Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
brachyury, T-box transcription factor T
Synonyms:
T1,  Bra,  Tbxt

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 T mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Neural Tube Defects, Susceptibility To
Sacral dimple, Anencephaly, Absence of the sacrum, Spina bifida occulta, Myelomeningocele, Hydroc... OMIM:182940
Sacral Agenesis With Vertebral Anomalies
Absence of the sacrum, Abnormal vertebral morphology OMIM:615709

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Spondylocostal Dysostosis 1, Autosomal Recessive
Back pain, Rib fusion, Death in infancy, Hemivertebrae, Vertebral fusion, Abnormality of the odon... OMIM:277300
Spondylosis, Cervical
Cervical spondylosis, Spondylolisthesis, Spondylolysis, Spina bifida occulta OMIM:184300
Acrodysplasia Scoliosis
Scoliosis, Vertebral segmentation defect, Spina bifida occulta ORPHA:2956
Neural Tube Defects, Susceptibility To
Sacral dimple, Anencephaly, Absence of the sacrum, Spina bifida occulta, Myelomeningocele, Hydroc... OMIM:182940
Spondylocostal Dysostosis 3, Autosomal Recessive
Scoliosis, Supernumerary vertebral ossification centers, Kyphosis, Rib fusion, Vertebral segmenta... OMIM:609813
Klippel-Feil Syndrome 3, Autosomal Dominant
Cervical C5/C6 vertebrae fusion, Cervical C3/C4 vertebral fusion, Thoracic scoliosis OMIM:613702
Spondylocostal Dysostosis 2, Autosomal Recessive
Rib fusion, Hemivertebrae, Short neck, Vertebral segmentation defect, Vertebral clefting OMIM:608681
Spondylocostal Dysostosis 4, Autosomal Recessive
Short thorax, Rib fusion, Hemivertebrae, Vertebral fusion, Abnormality of the odontoid process, M... OMIM:613686
Gluteal Muscles, Absence Of
Scoliosis, Spina bifida occulta OMIM:231970
Odontoid Hypoplasia
Atlantoaxial instability, Cervical instability, Dystopic os odontoideum, Hypoplasia of the odonto... OMIM:613628
Spermatogenic Failure 3
Infertility OMIM:606766
Spermatogenic Failure 17
Infertility OMIM:617214
Oocyte Maturation Defect 1
Infertility OMIM:615774
Oocyte Maturation Defect 3
Infertility OMIM:617712
Spermatogenic Failure 27
Infertility OMIM:617965
Oocyte Maturation Defect 4
Infertility OMIM:617743
Oocyte Maturation Defect 5
Infertility OMIM:617996
Spondylocostal Dysostosis 5
Scoliosis, Posterior rib fusion, Short neck, Low back pain, Pectus carinatum, Hemivertebrae, Vert... OMIM:122600
Klippel-Feil Syndrome 2, Autosomal Recessive
Scoliosis, Sprengel anomaly, Cervical C2/C3 vertebral fusion, Short neck, Fused cervical vertebrae OMIM:214300
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome
Scoliosis, Short middle phalanx of finger, Thoracic hemivertebrae, Fused cervical vertebrae, Abno... ORPHA:1436
Microcephaly With Cervical Spine Fusion Anomalies
Vertebral fusion, Spinal instability OMIM:251250
Asymmetric Short Stature Syndrome
Hemihypotrophy of lower limb, Lumbar scoliosis, Fused cervical vertebrae, Micrognathia OMIM:108450
Corneal Dystrophy, Fuchs Endothelial, 3
Edema OMIM:613267
Mental Retardation, Skeletal Dysplasia, And Abducens Palsy
Scoliosis, Short middle phalanx of finger, Thoracic hemivertebrae, Fused cervical vertebrae, Prom... OMIM:309620
Isolated Klippel-Feil Syndrome
Scoliosis, Abnormality of the vertebral column, Sprengel anomaly, Cervical C2/C3 vertebral fusion... ORPHA:2345
Cervical Vertebral Dysplasia
Cervical vertebral facet hypoplasia, Cervical vertebral dysplasia, Anterior atlanto-occipital dis... OMIM:118005
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods
Fusion of midcervical facet joints, Widening of cervical spinal canal, Cervical vertebral bodies ... OMIM:606842
Wildervanck Syndrome
Fused cervical vertebrae OMIM:314600
Kyphomelic Dysplasia
Anterior rib cupping, Lateral clavicle hook, Short thorax, Narrow chest, Abnormal form of the ver... ORPHA:1801
Metatropic Dysplasia
Scoliosis, Platyspondyly, Arthrogryposis multiplex congenita, Anisospondyly, Long coccyx, Abnorma... OMIM:156530
Spastic Paraplegia 25, Autosomal Recessive
Spinal cord compression, Back pain OMIM:608220
Sprengel Deformity
Scoliosis, Cervical segmentation defect, Spina bifida occulta, Hemivertebrae OMIM:184400
Dextrocardia With Unusual Facies And Microphthalmia
Vertebral fusion, Supernumerary ribs, Vertebral segmentation defect, Micrognathia OMIM:221950
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Hyperlordosis, Abnormal clavicle morphology, Micrognathia, Kyphosis, Pectus excavatum, Abnormalit... ORPHA:2522
Schneckenbecken Dysplasia
Anterior rib cupping, Lateral clavicle hook, Advanced tarsal ossification, Stillbirth, Narrow che... OMIM:269250
Vertebral Fusion, Posterior Lumbosacral, With Blepharoptosis
Posterior fusion of lumbosacral vertebrae OMIM:192800
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B
Scoliosis, Tarsal synostosis, Flexion contracture, Fused thoracic vertebrae, Antecubital pterygiu... OMIM:618469
Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome
Tarsal synostosis, Abnormal form of the vertebral bodies, Posterior fusion of lumbosacral vertebr... ORPHA:2064
Autosomal Dominant Spondylocostal Dysostosis
Scoliosis, Hyperlordosis, Short thorax, Posterior rib fusion, Vertebral segmentation defect, Spin... ORPHA:1797
Thanatophoric Dysplasia, Type Ii
Platyspondyly, Narrow chest, Wide-cupped costochondral junctions, Short ribs, Neonatal death, Sma... OMIM:187601
Familial Congenital Mirror Movements
Fused cervical vertebrae ORPHA:238722
Poland Syndrome
Sprengel anomaly, Rib fusion, Short ribs, Hemivertebrae, Unilateral oligodactyly OMIM:173800
Spondylometaphyseal Dysplasia With Corneal Dystrophy
Lumbar platyspondyly, Narrow chest, Beaking of vertebral bodies, Short ribs, Limb undergrowth, Co... OMIM:618961
Diaphanospondylodysostosis
Short thorax, Enlarged thorax, Absent or minimally ossified vertebral bodies, Abnormal vertebral ... ORPHA:66637
Acropectorovertebral Dysplasia
Abnormal vertebral morphology, Spina bifida occulta at L5, Spina bifida occulta at S1, Short thumb OMIM:102510
Vertebral Hypoplasia With Lumbar Kyphosis
Vertebral hypoplasia, Lumbar kyphosis OMIM:192900
Thoracomelic Dysplasia
Hyperlordosis, Genu valgum, Narrow chest, Elbow dislocation, Joint hyperflexibility, Bell-shaped ... ORPHA:1803
Sacral Agenesis With Vertebral Anomalies
Absence of the sacrum, Abnormal vertebral morphology OMIM:615709
Acrofacial Dysostosis, Palagonia Type
Scoliosis, Short 4th metacarpal, Abnormal vertebral morphology, Spina bifida occulta at S1, Hypop... OMIM:601829
Achondrogenesis, Type Ib
Narrow chest, Stillbirth, Short ribs, Absent or minimally ossified vertebral bodies, Micromelia OMIM:600972
Lipedema
Edema OMIM:614103
Spondyloepimetaphyseal Dysplasia, Shohat Type
Vertebral hypoplasia, Platyspondyly, Joint laxity, Central vertebral hypoplasia, Bell-shaped thor... OMIM:602557
Chondrocalcinosis Due To Apatite Crystal Deposition
Costal cartilage calcification, Chondrocalcinosis, Osteoarthritis of the small joints of the hand... OMIM:118610
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Short thorax, Death in infancy, Sacral dimple, Vertebral fusion, Vertebral segmentation defect OMIM:618845
Achondrogenesis, Type Ia
Hypoplasia of the radius, Abnormal hand bone ossification, Short neck, Stillbirth, Barrel-shaped ... OMIM:200600
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Scoliosis, Radioulnar synostosis, Pectus carinatum, Abnormality of the elbow, Abnormality of the ... ORPHA:3268
Neural Tube Defects, Folate-Sensitive
Spinal dysraphism OMIM:601634
Split-Hand With Obstructive Uropathy, Spina Bifida, And Diaphragmatic Defects
Thoracolumbar scoliosis, Myelomeningocele, Hydrocephalus, Spina bifida occulta OMIM:183802
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Disc-like vertebral bodies, Narrow chest, Decreased cranial base ossification, Severe limb shorte... OMIM:151210
Nevus Comedonicus Syndrome
Scoliosis, Spina bifida, Abnormal vertebral morphology, Spina bifida occulta ORPHA:64754
Achondrogenesis Type 2
Delayed pubic bone ossification, Abnormal bone ossification, Delayed proximal femoral epiphyseal ... ORPHA:93296
Nuchal Bleb, Familial
Hydrops fetalis, Fetal cystic hygroma, Stillbirth OMIM:257350
Thoracolaryngopelvic Dysplasia
Scoliosis, Horizontal ribs, Irregular vertebral endplates, Short ribs, Bell-shaped thorax, Irregu... OMIM:187760
Fibrodysplasia Ossificans Progressiva
Scoliosis, Small cervical vertebral bodies, Short hallux, Ectopic ossification in muscle tissue, ... OMIM:135100
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type
Scoliosis, Platyspondyly, Genu valgum, Decreased hip abduction, Pectus carinatum, Thoracic kyphos... OMIM:609223
Klippel-Feil Syndrome 1, Autosomal Dominant
Scoliosis, Sprengel anomaly, Cervical C2/C3 vertebral fusion, Abnormal vertebral segmentation and... OMIM:118100
Brachyolmia, Maroteaux Type
Scoliosis, Platyspondyly, Short thorax, Abnormal form of the vertebral bodies, Pectus excavatum ORPHA:93302
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism
Micrognathia, Flexion contracture, Cervical C2/C3 vertebral fusion, Acetabular dysplasia, Thoraco... OMIM:616549
Chondrodysplasia, Blomstrand Type
Accelerated skeletal maturation, Advanced tarsal ossification, Stillbirth, Generalized osteoscler... OMIM:215045
Spina Bifida-Hypospadias Syndrome
Spina bifida, Spinal dysraphism ORPHA:3176
Neuronal Intranuclear Inclusion Disease
Scoliosis, Spina bifida occulta, Abnormal form of the vertebral bodies ORPHA:2289
Wildervanck Syndrome
Short neck, Fused cervical vertebrae ORPHA:3456
Multiple Synostoses Syndrome 2
Humeroradial synostosis, Tarsal synostosis, Proximal symphalangism, Vertebral fusion, Finger symp... OMIM:610017
Ophthalmoplegia, External, With Rib And Vertebral Anomalies
Scoliosis, Pectus excavatum, Missing ribs, Short ribs OMIM:618155
Endosteal Hyperostosis, Worth Type
Sclerotic vertebral body, Abnormal form of the vertebral bodies, Craniofacial hyperostosis, Gener... ORPHA:2790
Cervical Vertebrae, Agenesis Of
Cervical vertebral agenesis OMIM:214290
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia
Delayed pubic bone ossification, Genu valgum, Flexion contracture, Short ribs, Abnormally ossifie... OMIM:613330
Kniest Dysplasia
Platyspondyly, Arthropathy, Enlarged joints, Flexion contracture of finger, Short thorax, Coronal... ORPHA:485
Iniencephaly
Hyperlordosis, Mandibular aplasia, Spina bifida, Holoprosencephaly, Rhizomelia, Spinal dysraphism... ORPHA:63259
Thanatophoric Dysplasia, Type I
Narrow chest, Wide-cupped costochondral junctions, Short ribs, Severe platyspondyly, Neonatal dea... OMIM:187600
Osteopathia Striata-Pigmentary Dermopathy-White Forelock Syndrome
Coarse metaphyseal trabecularization, Osteopathia striata, Abnormal diaphysis morphology, Abnorma... ORPHA:2779
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A
Scoliosis, Multiple pterygia, Arthrogryposis multiplex congenita, Craniosynostosis, Tarsal synost... OMIM:178110
Fibrochondrogenesis 2
Platyspondyly, Thoracic hypoplasia, Bell-shaped thorax, Short ribs, Micrognathia OMIM:614524
Atelosteogenesis, Type I
Fibular aplasia, Short femur, Short metatarsal, Stillbirth, Elbow dislocation, Coronal cleft vert... OMIM:108720
Acrocapitofemoral Dysplasia
Scoliosis, Narrow chest, Ovoid vertebral bodies, Short distal phalanx of finger, Short femoral ne... OMIM:607778
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Platyspondyly, Thoracic hypoplasia, Short ribs, Micrognathia, Vertebral wedging, Micromelia OMIM:617866
Achondrogenesis, Type Ii
Stillbirth, Horizontal ribs, Absent vertebral body mineralization, Short ribs, Barrel-shaped chest OMIM:200610
Autosomal Dominant Brachyolmia
Platyspondyly, Increased vertebral height, Short thorax, Kyphoscoliosis ORPHA:93304
Cardiospondylocarpofacial Syndrome
Scoliosis, Tarsal synostosis, Joint laxity, Synostosis of carpals/tarsals, Rib fusion, Short foot... OMIM:157800
Acrofacial Dysostosis, Catania Type
Short palm, Spina bifida occulta OMIM:101805
Lamb-Shaffer Syndrome
Scoliosis, Thoracic kyphosis, Micrognathia, Fused cervical vertebrae ORPHA:530983
Angioedema, Hereditary, 6
Angioedema, Edema of the dorsum of hands, Facial edema OMIM:619363
Symbrachydactyly Of Hands And Feet
Scoliosis, Aplasia/Hypoplasia of the radius, Aplasia/Hypoplasia of the thumb, Vertebral segmentat... ORPHA:1570
Becker Nevus Syndrome
Scoliosis, Pectus carinatum, Kyphosis, Pectus excavatum, Rib fusion, Spina bifida occulta, Supern... ORPHA:64755
Kbg Syndrome
Thoracic kyphosis, Rib fusion, Vertebral fusion, Cervical ribs, Delayed skeletal maturation, Vert... OMIM:148050
Brachydactyly, Type B1
Hypoplastic sacrum, Wide anterior fontanel, Short middle phalanx of finger, Camptodactyly, Hemive... OMIM:113000
Hypophosphatasia, Infantile
Platyspondyly, Craniosynostosis, Stillbirth, Decreased calvarial ossification, Death in infancy, ... OMIM:241500
Femoral-Facial Syndrome
Scoliosis, Short femur, Radioulnar synostosis, Sprengel anomaly, Rib fusion, Aplasia/Hypoplasia o... ORPHA:1988
Pelvic Dysplasia-Arthrogryposis Of Lower Limbs Syndrome
Sacrococcygeal pilonidal abnormality, Spina bifida occulta ORPHA:2840
Pyknoachondrogenesis
Stillbirth OMIM:265880
Osteoarthritis With Mild Chondrodysplasia
Platyspondyly, Beaking of vertebral bodies, Hip osteoarthritis, Irregular vertebral endplates, Jo... OMIM:604864
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis
Osteolysis, Periostitis, Joint swelling, Broad ribs, Flaring of rib cage, Osteopenia, Fused cervi... OMIM:612852
Three M Syndrome 1
Hyperlordosis, Joint hypermobility, Increased vertebral height, Short thorax, Scapular winging, P... OMIM:273750
Craniofacial Conodysplasia
Spinal cord compression, Hydrocephalus ORPHA:85168
Brachyolmia Type 1, Hobaek Type
Scoliosis, Short neck, Pectus carinatum, Kyphosis, Back pain, Flat acetabular roof, Intervertebra... OMIM:271530
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome
Short 3rd metacarpal, Short 5th metacarpal, Short distal phalanx of finger, Cervical C2/C3 verteb... ORPHA:370010
Stapes Ankylosis With Broad Thumbs And Toes
Fused cervical vertebrae, Proximal/middle symphalangism of 5th finger, Short distal phalanx of fi... OMIM:184460
Heart Defects-Limb Shortening Syndrome
Accelerated skeletal maturation, Narrow chest, Abnormal form of the vertebral bodies, Mesomelic/r... ORPHA:1354
Frontometaphyseal Dysplasia 1
Scoliosis, Camptodactyly of finger, Genu valgum, Anteriorly placed odontoid process, Scapular win... OMIM:305620
Spondylometaphyseal Dysplasia, Corner Fracture Type
Scoliosis, Ovoid vertebral bodies, Hyperconvex vertebral body endplates, Short femoral neck, Hypo... OMIM:184255
Hypomyelination With Brainstem And Spinal Cord Involvement And Leg Spasticity
Spina bifida occulta, Tethered cord OMIM:615281
Fibrochondrogenesis 1
Camptodactyly, Short neck, Thin clavicles, Posterior vertebral hypoplasia, Wide anterior fontanel... OMIM:228520
Isotretinoin Syndrome
Sacral dimple, Micrognathia, Spina bifida occulta ORPHA:2305
Infantile-Onset X-Linked Spinal Muscular Atrophy
Arthrogryposis multiplex congenita, Short ribs, Interphalangeal joint contracture of finger, Knee... ORPHA:1145
Rhizomelic Dysplasia, Scoliosis, And Retinitis Pigmentosa
Scoliosis, Broad ribs, Biconcave vertebral bodies, Rhizomelia, Short ribs, Short humerus, Short c... OMIM:610319
Thrombocytopenia-Absent Radius Syndrome
Scoliosis, Fibular aplasia, Fused cervical vertebrae, Aplasia/Hypoplasia of the patella, Cervical... ORPHA:3320
Spondyloepiphyseal Dysplasia Tarda, Kohn Type
Abnormality of the knee, Platyspondyly, Abnormal vertebral morphology, Restricted large joint mov... ORPHA:163665
Osteodysplasty, Precocious, Of Danks, Mayne, And Kozlowski
Abnormality of long bone morphology, Abnormality of pelvic girdle bone morphology, Short finger, ... OMIM:259270
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Scoliosis, Supernumerary vertebrae, Rib fusion, Short ribs, Hemivertebrae, Vertebral fusion, Thin... OMIM:271520
Pelvis-Shoulder Dysplasia
Hypoplastic scapulae, Back pain, Lumbar hyperlordosis, Spina bifida occulta, Short clavicles OMIM:169550
Lethal Kniest-Like Dysplasia
Anterior rib cupping, Platyspondyly, Abnormal cartilage matrix, Wide anterior fontanel, Coronal c... ORPHA:2347
Multiple Pterygium Syndrome, X-Linked
Multiple pterygia, Short finger, Flexion contracture, Vertebral fusion, Thin ribs, Abnormal cervi... OMIM:312150
Craniodigital-Intellectual Disability Syndrome
Micrognathia, Spina bifida occulta ORPHA:1514
Verheij Syndrome
Scoliosis, Hemivertebrae, Vertebral fusion, Hip dislocation, Short neck, Short 5th finger OMIM:615583
Spondyloepiphyseal Dysplasia, Stanescu Type
Platyspondyly, Beaking of vertebral bodies, Joint stiffness, Kyphoscoliosis, Stiff neck OMIM:616583
Metatropic Dysplasia
Scoliosis, Camptodactyly of finger, Hypoplastic cervical vertebrae, Abnormal enchondral ossificat... ORPHA:2635
Otopalatodigital Syndrome Type 1
Short hallux, Synostosis of carpal bones, Elbow dislocation, Hypoplastic frontal sinuses, Increas... ORPHA:90650
Autosomal Recessive Spondylocostal Dysostosis
Scoliosis, Camptodactyly of finger, Short thorax, Abnormal form of the vertebral bodies, Rib segm... ORPHA:2311
Multiple Pterygium Syndrome, Lethal Type
Multiple pterygia, Short finger, Flexion contracture, Vertebral fusion, Thin ribs, Abnormal cervi... OMIM:253290
Dysosteosclerosis
Platyspondyly, Delayed closure of the anterior fontanelle, Sclerosis of hand bone, Broad ribs, Na... OMIM:224300
Spondylometaphyseal Dysplasia, A4 Type
Platyspondyly, Flared, irregular rib ends, Limitation of joint mobility, Short palm, Micromelia ORPHA:168555
Bone Dysplasia, Lethal Holmgren Type
Narrow chest, Joint hyperflexibility, Abnormality of the elbow, Rhizomelia, Bell-shaped thorax, S... ORPHA:1842
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Wormian bones, Narrow chest, Dysplastic sacrum, Bell-shaped thorax, Severe platyspondyly, Short r... OMIM:613320
Fibrochondrogenesis
Camptodactyly of finger, Broad ribs, Narrow chest, Abnormal form of the vertebral bodies, Wide an... ORPHA:2021
Spondylocamptodactyly Syndrome
Scoliosis, Platyspondyly, Camptodactyly of finger ORPHA:3180
Spondyloepiphyseal Dysplasia, Kimberley Type
Platyspondyly, Genu valgum, Delayed skeletal maturation, Genu varum OMIM:608361
Greenberg Dysplasia
Epiphyseal stippling, Narrow chest, Abnormal pelvis bone ossification, Abnormal scapula morpholog... OMIM:215140
Keratoconus Posticus Circumscriptus
Short neck, Limited elbow extension and supination, Abnormal vertebral segmentation and fusion OMIM:244600
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Wormian bones, Platyspondyly, Short femur, Micrognathia, Thoracic hypoplasia, Beaded ribs, Flexio... OMIM:616897
Ring Chromosome 21 Syndrome
Scoliosis, Abnormal thorax morphology, Fused thoracic vertebrae, Thoracic hemivertebrae, Small hand ORPHA:1445
Neural Tube Defects, X-Linked
Spina bifida, Anencephaly OMIM:301410
Anencephaly 1
Spina bifida, Anencephaly OMIM:206500
Developmental And Speech Delay Due To Sox5 Deficiency
Scoliosis, Thoracic kyphoscoliosis, Pectus carinatum, Vertebral fusion, Lumbar hyperlordosis, But... ORPHA:313892
Vater-Like Defects With Pulmonary Hypertension, Laryngeal Webs, And Growth Deficiency
Abnormal rib cage morphology, Pectus excavatum, Posterior rib fusion, Hemivertebrae OMIM:608406
Rhizomelic Chondrodysplasia Punctata
Scoliosis, Rhizomelia, Limb undergrowth, Spina bifida occulta ORPHA:177
Kbg Syndrome
Scoliosis, Thoracic kyphosis, Persistent open anterior fontanelle, Vertebral fusion, Cervical rib... ORPHA:2332
Second Metatarsal-Metacarpal Syndrome
Platyspondyly, Synostosis of carpals/tarsals OMIM:269630
Osteogenesis Imperfecta, Type Ix
Scoliosis, Platyspondyly, Wormian bones, Pectus carinatum, Decreased calvarial ossification, Bead... OMIM:259440
Spinal Dysplasia, Anhalt Type
Narrow anterio-posterior vertebral body diameter, Thoracic hemivertebrae, Spinal dysplasia, Thora... OMIM:601344
Multiple Pterygium Syndrome, Escobar Variant
Scoliosis, Dislocated radial head, Axillary pterygium, Arthrogryposis multiplex congenita, Anteri... OMIM:265000
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Sprengel anomaly, Pectus excavatum, Spina bifida occulta, Fused cervical vertebrae, Butterfly ver... OMIM:619227
Spondyloepiphyseal Dysplasia Tarda With Mental Retardation
Anterior beaking of lumbar vertebrae, Platyspondyly OMIM:271620
Multiple Epiphyseal Dysplasia Type 5
Multiple small vertebral fractures, Genu valgum, Intervertebral disc degeneration, Decreased hip ... ORPHA:93311
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Scoliosis, Hyperlordosis, Kyphosis, Achilles tendon contracture, Vertebral fusion OMIM:606612
Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly
Scoliosis, Narrow chest, Short ribs OMIM:613819
Brachydactylous Dwarfism, Mseleni Type
Platyspondyly, Osteoarthritis of the elbow, Protrusio acetabuli, Stiff shoulders, Hip osteoarthri... ORPHA:2619
Microphthalmia, Syndromic 3
Vertebral hypoplasia, Rib fusion, Hemivertebrae, Vertebral fusion, Supernumerary ribs, Missing ri... OMIM:206900
Bruck Syndrome 1
Osteoporosis, Platyspondyly, Scoliosis, Protrusio acetabuli, Joint laxity, Pectus carinatum, Kyph... OMIM:259450
Spondyloepiphyseal Dysplasia, Maroteaux Type
Genu valgum, Platyspondyly OMIM:184095
Mesomelic Dysplasia, Kantaputra Type
Cubitus valgus, Camptodactyly of finger, Tarsal synostosis, Synostosis of carpal bones, Mesomelia... ORPHA:1836
Epiphyseal Dysplasia, Multiple, 7
Platyspondyly, Flat acetabular roof, Genu varum, Advanced ossification of carpal bones, Vertebral... OMIM:617719
Spondyloepimetaphyseal Dysplasia, Di Rocco Type
Irregular acetabular roof, Platyspondyly, Genu varum, Delayed ossification of carpal bones OMIM:617974
Pulmonary Hypoplasia, Primary
Neonatal death OMIM:265430
Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant
Platyspondyly, Pectus carinatum, Barrel-shaped chest, Knee pain, Irregular vertebral endplates, L... OMIM:184100
Spondylometaphyseal Dysplasia, Type A4
Platyspondyly, Pectus carinatum, Ovoid vertebral bodies, Osteoporotic tarsals, Irregular patellae... OMIM:609052
Spondylocamptodactyly
Scoliosis, Camptodactyly of finger, Camptodactyly, Cervical platyspondyly OMIM:600000
Osteomesopyknosis
Scoliosis, Sclerotic vertebral body, Abnormal form of the vertebral bodies, Kyphosis, Abnormal co... ORPHA:2777
Brachyolmia Type 1, Toledo Type
Back pain, Irregular vertebral endplates, Intervertebral space narrowing, Precocious costochondra... OMIM:271630
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia
Mesomelic arm shortening, Lateral clavicle hook, Radioulnar synostosis, Elbow dislocation, Short ... OMIM:171480
Spondylocostal Dysostosis-Anal Atresia-Genitourinary Malformation Syndrome
Scoliosis, Narrow chest, Rib fusion, Hemivertebrae, Vertebral fusion, 11 pairs of ribs, Short neck ORPHA:94095
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Platyspondyly, Rhizomelia, Thin ribs, Hypoplasia of the calcaneus, Decreased skull ossification, ... OMIM:300863
Bone Dysplasia, Lethal, Holmgren Type
Narrow chest, Bell-shaped thorax, Short ribs OMIM:211120
Thoracic Dysostosis, Isolated
Pectus excavatum, Bell-shaped thorax, Short ribs OMIM:187750
Dysspondyloenchondromatosis
Scoliosis, Genu valgum, Platyspondyly, Enlarged joints, Anisospondyly, Generalized joint laxity, ... ORPHA:85198
Polydactyly, Postaxial, With Dental And Vertebral Anomalies
Tarsal synostosis, Narrow chest, Pectus carinatum, Short middle phalanx of finger, Pectus excavat... OMIM:263540
Spondyloepimetaphyseal Dysplasia, Irapa Type
Osteoporosis, Genu valgum, Platyspondyly, Upper limb undergrowth, Short metatarsal, Synostosis of... ORPHA:93351
Cerebrofaciothoracic Dysplasia
Scoliosis, Narrow chest, Sprengel anomaly, Rib fusion, Hemivertebrae, Short neck, Vertebral segme... ORPHA:1394
Brachyolmia Type 2
Platyspondyly OMIM:613678
Spondylometaphyseal Dysplasia, X-Linked
Platyspondyly, Enlarged joints, Pectus carinatum, Kyphosis, Thoracolumbar scoliosis, Knee flexion... OMIM:313420
Lymphatic Malformation 8
Polyhydramnios, Stillbirth, Pleural effusion, Pericardial effusion, Nonimmune hydrops fetalis, Ge... OMIM:618773
Ossification Of The Posterior Longitudinal Ligament Of Spine
Spinal cord compression, Myelopathy, Abnormality of the vertebral column OMIM:602475
Absence Deformity Of Leg-Cataract Syndrome
Anal atresia, Lower limb undergrowth, Abnormality of femur morphology, Abnormality of epiphysis m... ORPHA:2310
Acrofacial Dysostosis, Palagonia Type
Scoliosis, Short 4th metacarpal, Abnormal form of the vertebral bodies, Micrognathia, Small hand,... ORPHA:1787
Greenberg Dysplasia
Platyspondyly, Abnormal bone ossification, Narrow chest, Abnormal form of the vertebral bodies, R... ORPHA:1426
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Abnormal form of the vertebral bodies, Joint hyperflexibility, Hemivertebrae, Abnormality of the ... ORPHA:2759
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis
Scoliosis, Spina bifida occulta OMIM:618736
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome
Scoliosis, Elbow dislocation, Abnormal form of the vertebral bodies, Kyphosis, Hemivertebrae, Ver... ORPHA:2916
Hypertelorism And Tetralogy Of Fallot
Spina bifida occulta OMIM:239711
Mosaic Trisomy 20
Scoliosis, Narrow chest, Kyphosis, Down-sloping shoulders, Vertebral segmentation defect, Vertebr... ORPHA:1724
Fanconi Anemia, Complementation Group I
Hypoplasia of the radius, Short 1st metacarpal, Short thumb, Absent thumb, Short neck, Fused cerv... OMIM:609053
Thoracomelic Dysplasia
Bell-shaped thorax, Short ribs OMIM:273740
Mucolipidosis Iii Alpha/Beta
Scoliosis, Craniosynostosis, Irregular carpal bones, Broad ribs, Carpal bone hypoplasia, Short ri... OMIM:252600
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Scoliosis, Vertebral hypoplasia, Epiphyseal stippling, Congenital hip dislocation, Stillbirth, Hy... OMIM:308050
Spondyloepiphyseal Dysplasia, Kimberley Type
Platyspondyly, Short thorax, Osteoarthritis ORPHA:93283
Craniosynostosis 6
Scoliosis, Spina bifida occulta OMIM:616602
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density
Hypoplasia of the radius, Lumbar platyspondyly, Short femur, Absent ossification of cervical vert... OMIM:601376
Hyperparathyroidism, Transient Neonatal
Thin ribs, Osteopenia, Narrow chest, Short ribs OMIM:618188
Pyle Disease
Scoliosis, Platyspondyly, Genu valgum, Limited elbow extension, Abnormal thorax morphology, Reduc... OMIM:265900
Blomstrand Lethal Chondrodysplasia
Accelerated skeletal maturation, Platyspondyly, Short thorax, Narrow chest, Synostosis of joints,... ORPHA:50945
Basal Cell Nevus Syndrome
Irregular ossification of hand bones, Scoliosis, Short 4th metacarpal, Abnormal sternum morpholog... OMIM:109400
Progressive Pseudorheumatoid Arthropathy Of Childhood
Scoliosis, Irregularity of vertebral bodies, Abnormal hip joint morphology, Enlarged interphalang... ORPHA:1159
Braddock Syndrome
Scoliosis, Micrognathia, Pectus excavatum, Hemivertebrae, Short neck, Missing ribs ORPHA:52047
Diastrophic Dysplasia
Hypoplastic cervical vertebrae, Short finger, Spinal cord compression, Cervical kyphosis, Kyphosc... OMIM:222600
Anus, Imperforate
Ectopic anus, Anal atresia OMIM:301800
Gorlin Syndrome
Vertebral fusion, Scoliosis, Vertebral wedging, Hemivertebrae ORPHA:377
Pallister-Hall-Like Syndrome
Death in infancy, Short ribs, Hip dislocation, Micrognathia, Micromelia OMIM:241800
Aarskog-Scott Syndrome
Camptodactyly of finger, Genu recurvatum, Joint hyperflexibility, Pectus excavatum, Short foot, S... ORPHA:915
Pseudoachondroplasia
Scoliosis, Irregular carpal bones, Joint laxity, Flat acetabular roof, Joint stiffness, Acetabula... ORPHA:750
Spondylometaphyseal Dysplasia, Kozlowski Type
Irregular acetabular roof, Platyspondyly, Enlarged joints, Pectus carinatum, Carpal bone hypoplas... OMIM:184252
Hernia, Anterior Diaphragmatic
Neonatal death OMIM:306950
Seckel Syndrome 4
11 pairs of ribs, Steep acetabular roof OMIM:613676
Cleidocranial Dysplasia
Scoliosis, Wormian bones, Narrow chest, Persistent open anterior fontanelle, Hypoplastic frontal ... OMIM:119600
Pseudodiastrophic Dysplasia
Scoliosis, Platyspondyly, Phalangeal dislocation, Elbow dislocation ORPHA:85174
Morquio Syndrome C
Platyspondyly OMIM:252300
Spondyloepimetaphyseal Dysplasia, Irapa Type
Hypoplastic sacrum, Limited elbow extension, Genu valgum, Platyspondyly, Short metatarsal, Upper ... OMIM:271650
Spondylocostal Dysostosis 6, Autosomal Recessive
Scoliosis, Hemivertebrae, Cervical kyphosis, Spinal canal stenosis, Butterfly vertebrae OMIM:616566
White Forelock With Malformations
Spina bifida occulta ORPHA:2475
Schneckenbecken Dysplasia
Accelerated skeletal maturation, Lateral clavicle hook, Advanced tarsal ossification, Narrow ches... ORPHA:3144
Pyknoachondrogenesis
Short thorax, Poorly ossified vertebrae, Enlarged thorax, Craniofacial hyperostosis, Horizontal r... ORPHA:3003
Kniest-Like Dysplasia, Lethal
Platyspondyly, Broad ribs, Coronal cleft vertebrae, Narrow chest, Wide anterior fontanel, Rhizome... OMIM:245190
Lymphatic Malformation 11
Lymphedema, Pedal edema OMIM:619401
Otopalatodigital Syndrome, Type Ii
Short hallux, Wormian bones, Nonossified fifth metatarsal, Delayed closure of the anterior fontan... OMIM:304120
Lateral Meningocele Syndrome
Scoliosis, Joint hypermobility, Wormian bones, Biconcave vertebral bodies, Micrognathia, Kyphosis... OMIM:130720
Frontometaphyseal Dysplasia
Scoliosis, Limited wrist movement, Craniosynostosis, Short metatarsal, Limitation of knee mobilit... ORPHA:1826
Coxopodopatellar Syndrome
Hip dysplasia, Aplasia/Hypoplasia of the patella, Abnormality of pelvic girdle bone morphology, A... ORPHA:1509
Metaphyseal Dysostosis, Mental Retardation, And Conductive Deafness
Scoliosis, Genu valgum, Joint laxity, Carpal bone hypoplasia, Short ribs, Lumbar hyperlordosis, I... OMIM:250420
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Scoliosis, Hyperlordosis, Kyphosis, Achilles tendon contracture, Vertebral fusion OMIM:607155
Spondyloepimetaphyseal Dysplasia, Handigodu Type
Abnormality of the knee, Platyspondyly, Hip subluxation, Protrusio acetabuli, Abnormality of the ... ORPHA:99642
Disorder Of Sex Development-Intellectual Disability Syndrome
Kyphosis, Short neck, Spina bifida occulta ORPHA:2983
Anal Sphincter Myopathy, Internal
Abnormality of the anus OMIM:105565
Spondyloepiphyseal Dysplasia Tarda
Scoliosis, Limited wrist movement, Localized osteoporosis, Joint swelling, Thoracic kyphosis, Lim... ORPHA:93284
Lowe-Kohn-Cohen Syndrome
Anorectal anomaly, Anal atresia ORPHA:2408
Atelosteogenesis Type Ii
Narrow chest, Elbow dislocation, Camptodactyly, Short lower limbs, Short neck, Micrognathia, Elbo... ORPHA:56304
Osteogenesis Imperfecta, Type V
Joint hypermobility, Wormian bones, Platyspondyly, Biconcave vertebral bodies, Recurrent fracture... OMIM:610967
Holoprosencephaly, Semilobar, With Craniosynostosis
Semilobar holoprosencephaly, Hypoplastic vertebral bodies, Short distal phalanx of finger OMIM:601370
Pelvis-Shoulder Dysplasia
Camptodactyly of finger, Dislocated radial head, Aplasia/Hypoplasia of the scapulae, Abnormal for... ORPHA:2839
Fountain Syndrome
Scoliosis, Spina bifida, Abnormal form of the vertebral bodies, Kyphosis, Short distal phalanx of... ORPHA:3219
Pontine Tegmental Cap Dysplasia
Scoliosis, Rib fusion, Ankle clonus, Hemivertebrae OMIM:614688
Dyssegmental Dysplasia, Silverman-Handmaker Type
Anisospondyly, Narrow chest, Micrognathia, Flexion contracture, Short ribs, Limb undergrowth, Pte... ORPHA:1865
Meier-Gorlin Syndrome 1
Absent glenoid fossa, Joint laxity, Elbow dislocation, Camptodactyly, Hemivertebrae, Micrognathia... OMIM:224690
Thrombocytopenia-Absent Radius Syndrome
Lateral clavicle hook, Fibular aplasia, Carpal bone hypoplasia, Death in infancy, Carpal synostos... OMIM:274000
Poland Syndrome
Scoliosis, Absent hand, Pectus carinatum, Abnormal sternum morphology, Kyphosis, Sprengel anomaly... ORPHA:2911
Classical-Like Ehlers-Danlos Syndrome Type 1
Spina bifida occulta ORPHA:230839
Cooper-Jabs Syndrome
Scoliosis, Camptodactyly of finger, Joint hyperflexibility, Reduced bone mineral density, Abnorma... ORPHA:1488
Osteogenesis Imperfecta, Type Xiii
Scoliosis, Joint hypermobility, Wormian bones, Osteoporosis, Dislocated radial head, Platyspondyl... OMIM:614856
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3
Scoliosis, Dislocated radial head, Multiple joint dislocation, Platyspondyly, Joint laxity, Carpa... OMIM:618395
Osteogenesis Imperfecta, Type Xv
Scoliosis, Joint hypermobility, Platyspondyly, Recurrent fractures, Thin ribs, Bowing of limbs du... OMIM:615220
Dyssegmental Dysplasia, Rolland-Desbuquois Type
Narrow chest, Micrognathia, Camptodactyly, Short ribs, Joint contracture of the hand, Advanced os... OMIM:224400
Lethal Congenital Contracture Syndrome 1
Arthrogryposis multiplex congenita, Widening of cervical spinal canal, Abnormal thorax morphology... OMIM:253310
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2
Abnormality of the ribs, Short neck, Vertebral segmentation defect ORPHA:2578
Alkaptonuria
Intervertebral disc degeneration, Low back pain, Kyphosis, Limited hip movement, Limitation of kn... OMIM:203500
Prieto X-Linked Mental Retardation Syndrome
Osteoporosis, Patellar subluxation, Patellar dislocation, 11 pairs of ribs OMIM:309610
Congenital Disorder Of Glycosylation, Type Ig
Hypoplasia of the radius, Short femur, Rhizomelia, Short ribs, Short humerus, Short tibia, Butter... OMIM:607143
Cdags Syndrome
Lambdoidal craniosynostosis, Kyphosis, Short ribs, Delayed cranial suture closure, Short clavicle... OMIM:603116
Spondylometaphyseal Dysplasia, Axial
Anterior rib cupping, Platyspondyly, Thoracic hypoplasia OMIM:602271
Lethal Congenital Contracture Syndrome Type 1
Abnormal form of the vertebral bodies, Micrognathia, Abnormality of the elbow, Recurrent fracture... ORPHA:1486
Autosomal Recessive Multiple Pterygium Syndrome
Scoliosis, Camptodactyly of finger, Multiple pterygia, Arthrogryposis multiplex congenita, Axilla... ORPHA:2990
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type
Scoliosis, Platyspondyly, Genu varum OMIM:618728
Arnold-Chiari Malformation Type I
Scoliosis, Anteriorly placed odontoid process, Cervical C2/C3 vertebral fusion, Stiff neck, Fused... ORPHA:268882
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type
Scoliosis, Atlantoaxial instability, Anterior rib cupping, Epiphyseal stippling, Hip subluxation,... OMIM:271665
Mayer-Rokitansky-Küster-Hauser Syndrome
Vertebral fusion, Vertebral segmentation defect, Abnormal sacrum morphology, Abnormal form of the... ORPHA:3109
Epiphyseal Dysplasia, Multiple, With Severe Proximal Femoral Dysplasia
Platyspondyly, Irregularity of vertebral bodies, Genu valgum OMIM:609324
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
Short 5th metacarpal, Spondylolisthesis, Spina bifida occulta, Short toe, 11 pairs of ribs OMIM:617877
Thoracopelvic Dysostosis
Short ribs OMIM:187770
Anus, Imperforate
Anal atresia OMIM:207500
Fibrodysplasia Ossificans Progressiva
Short hallux, Abnormal vertebral morphology, Synostosis of joints, Ectopic ossification in muscle... ORPHA:337
Spondyloepimetaphyseal Dysplasia With Joint Laxity
Scoliosis, Limited elbow extension, Dislocated radial head, Platyspondyly, Joint laxity, Abnormal... ORPHA:93359
Osteogenesis Imperfecta, Type Xvi
Joint hypermobility, Rhizomelia, Beaded ribs, Mesomelia, Osteopenia, Vertebral compression fracture OMIM:616229
Caudal Regression Sequence
Scoliosis, Joint stiffness, Abnormal vertebral segmentation and fusion, Hypoplastic vertebral bod... ORPHA:3027
Robinow Syndrome, Autosomal Recessive 1
Scoliosis, Hypoplastic sacrum, Wide anterior fontanel, Micrognathia, Pectus excavatum, Rib fusion... OMIM:268310
Proximal 16P11.2 Microdeletion Syndrome
Scoliosis, Craniosynostosis, Abnormal vertebral morphology, Rib fusion, Micrognathia ORPHA:261197
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Abnormal clavicle morphology, Platyspondyly, Narrow chest, Micrognathia, Rhizomelia, Decreased sk... ORPHA:93267
Diaphanospondylodysostosis
Lumbosacral meningocele, Micrognathia, Thoracic hypoplasia, Bell-shaped thorax, Absent in utero r... OMIM:608022
Spondyloepiphyseal Dysplasia Tarda, X-Linked
Scoliosis, Platyspondyly, Shield chest, Hip osteoarthritis, Barrel-shaped chest, Kyphosis, Lumbar... OMIM:313400
Short Rib-Polydactyly Syndrome
Abnormal bone ossification, Abnormal hand bone ossification, Narrow chest, Disproportionate short... ORPHA:1505
Czeizel-Losonci Syndrome
Spina bifida, Micrognathia, Thoracolumbar scoliosis, Spina bifida occulta, Myelomeningocele, Hydr... ORPHA:2437
Czech Dysplasia
Scoliosis, Platyspondyly, Thoracic kyphosis, Flexion contracture, Irregular vertebral endplates, ... OMIM:609162
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome
Abnormal form of the vertebral bodies, Hemivertebrae, Abnormality of the ribs, Short neck, Abnorm... ORPHA:2234
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Genu valgum, Lateral clavicle hook, Thoracic hypoplasia, Bell-shaped thorax, Short ribs, Thoracic... OMIM:615630
Spondylometaphyseal Dysplasia, Schmidt Type
Platyspondyly, Genu valgum, Joint dislocation, Abnormality of the wrist, Kyphoscoliosis ORPHA:93316
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive
Hip osteoarthritis, Platyspondyly, Osteoarthritis OMIM:271600
Femoral-Facial Syndrome
Scoliosis, Short fifth metatarsal, Short fourth metatarsal, Dysplastic sacrum, Short humerus, Hem... OMIM:134780
Vertebral Hypersegmentation And Orofacial Anomalies
Joint hypermobility, Scapular winging, Supernumerary ribs, Pectus excavatum, Six lumbar vertebrae... OMIM:619122
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Distal ulnar epiphyseal stippling, Scoliosis, Platyspondyly, Mesomelic arm shortening, Beaking of... OMIM:609616
Becker Nevus Syndrome
Scoliosis, Cervical ribs, Pectus excavatum, Hemivertebrae OMIM:604919
Leg, Absence Deformity Of, With Congenital Cataract
Anal atresia, Duplication involving bones of the feet OMIM:246000
Neurogenic Thoracic Outlet Syndrome
Abnormality of the ribs ORPHA:100073
Anauxetic Dysplasia 1
Cervical subluxation, Platyspondyly, Short neck, Delayed ossification of carpal bones OMIM:607095
Gm1-Gangliosidosis, Type Iii
Scoliosis, Platyspondyly, Kyphosis, Anterior beaking of lumbar vertebrae, Hypoplastic acetabulae OMIM:230650
Smith-Mccort Dysplasia 1
Scoliosis, Genu valgum, Atlantoaxial instability, Multicentric femoral head ossification, Platysp... OMIM:607326
Thakker-Donnai Syndrome
Cervical C2/C3 vertebral fusion, Short neck, Hemivertebrae ORPHA:1780
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Superior rib anomalies, Abnormality of the cervical spine OMIM:307500
Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes
Platyspondyly, Lumbar scoliosis, Irregular vertebral endplates, Kyphoscoliosis OMIM:612847
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia
Spina bifida occulta OMIM:618060
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type
Limited elbow extension, Platyspondyly, Thoracic hypoplasia, Ovoid vertebral bodies, Lumbar hyper... OMIM:608728
Spondylometaphyseal Dysplasia, Kozlowski Type
Scoliosis, Genu valgum, Platyspondyly, Enlarged joints, Short thorax, Narrow chest, Pectus carina... ORPHA:93314
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Cervical hemivertebrae, Short 5th finger, Generalized joint laxity, Micrognathia, Hypermobility o... ORPHA:508498
Microcephalic Osteodysplastic Dysplasia, Saul-Wilson Type
Platyspondyly, Irregularity of vertebral bodies, Hypoplasia of the odontoid process ORPHA:85172
Dyssegmental Dysplasia, Silverman-Handmaker Type
Thoracic hypoplasia, Neonatal death, Micrognathia, Anisospondyly OMIM:224410
Duane-Radial Ray Syndrome
Scoliosis, Hypoplasia of the radius, Aplasia of metacarpal bones, Hypoplasia of the ulna, Short h... OMIM:607323
Spondylocarpotarsal Synostosis Syndrome
Scoliosis, Limited elbow extension, Hyperlordosis, Scapular winging, Tarsal synostosis, Pectus ca... OMIM:272460
Atelosteogenesis, Type Ii
Scoliosis, Platyspondyly, Coronal cleft vertebrae, Thoracic hypoplasia, Lumbar hyperlordosis, Cer... OMIM:256050
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Osteoporosis, Platyspondyly, Kyphosis ORPHA:2786
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
Scoliosis, Hyperlordosis, Ovoid vertebral bodies, Kyphosis, Hypoplasia of the odontoid process, M... ORPHA:93315
Diastrophic Dwarfism
Scoliosis, Camptodactyly of finger, Abnormal clavicle morphology, Hypoplastic cervical vertebrae,... ORPHA:628
Axial Mesodermal Dysplasia Spectrum
Scoliosis, Abnormality of the knee, Abnormal form of the vertebral bodies, Micrognathia, Missing ... ORPHA:1834
Sillence Syndrome
Scoliosis, Platyspondyly, Intervertebral disc degeneration, Abnormal vertebral morphology, Short ... ORPHA:3168
Renal Dysplasia-Limb Defects Syndrome
Hypoplasia of the radius, Fibular aplasia, Micrognathia, Short sternum, Aplasia of the ulna, Shor... OMIM:266910
Caudal Duplication
Spina bifida, Spinal cord lesion, Vertebral segmentation defect, Myelomeningocele, Bifid sacrum, ... ORPHA:1756
Brachytelephalangic Chondrodysplasia Punctata
Atlantoaxial instability, Vertebral hypoplasia, Cervical vertebral dysplasia, Cervical spinal can... ORPHA:79345
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Short femoral neck, Craniosynostosis, Short ribs OMIM:266920
Hypochondroplasia
Short long bone, Flared metaphysis, Genu varum, Brachydactyly, Abnormality of pelvic girdle bone ... OMIM:146000
Aicardi Syndrome
Scoliosis, Bifid ribs, Rib fusion, Small hand, Block vertebrae, Supernumerary ribs, Missing ribs,... ORPHA:50
Richieri-Costa/Guion-Almeida Syndrome
Spina bifida occulta OMIM:268850
Spinocerebellar Ataxia-Dysmorphism Syndrome
Spina bifida occulta ORPHA:1185
Progressive Pseudorheumatoid Dysplasia
Osteoporosis, Camptodactyly of finger, Platyspondyly, Enlarged interphalangeal joints, Joint swel... OMIM:208230
Familial Osteodysplasia, Anderson Type
Scoliosis, Elbow dislocation, Abnormal form of the vertebral bodies, Kyphosis, Recurrent fracture... ORPHA:2769
Osteogenesis Imperfecta, Type Xxi
Scoliosis, Joint hypermobility, Osteoporosis, Wormian bones, Platyspondyly, Pectus excavatum, Rec... OMIM:619131
Spondyloepimetaphyseal Dysplasia, Strudwick Type
Scoliosis, Genu valgum, Hyperlordosis, Delayed pubic bone ossification, Platyspondyly, Anterior r... OMIM:184250
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome
Platyspondyly, Abnormality of the intervertebral disk, Joint stiffness, Avascular necrosis, Osteo... ORPHA:1345
Fanconi Anemia, Complementation Group R
Anal atresia OMIM:617244
Cog1-Cdg
Irregularity of vertebral bodies, Posterior rib gap, Micrognathia, Rhizomelia, Rib fusion, Flat a... ORPHA:263508
Ritscher-Schinzel Syndrome 1
Micrognathia, Missing ribs, Hemivertebrae OMIM:220210
Spondylometaphyseal Dysplasia, Sedaghatian Type
Platyspondyly, Short toe, Narrow chest, Rhizomelia, Short finger, Horizontal inferior border of s... OMIM:250220
Noonan Syndrome 12
11 pairs of ribs, Pectus excavatum, Spinal canal stenosis OMIM:618624
Metaphyseal Dysplasia Without Hypotrichosis
Metaphyseal irregularity, Metaphyseal cupping of metacarpals, Short long bone, Metaphyseal dyspla... OMIM:250460
Townes-Brocks Syndrome 2
Scoliosis, Spina bifida occulta OMIM:617466
Multiple Epiphyseal Dysplasia, Beighton Type
Genu valgum, Lumbar platyspondyly, Abnormal hip joint morphology, Biconcave vertebral bodies, Low... ORPHA:166011
Otopalatodigital Syndrome Type 2
Scoliosis, Camptodactyly of finger, Short hallux, Fibular aplasia, Tarsal synostosis, Narrow ches... ORPHA:90652
Juberg-Hayward Syndrome
Scoliosis, Hypoplasia of the radius, Radioulnar synostosis, Abnormal vertebral morphology, Abnorm... ORPHA:2319
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Lateral clavicle hook, Wide anterior fontanel, Narrow chest, Micrognathia, Decreased calvarial os... OMIM:617925
Bruck Syndrome 2
Platyspondyly, Wormian bones, Pectus carinatum, Flexion contracture, Pterygium, Increased suscept... OMIM:609220
Ghosal Hematodiaphyseal Dysplasia
Abnormality of tibia morphology, Bowing of the long bones, Abnormality of femur morphology, Abnor... ORPHA:1802
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly
Multiple small vertebral fractures, Platyspondyly, Osteoporosis of vertebrae OMIM:156510
Craniofacial Dysmorphism, Skeletal Anomalies, And Mental Retardation Syndrome
Scoliosis, Joint hypermobility, Craniosynostosis, Narrow chest, Beaking of vertebral bodies, Micr... OMIM:213980
Osteogenesis Imperfecta, Type Xviii
Joint hypermobility, Wormian bones, Joint laxity, Biconcave vertebral bodies, Recurrent fractures... OMIM:617952
Osteogenesis Imperfecta, Type Iii
Scoliosis, Wormian bones, Protrusio acetabuli, Wide anterior fontanel, Biconcave vertebral bodies... OMIM:259420
Gurrieri Syndrome
Decreased anterioposterior diameter of lumbar vertebral bodies OMIM:601187
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Lateral clavicle hook, Hypoplasia of the radius, Narrow chest, Thoracic hypoplasia, Horizontal ri... OMIM:617895
Aicardi Syndrome
Scoliosis, Rib fusion, Hemivertebrae, Block vertebrae, Supernumerary ribs, Missing ribs, Butterfl... OMIM:304050
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Small cervical vertebral bodies, Cervical spinal canal stenosis, Thoracic hypoplasia, Bell-shaped... ORPHA:397715
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Scoliosis, Lateral clavicle hook, Absent tibia, Thoracic hypoplasia, Horizontal ribs, Hypoplasia ... OMIM:613091
Nail-Patella Syndrome
Scoliosis, Limited elbow extension, Pectus excavatum, Back pain, Lumbar hyperlordosis, Patellar h... OMIM:161200
Achondrogenesis Type 1B
Short thorax, Abnormal enchondral ossification, Narrow chest, Micrognathia, Short foot, Abnormali... ORPHA:93298
Axial Spondylometaphyseal Dysplasia
Platyspondyly, Thoracic hypoplasia, Rhizomelia, Delayed skeletal maturation, Cupped ribs ORPHA:168549
Alagille Syndrome
Abnormal form of the vertebral bodies, Micrognathia, Hypoplasia of the ulna, Short distal phalanx... ORPHA:52
Pseudodiastrophic Dysplasia
Scoliosis, Platyspondyly, Elbow dislocation, Phalangeal dislocation, Camptodactyly, Lumbar hyperl... OMIM:264180
Baller-Gerold Syndrome
Scoliosis, Hypoplasia of the radius, Lambdoidal craniosynostosis, Abnormal vertebral morphology, ... OMIM:218600
Osteogenesis Imperfecta With Opalescent Teeth, Blue Sclerae And Wormian Bones, But Without Fractures
Wormian bones, Moderate generalized osteoporosis, Biconcave flattened vertebrae, Abnormal joint m... OMIM:166230
Nestor-Guillermo Progeria Syndrome
Osteoporosis, Osteolytic defects of the distal phalanges of the hand, Scoliosis, Osteolysis, Dela... OMIM:614008
Acrocraniofacial Dysostosis
Abnormal form of the vertebral bodies, Short 1st metacarpal, Short distal phalanx of finger, Spin... ORPHA:949
Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant
Platyspondyly, Premature osteoarthritis OMIM:184840
Frontometaphyseal Dysplasia 2
Scoliosis, Dislocated radial head, Short metatarsal, Congenital hip dislocation, Camptodactyly, P... OMIM:617137
Apert Syndrome
Cervical C5/C6 vertebrae fusion, Aplasia/Hypoplasia of the thumb, Vertebral segmentation defect, ... ORPHA:87
Koolen-De Vries Syndrome
Scoliosis, Joint hyperflexibility, Kyphosis, Pectus excavatum, Vertebral fusion, Hip dislocation,... ORPHA:96169
Weaver Syndrome
Scoliosis, Limited elbow extension, Accelerated skeletal maturation, Dysharmonic bone age, Short ... OMIM:277590
Gm1-Gangliosidosis, Type Ii
Platyspondyly OMIM:230600
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Platyspondyly, Lateral clavicle hook, Narrow chest, Pectus carinatum, Horizontal ribs, Mesomelia,... OMIM:263520
Congenital Disorder Of Glycosylation, Type Iig
Scoliosis, Micrognathia, Rhizomelia, Camptodactyly, Small hand, Short foot, Abnormality of the ri... OMIM:611209
Grant Syndrome
Wormian bones, Abnormality of the glenoid fossa, Narrow chest, Joint hyperflexibility, Sprengel a... ORPHA:2097
Pseudoachondroplasia
Scoliosis, Limited elbow extension, Genu valgum, Irregular carpal bones, Limited hip extension, J... OMIM:177170
Achondrogenesis Type 1A
Short thorax, Abnormal enchondral ossification, Narrow chest, Micrognathia, Recurrent fractures, ... ORPHA:93299
Short Stature-Deafness-Neutrophil Dysfunction-Dysmorphism Syndrome
Ectopic anus ORPHA:2866
Bruck Syndrome
Osteoporosis, Platyspondyly, Wormian bones, Arthrogryposis multiplex congenita, Scoliosis, Kyphos... ORPHA:2771
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Scoliosis, Abnormal form of the vertebral bodies, Sprengel anomaly, Hemivertebrae, Abnormality of... ORPHA:2180
Brachyolmia Type 3
Scoliosis, Platyspondyly, Barrel-shaped chest, Kyphosis, Short neck OMIM:113500
Melnick-Needles Syndrome
Scoliosis, Short thorax, Anisospondyly, Narrow chest, Craniofacial hyperostosis, Joint hyperflexi... ORPHA:2484
Campomelic Dysplasia
Hypoplastic cervical vertebrae, Poorly ossified cervical vertebrae, Wide anterior fontanel, Thora... OMIM:114290
Kniest-Like Dysplasia With Pursed Lips And Ectopia Lentis
Platyspondyly, Pectus carinatum, Flexion contracture, Absent ossification of capital femoral epip... OMIM:245160
Mosaic Trisomy 14
Camptodactyly of finger, Narrow chest, Micrognathia, Abnormality of the ribs, Short neck ORPHA:1703
Bnar Syndrome
Anteriorly placed anus, Abnormality of the 5th toe, Anal stenosis ORPHA:217266
Acrofacial Dysostosis, Catania Type
Microretrognathia, Small hand, Spina bifida occulta, Short palm ORPHA:1786
Larsen Syndrome
Scoliosis, Hypoplastic cervical vertebrae, Short metatarsal, Beaking of vertebral bodies, Spondyl... OMIM:150250
Mucopolysaccharidosis Type 4
Scoliosis, Hyperlordosis, Genu valgum, Platyspondyly, Short thorax, Pectus carinatum, Joint hyper... ORPHA:582
Osteopathia Striata-Cranial Sclerosis Syndrome
Scoliosis, Hyperlordosis, Micrognathia, Spina bifida occulta ORPHA:2780
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Narrow chest, Hypoplastic scapulae, Mesomelia, Short ribs, Short distal phalanx of finger, Flat a... OMIM:614091
Metaphyseal Chondrodysplasia, Jansen Type
Short ribs, Pathologic fracture, Hip contracture, Knee flexion contracture, Osteopenia, Micrognathia OMIM:156400
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome
Abnormality of the ribs ORPHA:2435
Geroderma Osteodysplastica
Scoliosis, Osteoporosis, Platyspondyly, Abnormal bone ossification, Abnormal form of the vertebra... ORPHA:2078
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
11 pairs of ribs, Abnormal vertebral morphology, Hemivertebrae ORPHA:77298
Short-Rib Thoracic Dysplasia 12
Short thorax, Short toe, Narrow chest, Hypoplastic scapulae, Short finger, Horizontal ribs, Short... OMIM:269860
Camptodactyly Syndrome, Guadalajara, Type I
Hypoplastic 5th lumbar vertebrae, Wormian bones, Cubitus valgus, Scapular winging, Short metatars... OMIM:211910
Dental Anomalies And Short Stature
Platyspondyly, Herniation of intervertebral nuclei, Intervertebral space narrowing, Narrow verteb... OMIM:601216
Thanatophoric Dysplasia
Platyspondyly, Short thorax, Narrow chest, Joint hyperflexibility, Kyphosis, Joint stiffness, Hyd... ORPHA:2655
Apert Syndrome
Humeroradial synostosis, Synostosis of carpal bones, Delayed cranial suture closure, Coronal cran... OMIM:101200
Arthrogryposis, Distal, Type 2A
Scoliosis, Short neck, Spina bifida occulta, Kyphoscoliosis OMIM:193700
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Scoliosis, Platyspondyly, Rhizomelia, Ovoid vertebral bodies, Short finger, Severe platyspondyly,... OMIM:608940
Sirenomelia
Absence of the sacrum, Spina bifida, Sirenomelia, Aplasia/Hypoplasia of the radius ORPHA:3169
Thoracic Dysplasia-Hydrocephalus Syndrome
Limb undergrowth, Narrow chest, Thoracic dysplasia, Short ribs OMIM:273730
Hall-Riggs Mental Retardation Syndrome
Scoliosis, Platyspondyly, Osteoporosis, Kyphosis, Irregular vertebral endplates, Delayed skeletal... OMIM:234250
Ellis-Van Creveld Syndrome
Genu valgum, Narrow chest, Pectus carinatum, Horizontal ribs, Short ribs, Capitate-hamate fusion,... OMIM:225500
Osteogenesis Imperfecta, Type Ii
Wormian bones, Platyspondyly, Beaded ribs, Recurrent fractures, Absent ossification of calvaria, ... OMIM:166210
Thanatophoric Dysplasia Type 2
Platyspondyly, Short thorax, Hydrocephalus, Narrow chest, Holoprosencephaly, Joint hyperflexibili... ORPHA:93274
Septopreoptic Holoprosencephaly
Abnormality of the ribs, Abnormal vertebral morphology ORPHA:280195
Spondyloepimetaphyseal Dysplasia, Shohat Type
Scoliosis, Hyperlordosis, Platyspondyly, Generalized bone demineralization, Joint laxity, Abnorma... ORPHA:93352
Fryns Microphthalmia Syndrome
Abnormality of the vertebral column, Neural tube defect OMIM:600776
Dyggve-Melchior-Clausen Disease
Atlantoaxial instability, Limited elbow extension, Genu valgum, Platyspondyly, Short thorax, Abno... ORPHA:239
3Mc Syndrome
Scoliosis, Hyperlordosis, Umbilical hernia, Caudal appendage, Spina bifida occulta, Prominent coccyx ORPHA:293843
Acrorenal-Mandibular Syndrome
Hypoplasia of the radius, Rudimentary fibula, Narrow chest, Micrognathia, Hypoplastic scapulae, H... OMIM:200980
Robinow Syndrome
Scoliosis, Mesomelic arm shortening, Radioulnar dislocation, Rib fusion, Fused thoracic vertebrae... ORPHA:97360
Steinfeld Syndrome
Hypoplasia of the radius, Abnormality of the vertebral column, Abnormal vertebral morphology, Hyp... OMIM:184705
Osteogenesis Imperfecta, Type Viii
Scoliosis, Wormian bones, Platyspondyly, Joint laxity, Wide anterior fontanel, Barrel-shaped ches... OMIM:610915
Spondyloepiphyseal Dysplasia Congenita
Scoliosis, Atlantoaxial instability, Delayed pubic bone ossification, Platyspondyly, Barrel-shape... OMIM:183900
Spondyloepiphyseal Dysplasia, Myopia, And Sensorineural Deafness
Lumbar hyperlordosis, Platyspondyly, Short neck OMIM:184000
Dyggve-Melchior-Clausen Disease
Scoliosis, Shield chest, Carpal bone hypoplasia, Thoracic kyphosis, Camptodactyly, Flat acetabula... OMIM:223800
Tetraamelia-Multiple Malformations Syndrome
Abnormally ossified vertebrae, Abnormality of the ribs, Tetraamelia, Micrognathia, Missing ribs ORPHA:3301
Pallister-Hall Syndrome
Short 4th metacarpal, Rib fusion, Radial head subluxation, Hemivertebrae, Mesomelia, Neonatal dea... OMIM:146510
Faciodigitogenital Syndrome, Autosomal Recessive
Hyperextensible hand joints, Camptodactyly, Pectus excavatum, Down-sloping shoulders, Vertebral f... OMIM:227330
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Scoliosis, Wormian bones, Absent glenoid fossa, Epiphyseal stippling, Narrow chest, Camptodactyly... ORPHA:96334
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Contracture of the distal interphalangeal joint of the fingers, Thin ribs, Long clavicles, Corona... ORPHA:83617
Cole-Carpenter Syndrome 2
Wormian bones, Platyspondyly, Lambdoidal craniosynostosis, Kyphosis, Pectus excavatum, Thin ribs,... OMIM:616294
3C Syndrome
Scoliosis, Micrognathia, Kyphosis, Death in infancy, Hemivertebrae, Short neck, Missing ribs ORPHA:7
Campomelic Dysplasia
Scoliosis, Poorly ossified cervical vertebrae, Narrow chest, Micrognathia, Kyphosis, Recurrent fr... ORPHA:140
Laryngotracheoesophageal Cleft Type 4
Abnormality of the ribs, Abnormal form of the vertebral bodies ORPHA:93941
Holt-Oram Syndrome
Scoliosis, Abnormal clavicle morphology, Radioulnar synostosis, Kyphosis, Pectus excavatum, Spren... ORPHA:392
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2
Platyspondyly, Advanced ossification of carpal bones, Joint laxity, Pectus excavatum, Carpal syno... OMIM:615349
Shprintzen-Goldberg Syndrome
Scoliosis, Camptodactyly of finger, Genu valgum, Craniosynostosis, Narrow chest, Elbow dislocatio... ORPHA:2462
Mucopolysaccharidosis, Type Iva
Scoliosis, Osteoporosis, Genu valgum, Hyperlordosis, Platyspondyly, Joint laxity, Prominent stern... OMIM:253000
Orofaciodigital Syndrome Xi
Hypoplasia of the odontoid process, Kyphoscoliosis OMIM:612913
Wolf-Hirschhorn Syndrome
Osteoporosis, Scoliosis, Short hallux, Abnormality of the vertebral column, Abnormal vertebral mo... ORPHA:280
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Narrow chest, Short ribs, Aplastic clavicle, Short neck, Micromelia OMIM:616546
Carpenter Syndrome 1
Scoliosis, Micrognathia, Umbilical hernia, Sacral dimple, Spina bifida occulta, Aplasia/Hypoplasi... OMIM:201000
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Wormian bones, Broad ribs, Wide anterior fontanel, Increased bone mineral density, Thin bony cort... ORPHA:85184
Spondyloepimetaphyseal Dysplasia, Missouri Type
Limited elbow extension, Platyspondyly, Irregular sclerotic endplates, Genu varum, Flared, irregu... OMIM:602111
Pulmonary Edema Of Mountaineers, Susceptibility To
Edema, Pulmonary edema OMIM:178400
Van Esch-O'Driscoll Syndrome
Scoliosis, Spina bifida occulta OMIM:301030
Mucopolysaccharidosis, Type Vii
Scoliosis, Genu valgum, Thoracolumbar kyphosis, Platyspondyly, Pectus carinatum, Flexion contract... OMIM:253220
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Scoliosis, Joint hypermobility, Accelerated skeletal maturation, Craniosynostosis, Multiple joint... OMIM:245600
Squamous Cell Carcinoma Of The Anal Canal
Intestinal bleeding, Anal stenosis, Neoplasm of the rectum, Neoplasm of the liver, Rectal prolaps... ORPHA:424019
Cantu Syndrome
Osteoporosis, Platyspondyly, Narrow chest, Ovoid vertebral bodies, Umbilical hernia, Cuboid-shape... OMIM:239850
Autosomal Recessive Stickler Syndrome
Platyspondyly, Genu valgum, Irregular vertebral endplates, Joint hyperflexibility ORPHA:250984
Chondroectodermal Dysplasia With Night Blindness
Osteoporosis, Abnormality of the knee, Platyspondyly, Fractures of the long bones, Abnormal patel... ORPHA:319195
Acrofacial Dysostosis 1, Nager Type
Scoliosis, Limited elbow extension, Hypoplasia of the radius, Radioulnar synostosis, Foot oligoda... OMIM:154400
Odontochondrodysplasia 1
Scoliosis, Joint hypermobility, Osteoporosis, Platyspondyly, Biconvex vertebral bodies, Coronal c... OMIM:184260
Cole-Carpenter Syndrome
Scoliosis, Wormian bones, Abnormal form of the vertebral bodies, Joint hyperflexibility, Kyphosis... ORPHA:2050
Lymphangiectasia, Intestinal
Pedal edema, Edema, Stillbirth OMIM:152800
Autosomal Recessive Robinow Syndrome
Scoliosis, Camptodactyly of finger, Elbow dislocation, Synostosis of carpal bones, Micrognathia, ... ORPHA:1507
Schwartz-Jampel Syndrome, Type 1
Osteoporosis, Shoulder flexion contracture, Platyspondyly, Congenital hip dislocation, Coronal cl... OMIM:255800
Dyssegmental Dysplasia With Glaucoma
Platyspondyly, Elbow flexion contracture, Hip contracture, Delayed epiphyseal ossification OMIM:601561
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Hip dysplasia, Abnormality of the metacarpal bones, Abnormality of the metaphysis, Abnormality of... ORPHA:2370
Postaxial Acrofacial Dysostosis
Hypoplasia of the radius, Supernumerary vertebrae, Congenital hip dislocation, Radioulnar synosto... OMIM:263750
Mucopolysaccharidosis, Type Iiia
Thickened ribs, Ovoid thoracolumbar vertebrae, Joint stiffness, Dense calvaria OMIM:252900
Ulbright-Hodes Syndrome
Humeroradial synostosis, Hypoplasia of the radius, Fibular aplasia, Micrognathia, Short sternum, ... ORPHA:3404
Heyn-Sproul-Jackson Syndrome
11 pairs of ribs, Short metacarpal OMIM:618724
Phaver Syndrome
Camptodactyly of finger, Radioulnar synostosis, Abnormal form of the vertebral bodies, Pterygium,... ORPHA:2876
Mucopolysaccharidosis, Type Ivb
Scoliosis, Genu valgum, Osteoporosis, Hyperlordosis, Platyspondyly, Joint laxity, Prominent stern... OMIM:253010
Cleidocranial Dysplasia
Scoliosis, Hypoplastic scapulae, Short clavicles, Spina bifida occulta, Micrognathia, Abnormal sa... ORPHA:1452
Distal Monosomy 10Q
Lumbar hyperlordosis, Micrognathia, Short metatarsal, Spina bifida occulta ORPHA:96148
Ophthalmoplegia, External, And Myopia
Spina bifida OMIM:311000
Spondyloperipheral Dysplasia-Short Ulna Syndrome
Limited elbow extension, Delayed pubic bone ossification, Platyspondyly, Abnormal hip joint morph... ORPHA:1856
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Platyspondyly, Rhizomelia, Death in infancy, Thin ribs, Short foot, Micrognathia, Short palm ORPHA:163966
Spondyloepiphyseal Dysplasia, Nishimura Type
Platyspondyly, Abnormal bone ossification, Anisospondyly, Narrow chest, Thoracic kyphosis, Ovoid ... ORPHA:163649
Limb Body Wall Complex
Aplasia of the proximal phalanges of the hand, Spina bifida, Short umbilical cord, Abnormality of... ORPHA:2369
Dyggve-Melchior-Clausen Syndrome, X-Linked
Scoliosis, Hypoplastic sacrum, Genu valgum, Platyspondyly, Prominent sternum, Barrel-shaped chest... OMIM:304950
Osteogenesis Imperfecta, Type X
Scoliosis, Genu valgum, Platyspondyly, Joint laxity, Broad ribs, Generalized joint laxity, Narrow... OMIM:613848
Eye Defects-Arachnodactyly-Cardiopathy Syndrome
Radioulnar synostosis, Bowing of the long bones, Sandal gap, Abnormal hip bone morphology, Cleft ... ORPHA:2725
Lymphatic Malformation 2
Lymphedema OMIM:611944
Chilblain Lupus 2
Edema OMIM:614415
Fanconi Anemia, Complementation Group O
Hypoplasia of the radius, Anal atresia, Rectal atresia, Short thumb, Absent thumb OMIM:613390
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy
Anterior rib cupping, Wormian bones, Platyspondyly, Prominent sternum, Thoracic kyphosis, Short f... OMIM:300232
Seckel Syndrome 8
Spinal cord compression, Micrognathia, Kyphoscoliosis OMIM:615807
Spondyloepimetaphyseal Dysplasia With Multiple Dislocations
Scoliosis, Genu valgum, Multiple joint dislocation, Hip subluxation, Thoracolumbar kyphosis, Join... ORPHA:93360
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type
Platyspondyly, Abnormal vertebral morphology, Delayed ossification of carpal bones, Limited hip m... ORPHA:93346
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Unicoronal synostosis, Narrow chest, Microretrognathia, Rhizomelia, Horizontal ribs, Bell-shaped ... OMIM:616300
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction
11 pairs of ribs, Hyperextensibility of the finger joints OMIM:618356
Spondyloepimetaphyseal Dysplasia With Abnormal Dentition
Genu valgum, Joint contracture of the 5th finger, Irregular vertebral endplates, Platyspondyly OMIM:601668
Geroderma Osteodysplasticum
Osteoporosis, Wormian bones, Platyspondyly, Biconcave vertebral bodies, Beaking of vertebral bodi... OMIM:231070
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
Hip subluxation, Joint laxity, Ovoid vertebral bodies, Pathologic fracture, Short femoral neck, A... OMIM:271640
Sacral Defect With Anterior Meningocele
Hemisacrum, Back pain, Anterior sacral meningocele, Meningocele, Absence of the sacrum OMIM:600145
Stickler Syndrome Type 1
Platyspondyly, Joint hyperflexibility, Abnormality of vertebral epiphysis morphology, Osteoarthritis ORPHA:90653
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome
Osteoporosis, Platyspondyly ORPHA:71267
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly
Lateral clavicle hook, Narrow chest, Short ribs, Acetabular spurs, Thoracic dysplasia OMIM:615503
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies
Joint hypermobility, Hypoplastic distal segments of scapulae, Pectus excavatum, Abnormality of th... OMIM:602196
Patterson Pseudoleprechaunism Syndrome
Small cervical vertebral bodies, Cervical platyspondyly, Irregular sclerotic endplates, Ovoid tho... OMIM:169170
Cenani-Lenz Syndrome
Scoliosis, Hypoplasia of the radius, Radioulnar synostosis, Synostosis of joints, Elbow dislocati... ORPHA:3258
Meier-Gorlin Syndrome 3
Short thorax, Narrow chest, Microretrognathia, Short ribs, Aplasia/Hypoplasia of the patella, Gen... OMIM:613803
Kniest Dysplasia
Platyspondyly, Enlarged joints, Coronal cleft vertebrae, Umbilical hernia, Delayed epiphyseal oss... OMIM:156550
Richieri Costa-Da Silva Syndrome
Beaking of vertebral bodies, Decreased anterioposterior diameter of lumbar vertebral bodies, Vert... ORPHA:3101
Hirschsprung Disease With Hypoplastic Nails And Dysmorphic Facial Features
Anal atresia, Aganglionic megacolon OMIM:235760
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations
Spina bifida occulta OMIM:300707
Acalvaria
Holoprosencephaly, Spina bifida, Hydrocephalus ORPHA:945
3M Syndrome
Scoliosis, Hyperlordosis, Increased vertebral height, Short thorax, Scapular winging, Congenital ... ORPHA:2616
Koolen-De Vries Syndrome
Scoliosis, Joint hypermobility, Kyphosis, Pectus excavatum, Sacral dimple, Spondylolisthesis, Ver... OMIM:610443
Spondyloepiphyseal Dysplasia Congenita
Scoliosis, Genu valgum, Osteoporosis, Platyspondyly, Barrel-shaped chest, Kyphosis, Knee pain, Ba... ORPHA:94068
Schinzel-Giedion Midface Retraction Syndrome
Increased density of long bones, Wormian bones, Sacrococcygeal teratoma, Broad ribs, Metopic sutu... OMIM:269150
Cat-Eye Syndrome
Hip dysplasia, Anal atresia ORPHA:195
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Scoliosis, Umbilical hernia, Small hand, Spina bifida occulta, Short foot, Short palm OMIM:235510
Osteogenesis Imperfecta, Type Vii
Scoliosis, Wormian bones, Protrusio acetabuli, Wide anterior fontanel, Narrow chest, Rhizomelia, ... OMIM:610682
Duane Retraction Syndrome
Hypoplasia of the radius, Abnormal form of the vertebral bodies, Micrognathia, Absent radius, Apl... ORPHA:233
Metaphyseal Chondrodysplasia, Schmid Type
Anterior rib cupping, Platyspondyly, Abnormal vertebral morphology, Irregular vertebral endplates... ORPHA:174
Zttk Syndrome
Scoliosis, Joint hypermobility, Craniosynostosis, Kyphosis, Flexion contracture, Rib fusion, Hemi... OMIM:617140
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Scoliosis, Hyperlordosis, Platyspondyly, Decreased hip abduction, Rhizomelia, Limited elbow movem... ORPHA:85167
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Abnormality of the ribs, Abnormal sternum morphology, Broad ribs, Short ribs ORPHA:2519
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1
Hypoplastic sacrum, Spinal dysraphism, Absence of the sacrum, Butterfly vertebrae, Tethered cord OMIM:617660
Smith-Mccort Dysplasia 2
Platyspondyly, Genu valgum, Pectus carinatum, Barrel-shaped chest, Short neck, Hypoplasia of the ... OMIM:615222
Odontochondrodysplasia
Scoliosis, Joint hyperflexibility, Narrow chest, Platyspondyly ORPHA:166272
Thoraco-Abdominal Enteric Duplication
Camptodactyly of finger, Missing ribs ORPHA:1759
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Abnormality of the ribs, Abnormally ossified vertebrae, Lower limb undergrowth, Micrognathia ORPHA:3035
Slc39A13-Related Spondylodysplastic Ehlers-Danlos Syndrome
Platyspondyly, Flexion contracture, Osteopenia ORPHA:157965
Hypertrichotic Osteochondrodysplasia, Cantu Type
Accelerated skeletal maturation, Osteoporosis, Platyspondyly, Broad ribs, Narrow chest, Ovoid ver... ORPHA:1517
Metaphyseal Chondrodysplasia, Schmid Type
Irregular acetabular roof, Platyspondyly, Irregular vertebral endplates, Genu varum, Distal tibia... OMIM:156500
Camptodactyly Syndrome, Guadalajara Type 3
Small hand, Spina bifida occulta, Short foot, Short neck, Distal shortening of limbs ORPHA:488434
Anorectal Anomalies
Rectovaginal fistula, Anal atresia OMIM:107100
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Lateral clavicle hook, Narrow chest, Horizontal ribs, Hypoplasia of the ulna, Short ribs, Death i... OMIM:208500
Seckel Syndrome 1
Scoliosis, Dislocated radial head, Hypoplasia of proximal fibula, Micrognathia, 11 pairs of ribs,... OMIM:210600
Mucopolysaccharidosis, Type Iiib
Thickened ribs, Ovoid thoracolumbar vertebrae, Joint stiffness, Dense calvaria OMIM:252920
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2
Scoliosis, Joint hypermobility, Joint stiffness, 11 pairs of ribs, Bicoronal synostosis, Short palm OMIM:619184
Stickler Syndrome, Type I
Scoliosis, Platyspondyly, Beaking of vertebral bodies, Kyphosis, Pectus excavatum, Spondylolisthe... OMIM:108300
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia
Ectopic anus, Aplasia/Hypoplasia of the distal phalanges of the hand, Aplasia/Hypoplasia of the d... ORPHA:94066
Cat-Eye Syndrome (Type I)
Anal atresia DECIPHER:42
Radial Aplasia, X-Linked
Absent radius, Anal atresia OMIM:312190
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome