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Gene: Meox1 MGI:103220

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Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
mesenchyme homeobox 1
Synonyms:
D330041M02Rik,  Mox-1,  Mox1,  squig

Order Alleles

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

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 Meox1 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 Meox1 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Isolated Klippel-Feil Syndrome
Short neck, Abnormal sacrum morphology, Abnormal rib morphology, Abnormal shoulder morphology, Ab... ORPHA:2345
Klippel-Feil Syndrome 2, Autosomal Recessive
Short neck, Fused cervical vertebrae, Scoliosis, Cervical C2/C3 vertebral fusion, Sprengel anomaly OMIM:214300

The table below shows human diseases predicted to be associated to Meox1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Spondylocostal Dysostosis 2, Autosomal Recessive
Short neck, Vertebral clefting, Hemivertebrae, Rib fusion, Vertebral segmentation defect OMIM:608681
Spondylocostal Dysostosis 6, Autosomal Recessive
Cervical kyphosis, Hemivertebrae, Spinal canal stenosis, Scoliosis, Butterfly vertebrae OMIM:616566
Sprengel Deformity
Rib segmentation abnormalities, Cervical segmentation defect, Hemivertebrae, Scoliosis, Sprengel ... OMIM:184400
Spondylocostal Dysostosis 3, Autosomal Recessive
Contracture of the proximal interphalangeal joint of the 2nd finger, Kyphosis, Hypoplasia of the ... OMIM:609813
Spondylocostal Dysostosis 5
Vertebral fusion, Low back pain, Short neck, Missing ribs, Hemivertebrae, Pectus carinatum, Poste... OMIM:122600
Spondylocostal Dysostosis 1, Autosomal Recessive
Back pain, Vertebral fusion, Block vertebrae, Abnormal odontoid process morphology, Kyphoscoliosi... OMIM:277300
Becker Nevus Syndrome
Pectus excavatum, Cervical ribs, Hemivertebrae, Scoliosis OMIM:604919
Spinal Dysplasia, Anhalt Type
Osteoarthritis of the small joints of the hand, Thoracolumbar scoliosis, Absent spinous processes... OMIM:601344
Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome
Sacral dimple, Tarsal synostosis, Joint stiffness, Abnormal form of the vertebral bodies, Posteri... ORPHA:2064
Brachyolmia, Maroteaux Type
Pectus excavatum, Short thorax, Abnormal form of the vertebral bodies, Platyspondyly, Scoliosis ORPHA:93302
Vertebral Fusion, Posterior Lumbosacral, With Blepharoptosis
Posterior fusion of lumbosacral vertebrae OMIM:192800
Dwarfism With Tall Vertebrae
Increased vertebral height OMIM:126950
Microcephaly With Cervical Spine Fusion Anomalies
Vertebral fusion, Spinal instability OMIM:251250
Autosomal Dominant Brachyolmia
Increased vertebral height, Platyspondyly, Short thorax, Kyphoscoliosis ORPHA:93304
Diaphanospondylodysostosis
Missing ribs, Short neck, Short thorax, Enlarged thorax, Absent or minimally ossified vertebral b... ORPHA:66637
Klippel-Feil Syndrome 3, Autosomal Dominant
Thoracic scoliosis, Cervical C3/C4 vertebral fusion, Cervical C5/C6 vertebrae fusion OMIM:613702
Poland Syndrome
Rib fusion, Hemivertebrae, Short ribs, Sprengel anomaly OMIM:173800
Dysostosis Multiplex, Ain-Naz Type
Glenoid fossa hypoplasia, Hip dislocation, Hemivertebrae, Flat acetabular roof, Scoliosis OMIM:619345
Autosomal Dominant Spondylocostal Dysostosis
Hyperlordosis, Short neck, Missing ribs, Abnormal sacrum morphology, Short thorax, Abnormal rib m... ORPHA:1797
Spondylometaphyseal Dysplasia, Corner Fracture Type
Ovoid vertebral bodies, Hypoplasia of the odontoid process, Pectus carinatum, Hyperconvex vertebr... OMIM:184255
Cervical Rib
Cervical ribs OMIM:117900
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome
Fused cervical vertebrae, Abnormal sacrum morphology, Thoracic hemivertebrae, Scoliosis ORPHA:1436
Acromesomelic Dysplasia, Maroteaux Type
Ovoid vertebral bodies, Hyperlordosis, Joint stiffness, Kyphosis, Abnormal form of the vertebral ... ORPHA:40
Acrodysplasia Scoliosis
Vertebral segmentation defect, Spina bifida occulta, Scoliosis ORPHA:2956
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome
Short neck, Abnormal rib morphology, Hemivertebrae, Abnormal form of the vertebral bodies, Abnorm... ORPHA:2234
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type
Lumbar hyperlordosis, Decreased hip abduction, Genu valgum, Pectus carinatum, Irregular vertebral... OMIM:609223
Spondylocostal Dysostosis 4, Autosomal Recessive
Vertebral fusion, Abnormal odontoid process morphology, Block vertebrae, Short neck, Missing ribs... OMIM:613686
Mental Retardation, Skeletal Dysplasia, And Abducens Palsy
Fused cervical vertebrae, Prominent metopic ridge, Thoracic hemivertebrae, Scoliosis OMIM:309620
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 2
11 pairs of ribs, Vertebral segmentation defect, Hemivertebrae, Narrow chest OMIM:617661
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Delayed skeletal maturation, Abnormality of the elbow, Abnormal rib morphology, Pectus carinatum,... ORPHA:3268
Osteomesopyknosis
Increased bone mineral density, Sclerotic vertebral body, Kyphosis, Abnormal form of the vertebra... ORPHA:2777
Multiple Synostoses Syndrome 2
Vertebral fusion, Tarsal synostosis, Humeroradial synostosis, Finger symphalangism, Proximal symp... OMIM:610017
Osteoarthritis With Mild Chondrodysplasia
Heberden's node, Joint stiffness, Knee osteoarthritis, Schmorl's node, Irregular vertebral endpla... OMIM:604864
Becker Nevus Syndrome
Pectus excavatum, Kyphosis, Rib fusion, Pectus carinatum, Supernumerary ribs, Scoliosis, Spina bi... ORPHA:64755
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A
Barrel-shaped chest, Vertebral fusion, Hip contracture, Elbow contracture, Multiple pterygia, Sho... OMIM:178110
Isolated Klippel-Feil Syndrome
Short neck, Abnormal sacrum morphology, Abnormal rib morphology, Abnormal shoulder morphology, Ab... ORPHA:2345
Brachydactyly, Type B1
Vertebral fusion, Hypoplastic sacrum, Thoracolumbar scoliosis, Wide anterior fontanel, Hemiverteb... OMIM:113000
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Vertebral fusion, Sacral dimple, Short thorax, Vertebral segmentation defect OMIM:618845
Kyphomelic Dysplasia
Anterior rib cupping, Joint stiffness, Missing ribs, Lateral clavicle hook, Limitation of joint m... ORPHA:1801
Kuskokwim Syndrome
Abnormal clavicle morphology, Aplasia/Hypoplasia of the patella, Joint stiffness, Abnormal form o... ORPHA:1149
Spondylometaphyseal Dysplasia, A4 Type
Platyspondyly, Limitation of joint mobility, Flared, irregular rib ends ORPHA:168555
Neurogenic Thoracic Outlet Syndrome
Abnormal rib morphology ORPHA:100073
Klippel-Feil Syndrome 2, Autosomal Recessive
Short neck, Fused cervical vertebrae, Scoliosis, Cervical C2/C3 vertebral fusion, Sprengel anomaly OMIM:214300
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Vertebral fusion, Block vertebrae, Short neck, Missing ribs, Hemivertebrae, Rib fusion, Thin ribs... OMIM:271520
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B
Fused thoracic vertebrae, Tarsal synostosis, Short neck, Flexion contracture, Antecubital pterygi... OMIM:618469
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Hemivertebrae, Abnormal rib morphology, Abnormal form of the vertebral bodies, Scoliosis, Sprenge... ORPHA:2180
Endosteal Hyperostosis, Worth Type
Sclerotic vertebral body, Generalized osteosclerosis, Abnormal rib morphology, Abnormal form of t... ORPHA:2790
Heart Defects-Limb Shortening Syndrome
Accelerated skeletal maturation, Kyphosis, Abnormal rib morphology, Abnormal form of the vertebra... ORPHA:1354
Symbrachydactyly Of Hands And Feet
Vertebral segmentation defect, Abnormality of the humeroulnar joint, Scoliosis ORPHA:1570
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Missing ribs, Abnormal rib morphology, Hemivertebrae, Abnormal form of the vertebral bodies, Join... ORPHA:2759
Autosomal Recessive Spondylocostal Dysostosis
Rib segmentation abnormalities, Abnormal intervertebral disk morphology, Camptodactyly of finger,... ORPHA:2311
Spondylocamptodactyly Syndrome
Platyspondyly, Camptodactyly of finger, Scoliosis ORPHA:3180
Brachyolmia Type 1, Hobaek Type
Osteopenia, Back pain, Sclerotic foci of metaphyses of the elbow, Short neck, Kyphosis, Flat acet... OMIM:271530
Osteogenesis Imperfecta, Type Ix
Recurrent fractures, Beaded ribs, Multiple prenatal fractures, Kyphosis, Pectus excavatum, Pectus... OMIM:259440
Mesomelic Dysplasia, Kantaputra Type
Camptodactyly of finger, Tarsal synostosis, Abnormal rib morphology, Vertebral segmentation defec... ORPHA:1836
Second Metatarsal-Metacarpal Syndrome
Platyspondyly, Synostosis of carpals/tarsals OMIM:269630
Bruck Syndrome 1
Joint laxity, Hip contracture, Protrusio acetabuli, Ankle flexion contracture, Kyphosis, Osteopor... OMIM:259450
Dysspondyloenchondromatosis
Joint dislocation, Enlarged joints, Kyphoscoliosis, Osteoarthritis, Generalized joint laxity, Del... ORPHA:85198
Braddock Syndrome
Missing ribs, Pectus excavatum, Short neck, Hemivertebrae, Scoliosis ORPHA:52047
Ring Chromosome 21 Syndrome
Fused thoracic vertebrae, Thoracic hemivertebrae, Abnormal thorax morphology, Scoliosis ORPHA:1445
Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant
Barrel-shaped chest, Lumbar hyperlordosis, Kyphoscoliosis, Short neck, Avascular necrosis of the ... OMIM:184100
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Superior rib anomalies, Abnormality of the cervical spine OMIM:307500
Cenani-Lenz Syndactyly Syndrome
Pectus excavatum, Hemivertebrae, Radioulnar synostosis, Scoliosis, Metacarpal synostosis OMIM:212780
Spondyloepiphyseal Dysplasia Tarda With Mental Retardation
Platyspondyly, Anterior beaking of lumbar vertebrae OMIM:271620
Femoral-Facial Syndrome
Abnormal sacrum morphology, Abnormal rib morphology, Rib fusion, Radioulnar synostosis, Vertebral... ORPHA:1988
Brachyolmia Type 1, Toledo Type
Back pain, Kyphoscoliosis, Short neck, Precocious costochondral ossification, Irregular vertebral... OMIM:271630
Spondyloepiphyseal Dysplasia, Maroteaux Type
Platyspondyly, Genu valgum OMIM:184095
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2
Vertebral segmentation defect, Abnormal rib morphology, Short neck ORPHA:2578
Klippel-Feil Syndrome 1, Autosomal Dominant
Short neck, Abnormal rib morphology, Scoliosis, Cervical C2/C3 vertebral fusion, Sprengel anomaly... OMIM:118100
Spondyloepiphyseal Dysplasia Tarda, Kohn Type
Abnormality of the knee, Restricted large joint movement, Platyspondyly, Abnormality of the ankle... ORPHA:163665
Osteogenesis Imperfecta, Type Vi
Joint laxity, Protrusio acetabuli, Vertebral compression fracture, Increased susceptibility to fr... OMIM:613982
Myotonia With Skeletal Abnormalities And Mental Retardation
Kyphoscoliosis, Vertebral wedging, Pectus carinatum, Bell-shaped thorax, Genu valgum OMIM:255710
Spondyloepiphyseal Dysplasia, Kimberley Type
Osteoarthritis, Short thorax, Platyspondyly ORPHA:93283
Spondylosis, Cervical
Osteoarthritis, Cervical spondylosis, Spondylolysis, Spina bifida occulta, Spondylolisthesis OMIM:184300
Thoracolaryngopelvic Dysplasia
Irregular chondrocostal junctions, Bell-shaped thorax, Irregular vertebral endplates, Short ribs,... OMIM:187760
Spondyloepiphyseal Dysplasia, Stanescu Type
Stiff neck, Kyphoscoliosis, Joint stiffness, Vertebral wedging, Platyspondyly, Beaking of vertebr... OMIM:616583
Osteogenesis Imperfecta, Type Xv
Recurrent fractures, Thin ribs, Platyspondyly, Bowing of limbs due to multiple fractures, Scolios... OMIM:615220
Cerebrofaciothoracic Dysplasia
Short neck, Hemivertebrae, Rib fusion, Vertebral segmentation defect, Narrow chest, Scoliosis, Bi... ORPHA:1394
Developmental And Speech Delay Due To Sox5 Deficiency
Vertebral fusion, Thoracic kyphoscoliosis, Lumbar hyperlordosis, Pectus carinatum, Scoliosis, But... ORPHA:313892
Osteosclerotic Metaphyseal Dysplasia
Increased bone mineral density, Sclerotic vertebral endplates, Clavicular sclerosis OMIM:615198
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome
Vertebral fusion, Elbow dislocation, Kyphosis, Hemivertebrae, Abnormal form of the vertebral bodi... ORPHA:2916
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods
Fusion of midcervical facet joints, Widening of cervical spinal canal, Cervical vertebral bodies ... OMIM:606842
Metatropic Dysplasia
Abnormal intervertebral disk morphology, Camptodactyly of finger, Abnormal enchondral ossificatio... ORPHA:2635
Greenberg Dysplasia
Abnormally ossified vertebrae, Abnormal pelvis bone ossification, Anterior rib punctate calcifica... ORPHA:1426
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Abnormal clavicle morphology, Hyperlordosis, Short neck, Kyphosis, Pectus excavatum, Abnormal rib... ORPHA:2522
Acro-Renal-Mandibular Syndrome
Abnormal clavicle morphology, Hypoplastic scapulae, Short neck, Kyphosis, Hemivertebrae, Hip disl... ORPHA:958
Spondylometaphyseal Dysplasia, Type A4
Ovoid vertebral bodies, Enlargement of the costochondral junction, Flat acetabular roof, Pectus c... OMIM:609052
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome
Abnormal rib morphology ORPHA:2435
Gorlin Syndrome
Vertebral fusion, Vertebral wedging, Hemivertebrae, Scoliosis ORPHA:377
Epiphyseal Dysplasia, Multiple, 7
Advanced ossification of carpal bones, Vertebral wedging, Flat acetabular roof, Platyspondyly, Ge... OMIM:617719
Acrocapitofemoral Dysplasia
Ovoid vertebral bodies, Hyperlordosis, Pectus excavatum, Delayed skeletal maturation, Short thora... ORPHA:63446
Trigonocephaly 1
Metopic synostosis, Lumbar hemivertebrae, Craniosynostosis OMIM:190440
Brachyolmia Type 2
Platyspondyly OMIM:613678
Multiple Pterygium Syndrome, X-Linked
Joint dislocation, Vertebral fusion, Abnormal cervical curvature, Multiple pterygia, Flexion cont... OMIM:312150
Pontine Tegmental Cap Dysplasia
Ankle clonus, Rib fusion, Hemivertebrae, Scoliosis OMIM:614688
Osteogenesis Imperfecta, Type Xix
Osteopenia, Recurrent fractures, Multiple prenatal fractures, Pectus excavatum, Vertebral wedging... OMIM:301014
Oculogastrointestinal Neurodevelopmental Syndrome
Sacral dimple, Hemivertebrae OMIM:619318
Congenital Amegakaryocytic Thrombocytopenia
Decreased skull ossification, Scoliosis, Abnormal form of the vertebral bodies, Short neck ORPHA:3319
Acropectorovertebral Dysplasia
Capitate-hamate fusion, Abnormal thorax morphology, Spina bifida occulta at S1, Spina bifida occu... OMIM:102510
Verheij Syndrome
Joint laxity, Vertebral fusion, Short neck, Hemivertebrae, Hip dislocation, Scoliosis OMIM:615583
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly
Lateral clavicle hook, Trident acetabulum, Narrow chest, Short ribs, Acetabular spurs, Horizontal... OMIM:617405
Multiple Pterygium Syndrome, Lethal Type
Joint dislocation, Vertebral fusion, Abnormal cervical curvature, Multiple pterygia, Flexion cont... OMIM:253290
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
11 pairs of ribs, Hemivertebrae, Abnormal vertebral morphology ORPHA:77298
Wildervanck Syndrome
Fused cervical vertebrae OMIM:314600
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3
Joint laxity, Short neck, Multiple joint dislocation, Hip dislocation, Thin ribs, Irregular verte... OMIM:618395
Kbg Syndrome
Vertebral fusion, Persistent open anterior fontanelle, Short neck, Delayed skeletal maturation, T... ORPHA:2332
Keratoconus Posticus Circumscriptus
Limited elbow extension and supination, Abnormal vertebral segmentation and fusion, Short neck OMIM:244600
Osteogenesis Imperfecta, Type V
Osteopenia, Hyperextensibility of the finger joints, Wormian bones, Recurrent fractures, Vertebra... OMIM:610967
Progressive Non-Infectious Anterior Vertebral Fusion
Proximal radio-ulnar synostosis, Abnormal intervertebral disk morphology, Spinal rigidity, Joint ... ORPHA:2062
Ritscher-Schinzel Syndrome 1
Hemivertebrae, Missing ribs OMIM:220210
Multiple Pterygium Syndrome, Escobar Variant
Multiple joint contractures, Short neck, Flexion contracture, Knee flexion contracture, Intercrur... OMIM:265000
Basal Cell Nevus Syndrome 1
Vertebral fusion, Down-sloping shoulders, Kyphoscoliosis, Irregular ossification of hand bones, H... OMIM:109400
Kniest Dysplasia
Arthropathy, Enlarged joints, Short neck, Joint stiffness, Hypoplasia of the odontoid process, De... ORPHA:485
Pseudoachondroplasia
Limited hip extension, Distal joint laxity, Delayed epiphyseal ossification, Osteoarthritis, Gene... ORPHA:750
Progressive Pseudorheumatoid Arthropathy Of Childhood
Irregularity of vertebral bodies, Wrist swelling, Abnormal shoulder morphology, Irregular vertebr... ORPHA:1159
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
Short neck, Reduced bone mineral density, Pectus carinatum, Abnormal bone ossification, Abnormal ... ORPHA:93315
Metatropic Dysplasia
Enlarged joints, Flexion contracture, Long coccyx, Narrow chest, Flaring of rib cage, Anisospondy... OMIM:156530
Mayer-Rokitansky-Küster-Hauser Syndrome
Vertebral fusion, Abnormal sacrum morphology, Abnormal form of the vertebral bodies, Vertebral se... ORPHA:3109
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism
Congenital hip dislocation, Pectus excavatum, Hemivertebrae, Scoliosis, Cubitus valgus OMIM:104350
Chondrodysplasia Punctata 2, X-Linked Dominant
Kyphoscoliosis, Short neck, Abnormal thorax morphology, Hemivertebrae, Punctate vertebral calcifi... OMIM:302960
Anauxetic Dysplasia 2
Thoracolumbar kyphoscoliosis, Ovoid vertebral bodies, Hyperlordosis, Short neck, Delayed skeletal... OMIM:617396
Spondyloepimetaphyseal Dysplasia, Irapa Type
Lumbar hyperlordosis, Hypoplastic sacrum, Capitate-hamate fusion, Osteoarthritis, Enlargement of ... OMIM:271650
Proximal 16P11.2 Microduplication Syndrome
Hemivertebrae, Scoliosis ORPHA:370079
Microphthalmia, Syndromic 3
Vertebral fusion, Missing ribs, Rib fusion, Hemivertebrae, Supernumerary ribs, Butterfly vertebra... OMIM:206900
Meier-Gorlin Syndrome 1
Genu recurvatum, Lateral clavicle hook, Flexion contracture, Hemivertebrae, Flat glenoid fossa, P... OMIM:224690
Camptodactyly Syndrome, Guadalajara Type 2
Camptodactyly of finger, Pectus excavatum, Cuboid-shaped vertebral bodies, Hip dislocation, Patel... ORPHA:1326
Phosphoribosylaminoimidazole Carboxylase Deficiency
Lumbar hemivertebrae, Missing ribs, Short neck OMIM:619859
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Vertebral fusion, Elbow contracture, Hyperlordosis, Kyphosis, Achilles tendon contracture, Scoliosis OMIM:606612
Spondyloepimetaphyseal Dysplasia, Irapa Type
Osteoarthritis, Limitation of joint mobility, Abnormal carpal morphology, Osteoporosis, Abnormal ... ORPHA:93351
Congenital Disorder Of Glycosylation, Type Iig
Osteopenia, Thoracic scoliosis, Kyphoscoliosis, Short neck, Rib fusion, Posterior rib gap, Verteb... OMIM:611209
Bresek Syndrome
Hemivertebrae, Scoliosis ORPHA:85284
Autosomal Recessive Multiple Pterygium Syndrome
Camptodactyly of finger, Multiple pterygia, Pectus excavatum, Limitation of joint mobility, Rib f... ORPHA:2990
Familial Congenital Mirror Movements
Fused cervical vertebrae ORPHA:238722
Poland Syndrome
Aplasia/Hypoplasia of the sternum, Short neck, Missing ribs, Kyphosis, Hemivertebrae, Finger symp... ORPHA:2911
Epiphyseal Dysplasia, Multiple, 1
Ovoid vertebral bodies, Joint stiffness, Avascular necrosis of the capital femoral epiphysis, Del... OMIM:132400
Spondyloepiphyseal Dysplasia Tarda, X-Linked
Back pain, Barrel-shaped chest, Lumbar hyperlordosis, Short neck, Kyphosis, Limitation of joint m... OMIM:313400
Maxillonasal Dysplasia, Binder Type
Patchy distortion of vertebrae, Vertebral clefting OMIM:155050
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2
Joint laxity, Prominent metopic ridge, Genu valgum, Scoliosis, Thoracic hemivertebrae OMIM:619721
Hypochondroplasia
Hyperlordosis, Osteoarthritis, Abnormality of the elbow, Spinal canal stenosis, Abnormal form of ... ORPHA:429
Lethal Congenital Contracture Syndrome Type 1
Recurrent fractures, Short neck, Abnormality of the elbow, Limitation of joint mobility, Abnormal... ORPHA:1486
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
Hyperextensibility of the finger joints, Vertebral fusion, Sacral dimple, Craniosynostosis, Short... OMIM:213980
Smith-Mccort Dysplasia 1
Barrel-shaped chest, Multicentric femoral head ossification, Hypoplastic scapulae, Short neck, Hy... OMIM:607326
3C Syndrome
Missing ribs, Short neck, Kyphosis, Hemivertebrae, Scoliosis ORPHA:7
Acrorenal-Mandibular Syndrome
Hypoplastic scapulae, Kyphoscoliosis, Missing ribs, Elbow flexion contracture, Hemivertebrae, Hip... OMIM:200980
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies
Pectus excavatum, Hypoplastic distal segments of scapulae, Abnormal rib morphology, Joint hypermo... OMIM:602196
Spondyloepiphyseal Dysplasia Tarda
Back pain, Osteoarthritis of the distal interphalangeal joint, Limited elbow movement, Short neck... ORPHA:93284
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects
Radioulnar synostosis, Vertebral clefting, Hemivertebrae, Pectus carinatum OMIM:614701
Spondylocarpotarsal Synostosis Syndrome
Vertebral fusion, Scapular winging, Block vertebrae, Tarsal synostosis, Hyperlordosis, Short neck... OMIM:272460
Aarskog-Scott Syndrome
Genu recurvatum, Camptodactyly of finger, Short neck, Pectus excavatum, Joint hyperflexibility, A... ORPHA:915
Alkaptonuria
Arthropathy, Vertebral fusion, Low back pain, Kyphosis, Limited shoulder movement, Arthritis, Lim... OMIM:203500
Otopalatodigital Syndrome Type 1
Increased bone mineral density, Elbow dislocation, Limitation of joint mobility, Abnormal vertebr... ORPHA:90650
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Lumbar hyperlordosis, Cupped ribs, Flat acetabular roof, Irregular vertebral endplates, Platyspon... OMIM:609616
Wildervanck Syndrome
Fused cervical vertebrae, Short neck ORPHA:3456
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome
Elbow dislocation, Vertebral segmentation defect, Camptodactyly of finger ORPHA:2631
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Vertebral fusion, Hyperlordosis, Kyphosis, Achilles tendon contracture, Scoliosis OMIM:607155
Caudal Regression Syndrome
Joint stiffness, Missing ribs, Aplasia/Hypoplasia of the sacrum, Hypoplastic vertebral bodies, Sc... ORPHA:3027
Geroderma Osteodysplastica
Beaking of vertebral bodies, Recurrent fractures, Osteoporosis, Hip dislocation, Abnormal form of... ORPHA:2078
Proximal 16P11.2 Microdeletion Syndrome
Craniosynostosis, Rib fusion, Abnormal vertebral morphology, Scoliosis ORPHA:261197
Osteogenesis Imperfecta, Type Xxi
Barrel-shaped chest, Recurrent fractures, Pectus excavatum, Osteoporosis, Bell-shaped thorax, Pla... OMIM:619131
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia
Long clavicles, Elbow dislocation, Lateral clavicle hook, Anterior vertebral fusion, Radioulnar s... OMIM:171480
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
Osteopenia, Pectus excavatum, Delayed skeletal maturation, Thin ribs, Lumbar hemivertebrae, Abnor... ORPHA:2463
Lenz-Majewski Hyperostotic Dwarfism
Joint laxity, Hyperextensibility of the finger joints, Broad clavicles, Delayed skeletal maturati... OMIM:151050
Al Kaissi Syndrome
Sacral dimple, Hemivertebrae OMIM:617694
Fibrochondrogenesis 2
Cupped ribs, Bell-shaped thorax, Platyspondyly, Short ribs, Thoracic hypoplasia OMIM:614524
Chst3-Related Skeletal Dysplasia
Barrel-shaped chest, Enlarged joints, Kyphoscoliosis, Flexion contracture, Abnormality of the elb... ORPHA:263463
Bruck Syndrome 2
Osteopenia, Flexion contracture, Elbow flexion contracture, Increased susceptibility to fractures... OMIM:609220
Robinow Syndrome, Autosomal Recessive 1
Joint laxity, Vertebral fusion, Hypoplastic sacrum, Thoracolumbar scoliosis, Short neck, Missing ... OMIM:268310
Frontometaphyseal Dysplasia 1
Scapular winging, Interphalangeal joint contracture of finger, Limited elbow movement, Ankle flex... OMIM:305620
White Forelock With Malformations
Delayed skeletal maturation, Abnormal rib morphology, Joint hyperflexibility, Sprengel anomaly, S... ORPHA:2475
Aicardi Syndrome
Block vertebrae, Missing ribs, Rib fusion, Hemivertebrae, Supernumerary ribs, Scoliosis, Bifid ri... OMIM:304050
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Osteopenia, Osteomyelitis, Osteolysis, Fused cervical vertebrae, Joint swelling, Flaring of rib c... OMIM:612852
Neuronal Intranuclear Inclusion Disease
Spina bifida occulta, Scoliosis, Abnormal form of the vertebral bodies ORPHA:2289
Spondylometaphyseal Dysplasia With Corneal Dystrophy
Increased intervertebral space, Thoracic platyspondyly, Narrow chest, Short ribs, Beaking of vert... OMIM:618961
Multiple Epiphyseal Dysplasia, Beighton Type
Low back pain, Thoracic scoliosis, Abnormal acetabulum morphology, Joint stiffness, Thoracic plat... ORPHA:166011
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Abnormal clavicle morphology, Short neck, Abnormal rib morphology, Platyspondyly, Narrow chest, D... ORPHA:93267
Robin Sequence-Oligodactyly Syndrome
Abnormal form of the vertebral bodies ORPHA:3104
Mosaic Trisomy 9
Camptodactyly of finger, Short neck, Elbow dislocation, Limitation of joint mobility, Hemivertebr... ORPHA:99776
Axial Spondylometaphyseal Dysplasia
Osteopenia, Aplasia/Hypoplasia of the vertebrae, Thoracic scoliosis, Aplasia/Hypoplasia of the ri... ORPHA:168549
Kbg Syndrome
Vertebral fusion, Short neck, Delayed skeletal maturation, Rib fusion, Vertebral arch anomaly, Th... OMIM:148050
Femoral-Facial Syndrome
Limited elbow movement, Missing ribs, Humeroradial synostosis, Hemivertebrae, Absent vertebra, Li... OMIM:134780
Laryngotracheoesophageal Cleft Type 4
Abnormal rib morphology, Abnormal form of the vertebral bodies ORPHA:93941
Osteogenesis Imperfecta, Type Xviii
Joint laxity, Recurrent fractures, Joint hypermobility, Thin ribs, Biconcave vertebral bodies, Wo... OMIM:617952
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Short neck, Kyphosis, Hemivertebrae, Contracture of the proximal interphalangeal joint of the 4th... OMIM:618223
Larsen Syndrome
Joint laxity, Vertebral fusion, Cervical kyphosis, Elbow dislocation, Pectus excavatum, Dislocate... OMIM:150250
Osteogenesis Imperfecta, Type Iii
Protrusio acetabuli, Severe generalized osteoporosis, Recurrent fractures, Multiple prenatal frac... OMIM:259420
Mosaic Trisomy 20
Vertebral fusion, Down-sloping shoulders, Kyphosis, Spinal canal stenosis, Fused cervical vertebr... ORPHA:1724
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type
Lumbar hyperlordosis, Ovoid vertebral bodies, Pectus excavatum, Flat acetabular roof, Posterior r... OMIM:608728
Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome
Elbow dislocation, Asymmetry of the thorax, Hemivertebrae ORPHA:1112
Brachyolmia Type 3
Barrel-shaped chest, Short neck, Kyphosis, Platyspondyly, Scoliosis OMIM:113500
Spondyloepimetaphyseal Dysplasia, Missouri Type
Irregular sclerotic endplates, Delayed skeletal maturation, Osteoarthritis, Platyspondyly, Flared... OMIM:602111
Intellectual Developmental Disorder, Autosomal Dominant 1
Clavicular pseudarthrosis, Short thorax, Hemivertebrae, Scoliosis OMIM:156200
Aicardi Syndrome
Block vertebrae, Missing ribs, Rib fusion, Supernumerary ribs, Scoliosis, Bifid ribs, Butterfly v... ORPHA:50
Cog1-Cdg
Osteopenia, Irregularity of vertebral bodies, Kyphoscoliosis, Short neck, Rib fusion, Posterior r... ORPHA:263508
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism
Thoracolumbar scoliosis, Short neck, Flexion contracture, Cervical C2/C3 vertebral fusion, Acetab... OMIM:616549
Spondyloepimetaphyseal Dysplasia, Shohat Type
Joint laxity, Lumbar hyperlordosis, Short neck, Delayed epiphyseal ossification, Bell-shaped thor... OMIM:602557
Grant Syndrome
Joint dislocation, Abnormal rib morphology, Joint hyperflexibility, Narrow chest, Wormian bones, ... ORPHA:2097
Thakker-Donnai Syndrome
Cervical C2/C3 vertebral fusion, Hemivertebrae, Short neck ORPHA:1780
Diastrophic Dysplasia
Joint dislocation, Abnormal clavicle morphology, Increased bone mineral density, Camptodactyly of... ORPHA:628
Mucopolysaccharidosis, Type X
Spatulate ribs, Hyperlordosis, Broad clavicles, Genu valgum, Platyspondyly, Posterior scalloping ... OMIM:619698
Congenital Pseudoarthrosis Of The Clavicle
Congenital pseudoarthrosis of the clavicle, Osteoarthritis, Cervical ribs ORPHA:66630
Sheldon-Hall Syndrome
Ulnar deviation of the wrist, Tarsal synostosis, Joint stiffness, Short neck, Vertebral segmentat... ORPHA:1147
Schneckenbecken Dysplasia
Hypoplastic scapulae, Ovoid vertebral bodies, Anterior rib cupping, Short neck, Lateral clavicle ... OMIM:269250
Mucopolysaccharidosis Type 4
Joint dislocation, Hyperlordosis, Short neck, Kyphosis, Delayed skeletal maturation, Short thorax... ORPHA:582
Lamb-Shaffer Syndrome
Fused cervical vertebrae, Thoracic kyphosis, Scoliosis ORPHA:530983
Ehlers-Danlos Syndrome, Classic-Like, 2
Osteopenia, Thoracic scoliosis, Short neck, Osteoarthritis, Generalized joint laxity, Osteoporosi... OMIM:618000
Neural Tube Defects, Susceptibility To
Absence of the sacrum, Sacral dimple, Spina bifida occulta, Asymmetry of spinal facet joints OMIM:182940
Spondyloepimetaphyseal Dysplasia, Strudwick Type
Anterior rib cupping, Hyperlordosis, Hypoplasia of the odontoid process, Genu valgum, Pectus cari... OMIM:184250
Osteogenesis Imperfecta, Type Ii
Recurrent fractures, Beaded ribs, Multiple prenatal fractures, Absent ossification of calvaria, T... OMIM:166210
Pseudoachondroplasia
Joint laxity, Lumbar hyperlordosis, Genu recurvatum, Limited hip extension, Ulnar deviation of th... OMIM:177170
Mucolipidosis Type Iii
Hyperlordosis, Joint stiffness, Abnormal form of the vertebral bodies, Reduced bone mineral density ORPHA:577
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Lateral clavicle hook, Bell-shaped thorax, Thoracic dysplasia, Narrow chest, Horizontal ribs OMIM:615633
Pseudotrisomy 13 Syndrome
11 pairs of ribs, Hemivertebrae OMIM:264480
Osteogenesis Imperfecta, Type Xvi
Osteopenia, Multiple rib fractures, Recurrent fractures, Beaded ribs, Decreased calvarial ossific... OMIM:616229
Lateral Meningocele Syndrome
Vertebral fusion, Short neck, Pectus excavatum, Kyphosis, Sclerosis of skull base, Scoliosis, Wor... OMIM:130720
Mosaic Trisomy 14
Narrow chest, Abnormal rib morphology, Camptodactyly of finger, Short neck ORPHA:1703
Caudal Duplication
Abnormal sacrum morphology, Bifid sacrum, Vertebral segmentation defect ORPHA:1756
Mucopolysaccharidosis, Type Iva
Joint laxity, Ulnar deviation of the wrist, Ovoid vertebral bodies, Hyperlordosis, Short neck, Hy... OMIM:253000
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Scoliosis, Abnormal form of the vertebral bodies, Reduced bone mineral density ORPHA:2370
Spondylometaphyseal Dysplasia, Kozlowski Type
Increased intervertebral space, Delayed epiphyseal ossification, Pectus carinatum, Thoracic kypho... ORPHA:93314
Mycetoma
Back pain, Abnormality of the knee, Osteomyelitis, Abnormal thorax morphology, Osteoporosis, Abno... ORPHA:2583
Juberg-Hayward Syndrome
Abnormality of the elbow, Abnormal rib morphology, Radioulnar synostosis, Scoliosis, Abnormality ... ORPHA:2319
Fibrochondrogenesis
Hypoplastic scapulae, Camptodactyly of finger, Short neck, Wide anterior fontanel, Abnormal rib m... ORPHA:2021
Ghosal Hematodiaphyseal Dysplasia
Abnormal form of the vertebral bodies ORPHA:1802
Osteopetrosis, Autosomal Dominant 2
Recurrent fractures, Mandibular osteomyelitis, Fractures of the long bones, Generalized osteoscle... OMIM:166600
Koolen-De Vries Syndrome
Vertebral fusion, Pectus excavatum, Kyphosis, Hip dislocation, Joint hyperflexibility, Vertebral ... ORPHA:96169
Diaphanospondylodysostosis
Delayed vertebral ossification, Absent in utero ossification of vertebral bodies, Absent in utero... OMIM:608022
Osteoglosphonic Dysplasia
Abnormal clavicle morphology, Craniosynostosis, Delayed skeletal maturation, Abnormal form of the... ORPHA:2645
Osteogenesis Imperfecta, Type Xi
Osteopenia, Joint laxity, Recurrent fractures, Protrusio acetabuli, Kyphoscoliosis, Vertebral wed... OMIM:610968
Craniodiaphyseal Dysplasia
Abnormal rib morphology ORPHA:1513
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Pectus excavatum, Fused cervical vertebrae, Sprengel anomaly, Spina bifida occulta, Butterfly ver... OMIM:619227
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Ovoid vertebral bodies, Joint stiffness, Cupped ribs, Platyspondyly, Scoliosis, Severe platyspondyly OMIM:608940
Septopreoptic Holoprosencephaly
Abnormal rib morphology, Abnormal vertebral morphology ORPHA:280195
Richieri Costa-Da Silva Syndrome
Joint dislocation, Kyphoscoliosis, Short neck, Limitation of joint mobility, Vertebral wedging, G... ORPHA:3101
Camptodactyly-Joint Contractures-Facial Skeletal Defects Syndrome
Camptodactyly of finger, Hyperlordosis, Joint stiffness, Vertebral segmentation defect, Scoliosis... ORPHA:1323
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Short neck, Flexion contracture, Hemivertebrae, Narrow chest, Interphalangeal joint contracture o... ORPHA:96334
Rhizomelic Syndrome, Urbach Type
Abnormality of the knee, Short neck, Kyphosis, Wide anterior fontanel, Limitation of joint mobili... ORPHA:3098
Fibrodysplasia Ossificans Progressiva
Small cervical vertebral bodies, Progressive cervical vertebral spine fusion, Ectopic ossificatio... OMIM:135100
Holt-Oram Syndrome
Abnormal clavicle morphology, Down-sloping shoulders, Joint stiffness, Pectus excavatum, Kyphosis... ORPHA:392
Achondrogenesis Type 1B
Abnormal enchondral ossification, Short neck, Short thorax, Abnormal rib morphology, Narrow chest ORPHA:93298
Three M Syndrome 1
Joint dislocation, Scapular winging, Hyperlordosis, Short neck, Increased vertebral height, Delay... OMIM:273750
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Aplasia/Hypoplasia of the ribs, Thoracic scoliosis, Cervical hemivertebrae, Short neck, Pectus ex... ORPHA:508498
Microcephalic Primordial Dwarfism, Montreal Type
Kyphosis, Vertebral segmentation defect, Scoliosis, Reduced bone mineral density ORPHA:2617
Spondyloepiphyseal Dysplasia Congenita
Barrel-shaped chest, Lumbar hyperlordosis, Ovoid vertebral bodies, Limited elbow movement, Short ... OMIM:183900
Hatipoglu Immunodeficiency Syndrome
Hemivertebrae OMIM:620331
Atelosteogenesis, Type Iii
Cervical segmentation defect, Cervical kyphosis, Short neck, Elbow dislocation, Flat acetabular r... OMIM:108721
Leri Pleonosteosis
Genu recurvatum, Camptodactyly of finger, Joint stiffness, Elbow dislocation, Abnormally straight... ORPHA:2900
Infantile-Onset X-Linked Spinal Muscular Atrophy
Hip contracture, Interphalangeal joint contracture of finger, Ankle flexion contracture, Kyphosco... ORPHA:1145
Deafness-Epiphyseal Dysplasia-Short Stature Syndrome
Hyperlordosis, Short thorax, Abnormal form of the vertebral bodies, Short neck ORPHA:3218
Spondyloepimetaphyseal Dysplasia, Shohat Type
Joint laxity, Short neck, Hyperlordosis, Delayed epiphyseal ossification, Premature osteoarthriti... ORPHA:93352
Phaver Syndrome
Camptodactyly of finger, Joint stiffness, Abnormal rib morphology, Abnormal form of the vertebral... ORPHA:2876
Dyggve-Melchior-Clausen Disease
Short neck, Flat glenoid fossa, Pectus carinatum, Thoracic kyphosis, Multicentric ossification of... OMIM:223800
Autosomal Recessive Robinow Syndrome
Sacral dimple, Camptodactyly of finger, Short neck, Elbow dislocation, Kyphosis, Pectus excavatum... ORPHA:1507
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Barrel-shaped chest, Pilonidal sinus, Aplasia/Hypoplasia involving the carpal bones, Short neck, ... OMIM:276820
Cole-Carpenter Syndrome
Recurrent fractures, Kyphosis, Abnormal rib morphology, Abnormal form of the vertebral bodies, Jo... ORPHA:2050
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Sprengel anomaly, Abnormality of the vertebral column, Abnormal rib morphology OMIM:601076
Pallister-Hall Syndrome
Radial head subluxation, Hemivertebrae, Rib fusion, Hip dislocation OMIM:146510
Mucopolysaccharidosis, Type Iiia
Thickened ribs, Joint stiffness, Ovoid thoracolumbar vertebrae, Scoliosis, Dense calvaria OMIM:252900
Stapes Ankylosis With Broad Thumbs And Toes
Fused cervical vertebrae, Proximal/middle symphalangism of 5th finger OMIM:184460
Incontinentia Pigmenti
Hemivertebrae, Supernumerary ribs, Kyphoscoliosis OMIM:308300
Vacterl With Hydrocephalus
Absence of the sacrum, Hemivertebrae, Abnormal form of the vertebral bodies, Hip dislocation ORPHA:3412
Thrombocytopenia-Absent Radius Syndrome
Aplasia/Hypoplasia of the patella, Hip dislocation, Fused cervical vertebrae, Cervical ribs, Pate... ORPHA:3320
Osteogenesis Imperfecta, Type Viii
Osteopenia, Joint laxity, Barrel-shaped chest, Recurrent fractures, Multiple prenatal fractures, ... OMIM:610915
Prune Belly Syndrome
Congenital hip dislocation, Pectus excavatum, Abnormal rib morphology, Vertebral segmentation def... ORPHA:2970
Axial Mesodermal Dysplasia Spectrum
Abnormality of the knee, Short neck, Missing ribs, Abnormal rib morphology, Abnormal form of the ... ORPHA:1834
Wolf-Hirschhorn Syndrome
Rib segmentation abnormalities, Sacral dimple, Kyphosis, Delayed skeletal maturation, Abnormal th... ORPHA:280
Dyggve-Melchior-Clausen Disease
Glenoid fossa hypoplasia, Short neck, Hypoplasia of the odontoid process, Abnormality of the vert... ORPHA:239
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
11 pairs of ribs, Platyspondyly, Decreased skull ossification, Thin ribs OMIM:300863
Atelosteogenesis, Type I
11 pairs of ribs, Long clavicles, Short neck, Thoracic platyspondyly, Elbow dislocation, Bell-sha... OMIM:108720
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Kyphosis, Kyphoscoliosis, Hemivertebrae, Scoliosis OMIM:301040
Robinow Syndrome
Fused thoracic vertebrae, Kyphoscoliosis, Missing ribs, Hemivertebrae, Rib fusion, Scoliosis ORPHA:97360
7Q11.23 Microduplication Syndrome
Sacral dimple, Craniosynostosis, Short neck, Pectus excavatum, Hemivertebrae, Tracheomalacia, Cub... ORPHA:96121
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Disc-like vertebral bodies, Ovoid vertebral bodies, Short neck, Flat acetabular roof, Wafer-thin ... OMIM:151210
Split Cord Malformation
Back pain, Abnormal thoracic spine morphology, Low back pain, Kyphoscoliosis, Hyperlordosis, Hemi... ORPHA:573278
Cooper-Jabs Syndrome
Camptodactyly of finger, Missing ribs, Abnormal rib morphology, Reduced bone mineral density, Joi... ORPHA:1488
Otopalatodigital Syndrome Type 2
Increased bone mineral density, Tarsal synostosis, Camptodactyly of finger, Elbow dislocation, Ab... ORPHA:90652
Zttk Syndrome
Craniosynostosis, Kyphosis, Flexion contracture, Hemivertebrae, Rib fusion, Cervical ribs, Scolio... OMIM:617140
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome
Sacral dimple, Rib fusion ORPHA:544488
3M Syndrome
Scapular winging, Congenital hip dislocation, Hyperlordosis, Short neck, Increased vertebral heig... ORPHA:2616
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Vertebral segmentation defect, Joint stiffness ORPHA:1166
Autosomal Dominant Robinow Syndrome
Sacral dimple, Camptodactyly of finger, Short neck, Elbow dislocation, Avascular necrosis of the ... ORPHA:3107
Cardiospondylocarpofacial Syndrome
Joint laxity, Tarsal synostosis, Delayed skeletal maturation, Rib fusion, Fused cervical vertebra... OMIM:157800
Melnick-Needles Syndrome
Delayed cranial suture closure, Short thorax, Hip dislocation, Abnormal rib morphology, Osteolyti... ORPHA:2484
Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome
Vertebral segmentation defect ORPHA:3004
Hypocalcemic Vitamin D-Resistant Rickets
Joint dislocation, Osteomalacia, Recurrent fractures, Abnormal thorax morphology, Bone pain, Oste... ORPHA:93160
Mucopolysaccharidosis, Type Iiib
Thickened ribs, Dense calvaria, Ovoid thoracolumbar vertebrae, Joint stiffness OMIM:252920
Jeune Syndrome
Abnormal clavicle morphology, Short thorax, Abnormal rib morphology, Abnormal sternum morphology,... ORPHA:474
Faciodigitogenital Syndrome, Autosomal Recessive
Vertebral fusion, Down-sloping shoulders, Pectus excavatum, Hyperextensible hand joints, Abnormal... OMIM:227330
Koolen-De Vries Syndrome
Vertebral fusion, Prominent metopic ridge, Sacral dimple, Pectus excavatum, Kyphosis, Hip disloca... OMIM:610443
Kabuki Syndrome
Vertebral clefting, Hemivertebrae, Hip dislocation, Abnormal form of the vertebral bodies, Joint ... ORPHA:2322
Ulna Metaphyseal Dysplasia Syndrome
Delayed skeletal maturation, Abnormal form of the vertebral bodies ORPHA:1837
Oeis Complex
11 pairs of ribs, Absence of the sacrum, Congenital hip dislocation, Sacral segmentation defect, ... OMIM:258040
Cole-Carpenter Syndrome 2
Osteopenia, Wide cranial sutures, Recurrent fractures, Pectus excavatum, Kyphosis, Thin ribs, Pla... OMIM:616294
Chromosome 8Q22.1 Duplication Syndrome
Enlarged interphalangeal joints, Genu recurvatum, Interphalangeal joint contracture of finger, Jo... OMIM:151200
Intellectual Developmental Disorder, Autosomal Dominant 52
Scapular winging, Lumbar hyperlordosis, Pectus carinatum, Lumbar scoliosis, Cervical C2/C3 verteb... OMIM:617796
Mucopolysaccharidosis, Type Iiic
Thickened ribs, Kyphoscoliosis, Joint stiffness, Ovoid thoracolumbar vertebrae, Beaking of verteb... OMIM:252930
Achondrogenesis, Type Ia
Barrel-shaped chest, Hypoplastic sacrum, Hypoplastic scapulae, Short neck, Beaded ribs, Abnormal ... OMIM:200600
Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis
Cervical C2/C3 vertebral fusion, Joint hypermobility, Camptodactyly OMIM:617333
Camptodactyly Syndrome, Guadalajara Type 1
Sacral dimple, Scapular winging, Camptodactyly of finger, Pectus excavatum, Delayed skeletal matu... ORPHA:1327
Dysosteosclerosis
Osteopenia, Sclerosis of hand bone, Delayed closure of the anterior fontanelle, Sclerotic scapula... OMIM:224300
10Q22.3Q23.3 Microduplication Syndrome
Abnormal clavicle morphology, Abnormal rib morphology ORPHA:276422
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Joint hyperflexibility, Decreased calvarial ossification, Abnormal rib morphology, Recurrent frac... ORPHA:2772
Fibrochondrogenesis 1
Hypoplastic scapulae, Long clavicles, Anterior rib cupping, Thoracic hypoplasia, Short neck, Thin... OMIM:228520
Mosaic Trisomy 8
Camptodactyly of finger, Short neck, Patellar aplasia, Limitation of joint mobility, Abnormal rib... ORPHA:96061
Thin Ribs-Tubular Bones-Dysmorphism Syndrome
Abnormal rib morphology ORPHA:1506
Osteogenesis Imperfecta, Type X
Osteopenia, Joint laxity, Thoracic scoliosis, Multiple rib fractures, Generalized joint laxity, G... OMIM:613848
Brachytelephalangic Chondrodysplasia Punctata
Stippling of the epiphyses of the distal phalanges of the hand, Calcaneal epiphyseal stippling, C... ORPHA:79345
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Vertebral segmentation defect, Abnormal rib morphology ORPHA:1120
Mucopolysaccharidosis Type 6
Ovoid vertebral bodies, Joint stiffness, Short neck, Kyphosis, Genu valgum, Broad ribs ORPHA:583
Camptodactyly, Tall Stature, And Hearing Loss Syndrome
Pectus excavatum, Increased vertebral height, Scoliosis, Camptodactyly, Camptodactyly of toe OMIM:610474
Baller-Gerold Syndrome
Bicoronal synostosis, Limited elbow movement, Sagittal craniosynostosis, Craniosynostosis, Wide a... OMIM:218600
Distal Deletion 17Q
Prominent metopic ridge, Short thorax, Abnormal form of the vertebral bodies ORPHA:1597
Solitary Bone Cyst
Back pain, Pathologic fracture, Bone pain, Abnormal form of the vertebral bodies ORPHA:83468
Thoracic Outlet Syndrome
Abnormal rib morphology ORPHA:97330
Alagille Syndrome
Delayed skeletal maturation, Abnormal rib morphology, Abnormal form of the vertebral bodies, Vert... ORPHA:52
Czech Dysplasia
Flexion contracture, Limitation of joint mobility, Irregular vertebral endplates, Platyspondyly, ... OMIM:609162
Cloacal Exstrophy
Hemivertebrae, Hip dislocation ORPHA:93929
Wolf-Hirschhorn Syndrome
Rib segmentation abnormalities, Vertebral fusion, Sacral dimple, Kyphosis, Delayed skeletal matur... OMIM:194190
Mucopolysaccharidosis, Type Ivb
Joint laxity, Ulnar deviation of the wrist, Ovoid vertebral bodies, Hyperlordosis, Joint stiffnes... OMIM:253010
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Osteopenia, Increased bone mineral density, Wide anterior fontanel, Vertebral arch anomaly, Wormi... ORPHA:85184
Geroderma Osteodysplasticum
Osteopenia, Hyperextensibility of the finger joints, Beaking of vertebral bodies, Recurrent fract... OMIM:231070
Hypophosphatasia
Narrow chest, Abnormal rib morphology, Recurrent fractures, Craniosynostosis ORPHA:436
Frontometaphyseal Dysplasia
Limitation of movement at ankles, Interphalangeal joint contracture of finger, Limited elbow move... ORPHA:1826
Microcephalic Primordial Dwarfism, Toriello Type
Delayed skeletal maturation, Abnormal rib morphology ORPHA:2643
Pelvis-Shoulder Dysplasia
Aplasia/Hypoplasia of the ribs, Aplasia/Hypoplasia of the clavicles, Lumbar hyperlordosis, Long c... ORPHA:2839
Cenani-Lenz Syndrome
Elbow dislocation, Hip dislocation, Abnormal rib morphology, Abnormal form of the vertebral bodie... ORPHA:3258
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome
Cervical C2/C3 vertebral fusion ORPHA:370010
Alagille Syndrome 1
Abnormal rib morphology, Hemivertebrae, Butterfly vertebral arch OMIM:118450
Larsen Syndrome
Large joint dislocations, Craniosynostosis, Accessory carpal bones, Joint hyperflexibility, Verte... ORPHA:503
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome
Joint stiffness, Kyphosis, Abnormality of the elbow, Hip dislocation, Vertebral segmentation defe... ORPHA:1005
Bent Bone Dysplasia Syndrome 2
Osteopenia, Short neck, Thin ribs, Coronal cleft vertebrae, Decreased calvarial ossification, Pla... OMIM:620076
Mucolipidosis Iii Alpha/Beta
Craniosynostosis, Irregular carpal bones, Short ribs, Scoliosis, Broad ribs, Shallow acetabular f... OMIM:252600
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome
Hyperlordosis, Delayed skeletal maturation, Limitation of joint mobility, Abnormal rib morphology... ORPHA:3068
Sialidosis Type 1
Kyphosis, Delayed skeletal maturation, Short thorax, Abnormal form of the vertebral bodies, Pectu... ORPHA:812
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Abnormally ossified vertebrae, Abnormal rib morphology ORPHA:3035
Trisomy 10P
Abnormal hip joint morphology, Wide cranial sutures, Hemivertebrae, Camptodactyly ORPHA:171929
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome
Pectus carinatum, Kyphosis, Abnormal rib morphology, Short neck ORPHA:3082
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Osteopenia, Arthropathy, Sclerotic cranial sutures, Osteolysis involving bones of the upper limbs... ORPHA:371428
Sifrim-Hitz-Weiss Syndrome
Wormian bones, Fused cervical vertebrae, Short clavicles, Flat acetabular roof OMIM:617159
Cardiospondylocarpofacial Syndrome
Abnormal form of the vertebral bodies, Synostosis of carpal bones ORPHA:3238
Holzgreve Syndrome
Abnormally ossified vertebrae, Abnormal rib morphology, Joint stiffness ORPHA:2167
Gm1-Gangliosidosis, Type I
Thickened ribs, Short neck, Joint stiffness, Kyphosis, Hypoplastic vertebral bodies, Scoliosis, B... OMIM:230500
Familial Osteodysplasia, Anderson Type
Recurrent fractures, Aplastic clavicle, Missing ribs, Elbow dislocation, Kyphosis, Abnormal rib m... ORPHA:2769
9Q21.13 Microdeletion Syndrome
Craniosynostosis, Vertebral segmentation defect, Scoliosis ORPHA:531151
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Lumbar hyperlordosis, Kyphoscoliosis, Sagittal craniosynostosis, Hemivertebrae, Hyperextensible h... ORPHA:500150
Spondylometaphyseal Dysplasia, Algerian Type
Lumbar hyperlordosis, Anterior rib cupping, Kyphoscoliosis, Genu valgum, Platyspondyly, Carpal bo... OMIM:184253
Nivelon-Nivelon-Mabille Syndrome
Bell-shaped thorax, Trapezoidal vertebral body, Distal clavicular thinning, Narrow chest OMIM:600092
Rhizomelic Dysplasia, Patterson-Lowry Type
Genu valgum, Abnormal form of the vertebral bodies, Hyperlordosis ORPHA:2831
Craniometadiaphyseal Dysplasia
Osteopenia, Wide anterior fontanel, Genu valgum, Sclerosis of skull base, Broad ribs, Scoliosis, ... OMIM:269300
Cantú Syndrome
Ovoid vertebral bodies, Accelerated skeletal maturation, Short neck, Delayed skeletal maturation,... ORPHA:1517
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly
Joint dislocation, Thoracolumbar scoliosis, Ovoid vertebral bodies, Hyperlordosis, Thoracic platy... OMIM:618019
Holoprosencephaly 13, X-Linked
Thoracic hemivertebrae, Vertebral clefting, Butterfly vertebrae OMIM:301043
Anophthalmia Plus Syndrome
Vertebral segmentation defect ORPHA:1104
Deeah Syndrome
Cervical hemivertebrae, Short neck, Delayed skeletal maturation, Scoliosis, C1-C2 subluxation OMIM:619004
Shashi-Pena Syndrome
Accelerated skeletal maturation, Kyphosis, Osteoporosis, Scoliosis, Cervical C2/C3 vertebral fusion OMIM:617190
Acrofacial Dysostosis, Rodríguez Type
Radioulnar synostosis, Abnormal form of the vertebral bodies, Sprengel anomaly ORPHA:1788
Myhre Syndrome
Vertebral fusion, Short neck, Joint stiffness, Limitation of joint mobility, Enlarged vertebral p... OMIM:139210
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness
Joint laxity, Lumbar hyperlordosis, Cupped ribs, Flat glenoid fossa, Genu valgum, Irregular chond... OMIM:250420
Cat-Eye Syndrome
Abnormal rib morphology ORPHA:195
Achondrogenesis, Type Ii
Barrel-shaped chest, Absent vertebral body mineralization, Short ribs, Horizontal ribs OMIM:200610
Tibial Hemimelia
Tarsal synostosis, Hemivertebrae, Hip dislocation, Knee flexion contracture, Increased laxity of ... ORPHA:93322
Schneckenbecken Dysplasia
Hypoplastic scapulae, Accelerated skeletal maturation, Short neck, Lateral clavicle hook, Advance... ORPHA:3144
1P36 Deletion Syndrome
11 pairs of ribs, Camptodactyly of finger, Joint stiffness, Kyphosis, Rib fusion, Spinal canal st... ORPHA:1606
Ossification Anomalies-Psychomotor Developmental Delay Syndrome
Abnormal thorax morphology, Abnormal form of the vertebral bodies, Thin ribs, Narrow chest, Abnor... ORPHA:73230
Simpson-Golabi-Behmel Syndrome
Vertebral fusion, Congenital hip dislocation, Camptodactyly of finger, Accelerated skeletal matur... ORPHA:373
Charge Syndrome
Abnormal rib morphology, Hemivertebrae, Abnormality of bone mineral density, Scoliosis ORPHA:138
Greenberg Dysplasia
Beaded ribs, Multiple prenatal fractures, Patchy variation in bone mineral density, Hypoplastic v... OMIM:215140
Diphallia
Hemivertebrae, Butterfly vertebrae, Scoliosis ORPHA:227
Osteoporosis-Pseudoglioma Syndrome
Osteopenia, Barrel-shaped chest, Recurrent fractures, Kyphoscoliosis, Kyphosis, Osteoporosis, Inc... OMIM:259770
Acromesomelic Dysplasia 1
Joint laxity, Lumbar hyperlordosis, Ovoid vertebral bodies, Thoracolumbar interpediculate narrown... OMIM:602875
Sacral Agenesis With Vertebral Anomalies
Absence of the sacrum, Vertebral clefting, Abnormal vertebral morphology OMIM:615709
Spondylometaphyseal Dysplasia, Sedaghatian Type
Abnormal scapula morphology, Accelerated skeletal maturation, Delayed skeletal maturation, Abnorm... ORPHA:93317
Duane Retraction Syndrome
Short neck, Spina bifida occulta, Abnormal form of the vertebral bodies, Camptodactyly, Abnormal ... ORPHA:233
Acrofacial Dysostosis, Palagonia Type
Short neck, Delayed skeletal maturation, Abnormal form of the vertebral bodies, Scoliosis, Spina ... ORPHA:1787
Isolated Posterior Meningocele
Thoracic hemivertebrae ORPHA:268810
Renpenning Syndrome
Pectus excavatum, Sprengel anomaly, Abnormal rib morphology, Joint stiffness ORPHA:3242
Codas Syndrome
Congenital hip dislocation, Delayed skeletal maturation, Abnormal form of the vertebral bodies, C... ORPHA:1458
Antley-Bixler Syndrome
Camptodactyly of finger, Recurrent fractures, Craniosynostosis, Joint stiffness, Abnormal rib mor... ORPHA:83
Scarf Syndrome
Craniosynostosis, Short neck, Abnormal form of the vertebral bodies, Pectus carinatum, Joint hype... ORPHA:3134
Paget Disease Of Bone 2, Early-Onset
Sandwich appearance of vertebral bodies, Fractures of the long bones, Bone pain, Osteolysis, Incr... OMIM:602080
Cleidocranial Dysplasia
Hypoplastic scapulae, Recurrent fractures, Down-sloping shoulders, Abnormal sacrum morphology, Sp... ORPHA:1452
Fanconi Anemia, Complementation Group I
Fused cervical vertebrae, Short neck OMIM:609053
Arnold-Chiari Malformation Type I
Stiff neck, Fused cervical vertebrae, Scoliosis, Cervical C2/C3 vertebral fusion, Anteriorly plac... ORPHA:268882
Doors Syndrome
11 pairs of ribs, Sagittal craniosynostosis, Hemivertebrae, Lumbar scoliosis, Spina bifida occulta ORPHA:79500
Weismann-Netter Syndrome
Kyphosis, Scoliosis, Abnormal form of the vertebral bodies ORPHA:3344
Pyknoachondrogenesis
Abnormal intramembranous ossification, Short thorax, Poorly ossified vertebrae, Enlarged thorax, ... ORPHA:3003
Vacterl/Vater Association
Vertebral segmentation defect, Abnormal intervertebral disk morphology, Abnormal rib morphology, ... ORPHA:887
Lateral Meningocele Syndrome
Prominent metopic ridge, Hyperlordosis, Short neck, Kyphosis, Pectus excavatum, Abnormal form of ... ORPHA:2789
Osteogenesis Imperfecta, Type Vii
Osteopenia, Multiple rib fractures, Wide cranial sutures, Recurrent fractures, Protrusio acetabul... OMIM:610682
Chromosome 1Q41-Q42 Deletion Syndrome
Pectus excavatum, Vertebral segmentation defect, Scoliosis OMIM:612530
Fountain Syndrome
Pectus excavatum, Kyphosis, Abnormal form of the vertebral bodies, Scoliosis, Spina bifida occulta ORPHA:3219
Kyphomelic Dysplasia
Anterior rib cupping, Lateral clavicle hook, Limitation of joint mobility, Undulate ribs, Flat ac... OMIM:211350
X-Linked Hypophosphatemia
Craniosynostosis, Beaded ribs, Generalized osteosclerosis, Sacroiliac joint synovitis, Limitation... ORPHA:89936
Campomelia, Cumming Type
Abnormal thorax morphology, Abnormally ossified vertebrae, Abnormal rib morphology ORPHA:1318
Radio-Renal Syndrome
Abnormality of the elbow, Abnormal rib morphology, Abnormal form of the vertebral bodies, Short neck ORPHA:3015
Craniosynostosis, Herrmann-Opitz Type
Abnormal rib morphology, Craniosynostosis ORPHA:2145
Diabetic Embryopathy
Vertebral segmentation defect, Abnormal sacrum morphology ORPHA:1926
Scarf Syndrome
Barrel-shaped chest, Short neck, Abnormal form of the vertebral bodies, Pectus carinatum, Short s... OMIM:312830
Apert Syndrome
Sagittal craniosynostosis, Limited elbow movement, Craniosynostosis, Delayed epiphyseal ossificat... OMIM:101200
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome
Hip contracture, Pectus excavatum, Kyphosis, Flexion contracture, Osteolysis, Abnormal form of th... ORPHA:3042
Occipital Horn Syndrome
Joint laxity, Persistent open anterior fontanelle, Broad clavicles, Pectus excavatum, Capitate-ha... OMIM:304150
Chromosome 1P36 Deletion Syndrome, Distal
11 pairs of ribs, Camptodactyly of finger, Delayed closure of the anterior fontanelle, Wide anter... OMIM:607872
Trisomy 20P
Camptodactyly of finger, Short neck, Kyphosis, Abnormal form of the vertebral bodies, Reduced bon... ORPHA:261318
Crouzon Syndrome-Acanthosis Nigricans Syndrome
Abnormal sacrum morphology, Abnormal form of the vertebral bodies ORPHA:93262
Duane-Radial Ray Syndrome
Fused cervical vertebrae, Shoulder dislocation, Spina bifida occulta, Scoliosis OMIM:607323
Fetal Alcohol Syndrome
Vertebral segmentation defect, Joint stiffness ORPHA:1915
Jung Syndrome
Abnormal form of the vertebral bodies ORPHA:2321
Cartilage-Hair Hypoplasia
Abnormally ossified vertebrae, Biconvex vertebral bodies, Sacral dimple, Flaring of lower rib cag... ORPHA:175
Peters-Plus Syndrome
Joint laxity, Limited elbow movement, Short neck, Craniosynostosis, Pectus excavatum, Wide anteri... OMIM:261540
Shprintzen-Goldberg Syndrome
Osteopenia, Camptodactyly of finger, Craniosynostosis, Joint stiffness, Elbow dislocation, Pectus... ORPHA:2462
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Tarsal synostosis, Craniosynostosis, Humeroradial synostosis, Hemivertebrae, Radioulnar synostosi... OMIM:201750
Verloove Vanhorick-Brubakk Syndrome
Tarsal synostosis, Abnormal form of the vertebral bodies ORPHA:3429
Pallister-Hall Syndrome
Radial head subluxation, Hemivertebrae, Rib fusion, Hip dislocation, Distal arthrogryposis ORPHA:672
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
Short neck, Delayed proximal femoral epiphyseal ossification, Flexion contracture, Irregular vert... OMIM:271640
Acro-Renal-Ocular Syndrome
Vertebral fusion, Vertebral segmentation defect ORPHA:959
Faundes-Banka Syndrome
Lumbar hemivertebrae, Joint hypermobility, Flexion contracture of toe OMIM:619376
Frontometaphyseal Dysplasia 2
Hip contracture, Congenital hip dislocation, Elbow contracture, Pectus excavatum, Fused cervical ... OMIM:617137
Trisomy 13
Kyphosis, Abnormal rib morphology, Narrow chest, Scoliosis ORPHA:3378
Tetraamelia-Multiple Malformations Syndrome
Abnormally ossified vertebrae, Abnormal rib morphology, Missing ribs ORPHA:3301
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Broad ribs, Abnormal sternum morphology, Abnormal rib morphology, Short ribs ORPHA:2519
Charge Syndrome
Down-sloping shoulders, Radial head subluxation, Abnormal rib morphology, Hemivertebrae, Scoliosis OMIM:214800
Kaposiform Lymphangiomatosis
Abnormal thoracic spine morphology, Abnormal scapula morphology, Fractures of the long bones, Abn... ORPHA:464329
Schwartz-Jampel Syndrome
Short neck, Pectus carinatum, Wrist flexion contracture, Increased bone mineral density, Abnormal... ORPHA:800
Gapo Syndrome
Abnormal clavicle morphology, Delayed skeletal maturation, Abnormal thorax morphology, Abnormal f... ORPHA:2067
Autosomal Dominant Popliteal Pterygium Syndrome
Popliteal pterygium, Abnormal rib morphology, Scoliosis, Joint stiffness ORPHA:1300
Acrocraniofacial Dysostosis
Craniosynostosis, Pectus excavatum, Abnormal form of the vertebral bodies, Genu valgum, Spina bif... ORPHA:949
Hurler Syndrome
Abnormal clavicle morphology, Camptodactyly of finger, Short neck, Limitation of joint mobility, ... ORPHA:93473
Craniofacial Microsomia 1
Block vertebrae, Hemivertebrae, Genu valgum, Cervical ribs, Scoliosis, Vertebral hypoplasia OMIM:164210
Thrombocytopenia-Absent Radius Syndrome
Lateral clavicle hook, Patellar aplasia, Hip dislocation, Abnormal shoulder morphology, Fused cer... OMIM:274000
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Posterior rib fusion, Butterfly vertebrae OMIM:265380
Apert Syndrome
Vertebral segmentation defect, Cervical C5/C6 vertebrae fusion ORPHA:87
Multiple Pterygium-Malignant Hyperthermia Syndrome
Prominent metopic ridge, Camptodactyly of finger, Pectus excavatum, Kyphosis, Abnormal rib morpho... ORPHA:2215
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Long clavicles, Contracture of the distal interphalangeal joint of the fingers, Thin ribs, Cleft ... ORPHA:83617
Osteogenesis Imperfecta
Osteopenia, Cervical kyphosis, Osteoarthritis, Flexion contracture, Bone pain, Abnormal form of t... ORPHA:666
Aspergillosis
Abnormality of the vertebral column, Abnormal rib morphology, Osteomyelitis ORPHA:1163
Monosomy 9Q22.3
Accelerated skeletal maturation, Short neck, Kyphosis, Pectus excavatum, Abnormal rib morphology,... ORPHA:77301
Camptodactyly Syndrome, Guadalajara Type 3
Osteopenia, Short neck, Delayed skeletal maturation, Abnormal rib morphology, Spina bifida occulta ORPHA:488434
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Flexion contracture, Narrow chest, Abnormality of the wrist, Elbow ankylosis, Abnormal vertebral ... ORPHA:95699
Mucopolysaccharidosis Type 1
Joint dislocation, Joint stiffness, Spinal canal stenosis, Abnormal form of the vertebral bodies,... ORPHA:579
2Q31.1 Microdeletion Syndrome
Prominent metopic ridge, Camptodactyly of finger, Short neck, Kyphosis, Delayed skeletal maturati... ORPHA:251014
Fibrous Dysplasia Of Bone
Abnormal clavicle morphology, Osteomalacia, Bone pain, Rickets, Osteolysis, Abnormal rib morpholo... ORPHA:249
Meier-Gorlin Syndrome 7
Joint laxity, Sagittal craniosynostosis, Craniosynostosis, Aplasia/Hypoplasia of the patella, Wid... OMIM:617063
Au-Kline Syndrome
Prominent metopic ridge, Sacral dimple, Thoracolumbar scoliosis, Sagittal craniosynostosis, Crani... OMIM:616580
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Vertebral segmentation defect, Missing ribs ORPHA:3186
Oculocerebrocutaneous Syndrome
Congenital hip dislocation, Abnormal rib morphology, Missing ribs ORPHA:1647
Chromosome 16P13.3 Duplication Syndrome
Sacral dimple, Short neck, Pectus excavatum, Hip dislocation, Cervical C5/C6 vertebrae fusion, Ca... OMIM:613458
Chops Syndrome
Tracheomalacia, Cervical C2/C3 vertebral fusion OMIM:616368
Distal Deletion 6P
Vertebral segmentation defect, Scoliosis ORPHA:96125
Trisomy 1Q
Short thorax, Abnormal rib morphology, Camptodactyly of finger ORPHA:261344
Linear Nevus Sebaceus Syndrome
Vertebral segmentation defect, Genu recurvatum ORPHA:2612
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Osteopenia, Prominent metopic ridge, Craniosynostosis, Vertebral segmentation defect, Scoliosis ORPHA:453499
Heterotaxy, Visceral, 1, X-Linked
Absence of the sacrum, Congenital hip dislocation, Block vertebrae OMIM:306955
Marden-Walker Syndrome
Camptodactyly of finger, Joint stiffness, Pectus excavatum, Kyphosis, Abnormal form of the verteb... ORPHA:2461
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Osteopenia, Joint laxity, Prominent metopic ridge, Sagittal craniosynostosis, Craniosynostosis, V... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Osteopenia, Joint laxity, Prominent metopic ridge, Sagittal craniosynostosis, Craniosynostosis, V... ORPHA:352665
Mucopolysaccharidosis Type 3
Abnormal clavicle morphology, Joint stiffness, Avascular necrosis of the capital femoral epiphysi... ORPHA:581
Feingold Syndrome
Abnormal form of the vertebral bodies ORPHA:1305
Myhre Syndrome
Platyspondyly, Abnormal rib morphology, Joint stiffness ORPHA:2588
Stickler Syndrome
Joint dislocation, Protrusio acetabuli, Kyphosis, Osteoarthritis, Bone pain, Spinal canal stenosi... ORPHA:828
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Wormian bones, Tracheomalacia, Cervical C2/C3 vertebral fusion, Abnormal vertebral morphology, Hi... ORPHA:444077
Opitz Gbbb Syndrome
Prominent metopic ridge, Craniosynostosis, Vertebral segmentation defect, Tracheomalacia ORPHA:2745
Dextrocardia
Congenital hip dislocation, Abnormal rib morphology ORPHA:1666
Elsahy-Waters Syndrome
Pectus excavatum, Cervical C2/C3 vertebral fusion OMIM:211380
Generalized Arterial Calcification Of Infancy
Abnormality of the knee, Osteomalacia, Stippled calcification of the shoulder, Abnormal calcifica... ORPHA:51608
Ulbright-Hodes Syndrome
Short neck, Humeroradial synostosis, Abnormal rib morphology, Ovoid thoracolumbar vertebrae, Thin... ORPHA:3404
Monosomy 9P
Short neck, Limitation of joint mobility, Abnormal rib morphology, Abnormality of the vertebral c... ORPHA:261112
Williams Syndrome
Osteopenia, Abnormal form of the vertebral bodies, Vertebral segmentation defect, Spina bifida oc... ORPHA:904
Ear-Patella-Short Stature Syndrome
Camptodactyly of finger, Craniosynostosis, Aplastic clavicle, Elbow dislocation, Delayed skeletal... ORPHA:2554
Microphthalmia With Limb Anomalies
Tarsal synostosis, Elbow dislocation, Hip dislocation, Abnormal form of the vertebral bodies, Joi... ORPHA:1106
Vater/Vacterl Association
Abnormal rib morphology, Radioulnar synostosis, Abnormal sternum morphology, Scoliosis, Abnormal ... OMIM:192350
Oculocerebrorenal Syndrome Of Lowe
Recurrent fractures, Osteomalacia, Joint stiffness, Kyphosis, Hip dislocation, Abnormal rib morph... ORPHA:534
Simpson-Golabi-Behmel Syndrome, Type 1
Accelerated skeletal maturation, Pectus excavatum, Pectus carinatum, Vertebral segmentation defec... OMIM:312870
Autosomal Recessive Malignant Osteopetrosis
Recurrent fractures, Craniosynostosis, Bone pain, Abnormal rib morphology, Reduced bone mineral d... ORPHA:667
Smith-Lemli-Opitz Syndrome
Short neck, Kyphosis, Hip dislocation, Abnormal rib morphology, Abnormal form of the vertebral bo... ORPHA:818
Hereditary Acrokeratotic Poikiloderma
Joint hyperflexibility, Abnormal rib morphology, Camptodactyly of finger ORPHA:2907
Trisomy 18
Delayed skeletal maturation, Abnormal rib morphology, Camptodactyly of finger ORPHA:3380
Kindler Epidermolysis Bullosa
Flexion contracture, Abnormal rib morphology, Camptodactyly of finger ORPHA:2908
Pagod Syndrome
Abnormal clavicle morphology, Abnormal rib morphology ORPHA:991
Fraser Syndrome
Vertebral segmentation defect ORPHA:2052
Townes-Brocks Syndrome
Abnormal rib morphology, Abnormal vertebral morphology ORPHA:857

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Meox1

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Meox1.

No publications found that use IMPC mice or data for Meox1.

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