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Gene: Phc2 MGI:1860454

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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:
polyhomeotic 2
Synonyms:
D4Ertd810e,  Edr2,  Mph2,  D130050K19Rik

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 Phc2 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.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Phc2 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Klippel-Feil Syndrome 3, Autosomal Dominant
Thoracic scoliosis, Cervical C3/C4 vertebral fusion, Cervical C5/C6 vertebrae fusion OMIM:613702
Spondylocostal Dysostosis 3, Autosomal Recessive
Contracture of the proximal interphalangeal joint of the 2nd finger, Kyphosis, Hypoplasia of the ... OMIM:609813
Spondylocostal Dysostosis 2, Autosomal Recessive
Short neck, Vertebral clefting, Rib fusion, Hemivertebrae, Vertebral segmentation defect OMIM:608681
Spondylocostal Dysostosis 1, Autosomal Recessive
Back pain, Vertebral fusion, Block vertebrae, Abnormal odontoid process morphology, Kyphoscoliosi... OMIM:277300
Spondylocostal Dysostosis 5
Vertebral fusion, Low back pain, Missing ribs, Short neck, Hemivertebrae, Pectus carinatum, Poste... OMIM:122600
Scheuermann Disease
Kyphosis, Osteochondrosis, Morbus Scheuermann OMIM:181440
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Finger syndactyly, Delayed skeletal maturation, Abnormality of the elbow, Abnormal rib morphology... ORPHA:3268
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome
Fused cervical vertebrae, Abnormal sacrum morphology, Thoracic hemivertebrae, Scoliosis ORPHA:1436
Klippel-Feil Syndrome 2, Autosomal Recessive
Short neck, Fused cervical vertebrae, Scoliosis, Cervical C2/C3 vertebral fusion, Sprengel anomaly OMIM:214300
Cervical Vertebral Dysplasia
Cervical vertebral dysplasia, Cervical vertebral facet hypoplasia, Anterior atlanto-occipital dis... OMIM:118005
Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome
Sacral dimple, Tarsal synostosis, Joint stiffness, Abnormal form of the vertebral bodies, Posteri... ORPHA:2064
Poland Syndrome
Syndactyly, Unilateral oligodactyly, Rib fusion, Unilateral brachydactyly, Hemivertebrae, Short r... OMIM:173800
Vertebral Fusion, Posterior Lumbosacral, With Blepharoptosis
Posterior fusion of lumbosacral vertebrae OMIM:192800
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods
Fusion of midcervical facet joints, Widening of cervical spinal canal, Cervical vertebral bodies ... OMIM:606842
Dwarfism With Tall Vertebrae
Increased vertebral height OMIM:126950
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B
Fused thoracic vertebrae, Tarsal synostosis, Short neck, Flexion contracture, Antecubital pterygi... OMIM:618469
Mental Retardation, Skeletal Dysplasia, And Abducens Palsy
Fused cervical vertebrae, Prominent metopic ridge, Thoracic hemivertebrae, Scoliosis OMIM:309620
Wildervanck Syndrome
Fused cervical vertebrae OMIM:314600
Microcephaly With Cervical Spine Fusion Anomalies
Vertebral fusion, Spinal instability OMIM:251250
Autosomal Dominant Spondylocostal Dysostosis
Short neck, Missing ribs, Hyperlordosis, Abnormal sacrum morphology, Short thorax, Abnormal rib m... ORPHA:1797
Isolated Klippel-Feil Syndrome
Short neck, Abnormal sacrum morphology, Abnormal rib morphology, Abnormal shoulder morphology, Ab... ORPHA:2345
Neurogenic Thoracic Outlet Syndrome
Abnormal rib morphology ORPHA:100073
Spondylometaphyseal Dysplasia, Type A4
Brachydactyly, Ovoid vertebral bodies, Coxa valga, Metaphyseal sclerosis, Enlargement of the cost... OMIM:609052
Cervical Rib
Cervical ribs OMIM:117900
Spondylometaphyseal Dysplasia, Corner Fracture Type
Ovoid vertebral bodies, Hypoplasia of the odontoid process, Coxa vara, Pectus carinatum, Hypercon... OMIM:184255
Diaphanospondylodysostosis
Missing ribs, Short neck, Short thorax, Enlarged thorax, Absent or minimally ossified vertebral b... ORPHA:66637
Heart Defects-Limb Shortening Syndrome
Accelerated skeletal maturation, Kyphosis, Abnormal rib morphology, Abnormal form of the vertebra... ORPHA:1354
Becker Nevus Syndrome
Pectus excavatum, Kyphosis, Abnormal tibia morphology, Rib fusion, Pectus carinatum, Supernumerar... ORPHA:64755
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
Kyphomelic Dysplasia
Bowing of the long bones, Anterior rib cupping, Missing ribs, Lateral clavicle hook, Joint stiffn... ORPHA:1801
Familial Congenital Mirror Movements
Fused cervical vertebrae ORPHA:238722
Endosteal Hyperostosis, Worth Type
Sclerotic vertebral body, Generalized osteosclerosis, Abnormal rib morphology, Abnormal form of t... ORPHA:2790
Spondylometaphyseal Dysplasia, A4 Type
Limitation of joint mobility, Coxa vara, Platyspondyly, Flared, irregular rib ends, Short palm ORPHA:168555
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Abnormal clavicle morphology, Hyperlordosis, Short neck, Kyphosis, Pectus excavatum, Abnormal rib... ORPHA:2522
Femoral-Facial Syndrome
Short femur, Abnormal sacrum morphology, Rib fusion, Abnormal rib morphology, Coxa vara, Abnormal... ORPHA:1988
Mesomelic Dysplasia, Kantaputra Type
Camptodactyly of finger, Tarsal synostosis, Abnormality of the humerus, Abnormal rib morphology, ... ORPHA:1836
Autosomal Dominant Brachyolmia
Increased vertebral height, Platyspondyly, Short thorax, Kyphoscoliosis ORPHA:93304
Spondylocostal Dysostosis 4, Autosomal Recessive
Vertebral fusion, Abnormal odontoid process morphology, Block vertebrae, Missing ribs, Pectus exc... OMIM:613686
Sprengel Deformity
Rib segmentation abnormalities, Cervical segmentation defect, Hemivertebrae, Scoliosis, Sprengel ... OMIM:184400
Metatropic Dysplasia
Abnormal metaphyseal vascular invasion, Enlarged joints, Flexion contracture, Long coccyx, Halber... OMIM:156530
Spondylocostal Dysostosis 6, Autosomal Recessive
Cervical kyphosis, Hemivertebrae, Spinal canal stenosis, Scoliosis, Butterfly vertebrae OMIM:616566
Thoracolaryngopelvic Dysplasia
Metaphyseal widening, Irregular chondrocostal junctions, Bell-shaped thorax, Narrow pelvis bone, ... OMIM:187760
Wildervanck Syndrome
Fused cervical vertebrae, Short neck ORPHA:3456
Osteomesopyknosis
Increased bone mineral density, Sclerotic vertebral body, Kyphosis, Abnormal form of the vertebra... ORPHA:2777
Klippel-Feil Syndrome 1, Autosomal Dominant
Short neck, Abnormal rib morphology, Scoliosis, Cervical C2/C3 vertebral fusion, Sprengel anomaly... OMIM:118100
Metatropic Dysplasia
Abnormal intervertebral disk morphology, Camptodactyly of finger, Abnormal enchondral ossificatio... ORPHA:2635
Multiple Synostoses Syndrome 2
Vertebral fusion, Tarsal synostosis, Humeroradial synostosis, Finger symphalangism, Proximal symp... OMIM:610017
Ankylosing Vertebral Hyperostosis With Tylosis
Vertebral hyperostosis OMIM:106400
Osteoarthritis With Mild Chondrodysplasia
Heberden's node, Joint stiffness, Knee osteoarthritis, Schmorl's node, Irregular vertebral endpla... OMIM:604864
Autosomal Recessive Spondylocostal Dysostosis
Rib segmentation abnormalities, Finger syndactyly, Abnormal intervertebral disk morphology, Campt... ORPHA:2311
Acromesomelic Dysplasia, Maroteaux Type
Bowing of the long bones, Ovoid vertebral bodies, Hyperlordosis, Joint stiffness, Kyphosis, Abnor... ORPHA:40
Spondyloepiphyseal Dysplasia Tarda, Kohn Type
Abnormality of the knee, Restricted large joint movement, Platyspondyly, Abnormality of the ankle... ORPHA:163665
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Superior rib anomalies, Abnormality of the cervical spine OMIM:307500
Osteogenesis Imperfecta, Type Ix
Recurrent fractures, Beaded ribs, Pectus excavatum, Kyphosis, Multiple prenatal fractures, Pectus... OMIM:259440
Galactosialidosis
Abnormality of the vertebral column, Abnormal vertebral morphology ORPHA:351
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome
Abnormal rib morphology ORPHA:2435
Spondyloepimetaphyseal Dysplasia, Irapa Type
Short metacarpal, Limitation of joint mobility, Osteoarthritis, Abnormal joint morphology, Short ... ORPHA:93351
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Broad toe, Lumbar hyperlordosis, Enlarged metacarpal epiphyses, Cupped ribs, Enlarged epiphyses o... OMIM:609616
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type
Lumbar hyperlordosis, Decreased hip abduction, Flat capital femoral epiphysis, Genu valgum, Pectu... OMIM:609223
Spondyloepimetaphyseal Dysplasia, Irapa Type
Metaphyseal dysplasia, Short metacarpal, Lumbar hyperlordosis, Hypoplastic sacrum, Enlargement of... OMIM:271650
Acropectorovertebral Dysplasia
Finger syndactyly, Toe syndactyly, Bifid distal phalanx of the thumb, Capitate-hamate fusion, Abn... OMIM:102510
Metaphyseal Chondrodysplasia, Schmid Type
Broad proximal phalanges of the hand, Bowing of the legs, Short tubular bones of the hand, Proxim... ORPHA:174
Second Metatarsal-Metacarpal Syndrome
Platyspondyly, Synostosis of carpals/tarsals OMIM:269630
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type
Dysplastic iliac wing, Lumbar hyperlordosis, Metaphyseal spurs, Ovoid vertebral bodies, Bowing of... OMIM:608728
Kniest Dysplasia
Arthropathy, Enlarged epiphyses, Enlarged joints, Abnormality of the epiphysis of the femoral hea... ORPHA:485
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Vertebral fusion, Sacral dimple, Short thorax, Vertebral segmentation defect OMIM:618845
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly
Lateral clavicle hook, Postaxial hand polydactyly, Postaxial foot polydactyly, Trident acetabulum... OMIM:617405
Spondylocamptodactyly Syndrome
Platyspondyly, Camptodactyly of finger, Scoliosis ORPHA:3180
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 With Joint Laxity, Type 3
Joint laxity, Hypoplasia of the ulna, Tapered finger, Short neck, Multiple joint dislocation, Hip... OMIM:618395
Spondylometaphyseal Dysplasia, Axial
Anterior rib cupping, Proximal femoral metaphyseal irregularity, Coxa vara, Platyspondyly, Narrow... OMIM:602271
Fibrochondrogenesis 2
Hypoplastic ischia, Hypoplastic ilia, Cupped ribs, Metaphyseal widening, Hypoplastic pubic bone, ... OMIM:614524
Thrombocytopenia-Absent Radius Syndrome
Finger syndactyly, Tibial torsion, Aplasia/hypoplasia of the humerus, Absent radius, Coxa valga, ... ORPHA:3320
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2
Vertebral segmentation defect, Abnormal rib morphology, Short neck ORPHA:2578
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Vertebral fusion, Block vertebrae, Short neck, Missing ribs, Rib fusion, Hemivertebrae, Thin ribs... OMIM:271520
Becker Nevus Syndrome
Pectus excavatum, Cervical ribs, Hemivertebrae, Scoliosis OMIM:604919
Osteogenesis Imperfecta, Type Xv
Recurrent fractures, Thin ribs, Platyspondyly, Bowing of limbs due to multiple fractures, Scolios... OMIM:615220
Epiphyseal Dysplasia, Multiple, 6
Abnormality of the knee, Flat distal femoral epiphysis, Flat capital femoral epiphysis, Osteoarth... OMIM:614135
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome
Brachydactyly, Bifid distal phalanx of the thumb, Triangular shaped distal phalanx of the thumb, ... ORPHA:370010
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Short metacarpal, Ovoid vertebral bodies, Joint stiffness, Cupped ribs, Metaphyseal widening, Cox... OMIM:608940
Spondylometaphyseal Dysplasia, Kozlowski Type
Enlarged joints, Irregular, rachitic-like metaphyses, Short neck, Coxa vara, Pectus carinatum, Ha... OMIM:184252
Spondyloepimetaphyseal Dysplasia, Missouri Type
Radial bowing, Irregular sclerotic endplates, Ulnar bowing, Osteoarthritis, Flared metaphysis, De... OMIM:602111
Kuskokwim Syndrome
Abnormal clavicle morphology, Aplasia/Hypoplasia of the patella, Joint stiffness, Abnormal form o... ORPHA:1149
Cerebrofaciothoracic Dysplasia
Short neck, Rib fusion, Hemivertebrae, Vertebral segmentation defect, Narrow chest, Bifid ribs, S... ORPHA:1394
Axial Spondylometaphyseal Dysplasia
Osteopenia, Aplasia/Hypoplasia of the vertebrae, Thoracic scoliosis, Proximal femoral metaphyseal... ORPHA:168549
Stapes Ankylosis With Broad Thumbs And Toes
Fused cervical vertebrae, Proximal/middle symphalangism of 5th finger OMIM:184460
Acrodysplasia Scoliosis
Vertebral segmentation defect, Spina bifida occulta, Scoliosis ORPHA:2956
Lamb-Shaffer Syndrome
Fused cervical vertebrae, Thoracic kyphosis, Scoliosis ORPHA:530983
Spondyloepimetaphyseal Dysplasia, Strudwick Type
Brachydactyly, Club-shaped proximal femur, Anterior rib cupping, Hyperlordosis, Hypoplasia of the... OMIM:184250
Spondyloepiphyseal Dysplasia, Maroteaux Type
Platyspondyly, Genu valgum OMIM:184095
Spondylosis, Cervical
Osteoarthritis, Cervical spondylosis, Spondylolysis, Spina bifida occulta, Spondylolisthesis OMIM:184300
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Osteopenia, Osteomyelitis, Osteolysis, Fused cervical vertebrae, Joint swelling, Flaring of rib c... OMIM:612852
Fibrodysplasia Ossificans Progressiva
Hallux valgus, Small cervical vertebral bodies, Progressive cervical vertebral spine fusion, Ecto... OMIM:135100
Frontometaphyseal Dysplasia 1
Scapular winging, Dislocated radial head, Limited elbow movement, Interphalangeal joint contractu... OMIM:305620
Pseudoachondroplasia
Genu recurvatum, Limited hip extension, Spatulate ribs, Delayed epiphyseal ossification, Metaphys... OMIM:177170
Lethal Congenital Contracture Syndrome Type 1
Recurrent fractures, Short neck, Abnormality of the elbow, Abnormal rib morphology, Limitation of... ORPHA:1486
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome
Short neck, Abnormal rib morphology, Hemivertebrae, Abnormal form of the vertebral bodies, Abnorm... ORPHA:2234
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Abnormal clavicle morphology, Bowing of the long bones, Proximal placement of thumb, Short neck, ... ORPHA:93267
Multiple Pterygium Syndrome, Escobar Variant
Multiple joint contractures, Short neck, Flexion contracture, Knee flexion contracture, Intercrur... OMIM:265000
Diastrophic Dysplasia
Joint dislocation, Abnormal clavicle morphology, Proximal placement of thumb, Symphalangism affec... ORPHA:628
Juberg-Hayward Syndrome
Toe syndactyly, Short thumb, Hypoplasia of the radius, Abnormal finger morphology, Abnormal rib m... ORPHA:2319
Pontine Tegmental Cap Dysplasia
Ankle clonus, Rib fusion, Hemivertebrae, Scoliosis OMIM:614688
Vertebral Hypoplasia With Lumbar Kyphosis
Vertebral hypoplasia, Lumbar kyphosis OMIM:192900
Chromosome 8Q22.1 Duplication Syndrome
Hallux valgus, Short metacarpal, Enlarged interphalangeal joints, Genu recurvatum, Interphalangea... OMIM:151200
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia
Back pain, Enlarged epiphyses, Proximal placement of thumb, Short neck, Flexion contracture, Coxa... OMIM:613330
Thoracomelic Dysplasia
Short neck, Hyperlordosis, Elbow dislocation, Abnormal fibula morphology, Genu valgum, Bell-shape... ORPHA:1803
Atelosteogenesis, Type I
Short neck, Short metatarsal, Tibial bowing, Knee dislocation, Narrow chest, Vertebral hypoplasia... OMIM:108720
Holt-Oram Syndrome
Abnormal clavicle morphology, Finger syndactyly, Down-sloping shoulders, Absent thumb, Pectus exc... ORPHA:392
Congenital Disorder Of Glycosylation, Type Iig
Osteopenia, Thoracic scoliosis, Kyphoscoliosis, Short neck, Squared iliac bones, Rib fusion, Post... OMIM:611209
Myotonia With Skeletal Abnormalities And Mental Retardation
Kyphoscoliosis, Irregular femoral epiphysis, Vertebral wedging, Genu valgum, Bell-shaped thorax, ... OMIM:255710
Osteogenesis Imperfecta, Type Vi
Joint laxity, Protrusio acetabuli, Vertebral compression fracture, Increased susceptibility to fr... OMIM:613982
Ehlers-Danlos Syndrome, Classic-Like, 2
Osteopenia, Thoracic scoliosis, Short neck, Facet joint arthrosis, Osteoarthritis, Generalized jo... OMIM:618000
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A
Barrel-shaped chest, Vertebral fusion, Hip contracture, Elbow contracture, Multiple pterygia, Sho... OMIM:178110
Jeune Syndrome
Abnormal clavicle morphology, Toe syndactyly, Postaxial hand polydactyly, Short thorax, Abnormal ... ORPHA:474
Thanatophoric Dysplasia, Type Ii
Small abnormally formed scapulae, Hypoplastic ilia, Wide-cupped costochondral junctions, Flared m... OMIM:187601
White Forelock With Malformations
Finger syndactyly, Delayed skeletal maturation, Abnormal rib morphology, Joint hyperflexibility, ... ORPHA:2475
Dyggve-Melchior-Clausen Disease
Glenoid fossa hypoplasia, Short neck, Coxa vara, Pectus carinatum, Broad ribs, Iliac crest serrat... ORPHA:239
Bruck Syndrome 1
Joint laxity, Hip contracture, Protrusio acetabuli, Ankle flexion contracture, Kyphosis, Osteopor... OMIM:259450
Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis
Cervical C2/C3 vertebral fusion, Joint hypermobility, Camptodactyly OMIM:617333
Brachydactyly, Type B1
Type B brachydactyly, Syndactyly, Vertebral fusion, Hypoplastic sacrum, Thoracolumbar scoliosis, ... OMIM:113000
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Pectus excavatum, Fused cervical vertebrae, Sprengel anomaly, Spina bifida occulta, Butterfly ver... OMIM:619227
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
11 pairs of ribs, Metaphyseal cupping of proximal phalanges, Thin ribs, Metaphyseal cupping of me... OMIM:300863
Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant
Barrel-shaped chest, Lumbar hyperlordosis, Kyphoscoliosis, Short neck, Avascular necrosis of the ... OMIM:184100
Craniodiaphyseal Dysplasia
Abnormal rib morphology, Diaphyseal thickening ORPHA:1513
Osteogenesis Imperfecta, Type Ii
Crumpled long bones, Broad long bones, Recurrent fractures, Beaded ribs, Multiple prenatal fractu... OMIM:166210
Kbg Syndrome
Syndactyly, Vertebral fusion, Short neck, Delayed skeletal maturation, Rib fusion, Vertebral arch... OMIM:148050
Proximal 16P11.2 Microdeletion Syndrome
Craniosynostosis, Rib fusion, Hand polydactyly, Scoliosis, Abnormal vertebral morphology ORPHA:261197
Developmental And Speech Delay Due To Sox5 Deficiency
Vertebral fusion, Thoracic kyphoscoliosis, Lumbar hyperlordosis, Pectus carinatum, Scoliosis, But... ORPHA:313892
Spinal Dysplasia, Anhalt Type
Osteoarthritis of the small joints of the hand, Thoracolumbar scoliosis, Absent spinous processes... OMIM:601344
Spondyloepiphyseal Dysplasia Tarda, X-Linked
Barrel-shaped chest, Back pain, Lumbar hyperlordosis, Short neck, Kyphosis, Limitation of joint m... OMIM:313400
Mucopolysaccharidosis Type 4
Joint dislocation, Bowing of the long bones, Coxa valga, Short neck, Hyperlordosis, Kyphosis, Sho... ORPHA:582
Autosomal Recessive Multiple Pterygium Syndrome
Finger syndactyly, Camptodactyly of finger, Multiple pterygia, Pectus excavatum, Limitation of jo... ORPHA:2990
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Sandal gap, Abnormal rib morphology, Hemivertebrae, Abnormal form of the vertebral bodies, Scolio... ORPHA:2180
Greenberg Dysplasia
Abnormally ossified vertebrae, Abnormal pelvis bone ossification, Anterior rib punctate calcifica... ORPHA:1426
Spondylometaphyseal Dysplasia, Algerian Type
Metaphyseal dysplasia, Lumbar hyperlordosis, Bowed humerus, Anterior rib cupping, Kyphoscoliosis,... OMIM:184253
Laryngotracheoesophageal Cleft Type 4
Abnormal rib morphology, Abnormal form of the vertebral bodies ORPHA:93941
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Postaxial polydactyly, Lateral clavicle hook, Bell-shaped thorax, Short long bone, Thoracic dyspl... OMIM:615633
Septopreoptic Holoprosencephaly
Abnormal rib morphology, Abnormal vertebral morphology ORPHA:280195
Schneckenbecken Dysplasia
Hypoplastic scapulae, Anterior rib cupping, Dumbbell-shaped long bone, Short neck, Lateral clavic... OMIM:269250
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
Dyggve-Melchior-Clausen Disease
Short neck, Metaphyseal widening, Flat glenoid fossa, Short metatarsal, Pectus carinatum, Femoral... OMIM:223800
Osteogenesis Imperfecta, Type Xxi
Barrel-shaped chest, Recurrent fractures, Bowing of the legs, Pectus excavatum, Coxa valga, Osteo... OMIM:619131
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Arachnodactyly, Missing ribs, Abnormal rib morphology, Hemivertebrae, Abnormal form of the verteb... ORPHA:2759
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Short neck, Narrow chest, Radial bowing, Dumbbell-shaped long bone, Flat acetabular roof, Decreas... OMIM:151210
Ophthalmoplegia, External, With Rib And Vertebral Anomalies
Missing ribs, Pectus excavatum, Pectus carinatum, Short ribs, Scoliosis, Pseudoarthrosis OMIM:618155
Robinow Syndrome, Autosomal Recessive 1
Short neck, Hemivertebrae, Short palm, Thoracic hemivertebrae, Duplication of the distal phalanx ... OMIM:268310
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness
Metaphyseal widening, Flat glenoid fossa, Coxa vara, Short palm, Genu varum, Joint laxity, Lumbar... OMIM:250420
Keratoconus Posticus Circumscriptus
Limited elbow extension and supination, Abnormal vertebral segmentation and fusion, Short neck OMIM:244600
Intellectual Developmental Disorder, Autosomal Dominant 52
Scapular winging, Lumbar hyperlordosis, Pectus carinatum, Lumbar scoliosis, Cervical C2/C3 verteb... OMIM:617796
Mosaic Trisomy 14
Camptodactyly of finger, Abnormal rib morphology, Narrow chest, Short neck ORPHA:1703
Mosaic Trisomy 20
Vertebral fusion, Down-sloping shoulders, Kyphosis, Spinal canal stenosis, Fused cervical vertebr... ORPHA:1724
Grant Syndrome
Joint dislocation, Bowing of the long bones, Abnormal rib morphology, Decreased skull ossificatio... ORPHA:2097
Phaver Syndrome
Broad hallux phalanx, Camptodactyly of finger, Joint stiffness, Short thumb, Abnormal rib morphol... ORPHA:2876
Osteogenesis Imperfecta, Type Xviii
Joint laxity, Bowing of the long bones, Recurrent fractures, Joint hypermobility, Femoral bowing,... OMIM:617952
Mucolipidosis Iii Gamma
Short neck, Flat capital femoral epiphysis, Hyperlordosis, Kyphosis, Joint stiffness, Genu valgum... OMIM:252605
Osteogenesis Imperfecta, Type Xvi
Angulated humerus, Multiple rib fractures, Bowing of the long bones, Osteopenia, Recurrent fractu... OMIM:616229
Mucopolysaccharidosis, Type Iva
Short neck, Epiphyseal deformities of tubular bones, Metaphyseal widening, Pectus carinatum, Flar... OMIM:253000
Melnick-Needles Syndrome
Bowing of the long bones, Delayed cranial suture closure, Coxa valga, Short thorax, Abnormal rib ... ORPHA:2484
3M Syndrome
Congenital hip dislocation, Short neck, Increased vertebral height, Enlarged thorax, Clinodactyly... ORPHA:2616
Spondylometaphyseal Dysplasia, Kozlowski Type
Short tubular bones of the hand, Increased intervertebral space, Delayed epiphyseal ossification,... ORPHA:93314
Cole-Carpenter Syndrome
Crumpled long bones, Bowing of the long bones, Recurrent fractures, Kyphosis, Abnormal rib morpho... ORPHA:2050
Thin Ribs-Tubular Bones-Dysmorphism Syndrome
Slender long bone, Abnormal pelvic girdle bone morphology, Abnormal rib morphology ORPHA:1506
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Bowing of the long bones, Radial bowing, Abnormally ossified vertebrae, Abnormal rib morphology, ... ORPHA:3035
Multiple Pterygium Syndrome, X-Linked
Joint dislocation, Vertebral fusion, Abnormal cervical curvature, Multiple pterygia, Flexion cont... OMIM:312150
Fibrochondrogenesis
Hypoplastic scapulae, Camptodactyly of finger, Short neck, Abnormal rib morphology, Abnormal form... ORPHA:2021
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome
Broad hallux phalanx, Toe syndactyly, Metatarsus valgus, Aplasia/Hypoplasia of toe, Short neck, P... ORPHA:3082
Ring Chromosome 21 Syndrome
Fused thoracic vertebrae, Syndactyly, Abnormal thorax morphology, Small hand, Scoliosis, Thoracic... ORPHA:1445
Achondrogenesis Type 1B
Short neck, Abnormal enchondral ossification, Short thorax, Abnormal rib morphology, Short foot, ... ORPHA:93298
Osteogenesis Imperfecta, Type Iii
Protrusio acetabuli, Recurrent fractures, Severe generalized osteoporosis, Multiple prenatal frac... OMIM:259420
Femoral-Facial Syndrome
Short third metatarsal, Short humerus, Short fourth metatarsal, Toe syndactyly, Short fifth metat... OMIM:134780
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy
Short neck, Metaphyseal widening, Flexion contracture, Coxa vara, Metaphyseal cupping of metacarp... OMIM:300232
Microphthalmia, Syndromic 3
Vertebral fusion, Missing ribs, Rib fusion, Hemivertebrae, Supernumerary ribs, Butterfly vertebra... OMIM:206900
Spondyloepimetaphyseal Dysplasia, Shohat Type
Joint laxity, Lumbar hyperlordosis, Short neck, Delayed epiphyseal ossification, Flared metaphysi... OMIM:602557
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
Beaking of vertebral bodies, Hyperextensibility of the finger joints, Vertebral fusion, Sacral di... OMIM:213980
Smith-Mccort Dysplasia 1
Short neck, Short phalanx of finger, Genu varum, Barrel-shaped chest, Short metacarpal, Iliac cre... OMIM:607326
Mucopolysaccharidosis, Type X
Irregular acetabular roof, Spatulate ribs, Broad clavicles, Hyperlordosis, Genu valgum, Hip dyspl... OMIM:619698
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
Short neck, Coxa vara, Tibial bowing, Pectus carinatum, Reduced bone mineral density, Hypoplastic... ORPHA:93315
Cooper-Jabs Syndrome
Camptodactyly of finger, Proximal placement of thumb, Missing ribs, Abnormal rib morphology, Redu... ORPHA:1488
Multiple Pterygium Syndrome, Lethal Type
Joint dislocation, Vertebral fusion, Abnormal cervical curvature, Multiple pterygia, Flexion cont... OMIM:253290
Cog1-Cdg
Osteopenia, Irregularity of vertebral bodies, Kyphoscoliosis, Coxa valga, Short neck, Rib fusion,... ORPHA:263508
Acrocapitofemoral Dysplasia
Short proximal phalanx of thumb, Coxa vara, Pectus carinatum, Narrow chest, Short palm, Hypoplast... OMIM:607778
Fibrochondrogenesis 1
Short neck, Narrow greater sciatic notch, Short palm, Clinodactyly of the 5th finger, Widely pate... OMIM:228520
Aicardi Syndrome
Block vertebrae, Missing ribs, Small hand, Rib fusion, Hip dysplasia, Supernumerary ribs, Bifid r... ORPHA:50
Mayer-Rokitansky-Küster-Hauser Syndrome
Vertebral fusion, Abnormal sacrum morphology, Abnormal form of the vertebral bodies, Vertebral se... ORPHA:3109
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Sprengel anomaly, Abnormality of the vertebral column, Abnormal rib morphology OMIM:601076
Kbg Syndrome
Vertebral fusion, Persistent open anterior fontanelle, Short neck, Delayed skeletal maturation, C... ORPHA:2332
Frontometaphyseal Dysplasia
Limited elbow movement, Metaphyseal widening, Short metatarsal, Sprengel anomaly, Spina bifida oc... ORPHA:1826
Shashi-Pena Syndrome
Accelerated skeletal maturation, Kyphosis, Osteoporosis, Scoliosis, Cervical C2/C3 vertebral fusion OMIM:617190
Achondrogenesis Type 1A
Multiple rib fractures, Recurrent fractures, Short neck, Abnormal enchondral ossification, Short ... ORPHA:93299
Dysosteosclerosis
Osteopenia, Sclerosis of hand bone, Increased intervertebral space, Hypoplastic vertebral bodies,... OMIM:224300
Sifrim-Hitz-Weiss Syndrome
Tapered finger, Flat acetabular roof, Fused cervical vertebrae, Short femoral neck, Short clavicl... OMIM:617159
Otopalatodigital Syndrome Type 1
Bowing of the long bones, Increased bone mineral density, Sandal gap, Short hallux, Proximal plac... ORPHA:90650
Thanatophoric Dysplasia, Type I
Bowing of the long bones, Small abnormally formed scapulae, Short neck, Hypoplastic ilia, Wide-cu... OMIM:187600
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia
Aplasia/Hypoplasia of the thumb, Short humerus, Long clavicles, Lateral clavicle hook, Absent rad... OMIM:171480
Thoracic Dysostosis, Isolated
Pectus excavatum, Short ribs, Bell-shaped thorax OMIM:187750
Endosteal Hyperostosis, Autosomal Dominant
Sclerotic vertebral body, Abnormal pelvic girdle bone morphology, Metacarpal diaphyseal endosteal... OMIM:144750
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly
Joint dislocation, Femoral bowing, Knee flexion contracture, Short 5th metacarpal, Radial bowing,... OMIM:618019
Idiopathic Juvenile Osteoporosis
Recurrent fractures, Kyphosis, Bone pain, Osteoporosis, Vertebral compression fracture ORPHA:85193
Spondyloepimetaphyseal Dysplasia, Shohat Type
Bowing of the legs, Short neck, Delayed epiphyseal ossification, Metaphyseal widening, Abnormal v... ORPHA:93352
Autosomal Recessive Robinow Syndrome
Short neck, Pectus carinatum, Vertebral segmentation defect, Clinodactyly of the 5th finger, Syno... ORPHA:1507
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Hypoplastic iliac wing, Metaphyseal chondrodysplasia, Abnormality of the calcaneus, Thin ribs, Me... ORPHA:163966
Osteogenesis Imperfecta, Type Viii
Barrel-shaped chest, Osteopenia, Short metacarpal, Radial bowing, Joint laxity, Recurrent fractur... OMIM:610915
Infantile-Onset X-Linked Spinal Muscular Atrophy
Hip contracture, Interphalangeal joint contracture of finger, Kyphoscoliosis, Ankle flexion contr... ORPHA:1145
Fanconi Anemia, Complementation Group I
Fused cervical vertebrae, Short neck OMIM:609053
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Osteopenia, Increased bone mineral density, Coxa valga, Short tubular bones of the hand, Vertebra... ORPHA:85184
Cenani-Lenz Syndrome
Hypoplasia of the ulna, Finger syndactyly, Toe syndactyly, Elbow dislocation, Short thumb, Hypopl... ORPHA:3258
Mucopolysaccharidosis, Type Iiia
Thickened ribs, Joint stiffness, Ovoid thoracolumbar vertebrae, Scoliosis, Dense calvaria OMIM:252900
Aicardi Syndrome
Block vertebrae, Proximal placement of thumb, Missing ribs, Rib fusion, Hemivertebrae, Supernumer... OMIM:304050
Achondrogenesis, Type Ia
Abnormal femoral metaphysis morphology, Beaded ribs, Bowing of the legs, Short neck, Abnormal han... OMIM:200600
Arnold-Chiari Malformation Type I
Stiff neck, Fused cervical vertebrae, Scoliosis, Cervical C2/C3 vertebral fusion, Anteriorly plac... ORPHA:268882
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome
Vertebral fusion, Elbow dislocation, Kyphosis, Hemivertebrae, Abnormal form of the vertebral bodi... ORPHA:2916
Achondrogenesis, Type Ii
Barrel-shaped chest, Absent vertebral body mineralization, Broad long bones, Short tubular bones ... OMIM:200610
Holzgreve Syndrome
Abnormally ossified vertebrae, Abnormal morphology of ulna, Joint stiffness, Abnormal rib morphol... ORPHA:2167
Lethal Kniest-Like Dysplasia
Abnormal ischium morphology, Broad long bones, Anterior rib cupping, Short neck, Hypoplastic ilia... ORPHA:2347
Microcephalic Primordial Dwarfism, Toriello Type
Delayed skeletal maturation, Abnormal rib morphology, Abnormal epiphysis morphology, Brachydactyly ORPHA:2643
Bent Bone Dysplasia Syndrome 2
Osteopenia, Bowed humerus, Short neck, Ulnar bowing, Femoral bowing, Thin ribs, Coronal cleft ver... OMIM:620076
Short Stature And Facioauriculothoracic Malformations
Abnormal odontoid process morphology, Short neck, Pectus excavatum, Pectus carinatum, Cervical ribs OMIM:609654
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
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Proximal placement of thumb, Abnormal thumb morphology, Short thumb, Preaxial hand polydactyly, A... ORPHA:1120
Mucopolysaccharidosis, Type Ivb
Epiphyseal deformities of tubular bones, Metaphyseal widening, Flaring of rib cage, Joint laxity,... OMIM:253010
Spondylometaphyseal Dysplasia, Sedaghatian Type
Short metacarpal, Abnormal scapula morphology, Iliac crest serration, Accelerated skeletal matura... ORPHA:93317
Mucopolysaccharidosis, Type Iiib
Thickened ribs, Ovoid thoracolumbar vertebrae, Dense calvaria, Joint stiffness OMIM:252920
Mucopolysaccharidosis Type 6
Epiphyseal dysplasia, Ovoid vertebral bodies, Short neck, Joint stiffness, Kyphosis, Genu valgum,... ORPHA:583
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome
Sacral dimple, Tapered toe, Tapered finger, Rib fusion, Clinodactyly of the 5th finger ORPHA:544488
Pallister-Hall Syndrome
Syndactyly, Mesoaxial foot polydactyly, Toe syndactyly, Mesoaxial hand polydactyly, Postaxial han... OMIM:146510
10Q22.3Q23.3 Microduplication Syndrome
Abnormal clavicle morphology, Abnormal rib morphology ORPHA:276422
Acro-Renal-Mandibular Syndrome
Abnormal clavicle morphology, Hypoplasia of the ulna, Hypoplastic scapulae, Finger syndactyly, Sh... ORPHA:958
Three M Syndrome 2
Scapular winging, Lumbar hyperlordosis, Short neck, Hyperlordosis, Delayed skeletal maturation, S... OMIM:612921
Wolf-Hirschhorn Syndrome
Rib segmentation abnormalities, Hypoplastic pubic ramus, Sacral dimple, Arachnodactyly, Short hal... ORPHA:280
Mucolipidosis Iii Alpha/Beta
Soft tissue swelling of interphalangeal joints, Craniosynostosis, Irregular carpal bones, Split h... OMIM:252600
Craniodiaphyseal Dysplasia, Autosomal Dominant
Thickened ribs, Craniofacial osteosclerosis, Diaphyseal sclerosis, Cortical sclerosis OMIM:122860
Cardiospondylocarpofacial Syndrome
Joint laxity, Tarsal synostosis, Delayed skeletal maturation, Rib fusion, Cone-shaped epiphysis, ... OMIM:157800
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome
Hyperlordosis, Delayed skeletal maturation, Limitation of joint mobility, Abnormal rib morphology... ORPHA:3068
Hypophosphatasia
Bowing of the long bones, Recurrent fractures, Craniosynostosis, Abnormal rib morphology, Narrow ... ORPHA:436
Cole-Carpenter Syndrome 2
Osteopenia, Wide cranial sutures, Recurrent fractures, Pectus excavatum, Kyphosis, Thin ribs, Pla... OMIM:616294
Duane-Radial Ray Syndrome
Syndactyly, Hypoplasia of the ulna, Short humerus, Sandal gap, Absent thumb, Absent radius, Short... OMIM:607323
Gorlin Syndrome
Vertebral fusion, Vertebral wedging, Hemivertebrae, Scoliosis ORPHA:377
Thakker-Donnai Syndrome
Cervical C2/C3 vertebral fusion, Hemivertebrae, Short neck ORPHA:1780
Thoracic Outlet Syndrome
Abnormal rib morphology ORPHA:97330
Kyphomelic Dysplasia
Short humerus, Short metacarpal, Radial bowing, Short femur, Anterior rib cupping, Bowed humerus,... OMIM:211350
Spondyloepimetaphyseal Dysplasia, X-Linked
Anterior wedging of T12, Pectus carinatum, Long fibula, Short palm, Short phalanx of finger, Broa... OMIM:300106
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Ivory epiphyses, Short metacarpal, Bowing of the long bones, Metaphyseal spurs, Ovoid vertebral b... ORPHA:85167
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Thoracic scoliosis, Short neck, Generalized joint laxity, Thoracic kyphosis, Hypermobility of int... ORPHA:508498
Mucopolysaccharidosis, Type Iiic
Thickened ribs, Kyphoscoliosis, Joint stiffness, Ovoid thoracolumbar vertebrae, Beaking of verteb... OMIM:252930
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Vertebral fusion, Hyperlordosis, Kyphosis, Achilles tendon contracture, Scoliosis OMIM:607155
Alkaptonuria
Arthropathy, Vertebral fusion, Low back pain, Kyphosis, Limited shoulder movement, Arthritis, Lim... OMIM:203500
Cantú Syndrome
Finger syndactyly, Broad hallux phalanx, Ovoid vertebral bodies, Short hallux, Coxa valga, Short ... ORPHA:1517
Osteogenesis Imperfecta, Type X
Osteopenia, Multiple rib fractures, Thoracic scoliosis, Short femur, Bowing of the long bones, Jo... OMIM:613848
Ossification Anomalies-Psychomotor Developmental Delay Syndrome
Abnormal thorax morphology, Metaphyseal widening, Abnormal form of the vertebral bodies, Triangul... ORPHA:73230
Spondylocarpotarsal Synostosis Syndrome
Short neck, Coxa vara, Pectus carinatum, Vertebral segmentation defect, Clinodactyly of the 5th f... OMIM:272460
Cat-Eye Syndrome
Hip dysplasia, Abnormal rib morphology ORPHA:195
Acromesomelic Dysplasia 4
Thoracic scoliosis, Accelerated skeletal maturation, Short metatarsal, Short phalanx of finger, G... OMIM:619636
Thrombocytopenia-Absent Radius Syndrome
Lateral clavicle hook, Femoral bowing, Abnormal shoulder morphology, Clinodactyly of the 5th fing... OMIM:274000
Cervical Ribs, Sprengel Anomaly, Anal Atresia, And Urethral Obstruction
Preaxial hand polydactyly, Sprengel anomaly, Cervical ribs, Thoracolumbar scoliosis OMIM:601389
Cleidocranial Dysplasia
Coxa vara, Narrow chest, Hypoplastic inferior ilia, Clinodactyly of the 5th finger, Decreased sku... ORPHA:1452
X-Linked Hypophosphatemia
Bowing of the legs, Beaded ribs, Generalized osteosclerosis, Bone pain, Trapezoidal distal femora... ORPHA:89936
Pyknoachondrogenesis
Abnormal intramembranous ossification, Hypoplastic ischia, Short iliac bones, Short thorax, Abnor... ORPHA:3003
Verheij Syndrome
Joint laxity, Vertebral fusion, Short neck, Hemivertebrae, Hip dislocation, Scoliosis OMIM:615583
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Osteopenia, Multiple rib fractures, Short femur, Fractured radius, Decreased fibular diameter, Be... OMIM:616897
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Joint hyperflexibility, Decreased calvarial ossification, Abnormal rib morphology, Recurrent frac... ORPHA:2772
Familial Osteodysplasia, Anderson Type
Recurrent fractures, Aplastic clavicle, Missing ribs, Elbow dislocation, Kyphosis, Abnormal rib m... ORPHA:2769
Multiple Synostoses Syndrome 1
Hypoplastic spinal processes, Symphalangism affecting the phalanges of the hand, Cutaneous finger... OMIM:186500
Congenital Pseudoarthrosis Of The Clavicle
Congenital pseudoarthrosis of the clavicle, Osteoarthritis, Cervical ribs ORPHA:66630
Axial Mesodermal Dysplasia Spectrum
Abnormality of the knee, Short neck, Missing ribs, Abnormal rib morphology, Abnormal form of the ... ORPHA:1834
Spondylometaphyseal Dysplasia, Sedaghatian Type
Short neck, Delayed epiphyseal ossification, Long fibula, Narrow chest, Narrow greater sciatic no... OMIM:250220
Autosomal Recessive Kenny-Caffey Syndrome
Stenosis of the medullary cavity of the long bones, Thin clavicles, Delayed skeletal maturation, ... ORPHA:93324
Campomelia, Cumming Type
Bowing of the long bones, Abnormally ossified vertebrae, Abnormal thorax morphology, Abnormal rib... ORPHA:1318
Prune Belly Syndrome
Congenital hip dislocation, Pectus excavatum, Abnormal rib morphology, Vertebral segmentation def... ORPHA:2970
Brachytelephalangic Chondrodysplasia Punctata
Cervical kyphosis, Hypoplastic cervical vertebrae, Vertebral hypoplasia, Calcaneal epiphyseal sti... ORPHA:79345
Aarskog-Scott Syndrome
Finger syndactyly, Genu recurvatum, Camptodactyly of finger, Short neck, Pectus excavatum, Small ... ORPHA:915
Apert Syndrome
Syndactyly, Finger syndactyly, Limited elbow movement, Sagittal craniosynostosis, Craniosynostosi... OMIM:101200
Caudal Regression Syndrome
Missing ribs, Joint stiffness, Abnormal iliac wing morphology, Aplasia/Hypoplasia of the sacrum, ... ORPHA:3027
Poland Syndrome
Aplasia/Hypoplasia of the thumb, Short neck, Hemivertebrae, Pectus carinatum, Reduced bone minera... ORPHA:2911
Craniometadiaphyseal Dysplasia
Osteopenia, Broad long bones, Coxa valga, Cubitus valgus, Flared metaphysis, Genu valgum, Scleros... OMIM:269300
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe
Bifid sternum, Supraumbilical raphe OMIM:140850
Greenberg Dysplasia
Beaded ribs, Multiple prenatal fractures, Patchy variation in bone mineral density, Tetraphocomel... OMIM:215140
Robinow Syndrome
Fused thoracic vertebrae, Syndactyly, Brachydactyly, Kyphoscoliosis, Bifid distal phalanx of the ... ORPHA:97360
Sillence Syndrome
Back pain, Large iliac wing, Abnormal vertebral morphology, Large tarsal bones, Flat acetabular r... ORPHA:3168
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Bulging epiphyses, Enlargement of the ankles, Recurrent fractures, Bowing of the legs, Enlargemen... OMIM:600081
Vertebral Hypersegmentation And Orofacial Anomalies
Scapular winging, Pectus excavatum, Supernumerary ribs, Six lumbar vertebrae, Joint hypermobility OMIM:619122
Baller-Gerold Syndrome
Limited elbow movement, Patellar hypoplasia, Spina bifida occulta, Abnormal vertebral morphology,... OMIM:218600
Holt-Oram Syndrome
Syndactyly, Thoracic scoliosis, Hypoplasia of the ulna, Short humerus, Aplasia of the ulna, Pectu... OMIM:142900
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
Short neck, Metaphyseal widening, Delayed proximal femoral epiphyseal ossification, Flexion contr... OMIM:271640
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Hypoplasia of the ulna, Thoracic hypoplasia, Metaphyseal spurs, Postaxial polydactyly, Lateral cl... OMIM:613091
Wolf-Hirschhorn Syndrome
Rib segmentation abnormalities, Vertebral fusion, Sacral dimple, Pseudoepiphyses of the metacarpa... OMIM:194190
Cartilage-Hair Hypoplasia
Joint laxity, Metaphyseal dysplasia, Lumbar hyperlordosis, Flaring of lower rib cage, Hypoplasia ... OMIM:250250
Basal Cell Nevus Syndrome 1
Short distal phalanx of the thumb, Vertebral fusion, Down-sloping shoulders, Kyphoscoliosis, Hemi... OMIM:109400
Kenny-Caffey Syndrome, Type 1
Long clavicles, Delayed closure of the anterior fontanelle, Thin clavicles, Delayed skeletal matu... OMIM:244460
Radio-Renal Syndrome
Short neck, Hypoplasia of the radius, Abnormal rib morphology, Abnormality of the elbow, Abnormal... ORPHA:3015
Opsismodysplasia
Short metacarpal, Anterior rib cupping, Short neck, Hypoplasia of the odontoid process, Squared i... OMIM:258480
Cartilage-Hair Hypoplasia
Short neck, Accelerated skeletal maturation, Metaphyseal chondrodysplasia, Abnormal form of the v... ORPHA:175
Craniosynostosis, Herrmann-Opitz Type
Finger syndactyly, Craniosynostosis, Split hand, Abnormal rib morphology, Brachydactyly ORPHA:2145
Frontometaphyseal Dysplasia 2
Hip contracture, Congenital hip dislocation, Elbow contracture, Pectus excavatum, Fused cervical ... OMIM:617137
Mosaic Trisomy 8
Camptodactyly of finger, Short neck, Patellar aplasia, Abnormal rib morphology, Limitation of joi... ORPHA:96061
Zttk Syndrome
Craniosynostosis, Kyphosis, Flexion contracture, Rib fusion, Hemivertebrae, Small hand, Short foo... OMIM:617140
Orofaciodigital Syndrome Iii
Pectus excavatum, Kyphosis, Postaxial hand polydactyly, Postaxial foot polydactyly, Short sternum OMIM:258850
Gm1-Gangliosidosis, Type I
Thickened ribs, Short neck, Joint stiffness, Kyphosis, Hypoplastic vertebral bodies, Scoliosis, B... OMIM:230500
Shwachman-Diamond Syndrome 1
Anterior rib cupping, Ovoid vertebral bodies, Metaphyseal sclerosis, Enlargement of the costochon... OMIM:260400
Apert Syndrome
Vertebral segmentation defect, Cervical C5/C6 vertebrae fusion ORPHA:87
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Syndactyly, Thoracic hypoplasia, Postaxial polydactyly, Lateral clavicle hook, Hypoplastic ilia, ... OMIM:617895
Larsen Syndrome
Joint laxity, Vertebral fusion, Cervical kyphosis, Pectus excavatum, Elbow dislocation, Dislocate... OMIM:150250
Renpenning Syndrome
Joint stiffness, Pectus excavatum, Abnormal thumb morphology, Abnormal rib morphology, Clinodacty... ORPHA:3242
Antley-Bixler Syndrome
Arachnodactyly, Camptodactyly of finger, Craniosynostosis, Recurrent fractures, Joint stiffness, ... ORPHA:83
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type
Bowing of the legs, Short neck, Pectus carinatum, Abnormal calcification of the carpal bones, Tri... OMIM:271665
Alagille Syndrome
Hypoplasia of the ulna, Delayed skeletal maturation, Abnormal rib morphology, Abnormal form of th... ORPHA:52
Autosomal Dominant Popliteal Pterygium Syndrome
Finger syndactyly, Toe syndactyly, Joint stiffness, Split hand, Abnormal rib morphology, Poplitea... ORPHA:1300
Osteogenesis Imperfecta, Type Vii
Osteopenia, Multiple rib fractures, Crumpled long bones, Wide cranial sutures, Protrusio acetabul... OMIM:610682
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development
Hypoplasia of the ulna, Short femur, Absent thumb, Delayed skeletal maturation, Fibular hypoplasi... OMIM:612447
Otopalatodigital Syndrome Type 2
Bowing of the long bones, Increased bone mineral density, Tarsal synostosis, Short hallux, Campto... ORPHA:90652
Acrorenal-Mandibular Syndrome
Hypoplasia of the ulna, Hypoplastic scapulae, Toe syndactyly, Kyphoscoliosis, Missing ribs, Split... OMIM:200980
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development
Craniosynostosis, Thin ribs, Slender long bone, Decreased calvarial ossification, Arthrogryposis ... OMIM:618265
Chops Syndrome
Tracheomalacia, Cervical C2/C3 vertebral fusion OMIM:616368
Lymphangiectasia, Intestinal
Prominent floating ribs OMIM:152800
Xylt1-Cdg
Joint dislocation, Joint laxity, Coxa valga, Accelerated skeletal maturation, Flared metaphysis, ... ORPHA:370930
Mucopolysaccharidosis, Type Vii
Spatulate ribs, Short neck, Accelerated skeletal maturation, Flexion contracture, Pectus carinatu... OMIM:253220
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Bulging epiphyses, Enlargement of the ankles, Recurrent fractures, Bowing of the legs, Enlargemen... OMIM:241530
Tetraamelia-Multiple Malformations Syndrome
Aplasia/Hypoplasia involving the pelvis, Abnormally ossified vertebrae, Abnormal rib morphology, ... ORPHA:3301
Sclerosteosis 1
Syndactyly, Sclerotic scapulae, Broad clavicles, 2-3 finger syndactyly, Deviation of finger, Abno... OMIM:269500
Trisomy 13
Kyphosis, Postaxial hand polydactyly, Abnormal rib morphology, Abnormal pelvic girdle bone morpho... ORPHA:3378
Meier-Gorlin Syndrome 1
Genu recurvatum, Lateral clavicle hook, Flat glenoid fossa, Hemivertebrae, Flexion contracture, P... OMIM:224690
Lateral Meningocele Syndrome
Vertebral fusion, Short neck, Pectus excavatum, Kyphosis, Sclerosis of skull base, Scoliosis, Wor... OMIM:130720
Schneckenbecken Dysplasia
Hypoplastic scapulae, Increased fibular diameter, Dumbbell-shaped long bone, Short neck, Lateral ... ORPHA:3144
Chromosome 16P13.3 Duplication Syndrome
Sacral dimple, Sandal gap, Rocker bottom foot, Proximal placement of thumb, Tapered finger, Pectu... OMIM:613458
Mucopolysaccharidosis, Type Vi
Metaphyseal widening, Flexion contracture, Pectus carinatum, Hypoplastic iliac wing, Broad ribs, ... OMIM:253200
1P36 Deletion Syndrome
11 pairs of ribs, Camptodactyly of finger, Joint stiffness, Kyphosis, Rib fusion, Spinal canal st... ORPHA:1606
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Long clavicles, Contracture of the distal interphalangeal joint of the fingers, Thin ribs, Cleft ... ORPHA:83617
Van Den Ende-Gupta Syndrome
Glenoid fossa hypoplasia, Lateral clavicle hook, 2-3 toe cutaneous syndactyly, Femoral bowing, Kn... OMIM:600920
Hurler Syndrome
Abnormal clavicle morphology, Camptodactyly of finger, Short neck, Abnormality of the elbow, Abno... ORPHA:93473
Lethal Congenital Contracture Syndrome 10
Thoracic scoliosis, Overlapping fingers, Stiff neck, Short neck, Femoral bowing, Short long bone,... OMIM:617022
Occipital Horn Syndrome
Joint laxity, Short humerus, Persistent open anterior fontanelle, Pelvic bone exostoses, Broad cl... OMIM:304150
Koolen-De Vries Syndrome
Vertebral fusion, Pectus excavatum, Kyphosis, Hip dislocation, Joint hyperflexibility, Vertebral ... ORPHA:96169
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
Osteopenia, Arachnodactyly, Joint hypermobility, Pectus excavatum, Delayed skeletal maturation, T... ORPHA:2463
Camptodactyly Syndrome, Guadalajara Type 3
Osteopenia, Short neck, Delayed skeletal maturation, Abnormal rib morphology, Small hand, Short f... ORPHA:488434
Kagami-Ogata Syndrome
Long clavicles, Kyphoscoliosis, Coxa valga, Long fingers, Flexion contracture, Thin ribs, Bell-sh... OMIM:608149
Eiken Syndrome
Broad femoral neck, Delayed epiphyseal ossification, Long thumb, Flat acetabular roof, Fibular hy... OMIM:600002
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Bulging epiphyses, Enlargement of the ankles, Recurrent fractures, Bowing of the legs, Subperiost... OMIM:264700
Ellis-Van Creveld Syndrome
Capitate-hamate fusion, Postaxial hand polydactyly, Pectus carinatum, Postaxial foot polydactyly,... OMIM:225500
Vacterl/Vater Association
Finger syndactyly, Abnormal intervertebral disk morphology, Preaxial hand polydactyly, Abnormal s... ORPHA:887
Scarf Syndrome
Craniosynostosis, Short neck, Abnormal form of the vertebral bodies, Pectus carinatum, Joint hype... ORPHA:3134
Multiple Pterygium-Malignant Hyperthermia Syndrome
Finger syndactyly, Prominent metopic ridge, Arachnodactyly, Camptodactyly of finger, Tapered fing... ORPHA:2215
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Lateral clavicle hook, Preaxial hand polydactyly, Postaxial hand polydactyly, Pectus carinatum, D... OMIM:263520
Fibrous Dysplasia Of Bone
Abnormal clavicle morphology, Abnormal morphology of the radius, Bowing of the long bones, Abnorm... ORPHA:249
Congenital Myopathy 22B, Severe Fetal
Hip contracture, Scapular winging, Thoracic scoliosis, Tapered toe, Shoulder flexion contracture,... OMIM:620369
Stuve-Wiedemann Syndrome 1
Enlarged joints, Short neck, Femoral bowing, Tibial bowing, Knee flexion contracture, Short tibia... OMIM:601559
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Short neck, Hemivertebrae, Pectus carinatum, Femoral bowing, Foot oligodactyly, Aplasia/Hypoplasi... OMIM:276820
X-Linked Myotubular Myopathy-Abnormal Genitalia Syndrome
Joint hypermobility, Thin ribs ORPHA:456328
Shprintzen-Goldberg Craniosynostosis Syndrome
Osteopenia, Joint laxity, Arachnodactyly, Genu recurvatum, Craniosynostosis, Lateral clavicle hoo... OMIM:182212
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Postaxial hand polydactyly, Abnormal rib morphology, Abnormal sternum morphology, Short ribs, Bro... ORPHA:2519
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Lumbar hyperlordosis, Arachnodactyly, Kyphoscoliosis, Absent thumb, Sagittal craniosynostosis, Ri... ORPHA:500150
Schwartz-Jampel Syndrome
Short neck, Coxa vara, Pectus carinatum, Wrist flexion contracture, Abnormally ossified vertebrae... ORPHA:800
Sacral Agenesis With Vertebral Anomalies
Absence of the sacrum, Vertebral clefting, Abnormal vertebral morphology OMIM:615709
Faciodigitogenital Syndrome, Autosomal Recessive
Syndactyly, Vertebral fusion, Down-sloping shoulders, Pectus excavatum, Metatarsus adductus, Hype... OMIM:227330
Pallister-Hall Syndrome
Mesoaxial polydactyly, Broad toe, Toe syndactyly, Overlapping toe, Radial bowing, Postaxial hand ... ORPHA:672
Lethal Congenital Contracture Syndrome 5
Congenital contracture, Flexion contracture, Thin ribs OMIM:615368
Aspergillosis
Abnormal long bone morphology, Abnormality of the vertebral column, Abnormal rib morphology, Oste... ORPHA:1163
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Hypoplastic pubic ramus, Proximal placement of thumb, Short neck, Short metatarsal, Patellar hypo... OMIM:609945
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Flexion contracture, Thin ribs OMIM:614833
Scarf Syndrome
Barrel-shaped chest, Short neck, Abnormal form of the vertebral bodies, Pectus carinatum, Short s... OMIM:312830
Cleidocranial Dysplasia 1
Persistent open anterior fontanelle, Short middle phalanx of the 2nd finger, Coxa vara, Narrow ch... OMIM:119600
Severe Congenital Nemaline Myopathy
Multiple prenatal fractures, Abnormal thorax morphology, Flexion contracture, Thin ribs, Arthrogr... ORPHA:171430
Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome
Finger syndactyly, Toe syndactyly, Elbow dislocation, Aplasia/Hypoplasia of the phalanges of the ... ORPHA:1112
Gm1 Gangliosidosis Type 1
Spatulate ribs, Pectus carinatum, Hypoplastic vertebral bodies, Flared iliac wing, Short long bon... ORPHA:79255
Chromosome 1P36 Deletion Syndrome, Distal
11 pairs of ribs, Camptodactyly of finger, Delayed closure of the anterior fontanelle, Metatarsus... OMIM:607872
Oculocerebrocutaneous Syndrome
Finger syndactyly, Congenital hip dislocation, Aplasia/Hypoplasia of the distal phalanges of the ... ORPHA:1647
Weill-Marchesani Syndrome 1
Lumbar hyperlordosis, Joint stiffness, Spinal canal stenosis, Scoliosis, Broad phalanges of the h... OMIM:277600
Monosomy 9Q22.3
Short neck, Pectus excavatum, Kyphosis, Accelerated skeletal maturation, Abnormal rib morphology,... ORPHA:77301
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Flexion contracture, Femoral bowing, Narrow chest, Abnormality of the wrist, Abnormal vertebral m... ORPHA:95699
Osteogenesis Imperfecta
Osteopenia, Cervical kyphosis, Abnormal tibia morphology, Osteoarthritis, Flexion contracture, Ab... ORPHA:666
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Hypoplasia of the ulna, Lateral clavicle hook, Early ossification of capital femoral epiphyses, C... OMIM:208500
Orofaciodigital Syndrome Type 3
Pectus excavatum, Postaxial hand polydactyly, Postaxial foot polydactyly, Short sternum, Thoracic... ORPHA:2752
Lenz-Majewski Hyperostotic Dwarfism
Joint laxity, Syndactyly, Hyperextensibility of the finger joints, Broad clavicles, Aplasia/Hypop... OMIM:151050
Mucopolysaccharidosis, Type Iiid
Epiphyseal dysplasia, Thoracic scoliosis, Thickened ribs, Pilonidal sinus, Short neck, Joint stif... OMIM:252940
Hypocalcemic Vitamin D-Dependent Rickets
Enlargement of the ankles, Wide cranial sutures, Osteomalacia, Irregular, rachitic-like metaphyse... ORPHA:289157
Koolen-De Vries Syndrome
Vertebral fusion, Sacral dimple, Prominent metopic ridge, Pectus excavatum, Kyphosis, Hip disloca... OMIM:610443
Premature Aging Syndrome, Penttinen Type
Brachydactyly, Recurrent fractures, Hyperextensibility of the knee, Delayed skeletal maturation, ... OMIM:601812
Nestor-Guillermo Progeria Syndrome
Wide cranial sutures, Limited elbow movement, Delayed closure of the anterior fontanelle, Joint s... OMIM:614008
Campomelic Dysplasia
Thoracic scoliosis, Anterior tibial bowing, Cervical kyphosis, Delayed epiphyseal ossification, P... OMIM:114290
Myhre Syndrome
Brachydactyly, Joint stiffness, Abnormal rib morphology, Platyspondyly, Abnormal epiphysis morpho... ORPHA:2588
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
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion
Long toe, Joint laxity, Overlapping toe, Pectus excavatum, Flexion contracture, Prominent sternum... ORPHA:254528
Gracile Bone Dysplasia
Flared metaphysis, Thin ribs, Slender long bone, Decreased skull ossification, Brachydactyly OMIM:602361
Kagami-Ogata Syndrome
Kyphoscoliosis, Short neck, Coxa valga, Limitation of joint mobility, Bell-shaped thorax, Coat ha... ORPHA:254519
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Postaxial polydactyly, Short neck, Lateral clavicle hook, Preaxial polydactyly, Hypoplastic pubic... OMIM:617925
Hyperparathyroidism, Transient Neonatal
Osteopenia, Wide cranial sutures, Short femur, Metaphyseal spurs, Recurrent fractures, Undulate r... OMIM:618188
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
Coat hanger sign of ribs, Thoracic hypoplasia ORPHA:254534
Trisomy 1Q
Toe syndactyly, Arachnodactyly, Camptodactyly of finger, Preaxial hand polydactyly, Short thorax,... ORPHA:261344
Myhre Syndrome
Vertebral fusion, Overlapping toe, Short neck, Joint stiffness, Short toe, Limitation of joint mo... OMIM:139210
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Bell-shaped thorax, Delayed skeletal maturation, Horizontal ribs OMIM:614857
Cerebrocostomandibular Syndrome
Rib gap, 10 pairs of ribs, 11 pairs of ribs, Congenital hip dislocation, Anomalous rib insertion ... OMIM:117650
Craniotubular Dysplasia, Ikegawa Type
Metaphyseal dysplasia, Increased intervertebral space, Broad ischia, Diaphyseal dysplasia, Platys... OMIM:619727
Acro-Renal-Ocular Syndrome
Hypoplasia of the ulna, Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Abnormal morphol... ORPHA:959
Short-Rib Thoracic Dysplasia 12
Hypoplastic scapulae, Bowing of the legs, Short neck, Short toe, Short thorax, Short foot, Short ... OMIM:269860
Elsahy-Waters Syndrome
Pectus excavatum, Cervical C2/C3 vertebral fusion OMIM:211380
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Posterior rib fusion, Butterfly vertebrae OMIM:265380
Myotubular Myopathy With Abnormal Genital Development
Joint hypermobility, Thin ribs OMIM:300219
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Short neck, Flexion contracture, Hemivertebrae, Tibial bowing, Narrow chest, Hypoplastic iliac wi... ORPHA:96334
Ulbright-Hodes Syndrome
Short humerus, Short metacarpal, Short neck, Humeroradial synostosis, Abnormal rib morphology, Hy... ORPHA:3404
Coffin-Lowry Syndrome
Hyperextensibility of the finger joints, Short metacarpal, Delayed closure of the anterior fontan... OMIM:303600
Weill-Marchesani Syndrome 2
Short metacarpal, Lumbar hyperlordosis, Joint stiffness, Delayed skeletal maturation, Short metat... OMIM:608328
Generalized Arterial Calcification Of Infancy
Abnormality of the knee, Osteomalacia, Stippled calcification of the shoulder, Abnormal calcifica... ORPHA:51608
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1
Joint dislocation, Osteopenia, Joint laxity, Congenital hip dislocation, Arachnodactyly, Protrusi... OMIM:225400
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Postaxial polydactyly, Unicoronal synostosis, Squared iliac bones, Preaxial polydactyly, Flat ace... OMIM:616300
Vater/Vacterl Association
Syndactyly, Absent radius, Short thumb, Hypoplasia of the radius, Preaxial polydactyly, Abnormal ... OMIM:192350
Schinzel-Giedion Midface Retraction Syndrome
Sacrococcygeal teratoma, Long clavicles, Increased density of long bones, Short neck, Wide distal... OMIM:269150
Osteopathia Striata With Cranial Sclerosis
Arachnodactyly, Delayed closure of the anterior fontanelle, Tracheomalacia, Pectus excavatum, Ost... OMIM:300373
Simpson-Golabi-Behmel Syndrome
Finger syndactyly, Vertebral fusion, Congenital hip dislocation, Toe syndactyly, Camptodactyly of... ORPHA:373
Alpha-Mannosidosis, Infantile Form
Osteopenia, Joint laxity, Thickened ribs, Craniosynostosis, Short neck, Pectus excavatum, Joint s... ORPHA:309282
Craniorachischisis
Bifid sternum ORPHA:63260
Waardenburg Syndrome, Type 1
Sprengel anomaly, Supernumerary ribs, Supernumerary vertebrae OMIM:193500
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Postaxial polydactyly, Postaxial hand polydactyly, Aplasia of the epiglottis, Cone-shaped epiphys... OMIM:617088
Cerebrocostomandibular Syndrome
Tracheomalacia, Kyphosis, Posterior rib gap, Bell-shaped thorax, Clinodactyly of the 5th finger ORPHA:1393
Hallermann-Streiff Syndrome
Tracheomalacia, Hyperlordosis, Pectus excavatum, Metaphyseal widening, Thin ribs, Abnormal rib ca... OMIM:234100
Autosomal Dominant Centronuclear Myopathy
Thin ribs ORPHA:169189
Monosomy 9P
Proximal placement of thumb, Short neck, Abnormality of the tarsal bones, Postaxial hand polydact... ORPHA:261112
Constricting Bands, Congenital
Abnormal rib cage morphology, Hand polydactyly, Scoliosis, Syndactyly OMIM:217100
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies
Tapered finger, Hyperlordosis, Hip dislocation, Genu valgum, Hip dysplasia, Broad ribs, Broad lon... OMIM:301066
Duane Retraction Syndrome
Short neck, Spina bifida occulta, Abnormal form of the vertebral bodies, Camptodactyly, Abnormal ... ORPHA:233
Dextrocardia
Congenital hip dislocation, Abnormal rib morphology ORPHA:1666
Mucopolysaccharidosis Type 3
Abnormal clavicle morphology, Joint stiffness, Avascular necrosis of the capital femoral epiphysi... ORPHA:581
Pseudo-Torch Syndrome 2
Thin ribs OMIM:617397
Fetal Akinesia Deformation Sequence 1
Hip contracture, Rocker bottom foot, Camptodactyly of finger, Short neck, Elbow contracture, Thin... OMIM:208150
Ear-Patella-Short Stature Syndrome
Camptodactyly of finger, Aplastic clavicle, Craniosynostosis, Elbow dislocation, Delayed skeletal... ORPHA:2554
Smith-Lemli-Opitz Syndrome
Finger syndactyly, Proximal placement of thumb, Short neck, Kyphosis, Postaxial hand polydactyly,... ORPHA:818
Autosomal Recessive Malignant Osteopetrosis
Bowing of the long bones, Recurrent fractures, Craniosynostosis, Abnormal rib morphology, Bone pa... ORPHA:667
Hereditary Acrokeratotic Poikiloderma
Finger syndactyly, Camptodactyly of finger, Abnormal rib morphology, Joint hyperflexibility, Abno... ORPHA:2907
Trisomy 18
Camptodactyly of finger, Postaxial hand polydactyly, Delayed skeletal maturation, Abnormal rib mo... ORPHA:3380
Alagille Syndrome 1
Hypoplasia of the ulna, Abnormal rib morphology, Hemivertebrae, Butterfly vertebral arch, Short d... OMIM:118450
Cranioectodermal Dysplasia 2
Joint laxity, Syndactyly, Craniosynostosis, Short neck, Pectus excavatum, Postaxial hand polydact... OMIM:613610
Fryns Syndrome
Rocker bottom foot, Proximal placement of thumb, Short neck, Short thumb, Thin ribs, Camptodactyl... OMIM:229850
Schinzel-Giedion Syndrome
Abnormal clavicle morphology, Sacrococcygeal teratoma, Overlapping fingers, Overlapping toe, Kyph... ORPHA:798
Mucopolysaccharidosis Type 2, Severe Form
Thickened ribs, Camptodactyly of finger, Flexion contracture, Limitation of joint mobility, Spina... ORPHA:217085
Oculocerebrorenal Syndrome Of Lowe
Osteomalacia, Recurrent fractures, Joint stiffness, Kyphosis, Abnormal rib morphology, Hip disloc... ORPHA:534
Mandibuloacral Dysplasia Progeroid Syndrome
Osteopenia, Sandal gap, Delayed cranial suture closure, Decreased fibular diameter, Pectus excava... OMIM:619127
Mucopolysaccharidosis Type 2, Attenuated Form
Thickened ribs, Camptodactyly of finger, Flexion contracture, Limitation of joint mobility, Spina... ORPHA:217093
Osteopetrosis, Autosomal Recessive 7
Multiple rib fractures, Femur fracture, Osteopetrosis OMIM:612301
Townes-Brocks Syndrome
Broad hallux phalanx, Toe syndactyly, Preaxial hand polydactyly, Partial duplication of thumb pha... ORPHA:857
Coccidioidomycosis
Osteomyelitis, Osteolysis, Abnormal long bone morphology, Arthritis, Abnormality of the vertebral... ORPHA:228123
Restrictive Dermopathy
Osteopenia, Thoracic kyphoscoliosis, Aplasia/Hypoplasia of the clavicles, Multiple joint contract... ORPHA:1662
Kindler Epidermolysis Bullosa
Finger syndactyly, Camptodactyly of finger, Flexion contracture, Abnormal rib morphology, Short 4... ORPHA:2908
Charge Syndrome
Abnormal tibia morphology, Abnormal rib morphology, Hemivertebrae, Bifid femur, Abnormality of bo... ORPHA:138
Pagod Syndrome
Abnormal clavicle morphology, Abnormal rib morphology ORPHA:991
Heterotaxy, Visceral, 1, X-Linked
Absence of the sacrum, Congenital hip dislocation, Block vertebrae OMIM:306955
Wiedemann-Rautenstrauch Syndrome
Long toe, Short humerus, Short femur, Delayed closure of the anterior fontanelle, Short neck, Hyp... OMIM:264090
Charge Syndrome
Hypoplasia of the ulna, Down-sloping shoulders, Absent radius, Short thumb, Radial head subluxati... OMIM:214800
Osteopetrosis With Renal Tubular Acidosis
Pectus excavatum, Osteopetrosis, Prominent floating ribs, Recurrent fractures ORPHA:2785
Craniofacial Microsomia 1
Block vertebrae, Partial duplication of thumb phalanx, Hemivertebrae, Genu valgum, Cervical ribs,... OMIM:164210

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 Phc2

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 Phc2.

No publications found that use IMPC mice or data for Phc2.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Phc2tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Phc2tm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells

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