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:
Bra,  Tbxt,  T1

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, Myelomeningocele, Absence of the sacrum, Anencephaly, Hydrocephalus, Spina bifida ... OMIM:182940
Sacral Agenesis With Vertebral Anomalies
Abnormal vertebral morphology, Absence of the sacrum OMIM:615709

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

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Disease Similarity of
phenotypes
Matching phenotypes Source
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Spondylosis, Cervical
Spina bifida occulta, Spondylolysis, Cervical spondylosis, Spondylolisthesis OMIM:184300
Acrodysplasia Scoliosis
Spina bifida occulta, Vertebral segmentation defect, Scoliosis ORPHA:2956
Neural Tube Defects, Susceptibility To
Sacral dimple, Myelomeningocele, Absence of the sacrum, Anencephaly, Hydrocephalus, Spina bifida ... OMIM:182940
Spondylocostal Dysostosis 1, Autosomal Recessive
Back pain, Vertebral fusion, Block vertebrae, Death in infancy, Vertebral segmentation defect, Ky... OMIM:277300
Spondylocostal Dysostosis 3, Autosomal Recessive
Kyphosis, Vertebral segmentation defect, Hypoplasia of the odontoid process, Contracture of the p... OMIM:609813
Klippel-Feil Syndrome 3, Autosomal Dominant
Cervical C3/C4 vertebral fusion, Cervical C5/C6 vertebrae fusion, Thoracic scoliosis OMIM:613702
Spondylocostal Dysostosis 2, Autosomal Recessive
Vertebral clefting, Vertebral segmentation defect, Short neck, Rib fusion, Hemivertebrae OMIM:608681
Spondylocostal Dysostosis 5
Vertebral fusion, Low back pain, Supernumerary ribs, Missing ribs, Posterior rib fusion, Butterfl... OMIM:122600
Odontoid Hypoplasia
Dystopic os odontoideum, Hypoplasia of the odontoid process, Cervical instability, Atlantoaxial i... OMIM:613628
Klippel-Feil Syndrome 2, Autosomal Recessive
Fused cervical vertebrae, Short neck, Scoliosis, Sprengel anomaly, Cervical C2/C3 vertebral fusion OMIM:214300
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome
Thoracic hemivertebrae, Fused cervical vertebrae, Abnormal sacrum morphology, Scoliosis, Short mi... ORPHA:1436
Microcephaly With Cervical Spine Fusion Anomalies
Vertebral fusion, Spinal instability OMIM:251250
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods
Cervical vertebral bodies with decreased anteroposterior diameter, Fusion of midcervical facet jo... OMIM:606842
Asymmetric Short Stature Syndrome
Fused cervical vertebrae, Micrognathia, Hemihypotrophy of lower limb, Lumbar scoliosis OMIM:108450
Mental Retardation, Skeletal Dysplasia, And Abducens Palsy
Thoracic hemivertebrae, Fused cervical vertebrae, Scoliosis, Prominent metopic ridge, Short middl... OMIM:309620
Cervical Vertebral Dysplasia
Anterior atlanto-occipital dislocation, Cervical vertebral facet hypoplasia, Cervical vertebral d... OMIM:118005
Wildervanck Syndrome
Fused cervical vertebrae OMIM:314600
Isolated Klippel-Feil Syndrome
Abnormal sacrum morphology, Abnormal vertebral segmentation and fusion, Sprengel anomaly, Short n... ORPHA:2345
Spastic Paraplegia 25, Autosomal Recessive
Spinal cord compression, Back pain OMIM:608220
Kyphomelic Dysplasia
Short thorax, Anterior rib cupping, Micrognathia, Missing ribs, Flat acetabular roof, Limitation ... ORPHA:1801
Sprengel Deformity
Spina bifida occulta, Hemivertebrae, Cervical segmentation defect, Scoliosis OMIM:184400
Diaphanospondylodysostosis
Absent or minimally ossified vertebral bodies, Short thorax, Enlarged thorax, Missing ribs, Abnor... ORPHA:66637
Vertebral Fusion, Posterior Lumbosacral, With Blepharoptosis
Posterior fusion of lumbosacral vertebrae OMIM:192800
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B
Flexion contracture, Fused cervical vertebrae, Antecubital pterygium, Short neck, Scoliosis, Tars... OMIM:618469
Autosomal Dominant Spondylocostal Dysostosis
Hyperlordosis, Short thorax, Vertebral segmentation defect, Missing ribs, Posterior rib fusion, A... ORPHA:1797
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Hyperlordosis, Kyphosis, Fused cervical vertebrae, Micrognathia, Pectus excavatum, Short neck, Ab... ORPHA:2522
Thanatophoric Dysplasia, Type Ii
Short ribs, Wide-cupped costochondral junctions, Platyspondyly, Narrow chest, Neonatal death, Sma... OMIM:187601
Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome
Sacral dimple, Posterior fusion of lumbosacral vertebrae, Joint stiffness, Tarsal synostosis, Abn... ORPHA:2064
Familial Congenital Mirror Movements
Fused cervical vertebrae ORPHA:238722
Metatropic Dysplasia
Flexion contracture, Long coccyx, Delayed skeletal maturation, Enlarged joints, Arthrogryposis mu... OMIM:156530
Chondrocalcinosis Due To Apatite Crystal Deposition
Chondrocalcinosis, Arthropathy, Osteoarthritis of the small joints of the hand, Costal cartilage ... OMIM:118610
Poland Syndrome
Unilateral oligodactyly, Short ribs, Rib fusion, Sprengel anomaly, Hemivertebrae OMIM:173800
Spondylometaphyseal Dysplasia With Corneal Dystrophy
Increased intervertebral space, Short ribs, Coarse metaphyseal trabecularization, Lumbar platyspo... OMIM:618961
Acropectorovertebral Dysplasia
Spina bifida occulta at L5, Short thumb, Spina bifida occulta at S1, Abnormal vertebral morphology OMIM:102510
Thoracomelic Dysplasia
Hyperlordosis, Genu valgum, Bell-shaped thorax, Short ribs, Elbow dislocation, Short neck, Limb u... ORPHA:1803
Vertebral Hypoplasia With Lumbar Kyphosis
Lumbar kyphosis, Vertebral hypoplasia OMIM:192900
Sacral Agenesis With Vertebral Anomalies
Abnormal vertebral morphology, Absence of the sacrum OMIM:615709
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Sacral dimple, Vertebral fusion, Short thorax, Death in infancy, Vertebral segmentation defect OMIM:618845
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia
Genu varum, Genu valgum, Flexion contracture, Back pain, Short ribs, Delayed vertebral ossificati... OMIM:613330
Achondrogenesis, Type Ib
Absent or minimally ossified vertebral bodies, Short ribs, Stillbirth, Micromelia, Narrow chest OMIM:600972
Lipedema
Edema OMIM:614103
Achondrogenesis Type 2
Unossified sacrum, Abnormal bone ossification, Short ribs, Delayed vertebral ossification, Absent... ORPHA:93296
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Abnormality of the elbow, Radioulnar synostosis, Delayed skeletal maturation, Scoliosis, Abnormal... ORPHA:3268
Thoracolaryngopelvic Dysplasia
Horizontal ribs, Bell-shaped thorax, Irregular vertebral endplates, Irregular chondrocostal junct... OMIM:187760
Fetal Akinesia Deformation Sequence 4
11 pairs of ribs, Prenatal death, Kyphosis, Micrognathia, Camptodactyly, Short neck, Neonatal dea... OMIM:618393
Axial Spondylometaphyseal Dysplasia
Flared, irregular rib ends, Upper limb undergrowth, Thoracic hypoplasia, Short femoral neck, Shor... ORPHA:168549
Nevus Comedonicus Syndrome
Spina bifida, Spina bifida occulta, Scoliosis, Abnormal vertebral morphology ORPHA:64754
Schneckenbecken Dysplasia
Advanced ossification of carpal bones, Anterior rib cupping, Thoracic hypoplasia, Short ribs, Nar... OMIM:269250
Spondylocostal Dysostosis 4, Autosomal Recessive
Bell-shaped thorax, Vertebral fusion, Short thorax, Block vertebrae, Vertebral segmentation defec... OMIM:613686
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly
Horizontal ribs, Short ribs, Death in infancy, Lateral clavicle hook, Acetabular spurs, Narrow ch... OMIM:617405
Ophthalmoplegia, External, With Rib And Vertebral Anomalies
Missing ribs, Pectus excavatum, Scoliosis, Short ribs OMIM:618155
Wildervanck Syndrome
Fused cervical vertebrae, Short neck ORPHA:3456
Neuronal Intranuclear Inclusion Disease
Spina bifida occulta, Scoliosis, Abnormal form of the vertebral bodies ORPHA:2289
Ossification Of The Posterior Longitudinal Ligament Of Spine
Spinal cord compression, Abnormality of the vertebral column, Myelopathy OMIM:602475
Klippel-Feil Syndrome 1, Autosomal Dominant
Abnormal vertebral segmentation and fusion, Sprengel anomaly, Short neck, Scoliosis, Abnormal rib... OMIM:118100
Cervical Vertebrae, Agenesis Of
Cervical vertebral agenesis OMIM:214290
Iniencephaly
Hyperlordosis, Spinal dysraphism, Encephalocele, Myelomeningocele, Mandibular aplasia, Rhizomelia... ORPHA:63259
Kniest Dysplasia
Short neck, Abnormal cartilage collagen, Delayed patellar ossification, Enlarged joints, Delayed ... ORPHA:485
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism
Thoracolumbar scoliosis, Flexion contracture, Micrognathia, Acetabular dysplasia, Short neck, Cer... OMIM:616549
Spondyloepimetaphyseal Dysplasia, Shohat Type
Genu varum, Bell-shaped thorax, Vertebral hypoplasia, Short femoral neck, Short ribs, Lumbar hype... OMIM:602557
Fibrodysplasia Ossificans Progressiva
Ectopic ossification in ligament tissue, Small cervical vertebral bodies, Short 1st metacarpal, E... OMIM:135100
Becker Nevus Syndrome
Kyphosis, Supernumerary ribs, Pectus excavatum, Spina bifida occulta, Rib fusion, Scoliosis, Micr... ORPHA:64755
Multiple Synostoses Syndrome 2
Vertebral fusion, Humeroradial synostosis, Finger symphalangism, Carpal synostosis, Proximal symp... OMIM:610017
Acrocapitofemoral Dysplasia
Short tibia, Short proximal phalanx of finger, Pectus excavatum, Short femur, Ovoid vertebral bod... OMIM:607778
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Thoracic hypoplasia, Severe platyspondyly, Rhizomelia, Short ribs, Decreased cranial base ossific... OMIM:151210
Fibrochondrogenesis 2
Bell-shaped thorax, Thoracic hypoplasia, Short ribs, Micrognathia, Cupped ribs, Platyspondyly OMIM:614524
Chondrodysplasia, Blomstrand Type
Advanced ossification of carpal bones, Short ribs, Narrow chest, Micrognathia, Accelerated skelet... OMIM:215045
Endosteal Hyperostosis, Worth Type
Abnormal cortical bone morphology, Craniofacial hyperostosis, Generalized osteosclerosis, Clavicu... ORPHA:2790
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type
Genu varum, Intervertebral space narrowing, Irregular vertebral endplates, Genu valgum, Decreased... OMIM:609223
Osteopathia Striata-Pigmentary Dermopathy-White Forelock Syndrome
Coarse metaphyseal trabecularization, Abnormal pelvic girdle bone morphology, Osteopathia striata... ORPHA:2779
Acrofacial Dysostosis, Catania Type
Spina bifida occulta, Short palm OMIM:101805
Lamb-Shaffer Syndrome
Thoracic kyphosis, Fused cervical vertebrae, Micrognathia, Scoliosis ORPHA:530983
Atelosteogenesis, Type I
Thoracic hypoplasia, Vertebral hypoplasia, Micrognathia, Elbow dislocation, Short femur, Short ne... OMIM:108720
Craniofacial Conodysplasia
Spinal cord compression, Hydrocephalus ORPHA:85168
Angioedema, Hereditary, 6
Angioedema, Facial edema, Edema of the dorsum of hands OMIM:619363
Pelvic Dysplasia-Arthrogryposis Of Lower Limbs Syndrome
Spina bifida occulta, Sacrococcygeal pilonidal abnormality ORPHA:2840
Spina Bifida-Hypospadias Syndrome
Spina bifida, Spinal dysraphism ORPHA:3176
Brachyolmia, Maroteaux Type
Short thorax, Pectus excavatum, Scoliosis, Platyspondyly, Abnormal form of the vertebral bodies ORPHA:93302
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis
Osteomyelitis, Fused cervical vertebrae, Osteolysis, Periostitis, Osteopenia, Joint swelling, Fla... OMIM:612852
Three M Syndrome 1
Hyperlordosis, Joint dislocation, Increased vertebral height, Short 5th finger, Short thorax, Sho... OMIM:273750
Femoral-Facial Syndrome
Aplasia/Hypoplasia of the tibia, Vertebral segmentation defect, Micrognathia, Radioulnar synostos... ORPHA:1988
Brachydactyly, Type B1
Delayed cranial suture closure, Hypoplastic sacrum, Vertebral fusion, Thoracolumbar scoliosis, Wi... OMIM:113000
Hypophosphatasia, Infantile
Vertebral clefting, Increased susceptibility to fractures, Short ribs, Death in infancy, Short lo... OMIM:241500
Pyknoachondrogenesis
Stillbirth OMIM:265880
Heart Defects-Limb Shortening Syndrome
Mesomelic/rhizomelic limb shortening, Kyphosis, Death in infancy, Narrow chest, Accelerated skele... ORPHA:1354
Achondrogenesis, Type Ia
Hypoplastic sacrum, Bell-shaped thorax, Short thorax, Short ribs, Broad clavicles, Hypoplasia of ... OMIM:200600
Hypomyelination With Brainstem And Spinal Cord Involvement And Leg Spasticity
Spina bifida occulta, Tethered cord OMIM:615281
Isotretinoin Syndrome
Spina bifida occulta, Micrognathia, Sacral dimple ORPHA:2305
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome
Short toe, Short 5th metacarpal, Short distal phalanx of the thumb, Short 3rd metacarpal, Short d... ORPHA:370010
Fibrochondrogenesis 1
Thoracic hypoplasia, Camptodactyly, Short neck, Widely patent coronal suture, Short palm, Thin cl... OMIM:228520
Neural Tube Defects, Folate-Sensitive
Spinal dysraphism OMIM:601634
Stapes Ankylosis With Broad Thumbs And Toes
Fused cervical vertebrae, Short distal phalanx of finger, Proximal/middle symphalangism of 5th fi... OMIM:184460
Autosomal Dominant Brachyolmia
Kyphoscoliosis, Short thorax, Increased vertebral height, Platyspondyly ORPHA:93304
Infantile-Onset X-Linked Spinal Muscular Atrophy
Knee flexion contracture, Hip contracture, Short ribs, Elbow flexion contracture, Kyphoscoliosis,... ORPHA:1145
Autosomal Recessive Spondylocostal Dysostosis
Camptodactyly of finger, Short thorax, Kyphosis, Vertebral segmentation defect, Rib segmentation ... ORPHA:2311
Spondylometaphyseal Dysplasia, Corner Fracture Type
Short femoral neck, Hypoplasia of the odontoid process, Hyperconvex vertebral body endplates, Ovo... OMIM:184255
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Vertebral fusion, Supernumerary vertebrae, Block vertebrae, Short ribs, Missing ribs, Short neck,... OMIM:271520
Anencephaly 1
Spina bifida, Anencephaly OMIM:206500
Achondrogenesis, Type Ii
Horizontal ribs, Short ribs, Absent vertebral body mineralization, Microretrognathia, Barrel-shap... OMIM:200610
Thrombocytopenia-Absent Radius Syndrome
Genu varum, Patellar dislocation, Fused cervical vertebrae, Micrognathia, Hip dislocation, Fibula... ORPHA:3320
Craniodigital-Intellectual Disability Syndrome
Spina bifida occulta, Micrognathia ORPHA:1514
Frontometaphyseal Dysplasia 1
Camptodactyly of finger, Wrist flexion contracture, Elbow flexion contracture, Dislocated radial ... OMIM:305620
Chromosome 8Q22.1 Duplication Syndrome
Short metacarpal, Short thumb, Limitation of joint mobility, Enlarged interphalangeal joints, Int... OMIM:151200
Lethal Kniest-Like Dysplasia
Anterior rib cupping, Wide anterior fontanel, Mesomelic/rhizomelic limb shortening, Short ribs, A... ORPHA:2347
Thanatophoric Dysplasia, Type I
Thoracic hypoplasia, Severe platyspondyly, Short ribs, Wide-cupped costochondral junctions, Short... OMIM:187600
Multiple Pterygium Syndrome, X-Linked
Increased susceptibility to fractures, Vertebral fusion, Flexion contracture, Joint dislocation, ... OMIM:312150
Osteoarthritis With Mild Chondrodysplasia
Irregular vertebral endplates, Hip osteoarthritis, Heberden's node, Platyspondyly, Beaking of ver... OMIM:604864
Brachyolmia Type 1, Hobaek Type
Back pain, Intervertebral space narrowing, Kyphosis, Squared-off platyspondyly, Flat acetabular r... OMIM:271530
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Neural tube defect OMIM:615041
Verheij Syndrome
Vertebral fusion, Short 5th finger, Hip dislocation, Short neck, Scoliosis, Hemivertebrae OMIM:615583
Dysosteosclerosis
Short sternum, Increased susceptibility to fractures, Delayed closure of the anterior fontanelle,... OMIM:224300
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A
Knee flexion contracture, Vertebral fusion, Hip contracture, Multiple pterygia, Elbow flexion con... OMIM:178110
Ehlers-Danlos Syndrome, Classic-Like, 2
Shoulder dislocation, Generalized joint laxity, Facet joint arthrosis, Micrognathia, Hip dislocat... OMIM:618000
Osteodysplasty, Precocious, Of Danks, Mayne, And Kozlowski
Short toe, Short finger, Abnormal long bone morphology, Abnormal pelvic girdle bone morphology OMIM:259270
Metatropic Dysplasia
Camptodactyly of finger, Abnormal enchondral ossification, Kyphosis, Narrow chest, Coarse metaphy... ORPHA:2635
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Flexion contracture, Fractured radius, Thoracic hypoplasia, Short ribs, Multiple rib fractures, M... OMIM:616897
Otopalatodigital Syndrome Type 1
Hypoplastic frontal sinuses, Increased bone mineral density, Synostosis of carpal bones, Limitati... ORPHA:90650
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Bell-shaped thorax, Severe platyspondyly, Short ribs, Short neck, Delayed skeletal maturation, Dy... OMIM:613320
Multiple Pterygium Syndrome, Lethal Type
Increased susceptibility to fractures, Vertebral fusion, Flexion contracture, Joint dislocation, ... OMIM:253290
Bone Dysplasia, Lethal Holmgren Type
Bell-shaped thorax, Joint dislocation, Abnormality of the elbow, Rhizomelia, Short ribs, Short ne... ORPHA:1842
Fibrochondrogenesis
Camptodactyly of finger, Bell-shaped thorax, Wide anterior fontanel, Short ribs, Narrow chest, Hy... ORPHA:2021
Developmental And Speech Delay Due To Sox5 Deficiency
Vertebral fusion, Butterfly vertebrae, Thoracic kyphoscoliosis, Scoliosis, Pectus carinatum, Lumb... ORPHA:313892
Spondyloepiphyseal Dysplasia Tarda, Kohn Type
Abnormality of the knee, Restricted large joint movement, Abnormal vertebral morphology, Platyspo... ORPHA:163665
Keratoconus Posticus Circumscriptus
Abnormal vertebral segmentation and fusion, Short neck, Limited elbow extension and supination OMIM:244600
Greenberg Dysplasia
Absent or minimally ossified vertebral bodies, Thoracic hypoplasia, Micrognathia, Tetraphocomelia... OMIM:215140
Spondylometaphyseal Dysplasia, A4 Type
Flared, irregular rib ends, Limitation of joint mobility, Platyspondyly, Micromelia, Short palm ORPHA:168555
Ring Chromosome 21 Syndrome
Small hand, Thoracic hemivertebrae, Abnormal thorax morphology, Scoliosis, Fused thoracic vertebrae ORPHA:1445
Rhizomelic Chondrodysplasia Punctata
Spina bifida occulta, Limb undergrowth, Rhizomelia, Scoliosis ORPHA:177
Multiple Epiphyseal Dysplasia Type 5
Genu varum, Genu valgum, Back pain, Knee pain, Avascular necrosis of the capital femoral epiphysi... ORPHA:93311
Pelvis-Shoulder Dysplasia
Back pain, Spina bifida occulta, Short clavicles, Hypoplastic scapulae, Lumbar hyperlordosis OMIM:169550
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 2
11 pairs of ribs, Rhizomelia, Vertebral segmentation defect, Narrow chest, Hemivertebrae OMIM:617661
Kbg Syndrome
Vertebral fusion, Thoracic kyphosis, Cervical ribs, Short neck, Delayed skeletal maturation, Scol... ORPHA:2332
Osteogenesis Imperfecta, Type Ix
Bowing of limbs due to multiple fractures, Recurrent fractures, Kyphosis, Short lower limbs, Pect... OMIM:259440
Nuchal Bleb, Familial
Hydrops fetalis, Stillbirth OMIM:257350
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Thoracic hypoplasia, Short ribs, Micrognathia, Vertebral wedging, Missing ribs, Micromelia, Decre... OMIM:617866
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Fused cervical vertebrae, Butterfly vertebrae, Pectus excavatum, Spina bifida occulta, Sprengel a... OMIM:619227
Spinal Dysplasia, Anhalt Type
Thoracolumbar scoliosis, Narrow anterio-posterior vertebral body diameter, Spinal dysplasia, Thor... OMIM:601344
Multiple Pterygium Syndrome, Escobar Variant
Neck pterygia, Flexion contracture, Multiple joint contractures, Anterior clefting of vertebral b... OMIM:265000
Pulmonary Hypoplasia, Primary
Neonatal death OMIM:265430
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia
Shoulder dislocation, Genu varum, Aplasia/Hypoplasia of the thumb, Asymmetric radial dysplasia, A... OMIM:171480
Spondylocamptodactyly Syndrome
Camptodactyly of finger, Scoliosis, Platyspondyly ORPHA:3180
Spondyloepiphyseal Dysplasia, Kimberley Type
Genu varum, Genu valgum, Delayed skeletal maturation, Platyspondyly OMIM:608361
Achondroplasia
Genu varum, Spinal stenosis with reduced interpedicular distance, Generalized joint laxity, Sever... OMIM:100800
Mesomelic Dysplasia, Kantaputra Type
Camptodactyly of finger, Vertebral segmentation defect, Synostosis of carpal bones, Tarsal synost... ORPHA:1836
Osteomesopyknosis
Kyphosis, Increased bone mineral density, Abnormal cortical bone morphology, Scoliosis, Sclerotic... ORPHA:2777
Spondyloepiphyseal Dysplasia, Stanescu Type
Stiff neck, Vertebral wedging, Kyphoscoliosis, Platyspondyly, Beaking of vertebral bodies, Joint ... OMIM:616583
Thoracic Dysostosis, Isolated
Bell-shaped thorax, Pectus excavatum, Short ribs OMIM:187750
Bent Bone Dysplasia Syndrome 2
Short sternum, Short tibia, Hypoplastic acetabulae, Short 1st metacarpal, Short ribs, Short lower... OMIM:620076
Symbrachydactyly Of Hands And Feet
Aplasia/Hypoplasia of the thumb, Vertebral segmentation defect, Aplasia/Hypoplasia of the radius,... ORPHA:1570
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
Vertebral hypoplasia, Limb pain, Short neck, Ovoid vertebral bodies, Reduced bone mineral density... ORPHA:93315
Lymphatic Malformation 8
Polyhydramnios, Pericardial effusion, Nonimmune hydrops fetalis, Pleural effusion, Stillbirth, Ge... OMIM:618773
Cerebrofaciothoracic Dysplasia
Bifid ribs, Narrow chest, Vertebral segmentation defect, Short neck, Rib fusion, Scoliosis, Spren... ORPHA:1394
Second Metatarsal-Metacarpal Syndrome
Synostosis of carpals/tarsals, Platyspondyly OMIM:269630
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Hyperlordosis, Vertebral fusion, Kyphosis, Achilles tendon contracture, Elbow contracture, Scoliosis OMIM:606612
Dyssegmental Dysplasia, Silverman-Handmaker Type
Flexion contracture, Short ribs, Micrognathia, Anisospondyly, Pterygium, Limitation of joint mobi... ORPHA:1865
Spondyloepimetaphyseal Dysplasia, Irapa Type
Genu valgum, Upper limb undergrowth, Abnormal carpal morphology, Short metacarpal, Short palm, Sy... ORPHA:93351
Acrofacial Dysostosis, Palagonia Type
Short 4th metacarpal, Small hand, Micrognathia, Spina bifida occulta, Short neck, Scoliosis, Abno... ORPHA:1787
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis
Spina bifida occulta, Scoliosis OMIM:618736
Spondyloepiphyseal Dysplasia Tarda With Mental Retardation
Anterior beaking of lumbar vertebrae, Platyspondyly OMIM:271620
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Missing ribs, Joint hyperflexibility, Abnormal rib morphology, Hemivertebrae, Abnormal form of th... ORPHA:2759
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
11 pairs of ribs, Rhizomelia, Distal shortening of limbs, Decreased skull ossification, Hypoplasi... OMIM:300863
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome
Vertebral fusion, Patellar dislocation, Kyphosis, Hypoplastic vertebral bodies, Elbow dislocation... ORPHA:2916
Absence Deformity Of Leg-Cataract Syndrome
Abnormality of femur morphology, Abnormal epiphysis morphology, Anal atresia, Lower limb undergrowth ORPHA:2310
Mucolipidosis Iii Alpha/Beta
Short ribs, Craniosynostosis, Irregular carpal bones, Carpal bone hypoplasia, Scoliosis, Shallow ... OMIM:252600
Mosaic Trisomy 20
Vertebral fusion, Kyphosis, Fused cervical vertebrae, Vertebral segmentation defect, Micrognathia... ORPHA:1724
Sifrim-Hitz-Weiss Syndrome
Short femoral neck, Fused cervical vertebrae, Flat acetabular roof, Short clavicles, Wormian bones OMIM:617159
Thoracomelic Dysplasia
Bell-shaped thorax, Short ribs OMIM:273740
Intellectual Developmental Disorder, Autosomal Dominant 52
Lumbar scoliosis, Scapular winging, Pectus carinatum, Cervical C2/C3 vertebral fusion, Lumbar hyp... OMIM:617796
Bruck Syndrome 1
Knee flexion contracture, Increased susceptibility to fractures, Protrusio acetabuli, Hip contrac... OMIM:259450
Greenberg Dysplasia
Abnormal bone ossification, Rhizomelia, Narrow chest, Micrognathia, Abnormal pelvis bone ossifica... ORPHA:1426
Spondylometaphyseal Dysplasia, Type A4
Osteoporotic tarsals, Enlargement of the costochondral junction, Flat acetabular roof, Ovoid vert... OMIM:609052
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness
Genu varum, Genu valgum, Short foot, Short ribs, Irregular chondrocostal junctions, Joint laxity,... OMIM:250420
Hernia, Anterior Diaphragmatic
Neonatal death OMIM:306950
Fanconi Anemia, Complementation Group I
Absent thumb, Short 1st metacarpal, Hypoplasia of the radius, Fused cervical vertebrae, Short nec... OMIM:609053
Seckel Syndrome 4
11 pairs of ribs, Steep acetabular roof OMIM:613676
Basal Cell Nevus Syndrome 1
Bifid ribs, Vertebral fusion, Abnormal sternum morphology, Short 4th metacarpal, Short ribs, Vert... OMIM:109400
Blomstrand Lethal Chondrodysplasia
Short thorax, Aplastic clavicle, Rhizomelia, Short metacarpal, Short ribs, Broad clavicles, Incre... ORPHA:50945
Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant
Irregular vertebral endplates, Knee pain, Avascular necrosis of the capital femoral epiphysis, Ar... OMIM:184100
Shashi-Pena Syndrome
Cervical C2/C3 vertebral fusion, Kyphosis, Short metacarpal, Accelerated skeletal maturation, Sco... OMIM:617190
Epiphyseal Dysplasia, Multiple, 7
Genu varum, Advanced ossification of carpal bones, Vertebral wedging, Flat acetabular roof, Platy... OMIM:617719
Brachyolmia Type 1, Toledo Type
Back pain, Intervertebral space narrowing, Irregular vertebral endplates, Squared-off platyspondy... OMIM:271630
Diastrophic Dysplasia
Cervical kyphosis, Short finger, Spinal cord compression, Kyphoscoliosis, Hypoplastic cervical ve... OMIM:222600
Spondyloepiphyseal Dysplasia, Maroteaux Type
Genu valgum, Platyspondyly OMIM:184095
Braddock Syndrome
Micrognathia, Missing ribs, Pectus excavatum, Short neck, Scoliosis, Hemivertebrae ORPHA:52047
Congenital Disorder Of Glycosylation, Type Iig
Short foot, Rhizomelia, Small hand, Vertebral segmentation defect, Micrognathia, Camptodactyly, B... OMIM:611209
Spondyloepimetaphyseal Dysplasia, Di Rocco Type
Genu varum, Delayed ossification of carpal bones, Delayed skeletal maturation, Irregular acetabul... OMIM:617974
Gorlin Syndrome
Scoliosis, Vertebral fusion, Hemivertebrae, Vertebral wedging ORPHA:377
Atelosteogenesis Type Ii
Thoracic hypoplasia, Micrognathia, Elbow flexion contracture, Camptodactyly, Elbow dislocation, S... ORPHA:56304
Disorder Of Sex Development-Intellectual Disability Syndrome
Spina bifida occulta, Short neck, Kyphosis ORPHA:2983
Aarskog-Scott Syndrome
Camptodactyly of finger, Abnormality of the cervical spine, Short foot, Small hand, Pectus excava... ORPHA:915
White Forelock With Malformations
Spina bifida occulta ORPHA:2475
Anus, Imperforate
Anal atresia, Ectopic anus OMIM:301800
Dyssegmental Dysplasia, Rolland-Desbuquois Type
Advanced ossification of carpal bones, Joint contracture of the hand, Short ribs, Micrognathia, C... OMIM:224400
Dysspondyloenchondromatosis
Genu valgum, Joint dislocation, Generalized joint laxity, Vertebral segmentation defect, Anisospo... ORPHA:85198
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density
Short tibia, Absent ossification of thoracic vertebral bodies, Hypoplasia of the radius, Scleroti... OMIM:601376
Spondyloepimetaphyseal Dysplasia, Irapa Type
Hypoplastic sacrum, Genu valgum, Enlargement of the costochondral junction, Upper limb undergrowt... OMIM:271650
Frontometaphyseal Dysplasia
Camptodactyly of finger, Wrist flexion contracture, Micrognathia, Elbow flexion contracture, Disl... ORPHA:1826
Pontine Tegmental Cap Dysplasia
Hemivertebrae, Ankle clonus, Rib fusion, Scoliosis OMIM:614688
Meier-Gorlin Syndrome 1
Flexion contracture, Osteochondritis dissecans, Micrognathia, Camptodactyly, Elbow dislocation, A... OMIM:224690
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Hyperlordosis, Vertebral fusion, Kyphosis, Achilles tendon contracture, Scoliosis OMIM:607155
Cleidocranial Dysplasia 1
Hypoplastic frontal sinuses, Short middle phalanx of the 2nd finger, Increased bone mineral densi... OMIM:119600
Craniosynostosis 6
Spina bifida occulta, Scoliosis OMIM:616602
Schneckenbecken Dysplasia
Short ribs, Narrow chest, Accelerated skeletal maturation, Hypoplastic vertebral bodies, Short ne... ORPHA:3144
Pyknoachondrogenesis
Horizontal ribs, Unossified sacrum, Enlarged thorax, Short thorax, Short ribs, Poorly ossified ve... ORPHA:3003
Pelvis-Shoulder Dysplasia
Camptodactyly of finger, Bell-shaped thorax, Aplasia/Hypoplasia of the fibula, Mesomelic/rhizomel... ORPHA:2839
Spondylometaphyseal Dysplasia, X-Linked
Thoracolumbar scoliosis, Knee flexion contracture, Hip contracture, Kyphosis, Hyperextensibility ... OMIM:313420
Brachydactylous Dwarfism, Mseleni Type
Protrusio acetabuli, Hip osteoarthritis, Abnormality of the wrist, Limitation of joint mobility, ... ORPHA:2619
Congenital Disorder Of Glycosylation, Type Ig
Short tibia, Rhizomelia, Short ribs, Hypoplasia of the radius, Butterfly vertebrae, Short femur, ... OMIM:607143
Alkaptonuria
Vertebral fusion, Kyphosis, Arthropathy, Low back pain, Arthritis, Limited hip movement, Limited ... OMIM:203500
Brachyolmia Type 2
Platyspondyly OMIM:613678
Lymphatic Malformation 11
Pedal edema, Lymphedema OMIM:619401
Fountain Syndrome
Kyphosis, Spina bifida, Spina bifida occulta, Scoliosis, Short distal phalanx of finger, Abnormal... ORPHA:3219
Poland Syndrome
Abnormal sternum morphology, Aplasia/Hypoplasia of the thumb, Pectus carinatum, Small hand, Kypho... ORPHA:2911
Lowe-Kohn-Cohen Syndrome
Anorectal anomaly, Anal atresia ORPHA:2408
Holoprosencephaly, Semilobar, With Craniosynostosis
Short distal phalanx of finger, Semilobar holoprosencephaly, Hypoplastic vertebral bodies OMIM:601370
Classical-Like Ehlers-Danlos Syndrome Type 1
Spina bifida occulta ORPHA:230839
Cooper-Jabs Syndrome
Camptodactyly of finger, Missing ribs, Scoliosis, Joint hyperflexibility, Abnormal rib morphology... ORPHA:1488
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3
Irregular vertebral endplates, Patellar dislocation, Short femoral neck, Multiple joint dislocati... OMIM:618395
Autosomal Recessive Multiple Pterygium Syndrome
Camptodactyly of finger, Abnormal sternum morphology, Multiple pterygia, Vertebral segmentation d... ORPHA:2990
Coxopodopatellar Syndrome
Hip dysplasia, Abnormal epiphysis morphology, Aplasia/Hypoplasia of the patella, Abnormal pelvic ... ORPHA:1509
Stuve-Wiedemann Syndrome 2
Thoracic hypoplasia, Camptodactyly, Scoliosis, Stillbirth, Death in adolescence, Neonatal death OMIM:619751
Metaphyseal Dysplasia Without Hypotrichosis
Genu varum, Metaphyseal irregularity, Short metacarpal, Short long bone, Metaphyseal striations, ... OMIM:250460
Spondyloepiphyseal Dysplasia, Kimberley Type
Short thorax, Osteoarthritis, Platyspondyly ORPHA:93283
Osteogenesis Imperfecta, Type Xv
Bowing of limbs due to multiple fractures, Recurrent fractures, Joint hypermobility, Scoliosis, P... OMIM:615220
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type
Hip subluxation, Thoracic hypoplasia, Progressive calcification of costochondral cartilage, Micro... OMIM:271665
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Sacral dimple, Kyphosis, Micrognathia, Spina bifida occulta, Scoliosis OMIM:618291
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2
Abnormal rib morphology, Vertebral segmentation defect, Short neck ORPHA:2578
Lethal Congenital Contracture Syndrome Type 1
Abnormality of the elbow, Recurrent fractures, Micrognathia, Abnormal cortical bone morphology, L... ORPHA:1486
Pseudoachondroplasia
Irregular carpal bones, Irregular acetabular roof, Limited elbow extension, Beaking of vertebral ... ORPHA:750
Lethal Congenital Contracture Syndrome 1
Micrognathia, Abnormal thorax morphology, Widening of cervical spinal canal, Neonatal death, Arth... OMIM:253310
Fibrodysplasia Ossificans Progressiva
Ectopic ossification in ligament tissue, Spinal rigidity, Abnormal vertebral morphology, Synostos... ORPHA:337
Cdags Syndrome
Delayed cranial suture closure, Sagittal craniosynostosis, Kyphosis, Short ribs, Coronal craniosy... OMIM:603116
Diaphanospondylodysostosis
Absent in utero ossification of vertebral bodies, Unossified sacrum, Bell-shaped thorax, Thoracic... OMIM:608022
Pallister-Hall-Like Syndrome
Death in infancy, Short ribs, Micrognathia, Hip dislocation, Micromelia OMIM:241800
Osteogenesis Imperfecta, Type V
Biconcave vertebral bodies, Recurrent fractures, Hyperextensibility of the finger joints, Anterio... OMIM:610967
Prieto Syndrome
11 pairs of ribs, Osteoporosis, Patellar dislocation, Patellar subluxation OMIM:309610
Thoracopelvic Dysostosis
Short ribs OMIM:187770
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia
Spina bifida occulta OMIM:618060
Progressive Pseudorheumatoid Arthropathy Of Childhood
Wrist swelling, Camptodactyly, Polyarticular arthropathy, Generalized osteoporosis, Irregular ace... ORPHA:1159
Czeizel-Losonci Syndrome
Thoracolumbar scoliosis, Myelomeningocele, Spina bifida, Micrognathia, Hydrocephalus, Spina bifid... ORPHA:2437
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Flexion contracture, Vertebral hypoplasia, Short ribs, Micrognathia, Aplasia of the distal phalan... OMIM:308050
Microphthalmia, Syndromic 3
Vertebral fusion, Vertebral hypoplasia, Supernumerary ribs, Missing ribs, Butterfly vertebrae, Ri... OMIM:206900
Caudal Regression Syndrome
Missing ribs, Hypoplastic vertebral bodies, Abnormal vertebral segmentation and fusion, Scoliosis... ORPHA:3027
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Bell-shaped thorax, Genu valgum, Thoracic hypoplasia, Short ribs, Thoracic dysplasia, Lateral cla... OMIM:615630
Proximal 16P11.2 Microdeletion Syndrome
Micrognathia, Abnormal vertebral morphology, Rib fusion, Scoliosis, Craniosynostosis ORPHA:261197
Short Rib-Polydactyly Syndrome
Horizontal ribs, Short tibia, Absent or minimally ossified vertebral bodies, Disproportionate sho... ORPHA:1505
Robinow Syndrome, Autosomal Recessive 1
Delayed cranial suture closure, Micrognathia, Pectus excavatum, Dislocated radial head, Short nec... OMIM:268310
Pseudodiastrophic Dysplasia
Elbow dislocation, Phalangeal dislocation, Scoliosis, Platyspondyly ORPHA:85174
Mayer-Rokitansky-Küster-Hauser Syndrome
Vertebral segmentation defect, Vertebral fusion, Abnormal form of the vertebral bodies, Abnormal ... ORPHA:3109
Spondylometaphyseal Dysplasia, Axial
Thoracic hypoplasia, Rhizomelia, Anterior rib cupping, Short femoral neck, Scoliosis, Platyspondy... OMIM:602271
Morquio Syndrome C
Platyspondyly OMIM:252300
Spondyloepimetaphyseal Dysplasia, Handigodu Type
Hump-shaped mound of bone in central and posterior portions of vertebral endplate, Hip subluxatio... ORPHA:99642
Pyle Disease
Genu valgum, Abnormal thorax morphology, Platyspondyly, Scoliosis, Limited elbow extension, Cubit... OMIM:265900
Arnold-Chiari Malformation Type I
Stiff neck, Fused cervical vertebrae, Anteriorly placed odontoid process, Scoliosis, Cervical C2/... ORPHA:268882
Anus, Imperforate
Anal atresia OMIM:207500
Split Cord Malformation Type I
Scoliosis, Diastomatomyelia ORPHA:1671
Duane-Radial Ray Syndrome
Shoulder dislocation, Absent thumb, Aplasia of metacarpal bones, Hypoplasia of the radius, Fused ... OMIM:607323
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome
Short neck, Abnormal rib morphology, Abnormality of the humeroulnar joint, Hemivertebrae, Abnorma... ORPHA:2234
Kbg Syndrome
Vertebral arch anomaly, Vertebral fusion, Thoracic kyphosis, Cervical ribs, Short neck, Delayed s... OMIM:148050
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Rhizomelia, Narrow chest, Micrognathia, Short neck, Abnormal clavicle morphology, Decreased skull... ORPHA:93267
Phosphoribosylaminoimidazole Carboxylase Deficiency
Missing ribs, Neonatal death, Short neck, Lumbar hemivertebrae OMIM:619859
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
11 pairs of ribs, Short toe, Short 5th metacarpal, Spina bifida occulta, Spondylolisthesis OMIM:617877
Spondylocarpotarsal Synostosis Syndrome
Hyperlordosis, Vertebral fusion, C2-C3 subluxation, Capitate-hamate fusion, Block vertebrae, Shor... OMIM:272460
Neurogenic Thoracic Outlet Syndrome
Abnormal rib morphology ORPHA:100073
Vertebral Hypersegmentation And Orofacial Anomalies
Micrognathia, Supernumerary ribs, Pectus excavatum, Joint hypermobility, Six lumbar vertebrae, Sc... OMIM:619122
Noonan Syndrome 12
11 pairs of ribs, Spinal canal stenosis, Pectus excavatum OMIM:618624
Femoral-Facial Syndrome
Aplasia/hypoplasia of the femur, Micrognathia, Short third metatarsal, Missing ribs, Short fifth ... OMIM:134780
Microcephaly-Micromelia Syndrome
Short tibia, Absent thumb, Humeroradial synostosis, Micrognathia, Missing ribs, Absent radius, Sh... OMIM:251230
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Abnormality of the cervical spine, Superior rib anomalies OMIM:307500
Larsen Syndrome
Short metatarsal, Vertebral fusion, Accessory carpal bones, Spondylolysis, Short metacarpal, Cerv... OMIM:150250
Diastrophic Dysplasia
Camptodactyly of finger, Joint dislocation, Kyphosis, Increased bone mineral density, Micrognathi... ORPHA:628
Sillence Syndrome
Back pain, Flat acetabular roof, Camptodactyly, Abnormal vertebral morphology, Aplasia of the mid... ORPHA:3168
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Irregular vertebral endplates, Flat acetabular roof, Delayed ossification of carpal bones, Cupped... OMIM:609616
Becker Nevus Syndrome
Hemivertebrae, Pectus excavatum, Scoliosis, Cervical ribs OMIM:604919
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
Sacral dimple, Bifid ribs, Vertebral fusion, Hyperextensibility of the finger joints, Narrow ches... OMIM:213980
Aicardi Syndrome
Bifid ribs, Small hand, Block vertebrae, Supernumerary ribs, Missing ribs, Butterfly vertebrae, R... ORPHA:50
Spondyloepimetaphyseal Dysplasia With Joint Laxity
Increased susceptibility to fractures, Radioulnar dislocation, Abnormality of the elbow, Elbow fl... ORPHA:93359
Leg, Absence Deformity Of, With Congenital Cataract
Duplication involving bones of the feet, Anal atresia OMIM:246000
Caudal Duplication
Myelomeningocele, Spina bifida, Vertebral segmentation defect, Abnormal sacrum morphology, Spinal... ORPHA:1756
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Cervical hemivertebrae, Short 5th finger, Generalized joint laxity, Thoracic hemivertebrae, Fused... ORPHA:508498
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type
Genu varum, Scoliosis, Platyspondyly OMIM:618728
Thakker-Donnai Syndrome
Hemivertebrae, Short neck, Cervical C2/C3 vertebral fusion ORPHA:1780
Mucopolysaccharidosis, Type Iva
Anterior beaking of lumbar vertebrae, Hyperlordosis, Genu valgum, Large elbow, Prominent sternum,... OMIM:253000
Cog1-Cdg
Rhizomelia, Vertebral segmentation defect, Micrognathia, Flat acetabular roof, Butterfly vertebra... ORPHA:263508
Epiphyseal Dysplasia, Multiple, With Severe Proximal Femoral Dysplasia
Genu valgum, Irregularity of vertebral bodies, Platyspondyly OMIM:609324
Lateral Meningocele Syndrome
Biconcave vertebral bodies, Vertebral fusion, Kyphosis, Micrognathia, Joint hypermobility, Pectus... OMIM:130720
Axial Mesodermal Dysplasia Spectrum
Abnormality of the knee, Vertebral segmentation defect, Micrognathia, Missing ribs, Short neck, S... ORPHA:1834
Spinocerebellar Ataxia-Dysmorphism Syndrome
Spina bifida occulta ORPHA:1185
Spondyloepiphyseal Dysplasia Congenita
Limited elbow movement, Kyphosis, Delayed calcaneal ossification, Hypoplasia of the odontoid proc... OMIM:183900
Brachytelephalangic Chondrodysplasia Punctata
Vertebral hypoplasia, Cervical kyphosis, Butterfly vertebrae, Spinal canal stenosis, Cervical cor... ORPHA:79345
Richieri-Costa/Guion-Almeida Syndrome
Spina bifida occulta OMIM:268850
Thrombocytopenia-Absent Radius Syndrome
Absent thumb, Patellar dislocation, Micrognathia, Hip dislocation, Cervical ribs, Phocomelia, Lat... OMIM:274000
Spondyloepiphyseal Dysplasia Tarda
Hip osteoarthritis, Increased bone mineral density, Stiff knee, Limb pain, Premature osteoarthrit... ORPHA:93284
Spondyloepiphyseal Dysplasia Tarda, X-Linked
Hump-shaped mound of bone in central and posterior portions of vertebral endplate, Back pain, Kyp... OMIM:313400
Nail-Patella Syndrome
Back pain, Patellar hypoplasia, Patellar dislocation, Patellar aplasia, Pectus excavatum, Antecub... OMIM:161200
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Rhizomelic arm shortening, Bell-shaped thorax, Rhizomelic leg shortening, Thoracic hypoplasia, Sm... ORPHA:397715
Familial Osteodysplasia, Anderson Type
Increased susceptibility to fractures, Aplastic clavicle, Recurrent fractures, Kyphosis, Aplasia/... ORPHA:2769
Spondylometaphyseal Dysplasia, Sedaghatian Type
11 pairs of ribs, Short toe, Horizontal inferior border of scapula, Rhizomelia, Short metacarpal,... OMIM:250220
Van Den Ende-Gupta Syndrome
Sacral dimple, Knee flexion contracture, Joint contracture of the hand, Short ribs, Micrognathia,... OMIM:600920
Osteogenesis Imperfecta, Type Iii
Protrusio acetabuli, Biconcave vertebral bodies, Bowing of limbs due to multiple fractures, Recur... OMIM:259420
Osteogenesis Imperfecta, Type Xvi
Recurrent fractures, Rhizomelia, Narrow chest, Multiple rib fractures, Microretrognathia, Joint h... OMIM:616229
Fanconi Anemia, Complementation Group R
Anal atresia OMIM:617244
Ritscher-Schinzel Syndrome 1
Micrognathia, Hemivertebrae, Missing ribs OMIM:220210
Apert Syndrome
Delayed cranial suture closure, Sagittal craniosynostosis, Rhizomelic arm shortening, Pectus cari... OMIM:101200
Alagille Syndrome
Butterfly vertebral arch, Vertebral segmentation defect, Micrognathia, Hypoplasia of the ulna, Sp... ORPHA:52
Acrocraniofacial Dysostosis
Short 1st metacarpal, Micrognathia, Spina bifida occulta, Short distal phalanx of finger, Abnorma... ORPHA:949
Juberg-Hayward Syndrome
Abnormality of the elbow, Hypoplasia of the radius, Abnormality of the wrist, Abnormal vertebral ... ORPHA:2319
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Horizontal ribs, Short tibia, Wide anterior fontanel, Short ribs, Micrognathia, Long thorax, Shor... OMIM:617925
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Horizontal ribs, Thoracic hypoplasia, Short ribs, Hypoplasia of the radius, Lateral clavicle hook... OMIM:617895
Aicardi Syndrome
Bifid ribs, Block vertebrae, Supernumerary ribs, Missing ribs, Butterfly vertebrae, Rib fusion, S... OMIM:304050
Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes
Kyphoscoliosis, Irregular vertebral endplates, Lumbar scoliosis, Platyspondyly OMIM:612847
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Horizontal ribs, Thoracic hypoplasia, Short ribs, Absent tibia, Hypoplasia of the ulna, Lateral c... OMIM:613091
Osteogenesis Imperfecta, Type Xviii
Thin bony cortex, Biconcave vertebral bodies, Recurrent fractures, Micrognathia, Joint laxity, Jo... OMIM:617952
Otopalatodigital Syndrome Type 2
Camptodactyly of finger, Hypoplastic frontal sinuses, Short thumb, Increased bone mineral density... ORPHA:90652
Smith-Mccort Dysplasia 1
Genu varum, Genu valgum, Hypoplastic acetabulae, Delayed femoral head ossification, Prominent ste... OMIM:607326
Gurrieri Syndrome
Decreased anterioposterior diameter of lumbar vertebral bodies OMIM:601187
Bnar Syndrome
Anteriorly placed anus, Anal stenosis, Abnormal fifth toe morphology ORPHA:217266
Microcephalic Osteodysplastic Dysplasia, Saul-Wilson Type
Small hand, Hypoplasia of the odontoid process, Platyspondyly, Short palm, Irregularity of verteb... ORPHA:85172
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive
Hip osteoarthritis, Osteoarthritis, Platyspondyly OMIM:271600
Ghosal Hematodiaphyseal Dysplasia
Abnormal pelvic girdle bone morphology, Abnormality of tibia morphology, Abnormality of femur mor... ORPHA:1802
Koolen-De Vries Syndrome
Vertebral fusion, Kyphosis, Vertebral segmentation defect, Hip dislocation, Pectus excavatum, Sco... ORPHA:96169
Spondylometaphyseal Dysplasia, Kozlowski Type
Hypoplasia of the odontoid process, Elbow flexion contracture, Flat acetabular roof, Delayed ossi... OMIM:184252
Apert Syndrome
Vertebral segmentation defect, Cervical C5/C6 vertebrae fusion, Aplasia/Hypoplasia of the thumb, ... ORPHA:87
Congenital Contractures Of The Limbs And Face, Hypotonia, And Developmental Delay
11 pairs of ribs, Knee flexion contracture, Hip contracture, Micrognathia, Elbow flexion contract... OMIM:616266
Grant Syndrome
Joint dislocation, Narrow chest, Micrognathia, Abnormal cortical bone morphology, Abnormality of ... ORPHA:2097
Frontometaphyseal Dysplasia 2
Hip contracture, Short metacarpal, Fused cervical vertebrae, Camptodactyly, Elbow contracture, Pe... OMIM:617137
Short-Rib Thoracic Dysplasia 12
Horizontal ribs, Short toe, Short thorax, Neonatal death, Short foot, Short ribs, Thoracic dyspla... OMIM:269860
Acrofacial Dysostosis, Catania Type
Spina bifida occulta, Short palm, Small hand, Microretrognathia ORPHA:1786
Achondrogenesis Type 1B
Short thorax, Abnormal enchondral ossification, Narrow chest, Micrognathia, Short neck, Micromeli... ORPHA:93298
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Horizontal ribs, Disproportionate shortening of the tibia, Short ribs, Thoracic dysplasia, Latera... OMIM:263520
Melnick-Needles Syndrome
Delayed cranial suture closure, Osteolytic defects of the phalanges of the hand, Short thorax, Na... ORPHA:2484
Townes-Brocks Syndrome 2
Spina bifida occulta, Scoliosis OMIM:617466
Atelosteogenesis, Type Ii
Increased intervertebral space, Thoracic hypoplasia, Horizontal sacrum, Cervical kyphosis, Flat a... OMIM:256050
Hyperparathyroidism, Transient Neonatal
Recurrent fractures, Short ribs, Short femur, Wide cranial sutures, Fractured rib, Osteopenia, Su... OMIM:618188
Cardiospondylocarpofacial Syndrome
Fusion of middle ear ossicles, Fused cervical vertebrae, Carpal synostosis, Joint laxity, Joint h... OMIM:157800
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Osteoporosis, Kyphosis, Platyspondyly ORPHA:2786
Progressive Pseudorheumatoid Dysplasia
Camptodactyly of finger, Genu varum, Joint contracture of the hand, Arthropathy, Enlarged interph... OMIM:208230
Thanatophoric Dysplasia Type 2
Short thorax, Encephalocele, Kyphosis, Hydrocephalus, Limitation of joint mobility, Holoprosencep... ORPHA:93274
Osteogenesis Imperfecta, Type Xxi
Bell-shaped thorax, Recurrent fractures, Barrel-shaped chest, Pectus excavatum, Joint hypermobili... OMIM:619131
Osteogenesis Imperfecta, Type Ii
Bell-shaped thorax, Thoracic hypoplasia, Recurrent fractures, Multiple prenatal fractures, Limb u... OMIM:166210
Multiple Epiphyseal Dysplasia, Beighton Type
Biconcave vertebral bodies, Intervertebral space narrowing, Genu valgum, Knee pain, Double-layere... ORPHA:166011
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome
Avascular necrosis, Abnormal intervertebral disk morphology, Platyspondyly, Joint stiffness, Oste... ORPHA:1345
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Short ribs, Thoracic dysplasia, Flat acetabular roof, Mesomelia, Micromelia, Narrow chest, Short ... OMIM:614091
3Mc Syndrome
Hyperlordosis, Caudal appendage, Spina bifida occulta, Scoliosis, Prominent coccyx, Umbilical hernia ORPHA:293843
Short Stature-Deafness-Neutrophil Dysfunction-Dysmorphism Syndrome
Ectopic anus ORPHA:2866
Mosaic Trisomy 14
Camptodactyly of finger, Micrognathia, Short neck, Narrow chest, Abnormal rib morphology ORPHA:1703
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Severe platyspondyly, Rhizomelia, Short metacarpal, Short finger, Cupped ribs, Ovoid vertebral bo... OMIM:608940
Bruck Syndrome 2
Knee flexion contracture, Increased susceptibility to fractures, Flexion contracture, Elbow flexi... OMIM:609220
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome
Abnormal rib morphology ORPHA:2435
Autosomal Recessive Robinow Syndrome
Camptodactyly of finger, Sacral dimple, Kyphosis, Death in infancy, Vertebral segmentation defect... ORPHA:1507
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
11 pairs of ribs, Hemivertebrae, Abnormal vertebral morphology ORPHA:77298
Metaphyseal Chondrodysplasia, Jansen Type
Knee flexion contracture, Hip contracture, Short ribs, Micrognathia, Osteopenia, Pathologic fracture OMIM:156400
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Sprengel anomaly, Scoliosis, Abnormal rib morphology, Hemivertebrae, Abnormal form of the vertebr... ORPHA:2180
Osteopathia Striata-Cranial Sclerosis Syndrome
Spina bifida occulta, Hyperlordosis, Micrognathia, Scoliosis ORPHA:2780
Mucopolysaccharidosis Type 4
Hyperlordosis, Genu valgum, Joint dislocation, Short thorax, Kyphosis, Spinal canal stenosis, Sho... ORPHA:582
Achondrogenesis Type 1A
Short thorax, Abnormal enchondral ossification, Recurrent fractures, Short foot, Multiple rib fra... ORPHA:93299
Carpenter Syndrome 1
Sacral dimple, Aplasia/Hypoplasia of the middle phalanges of the toes, Micrognathia, Spina bifida... OMIM:201000
Ellis-Van Creveld Syndrome
Horizontal ribs, Genu valgum, Capitate-hamate fusion, Short ribs, Acetabular spurs, Narrow chest,... OMIM:225500
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Short tibia, Flexion contracture, Thoracic hypoplasia, Micrognathia, Epiphyseal stippling, Campto... ORPHA:96334
Gm1-Gangliosidosis, Type Iii
Anterior beaking of lumbar vertebrae, Hypoplastic acetabulae, Kyphosis, Scoliosis, Platyspondyly OMIM:230650
Frontal Encephalocele
Spina bifida, Hydrocephalus, Encephalocele ORPHA:1931
Septopreoptic Holoprosencephaly
Abnormal rib morphology, Abnormal vertebral morphology ORPHA:280195
Holt-Oram Syndrome
Absent thumb, Kyphosis, Radioulnar synostosis, Down-sloping shoulders, Pectus excavatum, Phocomel... ORPHA:392
Pallister-Hall Syndrome
Short 4th metacarpal, Hip dislocation, Distal shortening of limbs, Rib fusion, Mesomelia, Hemiver... OMIM:146510
Sacral Defect With Anterior Meningocele
Meningocele, Back pain, Myelomeningocele, Hemisacrum, Hydromyelia, Absence of the sacrum, Anterio... OMIM:600145
Pseudodiastrophic Dysplasia
Hypoplasia of the odontoid process, Camptodactyly, Elbow dislocation, Short neck, Scoliosis, Phal... OMIM:264180
Weaver Syndrome
Kyphosis, Short ribs, Joint contracture of the hand, Accelerated skeletal maturation, Camptodacty... OMIM:277590
Arthrogryposis, Distal, Type 2A
Spina bifida occulta, Kyphoscoliosis, Short neck, Scoliosis OMIM:193700
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities
11 pairs of ribs, Short foot, Micrognathia, Narrow vertebral interpedicular distance, Short dista... OMIM:620073
Spondyloepimetaphyseal Dysplasia, Strudwick Type
Hyperlordosis, Genu valgum, Anterior rib cupping, Hypoplasia of the odontoid process, C1-C2 sublu... OMIM:184250
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Horizontal ribs, Short tibia, Bell-shaped thorax, Rhizomelia, Short ribs, Flat acetabular roof, M... OMIM:616300
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly
Osteoporosis of vertebrae, Multiple small vertebral fractures, Platyspondyly OMIM:156510
Spondyloepimetaphyseal Dysplasia, Shohat Type
Hyperlordosis, Squared-off platyspondyly, Narrow vertebral interpedicular distance, Central verte... ORPHA:93352
Limb Body Wall Complex
Encephalocele, Myelomeningocele, Spina bifida, Short umbilical cord, Anencephaly, Hydrocephalus, ... ORPHA:2369
Dental Anomalies And Short Stature
Intervertebral space narrowing, Narrow vertebral interpedicular distance, Herniation of intervert... OMIM:601216
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type
Thoracic hypoplasia, Flat acetabular roof, Micromelia, Pectus excavatum, Posterior rib cupping, O... OMIM:608728
Robinow Syndrome
Radioulnar dislocation, Micrognathia, Missing ribs, Kyphoscoliosis, Rib fusion, Scoliosis, Mesome... ORPHA:97360
Campomelic Dysplasia
11 pairs of ribs, Tracheobronchomalacia, Recurrent fractures, Kyphosis, Micrognathia, Hip disloca... ORPHA:140
Seckel Syndrome 5
11 pairs of ribs, Micrognathia, Delayed skeletal maturation, Scoliosis, Short middle phalanx of f... OMIM:613823
Spondylometaphyseal Dysplasia, Kozlowski Type
Premature osteoarthritis, Delayed epiphyseal ossification, Lumbar hyperlordosis, Carpal bone hypo... ORPHA:93314
Tetraamelia-Multiple Malformations Syndrome
Micrognathia, Missing ribs, Tetraamelia, Abnormal rib morphology, Abnormally ossified vertebrae ORPHA:3301
Osteogenesis Imperfecta, Type X
Thin bony cortex, Genu valgum, Thoracic hypoplasia, Generalized joint laxity, Rhizomelia, Narrow ... OMIM:613848
Sirenomelia
Spina bifida, Aplasia/Hypoplasia of the radius, Sirenomelia, Absence of the sacrum ORPHA:3169
Wolf-Hirschhorn Syndrome
Sacral dimple, Kyphosis, Abnormal thorax morphology, Micrognathia, Abnormal vertebral morphology,... ORPHA:280
Pseudoachondroplasia
Atlantoaxial dislocation, Irregular carpal bones, Limited elbow extension, Beaking of vertebral b... OMIM:177170
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Shoulder dislocation, Micrognathia, Elbow flexion contracture, Hip dislocation, Dislocated radial... OMIM:245600
Chops Syndrome
Tracheomalacia, Cervical C2/C3 vertebral fusion OMIM:616368
Shprintzen-Goldberg Syndrome
Camptodactyly of finger, Genu valgum, Micrognathia, Missing ribs, Elbow dislocation, Pectus excav... ORPHA:2462
Bruck Syndrome
Recurrent fractures, Kyphosis, Pterygium, Osteoporosis, Scoliosis, Platyspondyly, Joint stiffness... ORPHA:2771
Faciodigitogenital Syndrome, Autosomal Recessive
Vertebral fusion, Camptodactyly, Down-sloping shoulders, Pectus excavatum, Abnormal rib cage morp... OMIM:227330
Acrorenal-Mandibular Syndrome
Abnormal sacral segmentation, Hypoplasia of the radius, Micrognathia, Elbow flexion contracture, ... OMIM:200980
Orofaciodigital Syndrome Xi
Hypoplasia of the odontoid process, Kyphoscoliosis OMIM:612913
Cleidocranial Dysplasia
Micrognathia, Abnormal sacrum morphology, Spina bifida occulta, Scoliosis, Short clavicles, Hypop... ORPHA:1452
Steinfeld Syndrome
Aplasia/Hypoplasia of the thumb, Hypoplasia of the radius, Missing ribs, Abnormal vertebral morph... OMIM:184705
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder
Spina bifida occulta, Scoliosis OMIM:617360
Laryngotracheoesophageal Cleft Type 4
Abnormal rib morphology, Abnormal form of the vertebral bodies ORPHA:93941
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Aplastic clavicle, Short ribs, Short neck, Micromelia, Narrow chest OMIM:616546
Cole-Carpenter Syndrome
Recurrent fractures, Kyphosis, Micrognathia, Wormian bones, Scoliosis, Joint hyperflexibility, Ab... ORPHA:2050
Otopalatodigital Syndrome, Type Ii
Delayed closure of the anterior fontanelle, Micrognathia, Elbow contracture, Pectus excavatum, Sh... OMIM:304120
Pulmonary Edema Of Mountaineers, Susceptibility To
Edema, Pulmonary edema OMIM:178400
3C Syndrome
Kyphosis, Death in infancy, Micrognathia, Missing ribs, Short neck, Scoliosis, Hemivertebrae ORPHA:7
Geroderma Osteodysplastica
Biconcave vertebral bodies, Abnormal bone ossification, Recurrent fractures, Hip dislocation, Sco... ORPHA:2078
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Thin bony cortex, Vertebral arch anomaly, Wide anterior fontanel, Increased bone mineral density,... ORPHA:85184
Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant
Premature osteoarthritis, Platyspondyly OMIM:184840
Squamous Cell Carcinoma Of The Anal Canal
Neoplasm of the liver, Neoplasm of the rectum, Intestinal bleeding, Anal canal squamous cell carc... ORPHA:424019
Osteogenesis Imperfecta, Type Xiii
Enlarged thorax, Recurrent fractures, Increased bone mineral density, Joint hypermobility, Disloc... OMIM:614856
Brachyolmia Type 3
Kyphosis, Barrel-shaped chest, Short neck, Scoliosis, Platyspondyly OMIM:113500
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Coronal craniosynostosis, Fused cervical vertebrae, Micrognathia, Contracture of the distal inter... ORPHA:83617
Mucopolysaccharidosis, Type Ivb
Hyperlordosis, Genu valgum, Prominent sternum, Kyphosis, Ulnar deviation of the wrist, Hypoplasia... OMIM:253010
Cole-Carpenter Syndrome 2
Recurrent fractures, Kyphosis, Coronal craniosynostosis, Microretrognathia, Pectus excavatum, Wid... OMIM:616294
Osteogenesis Imperfecta, Type Viii
Recurrent fractures, Kyphosis, Wide anterior fontanel, Short metacarpal, Joint laxity, Barrel-sha... OMIM:610915
Spondyloepimetaphyseal Dysplasia, Missouri Type
Irregular sclerotic endplates, Genu varum, Flared, irregular rib ends, Pear-shaped vertebrae, Rhi... OMIM:602111
Phaver Syndrome
Camptodactyly of finger, Short thumb, Pterygium, Butterfly vertebrae, Radioulnar synostosis, Abno... ORPHA:2876
Postaxial Acrofacial Dysostosis
Supernumerary vertebrae, Hypoplasia of the radius, Micrognathia, Radioulnar synostosis, Pectus ex... OMIM:263750
Chromosome 16P13.3 Duplication Syndrome
Sacral dimple, Short toe, Tracheobronchomalacia, Short thumb, Micrognathia, Camptodactyly, Hip di... OMIM:613458
Koolen-De Vries Syndrome
Sacral dimple, Vertebral fusion, Kyphosis, Hip dislocation, Joint hypermobility, Pectus excavatum... OMIM:610443
Hall-Riggs Mental Retardation Syndrome
Irregular vertebral endplates, Kyphosis, Delayed skeletal maturation, Scoliosis, Platyspondyly, O... OMIM:234250
Meier-Gorlin Syndrome 3
Genu varum, Short thorax, Patellar hypoplasia, Patellar aplasia, Short ribs, Micrognathia, Micror... OMIM:613803
Microcephaly, Short Stature, And Limb Abnormalities
11 pairs of ribs, Patellar hypoplasia, Patellar aplasia, Short metacarpal, Hypoplasia of the radi... OMIM:617604
Distal Monosomy 10Q
Spina bifida occulta, Short metatarsal, Micrognathia, Lumbar hyperlordosis ORPHA:96148
Baller-Gerold Syndrome
Absent thumb, Aplasia of metacarpal bones, Micrognathia, Short humerus, Spina bifida occulta, Lam... OMIM:218600
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly
Short ribs, Thoracic dysplasia, Lateral clavicle hook, Acetabular spurs, Narrow chest OMIM:615503
Heyn-Sproul-Jackson Syndrome
11 pairs of ribs, Short metacarpal OMIM:618724
Cenani-Lenz Syndrome
Foot oligodactyly, Hypoplasia of the radius, Synostosis of carpal bones, Hip dislocation, Radioul... ORPHA:3258
Fryns Microphthalmia Syndrome
Abnormality of the vertebral column, Neural tube defect OMIM:600776
Ulbright-Hodes Syndrome
Ovoid thoracolumbar vertebrae, Short sternum, Humeroradial synostosis, Short ribs, Short metacarp... ORPHA:3404
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Hip dysplasia, Abnormal metacarpal morphology, Clinodactyly of the 5th finger, Abnormal pelvic gi... ORPHA:2370
Ophthalmoplegia, External, And Myopia
Spina bifida OMIM:311000
Lymphangiectasia, Intestinal
Pedal edema, Edema, Stillbirth OMIM:152800
Seckel Syndrome 8
Spinal cord compression, Kyphoscoliosis, Micrognathia OMIM:615807
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
Hip subluxation, Flexion contracture, Advanced ossification of carpal bones, Micrognathia, Hip di... OMIM:271640
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies
Hypoplastic distal segments of scapulae, Micrognathia, Pectus excavatum, Joint hypermobility, Abn... OMIM:602196
Dyggve-Melchior-Clausen Disease
Camptodactyly, Short neck, Beaking of vertebral bodies, Flat glenoid fossa, Lumbar hyperlordosis,... OMIM:223800
Hemihyperplasia, Isolated
Myelomeningocele OMIM:235000
Mucopolysaccharidosis, Type Iiia
Ovoid thoracolumbar vertebrae, Thickened ribs, Dense calvaria, Scoliosis, Joint stiffness OMIM:252900
Thanatophoric Dysplasia
Short thorax, Kyphosis, Hydrocephalus, Abnormal sacroiliac joint morphology, Joint hyperflexibili... ORPHA:2655
3M Syndrome
Horizontal ribs, Hyperlordosis, Enlarged thorax, Short thorax, Increased vertebral height, Abnorm... ORPHA:2616
Schinzel-Giedion Midface Retraction Syndrome
Short sternum, Metopic suture patent to nasal root, Broad ribs, Short 1st metacarpal, Increased d... OMIM:269150
Schwartz-Jampel Syndrome, Type 1
Wrist flexion contracture, Hip contracture, Joint contracture of the hand, Flexion contracture of... OMIM:255800
Eye Defects-Arachnodactyly-Cardiopathy Syndrome
Radioulnar synostosis, Clinodactyly of the 5th finger, Abnormal pelvic girdle bone morphology, Ab... ORPHA:2725
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Short foot, Rhizomelia, Death in infancy, Micrognathia, Platyspondyly, Short palm, Thin ribs ORPHA:163966
Acalvaria
Spina bifida, Holoprosencephaly, Hydrocephalus ORPHA:945
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Short metatarsal, Short toe, Short thorax, Thoracic hypoplasia, Wide anterior fontanel, Rhizomeli... OMIM:266920
Mucopolysaccharidosis, Type X
Hyperlordosis, Genu valgum, Broad clavicles, Spatulate ribs, Scoliosis, Irregular acetabular roof... OMIM:619698
Cat-Eye Syndrome
Hip dysplasia, Anal atresia ORPHA:195
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Small hand, Spina bifida occulta, Scoliosis, Short palm, Short foot, Umbilical hernia OMIM:235510
Thoraco-Abdominal Enteric Duplication
Camptodactyly of finger, Missing ribs ORPHA:1759
Lymphatic Malformation 2
Lymphedema OMIM:611944
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia
Cleft palate, Aplasia/Hypoplasia of the distal phalanges of the hand, Ectopic anus, Aplasia/Hypop... ORPHA:94066
Duane Retraction Syndrome
Aplasia/Hypoplasia of the thumb, Hypoplasia of the radius, Micrognathia, Spina bifida occulta, Ab... ORPHA:233
Zttk Syndrome
Flexion contracture, Small hand, Kyphosis, Cervical ribs, Joint hypermobility, Rib fusion, Scolio... OMIM:617140
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Abnormal rib morphology, Abnormal sternum morphology, Broad ribs, Short ribs ORPHA:2519
Dyggve-Melchior-Clausen Disease
Genu valgum, Hypoplastic acetabulae, Short thorax, Rhizomelia, Pectus carinatum, Broad carpal bon... ORPHA:239
Wolf-Hirschhorn Syndrome
Sacral dimple, Vertebral fusion, Kyphosis, Micrognathia, Hip dislocation, Radioulnar synostosis, ... OMIM:194190
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Horizontal ribs, Short ribs, Death in infancy, Thoracic dysplasia, Early ossification of capital ... OMIM:208500
Odontochondrodysplasia 1
Biconvex vertebral bodies, Genu varum, Flat acetabular roof, Delayed ossification of carpal bones... OMIM:184260
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2
11 pairs of ribs, Tracheobronchomalacia, Joint hypermobility, Scoliosis, Bicoronal synostosis, Jo... OMIM:619184
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Abnormal rib morphology, Micrognathia, Abnormally ossified vertebrae, Lower limb undergrowth ORPHA:3035
Cantu Syndrome
Cuboid-shaped vertebral bodies, Short neck, Ovoid vertebral bodies, Delayed skeletal maturation, ... OMIM:239850
Autosomal Recessive Stickler Syndrome
Genu valgum, Irregular vertebral endplates, Joint hyperflexibility, Platyspondyly ORPHA:250984
Camptodactyly Syndrome, Guadalajara Type 3
Small hand, Distal shortening of limbs, Spina bifida occulta, Short neck, Short foot ORPHA:488434
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Abnormal bone ossification, Abnormality of the elbow, Abnormality of cranial sutures, Thoracic ky... ORPHA:163649
Kniest Dysplasia
Genu varum, Hip contracture, Hip dislocation, Tracheomalacia, Limitation of joint mobility, Pectu... OMIM:156550
Hirschsprung Disease With Hypoplastic Nails And Dysmorphic Facial Features
Aganglionic megacolon, Anal atresia OMIM:235760
Spondyloepimetaphyseal Dysplasia With Multiple Dislocations
Hip subluxation, Genu varum, Genu valgum, Radial head subluxation, Generalized joint laxity, Kyph... ORPHA:93360
Focal Dermal Hypoplasia
Camptodactyly of finger, Short ribs, Coarse metaphyseal trabecularization, Scoliosis, Short clavi... ORPHA:2092
Mucopolysaccharidosis, Type Iiib
Ovoid thoracolumbar vertebrae, Thickened ribs, Dense calvaria, Joint stiffness OMIM:252920
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Death in infancy, Vertebral segmentation defect, Abnormal rib morphology, Short distal phalanx of... ORPHA:1120
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type
Restricted large joint movement, Delayed ossification of carpal bones, Abnormal vertebral morphol... ORPHA:93346
Osteogenesis Imperfecta, Type Vii
Delayed cranial suture closure, Protrusio acetabuli, Recurrent fractures, Wide anterior fontanel,... OMIM:610682
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome
Sacral dimple, Rib fusion ORPHA:544488
Chondroectodermal Dysplasia With Night Blindness
Abnormality of the knee, Abnormal patella morphology, Delayed skeletal maturation, Osteopenia, Pl... ORPHA:319195
Acro-Renal-Ocular Syndrome
Vertebral fusion, Radial club hand, Vertebral segmentation defect, Hypoplasia of the ulna, Short ... ORPHA:959
Seckel Syndrome 1
11 pairs of ribs, Micrognathia, Elbow flexion contracture, Hip dislocation, Dislocated radial hea... OMIM:210600
Cat-Eye Syndrome (Type I)
Anal atresia DECIPHER:42
Xk Aprosencephaly Syndrome
Abnormal morphology of the radius, Anal atresia ORPHA:3469
Spondyloperipheral Dysplasia-Short Ulna Syndrome
Abnormal hip joint morphology, Abnormality of the vertebral endplates, Platyspondyly, Ovoid verte... ORPHA:1856
Mucopolysaccharidosis, Type Iiic
Ovoid thoracolumbar vertebrae, Thickened ribs, Dense calvaria, Kyphoscoliosis, Beaking of vertebr... OMIM:252930
Anorectal Anomalies
Rectovaginal fistula, Anal atresia OMIM:107100
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Spina bifida, Anencephaly ORPHA:2476
Acro-Renal-Mandibular Syndrome
Pectus carinatum, Kyphosis, Hypoplasia of the radius, Micrognathia, Hip dislocation, Butterfly ve... ORPHA:958
Spondyloepimetaphyseal Dysplasia With Abnormal Dentition
Genu valgum, Irregular vertebral endplates, Joint contracture of the 5th finger, Platyspondyly OMIM:601668
Thymic-Renal-Anal-Lung Dysplasia
Anal atresia OMIM:274265
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome
Kyphosis, Micrognathia, Aplasia/Hypoplasia of toe, Aplasia/Hypoplasia of fingers, Short neck, Abn... ORPHA:3082
Stickler Syndrome Type 1
Joint hyperflexibility, Abnormality of vertebral epiphysis morphology, Osteoarthritis, Platyspondyly ORPHA:90653
Absent Radius-Anogenital Anomalies Syndrome
Hypoplasia of the radius, Rectovaginal fistula, Anal atresia, Oligodactyly, Ectrodactyly, Perinea... ORPHA:3016
Ossification Anomalies-Psychomotor Developmental Delay Syndrome
Generalized bone demineralization, Short 5th finger, Abnormal bone ossification, Micrognathia, Ab... ORPHA:73230
Mucopolysaccharidosis, Type Vii
Anterior beaking of lumbar vertebrae, Genu valgum, Flexion contracture, Kyphosis, Hypoplasia of t... OMIM:253220
Spondylometaphyseal Dysplasia, Pagnamenta Type
Thoracic kyphosis, Delayed skeletal maturation, Wormian bones, Platyspondyly OMIM:619638
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Abnormal rib morphology, Abnormality of the vertebral column, Micrognathia, Sprengel anomaly OMIM:601076
Radial Aplasia, X-Linked
Anal atresia, Absent radius OMIM:312190
Metaphyseal Chondrodysplasia, Schmid Type
Osteosclerosis of ribs, Genu varum, Irregular vertebral endplates, Anterior rib cupping, Abnormal... ORPHA:174
Acrofacial Dysostosis 1, Nager Type
Short toe, Absent thumb, Aplasia/Hypoplasia of the thumb, Abnormality of the cervical spine, Foot... OMIM:154400
Dubowitz Syndrome
Sacral dimple, Aplasia/Hypoplasia of the thumb, Wide anterior fontanel, Small hand, Micrognathia,... ORPHA:235
Rhizomelic Dysplasia, Ain-Naz Type
Limitation of joint mobility, Platyspondyly OMIM:619598
Basilar Impression, Primary
Kyphoscoliosis, Abnormal cervical myelogram, Short neck, Syringomyelia OMIM:109500
Juberg-Hayward Syndrome
Abnormality of the radial head, Aplasia/Hypoplasia of the thumb, Abnormal carpal morphology, Abno... OMIM:216100
3Mc Syndrome 1
Sacral dimple, Short 5th finger, Wide anterior fontanel, Caudal appendage, Spina bifida occulta, ... OMIM:257920
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy
Flexion contracture, Anterior rib cupping, Short femoral neck, Prominent sternum, Thoracic kyphos... OMIM:300232
Cortical Defects, Wormian Bones, And Dentinogenesis Imperfecta
Increased susceptibility to fractures, Delayed closure of the anterior fontanelle, Hyperostosis, ... OMIM:604922
Craniodiaphyseal Dysplasia
Abnormal rib morphology, Craniofacial hyperostosis ORPHA:1513
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome
Hyperlordosis, Craniofacial hyperostosis, Limitation of joint mobility, Delayed skeletal maturati... ORPHA:3068
Short Stature-Craniofacial Anomalies-Genital Hypoplasia Syndrome
Camptodactyly of finger, Triphalangeal thumb, Finger syndactyly, Ectopic anus, Arachnodactyly, Sh... ORPHA:2994
Spondyloepiphyseal Dysplasia Congenita
Back pain, Genu valgum, Knee pain, Limited elbow movement, Kyphosis, Spinal rigidity, Flat acetab... ORPHA:94068
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome
Osteoporosis, Platyspondyly ORPHA:71267
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction
11 pairs of ribs, Micrognathia, Hyperextensibility of the finger joints OMIM:618356
Cranioectodermal Dysplasia 2
Horizontal ribs, Rhizomelia, Short ribs, Micrognathia, Joint laxity, Pectus excavatum, Short neck... OMIM:613610
Camptodactyly Syndrome, Guadalajara, Type Iii
Spina bifida occulta, Short neck OMIM:611929
Loeys-Dietz Syndrome 6
Knee osteoarthritis, Intervertebral disc degeneration, Scoliosis, Hip osteoarthritis OMIM:619656
Lymphatic Malformation 7
Pulmonary edema, Lymphedema, Pericardial effusion, Nonimmune hydrops fetalis, Pleural effusion, E...