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
Myelomeningocele, Sacral dimple, Anencephaly, Absence of the sacrum, Asymmetry of spinal facet jo... OMIM:182940
Sacral Agenesis With Vertebral Anomalies
Absence of the sacrum, Abnormal vertebral morphology OMIM:615709

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Spondylocostal Dysostosis 1, Autosomal Recessive
Block vertebrae, Short neck, Back pain, Death in infancy, Vertebral fusion, Abnormality of the od... OMIM:277300
Spondylosis, Cervical
Spina bifida occulta, Spondylolysis, Spondylolisthesis, Cervical spondylosis OMIM:184300
Acrodysplasia Scoliosis
Spina bifida occulta, Vertebral segmentation defect, Scoliosis ORPHA:2956
Neural Tube Defects, Susceptibility To
Myelomeningocele, Sacral dimple, Anencephaly, Absence of the sacrum, Asymmetry of spinal facet jo... OMIM:182940
Spondylocostal Dysostosis 3, Autosomal Recessive
Kyphosis, Hypoplasia of the odontoid process, Supernumerary vertebral ossification centers, Scoli... OMIM:609813
Spondylocostal Dysostosis 4, Autosomal Recessive
Block vertebrae, Missing ribs, Short thorax, Abnormal rib morphology, Vertebral fusion, Abnormali... OMIM:613686
Klippel-Feil Syndrome 3, Autosomal Dominant
Thoracic scoliosis, Cervical C5/C6 vertebrae fusion, Cervical C3/C4 vertebral fusion OMIM:613702
Spondylocostal Dysostosis 2, Autosomal Recessive
Vertebral clefting, Short neck, Vertebral segmentation defect, Hemivertebrae, Rib fusion OMIM:608681
Gluteal Muscles, Absence Of
Spina bifida occulta, Scoliosis OMIM:231970
Odontoid Hypoplasia
Cervical instability, Hypoplasia of the odontoid process, Atlantoaxial instability, Dystopic os o... OMIM:613628
Spondylocostal Dysostosis 5
Missing ribs, Short neck, Supernumerary ribs, Posterior rib fusion, Scoliosis, Low back pain, Ver... OMIM:122600
Klippel-Feil Syndrome 2, Autosomal Recessive
Cervical C2/C3 vertebral fusion, Short neck, Scoliosis, Sprengel anomaly, Fused cervical vertebrae OMIM:214300
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome
Abnormal sacrum morphology, Scoliosis, Short middle phalanx of finger, Fused cervical vertebrae, ... ORPHA:1436
Microcephaly With Cervical Spine Fusion Anomalies
Vertebral fusion, Spinal instability OMIM:251250
Asymmetric Short Stature Syndrome
Hemihypotrophy of lower limb, Micrognathia, Fused cervical vertebrae, Lumbar scoliosis OMIM:108450
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods
Cervical vertebral bodies with decreased anteroposterior diameter, Widening of cervical spinal ca... OMIM:606842
Mental Retardation, Skeletal Dysplasia, And Abducens Palsy
Prominent metopic ridge, Scoliosis, Short middle phalanx of finger, Fused cervical vertebrae, Tho... OMIM:309620
Corneal Dystrophy, Fuchs Endothelial, 3
Edema OMIM:613267
Cervical Vertebral Dysplasia
Anterior atlanto-occipital dislocation, Cervical vertebral dysplasia, Cervical vertebral facet hy... OMIM:118005
Wildervanck Syndrome
Fused cervical vertebrae OMIM:314600
Isolated Klippel-Feil Syndrome
Abnormality of the vertebral column, Abnormal sacrum morphology, Cervical C2/C3 vertebral fusion,... ORPHA:2345
Kyphomelic Dysplasia
Anterior rib cupping, Missing ribs, Abnormal form of the vertebral bodies, Short thorax, Joint st... ORPHA:1801
Spastic Paraplegia 25, Autosomal Recessive
Spinal cord compression, Back pain OMIM:608220
Spermatogenic Failure 3
Infertility OMIM:606766
Spermatogenic Failure 17
Infertility OMIM:617214
Oocyte Maturation Defect 3
Infertility OMIM:617712
Spermatogenic Failure 27
Infertility OMIM:617965
Oocyte Maturation Defect 4
Infertility OMIM:617743
Oocyte Maturation Defect 5
Infertility OMIM:617996
Sprengel Deformity
Spina bifida occulta, Cervical segmentation defect, Scoliosis, Hemivertebrae OMIM:184400
Dextrocardia With Unusual Facies And Microphthalmia
Vertebral segmentation defect, Supernumerary ribs, Vertebral fusion, Micrognathia OMIM:221950
Vertebral Fusion, Posterior Lumbosacral, With Blepharoptosis
Posterior fusion of lumbosacral vertebrae OMIM:192800
Schneckenbecken Dysplasia
Advanced ossification of carpal bones, Anterior rib cupping, Ovoid vertebral bodies, Short neck, ... OMIM:269250
Diaphanospondylodysostosis
Missing ribs, Absent or minimally ossified vertebral bodies, Short neck, Short thorax, Enlarged t... ORPHA:66637
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Kyphosis, Short neck, Hyperlordosis, Abnormal rib morphology, Abnormal clavicle morphology, Pectu... ORPHA:2522
Autosomal Dominant Spondylocostal Dysostosis
Abnormal sacrum morphology, Missing ribs, Short neck, Short thorax, Hyperlordosis, Posterior rib ... ORPHA:1797
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B
Short neck, Flexion contracture, Antecubital pterygium, Fused thoracic vertebrae, Scoliosis, Fuse... OMIM:618469
Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome
Sacral dimple, Abnormal form of the vertebral bodies, Joint stiffness, Tarsal synostosis, Posteri... ORPHA:2064
Familial Congenital Mirror Movements
Fused cervical vertebrae ORPHA:238722
Poland Syndrome
Short ribs, Sprengel anomaly, Unilateral oligodactyly, Hemivertebrae, Rib fusion OMIM:173800
Thanatophoric Dysplasia, Type Ii
Short ribs, Wide-cupped costochondral junctions, Neonatal death, Platyspondyly, Small abnormally ... OMIM:187601
Metatropic Dysplasia
Cupped ribs, Scoliosis, Arthrogryposis multiplex congenita, Narrow chest, Genu valgum, Long coccy... OMIM:156530
Spondylometaphyseal Dysplasia With Corneal Dystrophy
Lumbar platyspondyly, Short ribs, Thoracic platyspondyly, Beaking of vertebral bodies, Death in c... OMIM:618961
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia
Genu varum, Flexion contracture, Short neck, Short ribs, Delayed pubic bone ossification, Abnorma... OMIM:613330
Vertebral Hypoplasia With Lumbar Kyphosis
Vertebral hypoplasia, Lumbar kyphosis OMIM:192900
Thoracomelic Dysplasia
Short neck, Short ribs, Hyperlordosis, Elbow dislocation, Bell-shaped thorax, Limb undergrowth, N... ORPHA:1803
Sacral Agenesis With Vertebral Anomalies
Absence of the sacrum, Abnormal vertebral morphology OMIM:615709
Chondrocalcinosis Due To Apatite Crystal Deposition
Costochondral pain, Osteoarthritis of the small joints of the hand, Chondrocalcinosis, Costal car... OMIM:118610
Acropectorovertebral Dysplasia
Spina bifida occulta at S1, Short thumb, Abnormal vertebral morphology, Spina bifida occulta at L5 OMIM:102510
Acrofacial Dysostosis, Palagonia Type
Short 4th metacarpal, Hypoplasia of the odontoid process, Abnormal vertebral morphology, Scoliosi... OMIM:601829
Achondrogenesis, Type Ib
Absent or minimally ossified vertebral bodies, Short ribs, Micromelia, Narrow chest, Stillbirth OMIM:600972
Lipedema
Edema OMIM:614103
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Sacral dimple, Short thorax, Vertebral fusion, Death in infancy, Vertebral segmentation defect OMIM:618845
Spondyloepimetaphyseal Dysplasia, Shohat Type
Genu varum, Vertebral hypoplasia, Short neck, Short femoral neck, Short ribs, Joint laxity, Narro... OMIM:602557
Achondrogenesis Type 2
Delayed proximal femoral epiphyseal ossification, Short ribs, Delayed vertebral ossification, Del... ORPHA:93296
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Abnormal rib morphology, Radioulnar synostosis, Scoliosis, Pectus carinatum, Delayed skeletal mat... ORPHA:3268
Achondrogenesis, Type Ia
Short neck, Short ribs, Hypoplastic scapulae, Decreased skull ossification, Hypoplasia of the rad... OMIM:200600
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Short neck, Short ribs, Thin ribs, Decreased cranial base ossification, Disc-like vertebral bodie... OMIM:151210
Split-Hand With Obstructive Uropathy, Spina Bifida, And Diaphragmatic Defects
Spina bifida occulta, Myelomeningocele, Thoracolumbar scoliosis, Hydrocephalus OMIM:183802
Axial Spondylometaphyseal Dysplasia
Cupped ribs, Acromesomelia, Thoracic scoliosis, Delayed ossification of carpal bones, Osteopenia,... ORPHA:168549
Thoracolaryngopelvic Dysplasia
Horizontal ribs, Irregular chondrocostal junctions, Short ribs, Scoliosis, Bell-shaped thorax, Ir... OMIM:187760
Nevus Comedonicus Syndrome
Spina bifida occulta, Spina bifida, Abnormal vertebral morphology, Scoliosis ORPHA:64754
Fibrodysplasia Ossificans Progressiva
Small cervical vertebral bodies, Ectopic ossification in ligament tissue, Short hallux, Scoliosis... OMIM:135100
Wildervanck Syndrome
Short neck, Fused cervical vertebrae ORPHA:3456
Klippel-Feil Syndrome 1, Autosomal Dominant
Cervical C2/C3 vertebral fusion, Short neck, Abnormal rib morphology, Scoliosis, Sprengel anomaly... OMIM:118100
Iniencephaly
Myelomeningocele, Syringomyelia, Absent vertebra, Rhizomelia, Anencephaly, Hyperlordosis, Spinal ... ORPHA:63259
Kniest Dysplasia
Coronal cleft vertebrae, Abnormal joint morphology, Delayed patellar ossification, Short neck, Sh... ORPHA:485
Ossification Of The Posterior Longitudinal Ligament Of Spine
Abnormality of the vertebral column, Spinal cord compression, Myelopathy OMIM:602475
Neuronal Intranuclear Inclusion Disease
Spina bifida occulta, Scoliosis, Abnormal form of the vertebral bodies ORPHA:2289
Chondrodysplasia, Blomstrand Type
Accelerated skeletal maturation, Advanced ossification of carpal bones, Advanced tarsal ossificat... OMIM:215045
Cervical Vertebrae, Agenesis Of
Cervical vertebral agenesis OMIM:214290
Spina Bifida-Hypospadias Syndrome
Spinal dysraphism, Spina bifida ORPHA:3176
Ophthalmoplegia, External, With Rib And Vertebral Anomalies
Short ribs, Scoliosis, Missing ribs, Pectus excavatum OMIM:618155
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism
Cervical C2/C3 vertebral fusion, Flexion contracture, Short neck, Thoracolumbar scoliosis, Microg... OMIM:616549
Endosteal Hyperostosis, Worth Type
Clavicular sclerosis, Abnormal form of the vertebral bodies, Craniofacial hyperostosis, Sclerotic... ORPHA:2790
Multiple Synostoses Syndrome 2
Carpal synostosis, Finger symphalangism, Proximal symphalangism, Vertebral fusion, Humeroradial s... OMIM:610017
Neural Tube Defects, Folate-Sensitive
Spinal dysraphism OMIM:601634
Thanatophoric Dysplasia, Type I
Short ribs, Wide-cupped costochondral junctions, Neonatal death, Small abnormally formed scapulae... OMIM:187600
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A
Carpal synostosis, Craniosynostosis, Short neck, Elbow flexion contracture, Knee flexion contract... OMIM:178110
Acrocapitofemoral Dysplasia
Cupped ribs, Genu varum, Small finger, Delayed ossification of carpal bones, Micromelia, Scoliosi... OMIM:607778
Atelosteogenesis, Type I
Coronal cleft vertebrae, Vertebral hypoplasia, Thoracic platyspondyly, 11 pairs of ribs, Microgna... OMIM:108720
Osteopathia Striata-Pigmentary Dermopathy-White Forelock Syndrome
Abnormality of pelvic girdle bone morphology, Osteopathia striata, Abnormality of the metaphysis,... ORPHA:2779
Achondrogenesis, Type Ii
Horizontal ribs, Short ribs, Barrel-shaped chest, Absent vertebral body mineralization, Stillbirth OMIM:200610
Cardiospondylocarpofacial Syndrome
Carpal synostosis, Joint laxity, Scoliosis, Synostosis of carpals/tarsals, Fused cervical vertebr... OMIM:157800
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type
Genu varum, Thoracic kyphosis, Decreased hip abduction, Intervertebral space narrowing, Platyspon... OMIM:609223
Lamb-Shaffer Syndrome
Scoliosis, Thoracic kyphosis, Fused cervical vertebrae, Micrognathia ORPHA:530983
Fibrochondrogenesis 2
Short ribs, Platyspondyly, Micrognathia, Bell-shaped thorax, Thoracic hypoplasia OMIM:614524
Kbg Syndrome
Cervical ribs, Thoracic kyphosis, Vertebral fusion, Delayed skeletal maturation, Rib fusion, Vert... OMIM:148050
Acrofacial Dysostosis, Catania Type
Spina bifida occulta, Short palm OMIM:101805
Becker Nevus Syndrome
Supernumerary ribs, Kyphosis, Pectus excavatum, Micromelia, Scoliosis, Pectus carinatum, Spina bi... ORPHA:64755
Angioedema, Hereditary, 6
Facial edema, Angioedema, Edema of the dorsum of hands OMIM:619363
Brachyolmia, Maroteaux Type
Short thorax, Abnormal form of the vertebral bodies, Platyspondyly, Pectus excavatum, Scoliosis ORPHA:93302
Symbrachydactyly Of Hands And Feet
Abnormality of the humeroulnar joint, Aplasia/Hypoplasia of the thumb, Scoliosis, Vertebral segme... ORPHA:1570
Hypomyelination With Brainstem And Spinal Cord Involvement And Leg Spasticity
Spina bifida occulta, Tethered cord OMIM:615281
Pyknoachondrogenesis
Stillbirth OMIM:265880
Brachydactyly, Type B1
Hypoplastic sacrum, Aplasia/Hypoplasia of the distal phalanges of the toes, Thoracolumbar scolios... OMIM:113000
Frontometaphyseal Dysplasia 1
Increased density of long bone diaphyses, Partial fusion of tarsals, Elbow flexion contracture, C... OMIM:305620
Hypophosphatasia, Infantile
Decreased calvarial ossification, Vertebral clefting, Craniosynostosis, Short ribs, Rachitic rosa... OMIM:241500
Femoral-Facial Syndrome
Abnormal sacrum morphology, Abnormal rib morphology, Micrognathia, Radioulnar synostosis, Scolios... ORPHA:1988
Pelvic Dysplasia-Arthrogryposis Of Lower Limbs Syndrome
Spina bifida occulta, Sacrococcygeal pilonidal abnormality ORPHA:2840
Heart Defects-Limb Shortening Syndrome
Accelerated skeletal maturation, Kyphosis, Abnormal form of the vertebral bodies, Abnormal rib mo... ORPHA:1354
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis
Osteopenia, Periostitis, Flaring of rib cage, Osteomyelitis, Osteolysis, Fused cervical vertebrae... OMIM:612852
Craniofacial Conodysplasia
Spinal cord compression, Hydrocephalus ORPHA:85168
Stapes Ankylosis With Broad Thumbs And Toes
Short distal phalanx of finger, Proximal/middle symphalangism of 5th finger, Fused cervical verte... OMIM:184460
Three M Syndrome 1
Short neck, Short thorax, Increased vertebral height, Short ribs, Short 5th finger, Hyperlordosis... OMIM:273750
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome
Cervical C2/C3 vertebral fusion, Short 5th metacarpal, Short distal phalanx of the thumb, Short t... ORPHA:370010
Spondylometaphyseal Dysplasia, Corner Fracture Type
Ovoid vertebral bodies, Short femoral neck, Hypoplasia of the odontoid process, Scoliosis, Hyperc... OMIM:184255
Fibrochondrogenesis 1
Fibular hypoplasia, Posterior vertebral hypoplasia, Widely patent coronal suture, Small hand, Sho... OMIM:228520
Rhizomelic Dysplasia, Scoliosis, And Retinitis Pigmentosa
Short neck, Short femoral neck, Short ribs, Rhizomelia, Scoliosis, Short humerus, Short clavicles... OMIM:610319
Isotretinoin Syndrome
Spina bifida occulta, Sacral dimple, Micrognathia ORPHA:2305
Infantile-Onset X-Linked Spinal Muscular Atrophy
Cupped ribs, Short ribs, Ankle flexion contracture, Knee flexion contracture, Hip contracture, Ar... ORPHA:1145
Autosomal Dominant Brachyolmia
Kyphoscoliosis, Short thorax, Platyspondyly, Increased vertebral height ORPHA:93304
Neural Tube Defects, X-Linked
Spina bifida, Anencephaly OMIM:301410
Anencephaly 1
Anencephaly, Spina bifida OMIM:206500
Autosomal Recessive Spondylocostal Dysostosis
Kyphosis, Short neck, Abnormal form of the vertebral bodies, Short thorax, Abnormal rib morpholog... ORPHA:2311
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Block vertebrae, Short neck, Missing ribs, Short ribs, Supernumerary vertebrae, Thin ribs, Scolio... OMIM:271520
Thrombocytopenia-Absent Radius Syndrome
Genu varum, Cervical ribs, Phocomelia, Absent radius, Micrognathia, Scoliosis, Patellar dislocati... ORPHA:3320
Chromosome 8Q22.1 Duplication Syndrome
Cervical C2/C3 vertebral fusion, Joint stiffness, Short palm, Short metacarpal, Short thumb, Enla... OMIM:151200
Osteodysplasty, Precocious, Of Danks, Mayne, And Kozlowski
Abnormality of long bone morphology, Abnormality of pelvic girdle bone morphology, Short finger, ... OMIM:259270
Lethal Kniest-Like Dysplasia
Coronal cleft vertebrae, Anterior rib cupping, Short neck, Hypoplastic vertebral bodies, Short ri... ORPHA:2347
Craniodigital-Intellectual Disability Syndrome
Spina bifida occulta, Micrognathia ORPHA:1514
Verheij Syndrome
Short neck, Short 5th finger, Scoliosis, Vertebral fusion, Hemivertebrae, Hip dislocation OMIM:615583
Multiple Pterygium Syndrome, X-Linked
Flexion contracture, Thin ribs, Increased susceptibility to fractures, Joint dislocation, Microgn... OMIM:312150
Osteoarthritis With Mild Chondrodysplasia
Heberden's node, Joint stiffness, Hip osteoarthritis, Knee osteoarthritis, Beaking of vertebral b... OMIM:604864
Brachyolmia Type 1, Hobaek Type
Kyphosis, Short neck, Osteopenia, Intervertebral space narrowing, Back pain, Sclerotic foci of me... OMIM:271530
Dysosteosclerosis
Clavicular sclerosis, Absent paranasal sinuses, Osteopenia, Hypoplastic vertebral bodies, Short s... OMIM:224300
Metatropic Dysplasia
Abnormal cortical bone morphology, Kyphosis, Abnormal form of the vertebral bodies, Camptodactyly... ORPHA:2635
Otopalatodigital Syndrome Type 1
Synostosis of carpal bones, Hypoplastic frontal sinuses, Increased bone mineral density, Short pa... ORPHA:90650
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Wormian bones, Short neck, Short ribs, Dysplastic sacrum, Micromelia, Bell-shaped thorax, Narrow ... OMIM:613320
Multiple Pterygium Syndrome, Lethal Type
Flexion contracture, Thin ribs, Increased susceptibility to fractures, Joint dislocation, Microgn... OMIM:253290
Fibrochondrogenesis
Short neck, Abnormal form of the vertebral bodies, Camptodactyly of finger, Short ribs, Hypoplast... ORPHA:2021
Bone Dysplasia, Lethal Holmgren Type
Short neck, Short ribs, Rhizomelia, Joint dislocation, Micromelia, Bell-shaped thorax, Narrow che... ORPHA:1842
Ring Chromosome 21 Syndrome
Abnormal thorax morphology, Fused thoracic vertebrae, Scoliosis, Small hand, Thoracic hemivertebrae ORPHA:1445
Keratoconus Posticus Circumscriptus
Limited elbow extension and supination, Abnormal vertebral segmentation and fusion, Short neck OMIM:244600
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Wormian bones, Short neck, Flexion contracture, Multiple prenatal fractures, Osteopenia, Short ri... OMIM:616897
Developmental And Speech Delay Due To Sox5 Deficiency
Thoracic kyphoscoliosis, Lumbar hyperlordosis, Scoliosis, Vertebral fusion, Butterfly vertebrae, ... ORPHA:313892
Spondylometaphyseal Dysplasia, A4 Type
Short palm, Platyspondyly, Micromelia, Flared, irregular rib ends, Limitation of joint mobility ORPHA:168555
Spondyloepiphyseal Dysplasia Tarda, Kohn Type
Restricted large joint movement, Abnormal vertebral morphology, Abnormality of the ankles, Platys... ORPHA:163665
Greenberg Dysplasia
Hypoplastic vertebral bodies, Multiple prenatal fractures, 11 pairs of ribs, Decreased skull ossi... OMIM:215140
Vater-Like Defects With Pulmonary Hypertension, Laryngeal Webs, And Growth Deficiency
Abnormal rib cage morphology, Pectus excavatum, Hemivertebrae, Posterior rib fusion OMIM:608406
Rhizomelic Chondrodysplasia Punctata
Spina bifida occulta, Scoliosis, Rhizomelia, Limb undergrowth ORPHA:177
Multiple Epiphyseal Dysplasia Type 5
Knee pain, Genu varum, Premature osteoarthritis, Joint stiffness, Decreased hip abduction, Interv... ORPHA:93311
Kbg Syndrome
Thoracic kyphosis, Short neck, Cervical ribs, Persistent open anterior fontanelle, Scoliosis, Ver... ORPHA:2332
Multiple Pterygium Syndrome, Escobar Variant
Intercrural pterygium, Anterior clefting of vertebral bodies, Kyphosis, Popliteal pterygium, Disl... OMIM:265000
Spondyloepiphyseal Dysplasia, Stanescu Type
Joint stiffness, Beaking of vertebral bodies, Platyspondyly, Kyphoscoliosis, Stiff neck OMIM:616583
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Achilles tendon contracture, Kyphosis, Hyperlordosis, Scoliosis, Vertebral fusion OMIM:606612
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Pectus excavatum, Sprengel anomaly, Fused cervical vertebrae, Butterfly vertebrae, Spina bifida o... OMIM:619227
Pelvis-Shoulder Dysplasia
Hypoplastic scapulae, Back pain, Lumbar hyperlordosis, Spina bifida occulta, Short clavicles OMIM:169550
Osteogenesis Imperfecta, Type Ix
Decreased calvarial ossification, Wormian bones, Kyphosis, Recurrent fractures, Multiple prenatal... OMIM:259440
Nuchal Bleb, Familial
Hydrops fetalis, Stillbirth OMIM:257350
Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly
Short ribs, Narrow chest, Scoliosis OMIM:613819
Pulmonary Hypoplasia, Primary
Neonatal death OMIM:265430
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Decreased calvarial ossification, Missing ribs, Short ribs, Vertebral wedging, Platyspondyly, Mic... OMIM:617866
Spinal Dysplasia, Anhalt Type
Narrow anterio-posterior vertebral body diameter, Thoracolumbar scoliosis, Spinal dysplasia, Abse... OMIM:601344
Spondylocamptodactyly Syndrome
Camptodactyly of finger, Scoliosis, Platyspondyly ORPHA:3180
Mesomelic Dysplasia, Kantaputra Type
Synostosis of carpal bones, Abnormal rib morphology, Abnormality of the ankles, Cubitus valgus, T... ORPHA:1836
Spondyloepiphyseal Dysplasia, Kimberley Type
Genu varum, Genu valgum, Delayed skeletal maturation, Platyspondyly OMIM:608361
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia
Shoulder dislocation, Genu varum, Phocomelia, Absent radius, Fibular hypoplasia, Lateral clavicle... OMIM:171480
Lethal Congenital Contracture Syndrome 3
Neonatal death, Multiple joint contractures, Arthrogryposis multiplex congenita OMIM:611369
Osteomesopyknosis
Kyphosis, Abnormal form of the vertebral bodies, Increased bone mineral density, Sclerotic verteb... ORPHA:2777
Thoracic Dysostosis, Isolated
Short ribs, Bell-shaped thorax, Pectus excavatum OMIM:187750
Bone Dysplasia, Lethal, Holmgren Type
Short ribs, Narrow chest, Bell-shaped thorax OMIM:211120
Lymphatic Malformation 8
Nonimmune hydrops fetalis, Pleural effusion, Polyhydramnios, Generalized edema, Stillbirth, Peric... OMIM:618773
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
Genu varum, Vertebral hypoplasia, Abnormal bone ossification, Scoliosis, Vertebral fusion, Limb p... ORPHA:93315
Polydactyly, Postaxial, With Dental And Vertebral Anomalies
Tarsal synostosis, Hypoplastic vertebral bodies, Narrow chest, Pectus excavatum, Spinal canal ste... OMIM:263540
Cerebrofaciothoracic Dysplasia
Short neck, Bifid ribs, Scoliosis, Sprengel anomaly, Narrow chest, Vertebral segmentation defect,... ORPHA:1394
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Rhizomelia, 11 pairs of ribs, Thin ribs, Decreased skull ossification, Platyspondyly, Hypoplasia ... OMIM:300863
Second Metatarsal-Metacarpal Syndrome
Synostosis of carpals/tarsals, Platyspondyly OMIM:269630
Mucolipidosis Iii Alpha/Beta
Craniosynostosis, Shallow acetabular fossae, Short ribs, Scoliosis, Irregular carpal bones, Broad... OMIM:252600
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome
Kyphosis, Abnormal form of the vertebral bodies, Hypoplastic vertebral bodies, Elbow dislocation,... ORPHA:2916
Acrofacial Dysostosis, Palagonia Type
Short neck, Abnormal form of the vertebral bodies, Short 4th metacarpal, Micrognathia, Scoliosis,... ORPHA:1787
Spondyloepimetaphyseal Dysplasia, Irapa Type
Synostosis of carpal bones, Short palm, Short metacarpal, Upper limb undergrowth, Osteoporosis, O... ORPHA:93351
Spondyloepiphyseal Dysplasia Tarda With Mental Retardation
Anterior beaking of lumbar vertebrae, Platyspondyly OMIM:271620
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Missing ribs, Abnormal form of the vertebral bodies, Abnormal rib morphology, Joint hyperflexibil... ORPHA:2759
Absence Deformity Of Leg-Cataract Syndrome
Abnormality of epiphysis morphology, Lower limb undergrowth, Abnormality of femur morphology, Ana... ORPHA:2310
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis
Spina bifida occulta, Scoliosis OMIM:618736
Dysspondyloenchondromatosis
Enlarged joints, Multiple enchondromatosis, Generalized joint laxity, Osteoarthritis, Platyspondy... ORPHA:85198
Hyperparathyroidism, Transient Neonatal
Short ribs, Thin ribs, Narrow chest, Osteopenia OMIM:618188
Mosaic Trisomy 20
Kyphosis, Down-sloping shoulders, Micrognathia, Scoliosis, Spinal canal stenosis, Vertebral fusio... ORPHA:1724
Spondylometaphyseal Dysplasia, Type A4
Enlargement of the costochondral junction, Ovoid vertebral bodies, Osteoporotic tarsals, Irregula... OMIM:609052
Thoracomelic Dysplasia
Short ribs, Bell-shaped thorax OMIM:273740
Fanconi Anemia, Complementation Group I
Absent thumb, Short neck, Short thumb, Hypoplasia of the radius, Short 1st metacarpal, Fused cerv... OMIM:609053
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Vertebral hypoplasia, Flexion contracture, Short ribs, Epiphyseal stippling, Congenital hip dislo... OMIM:308050
Hypertelorism And Tetralogy Of Fallot
Spina bifida occulta OMIM:239711
Greenberg Dysplasia
Anterior rib punctate calcifications, Abnormal form of the vertebral bodies, Abnormal pelvis bone... ORPHA:1426
Brachydactylous Dwarfism, Mseleni Type
Joint subluxation, Osteopenia, Hip osteoarthritis, Knee osteoarthritis, Platyspondyly, Abnormalit... ORPHA:2619
Hernia, Anterior Diaphragmatic
Neonatal death OMIM:306950
Craniosynostosis 6
Spina bifida occulta, Scoliosis OMIM:616602
Bruck Syndrome 1
Kyphosis, Pterygium, Vertebral wedging, Joint laxity, Osteoporosis, Increased susceptibility to f... OMIM:259450
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density
Hypoplasia of the ulna, Lumbar platyspondyly, Fibular hypoplasia, Hypoplasia of the radius, Absen... OMIM:601376
Braddock Syndrome
Missing ribs, Short neck, Micrognathia, Pectus excavatum, Scoliosis, Hemivertebrae ORPHA:52047
Basal Cell Nevus Syndrome
Supernumerary ribs, Irregular ossification of hand bones, Short distal phalanx of the thumb, Shor... OMIM:109400
Diastrophic Dysplasia
Cervical kyphosis, Spinal cord compression, Hypoplastic cervical vertebrae, Short finger, Kyphosc... OMIM:222600
Spondylocamptodactyly
Camptodactyly, Cervical platyspondyly, Scoliosis, Camptodactyly of finger OMIM:600000
Epiphyseal Dysplasia, Multiple, 7
Advanced ossification of carpal bones, Genu varum, Vertebral wedging, Platyspondyly, Flat acetabu... OMIM:617719
Brachyolmia Type 1, Toledo Type
Precocious costochondral ossification, Short neck, Intervertebral space narrowing, Back pain, Irr... OMIM:271630
Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant
Knee pain, Avascular necrosis of the capital femoral epiphysis, Short neck, Cervical subluxation,... OMIM:184100
Gorlin Syndrome
Vertebral wedging, Scoliosis, Vertebral fusion, Hemivertebrae ORPHA:377
Kniest-Like Dysplasia, Lethal
Coronal cleft vertebrae, Short neck, Hypoplastic vertebral bodies, Short ribs, Rhizomelia, Platys... OMIM:245190
Spondyloepimetaphyseal Dysplasia, Di Rocco Type
Irregular acetabular roof, Genu varum, Delayed ossification of carpal bones, Platyspondyly OMIM:617974
Spondyloepiphyseal Dysplasia, Maroteaux Type
Genu valgum, Platyspondyly OMIM:184095
Pallister-Hall-Like Syndrome
Short ribs, Micrognathia, Micromelia, Death in infancy, Hip dislocation OMIM:241800
Anus, Imperforate
Ectopic anus, Anal atresia OMIM:301800
Aarskog-Scott Syndrome
Short neck, Short palm, Abnormality of the cervical spine, Pectus excavatum, Genu recurvatum, Sma... ORPHA:915
Seckel Syndrome 4
11 pairs of ribs, Steep acetabular roof OMIM:613676
Frontometaphyseal Dysplasia
Limitation of knee mobility, Micrognathia, Scoliosis, Limitation of movement at ankles, Short dis... ORPHA:1826
Blomstrand Lethal Chondrodysplasia
Accelerated skeletal maturation, Short thorax, Increased bone mineral density, Short ribs, Short ... ORPHA:50945
Atelosteogenesis Type Ii
Cervical kyphosis, Rhizomelic arm shortening, Micrognathia, Micromelia, Narrow chest, Genu valgum... ORPHA:56304
Otopalatodigital Syndrome, Type Ii
Rudimentary fibula, Nonossified fifth metatarsal, Wormian bones, Delayed closure of the anterior ... OMIM:304120
White Forelock With Malformations
Spina bifida occulta ORPHA:2475
Cleidocranial Dysplasia
Absent paranasal sinuses, Micrognathia, Short middle phalanx of the 2nd finger, Scoliosis, Narrow... OMIM:119600
Spondyloepimetaphyseal Dysplasia, Irapa Type
Enlargement of the costochondral junction, Hypoplastic sacrum, Short palm, Short metacarpal, Uppe... OMIM:271650
Spondylocostal Dysostosis 6, Autosomal Recessive
Cervical kyphosis, Scoliosis, Spinal canal stenosis, Butterfly vertebrae, Hemivertebrae OMIM:616566
Disorder Of Sex Development-Intellectual Disability Syndrome
Spina bifida occulta, Kyphosis, Short neck ORPHA:2983
Pontine Tegmental Cap Dysplasia
Scoliosis, Hemivertebrae, Rib fusion, Ankle clonus OMIM:614688
Lateral Meningocele Syndrome
Wormian bones, Short neck, Kyphosis, Sclerosis of skull base, Micrognathia, Pectus excavatum, Joi... OMIM:130720
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Achilles tendon contracture, Kyphosis, Hyperlordosis, Scoliosis, Vertebral fusion OMIM:607155
Metaphyseal Dysostosis, Mental Retardation, And Conductive Deafness
Cupped ribs, Genu varum, Short palm, Irregular chondrocostal junctions, Short ribs, Joint laxity,... OMIM:250420
Spondylometaphyseal Dysplasia, X-Linked
Enlarged joints, Kyphosis, Thoracolumbar scoliosis, Sclerosis of skull base, Platyspondyly, Knee ... OMIM:313420
Anal Sphincter Myopathy, Internal
Abnormality of the anus OMIM:105565
Pyknoachondrogenesis
Abnormal intramembranous ossification, Horizontal ribs, Short thorax, Short ribs, Craniofacial hy... ORPHA:3003
Alkaptonuria
Limitation of knee mobility, Kyphosis, Intervertebral disc degeneration, Low back pain, Vertebral... OMIM:203500
Coxopodopatellar Syndrome
Abnormality of pelvic girdle bone morphology, Aplasia/Hypoplasia of the patella, Hip dysplasia, A... ORPHA:1509
Lymphatic Malformation 11
Lymphedema, Pedal edema OMIM:619401
Schneckenbecken Dysplasia
Accelerated skeletal maturation, Short neck, Abnormal form of the vertebral bodies, Hypoplastic v... ORPHA:3144
Meier-Gorlin Syndrome 1
Absent sternal ossification, Genu varum, Micrognathia, Abnormal rib cage morphology, Small hand, ... OMIM:224690
Brachyolmia Type 2
Platyspondyly OMIM:613678
Congenital Disorder Of Glycosylation, Type Ig
Short ribs, Rhizomelia, Hypoplasia of the radius, Short humerus, Short tibia, Butterfly vertebrae... OMIM:607143
Lowe-Kohn-Cohen Syndrome
Anal atresia, Anorectal anomaly ORPHA:2408
Pelvis-Shoulder Dysplasia
Abnormal form of the vertebral bodies, Aplasia/Hypoplasia of the fibula, Prominent protruding coc... ORPHA:2839
Fountain Syndrome
Kyphosis, Abnormal form of the vertebral bodies, Short distal phalanx of finger, Spina bifida, Sc... ORPHA:3219
Dyssegmental Dysplasia, Rolland-Desbuquois Type
Advanced ossification of carpal bones, Short neck, Short ribs, Micrognathia, Micromelia, Narrow c... OMIM:224400
Thrombocytopenia-Absent Radius Syndrome
Carpal bone hypoplasia, Genu varum, Carpal synostosis, Cervical ribs, Bilateral radial aplasia, P... OMIM:274000
Poland Syndrome
Aplasia/Hypoplasia of the sternum, Missing ribs, Short neck, Kyphosis, Finger symphalangism, Asym... ORPHA:2911
Progressive Pseudorheumatoid Arthropathy Of Childhood
Genu varum, Generalized osteoporosis, Irregularity of vertebral bodies, Wrist swelling, Abnormali... ORPHA:1159
Holoprosencephaly, Semilobar, With Craniosynostosis
Semilobar holoprosencephaly, Short distal phalanx of finger, Hypoplastic vertebral bodies OMIM:601370
Cooper-Jabs Syndrome
Missing ribs, Abnormal rib morphology, Scoliosis, Reduced bone mineral density, Camptodactyly of ... ORPHA:1488
Dyssegmental Dysplasia, Silverman-Handmaker Type
Short neck, Flexion contracture, Pterygium, Short ribs, Micrognathia, Miscarriage, Micromelia, An... ORPHA:1865
Classical-Like Ehlers-Danlos Syndrome Type 1
Spina bifida occulta ORPHA:230839
Lethal Congenital Contracture Syndrome 1
Widening of cervical spinal canal, Abnormal thorax morphology, Micrognathia, Arthrogryposis multi... OMIM:253310
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3
Carpal bone hypoplasia, Hypoplasia of the ulna, Short neck, Short femoral neck, Dislocated radial... OMIM:618395
Cdags Syndrome
Lambdoidal craniosynostosis, Kyphosis, Coronal craniosynostosis, Short ribs, Delayed cranial sutu... OMIM:603116
Spondyloepiphyseal Dysplasia, Kimberley Type
Osteoarthritis, Short thorax, Platyspondyly ORPHA:93283
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2
Vertebral segmentation defect, Short neck, Abnormal rib morphology ORPHA:2578
Osteogenesis Imperfecta, Type Xv
Recurrent fractures, Thin ribs, Platyspondyly, Joint hypermobility, Scoliosis, Bowing of limbs du... OMIM:615220
Pyle Disease
Abnormal thorax morphology, Platyspondyly, Limited elbow extension, Scoliosis, Reduced bone miner... OMIM:265900
Prieto Syndrome
11 pairs of ribs, Patellar dislocation, Osteoporosis, Patellar subluxation OMIM:309610
Lethal Congenital Contracture Syndrome Type 1
Short neck, Recurrent fractures, Abnormal form of the vertebral bodies, Limitation of joint mobil... ORPHA:1486
Pseudoachondroplasia
Genu varum, Generalized joint laxity, Scoliosis, Irregular carpal bones, Increased laxity of ankl... ORPHA:750
Autosomal Recessive Multiple Pterygium Syndrome
Pterygium, Popliteal pterygium, Limitation of joint mobility, Micrognathia, Pectus excavatum, Ant... ORPHA:2990
Diaphanospondylodysostosis
Missing ribs, Short neck, Tracheomalacia, Lumbosacral meningocele, Micrognathia, Absent in utero ... OMIM:608022
Caudal Regression Syndrome
Missing ribs, Joint stiffness, Hypoplastic vertebral bodies, Scoliosis, Abnormal vertebral segmen... ORPHA:3027
Robinow Syndrome, Autosomal Recessive 1
Missing ribs, Hypoplastic sacrum, Short neck, Short palm, Thoracolumbar scoliosis, Aplasia/Hypopl... OMIM:268310
Arnold-Chiari Malformation Type I
Cervical C2/C3 vertebral fusion, Scoliosis, Fused cervical vertebrae, Stiff neck, Anteriorly plac... ORPHA:268882
Thoracopelvic Dysostosis
Short ribs OMIM:187770
Proximal 16P11.2 Microdeletion Syndrome
Craniosynostosis, Abnormal vertebral morphology, Micrognathia, Scoliosis, Rib fusion ORPHA:261197
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type
Atlantoaxial instability, Anterior rib cupping, Posterior rib cupping, Progressive calcification ... OMIM:271665
Fibrodysplasia Ossificans Progressiva
Ectopic ossification in ligament tissue, Short hallux, Abnormal vertebral morphology, Ectopic oss... ORPHA:337
Mayer-Rokitansky-Küster-Hauser Syndrome
Abnormal sacrum morphology, Vertebral segmentation defect, Vertebral fusion, Abnormal form of the... ORPHA:3109
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
Short 5th metacarpal, 11 pairs of ribs, Spondylolisthesis, Short toe, Spina bifida occulta OMIM:617877
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia
Spina bifida occulta OMIM:618060
Anus, Imperforate
Anal atresia OMIM:207500
Microphthalmia, Syndromic 3
Missing ribs, Vertebral hypoplasia, Supernumerary ribs, Vertebral fusion, Butterfly vertebrae, He... OMIM:206900
Osteogenesis Imperfecta, Type Xvi
Osteopenia, Vertebral compression fracture, Rhizomelia, Joint hypermobility, Beaded ribs, Mesomelia OMIM:616229
Spondylometaphyseal Dysplasia, Axial
Anterior rib cupping, Short femoral neck, Rhizomelia, Platyspondyly, Thoracic hypoplasia OMIM:602271
Osteogenesis Imperfecta, Type V
Hyperextensibility at elbow, Wormian bones, Osteopenia, Recurrent fractures, Vertebral wedging, A... OMIM:610967
Morquio Syndrome C
Platyspondyly OMIM:252300
Spondyloepiphyseal Dysplasia Tarda
Knee pain, Scoliosis, Decreased cervical spine mobility, Limb pain, Abnormal shoulder morphology,... ORPHA:93284
Pseudodiastrophic Dysplasia
Scoliosis, Elbow dislocation, Platyspondyly, Phalangeal dislocation ORPHA:85174
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome
Short neck, Abnormality of the humeroulnar joint, Abnormal form of the vertebral bodies, Abnormal... ORPHA:2234
Short Rib-Polydactyly Syndrome
Horizontal ribs, Absent or minimally ossified vertebral bodies, Disproportionate shortening of th... ORPHA:1505
Spondyloepimetaphyseal Dysplasia, Handigodu Type
Knee pain, Abnormality of the vertebral column, Hip osteoarthritis, Platyspondyly, Protrusio acet... ORPHA:99642
Czeizel-Losonci Syndrome
Myelomeningocele, Thoracolumbar scoliosis, Micrognathia, Spina bifida, Hydrocephalus, Spina bifid... ORPHA:2437
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Short ribs, Thoracic dysplasia, Lateral clavicle hook, Bell-shaped thorax, Thoracic hypoplasia, G... OMIM:615630
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Short neck, Rhizomelia, Decreased skull ossification, Abnormal clavicle morphology, Abnormal rib ... ORPHA:93267
Femoral-Facial Syndrome
Missing ribs, Absent vertebra, Dysplastic sacrum, Micrognathia, Aplasia/hypoplasia of the femur, ... OMIM:134780
Vertebral Hypersegmentation And Orofacial Anomalies
Supernumerary ribs, Micrognathia, Joint hypermobility, Pectus excavatum, Scapular winging, Six lu... OMIM:619122
Osteogenesis Imperfecta, Type Xiii
Wormian bones, Increased bone mineral density, Dislocated radial head, Osteoporosis, Platyspondyl... OMIM:614856
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Shoulder subluxation, Thoracic scoliosis, Thoracic kyphosis, Short neck, Short palm, Cervical hem... ORPHA:508498
Thakker-Donnai Syndrome
Cervical C2/C3 vertebral fusion, Short neck, Hemivertebrae ORPHA:1780
Neurogenic Thoracic Outlet Syndrome
Abnormal rib morphology ORPHA:100073
Spondylocarpotarsal Synostosis Syndrome
Carpal synostosis, Block vertebrae, Short neck, Scapular winging, Short metacarpal, Hypoplasia of... OMIM:272460
Becker Nevus Syndrome
Scoliosis, Cervical ribs, Hemivertebrae, Pectus excavatum OMIM:604919
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Cupped ribs, Delayed ossification of carpal bones, Beaking of vertebral bodies, Platyspondyly, Lu... OMIM:609616
Leg, Absence Deformity Of, With Congenital Cataract
Duplication involving bones of the feet, Anal atresia OMIM:246000
Sillence Syndrome
Intervertebral disc degeneration, Aplasia of the middle phalanx of the hand, Abnormal vertebral m... ORPHA:3168
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Superior rib anomalies, Abnormality of the cervical spine OMIM:307500
Diastrophic Dysplasia
Kyphosis, Abnormal form of the vertebral bodies, Increased bone mineral density, Joint stiffness,... ORPHA:628
Dyssegmental Dysplasia, Silverman-Handmaker Type
Thoracic hypoplasia, Anisospondyly, Neonatal death, Micrognathia OMIM:224410
Aicardi Syndrome
Block vertebrae, Missing ribs, Supernumerary ribs, Bifid ribs, Scoliosis, Small hand, Butterfly v... ORPHA:50
Noonan Syndrome 12
11 pairs of ribs, Spinal canal stenosis, Pectus excavatum OMIM:618624
Duane-Radial Ray Syndrome
Absent thumb, Hypoplasia of the ulna, Absent radius, Short thumb, Hypoplasia of the radius, Scoli... OMIM:607323
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type
Genu varum, Scoliosis, Platyspondyly OMIM:618728
Spondyloepimetaphyseal Dysplasia With Joint Laxity
Radioulnar dislocation, Dislocated radial head, Joint laxity, Beaking of vertebral bodies, Increa... ORPHA:93359
Cog1-Cdg
Irregularity of vertebral bodies, Short neck, Osteopenia, Rhizomelia, Micrognathia, Flat acetabul... ORPHA:263508
Axial Mesodermal Dysplasia Spectrum
Missing ribs, Short neck, Abnormal form of the vertebral bodies, Abnormal rib morphology, Microgn... ORPHA:1834
Epiphyseal Dysplasia, Multiple, With Severe Proximal Femoral Dysplasia
Genu valgum, Irregularity of vertebral bodies, Platyspondyly OMIM:609324
Renal Dysplasia-Limb Defects Syndrome
Short neck, Phocomelia, Short sternum, Short ribs, Thin ribs, Short metacarpal, Hypoplasia of the... OMIM:266910
Spinocerebellar Ataxia-Dysmorphism Syndrome
Spina bifida occulta ORPHA:1185
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Short ribs, Craniosynostosis, Short femoral neck OMIM:266920
Spondyloepiphyseal Dysplasia Congenita
Limitation of knee mobility, Atlantoaxial instability, Short neck, Ovoid vertebral bodies, Kyphos... OMIM:183900
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type
Ovoid vertebral bodies, Posterior rib cupping, Platyspondyly, Limited elbow extension, Lumbar hyp... OMIM:608728
Caudal Duplication
Abnormal sacrum morphology, Myelomeningocele, Spina bifida, Bifid sacrum, Vertebral segmentation ... ORPHA:1756
Richieri-Costa/Guion-Almeida Syndrome
Spina bifida occulta OMIM:268850
Hypochondroplasia
Brachydactyly, Genu varum, Abnormality of pelvic girdle bone morphology, Flared metaphysis, Short... OMIM:146000
Mucopolysaccharidosis, Type Iva
Ovoid vertebral bodies, Kyphosis, Cervical subluxation, Hypoplasia of the odontoid process, Large... OMIM:253000
Brachytelephalangic Chondrodysplasia Punctata
Abnormality of the vertebral column, Cervical kyphosis, Vertebral hypoplasia, Coronal cleft verte... ORPHA:79345
Familial Osteodysplasia, Anderson Type
Missing ribs, Kyphosis, Abnormal form of the vertebral bodies, Recurrent fractures, Aplastic clav... ORPHA:2769
Spondyloepiphyseal Dysplasia Tarda, X-Linked
Kyphosis, Short neck, Hip osteoarthritis, Shield chest, Platyspondyly, Barrel-shaped chest, Lumba... OMIM:313400
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Horizontal ribs, Decreased calvarial ossification, Short neck, Fibular hypoplasia, Short ribs, La... OMIM:617925
Fanconi Anemia, Complementation Group R
Anal atresia OMIM:617244
Ritscher-Schinzel Syndrome 1
Missing ribs, Hemivertebrae, Micrognathia OMIM:220210
Juberg-Hayward Syndrome
Short thumb, Abnormal vertebral morphology, Abnormal rib morphology, Hypoplasia of the radius, Ra... ORPHA:2319
Osteogenesis Imperfecta, Type Iii
Decreased calvarial ossification, Wormian bones, Kyphosis, Recurrent fractures, Multiple prenatal... OMIM:259420
Townes-Brocks Syndrome 2
Spina bifida occulta, Scoliosis OMIM:617466
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Small cervical vertebral bodies, Cervical spinal canal stenosis, Short ribs, Rhizomelic arm short... ORPHA:397715
Craniofacial Dysmorphism, Skeletal Anomalies, And Mental Retardation Syndrome
Craniosynostosis, Short neck, Sacral dimple, Beaking of vertebral bodies, Micrognathia, Joint hyp... OMIM:213980
Spondylometaphyseal Dysplasia, Sedaghatian Type
Cupped ribs, Short neck, Short ribs, 11 pairs of ribs, Short metacarpal, Rhizomelia, Platyspondyl... OMIM:250220
Microcephalic Osteodysplastic Dysplasia, Saul-Wilson Type
Irregularity of vertebral bodies, Short palm, Hypoplasia of the odontoid process, Platyspondyly, ... ORPHA:85172
Nail-Patella Syndrome
Thickening of the lateral border of the scapula, Patellar hypoplasia, Back pain, Pectus excavatum... OMIM:161200
Frontometaphyseal Dysplasia 2
Dislocated radial head, Short metacarpal, Congenital hip dislocation, Pectus excavatum, Scoliosis... OMIM:617137
Otopalatodigital Syndrome Type 2
Synostosis of carpal bones, Carpal synostosis, Hypoplastic frontal sinuses, Increased bone minera... ORPHA:90652
Aicardi Syndrome
Missing ribs, Block vertebrae, Supernumerary ribs, Bifid ribs, Scoliosis, Butterfly vertebrae, He... OMIM:304050
Osteogenesis Imperfecta, Type Xviii
Generalized osteoporosis, Wormian bones, Vertebral compression fracture, Recurrent fractures, Thi... OMIM:617952
Ghosal Hematodiaphyseal Dysplasia
Bowing of the long bones, Abnormality of pelvic girdle bone morphology, Diaphyseal thickening, Ab... ORPHA:1802
Metaphyseal Dysplasia Without Hypotrichosis
Genu varum, Metaphyseal irregularity, Abnormality of pelvic girdle bone morphology, Short long bo... OMIM:250460
Apert Syndrome
Synostosis of carpal bones, Lambdoidal craniosynostosis, Craniosynostosis, Coronal craniosynostos... OMIM:101200
Gm1-Gangliosidosis, Type Iii
Kyphosis, Anterior beaking of lumbar vertebrae, Hypoplastic acetabulae, Platyspondyly, Scoliosis OMIM:230650
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Horizontal ribs, Hypoplasia of the ulna, Fibular hypoplasia, Short ribs, Lateral clavicle hook, A... OMIM:613091
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Horizontal ribs, Short ribs, Lateral clavicle hook, Hypoplasia of the radius, Micromelia, Thoraci... OMIM:617895
Baller-Gerold Syndrome
Lambdoidal craniosynostosis, Carpal synostosis, Hypoplasia of the ulna, Patellar hypoplasia, Coro... OMIM:218600
Smith-Mccort Dysplasia 1
Genu varum, Atlantoaxial instability, Kyphosis, Hypoplastic acetabulae, Hypoplasia of the odontoi... OMIM:607326
Mucopolysaccharidosis, Type Ivb
Ovoid vertebral bodies, Kyphosis, Cervical subluxation, Hypoplasia of the odontoid process, Joint... OMIM:253010
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive
Osteoarthritis, Hip osteoarthritis, Platyspondyly OMIM:271600
Alagille Syndrome
Hypoplasia of the ulna, Abnormal form of the vertebral bodies, Micrognathia, Short distal phalanx... ORPHA:52
Weaver Syndrome
Accelerated skeletal maturation, Kyphosis, Short ribs, Limited knee extension, Limited elbow exte... OMIM:277590
Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes
Irregular vertebral endplates, Kyphoscoliosis, Platyspondyly, Lumbar scoliosis OMIM:612847
Gurrieri Syndrome
Decreased anterioposterior diameter of lumbar vertebral bodies OMIM:601187
Acrocraniofacial Dysostosis
Abnormal form of the vertebral bodies, Micrognathia, Short distal phalanx of finger, Short 1st me... ORPHA:949
Apert Syndrome
Micromelia, Vertebral segmentation defect, Cervical C5/C6 vertebrae fusion, Aplasia/Hypoplasia of... ORPHA:87
Spondylometaphyseal Dysplasia, Kozlowski Type
Enlarged joints, Short neck, Delayed ossification of carpal bones, Irregular acetabular roof, Hyp... OMIM:184252
Koolen-De Vries Syndrome
Kyphosis, Pectus excavatum, Scoliosis, Hip dislocation, Vertebral fusion, Vertebral segmentation ... ORPHA:96169
Anauxetic Dysplasia 1
Cervical subluxation, Delayed ossification of carpal bones, Short neck, Platyspondyly OMIM:607095
Achondrogenesis Type 1B
Short neck, Short thorax, Abnormal enchondral ossification, Abnormal rib morphology, Micrognathia... ORPHA:93298
Bnar Syndrome
Anteriorly placed anus, Abnormality of the 5th toe, Anal stenosis ORPHA:217266
Congenital Disorder Of Glycosylation, Type Iig
Short neck, Osteopenia, Rhizomelia, Abnormal rib morphology, Micrognathia, Scoliosis, Small hand,... OMIM:611209
Grant Syndrome
Wormian bones, Joint dislocation, Decreased skull ossification, Abnormal rib morphology, Microgna... ORPHA:2097
Spondyloepimetaphyseal Dysplasia, Strudwick Type
Anterior rib cupping, Delayed pubic bone ossification, Hypoplasia of the odontoid process, Hyperl... OMIM:184250
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Horizontal ribs, Disproportionate shortening of the tibia, Short ribs, Lateral clavicle hook, Tho... OMIM:263520
Atelosteogenesis, Type Ii
Coronal cleft vertebrae, Cervical kyphosis, Short neck, Platyspondyly, Horizontal sacrum, Lumbar ... OMIM:256050
Progressive Pseudorheumatoid Dysplasia
Genu varum, Joint stiffness, Camptodactyly of finger, Osteoporosis, Osteoarthritis, Platyspondyly... OMIM:208230
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Kyphosis, Osteoporosis, Platyspondyly ORPHA:2786
Short-Rib Thoracic Dysplasia 12
Horizontal ribs, Short neck, Short thorax, Short palm, Short ribs, Thoracic dysplasia, Hypoplasti... OMIM:269860
Osteogenesis Imperfecta, Type Ii
Wormian bones, Recurrent fractures, Multiple prenatal fractures, Thin ribs, Absent ossification o... OMIM:166210
Short Stature-Deafness-Neutrophil Dysfunction-Dysmorphism Syndrome
Ectopic anus ORPHA:2866
Larsen Syndrome
Cervical kyphosis, Short metacarpal, Spondylolysis, Spinal cord compression, Beaking of vertebral... OMIM:150250
Melnick-Needles Syndrome
Short thorax, Craniofacial hyperostosis, Abnormal rib morphology, Micrognathia, Anisospondyly, Sc... ORPHA:2484
Osteogenesis Imperfecta, Type Xxi
Wormian bones, Recurrent fractures, Osteoporosis, Platyspondyly, Pectus excavatum, Barrel-shaped ... OMIM:619131
Multiple Epiphyseal Dysplasia, Beighton Type
Knee pain, Thoracic scoliosis, Joint stiffness, Lumbar platyspondyly, Intervertebral space narrow... ORPHA:166011
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome
Joint stiffness, Avascular necrosis, Osteoarthritis, Platyspondyly, Abnormal intervertebral disk ... ORPHA:1345
Achondrogenesis Type 1A
Short neck, Short thorax, Abnormal enchondral ossification, Recurrent fractures, Short palm, Micr... ORPHA:93299
Thanatophoric Dysplasia Type 2
Kyphosis, Short thorax, Joint hyperflexibility, Platyspondyly, Hydrocephalus, Narrow chest, Holop... ORPHA:93274
Mosaic Trisomy 14
Short neck, Camptodactyly of finger, Abnormal rib morphology, Micrognathia, Narrow chest ORPHA:1703
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Abnormal form of the vertebral bodies, Abnormal rib morphology, Scoliosis, Sprengel anomaly, Hemi... ORPHA:2180
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome
Abnormal rib morphology ORPHA:2435
Mucopolysaccharidosis Type 4
Short neck, Kyphosis, Short thorax, Hyperlordosis, Joint dislocation, Platyspondyly, Abnormal rib... ORPHA:582
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
11 pairs of ribs, Hemivertebrae, Abnormal vertebral morphology ORPHA:77298
Acrofacial Dysostosis, Catania Type
Spina bifida occulta, Microretrognathia, Short palm, Small hand ORPHA:1786
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Short ribs, Thoracic dysplasia, Hypoplastic scapulae, Micromelia, Short distal phalanx of finger,... OMIM:614091
Metaphyseal Chondrodysplasia, Jansen Type
Osteopenia, Short ribs, Micrognathia, Knee flexion contracture, Hip contracture, Pathologic fracture OMIM:156400
Osteopathia Striata-Cranial Sclerosis Syndrome
Spina bifida occulta, Scoliosis, Hyperlordosis, Micrognathia ORPHA:2780
Bruck Syndrome 2
Wormian bones, Osteopenia, Pterygium, Flexion contracture, Increased susceptibility to fractures,... OMIM:609220
Steinfeld Syndrome
Abnormality of the vertebral column, Missing ribs, Hypoplasia of the ulna, Phocomelia, Aplasia/Hy... OMIM:184705
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Micrognathia, Abnormality of the costochondral junction, Scoliosis, Short tibia, Short 1st metaca... ORPHA:96334
Septopreoptic Holoprosencephaly
Abnormal vertebral morphology, Abnormal rib morphology ORPHA:280195
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly
Osteoporosis of vertebrae, Platyspondyly, Multiple small vertebral fractures OMIM:156510
Holt-Oram Syndrome
Absent thumb, Kyphosis, Joint stiffness, Phocomelia, Abnormal clavicle morphology, Down-sloping s... ORPHA:392
Campomelic Dysplasia
Kyphosis, Short neck, Tracheomalacia, Poorly ossified cervical vertebrae, Recurrent fractures, 11... ORPHA:140
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Cupped ribs, Ovoid vertebral bodies, Joint stiffness, Short metacarpal, Rhizomelia, Platyspondyly... OMIM:608940
Thoracic Dysplasia-Hydrocephalus Syndrome
Short ribs, Narrow chest, Thoracic dysplasia, Limb undergrowth OMIM:273730
Arthrogryposis, Distal, Type 2A
Spina bifida occulta, Kyphoscoliosis, Scoliosis, Short neck OMIM:193700
3Mc Syndrome
Caudal appendage, Hyperlordosis, Scoliosis, Spina bifida occulta, Umbilical hernia, Prominent coccyx ORPHA:293843
Camptodactyly Syndrome, Guadalajara, Type I
Wormian bones, Sacral dimple, Short palm, Short femoral neck, Fibular hypoplasia, Short foot, Hor... OMIM:211910
Frontal Encephalocele
Spina bifida, Encephalocele, Hydrocephalus ORPHA:1931
Osteogenesis Imperfecta With Opalescent Teeth, Blue Sclerae And Wormian Bones, But Without Fractures
Moderate generalized osteoporosis, Wormian bones, Abnormal joint morphology, Biconcave flattened ... OMIM:166230
Ellis-Van Creveld Syndrome
Horizontal ribs, Short ribs, Acetabular spurs, Pectus carinatum, Narrow chest, Capitate-hamate fu... OMIM:225500
Pseudodiastrophic Dysplasia
Short neck, Hypoplasia of the odontoid process, Elbow dislocation, Platyspondyly, Tongue-like lum... OMIM:264180
Pallister-Hall Syndrome
Radial head subluxation, Short 4th metacarpal, Mesomelia, Distal shortening of limbs, Neonatal de... OMIM:146510
Autosomal Recessive Robinow Syndrome
Synostosis of carpal bones, Kyphosis, Short neck, Sacral dimple, Elbow dislocation, Micrognathia,... ORPHA:1507
Robinow Syndrome
Acromesomelia, Missing ribs, Radioulnar dislocation, Micrognathia, Mesomelia, Fused thoracic vert... ORPHA:97360
Pseudoachondroplasia
Genu varum, Scoliosis, Irregular carpal bones, Genu valgum, Spatulate ribs, Atlantoaxial dislocat... OMIM:177170
Spondylometaphyseal Dysplasia, Kozlowski Type
Abnormality of the vertebral column, Coronal cleft vertebrae, Genu varum, Scoliosis, Thoracic kyp... ORPHA:93314
Acrorenal-Mandibular Syndrome
Rudimentary fibula, Missing ribs, Hypoplasia of the ulna, Elbow flexion contracture, Rudimentary ... OMIM:200980
Sirenomelia
Absence of the sacrum, Spina bifida, Aplasia/Hypoplasia of the radius, Sirenomelia ORPHA:3169
Carpenter Syndrome 1
Aplasia/Hypoplasia of the middle phalanges of the toes, Short neck, Sacral dimple, Micrognathia, ... OMIM:201000
Tetraamelia-Multiple Malformations Syndrome
Missing ribs, Tetraamelia, Micrognathia, Abnormal rib morphology, Abnormally ossified vertebrae ORPHA:3301
Wolf-Hirschhorn Syndrome
Abnormality of the vertebral column, Kyphosis, Abnormal form of the vertebral bodies, Sacral dimp... ORPHA:280
Faciodigitogenital Syndrome, Autosomal Recessive
Hyperextensible hand joints, Down-sloping shoulders, Pectus excavatum, Abnormal rib cage morpholo... OMIM:227330
Spondyloepimetaphyseal Dysplasia, Shohat Type
Short neck, Vertebral compression fracture, Narrow vertebral interpedicular distance, Abnormal ve... ORPHA:93352
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Cleft vertebral arch, Coronal craniosynostosis, Contracture of the distal interphalangeal joint o... ORPHA:83617
Kniest-Like Dysplasia With Pursed Lips And Ectopia Lentis
Absent ossification of capital femoral epiphysis, Cervical kyphosis, Short neck, Flexion contract... OMIM:245160
Limb Body Wall Complex
Short umbilical cord, Abnormality of the vertebral column, Progressive congenital scoliosis, Myel... ORPHA:2369
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Wormian bones, Osteopenia, Increased bone mineral density, Micrognathia, Thin bony cortex, Wide a... ORPHA:85184
Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant
Premature osteoarthritis, Platyspondyly OMIM:184840
Laryngotracheoesophageal Cleft Type 4
Abnormal form of the vertebral bodies, Abnormal rib morphology ORPHA:93941
Shprintzen-Goldberg Syndrome
Missing ribs, Craniosynostosis, Abnormal form of the vertebral bodies, Camptodactyly of finger, O... ORPHA:2462
3C Syndrome
Missing ribs, Short neck, Kyphosis, Micrognathia, Scoliosis, Death in infancy, Hemivertebrae ORPHA:7
Dyggve-Melchior-Clausen Disease
Abnormality of the vertebral column, Atlantoaxial instability, Short neck, Short thorax, Rhizomel... ORPHA:239
Gm1-Gangliosidosis, Type Ii
Platyspondyly OMIM:230600
Orofaciodigital Syndrome Xi
Kyphoscoliosis, Hypoplasia of the odontoid process OMIM:612913
Acrofacial Dysostosis 1, Nager Type
Absent thumb, Abnormality of the cervical spine, Absent radius, Aplasia/Hypoplasia of the thumb, ... OMIM:154400
Pulmonary Edema Of Mountaineers, Susceptibility To
Edema, Pulmonary edema OMIM:178400
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Shoulder dislocation, Generalized osteoporosis, 11 pairs of ribs, Bilateral elbow dislocations, O... OMIM:245600
Bruck Syndrome
Wormian bones, Kyphosis, Pterygium, Joint stiffness, Recurrent fractures, Osteoporosis, Platyspon... ORPHA:2771
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Short neck, Short ribs, Aplastic clavicle, Micromelia, Narrow chest OMIM:616546
Van Esch-O'Driscoll Syndrome
Spina bifida occulta, Scoliosis OMIM:301030
Cole-Carpenter Syndrome
Wormian bones, Kyphosis, Recurrent fractures, Abnormal form of the vertebral bodies, Abnormal rib... ORPHA:2050
Brachyolmia Type 3
Kyphosis, Short neck, Platyspondyly, Barrel-shaped chest, Scoliosis OMIM:113500
Geroderma Osteodysplastica
Abnormal form of the vertebral bodies, Vertebral compression fracture, Recurrent fractures, Beaki... ORPHA:2078
Osteogenesis Imperfecta, Type Viii
Decreased calvarial ossification, Wormian bones, Kyphosis, Vertebral compression fracture, Multip... OMIM:610915
Squamous Cell Carcinoma Of The Anal Canal
Anal stenosis, Neoplasm of the rectum, Neoplasm of the liver, Rectal prolapse, Anal canal squamou... ORPHA:424019
Spondyloepimetaphyseal Dysplasia, Missouri Type
Genu varum, Rhizomelia, Osteoarthritis, Pear-shaped vertebrae, Platyspondyly, Limited elbow exten... OMIM:602111
Heyn-Sproul-Jackson Syndrome
Short metacarpal, 11 pairs of ribs OMIM:618724
Postaxial Acrofacial Dysostosis
Hypoplasia of the ulna, Supernumerary vertebrae, Congenital hip dislocation, Short thumb, Hypopla... OMIM:263750
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Brachydactyly, Abnormality of pelvic girdle bone morphology, Clinodactyly of the 5th finger, Abno... ORPHA:2370
Cole-Carpenter Syndrome 2
Lambdoidal craniosynostosis, Wormian bones, Osteopenia, Kyphosis, Coronal craniosynostosis, Thin ... OMIM:616294
Meier-Gorlin Syndrome 3
Absent sternal ossification, Genu varum, Short thorax, Tracheomalacia, Patellar hypoplasia, Short... OMIM:613803
Ophthalmoplegia, External, And Myopia
Spina bifida OMIM:311000
Distal Monosomy 10Q
Spina bifida occulta, Lumbar hyperlordosis, Short metatarsal, Micrognathia ORPHA:96148
Lymphangiectasia, Intestinal
Pedal edema, Stillbirth, Edema OMIM:152800
Cleidocranial Dysplasia
Abnormal sacrum morphology, Hypoplastic scapulae, Micrognathia, Scoliosis, Spina bifida occulta, ... ORPHA:1452
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
Cupped ribs, Carpal synostosis, Radial head subluxation, 11 pairs of ribs, Osteoporosis, Microgna... OMIM:271640
Phaver Syndrome
Joint stiffness, Abnormal form of the vertebral bodies, Pterygium, Short thumb, Abnormal rib morp... ORPHA:2876
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Horizontal ribs, Short ribs, Rhizomelia, Flat acetabular roof, Microretrognathia, Unicoronal syno... OMIM:616300
Hall-Riggs Mental Retardation Syndrome
Kyphosis, Osteoporosis, Platyspondyly, Scoliosis, Irregular vertebral endplates, Delayed skeletal... OMIM:234250
Seckel Syndrome 8
Kyphoscoliosis, Spinal cord compression, Micrognathia OMIM:615807
Ulbright-Hodes Syndrome
Ovoid thoracolumbar vertebrae, Short neck, Phocomelia, Short sternum, Short ribs, Thin ribs, Shor... ORPHA:3404
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction
11 pairs of ribs, Hyperextensibility of the finger joints OMIM:618356
Osteogenesis Imperfecta, Type X
Osteopenia, Vertebral compression fracture, Thin ribs, Joint laxity, Generalized joint laxity, Pl... OMIM:613848
Dental Anomalies And Short Stature
Herniation of intervertebral nuclei, Intervertebral space narrowing, Narrow vertebral interpedicu... OMIM:601216
Fryns Microphthalmia Syndrome
Neural tube defect, Abnormality of the vertebral column OMIM:600776
Eye Defects-Arachnodactyly-Cardiopathy Syndrome
Bowing of the long bones, Abnormal hip bone morphology, Abnormal distal phalanx morphology of fin... ORPHA:2725
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations
Spina bifida occulta OMIM:300707
Chilblain Lupus 2
Edema OMIM:614415
Fanconi Anemia, Complementation Group O
Absent thumb, Hypoplasia of the radius, Short thumb, Anal atresia, Rectal atresia OMIM:613390
Spondylometaphyseal Dysplasia, Schmidt Type
Abnormality of the vertebral column, Irregular acetabular roof, Platyspondyly, Scoliosis, Abnorma... ORPHA:93316
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy
Wormian bones, Anterior rib cupping, Thoracic kyphosis, Short neck, Flexion contracture, Short fe... OMIM:300232
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly
Short ribs, Thoracic dysplasia, Lateral clavicle hook, Acetabular spurs, Narrow chest OMIM:615503
Dyggve-Melchior-Clausen Disease
Genu varum, Rhizomelic arm shortening, Scoliosis, Genu valgum, Thoracic kyphosis, Short neck, Mul... OMIM:223800
Mucopolysaccharidosis, Type X
Posterior scalloping of vertebral bodies, Spatulate ribs, Irregular acetabular roof, Beaking of v... OMIM:619698
Mucopolysaccharidosis, Type Iiia
Ovoid thoracolumbar vertebrae, Joint stiffness, Dense calvaria, Scoliosis, Thickened ribs OMIM:252900
Cenani-Lenz Syndrome
Synostosis of carpal bones, Hypoplasia of the ulna, Abnormal form of the vertebral bodies, Short ... ORPHA:3258
Koolen-De Vries Syndrome
Kyphosis, Sacral dimple, Pectus excavatum, Joint hypermobility, Spondylolisthesis, Scoliosis, Ver... OMIM:610443
Thanatophoric Dysplasia
Kyphosis, Short thorax, Joint stiffness, Platyspondyly, Abnormal sacroiliac joint morphology, Hyd... ORPHA:2655
3M Syndrome
Horizontal ribs, Hypoplasia of the ulna, Kyphosis, Short neck, Short thorax, Increased vertebral ... ORPHA:2616
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies
Micrognathia, Joint hypermobility, Abnormal rib morphology, Pectus excavatum, Hypoplastic distal ... OMIM:602196
Lymphatic Malformation 2
Lymphedema OMIM:611944
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Short palm, Rhizomelia, Thin ribs, Platyspondyly, Micrognathia, Death in infancy, Short foot ORPHA:163966
Patterson Pseudoleprechaunism Syndrome
Ovoid thoracolumbar vertebrae, Small cervical vertebral bodies, Cervical platyspondyly, Hypoplasi... OMIM:169170
Zttk Syndrome
Cervical ribs, Kyphosis, Flexion contracture, Craniosynostosis, Joint hypermobility, Scoliosis, S... OMIM:617140
Spondyloepiphyseal Dysplasia, Myopia, And Sensorineural Deafness
Lumbar hyperlordosis, Short neck, Platyspondyly OMIM:184000
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Short ribs, Abnormal sternum morphology, Broad ribs, Abnormal rib morphology ORPHA:2519
Acalvaria
Holoprosencephaly, Spina bifida, Hydrocephalus ORPHA:945
Schinzel-Giedion Midface Retraction Syndrome
Wormian bones, Metopic suture patent to nasal root, Short neck, Short sternum, Thickened cortex o... OMIM:269150
Cat-Eye Syndrome
Hip dysplasia, Anal atresia ORPHA:195
Hirschsprung Disease With Hypoplastic Nails And Dysmorphic Facial Features
Aganglionic megacolon, Anal atresia OMIM:235760
Thoraco-Abdominal Enteric Duplication
Camptodactyly of finger, Missing ribs ORPHA:1759
Osteogenesis Imperfecta, Type Vii
Decreased calvarial ossification, Wormian bones, Osteopenia, Vertebral compression fracture, Mult... OMIM:610682
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Short palm, Scoliosis, Small hand, Spina bifida occulta, Umbilical hernia, Short foot OMIM:235510
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Lower limb undergrowth, Abnormal rib morphology, Abnormally ossified vertebrae, Micrognathia ORPHA:3035
Richieri Costa-Da Silva Syndrome
Kyphoscoliosis, Decreased anterioposterior diameter of lumbar vertebral bodies, Beaking of verteb... ORPHA:3101
Acro-Renal-Ocular Syndrome
Hypoplasia of the ulna, Short distal phalanx of the thumb, Radial club hand, Short hallux, Short ... ORPHA:959
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2
Joint stiffness, Short palm, 11 pairs of ribs, Joint hypermobility, Scoliosis, Bicoronal synostos... OMIM:619184
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2
Advanced ossification of carpal bones, Carpal synostosis, Joint laxity, Platyspondyly, Pectus exc... OMIM:615349
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1
Hypoplastic sacrum, Spinal dysraphism, Absence of the sacrum, Tethered cord, Butterfly vertebrae OMIM:617660
Duane Retraction Syndrome
Short neck, Abnormal form of the vertebral bodies, Absent radius, Aplasia/Hypoplasia of the thumb... ORPHA:233
Seckel Syndrome 1
Hypoplasia of proximal radius, Dislocated radial head, 11 pairs of ribs, Micrognathia, Hypoplasia... OMIM:210600
Sacral Defect With Anterior Meningocele
Hemisacrum, Back pain, Absence of the sacrum, Anterior sacral meningocele, Meningocele OMIM:600145
Mucopolysaccharidosis, Type Iiib
Ovoid thoracolumbar vertebrae, Dense calvaria, Joint stiffness, Thickened ribs OMIM:252920
Cantu Syndrome
Short neck, Ovoid vertebral bodies, Osteoporosis, Platyspondyly, Cuboid-shaped vertebral bodies, ... OMIM:239850
Autosomal Recessive Stickler Syndrome
Irregular vertebral endplates, Joint hyperflexibility, Genu valgum, Platyspondyly ORPHA:250984
Spondyloepimetaphyseal Dysplasia With Multiple Dislocations
Genu varum, Premature osteoarthritis, Kyphosis, Radial head subluxation, Joint laxity, Generalize... ORPHA:93360
Anorectal Anomalies
Rectovaginal fistula, Anal atresia OMIM:107100
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Horizontal ribs, Hypoplasia of the ulna, Fibular hypoplasia, Short ribs, Thoracic dysplasia, Late... OMIM:208500
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Short thumb, Abnormal rib morphology, Short distal phalanx of finger, Death in infancy, Vertebral... ORPHA:1120
Odontochondrodysplasia 1
Coronal cleft vertebrae, Genu varum, Delayed ossification of carpal bones, Biconvex vertebral bod... OMIM:184260
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome
Sacral dimple, Rib fusion ORPHA:544488
3Mc Syndrome 1
Sacral dimple, Caudal appendage, Short 5th finger, Spina bifida occulta, Wide anterior fontanel, ... OMIM:257920
Wolf-Hirschhorn Syndrome
Kyphosis, Abnormal form of the vertebral bodies, Sacral dimple, Short hallux, Short thumb, Microg... OMIM:194190
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
11 pairs of ribs, Micrognathia, Micromelia, Hip dislocation, Short neck, Flexion contracture, Sho... OMIM:210710
Chondroectodermal Dysplasia With Night Blindness
Fractures of the long bones, Osteopenia, Osteoporosis, Platyspondyly, Abnormal patella morphology... ORPHA:319195
Microspherophakia-Metaphyseal Dysplasia
Spinal stenosis with reduced interpedicular distance, Flattened moderately deformed vertebrae OMIM:157151
Focal Dermal Hypoplasia
Short ribs, Scoliosis, Camptodactyly of finger, Short clavicles, Coarse metaphyseal trabeculariza... ORPHA:2092
Camptodactyly Syndrome, Guadalajara Type 3
Short neck, Small hand, Distal shortening of limbs, Spina bifida occulta, Short foot ORPHA:488434
Schwartz-Jampel Syndrome, Type 1
Coronal cleft vertebrae, Short neck, Congenital hip dislocation, Osteoporosis, Platyspondyly, Wri... OMIM:255800
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia
Ectopic anus, Aplasia/Hypoplasia of the distal phalanges of the hand, Aplasia/Hypoplasia of the d... ORPHA:94066
Dyssegmental Dysplasia With Glaucoma
Delayed epiphyseal ossification, Elbow flexion contracture, Hip contracture, Platyspondyly OMIM:601561
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type
Delayed ossification of carpal bones, Restricted large joint movement, Abnormal vertebral morphol... ORPHA:93346
Cranioectodermal Dysplasia 2
Horizontal ribs, Craniosynostosis, Short neck, Short ribs, Joint laxity, Rhizomelia, Micrognathia... OMIM:613610
Cat-Eye Syndrome (Type I)
Anal atresia DECIPHER:42
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Thoracic kyphosis, Ovoid vertebral bodies, Short neck, Abnormality of cranial sutures, Increased ... ORPHA:163649
Spondyloperipheral Dysplasia-Short Ulna Syndrome
Ovoid vertebral bodies, Abnormality of the vertebral endplates, Delayed pubic bone ossification, ... ORPHA:1856
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Anencephaly, Spina bifida ORPHA:2476
Radial Aplasia, X-Linked
Absent radius, Anal atresia OMIM:312190
Arthrogryposis Multiplex Congenita 5
Limitation of knee mobility, Short neck, Flexion contracture, Elbow flexion contracture, 11 pairs... OMIM:618947
Kniest Dysplasia
Coronal cleft vertebrae, Enlarged joints, Short neck, Tracheomalacia, Platyspondyly, Hip contract... OMIM:156550
Dyggve-Melchior-Clausen Syndrome, X-Linked
Thoracic kyphosis, Short neck, Hypoplastic sacrum, Platyspondyly, Barrel-shaped chest, Lumbar hyp... OMIM:304950
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome
Kyphosis, Short neck, Aplasia/Hypoplasia of toe, Abnormal rib morphology, Micrognathia, Aplasia/H... ORPHA:3082
Geroderma Osteodysplasticum
Wormian bones, Osteopenia, Vertebral compression fracture, Recurrent fractures, Beaking of verteb... OMIM:231070
Short Stature-Craniofacial Anomalies-Genital Hypoplasia Syndrome
Ectopic anus, Finger syndactyly, Triphalangeal thumb, Arachnodactyly, Short distal phalanx of fin... ORPHA:2994
Loeys-Dietz Syndrome 6
Knee osteoarthritis, Scoliosis, Hip osteoarthritis, Intervertebral disc degeneration OMIM:619656