107
Gm1-Gangliosidosis, Type Ii
Patent ductus arteriosus, Coxa valga, Hypoplastic vertebral bodies, Scoliosis, Cerebral atrophy, ... OMIM:230600
Adult Krabbe Disease
Abnormal pons morphology, Abnormal midbrain morphology, Abnormal medulla oblongata morphology ORPHA:206448
Fetal Akinesia Deformation Sequence 1
Camptodactyly of finger, Wrist flexion contracture, Hip contracture, Thoracic hypoplasia, Cavum s... OMIM:208150
Joubert Syndrome 6
Hypoplasia of the brainstem, Molar tooth sign on MRI, Elongated superior cerebellar peduncle, Thi... OMIM:610688
Geroderma Osteodysplasticum
Biconcave vertebral bodies, Irregular vertebral endplates, Hyperextensibility of the finger joint... OMIM:231070
Dental Anomalies And Short Stature
Intervertebral space narrowing, Narrow vertebral interpedicular distance, Herniation of intervert... OMIM:601216
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome
Abnormal intervertebral disk morphology, Osteoarthritis, Platyspondyly ORPHA:1345
Osteogenesis Imperfecta, Type Viii
Short metacarpal, Femoral retroversion, Kyphosis, Radial bowing, Slender long bone, Femoral bowin... OMIM:610915
Joubert Syndrome 14
Meningocele, Hypoplasia of the brainstem, Encephalocele, Molar tooth sign on MRI, Hydrocephalus OMIM:614424
Schimke Immunoosseous Dysplasia
Elevated circulating thyroid-stimulating hormone concentration, Thoracic kyphosis, Short neck, Ov... OMIM:242900
Joubert Syndrome 35
Molar tooth sign on MRI, Elongated superior cerebellar peduncle OMIM:618161
Slc35A2-Cdg
Abnormal midbrain morphology, Atrophy/Degeneration affecting the brainstem, Intrauterine growth r... ORPHA:356961
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type
Shortening of all metacarpals, Macrocephaly, Shortening of all phalanges of fingers, Platyspondyl... OMIM:601356
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Horizontal ribs, Cone-shaped epiphysis, Postaxial polydactyly, Thoracic hypoplasia, Short ribs, S... OMIM:613091
Czech Dysplasia
Short toe, Intervertebral space narrowing, Irregular vertebral endplates, Short femoral neck, Cox... OMIM:609162
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome
Cone-shaped epiphysis, Platyspondyly ORPHA:71267
Pagod Syndrome
Meningocele, Encephalocele, Spina bifida, Abnormal clavicle morphology, Microcephaly, Abnormal ri... ORPHA:991
Holzgreve Syndrome
Aplasia/Hypoplasia of the corpus callosum, Abnormal metacarpal morphology, Hand polydactyly, Abno... ORPHA:2167
Gm1 Gangliosidosis
Camptodactyly of finger, Patent ductus arteriosus, Hyperlordosis, Encephalomalacia, Kyphosis, Coa... ORPHA:354
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Patent ductus arteriosus, Neonatal death, Posterior rib fusion, Butterfly vertebrae OMIM:265380
Ollier Disease
Abnormal metaphysis morphology, Platyspondyly ORPHA:296
Dysosteosclerosis
Irregular vertebral endplates, Coarse metaphyseal trabecularization, Macrocephaly, Cerebral calci... ORPHA:1782
Camptodactyly Syndrome, Guadalajara Type 3
Broad femoral neck, Small hand, Spina bifida occulta, Thickened cortex of long bones, Short neck,... ORPHA:488434
Joubert Syndrome 3
Molar tooth sign on MRI, Elongated superior cerebellar peduncle OMIM:608629
Occipital Horn Syndrome
Delayed cranial suture closure, Coxa valga, Large iliac wing, Hip dislocation, Abnormality of the... ORPHA:198
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Abnormal rib morphology, Abnormality of the vertebral column, Sprengel anomaly OMIM:601076
Vater/Vacterl Association
Triphalangeal thumb, Patent ductus arteriosus, Abnormal sternum morphology, Spina bifida, Short t... OMIM:192350
Joubert Syndrome 2
Hypoplasia of the brainstem, Encephalocele, Molar tooth sign on MRI, Elongated superior cerebella... OMIM:608091
Bruck Syndrome
Kyphosis, Pterygium, Scoliosis, Platyspondyly, Bowing of the long bones, Wormian bones ORPHA:2771
Al-Gazali-Bakalinova Syndrome
Molar tooth sign on MRI OMIM:607131
Myhre Syndrome
Hypoplastic iliac wing, 2-3 toe syndactyly, Short toe, Patent ductus arteriosus, Cone-shaped epip... OMIM:139210
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe
Bifid sternum, Supraumbilical raphe OMIM:140850
Spondylo-Ocular Syndrome
Thoracic kyphosis, Abnormal intervertebral disk morphology, Short neck, Platyspondyly ORPHA:85194
Spondyloepimetaphyseal Dysplasia, Genevieve Type
Advanced ossification of carpal bones, Perisylvian polymicrogyria, Metaphyseal striations, Short ... OMIM:610442
Dextrocardia
Abnormal rib morphology, Congenital hip dislocation, Hydrocephalus ORPHA:1666
Occipital Horn Syndrome
Genu valgum, Coxa valga, Broad ribs, Capitate-hamate fusion, Kyphosis, Broad clavicles, Narrow ch... OMIM:304150
Blomstrand Lethal Chondrodysplasia
Metaphyseal cupping, Aplastic clavicle, Short thorax, Short metacarpal, Short ribs, Broad clavicl... ORPHA:50945
Mosaic Trisomy 8
Camptodactyly of finger, Patellar aplasia, Narrow chest, Vertebral segmentation defect, Narrow pe... ORPHA:96061
Smith-Lemli-Opitz Syndrome
2-3 toe syndactyly, Biparietal narrowing, Hip dislocation, Holoprosencephaly, Short neck, Postaxi... ORPHA:818
Laryngotracheoesophageal Cleft Type 4
Abnormal rib morphology, Abnormal form of the vertebral bodies ORPHA:93941
Joubert Syndrome With Oculorenal Defect
Hydrocephalus, Encephalocele, Molar tooth sign on MRI ORPHA:2318
Marshall Syndrome
Coxa valga, Hypoplastic ilia, Radial bowing, Irregular distal femoral epiphysis, Ulnar bowing, Cl... OMIM:154780
Schimke Immuno-Osseous Dysplasia
Ischemic stroke, Hypoplastic pelvis, Short neck, Ovoid vertebral bodies, Platyspondyly, Shallow a... ORPHA:1830
Joubert Syndrome With Renal Defect
Hydrocephalus, Encephalocele, Molar tooth sign on MRI ORPHA:220497
Antley-Bixler Syndrome
Camptodactyly of finger, Delayed cranial suture closure, Narrow chest, Elbow ankylosis, Narrow pe... ORPHA:83
Joubert Syndrome 8
Occipital encephalocele, Molar tooth sign on MRI OMIM:612291
Sponastrime Dysplasia
Hip subluxation, Flat capital femoral epiphysis, Ivory epiphyses of the phalanges of the hand, Hi... ORPHA:93357
Multiple Pterygium-Malignant Hyperthermia Syndrome
Camptodactyly of finger, Tapered finger, Finger syndactyly, Kyphosis, Ulnar deviation of finger, ... ORPHA:2215
Joubert Syndrome 37
Molar tooth sign on MRI OMIM:619185
Osteopetrosis, Autosomal Recessive 7
Lateral ventricle dilatation, Increased head circumference, Multiple rib fractures, Hydrocephalus... OMIM:612301
Osteoglophonic Dysplasia
Short phalanx of finger, Short foot, Short metacarpal, Craniosynostosis, Broad phalanx, Broad met... OMIM:166250
Thoracic Outlet Syndrome
Abnormal rib morphology ORPHA:97330
Mucopolysaccharidosis Type 3
Genu valgum, Avascular necrosis of the capital femoral epiphysis, Hip dysplasia, Hydrocephalus, M... ORPHA:581
Joubert Syndrome With Ocular Defect
Hydrocephalus, Encephalocele, Molar tooth sign on MRI ORPHA:220493
Fibrous Dysplasia Of Bone
Abnormality of the cervical spine, Coxa vara, Abnormality of femur morphology, Hyperpituitarism, ... ORPHA:249
Bone Fragility With Contractures, Arterial Rupture, And Deafness
Porencephalic cyst, Elbow flexion contracture, Platyspondyly, Contracture of the proximal interph... OMIM:612394
Campomelia, Cumming Type
Abnormal thorax morphology, Clubbing of toes, Brachydactyly, Abnormal rib morphology, Abnormally ... ORPHA:1318
Joubert Syndrome 17
Molar tooth sign on MRI OMIM:614615
Familial Osteodysplasia, Anderson Type
Aplastic clavicle, Kyphosis, Aplasia/hypoplasia of the femur, Missing ribs, Clinodactyly of the 5... ORPHA:2769
Coach Syndrome 1
Occipital encephalocele, Encephalocele, Molar tooth sign on MRI OMIM:216360
Coffin-Lowry Syndrome
Delayed closure of the anterior fontanelle, Coxa valga, Tapered finger, Short metacarpal, Hyperex... OMIM:303600
Fontaine Progeroid Syndrome
Patent ductus arteriosus, Cerebellar hypoplasia, Coronal craniosynostosis, Hydrocephalus, Syndact... OMIM:612289
Myhre Syndrome
Large iliac wing, Platyspondyly, Brachydactyly, Abnormal rib morphology, Abnormal metaphysis morp... ORPHA:2588
Infantile Liver Failure Syndrome 3
Abnormality of the epiphysis of the femoral head, Hypoplastic vertebral bodies, Platyspondyly, Ab... OMIM:618641
Osteoporosis-Pseudoglioma Syndrome
Biconcave vertebral bodies, Severe platyspondyly, Kyphosis, Barrel-shaped chest, Kyphoscoliosis, ... OMIM:259770
Simpson-Golabi-Behmel Syndrome
Camptodactyly of finger, Short toe, Vertebral fusion, Finger syndactyly, Toe syndactyly, Vertebra... ORPHA:373
Charge Syndrome
Patent ductus arteriosus, Aplasia/Hypoplasia of the cerebellum, Aqueductal stenosis, Anterior hyp... ORPHA:138
Autosomal Recessive Malignant Osteopetrosis
Craniosynostosis, Narrow chest, Hydrocephalus, Macrocephaly, Abnormal rib morphology, Abnormal me... ORPHA:667
Aspergillosis
Abnormal rib morphology, Abnormality of the vertebral column, Abnormal long bone morphology ORPHA:1163
Craniotubular Dysplasia, Ikegawa Type
Broad femoral neck, Increased intervertebral space, Macrocephaly, Platyspondyly, Short palm, 3-4 ... OMIM:619727
Pyknoachondrogenesis
Horizontal ribs, Enlarged thorax, Short thorax, Unossified sacrum, Increased head circumference, ... ORPHA:3003
Joubert Syndrome 1
Hypoplasia of the brainstem, Molar tooth sign on MRI, Elongated superior cerebellar peduncle, Bra... OMIM:213300
Osteogenesis Imperfecta, Type Xvii
Platyspondyly, Vertebral compression fracture, Scoliosis, Thin metacarpal cortices OMIM:616507
Calvarial Doughnut Lesions With Bone Fragility
Platyspondyly, Scoliosis, Femoral bowing OMIM:126550
Joubert Syndrome 39
Occipital encephalocele, Molar tooth sign on MRI OMIM:619562
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria
Short phalanx of finger, Abnormal globus pallidus morphology, Short neck, Large knee, Metaphyseal... ORPHA:99646
Duplication Of The Pituitary Gland
Abnormal midbrain morphology, Encephalocele ORPHA:314621
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Anencephaly, Hydrocephalus, Molar tooth sign on MRI OMIM:616546
Spondyloocular Syndrome
Overlapping toe, Platyspondyly, Long toe, Arachnodactyly, Femur fracture, Vertebral compression f... OMIM:605822
Radio-Renal Syndrome
Abnormality of the elbow, Hypoplasia of the radius, Short neck, Brachydactyly, Abnormal rib morph... ORPHA:3015
Simpson-Golabi-Behmel Syndrome, Type 1
2-3 finger syndactyly, Flared iliac wing, Cervical ribs, Pectus excavatum, Postaxial hand polydac... OMIM:312870
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1
Protrusio acetabuli, Joint dislocation, Progressive congenital scoliosis, Congenital hip dislocat... OMIM:225400
Orofaciodigital Syndrome Xvi
Molar tooth sign on MRI OMIM:617563
Charge Syndrome
Patent ductus arteriosus, Gonadotropin deficiency, Hand monodactyly, Decreased response to growth... OMIM:214800
Japanese Encephalitis
Abnormal pons morphology, Abnormal midbrain morphology, Abnormal substantia nigra morphology ORPHA:79139
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Horizontal inferior border of scapula, Anterior rib cupping, Growth arrest lines, Abnormal pelvic... OMIM:102700
Cerebellar-Facial-Dental Syndrome
Hypoplasia of the pons, Hypoplasia of the brainstem, Abnormal midbrain morphology ORPHA:444072
Autosomal Dominant Popliteal Pterygium Syndrome
Finger syndactyly, Toe syndactyly, Popliteal pterygium, Split hand, Scoliosis, Abnormal rib morph... ORPHA:1300
Amoebiasis Due To Free-Living Amoebae
Abnormal brainstem MRI signal intensity, Abnormal pons morphology, Abnormal midbrain morphology, ... ORPHA:68
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Meningocele, Occipital encephalocele, Molar tooth sign on MRI, Elongated superior cerebellar pedu... ORPHA:397715
Monosomy 9P
Abnormality of the tarsal bones, Postaxial hand polydactyly, Short neck, Proximal placement of th... ORPHA:261112
Ear-Patella-Short Stature Syndrome
Camptodactyly of finger, Aplastic clavicle, Patellar aplasia, Slender long bone, Clinodactyly of ... ORPHA:2554
Oculocerebrorenal Syndrome Of Lowe
Genu valgum, Patellar dislocation, Kyphosis, Arthritis, Hip dislocation, Joint swelling, Scoliosi... ORPHA:534
Stickler Syndrome
Protrusio acetabuli, Genu valgum, Joint dislocation, Kyphosis, Hip dislocation, Spinal canal sten... ORPHA:828
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia
Hypoplasia of the brainstem, Molar tooth sign on MRI OMIM:619306
Orofaciodigital Syndrome Vi
Arrhinencephaly, Occipital meningocele, Molar tooth sign on MRI OMIM:277170
Arima Syndrome
Brainstem dysplasia, Occipital meningocele, Hypoplasia of the brainstem, Molar tooth sign on MRI OMIM:243910
Ulbright-Hodes Syndrome
Short sternum, Ovoid thoracolumbar vertebrae, Humeroradial synostosis, Short ribs, Short metacarp... ORPHA:3404
Joubert Syndrome 5
Occipital encephalocele, Molar tooth sign on MRI, Thickened superior cerebellar peduncle OMIM:610188
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Camptodactyly of finger, Cerebral cortical atrophy, Subcortical cerebral atrophy, Kyphosis, Cereb... ORPHA:2273
Odontochondrodysplasia 2 With Hearing Loss And Diabetes
Short phalanx of finger, Short toe, Clinodactyly of the 5th finger, Cone-shaped epiphyses of the ... OMIM:619269
Orofaciodigital Syndrome Type 6
Molar tooth sign on MRI ORPHA:2754
Meckel Syndrome, Type 1
Molar tooth sign on MRI, Anencephaly, Hydrocephalus, Large placenta, Occipital encephalocele, Int... OMIM:249000
Joubert Syndrome 38
Molar tooth sign on MRI OMIM:619476
Hereditary Acrokeratotic Poikiloderma
Camptodactyly of finger, Finger syndactyly, Abnormal metacarpal morphology, Abnormal rib morpholo... ORPHA:2907
Townes-Brocks Syndrome
Triphalangeal thumb, Patent ductus arteriosus, Preaxial hand polydactyly, Aplasia/Hypoplasia of t... ORPHA:857
Lowe Oculocerebrorenal Syndrome
Camptodactyly of finger, Wrist swelling, Genu valgum, Finger swelling, Periventricular cysts, Joi... OMIM:309000
Wilson Disease
Face of the giant panda sign OMIM:277900
Short-Rib Thoracic Dysplasia 21 Without Polydactyly
Molar tooth sign on MRI OMIM:619479
Alagille Syndrome 1
Butterfly vertebral arch, Hypoplasia of the ulna, Abnormal rib morphology, Short distal phalanx o... OMIM:118450
Aspartylglucosaminuria
Spondylolysis, Kyphosis, Spondylolisthesis, Scoliosis, Microcephaly, Platyspondyly, Cerebral atro... OMIM:208400
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Abnormal midbrain morphology ORPHA:293987
Kindler Epidermolysis Bullosa
Camptodactyly of finger, Short 4th metacarpal, Finger syndactyly, Short 5th metacarpal, Abnormal ... ORPHA:2908
Orofaciodigital Syndrome Xiv
Occipital encephalocele, Holoprosencephaly, Molar tooth sign on MRI OMIM:615948
Orofaciodigital Syndrome Type 14
Molar tooth sign on MRI ORPHA:434179
Pmm2-Cdg
Increased circulating prolactin concentration, Elevated circulating thyroid-stimulating hormone 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.

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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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