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, Anencephaly, Spina bifida occulta, Hydrocephalus, Asymmetry of spinal facet joints... OMIM:182940
Sacral Agenesis With Vertebral Anomalies
Abnormal vertebral morphology, Absence of the sacrum, Neonatal death, Vertebral clefting 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
Spondylosis, Cervical
Spondylolysis, Cervical spondylosis, Spondylolisthesis, Spina bifida occulta OMIM:184300
Acrodysplasia Scoliosis
Scoliosis, Vertebral segmentation defect, Spina bifida occulta ORPHA:2956
Spondylocostal Dysostosis 1, Autosomal Recessive
Kyphoscoliosis, Abnormal odontoid process morphology, Hemivertebrae, Vertebral segmentation defec... OMIM:277300
Spondylocostal Dysostosis 3, Autosomal Recessive
Supernumerary vertebral ossification centers, Scoliosis, Vertebral segmentation defect, Kyphosis,... OMIM:609813
Neural Tube Defects, Susceptibility To
Sacral dimple, Anencephaly, Spina bifida occulta, Hydrocephalus, Asymmetry of spinal facet joints... OMIM:182940
Klippel-Feil Syndrome 3, Autosomal Dominant
Thoracic scoliosis, Cervical C3/C4 vertebral fusion, Cervical C5/C6 vertebrae fusion OMIM:613702
Spondylocostal Dysostosis 2, Autosomal Recessive
Hemivertebrae, Vertebral segmentation defect, Vertebral clefting, Rib fusion, Short neck OMIM:608681
Spondylocostal Dysostosis 5
Butterfly vertebrae, Pectus carinatum, Scoliosis, Hemivertebrae, Missing ribs, Supernumerary ribs... OMIM:122600
Odontoid Hypoplasia
Cervical instability, Atlantoaxial instability, Dystopic os odontoideum, Hypoplasia of the odonto... OMIM:613628
Chondrodysplasia, Blomstrand Type
Stillbirth, Abnormal vertebral morphology, Narrow chest, Short ribs, Micromelia, Accelerated skel... OMIM:215045
Klippel-Feil Syndrome 2, Autosomal Recessive
Fused cervical vertebrae, Cervical C2/C3 vertebral fusion, Scoliosis, Sprengel anomaly, Short neck OMIM:214300
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome
Fused cervical vertebrae, Scoliosis, Short middle phalanx of finger, Thoracic hemivertebrae, Abno... ORPHA:1436
Microcephaly With Cervical Spine Fusion Anomalies
Spinal instability, Vertebral fusion OMIM:251250
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods
Fusion of midcervical facet joints, Widening of cervical spinal canal, Cervical vertebral bodies ... OMIM:606842
Cervical Vertebral Dysplasia
Anterior atlanto-occipital dislocation, Cervical vertebral facet hypoplasia, Cervical vertebral d... OMIM:118005
Mental Retardation, Skeletal Dysplasia, And Abducens Palsy
Fused cervical vertebrae, Scoliosis, Prominent metopic ridge, Short middle phalanx of finger, Tho... OMIM:309620
Isolated Klippel-Feil Syndrome
Abnormal shoulder morphology, Cervical C2/C3 vertebral fusion, Abnormality of the vertebral colum... ORPHA:2345
Spastic Paraplegia 25, Autosomal Recessive
Back pain, Spinal cord compression OMIM:608220
Sprengel Deformity
Scoliosis, Hemivertebrae, Cervical segmentation defect, Spina bifida occulta OMIM:184400
Wildervanck Syndrome
Fused cervical vertebrae OMIM:314600
Kyphomelic Dysplasia
Lateral clavicle hook, Narrow chest, Abnormal form of the vertebral bodies, Short thorax, Flat ac... ORPHA:1801
Diaphanospondylodysostosis
Absent or minimally ossified vertebral bodies, Short thorax, Enlarged thorax, Missing ribs, Short... ORPHA:66637
Vertebral Fusion, Posterior Lumbosacral, With Blepharoptosis
Posterior fusion of lumbosacral vertebrae OMIM:192800
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B
Tarsal synostosis, Fused cervical vertebrae, Scoliosis, Antecubital pterygium, Flexion contractur... OMIM:618469
Autosomal Dominant Spondylocostal Dysostosis
Spina bifida occulta, Short thorax, Scoliosis, Hyperlordosis, Vertebral segmentation defect, Abno... ORPHA:1797
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Abnormal clavicle morphology, Fused cervical vertebrae, Hyperlordosis, Pectus excavatum, Abnormal... ORPHA:2522
Familial Congenital Mirror Movements
Fused cervical vertebrae ORPHA:238722
Metatropic Dysplasia
Kyphoscoliosis, Relatively short spine, Short ribs, Flat acetabular roof, Long coccyx, Kyphosis, ... OMIM:156530
Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome
Sacral dimple, Posterior fusion of lumbosacral vertebrae, Tarsal synostosis, Abnormal form of the... ORPHA:2064
Poland Syndrome
Short ribs, Hemivertebrae, Sprengel anomaly, Unilateral oligodactyly, Rib fusion OMIM:173800
Spondylometaphyseal Dysplasia With Corneal Dystrophy
Beaking of vertebral bodies, Death in childhood, Lumbar platyspondyly, Narrow chest, Increased in... OMIM:618961
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Sacral dimple, Short thorax, Vertebral segmentation defect, Death in infancy, Vertebral fusion OMIM:618845
Thoracomelic Dysplasia
Genu valgum, Bell-shaped thorax, Narrow chest, Hyperlordosis, Short ribs, Limb undergrowth, Joint... ORPHA:1803
Vertebral Hypoplasia With Lumbar Kyphosis
Vertebral hypoplasia, Lumbar kyphosis OMIM:192900
Acropectorovertebral Dysplasia
Spina bifida occulta at S1, Short thumb, Abnormal vertebral morphology, Spina bifida occulta at L5 OMIM:102510
Achondrogenesis Type 2
Abnormal bone ossification, Delayed pubic bone ossification, Narrow chest, Short ribs, Micromelia... ORPHA:93296
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia
Kyphoscoliosis, Butterfly vertebrae, Genu valgum, Delayed pubic bone ossification, Pectus carinat... OMIM:613330
Achondrogenesis, Type Ib
Stillbirth, Absent or minimally ossified vertebral bodies, Narrow chest, Short ribs, Micromelia OMIM:600972
Lipedema
Edema OMIM:614103
Spondylocostal Dysostosis 4, Autosomal Recessive
Abnormal odontoid process morphology, Bell-shaped thorax, Spina bifida occulta, Short thorax, Sco... OMIM:613686
Thanatophoric Dysplasia, Type Ii
Narrow chest, Wide-cupped costochondral junctions, Short ribs, Micromelia, Small abnormally forme... OMIM:187601
Ophthalmoplegia, External, With Rib And Vertebral Anomalies
Pectus carinatum, Scoliosis, Short ribs, Pectus excavatum, Missing ribs OMIM:618155
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Pectus carinatum, Scoliosis, Abnormal rib morphology, Delayed skeletal maturation, Radioulnar syn... ORPHA:3268
Thoracolaryngopelvic Dysplasia
Bell-shaped thorax, Scoliosis, Short ribs, Irregular chondrocostal junctions, Irregular vertebral... OMIM:187760
Fetal Akinesia Deformation Sequence 4
11 pairs of ribs, Camptodactyly, Kyphosis, Prenatal death, Micrognathia, Neonatal death, Short ne... OMIM:618393
Schneckenbecken Dysplasia
Lateral clavicle hook, Stillbirth, Narrow chest, Short ribs, Flat acetabular roof, Narrow vertebr... OMIM:269250
Axial Spondylometaphyseal Dysplasia
Osteopenia, Aplasia/Hypoplasia of the vertebrae, Narrow chest, Upper limb undergrowth, Scoliosis,... ORPHA:168549
Nevus Comedonicus Syndrome
Scoliosis, Abnormal vertebral morphology, Spina bifida occulta, Spina bifida ORPHA:64754
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly
Lateral clavicle hook, Narrow chest, Short ribs, Acetabular spurs, Death in infancy, Trident acet... OMIM:617405
Klippel-Feil Syndrome 1, Autosomal Dominant
Cervical C2/C3 vertebral fusion, Scoliosis, Abnormal rib morphology, Sprengel anomaly, Short neck... OMIM:118100
Neuronal Intranuclear Inclusion Disease
Scoliosis, Spina bifida occulta, Abnormal form of the vertebral bodies ORPHA:2289
Kniest Dysplasia
Joint stiffness, Flexion contracture of finger, Delayed patellar ossification, Short thorax, Apla... ORPHA:485
Ossification Of The Posterior Longitudinal Ligament Of Spine
Spinal cord compression, Myelopathy, Abnormality of the vertebral column OMIM:602475
Cervical Vertebrae, Agenesis Of
Cervical vertebral agenesis OMIM:214290
Iniencephaly
Syringomyelia, Rhizomelia, Anencephaly, Encephalocele, Hydrocephalus, Hyperlordosis, Mandibular a... ORPHA:63259
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism
Cervical C2/C3 vertebral fusion, Thoracolumbar scoliosis, Micrognathia, Flexion contracture, Acet... OMIM:616549
Wildervanck Syndrome
Short neck, Fused cervical vertebrae ORPHA:3456
Fibrochondrogenesis 2
Bell-shaped thorax, Short ribs, Cupped ribs, Micrognathia, Thoracic hypoplasia, Platyspondyly OMIM:614524
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Stillbirth, Decreased cranial base ossification, Rhizomelia, Narrow chest, Severe limb shortening... OMIM:151210
Spondyloepimetaphyseal Dysplasia, Shohat Type
Platyspondyly, Bell-shaped thorax, Vertebral compression fracture, Delayed epiphyseal ossificatio... OMIM:602557
Fibrodysplasia Ossificans Progressiva
Short hallux, Ectopic ossification in tendon tissue, Scoliosis, Ectopic ossification in ligament ... OMIM:135100
Becker Nevus Syndrome
Spina bifida occulta, Pectus carinatum, Scoliosis, Pectus excavatum, Kyphosis, Micromelia, Supern... ORPHA:64755
Multiple Synostoses Syndrome 2
Finger symphalangism, Tarsal synostosis, Proximal symphalangism, Humeroradial synostosis, Carpal ... OMIM:610017
Endosteal Hyperostosis, Worth Type
Clavicular sclerosis, Sclerotic vertebral body, Abnormal cortical bone morphology, Craniofacial h... ORPHA:2790
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type
Genu valgum, Intervertebral space narrowing, Pectus carinatum, Scoliosis, Thoracic kyphosis, Decr... OMIM:609223
Osteopathia Striata-Pigmentary Dermopathy-White Forelock Syndrome
Abnormal metaphysis morphology, Abnormal diaphysis morphology, Abnormal pelvic girdle bone morpho... ORPHA:2779
Atelosteogenesis, Type I
Short metacarpal, Short humerus, Thoracic hypoplasia, Thoracic platyspondyly, Fibular aplasia, Lo... OMIM:108720
Lamb-Shaffer Syndrome
Scoliosis, Thoracic kyphosis, Fused cervical vertebrae, Micrognathia ORPHA:530983
Craniofacial Conodysplasia
Hydrocephalus, Spinal cord compression ORPHA:85168
Spina Bifida-Hypospadias Syndrome
Spinal dysraphism, Spina bifida ORPHA:3176
Angioedema, Hereditary, 6
Angioedema, Facial edema, Edema of the dorsum of hands OMIM:619363
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Death in childhood, Bell-shaped thorax, Narrow chest, Delayed epiphyseal ossification, Short ribs... OMIM:613320
Brachyolmia, Maroteaux Type
Abnormal form of the vertebral bodies, Short thorax, Scoliosis, Pectus excavatum, Platyspondyly ORPHA:93302
Pelvic Dysplasia-Arthrogryposis Of Lower Limbs Syndrome
Sacrococcygeal pilonidal abnormality, Spina bifida occulta ORPHA:2840
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Osteopenia, Periostitis, Fused cervical vertebrae, Broad ribs, Flaring of rib cage, Osteolysis, J... OMIM:612852
Heart Defects-Limb Shortening Syndrome
Narrow chest, Abnormal form of the vertebral bodies, Mesomelic/rhizomelic limb shortening, Abnorm... ORPHA:1354
Femoral-Facial Syndrome
Scoliosis, Vertebral segmentation defect, Abnormal rib morphology, Rib fusion, Aplasia/Hypoplasia... ORPHA:1988
Three M Syndrome 1
Increased vertebral height, Joint dislocation, Spina bifida occulta, Short thorax, Short 5th fing... OMIM:273750
Brachydactyly, Type B1
Joint contracture of the hand, Hypoplastic sacrum, Wide anterior fontanel, Delayed cranial suture... OMIM:113000
Hypophosphatasia, Infantile
Stillbirth, Unossified vertebral bodies, Short ribs, Vertebral clefting, Decreased calvarial ossi... OMIM:241500
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome
Cervical C2/C3 vertebral fusion, Short 3rd metacarpal, Short toe, Short thumb, Short distal phala... ORPHA:370010
Pyknoachondrogenesis
Stillbirth OMIM:265880
Neural Tube Defects, Folate-Sensitive
Spinal dysraphism OMIM:601634
Achondrogenesis, Type Ia
Stillbirth, Hypoplastic sacrum, Hypoplasia of the radius, Bell-shaped thorax, Unossified vertebra... OMIM:200600
Hypomyelination With Brainstem And Spinal Cord Involvement And Leg Spasticity
Tethered cord, Spina bifida occulta OMIM:615281
Isotretinoin Syndrome
Micrognathia, Sacral dimple, Spina bifida occulta ORPHA:2305
Fibrochondrogenesis 1
Short ribs, Thoracic hypoplasia, Long clavicles, Fibular hypoplasia, Rhizomelia, Posterior verteb... OMIM:228520
Stapes Ankylosis With Broad Thumbs And Toes
Short distal phalanx of finger, Proximal/middle symphalangism of 5th finger, Fused cervical verte... OMIM:184460
Infantile-Onset X-Linked Spinal Muscular Atrophy
Kyphoscoliosis, Ankle flexion contracture, Elbow flexion contracture, Short ribs, Cupped ribs, In... ORPHA:1145
Autosomal Dominant Brachyolmia
Kyphoscoliosis, Increased vertebral height, Platyspondyly, Short thorax ORPHA:93304
Autosomal Recessive Spondylocostal Dysostosis
Abnormal intervertebral disk morphology, Spina bifida occulta, Abnormal form of the vertebral bod... ORPHA:2311
Osteodysplasty, Precocious, Of Danks, Mayne, And Kozlowski
Short toe, Short finger, Abnormal long bone morphology, Abnormal pelvic girdle bone morphology OMIM:259270
Spondylometaphyseal Dysplasia, Corner Fracture Type
Hyperconvex vertebral body endplates, Scoliosis, Hypoplasia of the odontoid process, Ovoid verteb... OMIM:184255
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Scoliosis, Hemivertebrae, Short ribs, Thin ribs, Missing ribs, Block vertebrae, Rib fusion, Short... OMIM:271520
Chromosome 8Q22.1 Duplication Syndrome
Cubitus valgus, Cervical C2/C3 vertebral fusion, Short metatarsal, Genu recurvatum, Limitation of... OMIM:151200
Frontometaphyseal Dysplasia 1
Limited elbow movement, Cervical C2/C3 vertebral fusion, Dislocated radial head, Wrist flexion co... OMIM:305620
Developmental And Speech Delay Due To Sox5 Deficiency
Butterfly vertebrae, Pectus carinatum, Scoliosis, Thoracic kyphoscoliosis, Lumbar hyperlordosis, ... ORPHA:313892
Thrombocytopenia-Absent Radius Syndrome
Fibular aplasia, Fused cervical vertebrae, Aplasia/Hypoplasia of the ulna, Aplasia/Hypoplasia of ... ORPHA:3320
Achondrogenesis, Type Ii
Stillbirth, Barrel-shaped chest, Short ribs, Microretrognathia, Horizontal ribs, Absent vertebral... OMIM:200610
Thanatophoric Dysplasia, Type I
Narrow chest, Wide-cupped costochondral junctions, Short ribs, Small abnormally formed scapulae, ... OMIM:187600
Craniodigital-Intellectual Disability Syndrome
Micrognathia, Spina bifida occulta ORPHA:1514
Ehlers-Danlos Syndrome, Classic-Like, 2
Osteopenia, Generalized joint hypermobility, Cervical C2/C3 vertebral fusion, Shoulder dislocatio... OMIM:618000
Multiple Pterygium Syndrome, X-Linked
Short finger, Multiple pterygia, Joint dislocation, Thin ribs, Micrognathia, Abnormal cervical cu... OMIM:312150
Lethal Kniest-Like Dysplasia
Abnormal cartilage matrix, Narrow chest, Wide anterior fontanel, Mesomelic/rhizomelic limb shorte... ORPHA:2347
Osteoarthritis With Mild Chondrodysplasia
Beaking of vertebral bodies, Hip osteoarthritis, Knee osteoarthritis, Heberden's node, Joint stif... OMIM:604864
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Neural tube defect OMIM:615041
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A
Cervical spinal canal stenosis, Popliteal pterygium, Tarsal synostosis, Spondylolisthesis, Multip... OMIM:178110
Dysosteosclerosis
Osteopenia, Clavicular sclerosis, Platyspondyly, Sclerotic scapulae, Narrow chest, Absent frontal... OMIM:224300
Otopalatodigital Syndrome Type 1
Short hallux, Increased bone mineral density, Limitation of joint mobility, Synostosis of carpal ... ORPHA:90650
Greenberg Dysplasia
Short ribs, Decreased skull ossification, Short metacarpal, Multiple prenatal fractures, Hypoplas... OMIM:215140
Anencephaly 1
Anencephaly, Spina bifida OMIM:206500
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Osteopenia, Platyspondyly, Short ribs, Decreased skull ossification, Multiple prenatal fractures,... OMIM:616897
Brachyolmia Type 1, Hobaek Type
Squared-off platyspondyly, Lumbar hypolordosis, Osteopenia, Intervertebral space narrowing, Pectu... OMIM:271530
Bone Dysplasia, Lethal Holmgren Type
Rhizomelia, Bell-shaped thorax, Joint dislocation, Abnormality of the elbow, Narrow chest, Short ... ORPHA:1842
Metatropic Dysplasia
Abnormal cortical bone morphology, Abnormal intervertebral disk morphology, Narrow chest, Abnorma... ORPHA:2635
Multiple Pterygium Syndrome, Lethal Type
Short finger, Multiple pterygia, Joint dislocation, Thin ribs, Micrognathia, Abnormal cervical cu... OMIM:253290
Fibrochondrogenesis
Bell-shaped thorax, Narrow chest, Abnormal form of the vertebral bodies, Wide anterior fontanel, ... ORPHA:2021
Keratoconus Posticus Circumscriptus
Short neck, Limited elbow extension and supination, Abnormal vertebral segmentation and fusion OMIM:244600
Ring Chromosome 21 Syndrome
Scoliosis, Thoracic hemivertebrae, Fused thoracic vertebrae, Abnormal thorax morphology, Small hand ORPHA:1445
Spondyloepiphyseal Dysplasia Tarda, Kohn Type
Restricted large joint movement, Abnormal vertebral morphology, Abnormality of the ankle, Abnorma... ORPHA:163665
Pelvis-Shoulder Dysplasia
Spina bifida occulta, Short clavicles, Back pain, Hypoplastic scapulae, Lumbar hyperlordosis OMIM:169550
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 2
Rhizomelia, 11 pairs of ribs, Narrow chest, Hemivertebrae, Vertebral segmentation defect OMIM:617661
Rhizomelic Chondrodysplasia Punctata
Scoliosis, Limb undergrowth, Rhizomelia, Spina bifida occulta ORPHA:177
Multiple Epiphyseal Dysplasia Type 5
Avascular necrosis of the capital femoral epiphysis, Genu valgum, Intervertebral disk degeneratio... ORPHA:93311
Kbg Syndrome
Scoliosis, Thoracic kyphosis, Persistent open anterior fontanelle, Delayed skeletal maturation, C... ORPHA:2332
Spondylometaphyseal Dysplasia, A4 Type
Limitation of joint mobility, Micromelia, Flared, irregular rib ends, Short palm, Platyspondyly ORPHA:168555
Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis
Joint hypermobility, Cervical C2/C3 vertebral fusion, Camptodactyly OMIM:617333
Osteogenesis Imperfecta, Type Ix
Platyspondyly, Pectus carinatum, Scoliosis, Pectus excavatum, Kyphosis, Multiple prenatal fractur... OMIM:259440
Nuchal Bleb, Familial
Stillbirth, Hydrops fetalis OMIM:257350
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Butterfly vertebrae, Fused cervical vertebrae, Spina bifida occulta, Pectus excavatum, Sprengel a... OMIM:619227
Fibrodysplasia Ossificans Progressiva
Spinal rigidity, Abnormal vertebral morphology, Aplasia/Hypoplasia of the phalanges of the hallux... ORPHA:337
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Vertebral wedging, Short ribs, Missing ribs, Micromelia, Decreased calvarial ossification, Microg... OMIM:617866
Multiple Pterygium Syndrome, Escobar Variant
Dislocated radial head, Kyphosis, Hip dislocation, Axillary pterygium, Long clavicles, Pterygium,... OMIM:265000
Spinal Dysplasia, Anhalt Type
Narrow anterio-posterior vertebral body diameter, Thoracolumbar scoliosis, Thoracic hemivertebrae... OMIM:601344
Pulmonary Hypoplasia, Primary
Neonatal death OMIM:265430
Spondylocamptodactyly Syndrome
Platyspondyly, Camptodactyly of finger, Scoliosis ORPHA:3180
Achondroplasia
Limited elbow extension, Rhizomelia, Short ribs, Death in infancy, Narrow vertebral interpedicula... OMIM:100800
Spondyloepiphyseal Dysplasia, Kimberley Type
Platyspondyly, Delayed skeletal maturation, Genu valgum, Genu varum OMIM:608361
Greenberg Dysplasia
Abnormal bone ossification, Rhizomelia, Narrow chest, Abnormal form of the vertebral bodies, Abno... ORPHA:1426
Bent Bone Dysplasia Syndrome 2
Osteopenia, Butterfly vertebrae, Short 1st metacarpal, Hypoplastic acetabulae, Thin ribs, Short r... OMIM:620076
Osteomesopyknosis
Sclerotic vertebral body, Abnormal cortical bone morphology, Abnormal form of the vertebral bodie... ORPHA:2777
Cerebrofaciothoracic Dysplasia
Bifid ribs, Narrow chest, Scoliosis, Hemivertebrae, Vertebral segmentation defect, Sprengel anoma... ORPHA:1394
Spondyloepiphyseal Dysplasia, Stanescu Type
Kyphoscoliosis, Beaking of vertebral bodies, Stiff neck, Vertebral wedging, Joint stiffness, Plat... OMIM:616583
Mesomelic Dysplasia, Kantaputra Type
Tarsal synostosis, Cubitus valgus, Vertebral segmentation defect, Synostosis of carpal bones, Abn... ORPHA:1836
Thoracic Dysostosis, Isolated
Short ribs, Bell-shaped thorax, Pectus excavatum OMIM:187750
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
Abnormal bone ossification, Reduced bone mineral density, Biconvex vertebral bodies, Pectus carin... ORPHA:93315
Symbrachydactyly Of Hands And Feet
Aplasia/Hypoplasia of the thumb, Scoliosis, Vertebral segmentation defect, Abnormality of the hum... ORPHA:1570
Dyssegmental Dysplasia, Silverman-Handmaker Type
Narrow chest, Pterygium, Miscarriage, Short ribs, Limitation of joint mobility, Anisospondyly, Mi... ORPHA:1865
Brachyolmia Type 1, Toledo Type
Kyphoscoliosis, Squared-off platyspondyly, Abnormal odontoid process morphology, Precocious costo... OMIM:271630
Lymphatic Malformation 8
Stillbirth, Polyhydramnios, Pleural effusion, Generalized edema, Pericardial effusion, Nonimmune ... OMIM:618773
Acrofacial Dysostosis, Catania Type
Short palm, Micrognathia, Spina bifida occulta OMIM:101805
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Scoliosis, Hyperlordosis, Kyphosis, Achilles tendon contracture, Elbow contracture, Vertebral fusion OMIM:606612
Second Metatarsal-Metacarpal Syndrome
Platyspondyly, Synostosis of carpals/tarsals OMIM:269630
Intellectual Developmental Disorder, Autosomal Dominant 52
Cervical C2/C3 vertebral fusion, Pectus carinatum, Scapular winging, Lumbar scoliosis, Lumbar hyp... OMIM:617796
Acrofacial Dysostosis, Palagonia Type
Short 4th metacarpal, Spina bifida occulta, Abnormal form of the vertebral bodies, Scoliosis, Mic... ORPHA:1787
Avascular Necrosis Of Femoral Head, Primary, 2
Platyspondyly, Avascular necrosis of the capital femoral epiphysis OMIM:617383
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis
Scoliosis, Spina bifida occulta OMIM:618736
Spondyloepiphyseal Dysplasia Tarda With Mental Retardation
Platyspondyly, Anterior beaking of lumbar vertebrae OMIM:271620
Spondyloepimetaphyseal Dysplasia, Irapa Type
Abnormal carpal morphology, Genu valgum, Short metatarsal, Upper limb undergrowth, Pectus carinat... ORPHA:93351
Acrocapitofemoral Dysplasia
Pectus carinatum, Delayed ossification of carpal bones, Short ribs, Cupped ribs, Pectus excavatum... OMIM:607778
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Rhizomelia, 11 pairs of ribs, Thin ribs, Hypoplasia of the calcaneus, Decreased skull ossificatio... OMIM:300863
Mosaic Trisomy 20
Fused cervical vertebrae, Narrow chest, Scoliosis, Vertebral segmentation defect, Kyphosis, Spina... ORPHA:1724
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Abnormal form of the vertebral bodies, Hemivertebrae, Missing ribs, Abnormal rib morphology, Join... ORPHA:2759
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness
Carpal bone hypoplasia, Genu valgum, Scoliosis, Short ribs, Cupped ribs, Irregular chondrocostal ... OMIM:250420
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome
Abnormal form of the vertebral bodies, Scoliosis, Hemivertebrae, Kyphosis, Hypoplastic vertebral ... ORPHA:2916
Sifrim-Hitz-Weiss Syndrome
Fused cervical vertebrae, Short clavicles, Flat acetabular roof, Short femoral neck, Wormian bones OMIM:617159
Basal Cell Nevus Syndrome 1
Kyphoscoliosis, Short 4th metacarpal, Short distal phalanx of the thumb, Vertebral wedging, Abnor... OMIM:109400
Seckel Syndrome 4
Steep acetabular roof, 11 pairs of ribs OMIM:613676
Thoracomelic Dysplasia
Short ribs, Bell-shaped thorax OMIM:273740
Shashi-Pena Syndrome
Cervical C2/C3 vertebral fusion, Scoliosis, Short metacarpal, Osteoporosis, Kyphosis, Accelerated... OMIM:617190
Diaphragmatic Hernia 5, X-Linked
Neonatal death OMIM:306950
Spondylometaphyseal Dysplasia, Type A4
Costochondral joint sclerosis, Enlargement of the costochondral junction, Pectus carinatum, Osteo... OMIM:609052
Brachydactylous Dwarfism, Mseleni Type
Osteopenia, Osteoarthritis of the elbow, Abnormality of the wrist, Hip osteoarthritis, Joint subl... ORPHA:2619
Mucolipidosis Iii Alpha/Beta
Carpal bone hypoplasia, Spondylolisthesis, Scoliosis, Short ribs, Limitation of joint mobility, K... OMIM:252600
Blomstrand Lethal Chondrodysplasia
Rhizomelia, Narrow chest, Increased bone mineral density, Broad clavicles, Short thorax, Short ri... ORPHA:50945
Congenital Disorder Of Glycosylation, Type Iig
Kyphoscoliosis, Butterfly vertebrae, Osteopenia, Rhizomelia, Vertebral segmentation defect, Poste... OMIM:611209
Fanconi Anemia, Complementation Group I
Hypoplasia of the radius, Fused cervical vertebrae, Short 1st metacarpal, Absent thumb, Short thu... OMIM:609053
Atelosteogenesis Type Ii
Tracheobronchomalacia, Short ribs, Short metacarpal, Short lower limbs, Thoracic hypoplasia, Rhiz... ORPHA:56304
Gorlin Syndrome
Abnormal vertebral morphology, Vertebral wedging, Scoliosis, Hemivertebrae, Abnormal rib morpholo... ORPHA:377
Epiphyseal Dysplasia, Multiple, 7
Vertebral wedging, Flat acetabular roof, Platyspondyly, Advanced ossification of carpal bones, Ge... OMIM:617719
Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant
Kyphoscoliosis, Barrel-shaped chest, Pectus carinatum, Arthritis, Knee pain, Hypoplasia of the od... OMIM:184100
Braddock Syndrome
Scoliosis, Hemivertebrae, Pectus excavatum, Missing ribs, Micrognathia, Short neck ORPHA:52047
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Scoliosis, Hyperlordosis, Kyphosis, Achilles tendon contracture, Vertebral fusion OMIM:607155
Verheij Syndrome
Scoliosis, Hemivertebrae, Short 5th finger, Joint hypermobility, Short neck, Hip dislocation, Ver... OMIM:615583
Dyssegmental Dysplasia, Rolland-Desbuquois Type
Narrow chest, Short ribs, Limitation of joint mobility, Camptodactyly, Micromelia, Micrognathia, ... OMIM:224400
Pontine Tegmental Cap Dysplasia
Scoliosis, Hemivertebrae, Rib fusion, Ankle clonus OMIM:614688
Spondyloepimetaphyseal Dysplasia, Di Rocco Type
Reduced bone mineral density, Delayed ossification of carpal bones, Irregular acetabular roof, De... OMIM:617974
Femoral-Facial Syndrome
Aplasia/hypoplasia of the femur, 11 pairs of ribs, Encephalocele, Scoliosis, Hemivertebrae, Short... OMIM:134780
Aarskog-Scott Syndrome
Genu recurvatum, Pectus excavatum, Short foot, Camptodactyly of finger, Short palm, Joint hypermo... ORPHA:915
Difference Of Sex Development-Intellectual Disability Syndrome
Short neck, Kyphosis, Spina bifida occulta ORPHA:2983
Frontometaphyseal Dysplasia
Limited elbow movement, Limitation of knee mobility, Dislocated radial head, Wrist flexion contra... ORPHA:1826
White Forelock With Malformations
Spina bifida occulta ORPHA:2475
Dysspondyloenchondromatosis
Kyphoscoliosis, Genu valgum, Joint dislocation, Scoliosis, Vertebral segmentation defect, Anisosp... ORPHA:85198
Spondyloepimetaphyseal Dysplasia, Irapa Type
Limited elbow extension, Hypoplastic sacrum, Genu valgum, Enlargement of the costochondral juncti... OMIM:271650
Cleidocranial Dysplasia 1
Spondylolysis, Delayed pubic bone ossification, Spondylolisthesis, Short ribs, Kyphosis, Hypoplas... OMIM:119600
Meier-Gorlin Syndrome 1
Absent sternal ossification, Pectus carinatum, Short ribs, Death in infancy, Delayed skeletal mat... OMIM:224690
Craniosynostosis 6
Scoliosis, Spina bifida occulta OMIM:616602
Pyknoachondrogenesis
Craniofacial hyperostosis, Short thorax, Short ribs, Enlarged thorax, Micromelia, Abnormal intram... ORPHA:3003
Schneckenbecken Dysplasia
Lateral clavicle hook, Fibular hypoplasia, Narrow chest, Abnormal form of the vertebral bodies, S... ORPHA:3144
Pelvis-Shoulder Dysplasia
Aplasia/hypoplasia of the femur, Long clavicles, Prominent protruding coccyx, Bell-shaped thorax,... ORPHA:2839
Spondylometaphyseal Dysplasia, X-Linked
Pectus carinatum, Hyperextensibility of the finger joints, Kyphosis, Thoracolumbar scoliosis, Hip... OMIM:313420
Classical-Like Ehlers-Danlos Syndrome Type 1
Spina bifida occulta ORPHA:230839
Fountain Syndrome
Spina bifida occulta, Abnormal form of the vertebral bodies, Scoliosis, Kyphosis, Spina bifida, S... ORPHA:3219
Brachyolmia Type 2
Platyspondyly OMIM:613678
Bruck Syndrome 1
Ankle flexion contracture, Pterygium, Vertebral wedging, Pectus carinatum, Scoliosis, Elbow flexi... OMIM:259450
Lymphatic Malformation 11
Lymphedema, Pedal edema OMIM:619401
Cooper-Jabs Syndrome
Reduced bone mineral density, Scoliosis, Abnormal rib morphology, Missing ribs, Camptodactyly of ... ORPHA:1488
Autosomal Recessive Multiple Pterygium Syndrome
Popliteal pterygium, Axillary pterygium, Multiple pterygia, Spina bifida occulta, Pterygium, Abno... ORPHA:2990
Stuve-Wiedemann Syndrome 2
Stillbirth, Scoliosis, Death in adolescence, Camptodactyly, Neonatal death, Thoracic hypoplasia OMIM:619751
Poland Syndrome
Finger symphalangism, Reduced bone mineral density, Spina bifida occulta, Asymmetry of the thorax... ORPHA:2911
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type
Pectus carinatum, Short ribs, Pectus excavatum, Short metacarpal, Thoracic hypoplasia, Short fing... OMIM:271665
Proximal 16P11.2 Microdeletion Syndrome
Abnormal vertebral morphology, Scoliosis, Micrognathia, Rib fusion, Craniosynostosis ORPHA:261197
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Sacral dimple, Spina bifida occulta, Scoliosis, Kyphosis, Micrognathia OMIM:618291
Diastrophic Dysplasia
Kyphoscoliosis, Short finger, Scoliosis, Cervical kyphosis, Hypoplastic cervical vertebrae, Lumba... OMIM:222600
Holoprosencephaly, Semilobar, With Craniosynostosis
Short distal phalanx of finger, Semilobar holoprosencephaly, Hypoplastic vertebral bodies OMIM:601370
Metaphyseal Dysplasia Without Hypotrichosis
Metaphyseal striations, Cone-shaped epiphyses of the phalanges of the hand, Short long bone, Shor... OMIM:250460
Diaphanospondylodysostosis
Absent in utero rib ossification, Lumbosacral meningocele, Bell-shaped thorax, Tracheomalacia, Ab... OMIM:608022
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3
Hypoplasia of the ulna, Multiple joint dislocation, Carpal bone hypoplasia, Platyspondyly, Disloc... OMIM:618395
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia
Spina bifida occulta OMIM:618060
Lethal Congenital Contracture Syndrome 1
Widening of cervical spinal canal, Micrognathia, Neonatal death, Arthrogryposis multiplex congeni... OMIM:253310
Progressive Pseudorheumatoid Arthropathy Of Childhood
Wrist swelling, Hyperlordosis, Generalized osteoporosis, Abnormality of hand joint mobility, Genu... ORPHA:1159
Pallister-Hall-Like Syndrome
Short ribs, Death in infancy, Micromelia, Micrognathia, Hip dislocation OMIM:241800
Osteogenesis Imperfecta, Type Xv
Platyspondyly, Scoliosis, Thin ribs, Joint hypermobility, Bowing of limbs due to multiple fractur... OMIM:615220
Coxopodopatellar Syndrome
Abnormal epiphysis morphology, Aplasia/Hypoplasia of the patella, Abnormal pelvic girdle bone mor... ORPHA:1509
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2
Short neck, Vertebral segmentation defect, Abnormal rib morphology ORPHA:2578
Spondylocostal Dysostosis 6, Autosomal Recessive
Butterfly vertebrae, Scoliosis, Hemivertebrae, Spinal canal stenosis, Cervical kyphosis OMIM:616566
Cdags Syndrome
Lambdoidal craniosynostosis, Short clavicles, Delayed cranial suture closure, Short ribs, Kyphosi... OMIM:603116
Lethal Congenital Contracture Syndrome Type 1
Abnormal cortical bone morphology, Abnormal form of the vertebral bodies, Limitation of joint mob... ORPHA:1486
Spondyloepiphyseal Dysplasia, Kimberley Type
Platyspondyly, Osteoarthritis, Short thorax ORPHA:93283
Osteogenesis Imperfecta, Type V
Osteopenia, Anterior radial head dislocation, Vertebral wedging, Hyperextensibility of the finger... OMIM:610967
Pseudoachondroplasia
Abnormal form of the vertebral bodies, Flat acetabular roof, Increased laxity of ankles, Joint st... ORPHA:750
Caudal Regression Syndrome
Aplasia/Hypoplasia of the sacrum, Scoliosis, Missing ribs, Joint stiffness, Hypoplastic vertebral... ORPHA:3027
Prieto Syndrome
Patellar dislocation, Patellar subluxation, 11 pairs of ribs, Osteoporosis OMIM:309610
Thoracopelvic Dysostosis
Short ribs OMIM:187770
Spondylometaphyseal Dysplasia, Axial
Rhizomelia, Narrow chest, Scoliosis, Anterior rib cupping, Thoracic hypoplasia, Short femoral nec... OMIM:602271
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Stillbirth, Aplasia of the distal phalanx of the 2nd finger, Epiphyseal stippling, Absent toe, Sc... OMIM:308050
Czeizel-Losonci Syndrome
Spina bifida occulta, Hydrocephalus, Myelomeningocele, Spina bifida, Thoracolumbar scoliosis, Mic... ORPHA:2437
Pseudodiastrophic Dysplasia
Platyspondyly, Scoliosis, Elbow dislocation, Phalangeal dislocation ORPHA:85174
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Lateral clavicle hook, Genu valgum, Bell-shaped thorax, Short ribs, Thoracic dysplasia, Thoracic ... OMIM:615630
Microphthalmia, Syndromic 3
Butterfly vertebrae, Hemivertebrae, Vertebral hypoplasia, Missing ribs, Supernumerary ribs, Rib f... OMIM:206900
Morquio Syndrome C
Platyspondyly OMIM:252300
Vertebral Hypersegmentation And Orofacial Anomalies
Scapular winging, Pectus excavatum, Six lumbar vertebrae, Micrognathia, Supernumerary ribs, Joint... OMIM:619122
Spondylocarpotarsal Synostosis Syndrome
Limited elbow extension, Tarsal synostosis, Pectus carinatum, Scoliosis, Hyperlordosis, Vertebral... OMIM:272460
Arnold-Chiari Malformation Type I
Stiff neck, Fused cervical vertebrae, Cervical C2/C3 vertebral fusion, Scoliosis, Anteriorly plac... ORPHA:268882
Spondyloepimetaphyseal Dysplasia, Handigodu Type
Hip subluxation, Abnormal intervertebral disk morphology, Hip osteoarthritis, Abnormality of the ... ORPHA:99642
Spondyloepiphyseal Dysplasia Tarda
Kyphoscoliosis, Limited elbow movement, Abnormally ossified vertebrae, Biconcave vertebral bodies... ORPHA:93284
Pyle Disease
Limited elbow extension, Reduced bone mineral density, Cubitus valgus, Genu valgum, Scoliosis, Pl... OMIM:265900
Split Cord Malformation Type I
Diastomatomyelia, Scoliosis ORPHA:1671
Duane-Radial Ray Syndrome
Hypoplasia of the ulna, Hypoplasia of the radius, Fused cervical vertebrae, Spina bifida occulta,... OMIM:607323
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
11 pairs of ribs, Spondylolisthesis, Spina bifida occulta, Short toe, Short 5th metacarpal OMIM:617877
Alkaptonuria
Limitation of knee mobility, Intervertebral disk degeneration, Arthritis, Arthropathy, Kyphosis, ... OMIM:203500
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome
Abnormal form of the vertebral bodies, Hemivertebrae, Abnormal rib morphology, Abnormality of the... ORPHA:2234
Kbg Syndrome
Thoracic kyphosis, Rib fusion, Delayed skeletal maturation, Short palm, Cervical ribs, Short neck... OMIM:148050
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Abnormal clavicle morphology, Rhizomelia, Narrow chest, Decreased skull ossification, Abnormal ri... ORPHA:93267
Mucopolysaccharidosis, Type Iva
Anterior beaking of lumbar vertebrae, Lumbar kyphosis, Cervical myelopathy, Joint hypermobility, ... OMIM:253000
Microcephaly-Micromelia Syndrome
Narrow chest, Missing ribs, Micromelia, Humeroradial synostosis, Short neck, Forearm undergrowth,... OMIM:251230
Noonan Syndrome 12
Spinal canal stenosis, 11 pairs of ribs, Pectus excavatum OMIM:618624
Phosphoribosylaminoimidazole Carboxylase Deficiency
Short neck, Neonatal death, Missing ribs, Lumbar hemivertebrae OMIM:619859
Neurogenic Thoracic Outlet Syndrome
Abnormal rib morphology ORPHA:100073
Larsen Syndrome
Beaking of vertebral bodies, Multiple carpal ossification centers, Spondylolysis, Short metatarsa... OMIM:150250
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
Beaking of vertebral bodies, Sacral dimple, Bifid ribs, Narrow chest, Hyperextensibility of the f... OMIM:213980
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Abnormality of the cervical spine, Superior rib anomalies OMIM:307500
Diastrophic Dysplasia
Abnormal clavicle morphology, Short finger, Joint dislocation, Abnormal form of the vertebral bod... ORPHA:628
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Beaking of vertebral bodies, Mesomelic arm shortening, Scoliosis, Delayed ossification of carpal ... OMIM:609616
Sillence Syndrome
Short finger, Abnormal vertebral morphology, Intervertebral disk degeneration, Scoliosis, Flat ac... ORPHA:3168
Congenital Disorder Of Glycosylation, Type Ig
Butterfly vertebrae, Hypoplasia of the radius, Rhizomelia, Short ribs, Short humerus, Short femur... OMIM:607143
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Shoulder subluxation, Fused cervical vertebrae, Short 5th finger, Thoracic kyphosis, Hypermobilit... ORPHA:508498
Brachytelephalangic Chondrodysplasia Punctata
Butterfly vertebrae, Cervical spinal canal stenosis, Abnormality of the vertebral column, Short d... ORPHA:79345
Aicardi Syndrome
Butterfly vertebrae, Scoliosis, Missing ribs, Rib fusion, Supernumerary ribs, Block vertebrae, Bi... ORPHA:50
Becker Nevus Syndrome
Scoliosis, Hemivertebrae, Pectus excavatum, Cervical ribs OMIM:604919
Polydactyly, Postaxial, Type A1
Preaxial polydactyly, Triphalangeal thumb, Postaxial hand polydactyly, Y-shaped metacarpals, Anal... OMIM:174200
Spondyloepiphyseal Dysplasia Congenita
Limited elbow movement, Cervical myelopathy, Delayed pubic bone ossification, Barrel-shaped chest... OMIM:183900
Caudal Duplication
Bifid sacrum, Vertebral segmentation defect, Myelomeningocele, Spina bifida, Spinal cord lesion, ... ORPHA:1756
Lateral Meningocele Syndrome
Scoliosis, Wormian bones, Pectus excavatum, Kyphosis, Biconcave vertebral bodies, Micrognathia, S... OMIM:130720
Epiphyseal Dysplasia, Multiple, With Severe Proximal Femoral Dysplasia
Platyspondyly, Genu valgum, Irregularity of vertebral bodies OMIM:609324
Axial Mesodermal Dysplasia Spectrum
Abnormal form of the vertebral bodies, Scoliosis, Vertebral segmentation defect, Abnormal rib mor... ORPHA:1834
Cog1-Cdg
Kyphoscoliosis, Butterfly vertebrae, Osteopenia, Rhizomelia, Vertebral segmentation defect, Flat ... ORPHA:263508
Thakker-Donnai Syndrome
Short neck, Hemivertebrae, Cervical C2/C3 vertebral fusion ORPHA:1780
Spinocerebellar Ataxia-Dysmorphism Syndrome
Spina bifida occulta ORPHA:1185
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Cervical spinal canal stenosis, Rhizomelic leg shortening, Long clavicles, Bell-shaped thorax, Ea... ORPHA:397715
Richieri-Costa/Guion-Almeida Syndrome
Spina bifida occulta OMIM:268850
Robinow Syndrome, Autosomal Recessive 1
Hypoplastic sacrum, Mesomelic arm shortening, Dislocated radial head, Pectus excavatum, Delayed s... OMIM:268310
Spondyloepiphyseal Dysplasia Tarda, X-Linked
Barrel-shaped chest, Hip osteoarthritis, Scoliosis, Limitation of joint mobility, Hump-shaped mou... OMIM:313400
Thrombocytopenia-Absent Radius Syndrome
Death in infancy, Bilateral radial aplasia, Absent thumb, Aplasia/hypoplasia of the humerus, Cerv... OMIM:274000
Nail-Patella Syndrome
Limited elbow extension, Thickening of the lateral border of the scapula, Patellar hypoplasia, Gl... OMIM:161200
Spondylometaphyseal Dysplasia, Sedaghatian Type
Short finger, Rhizomelia, 11 pairs of ribs, Narrow chest, Delayed epiphyseal ossification, Short ... OMIM:250220
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type
Platyspondyly, Scoliosis, Genu varum OMIM:618728
Familial Osteodysplasia, Anderson Type
Aplasia/hypoplasia of the femur, Abnormal cortical bone morphology, Abnormal form of the vertebra... ORPHA:2769
Alagille Syndrome
Hypoplasia of the ulna, Butterfly vertebral arch, Spina bifida occulta, Abnormal form of the vert... ORPHA:52
Apert Syndrome
Limited elbow movement, Lambdoidal craniosynostosis, Delayed epiphyseal ossification, Pectus cari... OMIM:101200
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Lateral clavicle hook, Hypoplasia of the radius, Narrow chest, Short ribs, Micromelia, Thoracic h... OMIM:617895
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Hypoplasia of the ulna, Lateral clavicle hook, Fibular hypoplasia, Scoliosis, Short ribs, Absent ... OMIM:613091
Osteogenesis Imperfecta, Type Iii
Wide anterior fontanel, Scoliosis, Thin ribs, Kyphosis, Biconcave vertebral bodies, Multiple pren... OMIM:259420
Acrocraniofacial Dysostosis
Spina bifida occulta, Abnormal form of the vertebral bodies, Micrognathia, Short distal phalanx o... ORPHA:949
Spondyloepiphyseal Dysplasia, Maroteaux Type
Kyphoscoliosis, Genu valgum, Pectus carinatum, Generalized osteoporosis, Shield chest, Atlantoaxi... OMIM:184095
Van Den Ende-Gupta Syndrome
Lateral clavicle hook, Sacral dimple, Camptodactyly of 2nd-5th fingers, Dislocated radial head, G... OMIM:600920
Ritscher-Schinzel Syndrome 1
Micrognathia, Hemivertebrae, Missing ribs OMIM:220210
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Lateral clavicle hook, Fibular hypoplasia, Narrow chest, Wide anterior fontanel, Short tibia, Sho... OMIM:617925
Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes
Kyphoscoliosis, Lumbar scoliosis, Platyspondyly, Irregular vertebral endplates OMIM:612847
Aicardi Syndrome
Butterfly vertebrae, Scoliosis, Hemivertebrae, Missing ribs, Rib fusion, Supernumerary ribs, Bloc... OMIM:304050
Osteogenesis Imperfecta, Type Xviii
Vertebral compression fracture, Thin ribs, Generalized osteoporosis, Biconcave vertebral bodies, ... OMIM:617952
Otopalatodigital Syndrome Type 2
Fibular aplasia, Tarsal synostosis, Narrow chest, Short hallux, Increased bone mineral density, S... ORPHA:90652
Juberg-Hayward Syndrome
Hypoplasia of the radius, Abnormality of the wrist, Abnormal vertebral morphology, Scoliosis, Abn... ORPHA:2319
Congenital Contractures Of The Limbs And Face, Hypotonia, And Developmental Delay
11 pairs of ribs, Scoliosis, Elbow flexion contracture, Camptodactyly, Congenital contracture, Hi... OMIM:616266
Microcephalic Osteodysplastic Dysplasia, Saul-Wilson Type
Irregularity of vertebral bodies, Short palm, Hypoplasia of the odontoid process, Platyspondyly, ... ORPHA:85172
Ghosal Hematodiaphyseal Dysplasia
Abnormal metaphysis morphology, Diaphyseal undertubulation, Abnormal femur morphology, Abnormal t... ORPHA:1802
Gurrieri Syndrome
Decreased anterioposterior diameter of lumbar vertebral bodies OMIM:601187
Koolen-De Vries Syndrome
Scoliosis, Vertebral segmentation defect, Pectus excavatum, Kyphosis, Joint hypermobility, Hip di... ORPHA:96169
Apert Syndrome
Vertebral segmentation defect, Aplasia/Hypoplasia of the thumb, Micromelia, Cervical C5/C6 verteb... ORPHA:87
Spondylometaphyseal Dysplasia, Kozlowski Type
Kyphoscoliosis, Carpal bone hypoplasia, Pectus carinatum, Scoliosis, Delayed ossification of carp... OMIM:184252
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive
Platyspondyly, Osteoarthritis, Hip osteoarthritis OMIM:271600
Frontometaphyseal Dysplasia 2
Fused cervical vertebrae, Short metatarsal, Dislocated radial head, Scoliosis, Pectus excavatum, ... OMIM:617137
Osteogenesis Imperfecta, Type Xvi
Osteopenia, Platyspondyly, Rhizomelia, Vertebral compression fracture, Narrow chest, Wormian bone... OMIM:616229
Short-Rib Thoracic Dysplasia 12
Short finger, Narrow chest, Short thorax, Short ribs, Hypoplastic scapulae, Short palm, Neonatal ... OMIM:269860
Grant Syndrome
Abnormal cortical bone morphology, Joint dislocation, Narrow chest, Wormian bones, Decreased skul... ORPHA:2097
Hyperparathyroidism, Transient Neonatal
Osteopenia, Subperiosteal bone formation, Narrow chest, Thin ribs, Fractured rib, Short ribs, Und... OMIM:618188
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Lateral clavicle hook, Disproportionate shortening of the tibia, Narrow chest, Pectus carinatum, ... OMIM:263520
Acrofacial Dysostosis, Catania Type
Short palm, Microretrognathia, Spina bifida occulta, Small hand ORPHA:1786
Smith-Mccort Dysplasia 1
Beaking of vertebral bodies, Genu valgum, Barrel-shaped chest, Hypoplastic acetabulae, Scoliosis,... OMIM:607326
Melnick-Needles Syndrome
Osteolytic defects of the phalanges of the hand, Abnormal cortical bone morphology, Craniofacial ... ORPHA:2484
Atelosteogenesis, Type Ii
Increased intervertebral space, Scoliosis, Horizontal sacrum, Flat acetabular roof, Coronal cleft... OMIM:256050
Achondrogenesis Type 1B
Narrow chest, Short thorax, Abnormal rib morphology, Abnormal enchondral ossification, Micromelia... ORPHA:93298
Townes-Brocks Syndrome 2
Scoliosis, Spina bifida occulta OMIM:617466
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Platyspondyly, Osteoporosis, Kyphosis ORPHA:2786
Thanatophoric Dysplasia Type 2
Encephalocele, Narrow chest, Short thorax, Hydrocephalus, Limitation of joint mobility, Kyphosis,... ORPHA:93274
Mosaic Trisomy 14
Narrow chest, Abnormal rib morphology, Camptodactyly of finger, Micrognathia, Short neck ORPHA:1703
Osteogenesis Imperfecta, Type Ii
Absent ossification of calvaria, Platyspondyly, Bell-shaped thorax, Thin ribs, Multiple prenatal ... OMIM:166210
Osteogenesis Imperfecta, Type Xxi
Barrel-shaped chest, Bell-shaped thorax, Scoliosis, Wormian bones, Pectus excavatum, Osteoporosis... OMIM:619131
Weaver Syndrome
Limited elbow extension, Scoliosis, Short ribs, Limited knee extension, Camptodactyly, Kyphosis, ... OMIM:277590
Bruck Syndrome 2
Osteopenia, Pterygium, Pectus carinatum, Wormian bones, Elbow flexion contracture, Flexion contra... OMIM:609220
Progressive Pseudorheumatoid Dysplasia
Kyphoscoliosis, Sclerotic vertebral endplates, Arthropathy, Enlarged interphalangeal joints, Oste... OMIM:208230
Septopreoptic Holoprosencephaly
Abnormal vertebral morphology, Abnormal rib morphology ORPHA:280195
Cardiospondylocarpofacial Syndrome
Tarsal synostosis, Fused cervical vertebrae, Scoliosis, Short foot, Fusion of middle ear ossicles... OMIM:157800
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Narrow chest, Short ribs, Flat acetabular roof, Micromelia, Mesomelia, Thoracic dysplasia, Short ... OMIM:614091
Autosomal Recessive Robinow Syndrome
Sacral dimple, Pectus carinatum, Scoliosis, Vertebral segmentation defect, Synostosis of carpal b... ORPHA:1507
Mucopolysaccharidosis Type 4
Reduced bone mineral density, Genu valgum, Platyspondyly, Joint dislocation, Short thorax, Pectus... ORPHA:582
Multiple Epiphyseal Dysplasia, Beighton Type
Genu valgum, Lumbar platyspondyly, Intervertebral space narrowing, Abnormal lumbar spine morpholo... ORPHA:166011
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome
Abnormal intervertebral disk morphology, Avascular necrosis, Joint stiffness, Osteoarthritis, Pla... ORPHA:1345
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Hemivertebrae, 11 pairs of ribs, Abnormal vertebral morphology ORPHA:77298
Pseudodiastrophic Dysplasia
Scoliosis, Camptodactyly, Hypoplasia of the odontoid process, Tongue-like lumbar vertebral deform... OMIM:264180
Spondyloepimetaphyseal Dysplasia, Shohat Type
Squared-off platyspondyly, Abnormal vertebral morphology, Vertebral compression fracture, Scolios... ORPHA:93352
Carpenter Syndrome 1
Sacral dimple, Spina bifida occulta, Scoliosis, Micrognathia, Umbilical hernia, Aplasia/Hypoplasi... OMIM:201000
Osteopathia Striata-Cranial Sclerosis Syndrome
Micrognathia, Scoliosis, Hyperlordosis, Spina bifida occulta ORPHA:2780
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Kyphoscoliosis, Miscarriage, Short ribs, Pectus excavatum, Thoracic hypoplasia, Long clavicles, S... ORPHA:96334
Osteogenesis Imperfecta, Type X
Osteopenia, Genu valgum, Platyspondyly, Death in childhood, Vertebral compression fracture, Rhizo... OMIM:613848
3Mc Syndrome
Caudal appendage, Spina bifida occulta, Scoliosis, Hyperlordosis, Umbilical hernia, Prominent coccyx ORPHA:293843
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Abnormal form of the vertebral bodies, Scoliosis, Hemivertebrae, Abnormal rib morphology, Sprenge... ORPHA:2180
Ellis-Van Creveld Syndrome
Genu valgum, Narrow chest, Pectus carinatum, Short ribs, Acetabular spurs, Horizontal ribs, Capit... OMIM:225500
Metaphyseal Chondrodysplasia, Jansen Type
Osteopenia, Short ribs, Hip contracture, Micrognathia, Knee flexion contracture, Pathologic fracture OMIM:156400
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome
Abnormal rib morphology ORPHA:2435
Frontal Encephalocele
Hydrocephalus, Encephalocele, Spina bifida ORPHA:1931
Holt-Oram Syndrome
Abnormal clavicle morphology, Scoliosis, Pectus excavatum, Abnormal rib morphology, Kyphosis, Joi... ORPHA:392
Achondrogenesis Type 1A
Narrow chest, Short thorax, Short foot, Abnormal enchondral ossification, Micromelia, Multiple ri... ORPHA:93299
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Stillbirth, Fibular hypoplasia, Rhizomelia, Bell-shaped thorax, Unicoronal synostosis, Narrow che... OMIM:616300
Spondyloepimetaphyseal Dysplasia, Strudwick Type
Genu valgum, Delayed pubic bone ossification, Pectus carinatum, Scoliosis, Hyperlordosis, Hypopla... OMIM:184250
Arthrogryposis, Distal, Type 2A
Kyphoscoliosis, Short neck, Scoliosis, Spina bifida occulta OMIM:193700
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly
Platyspondyly, Multiple small vertebral fractures, Osteoporosis of vertebrae OMIM:156510
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Multiple joint dislocation, Dislocated radial head, Pectus carinatum, Knee dislocation, Generaliz... OMIM:245600
Limb Body Wall Complex
Short umbilical cord, Aplasia/hypoplasia involving bones of the upper limbs, Anencephaly, Encepha... ORPHA:2369
Wolf-Hirschhorn Syndrome
Sacral dimple, Abnormal vertebral morphology, Abnormality of the vertebral column, Abnormal form ... ORPHA:280
Dental Anomalies And Short Stature
Intervertebral space narrowing, Scoliosis, Narrow vertebral interpedicular distance, Delayed skel... OMIM:601216
Tetraamelia-Multiple Malformations Syndrome
Abnormally ossified vertebrae, Missing ribs, Abnormal rib morphology, Micrognathia, Tetraamelia ORPHA:3301
Cole-Carpenter Syndrome
Abnormal form of the vertebral bodies, Scoliosis, Wormian bones, Kyphosis, Abnormal rib morpholog... ORPHA:2050
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities
11 pairs of ribs, Scoliosis, Narrow vertebral interpedicular distance, Short palm, Micrognathia, ... OMIM:620073
Sirenomelia
Aplasia/Hypoplasia of the radius, Sirenomelia, Absence of the sacrum, Spina bifida ORPHA:3169
Seckel Syndrome 5
11 pairs of ribs, Scoliosis, Delayed skeletal maturation, Micrognathia, Short middle phalanx of f... OMIM:613823
Bruck Syndrome
Pterygium, Scoliosis, Wormian bones, Kyphosis, Osteoporosis, Joint stiffness, Platyspondyly, Arth... ORPHA:2771
Robinow Syndrome
Kyphoscoliosis, Mesomelic arm shortening, Scoliosis, Hemivertebrae, Missing ribs, Rib fusion, Mic... ORPHA:97360
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type
Limited elbow extension, Flat acetabular roof, Pectus excavatum, Micromelia, Ovoid vertebral bodi... OMIM:608728
Chops Syndrome
Cervical C2/C3 vertebral fusion, Tracheomalacia OMIM:616368
Campomelic Dysplasia
Fibular hypoplasia, Poorly ossified cervical vertebrae, 11 pairs of ribs, Tracheomalacia, Narrow ... ORPHA:140
Sacral Defect With Anterior Meningocele
Myeloschisis, Hydromyelia, Anterior sacral meningocele, Meningocele, Hydrocephalus, Dermal sinus ... OMIM:600145
Shprintzen-Goldberg Syndrome
Osteopenia, Genu valgum, Narrow chest, Abnormal form of the vertebral bodies, Pectus carinatum, S... ORPHA:2462
Pseudoachondroplasia
Short metacarpal, Kyphosis, Joint hypermobility, Limited shoulder movement, Short distal phalanx ... OMIM:177170
Acrorenal-Mandibular Syndrome
Kyphoscoliosis, Butterfly vertebrae, Hypoplasia of the radius, Hypoplasia of the ulna, Narrow che... OMIM:200980
Pallister-Hall Syndrome
Short 4th metacarpal, Distal shortening of limbs, Hemivertebrae, Shortening of all distal phalang... OMIM:146510
Mayer-Rokitansky-Küster-Hauser Syndrome
Abnormal sacrum morphology, Vertebral segmentation defect, Vertebral fusion, Abnormal form of the... ORPHA:3109
Faciodigitogenital Syndrome, Autosomal Recessive
Pectus excavatum, Camptodactyly, Short foot, Abnormal rib cage morphology, Hyperextensible hand j... OMIM:227330
Orofaciodigital Syndrome Xi
Kyphoscoliosis, Hypoplasia of the odontoid process OMIM:612913
Mucopolysaccharidosis, Type Ivb
Cervical myelopathy, Genu valgum, Scoliosis, Hyperlordosis, Prominent sternum, Kyphosis, Osteopor... OMIM:253010
Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant
Platyspondyly, Premature osteoarthritis OMIM:184840
Otopalatodigital Syndrome, Type Ii
Kyphoscoliosis, Spondylolysis, Short ribs, Pectus excavatum, Short metacarpal, Wormian bones, Del... OMIM:304120
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder
Scoliosis, Spina bifida occulta OMIM:617360
Cleidocranial Dysplasia
Spina bifida occulta, Abnormal sacrum morphology, Short clavicles, Scoliosis, Micrognathia, Hypop... ORPHA:1452
Cole-Carpenter Syndrome 2
Osteopenia, Lambdoidal craniosynostosis, Platyspondyly, Thin ribs, Pectus excavatum, Kyphosis, Co... OMIM:616294
Spondylometaphyseal Dysplasia, Kozlowski Type
Pectus carinatum, Flat acetabular roof, Kyphosis, Genu varum, Scoliosis, Cervical platyspondyly, ... ORPHA:93314
Geroderma Osteodysplastica
Beaking of vertebral bodies, Abnormal bone ossification, Vertebral compression fracture, Abnormal... ORPHA:2078
Laryngotracheoesophageal Cleft Type 4
Abnormal rib morphology, Abnormal form of the vertebral bodies ORPHA:93941
Koolen-De Vries Syndrome
Sacral dimple, Spondylolisthesis, Scoliosis, Pectus excavatum, Kyphosis, Prominent metopic ridge,... OMIM:610443
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Osteopenia, Increased bone mineral density, Wide anterior fontanel, Thin bony cortex, Micrognathi... ORPHA:85184
3C Syndrome
Scoliosis, Hemivertebrae, Missing ribs, Kyphosis, Death in infancy, Micrognathia, Short neck ORPHA:7
Anus, Imperforate
Ectopic anus, Anal atresia OMIM:301800
Osteogenesis Imperfecta, Type Viii
Osteopenia, Platyspondyly, Barrel-shaped chest, Vertebral compression fracture, Wide anterior fon... OMIM:610915
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Long clavicles, Fused cervical vertebrae, Thin ribs, Cleft vertebral arch, Coronal craniosynostos... ORPHA:83617
Brachyolmia Type 3
Barrel-shaped chest, Scoliosis, Kyphosis, Platyspondyly, Short neck OMIM:113500
Osteogenesis Imperfecta, Type Xxiii
Osteopenia, Genu valgum, Reduced bone mineral density, Shallow acetabular fossae, Hip dislocation... OMIM:620639
Osteogenesis Imperfecta, Type Xiii
Kyphoscoliosis, Reduced bone mineral density, Limitation of knee mobility, Dislocated radial head... OMIM:614856
Lymphangiectasia, Intestinal
Edema, Stillbirth, Pedal edema OMIM:152800
Phaver Syndrome
Butterfly vertebrae, Pterygium, Abnormal form of the vertebral bodies, Abnormal rib morphology, J... ORPHA:2876
Steinfeld Syndrome
Hypoplasia of the ulna, Hypoplasia of the radius, Abnormal vertebral morphology, Abnormality of t... OMIM:184705
Pulmonary Edema Of Mountaineers, Susceptibility To
Edema, Pulmonary edema OMIM:178400
Dyggve-Melchior-Clausen Disease
Limited elbow extension, Beaking of vertebral bodies, Genu valgum, Rhizomelia, Abnormality of the... ORPHA:239
Spondyloepimetaphyseal Dysplasia, Missouri Type
Limited elbow extension, Rhizomelia, Pear-shaped vertebrae, Irregular sclerotic endplates, Delaye... OMIM:602111
Hall-Riggs Syndrome
Scoliosis, Kyphosis, Osteoporosis, Delayed skeletal maturation, Irregular vertebral endplates, Pl... OMIM:234250
Distal Deletion 10Q
Micrognathia, Lumbar hyperlordosis, Short metatarsal, Spina bifida occulta ORPHA:96148
Meier-Gorlin Syndrome 3
Patellar hypoplasia, Narrow chest, Tracheomalacia, Absent sternal ossification, Aplasia/Hypoplasi... OMIM:613803
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
Kyphoscoliosis, Dislocated radial head, Cupped ribs, Short metacarpal, Pathologic fracture, Joint... OMIM:271640
Heyn-Sproul-Jackson Syndrome
Short metacarpal, 11 pairs of ribs OMIM:618724
Postaxial Acrofacial Dysostosis
Hypoplasia of the ulna, Hypoplasia of the radius, Pectus excavatum, Congenital hip dislocation, M... OMIM:263750
Congenital Heart Block
Peripheral edema, Congestive heart failure, Hydrops fetalis, Bradycardia, Prolonged QTc interval,... ORPHA:60041
Microcephaly, Short Stature, And Limb Abnormalities
Hypoplasia of the radius, Patellar hypoplasia, 11 pairs of ribs, Dislocated radial head, Short me... OMIM:617604
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly
Lateral clavicle hook, Narrow chest, Short ribs, Acetabular spurs, Thoracic dysplasia OMIM:615503
Chromosome 16P13.3 Duplication Syndrome
Sacral dimple, Tracheobronchomalacia, Pectus excavatum, Camptodactyly, Cervical C5/C6 vertebrae f... OMIM:613458
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Abnormal metaphysis morphology, Clinodactyly of the 5th finger, Abnormal metacarpal morphology, A... ORPHA:2370
Baller-Gerold Syndrome
Limited elbow movement, Carpal bone aplasia, Short humerus, Absent thumb, Absent radius, Craniosy... OMIM:218600
Ulbright-Hodes Syndrome
Hypoplasia of the radius, Fibular aplasia, Thin ribs, Short ribs, Short metacarpal, Abnormal rib ... ORPHA:3404
Ophthalmoplegia, External, And Myopia
Spina bifida OMIM:311000
Seckel Syndrome 8
Kyphoscoliosis, Micrognathia, Spinal cord compression OMIM:615807
Cenani-Lenz Syndrome
Hypoplasia of the ulna, Hypoplasia of the radius, Abnormal form of the vertebral bodies, Scoliosi... ORPHA:3258
3M Syndrome
Hypoplasia of the ulna, Increased vertebral height, Abnormality of the elbow, Short thorax, Scoli... ORPHA:2616
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type
Kyphoscoliosis, Generalized joint hypermobility, Multiple joint dislocation, Genu valgum, Platysp... ORPHA:93360
Mucopolysaccharidosis, Type Iiia
Dense calvaria, Scoliosis, Joint stiffness, Ovoid thoracolumbar vertebrae, Thickened ribs OMIM:252900
Gm1-Gangliosidosis, Type Iii
Anterior beaking of lumbar vertebrae, Hypoplastic acetabulae, Scoliosis, Kyphosis, Platyspondyly OMIM:230650
Thanatophoric Dysplasia
Narrow chest, Short thorax, Hydrocephalus, Kyphosis, Joint stiffness, Abnormal sacroiliac joint m... ORPHA:2655
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies
Pectus excavatum, Abnormal rib morphology, Hypoplastic distal segments of scapulae, Micrognathia,... OMIM:602196
Dyggve-Melchior-Clausen Disease
Multicentric ossification of proximal humeral epiphyses, Pectus carinatum, Multicentric ossificat... OMIM:223800
Hemihyperplasia, Isolated
Myelomeningocele OMIM:235000
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Osteopenia, Rhizomelia, Short metatarsal, Craniosynostosis, Narrow chest, Short thorax, Wide ante... OMIM:266920
Schinzel-Giedion Midface Retraction Syndrome
Long clavicles, Short 1st metacarpal, Wormian bones, Hypoplasia of first ribs, Short neck, Short ... OMIM:269150
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Spina bifida occulta, Scoliosis, Short palm, Umbilical hernia, Short foot, Small hand OMIM:235510
Schwartz-Jampel Syndrome, Type 1
Kyphoscoliosis, Flexion contracture of toe, Shoulder flexion contracture, Pectus carinatum, Scoli... OMIM:255800
Mucopolysaccharidosis, Type X
Beaking of vertebral bodies, Genu valgum, Spatulate ribs, Broad clavicles, Scoliosis, Hyperlordos... OMIM:619698
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Micrognathia, Lower limb undergrowth, Abnormally ossified vertebrae, Abnormal rib morphology ORPHA:3035
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Rhizomelia, Thin ribs, Death in infancy, Short palm, Micrognathia, Platyspondyly, Short foot ORPHA:163966
Kniest Dysplasia
Delayed epiphyseal ossification, Tracheomalacia, Limitation of joint mobility, Pectus excavatum, ... OMIM:156550
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Abnormal sternum morphology, Short ribs, Abnormal rib morphology, Broad ribs ORPHA:2519
Zttk Syndrome
Scoliosis, Hemivertebrae, Kyphosis, Rib fusion, Flexion contracture, Cervical ribs, Joint hypermo... OMIM:617140
Radiohumeral Fusions With Other Skeletal And Craniofacial Anomalies
Brachycephaly, Occipital encephalocele, Oligodactyly, Humeroradial synostosis, Arachnodactyly, Cr... OMIM:614416
Thoraco-Abdominal Enteric Duplication
Camptodactyly of finger, Missing ribs ORPHA:1759
Acalvaria
Hydrocephalus, Holoprosencephaly, Spina bifida ORPHA:945
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome
Sacral dimple, Rib fusion ORPHA:544488
Leukodystrophy, Hypomyelinating, 26, With Chondrodysplasia
Lumbar scoliosis, Scoliosis, Hypoplastic cervical vertebrae OMIM:620269
Mucopolysaccharidosis, Type Iiib
Joint stiffness, Ovoid thoracolumbar vertebrae, Dense calvaria, Thickened ribs OMIM:252920
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type
Restricted large joint movement, Abnormal vertebral morphology, Cervical instability, Delayed oss... ORPHA:93346
Lymphatic Malformation 14
Lymphedema OMIM:620602
Lymphatic Malformation 2
Lymphedema OMIM:611944
Odontochondrodysplasia 1
Biconvex vertebral bodies, Narrow chest, Genu recurvatum, Pectus carinatum, Scoliosis, Delayed os... OMIM:184260
Congenital Muscular Dystrophy, Fukuyama Type
Brachycephaly, Plagiocephaly, Hydrocephalus, Camptodactyly of finger, Dolichocephaly, Intrauterin... ORPHA:272
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2
11 pairs of ribs, Bicoronal synostosis, Tracheobronchomalacia, Scoliosis, Joint stiffness, Short ... OMIM:619184
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Hypoplasia of the ulna, Lateral clavicle hook, Fibular hypoplasia, Early ossification of capital ... OMIM:208500
Autosomal Recessive Stickler Syndrome
Platyspondyly, Joint hypermobility, Genu valgum, Irregular vertebral endplates ORPHA:250984
Cantu Syndrome
Narrow chest, Osteoporosis, Delayed skeletal maturation, Ovoid vertebral bodies, Umbilical hernia... OMIM:239850
Richieri Costa-Da Silva Syndrome
Kyphoscoliosis, Decreased anterioposterior diameter of lumbar vertebral bodies, Vertebral wedging... ORPHA:3101
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Abnormality of cranial sutures, Abnormal bone ossification, Narrow chest, Abnormality of the elbo... ORPHA:163649
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Brachycephaly, Turricephaly, Patent ductus arteriosus, Hydrocephalus, Bowing of the long bones, S... ORPHA:171839
Focal Dermal Hypoplasia
Short clavicles, Scoliosis, Short ribs, Camptodactyly of finger, Coarse metaphyseal trabeculariza... ORPHA:2092
Gómez-López-Hernández Syndrome
Hydrocephalus, Turricephaly, Brachycephaly ORPHA:1532
Wolf-Hirschhorn Syndrome
Sacral dimple, Abnormal sternal ossification, Abnormal form of the vertebral bodies, Short hallux... OMIM:194190
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Narrow chest, Short ribs, Micromelia, Short neck, Aplastic clavicle OMIM:616546
Camptodactyly Syndrome, Guadalajara Type 3
Spina bifida occulta, Small hand, Short neck, Short foot, Distal shortening of limbs ORPHA:488434
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Vertebral segmentation defect, Abnormal rib morphology, Death in infancy, Short thumb, Short dist... ORPHA:1120
Mucopolysaccharidosis, Type Iiic
Kyphoscoliosis, Beaking of vertebral bodies, Dense calvaria, Joint stiffness, Ovoid thoracolumbar... OMIM:252930
Diamond-Blackfan Anemia 1
Hypoplasia of the radius, Hypoplastic coccygeal vertebrae, 11 pairs of ribs, Spina bifida occulta... OMIM:105650
Chondroectodermal Dysplasia With Night Blindness
Osteopenia, Fractures of the long bones, Osteoporosis, Delayed skeletal maturation, Abnormality o... ORPHA:319195
Acro-Renal-Ocular Syndrome
Hypoplasia of the ulna, Radial club hand, Short hallux, Short distal phalanx of the thumb, Verteb... ORPHA:959
Seckel Syndrome 1
11 pairs of ribs, Dislocated radial head, Scoliosis, Elbow flexion contracture, Delayed skeletal ... OMIM:210600
Duane Retraction Syndrome
Hypoplasia of the radius, Spina bifida occulta, Abnormal form of the vertebral bodies, Aplasia/Hy... ORPHA:233
Acrofacial Dysostosis 1, Nager Type
Limited elbow extension, Hypoplasia of the radius, Aplasia/Hypoplasia of the thumb, Scoliosis, Hy... OMIM:154400
Ossification Anomalies-Psychomotor Developmental Delay Syndrome
Abnormal bone ossification, Generalized bone demineralization, Narrow chest, Abnormal form of the... ORPHA:73230
Sacral Agenesis With Vertebral Anomalies
Abnormal vertebral morphology, Absence of the sacrum, Neonatal death, Vertebral clefting OMIM:615709
Anus, Imperforate
Anal atresia OMIM:207500
Spondyloperipheral Dysplasia-Short Ulna Syndrome
Limited elbow extension, Delayed pubic bone ossification, Ovoid vertebral bodies, Platyspondyly, ... ORPHA:1856
Stickler Syndrome Type 1
Platyspondyly, Joint hypermobility, Abnormal vertebral epiphysis morphology, Osteoarthritis ORPHA:90653
Acro-Renal-Mandibular Syndrome
Abnormal clavicle morphology, Butterfly vertebrae, Hypoplasia of the radius, Hypoplasia of the ul... ORPHA:958
Spondyloepiphyseal Dysplasia Congenita
Limited elbow movement, Spinal rigidity, Reduced bone mineral density, Genu valgum, Barrel-shaped... ORPHA:94068
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy
Kyphoscoliosis, Short finger, Platyspondyly, Thin ribs, Thoracic kyphosis, Prominent sternum, Del... OMIM:300232
Dubowitz Syndrome
Sacral dimple, Spina bifida occulta, Aplasia/Hypoplasia of the thumb, Hydrocephalus, Wide anterio... ORPHA:235
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome
Aplasia/Hypoplasia of fingers, Pectus carinatum, Abnormal rib morphology, Kyphosis, Micrognathia,... ORPHA:3082
Mucopolysaccharidosis, Type Vii
Anterior beaking of lumbar vertebrae, Platyspondyly, Spatulate ribs, Acetabular dysplasia, Genu v... OMIM:253220
Holt-Oram Syndrome
Cervical C2/C3 vertebral fusion, Pectus excavatum, Aplasia of the 1st metacarpal, Short humerus, ... OMIM:142900
Spondylometaphyseal Dysplasia, Pagnamenta Type
Platyspondyly, Delayed skeletal maturation, Wormian bones, Thoracic kyphosis OMIM:619638
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Micrognathia, Sprengel anomaly, Abnormal rib morphology, Abnormality of the vertebral column OMIM:601076
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction
Hyperextensibility of the finger joints, Micrognathia, 11 pairs of ribs OMIM:618356
Garg-Mishra Progeroid Syndrome
Narrow chest, Thin ribs, Persistent open anterior fontanelle, Micrognathia, Ovoid vertebral bodie... OMIM:620601
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Hip subluxation, Abnormal vertebral morphology, Fibular hypoplasia, Cervical C2/C3 vertebral fusi... ORPHA:444077
Cranioectodermal Dysplasia 2
Rhizomelia, Narrow chest, Metopic synostosis, Short ribs, Pectus excavatum, Short neck, Micrognat... OMIM:613610
Metaphyseal Chondrodysplasia, Schmid Type
Abnormal vertebral morphology, Osteosclerosis of ribs, Anterior rib cupping, Irregular vertebral ... ORPHA:174
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome
Platyspondyly, Osteoporosis ORPHA:71267
Pentasomy X
Plagiocephaly, Clinodactyly of the 5th finger, Patent ductus arteriosus, Abnormal cardiac septum ... ORPHA:11
Rhizomelic Dysplasia, Ain-Naz Type
Platyspondyly, Limitation of joint mobility OMIM:619598
Craniodiaphyseal Dysplasia
Craniofacial hyperostosis, Abnormal rib morphology ORPHA:1513
Basilar Impression, Primary
Kyphoscoliosis, Short neck, Syringomyelia, Abnormal cervical myelogram OMIM:109500
Arthrogryposis Multiplex Congenita 5
Kyphoscoliosis, Limitation of knee mobility, 11 pairs of ribs, Scoliosis, Elbow flexion contractu... OMIM:618947
Campomelia, Cumming Type
Abnormally ossified vertebrae, Abnormal rib morphology, Micromelia, Death in infancy, Abnormal th... ORPHA:1318
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome
Craniofacial hyperostosis, Pectus carinatum, Hyperlordosis, Limitation of joint mobility, Abnorma... ORPHA:3068
Cornelia De Lange Syndrome 6
Pectus carinatum, Scoliosis, Delayed skeletal maturation, Short palm, Posterior rib fusion, Short... OMIM:620568
3Mc Syndrome 1
Caudal appendage, Sacral dimple, Spina bifida occulta, Wide anterior fontanel, Short 5th finger, ... OMIM:257920
Camptodactyly Syndrome, Guadalajara, Type Iii
Short neck, Spina bifida occulta OMIM:611929
Myhre Syndrome
Short finger, Enlarged vertebral pedicles, Limitation of joint mobility, Camptodactyly, Joint sti... OMIM:139210
Prune Belly Syndrome
Scoliosis, Vertebral segmentation defect, Pectus excavatum, Abnormal rib morphology, Congenital h... ORPHA:2970
Craniometadiaphyseal Dysplasia
Osteopenia, Genu valgum, Cubitus valgus, Wide anterior fontanel, Scoliosis, Wormian bones, Broad ... OMIM:269300
Stickler Syndrome, Type I
Beaking of vertebral bodies, Spondylolisthesis, Arthritis, Scoliosis, Arthropathy, Pectus excavat... OMIM:108300
Osteogenesis Imperfecta, Type Vii
Osteopenia, Rhizomelia, Vertebral compression fracture, Narrow chest, Wide anterior fontanel, Del... OMIM:610682
Odontochondrodysplasia
Platyspondyly, Joint hypermobility, Scoliosis, Narrow chest ORPHA:166272
Gm1-Gangliosidosis, Type I
Beaking of vertebral bodies, Scoliosis, Kyphosis, Death in infancy, Joint stiffness, Hypoplastic ... OMIM:230500
Osteopathia Striata With Cranial Sclerosis
Fibular aplasia, Fibular hypoplasia, Spina bifida occulta, Hydrocephalus, Scoliosis, Paranasal si... OMIM:300373
Lymphatic Malformation 7
Pulmonary edema, Chylothorax, Lymphedema, Pleural effusion, Ascites, Increased nuchal translucenc... OMIM:617300
Smith-Mccort Dysplasia 2
Limited elbow extension, Genu valgum, Barrel-shaped chest, Pectus carinatum, Hyperlordosis, Flat ... OMIM:615222
Simpson-Golabi-Behmel Syndrome
Short 2nd finger, Scoliosis, Vertebral segmentation defect, Pectus excavatum, Abnormal rib morpho... ORPHA:373
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome