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Gene: Mesp2 MGI:1096325

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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:
mesoderm posterior 2
Synonyms:
bHLHc6

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 Mesp2 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 Mesp2 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Spondylocostal Dysostosis 2, Autosomal Recessive
Short neck, Vertebral clefting, Rib fusion, Hemivertebrae, Vertebral segmentation defect OMIM:608681
Autosomal Recessive Spondylocostal Dysostosis
Rib segmentation abnormalities, Abnormal intervertebral disk morphology, Camptodactyly of finger,... ORPHA:2311

The table below shows human diseases predicted to be associated to Mesp2 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Cervical Vertebral Bridge
Abnormality of the vertebral column OMIM:118000
Cervical Rib
Cervical ribs OMIM:117900
Hypertrophy Of The Breast, Juvenile
Abnormal thorax morphology OMIM:113670
Cervical Vertebral Dysplasia
Cervical vertebral dysplasia, Cervical vertebral facet hypoplasia, Anterior atlanto-occipital dis... OMIM:118005
Scheuermann Disease
Kyphosis, Osteochondrosis, Morbus Scheuermann OMIM:181440
Vertebral Fusion, Posterior Lumbosacral, With Blepharoptosis
Posterior fusion of lumbosacral vertebrae OMIM:192800
Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome
Sacral dimple, Tarsal synostosis, Joint stiffness, Abnormal form of the vertebral bodies, Posteri... ORPHA:2064
Spondylocostal Dysostosis 2, Autosomal Recessive
Short neck, Vertebral clefting, Rib fusion, Hemivertebrae, Vertebral segmentation defect OMIM:608681
Dwarfism With Tall Vertebrae
Increased vertebral height OMIM:126950
Spondylocostal Dysostosis 3, Autosomal Recessive
Kyphosis, Hypoplasia of the odontoid process, Rib fusion, Vertebral segmentation defect, Scoliosi... OMIM:609813
Isolated Klippel-Feil Syndrome
Congenital muscular torticollis, Spina bifida, Short neck, Abnormal sacrum morphology, Abnormal r... ORPHA:2345
Microcephaly With Cervical Spine Fusion Anomalies
Vertebral fusion, Spinal instability OMIM:251250
Spondylocostal Dysostosis 5
Vertebral fusion, Low back pain, Missing ribs, Short neck, Hemivertebrae, Pectus carinatum, Poste... OMIM:122600
Spondylocostal Dysostosis 1, Autosomal Recessive
Back pain, Death in infancy, Vertebral fusion, Block vertebrae, Abnormal odontoid process morphol... OMIM:277300
Spondylocostal Dysostosis 6, Autosomal Recessive
Cervical kyphosis, Hemivertebrae, Spinal canal stenosis, Scoliosis, Butterfly vertebrae OMIM:616566
Diaphanospondylodysostosis
Short neck, Missing ribs, Myelomeningocele, Short thorax, Enlarged thorax, Absent or minimally os... ORPHA:66637
Brachyolmia, Maroteaux Type
Pectus excavatum, Short thorax, Abnormal form of the vertebral bodies, Platyspondyly, Scoliosis ORPHA:93302
Primary Basilar Invagination
Abnormality of the cervical spine, Abnormal vertebral morphology, Short neck ORPHA:2285
Wildervanck Syndrome
Facial palsy, Short neck, Meningocele, Fused cervical vertebrae, Pseudopapilledema ORPHA:3456
Sprengel Deformity
Rib segmentation abnormalities, Cervical segmentation defect, Hemivertebrae, Scoliosis, Sprengel ... OMIM:184400
Autosomal Dominant Brachyolmia
Increased vertebral height, Platyspondyly, Short thorax, Kyphoscoliosis ORPHA:93304
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Delayed skeletal maturation, Abnormality of the elbow, Abnormal rib morphology, Pectus carinatum,... ORPHA:3268
Klippel-Feil Syndrome 3, Autosomal Dominant
Thoracic scoliosis, Cervical C3/C4 vertebral fusion, Cervical C5/C6 vertebrae fusion OMIM:613702
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
Autosomal Dominant Spondylocostal Dysostosis
Hyperlordosis, Short neck, Missing ribs, Abnormal sacrum morphology, Short thorax, Abnormal rib m... ORPHA:1797
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods
Fusion of midcervical facet joints, Cervical vertebral bodies with decreased anteroposterior diam... OMIM:606842
Ankylosing Vertebral Hyperostosis With Tylosis
Vertebral hyperostosis OMIM:106400
Vertebral Hypoplasia With Lumbar Kyphosis
Vertebral hypoplasia, Lumbar kyphosis OMIM:192900
Second Metatarsal-Metacarpal Syndrome
Platyspondyly, Synostosis of carpals/tarsals OMIM:269630
Spondylocostal Dysostosis 4, Autosomal Recessive
Vertebral fusion, Abnormal odontoid process morphology, Block vertebrae, Short neck, Missing ribs... OMIM:613686
Poland Syndrome
Unilateral absence of pectoralis major muscle, Unilateral hypoplasia of pectoralis major muscle, ... OMIM:173800
Osteoarthritis With Mild Chondrodysplasia
Heberden's node, Joint stiffness, Knee osteoarthritis, Schmorl's node, Irregular vertebral endpla... OMIM:604864
Spondylocamptodactyly Syndrome
Platyspondyly, Camptodactyly of finger, Scoliosis ORPHA:3180
Neurogenic Thoracic Outlet Syndrome
Abnormal rib morphology ORPHA:100073
Spondylometaphyseal Dysplasia, Corner Fracture Type
Ovoid vertebral bodies, Hypoplasia of the odontoid process, Pectus carinatum, Hyperconvex vertebr... OMIM:184255
Galactosialidosis
Abnormality of the vertebral column, Abnormal vertebral morphology ORPHA:351
Spondyloepiphyseal Dysplasia Tarda, Kohn Type
Abnormality of the knee, Restricted large joint movement, Platyspondyly, Abnormality of the ankle... ORPHA:163665
Dental Anomalies And Short Stature
Platyspondyly, Herniation of intervertebral nuclei, Scoliosis, Narrow vertebral interpedicular di... OMIM:601216
Thoracomelic Dysplasia
Bell-shaped thorax, Short ribs OMIM:273740
Acromesomelic Dysplasia, Maroteaux Type
Ovoid vertebral bodies, Hyperlordosis, Joint stiffness, Kyphosis, Abnormal form of the vertebral ... ORPHA:40
Thoracic Dysostosis, Isolated
Pectus excavatum, Short ribs, Bell-shaped thorax OMIM:187750
Becker Nevus Syndrome
Pectus excavatum, Kyphosis, Rib fusion, Pectus carinatum, Supernumerary ribs, Scoliosis, Spina bi... ORPHA:64755
Spondylosis, Cervical
Osteoarthritis, Cervical spondylosis, Spondylolysis, Spina bifida occulta, Spondylolisthesis OMIM:184300
Klippel-Feil Syndrome 2, Autosomal Recessive
Short neck, Fused cervical vertebrae, Scoliosis, Cervical C2/C3 vertebral fusion, Sprengel anomaly OMIM:214300
Autosomal Recessive Spondylocostal Dysostosis
Rib segmentation abnormalities, Abnormal intervertebral disk morphology, Camptodactyly of finger,... ORPHA:2311
Kyphomelic Dysplasia
Anterior rib cupping, Missing ribs, Lateral clavicle hook, Joint stiffness, Short thorax, Limitat... ORPHA:1801
Spondyloepiphyseal Dysplasia, Maroteaux Type
Platyspondyly, Genu valgum OMIM:184095
Wildervanck Syndrome
Fused cervical vertebrae, Pseudopapilledema OMIM:314600
Heart Defects-Limb Shortening Syndrome
Accelerated skeletal maturation, Kyphosis, Abnormal rib morphology, Abnormal form of the vertebra... ORPHA:1354
Endosteal Hyperostosis, Worth Type
Sclerotic vertebral body, Generalized osteosclerosis, Abnormal rib morphology, Abnormal form of t... ORPHA:2790
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B
Fused thoracic vertebrae, Tarsal synostosis, Short neck, Flexion contracture, Antecubital pterygi... OMIM:618469
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Abnormal clavicle morphology, Hyperlordosis, Spinal cord compression, Kyphosis, Short neck, Pectu... ORPHA:2522
Acrodysplasia Scoliosis
Vertebral segmentation defect, Spina bifida occulta, Scoliosis ORPHA:2956
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome
Fused cervical vertebrae, Abnormal sacrum morphology, Thoracic hemivertebrae, Scoliosis ORPHA:1436
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type
Lumbar hyperlordosis, Decreased hip abduction, Pectus carinatum, Genu valgum, Irregular vertebral... OMIM:609223
Spondyloepiphyseal Dysplasia Tarda With Mental Retardation
Platyspondyly, Anterior beaking of lumbar vertebrae OMIM:271620
Mental Retardation, Skeletal Dysplasia, And Abducens Palsy
Fused cervical vertebrae, Prominent metopic ridge, Thoracic hemivertebrae, Scoliosis OMIM:309620
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Superior rib anomalies, Abnormality of the cervical spine OMIM:307500
Nevus Comedonicus Syndrome
Spina bifida occulta, Abnormal vertebral morphology, Scoliosis, Spina bifida ORPHA:64754
Spondylometaphyseal Dysplasia, A4 Type
Platyspondyly, Limitation of joint mobility, Flared, irregular rib ends ORPHA:168555
Lethal Congenital Contracture Syndrome 3
Neonatal death, Arthrogryposis multiplex congenita, Multiple joint contractures OMIM:611369
Becker Nevus Syndrome
Pectus excavatum, Cervical ribs, Hemivertebrae, Scoliosis OMIM:604919
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Vertebral fusion, Sacral dimple, Short thorax, Vertebral segmentation defect OMIM:618845
Klippel-Feil Syndrome 1, Autosomal Dominant
Congenital muscular torticollis, Short neck, Abnormal rib morphology, Scoliosis, Cervical C2/C3 v... OMIM:118100
Caudal Duplication
Spina bifida, Abnormal sacrum morphology, Myelomeningocele, Bifid sacrum, Spinal cord lesion, Ver... ORPHA:1756
Osteogenesis Imperfecta, Type Ix
Recurrent fractures, Beaded ribs, Pectus excavatum, Kyphosis, Multiple prenatal fractures, Pectus... OMIM:259440
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Vertebral fusion, Skeletal muscle atrophy, Elbow contracture, Facial palsy, Hyperlordosis, Kyphos... OMIM:606612
Kniest Dysplasia
Arthropathy, Enlarged joints, Short neck, Spinal cord compression, Hypoplasia of the odontoid pro... ORPHA:485
Brachyolmia Type 2
Platyspondyly OMIM:613678
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases
Small hypothenar eminence, Spina bifida, Small thenar eminence, Camptodactyly, Joint contracture ... OMIM:211960
Arnold-Chiari Malformation Type I
Abnormality of the musculature of the lower limbs, Stiff neck, Myelopathy, Cranial nerve compress... ORPHA:268882
Thoracolaryngopelvic Dysplasia
Irregular chondrocostal junctions, Bell-shaped thorax, Irregular vertebral endplates, Short ribs,... OMIM:187760
Kuskokwim Syndrome
Abnormal clavicle morphology, Aplasia/Hypoplasia of the patella, Joint stiffness, Abnormal form o... ORPHA:1149
Acropectorovertebral Dysplasia
Capitate-hamate fusion, Abnormal thorax morphology, Spina bifida occulta at S1, Spina bifida occu... OMIM:102510
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism
Thoracolumbar scoliosis, Short neck, Flexion contracture, Myopathy, Cervical C2/C3 vertebral fusi... OMIM:616549
Osteogenesis Imperfecta, Type Vi
Joint laxity, Protrusio acetabuli, Vertebral compression fracture, Increased susceptibility to fr... OMIM:613982
Familial Congenital Mirror Movements
Fused cervical vertebrae ORPHA:238722
Metatropic Dysplasia
Abnormal intervertebral disk morphology, Camptodactyly of finger, Abnormal enchondral ossificatio... ORPHA:2635
Hypochondroplasia
Widened interpedicular distance, Lumbar hyperlordosis OMIM:146000
Mesomelic Dysplasia, Kantaputra Type
Camptodactyly of finger, Tarsal synostosis, Abnormal rib morphology, Vertebral segmentation defec... ORPHA:1836
Camptodactyly Syndrome, Guadalajara Type 1
Sacral dimple, Scapular winging, Camptodactyly of finger, Spina bifida, Pectus excavatum, Delayed... ORPHA:1327
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome
Abnormal rib morphology ORPHA:2435
Atelosteogenesis, Type I
Encephalocele, 11 pairs of ribs, Long clavicles, Short neck, Thoracic platyspondyly, Elbow disloc... OMIM:108720
Acropectorovertebral Dysplasia
Camptodactyly of finger, Tarsal synostosis, Spina bifida, Pectus excavatum, Synostosis of carpal ... ORPHA:957
Lamb-Shaffer Syndrome
Fused cervical vertebrae, Optic atrophy, Thoracic kyphosis, Scoliosis ORPHA:530983
Osteogenesis Imperfecta, Type Xv
Recurrent fractures, Thin ribs, Platyspondyly, Bowing of limbs due to multiple fractures, Scolios... OMIM:615220
Multiple Pterygium Syndrome, Escobar Variant
Multiple joint contractures, Congenital diaphragmatic hernia, Short neck, Flexion contracture, Kn... OMIM:265000
Frontometaphyseal Dysplasia 1
Skeletal muscle atrophy, Limited elbow movement, Knee flexion contracture, Increased density of l... OMIM:305620
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A
Barrel-shaped chest, Vertebral fusion, Hip contracture, Elbow contracture, Multiple pterygia, Sho... OMIM:178110
Symphalangism Of Toes
Synostosis involving bones of the toes OMIM:185600
Symbrachydactyly Of Hands And Feet
Vertebral segmentation defect, Abnormality of the humeroulnar joint, Scoliosis ORPHA:1570
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Pectus excavatum, Fused cervical vertebrae, Sprengel anomaly, Spina bifida occulta, Butterfly ver... OMIM:619227
Developmental And Speech Delay Due To Sox5 Deficiency
Vertebral fusion, Thoracic kyphoscoliosis, Lumbar hyperlordosis, Optic atrophy, Pectus carinatum,... ORPHA:313892
Ehlers-Danlos Syndrome, Classic-Like, 2
Osteopenia, Thoracic scoliosis, Short neck, Facet joint arthrosis, Osteoarthritis, Hip dislocatio... OMIM:618000
Femoral-Facial Syndrome
Abnormal sacrum morphology, Abnormal rib morphology, Rib fusion, Radioulnar synostosis, Vertebral... ORPHA:1988
Spinal Dysplasia, Anhalt Type
Osteoarthritis of the small joints of the hand, Thoracolumbar scoliosis, Absent spinous processes... OMIM:601344
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome
Abnormal vertebral morphology, Short neck ORPHA:2015
Brachydactyly, Type B1
Vertebral fusion, Hypoplastic sacrum, Thoracolumbar scoliosis, Wide anterior fontanel, Hemiverteb... OMIM:113000
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Death in infancy, Congenital diaphragmatic hernia, Spina bifida, Abnormal rib morphology, Vertebr... ORPHA:1120
Spondylometaphyseal Dysplasia, Type A4
Ovoid vertebral bodies, Enlargement of the costochondral junction, Flat acetabular roof, Pectus c... OMIM:609052
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2
Vertebral segmentation defect, Abnormal rib morphology, Short neck ORPHA:2578
Spina Bifida-Hypospadias Syndrome
Spina bifida, Spinal dysraphism ORPHA:3176
Bruck Syndrome 1
Joint laxity, Hip contracture, Protrusio acetabuli, Ankle flexion contracture, Kyphosis, Osteopor... OMIM:259450
Ulnar Hemimelia
Glenoid fossa hypoplasia, Limited elbow movement, Osteoarthritis, Abnormal calcification of the c... ORPHA:93320
Verheij Syndrome
Branchial cyst, Vertebral fusion, Joint laxity, Optic nerve hypoplasia, Short neck, Hemivertebrae... OMIM:615583
Ring Chromosome 21 Syndrome
Fused thoracic vertebrae, Abnormal thorax morphology, Holoprosencephaly, Scoliosis, Thoracic hemi... ORPHA:1445
Pelvis-Shoulder Dysplasia
Aplasia/Hypoplasia of the ribs, Aplasia/Hypoplasia of the clavicles, Lumbar hyperlordosis, Long c... ORPHA:2839
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3
Short neck, Irregular vertebral endplates, Platyspondyly, Scoliosis, Narrow vertebral interpedicu... OMIM:618395
Spondyloepimetaphyseal Dysplasia, Shohat Type
Lumbar hyperlordosis, Short neck, Platyspondyly, Scoliosis, Vertebral compression fracture, Narro... OMIM:602557
Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant
Barrel-shaped chest, Lumbar hyperlordosis, Kyphoscoliosis, Short neck, Avascular necrosis of the ... OMIM:184100
Morquio Syndrome C
Platyspondyly OMIM:252300
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Vertebral fusion, Hyperlordosis, Kyphosis, Achilles tendon contracture, Macroglossia, Calf muscle... OMIM:607155
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Vertebral fusion, Block vertebrae, Missing ribs, Short neck, Hemivertebrae, Rib fusion, Thin ribs... OMIM:271520
Lateral Meningocele Syndrome
Vertebral fusion, Decreased muscle mass, Tethered cord, Short neck, Pectus excavatum, Kyphosis, H... OMIM:130720
Anophthalmia Plus Syndrome
Vertebral segmentation defect, Spina bifida ORPHA:1104
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly
Death in infancy, Lateral clavicle hook, Trident acetabulum, Narrow chest, Short ribs, Acetabular... OMIM:617405
Myotonia With Skeletal Abnormalities And Mental Retardation
Kyphoscoliosis, Vertebral wedging, Genu valgum, Bell-shaped thorax, Pectus carinatum OMIM:255710
Maternal Uniparental Disomy Of Chromosome 9
Kyphoscoliosis, Short neck, Hamstring contractures, Patellar dislocation, Osteochondrosis, Abnorm... ORPHA:96183
Spondyloepimetaphyseal Dysplasia, Shohat Type
Hyperlordosis, Short neck, Platyspondyly, Squared-off platyspondyly, Scoliosis, Vertebral compres... ORPHA:93352
Multiple Pterygium Syndrome, X-Linked
Joint dislocation, Vertebral fusion, Abnormal cervical curvature, Multiple pterygia, Flexion cont... OMIM:312150
Neural Tube Defects, Folate-Sensitive
Spinal dysraphism OMIM:601634
Autosomal Recessive Multiple Pterygium Syndrome
Skeletal muscle atrophy, Camptodactyly of finger, Multiple pterygia, Pectus excavatum, Aplasia/Hy... ORPHA:2990
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome
Upper limb muscle weakness, Cervical C2/C3 vertebral fusion ORPHA:370010
Metatropic Dysplasia
Enlarged joints, Flexion contracture, Long coccyx, Narrow chest, Flaring of rib cage, Anisospondy... OMIM:156530
Kbg Syndrome
Vertebral fusion, Persistent open anterior fontanelle, Short neck, Delayed skeletal maturation, T... ORPHA:2332
Dysspondyloenchondromatosis
Joint dislocation, Enlarged joints, Kyphoscoliosis, Osteoarthritis, Generalized joint laxity, Del... ORPHA:85198
Fibrodysplasia Ossificans Progressiva
Small cervical vertebral bodies, Progressive cervical vertebral spine fusion, Ectopic ossificatio... OMIM:135100
Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis
Cervical C2/C3 vertebral fusion, Joint hypermobility, Camptodactyly OMIM:617333
Keratoconus Posticus Circumscriptus
Limited elbow extension and supination, Abnormal vertebral segmentation and fusion, Short neck OMIM:244600
Aplasia Cutis Congenita
Abnormality of bone mineral density, Facial palsy, Spinal dysraphism ORPHA:1114
Congenital Amegakaryocytic Thrombocytopenia
Scoliosis, Abnormal form of the vertebral bodies, Short neck ORPHA:3319
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome
Short neck, Abnormal rib morphology, Hemivertebrae, Abnormal form of the vertebral bodies, Abnorm... ORPHA:2234
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Osteopenia, Osteomyelitis, Osteolysis, Fused cervical vertebrae, Joint swelling, Flaring of rib c... OMIM:612852
Fountain Syndrome
Spina bifida, Pectus excavatum, Kyphosis, Abnormal form of the vertebral bodies, Scoliosis, Spina... ORPHA:3219
Multiple Pterygium Syndrome, Lethal Type
Joint dislocation, Vertebral fusion, Abnormal cervical curvature, Multiple pterygia, Flexion cont... OMIM:253290
Fibrodysplasia Ossificans Progressiva
Spinal rigidity, Limitation of joint mobility, Ectopic ossification in ligament tissue, Ectopic o... ORPHA:337
Frontometaphyseal Dysplasia
Limitation of movement at ankles, Interphalangeal joint contracture of finger, Limited elbow move... ORPHA:1826
Stapes Ankylosis With Broad Thumbs And Toes
Fused cervical vertebrae, Proximal/middle symphalangism of 5th finger OMIM:184460
Cerebrofaciothoracic Dysplasia
Sprengel anomaly, Rib fusion, Narrow chest, Bifid ribs ORPHA:1394
Ophthalmoplegia, External, And Myopia
Spina bifida OMIM:311000
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2
Joint laxity, Congenital hip dislocation, Large joint dislocations, Delayed phalangeal epiphyseal... OMIM:603546
Intellectual Developmental Disorder, Autosomal Dominant 52
Scapular winging, Lumbar hyperlordosis, Pectus carinatum, Lumbar scoliosis, Cervical C2/C3 verteb... OMIM:617796
Spondyloepimetaphyseal Dysplasia, Irapa Type
Lumbar hyperlordosis, Hypoplastic sacrum, Enlargement of the costochondral junction, Osteoarthrit... OMIM:271650
Basal Cell Nevus Syndrome 1
Vertebral fusion, Down-sloping shoulders, Kyphoscoliosis, Spina bifida, Hydrocephalus, Hemiverteb... OMIM:109400
Gorlin Syndrome
Vertebral fusion, Hydrocephalus, Hemivertebrae, Vertebral wedging, Scoliosis ORPHA:377
Greenberg Dysplasia
Abnormally ossified vertebrae, Abnormal pelvis bone ossification, Anterior rib punctate calcifica... ORPHA:1426
Aarskog-Scott Syndrome
Genu recurvatum, Camptodactyly of finger, Short neck, Pectus excavatum, Joint hyperflexibility, U... ORPHA:915
Spondyloepimetaphyseal Dysplasia, Irapa Type
Osteoarthritis, Limitation of joint mobility, Abnormal rib morphology, Abnormal carpal morphology... ORPHA:93351
Frontal Encephalocele
Encephalocele, Hydrocephalus, Spina bifida ORPHA:1931
Nail-Patella Syndrome
Back pain, Biceps aplasia, Lumbar hyperlordosis, Glenoid fossa hypoplasia, Spina bifida, Absence ... OMIM:161200
Chromosome 8Q22.1 Duplication Syndrome
Enlarged interphalangeal joints, Genu recurvatum, Interphalangeal joint contracture of finger, Jo... OMIM:151200
Spondylometaphyseal Dysplasia, Axial
Anterior rib cupping, Platyspondyly, Narrow chest, Scoliosis, Thoracic hypoplasia OMIM:602271
Multiple Epiphyseal Dysplasia Type 5
Back pain, Osteoarthritis of the small joints of the hand, Abnormal acetabulum morphology, Decrea... ORPHA:93311
Mosaic Trisomy 20
Vertebral fusion, Down-sloping shoulders, Kyphosis, Abnormal spinal cord morphology, Spinal canal... ORPHA:1724
Duane-Radial Ray Syndrome
Aganglionic megacolon, Facial palsy, Spina bifida occulta, Fused cervical vertebrae, Shoulder dis... OMIM:607323
Aicardi Syndrome
Block vertebrae, Spina bifida, Missing ribs, Optic disc coloboma, Hemivertebrae, Rib fusion, Opti... OMIM:304050
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome
Vertebral fusion, Congenital muscular torticollis, Elbow dislocation, Kyphosis, Hemivertebrae, Ab... ORPHA:2916
Lethal Congenital Contracture Syndrome Type 1
Recurrent fractures, Short neck, Limitation of joint mobility, Abnormal rib morphology, Abnormali... ORPHA:1486
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Aplasia/Hypoplasia of the ribs, Thoracic scoliosis, Cervical hemivertebrae, Facial palsy, Spina b... ORPHA:508498
Waardenburg Syndrome Type 1
Aganglionic megacolon, Spina bifida, Meningocele, Scoliosis, Sprengel anomaly ORPHA:894
Mayer-Rokitansky-Küster-Hauser Syndrome
Vertebral fusion, Abnormal sacrum morphology, Abnormal form of the vertebral bodies, Vertebral se... ORPHA:3109
Pontine Tegmental Cap Dysplasia
Facial palsy, Rib fusion, Hemivertebrae, Ankle clonus, Scoliosis OMIM:614688
Thrombocytopenia-Absent Radius Syndrome
Aplasia/Hypoplasia of the patella, Hip dislocation, Fused cervical vertebrae, Cervical ribs, Pate... ORPHA:3320
Idiopathic Juvenile Osteoporosis
Recurrent fractures, Kyphosis, Bone pain, Osteoporosis, Vertebral compression fracture ORPHA:85193
Acalvaria
Hydrocephalus, Holoprosencephaly, Spina bifida ORPHA:945
Congenital Disorder Of Glycosylation, Type Iig
Osteopenia, Thoracic scoliosis, Kyphoscoliosis, Short neck, Rib fusion, Posterior rib gap, Verteb... OMIM:611209
Maxillonasal Dysplasia, Binder Type
Patchy distortion of vertebrae, Vertebral clefting OMIM:155050
Schneckenbecken Dysplasia
Ovoid vertebral bodies, Short neck, Platyspondyly, Umbilical hernia, Narrow vertebral interpedicu... OMIM:269250
Amish Lethal Microcephaly
Death in infancy, Spina bifida, Limitation of joint mobility, Osteoporosis, Optic atrophy, Decrea... ORPHA:99742
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
Short neck, Pectus carinatum, Reduced bone mineral density, Abnormal bone ossification, Abnormal ... ORPHA:93315
Czeizel-Losonci Syndrome
Posterolateral diaphragmatic hernia, Thoracolumbar scoliosis, Spina bifida, Hydrocephalus, Myelom... ORPHA:2437
Shashi-Pena Syndrome
Accelerated skeletal maturation, Kyphosis, Osteoporosis, Scoliosis, Cervical C2/C3 vertebral fusi... OMIM:617190
Ophthalmoplegia, External, With Rib And Vertebral Anomalies
Missing ribs, Pectus excavatum, Pectus carinatum, Short ribs, Scoliosis OMIM:618155
Proximal 16P11.2 Microdeletion Syndrome
Craniosynostosis, Congenital diaphragmatic hernia, Rib fusion, Syringomyelia, Scoliosis, Abnormal... ORPHA:261197
Larsen Syndrome
Joint laxity, Vertebral fusion, Cervical kyphosis, Spinal cord compression, Elbow dislocation, Pe... OMIM:150250
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Lumbar hyperlordosis, Cupped ribs, Flat acetabular roof, Irregular vertebral endplates, Platyspon... OMIM:609616
Cerebrocostomandibular Syndrome
Death in infancy, Spina bifida, Tracheomalacia, Kyphosis, Myelomeningocele, Meningocele, Posterio... ORPHA:1393
Diabetic Embryopathy
Hydrocephalus, Aplasia/Hypoplasia of the abdominal wall musculature, Abnormal sacrum morphology, ... ORPHA:1926
Neural Tube Defects, Susceptibility To
Absence of the sacrum, Sacral dimple, Asymmetry of spinal facet joints, Myelomeningocele, Anencep... OMIM:182940
Septopreoptic Holoprosencephaly
Abnormal rib morphology, Abnormal vertebral morphology, Ethmoidal encephalocele ORPHA:280195
Osteogenesis Imperfecta, Type Xviii
Joint laxity, Recurrent fractures, Joint hypermobility, Thin ribs, Biconcave vertebral bodies, Wo... OMIM:617952
Alkaptonuria
Arthropathy, Vertebral fusion, Low back pain, Kyphosis, Limited shoulder movement, Arthritis, Thi... OMIM:203500
Fanconi Anemia, Complementation Group I
Fused cervical vertebrae, Optic nerve hypoplasia, Short neck OMIM:609053
Fibrochondrogenesis 2
Cupped ribs, Bell-shaped thorax, Platyspondyly, Short ribs, Thoracic hypoplasia OMIM:614524
Otopalatodigital Syndrome Type 1
Increased bone mineral density, Elbow dislocation, Limitation of joint mobility, Abnormal vertebr... ORPHA:90650
White Forelock With Malformations
Delayed skeletal maturation, Abnormal rib morphology, Joint hyperflexibility, Sprengel anomaly, S... ORPHA:2475
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Abnormal clavicle morphology, Short neck, Abnormal rib morphology, Platyspondyly, Narrow chest, D... ORPHA:93267
Axial Spondylometaphyseal Dysplasia
Osteopenia, Aplasia/Hypoplasia of the ribs, Thoracic scoliosis, Aplasia/Hypoplasia of the vertebr... ORPHA:168549
Sifrim-Hitz-Weiss Syndrome
Wormian bones, Fused cervical vertebrae, Short clavicles, Flat acetabular roof OMIM:617159
Trisomy 20P
Camptodactyly of finger, Spina bifida, Short neck, Kyphosis, Abnormal form of the vertebral bodie... ORPHA:261318
Thakker-Donnai Syndrome
Communicating hydrocephalus, Congenital diaphragmatic hernia, Short neck, Hemivertebrae, Cervical... ORPHA:1780
Laryngotracheoesophageal Cleft Type 4
Abnormal rib morphology, Abnormal form of the vertebral bodies ORPHA:93941
Thrombocytopenia-Absent Radius Syndrome
Death in infancy, Eosinophilia, Spina bifida, Shoulder muscle hypoplasia, Lateral clavicle hook, ... OMIM:274000
Microphthalmia, Syndromic 3
Vertebral fusion, Optic nerve aplasia, Optic nerve hypoplasia, Missing ribs, Rib fusion, Hemivert... OMIM:206900
Robinow Syndrome, Autosomal Recessive 1
Joint laxity, Vertebral fusion, Hypoplastic sacrum, Thoracolumbar scoliosis, Short neck, Missing ... OMIM:268310
Diastrophic Dysplasia
Joint dislocation, Abnormal clavicle morphology, Increased bone mineral density, Camptodactyly of... ORPHA:628
Spondylometaphyseal Dysplasia, Kozlowski Type
Enlarged joints, Kyphoscoliosis, Short neck, Hypoplasia of the odontoid process, Delayed skeletal... OMIM:184252
Mucopolysaccharidosis, Type Iva
Joint laxity, Ulnar deviation of the wrist, Ovoid vertebral bodies, Short neck, Hyperlordosis, Hy... OMIM:253000
Iniencephaly
Encephalocele, Spina bifida, Hyperlordosis, Congenital diaphragmatic hernia, Myelomeningocele, Ab... ORPHA:63259
Otopalatodigital Syndrome Type 2
Encephalocele, Increased bone mineral density, Tarsal synostosis, Camptodactyly of finger, Elbow ... ORPHA:90652
Mucolipidosis Iii Gamma
Hyperlordosis, Short neck, Kyphosis, Joint stiffness, Pectus carinatum, Genu valgum, Abnormal rib... OMIM:252605
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities
Narrow vertebral interpedicular distance, Scoliosis, Short neck OMIM:620073
Chiari Malformation Type Ii
Spina bifida, Myelomeningocele, Hydrocephalus, Cervical myelopathy, Syringomyelia, Limb muscle we... OMIM:207950
Juberg-Hayward Syndrome
Abnormality of the elbow, Abnormal rib morphology, Radioulnar synostosis, Scoliosis, Abnormality ... ORPHA:2319
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
Vertebral fusion, Sacral dimple, Hyperextensibility of the finger joints, Craniosynostosis, Short... OMIM:213980
Caudal Regression Syndrome
Decreased muscle mass, Missing ribs, Joint stiffness, Aplasia/Hypoplasia of the sacrum, Hypoplast... ORPHA:3027
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Abnormal rib morphology, Hemivertebrae, Abnormal form of the vertebral bodies, Scoliosis, Sprenge... ORPHA:2180
Achondrogenesis Type 1B
Short neck, Abnormal enchondral ossification, Short thorax, Abnormal rib morphology, Narrow chest... ORPHA:93298
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
Mucopolysaccharidosis Type 4
Joint dislocation, Hyperlordosis, Short neck, Kyphosis, Delayed skeletal maturation, Short thorax... ORPHA:582
Mosaic Trisomy 14
Camptodactyly of finger, Abnormal rib morphology, Narrow chest, Short neck ORPHA:1703
Split Cord Malformation
Back pain, Hemivertebrae, Abnormal thoracic spine morphology, Tethered cord, Hyperlordosis, Myelo... ORPHA:573278
Osteogenesis Imperfecta, Type Xxi
Barrel-shaped chest, Recurrent fractures, Pectus excavatum, Osteoporosis, Bell-shaped thorax, Pla... OMIM:619131
Infantile-Onset X-Linked Spinal Muscular Atrophy
Hip contracture, Skeletal muscle atrophy, Abnormal anterior horn cell morphology, Interphalangeal... ORPHA:1145
Anencephaly 1
Anencephaly, Spina bifida OMIM:206500
Lethal Congenital Contracture Syndrome 1
Skeletal muscle atrophy, Hypoplasia of the musculature, Paucity of anterior horn motor neurons, A... OMIM:253310
Fibular Hemimelia
Joint laxity, Thoracoabdominal wall defect, Decreased hip abduction, Spina bifida, Craniosynostos... ORPHA:93323
Acromesomelic Dysplasia 1
Lumbar hyperlordosis, Ovoid vertebral bodies, Thoracolumbar interpediculate narrowness, Thoracolu... OMIM:602875
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Missing ribs, Abnormal rib morphology, Hemivertebrae, Abnormal form of the vertebral bodies, Join... ORPHA:2759
Spondylocarpotarsal Synostosis Syndrome
Vertebral fusion, Scapular winging, Block vertebrae, Tarsal synostosis, Hyperlordosis, Short neck... OMIM:272460
Schisis Association
Encephalocele, Congenital diaphragmatic hernia, Anencephaly, Spina bifida ORPHA:63862
Aicardi Syndrome
Block vertebrae, Missing ribs, Optic disc coloboma, Rib fusion, Optic atrophy, Supernumerary ribs... ORPHA:50
Spondyloepimetaphyseal Dysplasia, Strudwick Type
Anterior rib cupping, Hyperlordosis, Hypoplasia of the odontoid process, Pectus carinatum, Genu v... OMIM:184250
Mucopolysaccharidosis, Type X
Irregular acetabular roof, Spatulate ribs, Hyperlordosis, Broad clavicles, Genu valgum, Platyspon... OMIM:619698
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Vertebral arch anomaly ORPHA:85184
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Lateral clavicle hook, Bell-shaped thorax, Thoracic dysplasia, Narrow chest, Horizontal ribs OMIM:615633
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type
Lumbar hyperlordosis, Ovoid vertebral bodies, Pectus excavatum, Limited elbow extension, Flat ace... OMIM:608728
Mosaic Trisomy 9
Camptodactyly of finger, Spina bifida, Short neck, Elbow dislocation, Limitation of joint mobilit... ORPHA:99776
Alagille Syndrome
Vertebral segmentation defect, Spina bifida occulta, Butterfly vertebral arch, Abnormal form of t... ORPHA:52
Osteogenesis Imperfecta, Type Iii
Recurrent fractures, Protrusio acetabuli, Severe generalized osteoporosis, Multiple prenatal frac... OMIM:259420
Phaver Syndrome
Camptodactyly of finger, Joint stiffness, Myelomeningocele, Abnormal rib morphology, Abnormal for... ORPHA:2876
Myhre Syndrome
Vertebral fusion, Enlarged vertebral pedicles, Platyspondyly, Short neck OMIM:139210
Osteogenesis Imperfecta, Type Ii
Recurrent fractures, Beaded ribs, Multiple prenatal fractures, Absent ossification of calvaria, T... OMIM:166210
Neuronal Intranuclear Inclusion Disease
Spina bifida occulta, Scoliosis, Abnormal form of the vertebral bodies ORPHA:2289
Chromosome 17P13.1 Deletion Syndrome
Joint laxity, Sacral dimple, Spina bifida, Short neck, Hydrocephalus, Elbow flexion contracture, ... OMIM:613776
Endosteal Hyperostosis, Autosomal Dominant
Clavicular sclerosis, Sclerotic vertebral body, Metacarpal diaphyseal endosteal sclerosis, Metata... OMIM:144750
Osteogenesis Imperfecta, Type Xvi
Osteopenia, Multiple rib fractures, Recurrent fractures, Beaded ribs, Platyspondyly, Decreased ca... OMIM:616229
Limb Body Wall Complex
Encephalocele, Thoracoabdominal wall defect, Diastasis recti, Spina bifida, Congenital diaphragma... ORPHA:2369
Kbg Syndrome
Vertebral fusion, Short neck, Delayed skeletal maturation, Rib fusion, Vertebral arch anomaly, Th... OMIM:148050
Apert Syndrome
Sagittal craniosynostosis, Limited elbow movement, Craniosynostosis, Hydrocephalus, Humeroradial ... OMIM:101200
Waardenburg Syndrome, Type 1
Spina bifida, Myelomeningocele, Supernumerary ribs, Supernumerary vertebrae, Sprengel anomaly OMIM:193500
Apert Syndrome
Hydrocephalus, Vertebral segmentation defect, Optic atrophy, Cervical C5/C6 vertebrae fusion ORPHA:87
Grant Syndrome
Joint dislocation, Abnormal rib morphology, Decreased skull ossification, Joint hyperflexibility,... ORPHA:2097
Osteogenesis Imperfecta
Cervical kyphosis, Kyphosis, Vertebral compression fracture, Abnormal form of the vertebral bodie... ORPHA:666
Mucopolysaccharidosis, Type Iiia
Thickened ribs, Joint stiffness, Ovoid thoracolumbar vertebrae, Scoliosis, Umbilical hernia, Dens... OMIM:252900
Stuve-Wiedemann Syndrome 2
Death in adolescence, Stillbirth, Scoliosis, Camptodactyly, Neonatal death, Thoracic hypoplasia OMIM:619751
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Anencephaly, Spina bifida ORPHA:2476
Holt-Oram Syndrome
Abnormal clavicle morphology, Down-sloping shoulders, Joint stiffness, Pectus excavatum, Kyphosis... ORPHA:392
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia
Long clavicles, Elbow dislocation, Lateral clavicle hook, Anterior vertebral fusion, Shoulder dis... OMIM:171480
Vacterl With Hydrocephalus
Absence of the sacrum, Spina bifida, Aqueductal stenosis, Hydrocephalus, Hemivertebrae, Hip dislo... ORPHA:3412
Craniodiaphyseal Dysplasia
Abnormal rib morphology ORPHA:1513
Cooper-Jabs Syndrome
Camptodactyly of finger, Missing ribs, Abnormal rib morphology, Reduced bone mineral density, Joi... ORPHA:1488
Spondyloepimetaphyseal Dysplasia, Missouri Type
Irregular sclerotic endplates, Osteoarthritis, Delayed skeletal maturation, Platyspondyly, Flared... OMIM:602111
Fibrochondrogenesis
Hypoplastic scapulae, Short neck, Wide anterior fontanel, Abnormal rib morphology, Abnormal form ... ORPHA:2021
Autosomal Recessive Robinow Syndrome
Death in infancy, Sacral dimple, Camptodactyly of finger, Short neck, Elbow dislocation, Kyphosis... ORPHA:1507
Spondyloepimetaphyseal Dysplasia, Sponastrime Type
Lumbar hyperlordosis, Kyphoscoliosis, Platyspondyly, Thoracic kyphosis, Biconcave vertebral bodie... OMIM:271510
Achondrogenesis Type 1A
Multiple rib fractures, Recurrent fractures, Short neck, Abnormal enchondral ossification, Short ... ORPHA:93299
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Ovoid vertebral bodies, Joint stiffness, Cupped ribs, Platyspondyly, Scoliosis, Severe platyspondyly OMIM:608940
Pseudoachondroplasia
Joint laxity, Lumbar hyperlordosis, Genu recurvatum, Limited hip extension, Spatulate ribs, Ulnar... OMIM:177170
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Sprengel anomaly, Abnormality of the vertebral column, Abnormal rib morphology OMIM:601076
Cartilage-Hair Hypoplasia
Abnormally ossified vertebrae, Biconvex vertebral bodies, Sacral dimple, Aganglionic megacolon, F... ORPHA:175
Sirenomelia
Absence of the sacrum, Spina bifida, Sirenomelia ORPHA:3169
Campomelic Dysplasia
Thoracic scoliosis, Cervical kyphosis, Delayed epiphyseal ossification, Patellar hypoplasia, Pect... OMIM:114290
Sacral Defect With Anterior Meningocele
Back pain, Absence of the sacrum, Myeloschisis, Hemisacrum, Tethered cord, Myelomeningocele, Meni... OMIM:600145
Koolen-De Vries Syndrome
Vertebral fusion, Pectus excavatum, Kyphosis, Hip dislocation, Joint hyperflexibility, Vertebral ... ORPHA:96169
Achondroplasia
Lumbar hyperlordosis, Lumbar kyphosis in infancy, Spinal stenosis with reduced interpedicular dis... OMIM:100800
Neu-Laxova Syndrome 2
Spina bifida, Scoliosis, Short neck OMIM:616038
Cole-Carpenter Syndrome
Recurrent fractures, Kyphosis, Abnormal rib morphology, Abnormal form of the vertebral bodies, Jo... ORPHA:2050
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1
Absence of the sacrum, Tethered cord, Butterfly vertebrae, Spinal dysraphism OMIM:617660
Hallermann-Streiff Syndrome
Spina bifida, Hyperlordosis, Pectus excavatum, Tracheomalacia, Optic disc coloboma, Thin ribs, Ab... OMIM:234100
Short Stature And Facioauriculothoracic Malformations
Abnormal odontoid process morphology, Short neck, Pectus excavatum, Pectus carinatum, Cervical ribs OMIM:609654
Frontometaphyseal Dysplasia 2
Hip contracture, Decreased muscle mass, Congenital hip dislocation, Elbow contracture, Pectus exc... OMIM:617137
Neu-Laxova Syndrome
Osteopenia, Skeletal muscle atrophy, Osteomalacia, Spina bifida, Flexion contracture, Osteoporosi... ORPHA:2671
Wolf-Hirschhorn Syndrome
Rib segmentation abnormalities, Sacral dimple, Tethered cord, Congenital diaphragmatic hernia, Ky... ORPHA:280
Thanatophoric Dysplasia, Type Ii
Small abnormally formed scapulae, Wide-cupped costochondral junctions, Platyspondyly, Short ribs,... OMIM:187601
Phakomatosis Pigmentokeratotica
Hypophosphatemic rickets, Rhabdomyosarcoma, Spina bifida, Scoliosis ORPHA:2874
Dyggve-Melchior-Clausen Disease
Glenoid fossa hypoplasia, Short neck, Horizontal inferior border of scapula, Hypoplasia of the od... ORPHA:239
3M Syndrome
Scapular winging, Congenital hip dislocation, Short neck, Hyperlordosis, Increased vertebral heig... ORPHA:2616
Pallister-Hall Syndrome
Radial head subluxation, Hemivertebrae, Hip dislocation, Rib fusion, Holoprosencephaly, Neonatal ... OMIM:146510
Pde4D Haploinsufficiency Syndrome
Irregular vertebral endplates, Caudal interpedicular narrowing ORPHA:439822
Cardiospondylocarpofacial Syndrome
Joint laxity, Tarsal synostosis, Congenital diaphragmatic hernia, Delayed skeletal maturation, Ri... OMIM:157800
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
11 pairs of ribs, Platyspondyly, Decreased skull ossification, Thin ribs OMIM:300863
Craniorachischisis
Congenital diaphragmatic hernia, Cervical spina bifida, Myelomeningocele, Anencephaly, Sirenomeli... ORPHA:63260
Dyggve-Melchior-Clausen Disease
Short neck, Flat glenoid fossa, Pectus carinatum, Thoracic kyphosis, Multicentric ossification of... OMIM:223800
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Disc-like vertebral bodies, Ovoid vertebral bodies, Short neck, Flat acetabular roof, Thin ribs, ... OMIM:151210
Melnick-Needles Syndrome
Delayed cranial suture closure, Short thorax, Abnormal rib morphology, Hip dislocation, Osteolyti... ORPHA:2484
Cartilage-Hair Hypoplasia
Hypoplasia of the odontoid process, Lumbar hyperlordosis, Narrow vertebral interpedicular distanc... OMIM:250250
Humero-Radial Synostosis
Tarsal synostosis, Elbow dislocation, Meningocele, Limitation of joint mobility, Abnormality of t... ORPHA:3265
Koolen-De Vries Syndrome
Vertebral fusion, Sacral dimple, Prominent metopic ridge, Pectus excavatum, Kyphosis, Hypotrophy ... OMIM:610443
Jeune Syndrome
Abnormal clavicle morphology, Short thorax, Abnormal rib morphology, Abnormal sternum morphology,... ORPHA:474
Baller-Gerold Syndrome
Bicoronal synostosis, Optic nerve hypoplasia, Limited elbow movement, Sagittal craniosynostosis, ... OMIM:218600
Cloacal Exstrophy
Myelomeningocele, Hemivertebrae, Spina bifida, Hip dislocation ORPHA:93929
Chops Syndrome
Tracheomalacia, Cervical C2/C3 vertebral fusion, Optic atrophy OMIM:616368
Mucopolysaccharidosis, Type Iiib
Thickened ribs, Ovoid thoracolumbar vertebrae, Dense calvaria, Joint stiffness OMIM:252920
Sillence Syndrome
Back pain, Flat acetabular roof, Platyspondyly, Scoliosis, Camptodactyly, Abnormal vertebral morp... ORPHA:3168
Cog1-Cdg
Osteopenia, Irregularity of vertebral bodies, Kyphoscoliosis, Short neck, Rib fusion, Posterior r... ORPHA:263508
Achondrogenesis, Type Ia
Barrel-shaped chest, Hypoplastic scapulae, Hypoplastic sacrum, Beaded ribs, Short neck, Abnormal ... OMIM:200600
Femoral-Facial Syndrome
Limited elbow movement, Missing ribs, Absent vertebra, Hemivertebrae, Humeroradial synostosis, Ri... OMIM:134780
Cole-Carpenter Syndrome 2
Osteopenia, Wide cranial sutures, Recurrent fractures, Pectus excavatum, Kyphosis, Thin ribs, Pla... OMIM:616294
Robinow Syndrome
Fused thoracic vertebrae, Kyphoscoliosis, Missing ribs, Hemivertebrae, Rib fusion, Scoliosis, Umb... ORPHA:97360
Osteogenesis Imperfecta, Type Viii
Barrel-shaped chest, Osteopenia, Joint laxity, Recurrent fractures, Multiple prenatal fractures, ... OMIM:610915
Acrodysostosis 1 With Or Without Hormone Resistance
Hypoplastic vertebral bodies, Narrow vertebral interpedicular distance, Spinal canal stenosis, Sc... OMIM:101800
Mucopolysaccharidosis, Type Iiic
Thickened ribs, Kyphoscoliosis, Joint stiffness, Ovoid thoracolumbar vertebrae, Beaking of verteb... OMIM:252930
Mucopolysaccharidosis, Type Ivb
Joint laxity, Ulnar deviation of the wrist, Ovoid vertebral bodies, Hyperlordosis, Joint stiffnes... OMIM:253010
Metaphyseal Chondrodysplasia, Schmid Type
Lumbar hyperlordosis, Anterior rib cupping, Osteosclerosis of ribs, Irregular vertebral endplates... ORPHA:174
Focal Dermal Hypoplasia
Camptodactyly of finger, Spina bifida, Congenital diaphragmatic hernia, Diastasis recti, Short ri... ORPHA:2092
Brachytelephalangic Chondrodysplasia Punctata
Stippling of the epiphyses of the distal phalanges of the hand, Calcaneal epiphyseal stippling, C... ORPHA:79345
Wolf-Hirschhorn Syndrome
Rib segmentation abnormalities, Vertebral fusion, Sacral dimple, Tethered cord, Decreased muscle ... OMIM:194190
Congenital Pseudoarthrosis Of The Clavicle
Congenital pseudoarthrosis of the clavicle, Osteoarthritis, Cervical ribs ORPHA:66630
10Q22.3Q23.3 Microduplication Syndrome
Abnormal clavicle morphology, Abnormal rib morphology ORPHA:276422
Osteogenesis Imperfecta, Type X
Osteopenia, Multiple rib fractures, Thoracic scoliosis, Joint laxity, Generalized joint laxity, T... OMIM:613848
Craniodiaphyseal Dysplasia, Autosomal Dominant
Thickened ribs, Craniofacial osteosclerosis, Diaphyseal sclerosis, Cortical sclerosis OMIM:122860
Thin Ribs-Tubular Bones-Dysmorphism Syndrome
Abnormal rib morphology ORPHA:1506
Dysosteosclerosis
Osteopenia, Sclerosis of hand bone, Sclerotic scapulae, Delayed closure of the anterior fontanell... OMIM:224300
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi
Tethered cord, Scoliosis, Spinal dysraphism OMIM:612918
Otopalatodigital Syndrome, Type Ii
Congenital hip dislocation, Elbow contracture, Spina bifida, Kyphoscoliosis, Short neck, Delayed ... OMIM:304120
Duane Retraction Syndrome
Skeletal muscle atrophy, Short neck, Spina bifida occulta, Abnormal form of the vertebral bodies,... ORPHA:233
Thoracic Outlet Syndrome
Abnormal rib morphology ORPHA:97330
Lethal Kniest-Like Dysplasia
Anterior rib cupping, Short neck, Wide anterior fontanel, Hypoplastic vertebral bodies, Coronal c... ORPHA:2347
Mucopolysaccharidosis Type 6
Ovoid vertebral bodies, Joint stiffness, Short neck, Kyphosis, Genu valgum, Broad ribs ORPHA:583
Prune Belly Syndrome
Congenital hip dislocation, Pectus excavatum, Abnormal rib morphology, Vertebral segmentation def... ORPHA:2970
Fibrochondrogenesis 1
Hypoplastic scapulae, Long clavicles, Anterior rib cupping, Short neck, Widely patent sagittal su... OMIM:228520
Zttk Syndrome
Craniosynostosis, Kyphosis, Flexion contracture, Rib fusion, Hemivertebrae, Optic atrophy, Cervic... OMIM:617140
Neurofibromatosis, Type I
Spina bifida, Rhabdomyosarcoma, Aqueductal stenosis, Pectus excavatum, Hydrocephalus, Genu valgum... OMIM:162200
Chromosome 16P13.3 Duplication Syndrome
Sacral dimple, Facial hypotonia, Short neck, Pectus excavatum, Hip dislocation, Cervical C5/C6 ve... OMIM:613458
Sacral Agenesis With Vertebral Anomalies
Absence of the sacrum, Vertebral clefting, Abnormal vertebral morphology OMIM:615709
Axial Mesodermal Dysplasia Spectrum
Abnormality of the knee, Short neck, Missing ribs, Abnormal rib morphology, Abnormal form of the ... ORPHA:1834
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Long clavicles, Contracture of the distal interphalangeal joint of the fingers, Thin ribs, Cleft ... ORPHA:83617
Cenani-Lenz Syndrome
Elbow dislocation, Abnormal rib morphology, Hip dislocation, Abnormal form of the vertebral bodie... ORPHA:3258
Faciodigitogenital Syndrome, Autosomal Recessive
Vertebral fusion, Down-sloping shoulders, Pectus excavatum, Hyperextensible hand joints, Abnormal... OMIM:227330
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Osteopenia, Multiple rib fractures, Fractured radius, Short neck, Beaded ribs, Multiple prenatal ... OMIM:616897
Simpson-Golabi-Behmel Syndrome
Vertebral fusion, Death in infancy, Congenital hip dislocation, Camptodactyly of finger, Congenit... ORPHA:373
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome
Hyperlordosis, Delayed skeletal maturation, Limitation of joint mobility, Abnormal rib morphology... ORPHA:3068
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome
Kyphosis, Abnormal rib morphology, Short neck, Pectus carinatum ORPHA:3082
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Abnormally ossified vertebrae, Abnormal rib morphology ORPHA:3035
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy
Anterior rib cupping, Kyphoscoliosis, Short neck, Hypoplasia of the odontoid process, Delayed ske... OMIM:300232
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome
Sacral dimple, Rib fusion ORPHA:544488
Pagod Syndrome
Encephalocele, Death in infancy, Abnormal clavicle morphology, Spina bifida, Congenital diaphragm... ORPHA:991
Trisomy 18
Camptodactyly of finger, Spina bifida, Congenital diaphragmatic hernia, Delayed skeletal maturati... ORPHA:3380
Three M Syndrome 2
Scapular winging, Lumbar hyperlordosis, Short neck, Hyperlordosis, Delayed skeletal maturation, S... OMIM:612921
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Joint hyperflexibility, Decreased calvarial ossification, Abnormal rib morphology, Recurrent frac... ORPHA:2772
Koolen-De Vries Syndrome Due To A Point Mutation
Joint dislocation, Hand muscle atrophy, Sacral dimple, Joint laxity, Spina bifida, Hyperlordosis,... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Joint dislocation, Hand muscle atrophy, Sacral dimple, Joint laxity, Spina bifida, Hyperlordosis,... ORPHA:363958
Vater/Vacterl Association
Occipital encephalocele, Tethered cord, Spina bifida, Abnormal rib morphology, Radioulnar synosto... OMIM:192350
Acro-Renal-Mandibular Syndrome
Abnormal clavicle morphology, Hypoplastic scapulae, Short neck, Kyphosis, Hemivertebrae, Hip disl... ORPHA:958
Vertebral Hypersegmentation And Orofacial Anomalies
Scapular winging, Pectus excavatum, Supernumerary ribs, Six lumbar vertebrae, Joint hypermobility OMIM:619122
Jacobsen Syndrome
Death in infancy, Spina bifida, Short neck, Missing ribs, Hip dislocation, Abnormal form of the v... ORPHA:2308
Cantú Syndrome
Ovoid vertebral bodies, Short neck, Accelerated skeletal maturation, Delayed skeletal maturation,... ORPHA:1517
Aminopterin/Methotrexate Embryofetopathy
Encephalocele, Hydrocephalus, Meningocele, Anencephaly, Spinal dysraphism, Holoprosencephaly ORPHA:1908
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Short neck, Flexion contracture, Hemivertebrae, Narrow chest, Interphalangeal joint contracture o... ORPHA:96334
Mucolipidosis Iii Alpha/Beta
Craniosynostosis, Irregular carpal bones, Short ribs, Scoliosis, Broad ribs, Shallow acetabular f... OMIM:252600
Holzgreve Syndrome
Abnormally ossified vertebrae, Abnormal rib morphology, Joint stiffness ORPHA:2167
Mucolipidosis Ii Alpha/Beta
Thoracolumbar kyphoscoliosis, Ovoid vertebral bodies, Myelopathy, Hypoplasia of the odontoid proc... OMIM:252500
Familial Osteodysplasia, Anderson Type
Recurrent fractures, Aplastic clavicle, Missing ribs, Elbow dislocation, Kyphosis, Abnormal rib m... ORPHA:2769
Gm1-Gangliosidosis, Type I
Thickened ribs, Short neck, Joint stiffness, Kyphosis, Hypoplastic vertebral bodies, Scoliosis, B... OMIM:230500
Bent Bone Dysplasia Syndrome 2
Osteopenia, Short neck, Thin ribs, Coronal cleft vertebrae, Platyspondyly, Decreased calvarial os... OMIM:620076
1P36 Deletion Syndrome
11 pairs of ribs, Rib fusion, Bifid ribs ORPHA:1606
Microcephalic Primordial Dwarfism, Toriello Type
Delayed skeletal maturation, Abnormal rib morphology ORPHA:2643
Hypophosphatasia
Recurrent fractures, Abnormal rib morphology, Narrow chest, Craniosynostosis ORPHA:436
Lymphangiectasia, Intestinal
Stillbirth, Prominent floating ribs OMIM:152800
Achondrogenesis, Type Ii
Barrel-shaped chest, Absent vertebral body mineralization, Short ribs, Horizontal ribs OMIM:200610
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness
Joint laxity, Lumbar hyperlordosis, Cupped ribs, Flat glenoid fossa, Irregular chondrocostal junc... OMIM:250420
Greenberg Dysplasia
Beaded ribs, Multiple prenatal fractures, Patchy variation in bone mineral density, Hypoplastic v... OMIM:215140
Mosaic Trisomy 8
Camptodactyly of finger, Short neck, Limitation of joint mobility, Abnormal rib morphology, Patel... ORPHA:96061
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly
Joint dislocation, Thoracolumbar scoliosis, Ovoid vertebral bodies, Hyperlordosis, Horizontal rib... OMIM:618019
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Lumbar hyperlordosis, Kyphoscoliosis, Short neck, Kyphosis, Irregular vertebral endplates, Corona... OMIM:143095
Spondylometaphyseal Dysplasia, Algerian Type
Lumbar hyperlordosis, Anterior rib cupping, Kyphoscoliosis, Genu valgum, Platyspondyly, Carpal bo... OMIM:184253
Cat-Eye Syndrome
Abnormal rib morphology ORPHA:195
Isolated Posterior Meningocele
Tethered cord, Thoracic hemivertebrae, Hydrocephalus, Meningocele, Lipomyelomeningocele, Neural t... ORPHA:268810
Poland Syndrome
Encephalocele, Aplasia/Hypoplasia of the sternum, Short neck, Missing ribs, Kyphosis, Congenital ... ORPHA:2911
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum
Torticollis, Tethered cord, Spina bifida, Unilateral facial palsy, Scoliosis OMIM:619480
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Tracheomalacia, Macroglossia, Wormian bones, Cervical C2/C3 vertebral fusion, Abnormal vertebral ... ORPHA:444077
Vacterl Association With Hydrocephalus
Aqueductal stenosis, Hydrocephalus, Abnormality of the vertebral column, Stillbirth, Abnormal ver... OMIM:276950
Aneurysm-Osteoarthritis Syndrome
Joint laxity, Osteoarthritis of the small joints of the hand, Protrusio acetabuli, Camptodactyly ... ORPHA:284984
Cleidocranial Dysplasia
Hypoplastic scapulae, Down-sloping shoulders, Recurrent fractures, Abnormal sacrum morphology, Ab... ORPHA:1452
Chromosome 1P36 Deletion Syndrome, Distal
11 pairs of ribs, Rib fusion, Bifid ribs OMIM:607872
Craniometadiaphyseal Dysplasia
Osteopenia, Cubitus valgus, Genu valgum, Sclerosis of skull base, Scoliosis, Wormian bones, Broad... OMIM:269300
Vacterl/Vater Association
Occipital encephalocele, Abnormal intervertebral disk morphology, Congenital diaphragmatic hernia... ORPHA:887
Holoprosencephaly
Encephalocele, Congenital diaphragmatic hernia, Short neck, Hydrocephalus, Optic atrophy, Spinal ... ORPHA:2162
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Platyspondyly, Thin ribs ORPHA:163966
Spondylometaphyseal Dysplasia, Sedaghatian Type
Abnormal scapula morphology, Accelerated skeletal maturation, Delayed skeletal maturation, Abnorm... ORPHA:93317
Campomelia, Cumming Type
Abnormally ossified vertebrae, Abnormal thorax morphology, Abnormal rib morphology ORPHA:1318
22Q11.2 Deletion Syndrome
Aganglionic megacolon, Spina bifida, Short neck, Hydrocephalus, Meningocele, Abnormal thorax morp... ORPHA:567
Renpenning Syndrome
Pectus excavatum, Sprengel anomaly, Abnormal rib morphology, Joint stiffness ORPHA:3242
Acro-Renal-Ocular Syndrome
Vertebral fusion, Vertebral segmentation defect, Optic disc coloboma, Aganglionic megacolon ORPHA:959
Ossification Anomalies-Psychomotor Developmental Delay Syndrome
Abnormal thorax morphology, Abnormal form of the vertebral bodies, Thin ribs, Narrow chest, Abnor... ORPHA:73230
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Lumbar hyperlordosis, Optic nerve hypoplasia, Kyphoscoliosis, Sagittal craniosynostosis, Hemivert... ORPHA:500150
Pyknoachondrogenesis
Abnormal intramembranous ossification, Short thorax, Poorly ossified vertebrae, Enlarged thorax, ... ORPHA:3003
Neu-Laxova Syndrome 1
Spina bifida, Short neck, Stillbirth, Short umbilical cord, Small placenta, Neonatal death, Hydra... OMIM:256520
Loeys-Dietz Syndrome 6
Hip osteoarthritis, Knee osteoarthritis, Scoliosis, Intervertebral disc degeneration OMIM:619656
Radio-Renal Syndrome
Abnormality of the elbow, Abnormal rib morphology, Abnormal form of the vertebral bodies, Short neck ORPHA:3015
X-Linked Hypophosphatemia
Craniosynostosis, Beaded ribs, Enlargement of the costochondral junction, Sacroiliac joint synovi... ORPHA:89936
Mucopolysaccharidosis, Type Vi
Lumbar hyperlordosis, Ovoid vertebral bodies, Kyphoscoliosis, Joint stiffness, Anterior wedging o... OMIM:253200
Elsahy-Waters Syndrome
Pectus excavatum, Cervical C2/C3 vertebral fusion, Increased cup-to-disc ratio OMIM:211380
Hurler Syndrome
Death in infancy, Abnormal clavicle morphology, Camptodactyly of finger, Short neck, Hydrocephalu... ORPHA:93473
Kyphomelic Dysplasia
Anterior rib cupping, Lateral clavicle hook, Limitation of joint mobility, Undulate ribs, Flat ac... OMIM:211350
Antley-Bixler Syndrome
Recurrent fractures, Craniosynostosis, Joint stiffness, Camptodactyly of finger, Abnormal rib mor... ORPHA:83
Rubinstein-Taybi Syndrome 1
Joint laxity, Joint hypermobility, Spina bifida, Pectus excavatum, Wide anterior fontanel, Delaye... OMIM:180849
Generalized Arterial Calcification Of Infancy
Abnormality of the knee, Calcification of the auricular cartilage, Osteomalacia, Stippled calcifi... ORPHA:51608
Shprintzen-Goldberg Craniosynostosis Syndrome
Osteopenia, Joint laxity, Genu recurvatum, Craniosynostosis, Lateral clavicle hook, Pectus excava... OMIM:182212
Acromesomelic Dysplasia 4
Thoracic scoliosis, Lumbar hyperlordosis, Accelerated skeletal maturation, Thoracic platyspondyly... OMIM:619636
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Diastasis recti, Syringomyelia, Posterior rib fusion, Neonatal death, Butterfly vertebrae, Right ... OMIM:265380
Trisomy 13
Kyphosis, Abnormal rib morphology, Narrow chest, Scoliosis ORPHA:3378
Occipital Horn Syndrome
Joint laxity, Persistent open anterior fontanelle, Broad clavicles, Pectus excavatum, Kyphosis, C... OMIM:304150
Kenny-Caffey Syndrome, Type 1
Long clavicles, Delayed closure of the anterior fontanelle, Thin clavicles, Delayed skeletal matu... OMIM:244460
Schwartz-Jampel Syndrome
Skeletal muscle atrophy, Short neck, Pectus carinatum, Wrist flexion contracture, Death in infanc... ORPHA:800
Osteogenesis Imperfecta, Type Vii
Osteopenia, Multiple rib fractures, Wide cranial sutures, Recurrent fractures, Protrusio acetabul... OMIM:610682
Meier-Gorlin Syndrome 1
Genu recurvatum, Lateral clavicle hook, Flat glenoid fossa, Hemivertebrae, Flexion contracture, P... OMIM:224690
Tetraamelia-Multiple Malformations Syndrome
Abnormally ossified vertebrae, Abnormal rib morphology, Missing ribs ORPHA:3301
Autosomal Recessive Kenny-Caffey Syndrome
Thin clavicles, Delayed skeletal maturation, Thin ribs, Decreased skull ossification, Calvarial o... ORPHA:93324
Craniosynostosis, Herrmann-Opitz Type
Abnormal rib morphology, Craniosynostosis ORPHA:2145
Congenital Myopathy 22B, Severe Fetal
Hip contracture, Scapular winging, Thoracic scoliosis, Limb joint contracture, Shoulder flexion c... OMIM:620369
Heterotaxy, Visceral, 1, X-Linked
Absence of the sacrum, Congenital hip dislocation, Block vertebrae, Aqueductal stenosis, Myelomen... OMIM:306955
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Thoracic hypoplasia, Lateral clavicle hook, Short ribs, Narrow chest, Horizontal ribs OMIM:617895
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
Short neck, Delayed proximal femoral epiphyseal ossification, Flexion contracture, Irregular vert... OMIM:271640
Fanconi Anemia
Aganglionic megacolon, Spina bifida, Hydrocephalus, Hip dislocation, Reduced bone mineral density... ORPHA:84
Pallister-Hall Syndrome
Radial head subluxation, Hemivertebrae, Hip dislocation, Rib fusion, Distal arthrogryposis, Holop... ORPHA:672
Autosomal Dominant Popliteal Pterygium Syndrome
Popliteal pterygium, Abnormal rib morphology, Scoliosis, Joint stiffness ORPHA:1300
Kagami-Ogata Syndrome
Long clavicles, Kyphoscoliosis, Flexion contracture, Thin ribs, Bell-shaped thorax OMIM:608149
Monosomy 9Q22.3
Rhabdomyosarcoma, Short neck, Pectus excavatum, Kyphosis, Hydrocephalus, Accelerated skeletal mat... ORPHA:77301
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Broad ribs, Abnormal sternum morphology, Abnormal rib morphology, Short ribs ORPHA:2519
Alagille Syndrome 1
Hemivertebrae, Butterfly vertebral arch OMIM:118450
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development
Arthrogryposis multiplex congenita, Decreased calvarial ossification, Craniosynostosis, Thin ribs OMIM:618265
Nestor-Guillermo Progeria Syndrome
Wide cranial sutures, Limited elbow movement, Delayed closure of the anterior fontanelle, Joint s... OMIM:614008
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion
Joint laxity, Pectus excavatum, Large placenta, Flexion contracture, Prominent sternum, Coat hang... ORPHA:254528
Multiple Pterygium-Malignant Hyperthermia Syndrome
Prominent metopic ridge, Camptodactyly of finger, Pectus excavatum, Kyphosis, Abnormal rib morpho... ORPHA:2215
Camptodactyly Syndrome, Guadalajara Type 3
Osteopenia, Short neck, Delayed skeletal maturation, Abnormal rib morphology, Spina bifida occult... ORPHA:488434
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
Osteopenia, Pectus excavatum, Delayed skeletal maturation, Thin ribs, Lumbar hemivertebrae, Abnor... ORPHA:2463
Loeys-Dietz Syndrome 3
Joint laxity, Protrusio acetabuli, Craniosynostosis, Osteoarthritis, Knee osteoarthritis, Cervica... OMIM:613795
Acrorenal-Mandibular Syndrome
Hypoplastic scapulae, Kyphoscoliosis, Missing ribs, Hemivertebrae, Hip dislocation, Elbow flexion... OMIM:200980
Aspergillosis
Abnormality of the vertebral column, Abnormal rib morphology, Osteomyelitis ORPHA:1163
Lumbar Syndrome
Myelomeningocele, Spina bifida ORPHA:83628
X-Linked Myotubular Myopathy-Abnormal Genitalia Syndrome
Joint hypermobility, Thin ribs ORPHA:456328
Acrocapitofemoral Dysplasia
Lumbar hyperlordosis, Ovoid vertebral bodies, Pectus excavatum, Cupped ribs, Pectus carinatum, De... OMIM:607778
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type
Anterior rib cupping, Short neck, Pectus excavatum, Hypoplasia of the odontoid process, C1-C2 sub... OMIM:271665
Lethal Congenital Contracture Syndrome 10
Thoracic scoliosis, Stiff neck, Short neck, Narrow chest, Broad ribs OMIM:617022
Severe Congenital Nemaline Myopathy
Multiple prenatal fractures, Abnormal thorax morphology, Flexion contracture, Thin ribs, Arthrogr... ORPHA:171430
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Cleft vertebral arch, Platyspondyly, Short neck OMIM:210710
Lethal Congenital Contracture Syndrome 5
Congenital contracture, Flexion contracture, Thin ribs OMIM:615368
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
Large placenta, Umbilical hernia, Thoracic hypoplasia, Coat hanger sign of ribs ORPHA:254534
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Flexion contracture, Narrow chest, Abnormality of the wrist, Abnormal vertebral morphology, Elbow... ORPHA:95699
Mucopolysaccharidosis, Type Iiid
Thoracic scoliosis, Thickened ribs, Pilonidal sinus, Short neck, Joint stiffness, Achilles tendon... OMIM:252940
Kagami-Ogata Syndrome
Kyphoscoliosis, Short neck, Large placenta, Limitation of joint mobility, Bell-shaped thorax, Coa... ORPHA:254519
Sclerosteosis 1
Broad ribs, Sclerotic vertebral endplates, Sclerotic scapulae, Broad clavicles OMIM:269500
Craniofacial Microsomia 1
Occipital encephalocele, Block vertebrae, Hypoplasia of facial musculature, Hydrocephalus, Hemive... OMIM:164210
Lenz-Majewski Hyperostotic Dwarfism
Joint laxity, Hyperextensibility of the finger joints, Broad clavicles, Delayed skeletal maturati... OMIM:151050
Fibrous Dysplasia Of Bone
Abnormal clavicle morphology, Osteomalacia, Abnormal rib morphology, Bone pain, Rickets, Osteolys... ORPHA:249
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Flexion contracture, Thin ribs OMIM:614833
Van Den Ende-Gupta Syndrome
Sacral dimple, Hypoplastic scapulae, Glenoid fossa hypoplasia, Craniosynostosis, Lateral clavicle... OMIM:600920
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Lateral clavicle hook, Pectus carinatum, Platyspondyly, Thoracic dysplasia, Short ribs, Narrow ch... OMIM:263520
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Thoracic hypoplasia, Lateral clavicle hook, Short ribs, Scoliosis, Acetabular spurs, Horizontal ribs OMIM:613091
Fetal Akinesia Deformation Sequence 1
Hip contracture, Decreased muscle mass, Camptodactyly of finger, Elbow contracture, Short neck, H... OMIM:208150
Atypical Werner Syndrome
Sclerosis of hand bone, Skeletal muscle atrophy, Increased bone mineral density, Abnormal thorax ... ORPHA:79474
Oculocerebrocutaneous Syndrome
Congenital hip dislocation, Congenital diaphragmatic hernia, Missing ribs, Hydrocephalus, Abnorma... ORPHA:1647
Cerebrocostomandibular Syndrome
Rib gap, 10 pairs of ribs, 11 pairs of ribs, Congenital hip dislocation, Anomalous rib insertion ... OMIM:117650
Ellis-Van Creveld Syndrome
Capitate-hamate fusion, Pectus carinatum, Genu valgum, Short ribs, Narrow chest, Acetabular spurs... OMIM:225500
Premature Aging Syndrome, Penttinen Type
Recurrent fractures, Hyperextensibility of the knee, Delayed skeletal maturation, Osteoporosis, T... OMIM:601812
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Cupped ribs, Platyspondyly, Ovoid vertebral bodies, Scoliosis ORPHA:85167
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Bell-shaped thorax, Delayed skeletal maturation, Horizontal ribs OMIM:614857
Hyperparathyroidism, Transient Neonatal
Osteopenia, Wide cranial sutures, Recurrent fractures, Undulate ribs, Thin ribs, Short ribs, Narr... OMIM:618188
Weill-Marchesani Syndrome 1
Lumbar hyperlordosis, Joint stiffness, Spinal canal stenosis, Scoliosis, Broad ribs OMIM:277600
Spondylometaphyseal Dysplasia, Sedaghatian Type
11 pairs of ribs, Short neck, Cupped ribs, Horizontal inferior border of scapula, Delayed epiphys... OMIM:250220
Trisomy 1Q
Camptodactyly of finger, Congenital diaphragmatic hernia, Hydrocephalus, Short thorax, Abnormal r... ORPHA:261344
Xylt1-Cdg
Joint dislocation, Joint laxity, Accelerated skeletal maturation, Short clavicles, Broad ribs ORPHA:370930
Stuve-Wiedemann Syndrome 1
Enlarged joints, Ovoid vertebral bodies, Short neck, Osteoporosis, Elbow flexion contracture, Thi... OMIM:601559
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1
Osteopenia, Joint dislocation, Joint laxity, Congenital hip dislocation, Protrusio acetabuli, Kyp... OMIM:225400
Mucopolysaccharidosis Type 3
Abnormal clavicle morphology, Joint stiffness, Avascular necrosis of the capital femoral epiphysi... ORPHA:581
Alpha-Mannosidosis, Infantile Form
Osteopenia, Joint laxity, Thickened ribs, Craniosynostosis, Short neck, Pectus excavatum, Joint s... ORPHA:309282
Spondyloepimetaphyseal Dysplasia, X-Linked
Joint laxity, Lumbar hyperlordosis, Hypoplasia of the odontoid process, Kyphosis, Limited elbow e... OMIM:300106
Osteopathia Striata With Cranial Sclerosis
Tracheomalacia, Delayed closure of the anterior fontanelle, Pectus excavatum, Craniofacial osteos... OMIM:300373
Myotubular Myopathy With Abnormal Genital Development
Joint hypermobility, Thin ribs OMIM:300219
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Barrel-shaped chest, Pilonidal sinus, Aplasia/Hypoplasia involving the carpal bones, Short neck, ... OMIM:276820
Exstrophy-Epispadias Complex
Abnormal joint morphology, Hydrocephalus, Spina bifida ORPHA:322
Short-Rib Thoracic Dysplasia 12
Hypoplastic scapulae, Short neck, Short thorax, Anencephaly, Thoracic dysplasia, Short ribs, Narr... OMIM:269860
Weill-Marchesani Syndrome 2
Lumbar hyperlordosis, Joint stiffness, Delayed skeletal maturation, Elbow flexion contracture, Sp... OMIM:608328
Myhre Syndrome
Platyspondyly, Abnormal rib morphology, Joint stiffness ORPHA:2588
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Short neck, Lateral clavicle hook, Wide anterior fontanel, Long thorax, Narrow chest, Short ribs,... OMIM:617925
Digeorge Syndrome
Pilonidal sinus, Patellar dislocation, Scoliosis, Umbilical hernia, Intervertebral disc degeneration OMIM:188400
Monosomy 9P
Short neck, Limitation of joint mobility, Abnormal rib morphology, Abnormality of the vertebral c... ORPHA:261112
Gracile Bone Dysplasia
Decreased skull ossification, Thin ribs OMIM:602361
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies
Hyperlordosis, Hip dislocation, Genu valgum, Broad ribs, Umbilical hernia, Limited elbow extension OMIM:301066
Schinzel-Giedion Midface Retraction Syndrome
Sacrococcygeal teratoma, Long clavicles, Increased density of long bones, Short neck, Metopic sut... OMIM:269150
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Encephalocele, Unicoronal synostosis, Flat acetabular roof, Bell-shaped thorax, Short ribs, Narro... OMIM:616300
Autosomal Dominant Centronuclear Myopathy
Thin ribs ORPHA:169189
Ulbright-Hodes Syndrome
Short neck, Humeroradial synostosis, Abnormal rib morphology, Ovoid thoracolumbar vertebrae, Thin... ORPHA:3404
Craniotubular Dysplasia, Ikegawa Type
Increased intervertebral space, Broad ribs, Platyspondyly, Sclerosis of skull base OMIM:619727
Eiken Syndrome
Delayed epiphyseal ossification, Flat acetabular roof, Delayed ossification of carpal bones, Dela... OMIM:600002
Restrictive Dermopathy
Osteopenia, Thoracic kyphoscoliosis, Aplasia/Hypoplasia of the clavicles, Multiple joint contract... ORPHA:1662
Oculocerebrorenal Syndrome Of Lowe
Osteomalacia, Recurrent fractures, Joint stiffness, Kyphosis, Abnormal rib morphology, Hip disloc... ORPHA:534
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Lateral clavicle hook, Early ossification of capital femoral epiphyses, Thoracic dysplasia, Short... OMIM:208500
Pseudo-Torch Syndrome 2
Thin ribs OMIM:617397
Dextrocardia
Congenital hip dislocation, Abnormal rib morphology ORPHA:1666
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Craniosynostosis, Short neck, Pectus excavatum, Delayed skeletal maturation, Hip dislocation, Und... OMIM:609945
Schinzel-Giedion Syndrome
Abnormal clavicle morphology, Sacrococcygeal teratoma, Kyphoscoliosis, Short neck, Abnormal thora... ORPHA:798
Smith-Lemli-Opitz Syndrome
Aganglionic megacolon, Congenital diaphragmatic hernia, Short neck, Kyphosis, Hip dislocation, Ab... ORPHA:818
Ear-Patella-Short Stature Syndrome
Camptodactyly of finger, Aplastic clavicle, Craniosynostosis, Elbow dislocation, Delayed skeletal... ORPHA:2554
Mucopolysaccharidosis Type 2, Severe Form
Thickened ribs, Camptodactyly of finger, Flexion contracture, Limitation of joint mobility, Spina... ORPHA:217085
Mucopolysaccharidosis Type 2, Attenuated Form
Thickened ribs, Camptodactyly of finger, Flexion contracture, Limitation of joint mobility, Spina... ORPHA:217093
Autosomal Recessive Malignant Osteopetrosis
Recurrent fractures, Craniosynostosis, Hydrocephalus, Bone pain, Abnormal rib morphology, Reduced... ORPHA:667
Charge Syndrome
Facial palsy, Aqueductal stenosis, Abnormal rib morphology, Hemivertebrae, Optic atrophy, Holopro... ORPHA:138
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Aplasia of the epiglottis, Short ribs, Narrow chest, Short clavicles, Horizontal ribs OMIM:617088
Cranioectodermal Dysplasia 2
Joint laxity, Craniosynostosis, Short neck, Pectus excavatum, Short ribs, Narrow chest, Metopic s... OMIM:613610
Hereditary Acrokeratotic Poikiloderma
Joint hyperflexibility, Abnormal rib morphology, Camptodactyly of finger ORPHA:2907
Fryns Syndrome
Short neck, Thin ribs, Camptodactyly, Broad ribs, Joint contracture of the hand, Thoracic hypoplasia OMIM:229850
Mandibuloacral Dysplasia Progeroid Syndrome
Osteopenia, Joint stiffness, Pectus excavatum, Flexion contracture, Osteolytic defects of the pha... OMIM:619127
Coccidioidomycosis
Osteomyelitis, Osteolysis, Arthritis, Abnormality of the vertebral column, Broad ribs ORPHA:228123
Kindler Epidermolysis Bullosa
Flexion contracture, Abnormal rib morphology, Camptodactyly of finger ORPHA:2908
Charge Syndrome
Down-sloping shoulders, Facial palsy, Radial head subluxation, Hemivertebrae, Abnormal rib morpho... OMIM:214800
Osteopetrosis, Autosomal Recessive 7
Multiple rib fractures, Osteopetrosis OMIM:612301
Wiedemann-Rautenstrauch Syndrome
Delayed closure of the anterior fontanelle, Short neck, Flexion contracture, Thin ribs, Narrow ch... OMIM:264090
Osteopetrosis With Renal Tubular Acidosis
Pectus excavatum, Osteopetrosis, Prominent floating ribs, Recurrent fractures ORPHA:2785
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 Mesp2

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 Mesp2.

No publications found that use IMPC mice or data for Mesp2.

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