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

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by 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
Cervical C5/C6 vertebrae fusion, Cervical C3/C4 vertebral fusion, Thoracic scoliosis OMIM:613702
Spondylocostal Dysostosis 3, Autosomal Recessive
Vertebral segmentation defect, Rib fusion, Kyphosis, Contracture of the proximal interphalangeal ... OMIM:609813
Spondylocostal Dysostosis 2, Autosomal Recessive
Vertebral segmentation defect, Rib fusion, Vertebral clefting, Hemivertebrae, Short neck OMIM:608681
Sacral Agenesis With Vertebral Anomalies
Abnormal vertebral morphology, Absence of the sacrum OMIM:615709
Chondrocalcinosis Due To Apatite Crystal Deposition
Intervertebral disk calcification, Osteoarthritis of the small joints of the hand, Costal cartila... OMIM:118610
Spondylocostal Dysostosis 4, Autosomal Recessive
Vertebral segmentation defect, Rib fusion, Hemivertebrae, Spina bifida occulta, Abnormal rib morp... OMIM:613686
Spondylocostal Dysostosis 1, Autosomal Recessive
Vertebral segmentation defect, Rib fusion, Kyphoscoliosis, Back pain, Hemivertebrae, Short neck, ... OMIM:277300
Familial Scheuermann Disease
Kyphosis, Abnormal form of the vertebral bodies ORPHA:3135
Spondylocostal Dysostosis 5
Butterfly vertebrae, Hemivertebrae, Short neck, Posterior rib fusion, Scoliosis, Pectus carinatum... OMIM:122600
Scheuermann Disease
Kyphosis, Osteochondrosis, Morbus Scheuermann OMIM:181440
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Clinodactyly of the 5th finger, Scoliosis, Pectus carinatum, Radioulnar synostosis, Abnormal rib ... ORPHA:3268
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome
Abnormal sacrum morphology, Fused cervical vertebrae, Thoracic hemivertebrae, Scoliosis ORPHA:1436
Klippel-Feil Syndrome 2, Autosomal Recessive
Cervical C2/C3 vertebral fusion, Sprengel anomaly, Short neck, Scoliosis, Fused cervical vertebrae OMIM:214300
Cervical Vertebral Dysplasia
Anterior atlanto-occipital dislocation, Cervical vertebral dysplasia, Cervical vertebral facet hy... OMIM:118005
Poland Syndrome
Sprengel anomaly, Rib fusion, Unilateral oligodactyly, Short ribs, Hemivertebrae, Unilateral brac... OMIM:173800
Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome
Posterior fusion of lumbosacral vertebrae, Joint stiffness, Abnormal form of the vertebral bodies... ORPHA:2064
Vertebral Fusion, Posterior Lumbosacral, With Blepharoptosis
Posterior fusion of lumbosacral vertebrae OMIM:192800
Dwarfism With Tall Vertebrae
Increased vertebral height OMIM:126950
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods
Cervical vertebral bodies with decreased anteroposterior diameter, Fusion of midcervical facet jo... OMIM:606842
Mental Retardation, Skeletal Dysplasia, And Abducens Palsy
Thoracic hemivertebrae, Fused cervical vertebrae, Prominent metopic ridge, Scoliosis OMIM:309620
Wildervanck Syndrome
Fused cervical vertebrae OMIM:314600
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B
Flexion contracture, Fused thoracic vertebrae, Short neck, Scoliosis, Fused cervical vertebrae, T... OMIM:618469
Microcephaly With Cervical Spine Fusion Anomalies
Vertebral fusion, Spinal instability OMIM:251250
Spondylometaphyseal Dysplasia, East African Type
Coxa vara, Metaphyseal spurs, Metaphyseal widening, Brachydactyly, Genu varum, Bell-shaped thorax... OMIM:611702
Autosomal Dominant Spondylocostal Dysostosis
Vertebral segmentation defect, Short neck, Posterior rib fusion, Scoliosis, Spina bifida occulta,... ORPHA:1797
Isolated Klippel-Feil Syndrome
Cervical C2/C3 vertebral fusion, Sprengel anomaly, Abnormal vertebral segmentation and fusion, Ab... ORPHA:2345
Spondylometaphyseal Dysplasia, Type A4
Sclerotic humeral metaphysis, Metaphyseal irregularity, Irregular capital femoral epiphysis, Broa... OMIM:609052
Neurogenic Thoracic Outlet Syndrome
Abnormal rib morphology ORPHA:100073
Asymmetric Short Stature Syndrome
Lumbar scoliosis, Fused cervical vertebrae OMIM:108450
Cervical Rib
Cervical ribs OMIM:117900
Spondylometaphyseal Dysplasia, Corner Fracture Type
Coxa vara, Metaphyseal irregularity, Scoliosis, Genu varum, Pectus carinatum, Short femoral neck,... OMIM:184255
Brachyolmia, Maroteaux Type
Pectus excavatum, Platyspondyly, Scoliosis, Abnormal form of the vertebral bodies, Short thorax ORPHA:93302
Familial Congenital Mirror Movements
Fused cervical vertebrae ORPHA:238722
Endosteal Hyperostosis, Worth Type
Clavicular sclerosis, Abnormal form of the vertebral bodies, Abnormal rib morphology, Sclerotic v... ORPHA:2790
Kyphomelic Dysplasia
Narrow chest, Joint stiffness, Undulate ribs, Anterior rib cupping, Abnormal form of the vertebra... ORPHA:1801
Becker Nevus Syndrome
Kyphosis, Rib fusion, Pectus excavatum, Scoliosis, Pectus carinatum, Spina bifida occulta, Abnorm... ORPHA:64755
Heart Defects-Limb Shortening Syndrome
Narrow chest, Kyphosis, Accelerated skeletal maturation, Abnormal form of the vertebral bodies, A... ORPHA:1354
Primary Basilar Invagination
Abnormal vertebral morphology, Short neck, Abnormality of the cervical spine ORPHA:2285
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Kyphosis, Pectus excavatum, Abnormal clavicle morphology, Short neck, Hyperlordosis, Abnormal rib... ORPHA:2522
Spondylometaphyseal Dysplasia, A4 Type
Coxa vara, Platyspondyly, Short palm, Flared, irregular rib ends, Limitation of joint mobility ORPHA:168555
Diaphanospondylodysostosis
Enlarged thorax, Abnormal vertebral segmentation and fusion, Short neck, Absent or minimally ossi... ORPHA:66637
Femoral-Facial Syndrome
Sprengel anomaly, Rib fusion, Vertebral segmentation defect, Coxa vara, Aplasia/Hypoplasia of the... ORPHA:1988
Autosomal Dominant Brachyolmia
Increased vertebral height, Kyphoscoliosis, Platyspondyly, Short thorax ORPHA:93304
Mesomelic Dysplasia, Kantaputra Type
Vertebral segmentation defect, Clinodactyly of the 5th finger, Camptodactyly of finger, Abnormali... ORPHA:1836
Sprengel Deformity
Sprengel anomaly, Hemivertebrae, Scoliosis, Spina bifida occulta, Cervical segmentation defect, R... OMIM:184400
Metatropic Dysplasia
Enlarged joints, Halberd-shaped pelvis, Cone-shaped epiphysis, Platyspondyly, Hyperplasia of the ... OMIM:156530
Spondylocostal Dysostosis 6, Autosomal Recessive
Spinal canal stenosis, Butterfly vertebrae, Hemivertebrae, Scoliosis, Cervical kyphosis OMIM:616566
Wildervanck Syndrome
Fused cervical vertebrae, Short neck ORPHA:3456
Thoracolaryngopelvic Dysplasia
Irregular vertebral endplates, Irregular chondrocostal junctions, Short ribs, Metaphyseal widenin... OMIM:187760
Dextrocardia With Unusual Facies And Microphthalmia
Vertebral segmentation defect, Supernumerary ribs, Vertebral fusion OMIM:221950
Osteoarthritis With Mild Chondrodysplasia
Irregular vertebral endplates, Beaking of vertebral bodies, Joint stiffness, Platyspondyly, Hip o... OMIM:604864
Metatropic Dysplasia
Narrow chest, Kyphosis, Abnormal enchondral ossification, Halberd-shaped pelvis, Clinodactyly of ... ORPHA:2635
Osteomesopyknosis
Kyphosis, Increased bone mineral density, Scoliosis, Abnormal form of the vertebral bodies, Scler... ORPHA:2777
Ankylosing Vertebral Hyperostosis With Tylosis
Vertebral hyperostosis OMIM:106400
Multiple Synostoses Syndrome 2
Carpal synostosis, Finger symphalangism, Proximal symphalangism, Tarsal synostosis, Humeroradial ... OMIM:610017
Klippel-Feil Syndrome 1, Autosomal Dominant
Cervical C2/C3 vertebral fusion, Sprengel anomaly, Abnormal vertebral segmentation and fusion, Sh... OMIM:118100
Spondyloepiphyseal Dysplasia Tarda, Kohn Type
Restricted large joint movement, Platyspondyly, Abnormality of the ankles, Abnormal vertebral mor... ORPHA:163665
Autosomal Recessive Spondylocostal Dysostosis
Vertebral segmentation defect, Rib fusion, Kyphosis, Camptodactyly of finger, Short neck, Scolios... ORPHA:2311
Acromesomelic Dysplasia, Maroteaux Type
Sprengel anomaly, Kyphosis, Beaking of vertebral bodies, Joint stiffness, Scoliosis, Abnormal for... ORPHA:40
Osteogenesis Imperfecta, Type Ix
Kyphosis, Recurrent fractures, Pectus excavatum, Decreased calvarial ossification, Platyspondyly,... OMIM:259440
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome
Abnormal rib morphology ORPHA:2435
Galactosialidosis
Abnormal vertebral morphology, Abnormality of the vertebral column ORPHA:351
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Abnormality of the cervical spine, Superior rib anomalies OMIM:307500
Spondyloepimetaphyseal Dysplasia, Irapa Type
Coxa vara, Limitation of joint mobility, Short metacarpal, Osteoarthritis, Platyspondyly, Synosto... ORPHA:93351
Vater-Like Defects With Pulmonary Hypertension, Laryngeal Webs, And Growth Deficiency
Pectus excavatum, Abnormal rib cage morphology, Hemivertebrae, Posterior rib fusion, Preaxial han... OMIM:608406
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type
Irregular vertebral endplates, Decreased hip abduction, Lumbar hyperlordosis, Flat capital femora... OMIM:609223
Spondyloepimetaphyseal Dysplasia, Irapa Type
Coxa vara, Metaphyseal dysplasia, Lumbar hyperlordosis, Hypoplastic sacrum, Osteoarthritis, Platy... OMIM:271650
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Irregular vertebral endplates, Beaking of vertebral bodies, Cone-shaped epiphyses of the phalange... OMIM:609616
Acropectorovertebral Dysplasia
Finger syndactyly, Radial deviation of the 2nd finger, Spina bifida occulta at L5, Spina bifida o... OMIM:102510
Metaphyseal Chondrodysplasia, Schmid Type
Femoral bowing, Platyspondyly, Short long bone, Metaphyseal irregularity, Metaphyseal cupping of ... ORPHA:174
Second Metatarsal-Metacarpal Syndrome
Platyspondyly, Synostosis of carpals/tarsals OMIM:269630
Kniest Dysplasia
Enlarged joints, Flexion contracture of finger, Platyspondyly, Short neck, Dumbbell-shaped long b... ORPHA:485
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type
Bowing of the legs, Pectus excavatum, Lumbar hyperlordosis, Metaphyseal spurs, Short long bone, D... OMIM:608728
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly
Narrow chest, Acetabular spurs, Short ribs, Trident acetabulum, Brachydactyly, Postaxial hand pol... OMIM:617405
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3
Irregular vertebral endplates, Metaphyseal irregularity, Dislocated radial head, Knee dislocation... OMIM:618395
Spondylocamptodactyly Syndrome
Camptodactyly of finger, Platyspondyly, Scoliosis ORPHA:3180
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism
Cervical C2/C3 vertebral fusion, Flexion contracture, Short neck, Thoracolumbar scoliosis, Acetab... OMIM:616549
Spondylometaphyseal Dysplasia, Axial
Narrow chest, Coxa vara, Narrow greater sciatic notch, Platyspondyly, Anterior rib cupping, Scoli... OMIM:602271
Thrombocytopenia-Absent Radius Syndrome
Aplasia/Hypoplasia of the ulna, Clinodactyly of the 5th finger, Coxa valga, Finger syndactyly, Ad... ORPHA:3320
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Vertebral segmentation defect, Vertebral fusion, Short thorax, Sacral dimple OMIM:618845
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A
Carpal synostosis, Hip contracture, Multiple pterygia, Spondylolisthesis, Craniosynostosis, Hemiv... OMIM:178110
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Rib fusion, Thin ribs, Short ribs, Supernumerary vertebrae, Hemivertebrae, Short neck, Scoliosis,... OMIM:271520
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Narrow chest, Metaphyseal cupping, Thin ribs, Short ribs, Disc-like vertebral bodies, Hypoplastic... OMIM:151210
Becker Nevus Syndrome
Hemivertebrae, Cervical ribs, Pectus excavatum, Scoliosis OMIM:604919
Fibrodysplasia Ossificans Progressiva
Clinodactyly of the 5th finger, Ectopic ossification in tendon tissue, Short 1st metacarpal, Meta... OMIM:135100
Osteogenesis Imperfecta, Type Xix
Recurrent fractures, Pectus excavatum, Osteopenia, Scoliosis, Biconcave vertebral bodies, Pectus ... OMIM:301014
Osteogenesis Imperfecta, Type Xv
Recurrent fractures, Thin ribs, Platyspondyly, Scoliosis, Joint hypermobility, Bowing of limbs du... OMIM:615220
Thanatophoric Dysplasia, Type Ii
Narrow chest, Wide-cupped costochondral junctions, Small abnormally formed scapulae, Metaphyseal ... OMIM:187601
Epiphyseal Dysplasia, Multiple, 6
Irregular vertebral endplates, Intervertebral disk calcification, Flat capital femoral epiphysis,... OMIM:614135
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia
Coxa vara, Metaphyseal irregularity, Metaphyseal dysplasia, Flexion contracture, Abnormally ossif... OMIM:613330
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2
Abnormal rib morphology, Short neck, Vertebral segmentation defect ORPHA:2578
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome
Cervical C2/C3 vertebral fusion, Short distal phalanx of finger, Short distal phalanx of the thum... ORPHA:370010
Spondyloepimetaphyseal Dysplasia, Strudwick Type
Metaphyseal irregularity, Coxa vara, Narrow greater sciatic notch, Club-shaped proximal femur, Pl... OMIM:184250
Spondylometaphyseal Dysplasia, Kozlowski Type
Enlarged joints, Cone-shaped epiphyses of the phalanges of the hand, Halberd-shaped pelvis, Short... OMIM:184252
Spondyloepimetaphyseal Dysplasia, Missouri Type
Coxa vara, Tibial bowing, Metaphyseal cupping, Radial bowing, Flared iliac wing, Femoral bowing, ... OMIM:602111
Kuskokwim Syndrome
Joint stiffness, Abnormal clavicle morphology, Aplasia/Hypoplasia of the patella, Scoliosis, Abno... ORPHA:1149
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Metaphyseal irregularity, Tibial bowing, Metaphyseal cupping, Coxa vara, Joint stiffness, Narrow ... OMIM:608940
Stapes Ankylosis With Broad Thumbs And Toes
Fused cervical vertebrae, Proximal/middle symphalangism of 5th finger OMIM:184460
Axial Spondylometaphyseal Dysplasia
Osteopenia, Platyspondyly, Upper limb undergrowth, Flared, irregular rib ends, Thoracic hypoplasi... ORPHA:168549
Lamb-Shaffer Syndrome
Fused cervical vertebrae, Thoracic kyphosis, Scoliosis ORPHA:530983
Acrocapitofemoral Dysplasia
Cone-shaped epiphyses of the phalanges of the hand, Pectus excavatum, Hypoplasia of the radius, C... OMIM:607778
Cerebrofaciothoracic Dysplasia
Sprengel anomaly, Rib fusion, Bifid ribs, Narrow chest, Vertebral segmentation defect, Hemiverteb... ORPHA:1394
Acrodysplasia Scoliosis
Vertebral segmentation defect, Scoliosis, Spina bifida occulta ORPHA:2956
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis
Joint swelling, Osteomyelitis, Osteopenia, Fused cervical vertebrae, Osteolysis, Flaring of rib c... OMIM:612852
Spondyloepiphyseal Dysplasia, Maroteaux Type
Genu valgum, Platyspondyly OMIM:184095
Spondylosis, Cervical
Spondylolisthesis, Spondylolysis, Osteoarthritis, Spina bifida occulta, Cervical spondylosis OMIM:184300
Frontometaphyseal Dysplasia 1
Cervical C2/C3 vertebral fusion, Carpal synostosis, Dislocated radial head, Craniosynostosis, Coa... OMIM:305620
Pseudoachondroplasia
Fragmented epiphyses, Irregular carpal bones, Fragmented, irregular epiphyses, Platyspondyly, Sma... OMIM:177170
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome
Abnormality of the humeroulnar joint, Hemivertebrae, Short neck, Abnormal form of the vertebral b... ORPHA:2234
Vertebral Hypoplasia With Lumbar Kyphosis
Vertebral hypoplasia, Lumbar kyphosis OMIM:192900
Juberg-Hayward Syndrome
Abnormality of finger, Hypoplasia of the radius, Scoliosis, Radioulnar synostosis, Abnormal rib m... ORPHA:2319
Dyggve-Melchior-Clausen Disease
Broad carpal bones, Short neck, Platyspondyly, Abnormality of the ankles, Pectus carinatum, Gleno... ORPHA:239
Lethal Congenital Contracture Syndrome Type 1
Recurrent fractures, Abnormal hip bone morphology, Short neck, Abnormal form of the vertebral bod... ORPHA:1486
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Narrow chest, Abnormal clavicle morphology, Platyspondyly, Short neck, Abnormal rib morphology, A... ORPHA:93267
Diastrophic Dysplasia
Abnormal clavicle morphology, Symphalangism affecting the phalanges of the hand, Ulnar deviation ... ORPHA:628
Multiple Pterygium Syndrome, Escobar Variant
Multiple joint contractures, Short neck, Down-sloping shoulders, Ulnar deviation of finger, Rocke... OMIM:265000
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Irregular vertebral endplates, Hip contracture, Kyphoscoliosis, Advanced ossification of carpal b... OMIM:618363
Pontine Tegmental Cap Dysplasia
Rib fusion, Hemivertebrae, Ankle clonus, Scoliosis OMIM:614688
Chromosome 8Q22.1 Duplication Syndrome
Cervical C2/C3 vertebral fusion, Broad metacarpals, Joint stiffness, Interphalangeal joint contra... OMIM:151200
Thoracomelic Dysplasia
Narrow chest, Short ribs, Short neck, Hyperlordosis, Bell-shaped thorax, Abnormality of fibula mo... ORPHA:1803
Atelosteogenesis, Type I
Aplasia/Hypoplasia of the ulna, Short neck, 11 pairs of ribs, Clubbing, Multinucleated giant chon... OMIM:108720
Holt-Oram Syndrome
Sprengel anomaly, Kyphosis, Joint stiffness, Abnormal clavicle morphology, Pectus excavatum, Abse... ORPHA:392
Osteogenesis Imperfecta, Type Vi
Beaking of vertebral bodies, Biconcave vertebral bodies, Protrusio acetabuli, Joint laxity, Verte... OMIM:613982
Myotonia With Skeletal Abnormalities And Mental Retardation
Kyphoscoliosis, Irregular femoral epiphysis, Pectus carinatum, Bell-shaped thorax, Genu valgum, V... OMIM:255710
Ehlers-Danlos Syndrome, Classic-Like, 2
Cervical C2/C3 vertebral fusion, Thoracic scoliosis, Knee dislocation, Generalized joint laxity, ... OMIM:618000
Jeune Syndrome
Narrow chest, Abnormal sternum morphology, Abnormal clavicle morphology, Cone-shaped epiphysis, B... ORPHA:474
White Forelock With Malformations
Sprengel anomaly, Clinodactyly of the 5th finger, Spina bifida occulta, Abnormal rib morphology, ... ORPHA:2475
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Sprengel anomaly, Pectus excavatum, Butterfly vertebrae, Spina bifida occulta, Fused cervical ver... OMIM:619227
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Metaphyseal cupping of proximal phalanges, Metaphyseal cupping, Thin ribs, Platyspondyly, 11 pair... OMIM:300863
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy
Prominent sternum, Short neck, Platyspondyly, Cone-shaped capital femoral epiphysis, Small epiphy... OMIM:300232
Spinal Dysplasia, Anhalt Type
Osteoarthritis of the small joints of the hand, Spinal dysplasia, Thoracolumbar scoliosis, Absent... OMIM:601344
Bruck Syndrome 1
Kyphosis, Hip contracture, Platyspondyly, Scoliosis, Osteoporosis, Pectus carinatum, Protrusio ac... OMIM:259450
Brachydactyly, Type B1
Joint contracture of the hand, Hypoplastic sacrum, Hemivertebrae, Delayed cranial suture closure,... OMIM:113000
Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant
Irregular vertebral endplates, Kyphoscoliosis, Lumbar hyperlordosis, Barrel-shaped chest, Platysp... OMIM:184100
Spondyloepiphyseal Dysplasia Tarda, X-Linked
Hump-shaped mound of bone in central and posterior portions of vertebral endplate, Kyphosis, Lumb... OMIM:313400
Craniodiaphyseal Dysplasia
Abnormal rib morphology, Diaphyseal thickening ORPHA:1513
Spondyloepimetaphyseal Dysplasia With Joint Laxity
Beaking of vertebral bodies, Kyphoscoliosis, Dislocated radial head, Hypoplastic ilia, Flared met... ORPHA:93359
Osteogenesis Imperfecta, Type Ii
Recurrent fractures, Tibial bowing, Thin ribs, Platyspondyly, Crumpled long bones, Wormian bones,... OMIM:166210
Kbg Syndrome
Delayed skeletal maturation, Rib fusion, Clinodactyly of the 5th finger, Ulnar deviation of the 2... OMIM:148050
Mucopolysaccharidosis Type 4
Spinal canal stenosis, Kyphosis, Joint dislocation, Reduced bone mineral density, Platyspondyly, ... ORPHA:582
Spondyloepimetaphyseal Dysplasia, Shohat Type
Metaphyseal irregularity, Delayed epiphyseal ossification, Lumbar hyperlordosis, Coxa vara, Narro... OMIM:602557
Fibrochondrogenesis 2
Metaphyseal cupping, Short ribs, Hypoplastic ilia, Metaphyseal widening, Platyspondyly, Hypoplast... OMIM:614524
Achondrogenesis, Type Ii
Short ribs, Barrel-shaped chest, Short tubular bones of the hand, Absent vertebral body mineraliz... OMIM:200610
Rhizomelic Dysplasia, Scoliosis, And Retinitis Pigmentosa
Short clavicles, Short ribs, Short neck, Scoliosis, Biconcave vertebral bodies, Short humerus, Sh... OMIM:610319
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Sprengel anomaly, Hemivertebrae, Scoliosis, Abnormal form of the vertebral bodies, Brachydactyly,... ORPHA:2180
Proximal 16P11.2 Microdeletion Syndrome
Rib fusion, Hand polydactyly, Craniosynostosis, Scoliosis, Abnormal vertebral morphology ORPHA:261197
Schneckenbecken Dysplasia
Narrow chest, Metaphyseal irregularity, Advanced ossification of carpal bones, Narrow vertebral i... OMIM:269250
Spondylometaphyseal Dysplasia, Algerian Type
Coxa vara, Kyphoscoliosis, Lumbar hyperlordosis, Hypoplasia of proximal radius, Metaphyseal dyspl... OMIM:184253
Laryngotracheoesophageal Cleft Type 4
Abnormal rib morphology, Abnormal form of the vertebral bodies ORPHA:93941
Autosomal Recessive Multiple Pterygium Syndrome
Vertebral segmentation defect, Rib fusion, Pectus excavatum, Abnormal sternum morphology, Multipl... ORPHA:2990
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies
Abnormal rib morphology, Hypoplastic distal segments of scapulae, Pectus excavatum, Joint hypermo... OMIM:602196
Dyggve-Melchior-Clausen Disease
Cone-shaped epiphyses of the phalanges of the hand, Prominent sternum, Femoral bowing, Barrel-sha... OMIM:223800
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Clinodactyly of the 5th finger, Arachnodactyly, Hemivertebrae, Abnormal form of the vertebral bod... ORPHA:2759
Osteogenesis Imperfecta, Type Xxi
Coxa vara, Bowing of the legs, Pectus excavatum, Recurrent fractures, Barrel-shaped chest, Platys... OMIM:619131
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Narrow chest, Postaxial polydactyly, Brachydactyly, Bell-shaped thorax, Horizontal ribs, Thoracic... OMIM:615633
Keratoconus Posticus Circumscriptus
Abnormal vertebral segmentation and fusion, Short neck, Limited elbow extension and supination OMIM:244600
Robinow Syndrome, Autosomal Recessive 1
Pectus excavatum, Hypoplastic sacrum, Hypoplasia of the radius, Hemivertebrae, Short neck, Duplic... OMIM:268310
Polydactyly, Postaxial, With Dental And Vertebral Anomalies
Narrow chest, Spinal canal stenosis, Kyphoscoliosis, Pectus excavatum, Hypoplastic vertebral bodi... OMIM:263540
Septopreoptic Holoprosencephaly
Abnormal rib morphology, Abnormal vertebral morphology ORPHA:280195
Spondylometaphyseal Dysplasia, Kozlowski Type
Abnormal humeral metaphysis morphology, Platyspondyly, Pectus carinatum, Premature osteoarthritis... ORPHA:93314
Mosaic Trisomy 20
Spinal canal stenosis, Kyphosis, Vertebral segmentation defect, Narrow chest, Limited pronation/s... ORPHA:1724
Grant Syndrome
Sprengel anomaly, Narrow chest, Joint dislocation, Abnormality of the glenoid fossa, Joint hyperf... ORPHA:2097
Mosaic Trisomy 14
Narrow chest, Camptodactyly of finger, Short neck, Abnormal rib morphology ORPHA:1703
Mucopolysaccharidosis, Type Iva
Pointed proximal second through fifth metacarpals, Prominent sternum, Anterior beaking of lumbar ... OMIM:253000
Developmental And Speech Delay Due To Sox5 Deficiency
Butterfly vertebrae, Lumbar hyperlordosis, Scoliosis, Thoracic kyphoscoliosis, Pectus carinatum, ... ORPHA:313892
Cerebral-Cerebellar-Coloboma Syndrome, X-Linked
Abnormal rib morphology OMIM:300864
Metaphyseal Dysostosis, Mental Retardation, And Conductive Deafness
Broad phalanx, Genu valgum, Irregular iliac crest, Short long bone, Metaphyseal irregularity, Sho... OMIM:250420
Intellectual Developmental Disorder, Autosomal Dominant 52
Cervical C2/C3 vertebral fusion, Lumbar hyperlordosis, Pectus carinatum, Lumbar scoliosis, Scapul... OMIM:617796
Verheij Syndrome
Hemivertebrae, Short neck, Scoliosis, Hip dislocation, Vertebral fusion OMIM:615583
Melnick-Needles Syndrome
Narrow chest, Short distal phalanx of finger, Short clavicles, Cone-shaped epiphyses of the phala... ORPHA:2484
Smith-Mccort Dysplasia 1
Kyphosis, Beaking of vertebral bodies, Metaphyseal irregularity, Prominent sternum, Multicentric ... OMIM:607326
Osteogenesis Imperfecta, Type Xvi
Narrow chest, Recurrent fractures, Joint hypermobility, Short long bone, Multiple rib fractures, ... OMIM:616229
3M Syndrome
Short neck, Congenital hip dislocation, Hypoplasia of the ulna, Hypoplastic pelvis, Rocker bottom... ORPHA:2616
Phaver Syndrome
Joint stiffness, Butterfly vertebrae, Broad hallux phalanx, Camptodactyly of finger, Abnormal for... ORPHA:2876
Osteogenesis Imperfecta, Type Xviii
Recurrent fractures, Joint hypermobility, Thin ribs, Femoral bowing, Biconcave vertebral bodies, ... OMIM:617952
Mucolipidosis Iii Gamma
Kyphosis, Joint stiffness, Flat capital femoral epiphysis, Abnormal rib cage morphology, Flared i... OMIM:252605
Achondrogenesis Type 1B
Narrow chest, Short neck, Abnormal rib morphology, Short foot, Short thorax, Abnormal enchondral ... ORPHA:93298
Fibrochondrogenesis
Narrow chest, Short ribs, Camptodactyly of finger, Short neck, Brachydactyly, Abnormal form of th... ORPHA:2021
Thin Ribs-Tubular Bones-Dysmorphism Syndrome
Abnormal rib morphology, Slender long bone, Abnormal pelvic girdle bone morphology ORPHA:1506
Cole-Carpenter Syndrome
Kyphosis, Recurrent fractures, Scoliosis, Abnormal form of the vertebral bodies, Wormian bones, J... ORPHA:2050
Ophthalmoplegia, External, With Rib And Vertebral Anomalies
Pectus excavatum, Short ribs, Scoliosis, Pseudoarthrosis, Missing ribs OMIM:618155
Osteogenesis Imperfecta, Type Iii
Kyphosis, Tibial bowing, Recurrent fractures, Thin ribs, Decreased calvarial ossification, Biconc... OMIM:259420
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome
Kyphosis, Aplasia/Hypoplasia of fingers, Clinodactyly of the 5th finger, Broad hallux phalanx, Sh... ORPHA:3082
Femoral-Facial Syndrome
Sprengel anomaly, Rib fusion, Short fifth metatarsal, Hypoplastic acetabulae, Dysplastic sacrum, ... OMIM:134780
Multiple Pterygium Syndrome, X-Linked
Multiple pterygia, Joint dislocation, Flexion contracture, Thin ribs, Abnormal cervical curvature... OMIM:312150
Microphthalmia, Syndromic 3
Rib fusion, Butterfly vertebrae, Hemivertebrae, Vertebral hypoplasia, Missing ribs, Supernumerary... OMIM:206900
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Tibial bowing, Radial bowing, Abnormally ossified vertebrae, Abnormal rib morphology, Abnormality... ORPHA:3035
Mucopolysaccharidosis, Type Ivb
Kyphosis, Pointed proximal second through fifth metacarpals, Prominent sternum, Constricted iliac... OMIM:253010
Mucopolysaccharidosis, Type X
Beaking of vertebral bodies, Platyspondyly, Scoliosis, Broad clavicles, Hyperlordosis, Irregular ... OMIM:619698
Ring Chromosome 21 Syndrome
Fused thoracic vertebrae, Small hand, Scoliosis, Syndactyly, Abnormal thorax morphology, Clinodac... ORPHA:1445
Multiple Pterygium Syndrome, Lethal Type
Multiple pterygia, Joint dislocation, Flexion contracture, Thin ribs, Abnormal cervical curvature... OMIM:253290
Cog1-Cdg
Posterior rib gap, Rib fusion, Kyphoscoliosis, Vertebral segmentation defect, Butterfly vertebrae... ORPHA:263508
Fibrochondrogenesis 1
Short neck, Platyspondyly, Dumbbell-shaped long bone, Posterior rib cupping, Short long bone, Tho... OMIM:228520
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
Corner fracture of metaphysis, Platyspondyly, Short neck, Biconcave vertebral bodies, Pectus cari... ORPHA:93315
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
Sprengel anomaly, Rib fusion, Bifid ribs, Pectus excavatum, Narrow chest, Beaking of vertebral bo... OMIM:213980
Aicardi Syndrome
Bifid ribs, Rib fusion, Butterfly vertebrae, Small hand, Scoliosis, Missing ribs, Block vertebrae... ORPHA:50
Achondrogenesis Type 1A
Narrow chest, Recurrent fractures, Multiple rib fractures, Short neck, Short thorax, Short foot, ... ORPHA:93299
Mayer-Rokitansky-Küster-Hauser Syndrome
Vertebral segmentation defect, Vertebral fusion, Abnormal sacrum morphology, Abnormal form of the... ORPHA:3109
Cooper-Jabs Syndrome
Abnormal hip bone morphology, Reduced bone mineral density, Camptodactyly of finger, Scoliosis, A... ORPHA:1488
Endosteal Hyperostosis, Autosomal Dominant
Metacarpal diaphyseal endosteal sclerosis, Metatarsal diaphyseal endosteal sclerosis, Clavicular ... OMIM:144750
Dysosteosclerosis
Short sternum, Osteopenia, Platyspondyly, Sclerotic scapulae, Broad ribs, Delayed closure of the ... OMIM:224300
Kbg Syndrome
Delayed skeletal maturation, Cutaneous syndactyly, Short neck, Scoliosis, Finger clinodactyly, Th... ORPHA:2332
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Kyphosis, Scoliosis, Hyperlordosis, Vertebral fusion, Achilles tendon contracture OMIM:606612
Sifrim-Hitz-Weiss Syndrome
Fused cervical vertebrae, Flat acetabular roof, Short clavicles, Wormian bones OMIM:617159
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Sprengel anomaly, Abnormality of the vertebral column, Abnormal rib morphology OMIM:601076
Frontometaphyseal Dysplasia
Limitation of movement at ankles, Craniosynostosis, Limitation of knee mobility, Progressive bowi... ORPHA:1826
Thanatophoric Dysplasia, Type I
Narrow chest, Wide-cupped costochondral junctions, Small abnormally formed scapulae, Metaphyseal ... OMIM:187600
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia
Aplasia/Hypoplasia of the thumb, Anterior vertebral fusion, Long clavicles, Absent radius, Short ... OMIM:171480
Fanconi Anemia, Complementation Group I
Fused cervical vertebrae, Short neck OMIM:609053
Otopalatodigital Syndrome Type 1
Short distal phalanx of finger, Increased bone mineral density, Abnormal vertebral segmentation a... ORPHA:90650
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Thin ribs, Platyspondyly, Metaphyseal cupping of metacarpals, Abnormality of the calcaneus, Hypop... ORPHA:163966
Baller-Gerold Syndrome
Hypoplasia of the radius, Hypoplasia of the ulna, Sagittal craniosynostosis, Rib fusion, Carpal s... OMIM:218600
Idiopathic Juvenile Osteoporosis
Recurrent fractures, Kyphosis, Osteoporosis, Vertebral compression fracture, Bone pain ORPHA:85193
Aicardi Syndrome
Bifid ribs, Rib fusion, Butterfly vertebrae, Hemivertebrae, Scoliosis, Missing ribs, Block verteb... OMIM:304050
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Increased bone mineral density, Osteopenia, Broad femoral neck, Wormian bones, Vertebral arch ano... ORPHA:85184
Infantile-Onset X-Linked Spinal Muscular Atrophy
Hip contracture, Kyphoscoliosis, Short ribs, Elbow flexion contracture, Knee flexion contracture,... ORPHA:1145
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome
Kyphosis, Hypoplastic vertebral bodies, Hemivertebrae, Scoliosis, Abnormal form of the vertebral ... ORPHA:2916
Congenital Disorder Of Glycosylation, Type Iig
Vertebral segmentation defect, Butterfly vertebrae, Small hand, Osteopenia, Short neck, Scoliosis... OMIM:611209
Spondyloepimetaphyseal Dysplasia, Shohat Type
Short neck, Platyspondyly, Abnormal epiphysis morphology, Generalized bone demineralization, Prem... ORPHA:93352
Autosomal Recessive Robinow Syndrome
Pectus excavatum, Short neck, Pectus carinatum, Sandal gap, Elbow dislocation, Sacral dimple, Ver... ORPHA:1507
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly
Femoral bowing, Platyspondyly, Broad hallux, Genu valgum, Ovoid vertebral bodies, Short long bone... OMIM:618019
Lethal Kniest-Like Dysplasia
Narrow chest, Hypoplastic vertebral bodies, Short ribs, Hypoplastic ilia, Flared metaphysis, Plat... ORPHA:2347
Osteogenesis Imperfecta, Type Viii
Kyphosis, Tibial bowing, Radial bowing, Recurrent fractures, Thin ribs, Femoral retroversion, Fem... OMIM:610915
Cortical Defects, Wormian Bones, And Dentinogenesis Imperfecta
Asymmetry of the thorax, Thin ribs, Epiphyseal streaking, Clinodactyly of the 4th toe, Wormian bo... OMIM:604922
Arnold-Chiari Malformation Type I
Cervical C2/C3 vertebral fusion, Scoliosis, Fused cervical vertebrae, Stiff neck, Anteriorly plac... ORPHA:268882
Achondrogenesis, Type Ia
Narrow chest, Bowing of the legs, Short clavicles, Short ribs, Hypoplastic sacrum, Hypoplasia of ... OMIM:200600
Cenani-Lenz Syndrome
Finger syndactyly, Hypoplasia of the radius, Scoliosis, Abnormal form of the vertebral bodies, Sy... ORPHA:3258
Mucopolysaccharidosis Type 6
Kyphosis, Epiphyseal dysplasia, Joint stiffness, Short neck, Genu valgum, Broad ribs, Ovoid verte... ORPHA:583
Spondyloepimetaphyseal Dysplasia, X-Linked
Broad phalanx, Cone-shaped epiphyses of the phalanges of the hand, Anterior wedging of T11, Platy... OMIM:300106
Holzgreve Syndrome
Joint stiffness, Abnormal morphology of ulna, Abnormally ossified vertebrae, Abnormal rib morphol... ORPHA:2167
Hyperparathyroidism, Transient Neonatal
Narrow chest, Thin ribs, Short ribs, Femoral bowing, Osteopenia OMIM:618188
Mucopolysaccharidosis, Type Iiia
Thickened ribs, Joint stiffness, Ovoid thoracolumbar vertebrae, Scoliosis, Dense calvaria OMIM:252900
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Short distal phalanx of finger, Vertebral segmentation defect, Short thumb, Abnormal rib morpholo... ORPHA:1120
Microcephalic Primordial Dwarfism, Toriello Type
Abnormal rib morphology, Abnormal epiphysis morphology, Brachydactyly, Delayed skeletal maturation ORPHA:2643
Short Stature And Facioauriculothoracic Malformations
Pectus excavatum, Short neck, Pectus carinatum, Cervical ribs, Abnormality of the odontoid process OMIM:609654
Spondylometaphyseal Dysplasia, Sedaghatian Type
Narrow chest, Accelerated skeletal maturation, Abnormal scapula morphology, Cone-shaped epiphysis... ORPHA:93317
Craniodiaphyseal Dysplasia, Autosomal Dominant
Thickened ribs, Cortical sclerosis, Diaphyseal sclerosis, Craniofacial osteosclerosis OMIM:122860
Microcephaly, Short Stature, And Limb Abnormalities
Dislocated radial head, Clinodactyly of the 5th finger, Hypoplasia of the radius, Brachydactyly, ... OMIM:617604
Mucolipidosis Iii Alpha/Beta
Irregular carpal bones, Soft tissue swelling of interphalangeal joints, Craniosynostosis, Short r... OMIM:252600
Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly
Narrow chest, Short ribs, Brachydactyly, Scoliosis, Polydactyly, Short long bone OMIM:613819
Three M Syndrome 2
Lumbar hyperlordosis, Thin ribs, Short neck, Short 5th finger, Pectus carinatum, Hyperlordosis, S... OMIM:612921
Wolf-Hirschhorn Syndrome
Rib fusion, Kyphosis, Split hand, Arachnodactyly, Preaxial hand polydactyly, Hypoplastic pubic ra... ORPHA:280
10Q22.3Q23.3 Microduplication Syndrome
Abnormal rib morphology, Abnormal clavicle morphology ORPHA:276422
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome
Rib fusion, Clinodactyly of the 5th finger, Tapered toe, Tapered finger, Sacral dimple ORPHA:544488
Thakker-Donnai Syndrome
Cervical C2/C3 vertebral fusion, Hemivertebrae, Short neck ORPHA:1780
Acro-Renal-Mandibular Syndrome
Sprengel anomaly, Kyphosis, Abnormal clavicle morphology, Butterfly vertebrae, Thin ribs, Split f... ORPHA:958
Cole-Carpenter Syndrome 2
Kyphosis, Pectus excavatum, Thin ribs, Coronal craniosynostosis, Osteopenia, Platyspondyly, Wormi... OMIM:616294
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome
Clinodactyly of the 5th finger, Abnormal hip bone morphology, Pectus carinatum, Hyperlordosis, Ab... ORPHA:3068
Pallister-Hall Syndrome
Rib fusion, Mesoaxial hand polydactyly, Mesoaxial foot polydactyly, Hemivertebrae, Syndactyly, Po... OMIM:146510
Cardiospondylocarpofacial Syndrome
Rib fusion, Carpal synostosis, Joint hypermobility, Cone-shaped epiphysis, Scoliosis, Brachydacty... OMIM:157800
Osteogenesis Imperfecta, Type X
Narrow chest, Thin ribs, Generalized joint laxity, Osteopenia, Platyspondyly, Scoliosis, Genu val... OMIM:613848
Mucopolysaccharidosis, Type Iiib
Thickened ribs, Joint stiffness, Ovoid thoracolumbar vertebrae, Dense calvaria OMIM:252920
Hypophosphatasia
Narrow chest, Recurrent fractures, Craniosynostosis, Abnormal rib morphology, Bowing of the long ... ORPHA:436
Gorlin Syndrome
Hemivertebrae, Vertebral wedging, Scoliosis, Vertebral fusion ORPHA:377
Arthrogryposis, Distal, Type 3
Overlapping toe, Kyphoscoliosis, Lumbar hyperlordosis, Pectus excavatum, Abnormal rib cage morpho... OMIM:114300
Alkaptonuria
Kyphosis, Intervertebral disc degeneration, Limitation of knee mobility, Arthritis, Low back pain... OMIM:203500
Thoracic Outlet Syndrome
Abnormal rib morphology ORPHA:97330
Cantú Syndrome
Narrow chest, Short distal phalanx of finger, Accelerated skeletal maturation, Broad hallux phala... ORPHA:1517
Duane-Radial Ray Syndrome
Absent thumb, Hypoplasia of the radius, Preaxial polydactyly, Short humerus, Shoulder dislocation... OMIM:607323
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Broad phalanx, Pectus excavatum, Short neck, Broad hallux, Cervical hemivertebrae, Hypermobility ... ORPHA:508498
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Metaphyseal irregularity, Coxa vara, Bowing of the legs, Metaphyseal spurs, Short metacarpal, Nar... ORPHA:85167
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Kyphosis, Scoliosis, Hyperlordosis, Vertebral fusion, Achilles tendon contracture OMIM:607155
Kniest-Like Dysplasia, Lethal
Narrow chest, Metaphyseal irregularity, Hypoplastic vertebral bodies, Short ribs, Hypoplastic ili... OMIM:245190
X-Linked Hypophosphatemia
Craniosynostosis, Upper limb metaphyseal widening, Genu valgum, Abnormal epiphysis morphology, Bo... ORPHA:89936
Kyphomelic Dysplasia
Tibial bowing, Radial bowing, Limitation of joint mobility, Short metacarpal, Short femur, Undula... OMIM:211350
Thrombocytopenia-Absent Radius Syndrome
Absent thumb, Hypoplasia of the radius, Femoral bowing, Hypoplasia of the ulna, Patellar dislocat... OMIM:274000
Acromesomelic Dysplasia 4
Broad phalanx, Prominent sternum, Accelerated skeletal maturation, Platyspondyly, Broad finger, G... OMIM:619636
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Metaphyseal irregularity, Tibial bowing, Delayed epiphyseal ossification, Bowing of the legs, Wid... OMIM:600081
Pyknoachondrogenesis
Enlarged thorax, Sclerosis of skull base, Abnormal iliac wing morphology, Unossified sacrum, Shor... ORPHA:3003
Cat-Eye Syndrome
Abnormal rib morphology, Hip dysplasia ORPHA:195
Mucopolysaccharidosis, Type Iiic
Thickened ribs, Beaking of vertebral bodies, Kyphoscoliosis, Joint stiffness, Ovoid thoracolumbar... OMIM:252930
Ossification Anomalies-Psychomotor Developmental Delay Syndrome
Narrow chest, Short distal phalanx of finger, Abnormal bone ossification, Thin ribs, Triangular s... ORPHA:73230
Familial Osteodysplasia, Anderson Type
Kyphosis, Recurrent fractures, Clinodactyly of the 5th finger, Scoliosis, Abnormal form of the ve... ORPHA:2769
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Abnormal rib morphology, Recurrent fractures, Decreased calvarial ossification, Joint hyperflexib... ORPHA:2772
Cleidocranial Dysplasia
Down-sloping shoulders, Tapered finger, Genu valgum, Abnormal epiphysis morphology, Clinodactyly ... ORPHA:1452
Brachytelephalangic Chondrodysplasia Punctata
C1-C2 subluxation, Epiphyseal stippling of toe phalanges, Epiphyseal stippling, Cervical vertebra... ORPHA:79345
Cervical Ribs, Sprengel Anomaly, Anal Atresia, And Urethral Obstruction
Sprengel anomaly, Thoracolumbar scoliosis, Cervical ribs, Preaxial hand polydactyly OMIM:601389
Multiple Synostoses Syndrome 1
Pectus excavatum, Short sternum, Clinodactyly of the 4th toe, Symphalangism affecting the phalang... OMIM:186500
Congenital Pseudoarthrosis Of The Clavicle
Congenital pseudoarthrosis of the clavicle, Osteoarthritis, Cervical ribs ORPHA:66630
Craniometadiaphyseal Dysplasia
Sclerosis of skull base, Osteopenia, Flared metaphysis, Scoliosis, Wormian bones, Genu varum, Gen... OMIM:269300
Campomelia, Cumming Type
Abnormally ossified vertebrae, Brachydactyly, Abnormal thorax morphology, Abnormal rib morphology... ORPHA:1318
Spondylometaphyseal Dysplasia, Sedaghatian Type
Cone-shaped epiphyses of the phalanges of the hand, Short neck, 11 pairs of ribs, Platyspondyly, ... OMIM:250220
Microcephaly-Micromelia Syndrome
Narrow chest, Forearm undergrowth, Craniosynostosis, Short tibia, Short neck, Abnormal rib morpho... OMIM:251230
Lateral Meningocele Syndrome
Kyphosis, Sclerosis of skull base, Pectus excavatum, Abnormal rib cage morphology, Short neck, Bi... OMIM:130720
Autosomal Recessive Kenny-Caffey Syndrome
Cortical thickening of long bone diaphyses, Stenosis of the medullary cavity of the long bones, T... ORPHA:93324
Axial Mesodermal Dysplasia Spectrum
Vertebral segmentation defect, Short neck, Scoliosis, Abnormal form of the vertebral bodies, Abno... ORPHA:1834
Prune Belly Syndrome
Vertebral segmentation defect, Pectus excavatum, Congenital hip dislocation, Scoliosis, Abnormal ... ORPHA:2970
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Decreased fibular diameter, Flexion contracture, Multiple rib fractures, Short ribs, Short femur,... OMIM:616897
Poland Syndrome
Hemivertebrae, Cone-shaped epiphysis, Short neck, Abnormality of the humerus, Pectus carinatum, S... ORPHA:2911
Spondylocarpotarsal Synostosis Syndrome
Scapular winging, Short neck, Pectus carinatum, Block vertebrae, Delayed skeletal maturation, Ver... OMIM:272460
Aarskog-Scott Syndrome
Clinodactyly of the 5th finger, Pectus excavatum, Genu recurvatum, Abnormal vertebral segmentatio... ORPHA:915
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe
Supraumbilical raphe, Bifid sternum OMIM:140850
Robinow Syndrome
Short distal phalanx of finger, Rib fusion, Kyphoscoliosis, Fused thoracic vertebrae, Hemivertebr... ORPHA:97360
Apert Syndrome
Delayed epiphyseal ossification, Humeroradial synostosis, Finger syndactyly, Craniosynostosis, Br... OMIM:101200
Caudal Regression Syndrome
Joint stiffness, Hypoplastic vertebral bodies, Abnormal iliac wing morphology, Abnormal vertebral... ORPHA:3027
Vertebral Hypersegmentation And Orofacial Anomalies
Pectus excavatum, Six lumbar vertebrae, Joint hypermobility, Supernumerary ribs, Scapular winging OMIM:619122
Sillence Syndrome
Platyspondyly, Abnormal vertebral morphology, Large tarsal bones, Back pain, Chess-pawn distal ph... ORPHA:3168
Holt-Oram Syndrome
Aplasia of the ulna, Short clavicles, Thoracic scoliosis, Pectus excavatum, Absent thumb, Hypopla... OMIM:142900
Greenberg Dysplasia
Anterior rib punctate calcifications, Short metacarpal, Horizontal sacrum, Barrel-shaped chest, P... OMIM:215140
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type
Broad phalanx, Pectus excavatum, Platyspondyly, C1-C2 subluxation, Hip subluxation, Posterior rib... OMIM:271665
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
Delayed proximal femoral epiphyseal ossification, Short neck, 11 pairs of ribs, Platyspondyly, Ge... OMIM:271640
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Acetabular spurs, Absent tibia, Metaphyseal spurs, Short long bone, Short ribs, Postaxial polydac... OMIM:613091
Craniosynostosis, Herrmann-Opitz Type
Craniosynostosis, Brachydactyly, Abnormal rib morphology, Split hand, Finger syndactyly ORPHA:2145
Gm1-Gangliosidosis, Type I
Thickened ribs, Kyphosis, Beaking of vertebral bodies, Hypoplastic vertebral bodies, Joint stiffn... OMIM:230500
Cartilage-Hair Hypoplasia
Accelerated skeletal maturation, Abnormally ossified vertebrae, Short neck, Pectus carinatum, Abn... ORPHA:175
Wolf-Hirschhorn Syndrome
Delayed skeletal maturation, Rib fusion, Kyphosis, Abnormal sternal ossification, Preaxial foot p... OMIM:194190
Kenny-Caffey Syndrome, Type 1
Thin ribs, Long clavicles, Small hand, Thin clavicles, Slender long bone, Short foot, Delayed clo... OMIM:244460
Craniofaciofrontodigital Syndrome
Pectus excavatum, Hypoplastic vertebral bodies, Short neck, Hypoplastic pelvis, Broad ribs, Cubit... OMIM:114620
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development
Brachydactyly, Arthrogryposis multiplex congenita, Thin ribs, Craniosynostosis OMIM:618265
Basal Cell Nevus Syndrome
Sprengel anomaly, Bifid ribs, Kyphoscoliosis, Abnormal sternum morphology, Short distal phalanx o... OMIM:109400
Opsismodysplasia
Narrow chest, Short palm, Hypoplastic vertebral bodies, Metaphyseal cupping, Short metacarpal, Sh... OMIM:258480
Frontometaphyseal Dysplasia 2
Dislocated radial head, Hip contracture, Pectus excavatum, Congenital hip dislocation, Scoliosis,... OMIM:617137
Zttk Syndrome
Kyphosis, Rib fusion, Flexion contracture, Craniosynostosis, Small hand, Hemivertebrae, Scoliosis... OMIM:617140
Radio-Renal Syndrome
Hypoplasia of the radius, Short neck, Brachydactyly, Abnormal form of the vertebral bodies, Abnor... ORPHA:3015
Osteogenesis Imperfecta, Type Vii
Narrow chest, Coxa vara, Bowing of the legs, Pectus excavatum, Recurrent fractures, Multiple rib ... OMIM:610682
Mosaic Trisomy 8
Narrow chest, Vertebral segmentation defect, Clinodactyly of the 5th finger, Camptodactyly of fin... ORPHA:96061
Orofaciodigital Syndrome Iii
Kyphosis, Pectus excavatum, Short sternum, Postaxial hand polydactyly, Postaxial foot polydactyly OMIM:258850
Cartilage-Hair Hypoplasia
Narrow chest, Coxa vara, Metaphyseal dysplasia, Lumbar hyperlordosis, Prominent sternum, Asymmetr... OMIM:250250
Sternum, Premature Obliteration Of Sutures Of
Premature sternal synostosis, Short sternum OMIM:184800
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Narrow chest, Short ribs, Hypoplasia of the radius, Hypoplastic ilia, Postaxial polydactyly, Brac... OMIM:617895
Shwachman-Diamond Syndrome 1
Narrow chest, Coxa vara, Metaphyseal chondrodysplasia, Narrow greater sciatic notch, Metaphyseal ... OMIM:260400
Apert Syndrome
Vertebral segmentation defect, Cervical C5/C6 vertebrae fusion ORPHA:87
Lethal Congenital Contracture Syndrome 10
Narrow chest, Thoracic scoliosis, Adducted thumb, Overlapping fingers, Short neck, Broad ribs, St... OMIM:617022
Occipital Horn Syndrome
Narrow chest, Kyphosis, Short clavicles, Pectus excavatum, Coxa valga, Platyspondyly, Short humer... OMIM:304150
Renpenning Syndrome
Sprengel anomaly, Joint stiffness, Clinodactyly of the 5th finger, Pectus excavatum, Abnormal rib... ORPHA:3242
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Unilateral chest hypoplasia, Abnormality of the vertebral column, Scoliosis, Abnormal rib morphol... OMIM:308205
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development
Absent thumb, Short femur, Short tibia, Hypoplasia of the ulna, Aplasia/Hypoplasia of the radius,... OMIM:612447
Alagille Syndrome
Vertebral segmentation defect, Short distal phalanx of finger, Clinodactyly of the 5th finger, Ab... ORPHA:52
Antley-Bixler Syndrome
Narrow chest, Joint stiffness, Recurrent fractures, Elbow ankylosis, Craniosynostosis, Arachnodac... ORPHA:83
Chops Syndrome
Cervical C2/C3 vertebral fusion, Tracheomalacia OMIM:616368
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Metaphyseal irregularity, Tibial bowing, Delayed epiphyseal ossification, Bowing of the legs, Wid... OMIM:241530
Short Rib-Polydactyly Syndrome
Cone-shaped epiphysis, Bowing of the long bones, Short long bone, Thoracic hypoplasia, Acetabular... ORPHA:1505
Autosomal Dominant Popliteal Pterygium Syndrome
Joint stiffness, Popliteal pterygium, Scoliosis, Abnormal rib morphology, Split hand, Finger synd... ORPHA:1300
Lymphangiectasia, Intestinal
Prominent floating ribs OMIM:152800
Otopalatodigital Syndrome Type 2
Narrow chest, Carpal synostosis, Increased bone mineral density, Flared iliac wing, Abnormal vert... ORPHA:90652
Xylt1-Cdg
Short clavicles, Joint dislocation, Accelerated skeletal maturation, Flared metaphysis, Short fem... ORPHA:370930
Acrorenal-Mandibular Syndrome
Narrow chest, Kyphoscoliosis, Butterfly vertebrae, Thin ribs, Split foot, Hypoplasia of the radiu... OMIM:200980
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Metaphyseal irregularity, Tibial bowing, Subperiosteal bone resorption, Delayed epiphyseal ossifi... OMIM:264700
Mucopolysaccharidosis, Type Vi
Prominent sternum, Pectus carinatum, Genu valgum, Broad ribs, Ovoid vertebral bodies, Anterior we... OMIM:253200
Trisomy 13
Narrow chest, Kyphosis, Ectrodactyly, Scoliosis, Postaxial hand polydactyly, Abnormal rib morphol... ORPHA:3378
Schneckenbecken Dysplasia
Narrow chest, Hypoplastic vertebral bodies, Accelerated skeletal maturation, Short ribs, Increase... ORPHA:3144
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Thin ribs, Long clavicles, Coronal craniosynostosis, Contracture of the distal interphalangeal jo... ORPHA:83617
1P36 Deletion Syndrome
Bifid ribs, Rib fusion, Spinal canal stenosis, Kyphosis, Clinodactyly of the 5th finger, Joint st... ORPHA:1606
Meier-Gorlin Syndrome 1
Absent glenoid fossa, Hemivertebrae, Pectus carinatum, Genu valgum, Delayed skeletal maturation, ... OMIM:224690
Sclerosteosis 1
Cortically dense long tubular bones, 2-3 finger syndactyly, Syndactyly, Broad clavicles, Deviatio... OMIM:269500
Camptodactyly Syndrome, Guadalajara Type 3
Small hand, Osteopenia, Short neck, Broad femoral neck, Spina bifida occulta, Abnormal rib morpho... ORPHA:488434
Tetraamelia-Multiple Malformations Syndrome
Abnormal rib morphology, Missing ribs, Aplasia/Hypoplasia involving the pelvis, Abnormally ossifi... ORPHA:3301
Van Den Ende-Gupta Syndrome
Pectus excavatum, Craniosynostosis, Femoral bowing, Tapered finger, Glenoid fossa hypoplasia, Lon... OMIM:600920
Hurler Syndrome
Spinal canal stenosis, Abnormal clavicle morphology, Camptodactyly of finger, Short neck, Scolios... ORPHA:93473
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
Pectus excavatum, Abnormal bone ossification, Thin ribs, Arachnodactyly, Osteopenia, Thin metatar... ORPHA:2463
Koolen-De Vries Syndrome
Vertebral segmentation defect, Kyphosis, Pectus excavatum, Scoliosis, Hip dislocation, Vertebral ... ORPHA:96169
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Narrow chest, Lateral clavicle hook, Short ribs, Preaxial hand polydactyly, Platyspondyly, Brachy... OMIM:263520
Eiken Syndrome
Delayed epiphyseal ossification, Long hallux, Delayed tarsal ossification, Delayed ossification o... OMIM:600002
Kagami-Ogata Syndrome
Kyphoscoliosis, Thin ribs, Long clavicles, Flexion contracture, Long fingers, Bell-shaped thorax,... OMIM:608149
Ellis-Van Creveld Syndrome
Narrow chest, Acetabular spurs, Short ribs, Cone-shaped epiphyses of phalanges 2 to 5, Pectus car... OMIM:225500
Scarf Syndrome
Short sternum, Craniosynostosis, Short neck, Abnormal form of the vertebral bodies, Pectus carina... ORPHA:3134
Vacterl/Vater Association
Vertebral segmentation defect, Finger syndactyly, Abnormal rib morphology, Aplasia/Hypoplasia of ... ORPHA:887
Lethal Congenital Contracture Syndrome 5
Congenital contracture, Flexion contracture, Thin ribs OMIM:615368
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Abnormal sternum morphology, Short ribs, Abnormal rib morphology, Postaxial hand polydactyly, Bro... ORPHA:2519
Fibrous Dysplasia Of Bone
Abnormality of femur morphology, Coxa vara, Abnormal clavicle morphology, Abnormal morphology of ... ORPHA:249
Multiple Pterygium-Malignant Hyperthermia Syndrome
Kyphosis, Pectus excavatum, Arachnodactyly, Prominent metopic ridge, Camptodactyly of finger, Sco... ORPHA:2215
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Prominent sternum, Elbow ankylosis, Hypoplasia of the radius, Hemivertebrae, Barrel-shaped chest,... OMIM:276820
Stuve-Wiedemann Syndrome 1
Enlarged joints, Femoral bowing, Short neck, Ulnar deviation of finger, Ovoid vertebral bodies, B... OMIM:601559
X-Linked Myotubular Myopathy-Abnormal Genitalia Syndrome
Thin ribs, Joint hypermobility ORPHA:456328
Cleidocranial Dysplasia 1
Cone-shaped epiphyses of the phalanges of the hand, Spondylolisthesis, Increased bone mineral den... OMIM:119600
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Rib fusion, Kyphoscoliosis, Lumbar hyperlordosis, Absent thumb, Arachnodactyly, Hemivertebrae, Sl... ORPHA:500150
Shprintzen-Goldberg Craniosynostosis Syndrome
Dislocated radial head, Pectus excavatum, Genu recurvatum, Joint contracture of the hand, Thin ri... OMIM:182212
Faciodigitogenital Syndrome, Autosomal Recessive
Pectus excavatum, Clinodactyly of the 5th finger, Abnormal rib cage morphology, Down-sloping shou... OMIM:227330
Schwartz-Jampel Syndrome
Pectus excavatum, Abnormally ossified vertebrae, Short neck, Platyspondyly, Pectus carinatum, Gen... ORPHA:800
Pallister-Hall Syndrome
Polydactyly affecting the 3rd finger, Rib fusion, Overlapping toe, Radial bowing, Bilateral posta... ORPHA:672
Scarf Syndrome
Short sternum, Coronal craniosynostosis, Barrel-shaped chest, Short neck, Abnormal form of the ve... OMIM:312830
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Pectus excavatum, Craniosynostosis, Hypoplasia of the radius, Short neck, Hypoplasia of the ulna,... OMIM:609945
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Flexion contracture, Thin ribs OMIM:614833
Aspergillosis
Abnormal rib morphology, Osteomyelitis, Abnormality of the vertebral column, Abnormal long bone m... ORPHA:1163
Chromosome 1P36 Deletion Syndrome, Distal
Bifid ribs, Rib fusion, Clinodactyly of the 5th finger, Camptodactyly of finger, 11 pairs of ribs... OMIM:607872
Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome
Aplasia/Hypoplasia of the phalanges of the toes, Asymmetry of the thorax, Split foot, Hemivertebr... ORPHA:1112
Mucopolysaccharidosis, Type Iiid
Thickened ribs, Epiphyseal dysplasia, Joint stiffness, Thoracic scoliosis, Hypoplastic vertebral ... OMIM:252940
Severe Congenital Nemaline Myopathy
Flexion contracture, Adducted thumb, Thin ribs, Abnormal thorax morphology, Arthrogryposis multip... ORPHA:171430
Oculocerebrocutaneous Syndrome
Short distal phalanx of finger, Congenital hip dislocation, Abnormal rib morphology, Missing ribs... ORPHA:1647
Gm1 Gangliosidosis Type 1
Broad metacarpals, Flattened femoral head, Hypoplastic vertebral bodies, Flared iliac wing, Beaki... ORPHA:79255
Orofaciodigital Syndrome Type 3
Pectus excavatum, Short sternum, Postaxial hand polydactyly, Thoracic kyphosis, Postaxial foot po... ORPHA:2752
Weill-Marchesani Syndrome 1
Spinal canal stenosis, Broad metacarpals, Joint stiffness, Lumbar hyperlordosis, Broad phalanges ... OMIM:277600
Osteogenesis Imperfecta
Abnormality of femur morphology, Pectus excavatum, Femoral bowing, Osteopenia, Biconcave vertebra... ORPHA:666
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Narrow chest, Metaphyseal irregularity, Cone-shaped epiphyses of the phalanges of the hand, Short... OMIM:208500
Hypocalcemic Vitamin D-Dependent Rickets
Delayed epiphyseal ossification, Tibial bowing, Subperiosteal bone resorption, Irregular, rachiti... ORPHA:289157
Campomelic Dysplasia
Poorly ossified cervical vertebrae, Femoral bowing, Short 1st metacarpal, 11 pairs of ribs, Pectu... OMIM:114290
Monosomy 9Q22.3
Kyphosis, Pectus excavatum, Accelerated skeletal maturation, Abnormality of the vertebral column,... ORPHA:77301
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Elbow ankylosis, Craniosynostosis, Femoral bowing, Radioulnar synostosis, Bowing of the long bone... ORPHA:95699
Myhre Syndrome
Joint stiffness, Large iliac wing, Platyspondyly, Abnormality of the pubic bone, Brachydactyly, A... ORPHA:2588
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Cervical C2/C3 vertebral fusion, Tracheomalacia, Wormian bones, Hip subluxation, Abnormal vertebr... ORPHA:444077
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion
Overlapping toe, Flexion contracture of finger, Pectus excavatum, Prominent sternum, Flexion cont... ORPHA:254528
Nestor-Guillermo Progeria Syndrome
Joint stiffness, Thin ribs, Flexion contracture, Scoliosis, Wide cranial sutures, Limited elbow m... OMIM:614008
Gracile Bone Dysplasia
Thin ribs, Flared metaphysis, Brachydactyly, Slender long bone, Decreased skull ossification OMIM:602361
Koolen-De Vries Syndrome
Kyphosis, Pectus excavatum, Spondylolisthesis, Prominent metopic ridge, Scoliosis, Joint hypermob... OMIM:610443
Renal Dysplasia-Limb Defects Syndrome
Aplasia of the ulna, Short sternum, Short metacarpal, Thin ribs, Short ribs, Hypoplasia of the ra... OMIM:266910
Kagami-Ogata Syndrome
Kyphoscoliosis, Limitation of joint mobility, Coat hanger sign of ribs, Short neck, Bell-shaped t... ORPHA:254519
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Narrow chest, Narrow greater sciatic notch, Short ribs, Postaxial polydactyly, Preaxial polydacty... OMIM:617925
Trisomy 1Q
Arachnodactyly, Camptodactyly of finger, Abnormal rib morphology, Short thorax, Preaxial hand pol... ORPHA:261344
Craniotubular Dysplasia, Ikegawa Type
Metaphyseal dysplasia, Sclerosis of skull base, Increased intervertebral space, Platyspondyly, Br... OMIM:619727
Coffin-Lowry Syndrome
Drumstick terminal phalanges, Kyphosis, Pectus excavatum, Short metacarpal, Hyperextensibility of... OMIM:303600
Acro-Renal-Ocular Syndrome
Vertebral segmentation defect, Short distal phalanx of the thumb, Finger syndactyly, Radial club ... ORPHA:959
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Delayed skeletal maturation, Horizontal ribs, Bell-shaped thorax OMIM:614857
Myhre Syndrome
Overlapping toe, Short toe, 2-3 toe syndactyly, Joint stiffness, Limitation of joint mobility, Co... OMIM:139210
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
Coat hanger sign of ribs, Thoracic hypoplasia ORPHA:254534
Cerebrocostomandibular Syndrome
Calcaneal epiphyseal stippling, Clinodactyly of the 5th finger, Rib gap, Anomalous rib insertion ... OMIM:117650
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Butterfly vertebrae, Posterior rib fusion OMIM:265380
Elsahy-Waters Syndrome
Cervical C2/C3 vertebral fusion, Pectus excavatum OMIM:211380
Short-Rib Thoracic Dysplasia 12
Narrow chest, Bowing of the legs, Short toe, Short ribs, Short neck, Bowing of the arm, Brachydac... OMIM:269860
Ulbright-Hodes Syndrome
Aplasia/Hypoplasia of the ulna, Short sternum, Short metacarpal, Thin ribs, Short ribs, Hypoplasi... ORPHA:3404
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Flexion contracture of thumb, Pectus excavatum, Prominent sternum, Absent glenoid fossa, Hemivert... ORPHA:96334
Myotubular Myopathy With Abnormal Genital Development
Thin ribs, Joint hypermobility OMIM:300219
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1
Kyphoscoliosis, Joint dislocation, Thin ribs, Arachnodactyly, Osteopenia, Congenital hip dislocat... OMIM:225400
Generalized Arterial Calcification Of Infancy
Hypophosphatemic rickets, Osteomalacia, Abnormal calcification of the carpal bones, Fused cervica... ORPHA:51608
Weill-Marchesani Syndrome 2
Spinal canal stenosis, Broad metacarpals, Delayed skeletal maturation, Lumbar hyperlordosis, Join... OMIM:608328
Lenz-Majewski Hyperostotic Dwarfism
Proximal symphalangism of hands, Progressive sclerosis of skull base, Hyperextensibility of the f... OMIM:151050
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Narrow chest, Short ribs, Postaxial polydactyly, Preaxial polydactyly, Bell-shaped thorax, Hypopl... OMIM:616300
Schinzel-Giedion Midface Retraction Syndrome
Short distal phalanx of finger, Tibial bowing, Widely patent fontanelles and sutures, Short stern... OMIM:269150
Osteopathia Striata With Cranial Sclerosis
Sclerosis of skull base, Pectus excavatum, Clinodactyly of the 5th finger, Joint contracture of t... OMIM:300373
Craniorachischisis
Bifid sternum ORPHA:63260
Simpson-Golabi-Behmel Syndrome
Vertebral segmentation defect, Short toe, Pectus excavatum, Clinodactyly of the 5th finger, Short... ORPHA:373
Waardenburg Syndrome, Type 1
Sprengel anomaly, Supernumerary ribs, Supernumerary vertebrae OMIM:193500
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Narrow chest, Short clavicles, Short ribs, Postaxial polydactyly, Cone-shaped epiphysis, Brachyda... OMIM:617088
Alpha-Mannosidosis, Infantile Form
Thickened ribs, Joint stiffness, Avascular necrosis, Pectus excavatum, Cortical thickening of lon... ORPHA:309282
Vater/Vacterl Association
Abnormal sternum morphology, Hypoplasia of the radius, Preaxial polydactyly, Scoliosis, Syndactyl... OMIM:192350
Cerebrocostomandibular Syndrome
Posterior rib gap, Kyphosis, Clinodactyly of the 5th finger, Tracheomalacia, Bell-shaped thorax ORPHA:1393
Autosomal Dominant Centronuclear Myopathy
Thin ribs ORPHA:169189
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies
Broad metacarpals, Tapered finger, Hyperlordosis, Limited elbow extension, Broad long bone diaphy... OMIM:301066
Hallermann-Streiff Syndrome
Pectus excavatum, Abnormal rib cage morphology, Thin ribs, Tracheomalacia, Metaphyseal widening, ... OMIM:234100
Monosomy 9P
Abnormality of the vertebral column, Short neck, Scoliosis, Abnormal rib morphology, Postaxial ha... ORPHA:261112
Duane Retraction Syndrome
Abnormal vertebral segmentation and fusion, Short neck, Abnormal form of the vertebral bodies, Sp... ORPHA:233
Mucopolysaccharidosis Type 3
Joint stiffness, Abnormal clavicle morphology, Flexion contracture, Reduced bone mineral density,... ORPHA:581
Dextrocardia
Abnormal rib morphology, Congenital hip dislocation ORPHA:1666
Ear-Patella-Short Stature Syndrome
Clinodactyly of the 5th finger, Craniosynostosis, Camptodactyly of finger, Slender long bone, Apl... ORPHA:2554
Fetal Akinesia Deformation Sequence 1
Elbow ankylosis, Thin ribs, Camptodactyly of finger, Short neck, Slender long bone, Arthrogryposi... OMIM:208150
Pseudo-Torch Syndrome 2
Thin ribs OMIM:617397
Autosomal Recessive Malignant Osteopetrosis
Narrow chest, Recurrent fractures, Craniosynostosis, Osteopetrosis, Reduced bone mineral density,... ORPHA:667
Smith-Lemli-Opitz Syndrome
Kyphosis, 2-3 toe syndactyly, Split hand, Short neck, Scoliosis, Abnormal form of the vertebral b... ORPHA:818
Hereditary Acrokeratotic Poikiloderma
Abnormal hip bone morphology, Camptodactyly of finger, Abnormal rib morphology, Abnormal metacarp... ORPHA:2907
Trisomy 18
Abnormal hip bone morphology, Camptodactyly of finger, Deviation of finger, Abnormal rib morpholo... ORPHA:3380
Cranioectodermal Dysplasia 2
Narrow chest, Pectus excavatum, Short ribs, Craniosynostosis, Short neck, Brachydactyly, Polydact... OMIM:613610
Alagille Syndrome 1
Short distal phalanx of finger, Hemivertebrae, Abnormal rib morphology, Hypoplasia of the ulna, B... OMIM:118450
Mandibuloacral Dysplasia Progeroid Syndrome
Decreased fibular diameter, Joint stiffness, Pectus excavatum, Thin ribs, Flexion contracture, De... OMIM:619127
Schinzel-Giedion Syndrome
Short distal phalanx of finger, Overlapping toe, Kyphoscoliosis, Abnormal clavicle morphology, Ti... ORPHA:798
Osteopetrosis, Autosomal Recessive 7
Osteopetrosis, Femur fracture, Multiple rib fractures OMIM:612301
Mucopolysaccharidosis Type 2, Severe Form
Thickened ribs, Spinal canal stenosis, Flexion contracture, Camptodactyly of finger, Arthritis, A... ORPHA:217085
Mucopolysaccharidosis Type 2, Attenuated Form
Thickened ribs, Spinal canal stenosis, Flexion contracture, Camptodactyly of finger, Arthritis, A... ORPHA:217093
Townes-Brocks Syndrome
Clinodactyly of the 5th finger, Toe clinodactyly, Partial duplication of thumb phalanx, Broad hal... ORPHA:857
Oculocerebrorenal Syndrome Of Lowe
Kyphosis, Joint swelling, Joint stiffness, Recurrent fractures, Platyspondyly, Scoliosis, Osteoma... ORPHA:534
Fryns Syndrome
Short distal phalanx of finger, Joint contracture of the hand, Thin ribs, Prominent fingertip pad... OMIM:229850
Coccidioidomycosis
Osteomyelitis, Abnormality of the vertebral column, Arthritis, Abnormal long bone morphology, Abn... ORPHA:228123
Kindler Epidermolysis Bullosa
Flexion contracture, Camptodactyly of finger, Abnormal rib morphology, Short 4th metacarpal, Shor... ORPHA:2908
Restrictive Dermopathy
Multiple joint contractures, Widely patent fontanelles and sutures, Thin ribs, Aplasia/Hypoplasia... ORPHA:1662
Charge Syndrome
Clinodactyly of the 5th finger, Hemivertebrae, Scoliosis, Brachydactyly, Abnormality of tibia mor... ORPHA:138
Pagod Syndrome
Abnormal rib morphology, Abnormal clavicle morphology ORPHA:991
Wiedemann-Rautenstrauch Syndrome
Narrow chest, Widely patent fontanelles and sutures, Thin ribs, Short femur, Flexion contracture,... OMIM:264090
Heterotaxy, Visceral, 1, X-Linked
Block vertebrae, Congenital hip dislocation, Absence of the sacrum OMIM:306955
Charge Syndrome
Absent tibia, Hand polydactyly, Hemivertebrae, Down-sloping shoulders, Scoliosis, Short thumb, Ab... OMIM:214800
Osteopetrosis With Renal Tubular Acidosis
Osteopetrosis, Recurrent fractures, Pectus excavatum, Prominent floating ribs ORPHA:2785
Craniofacial Microsomia
Hemivertebrae, Partial duplication of thumb phalanx, Scoliosis, Cervical ribs, Genu valgum, Verte... 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.

This service may be affected by the Covid-19 pandemic. See how

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

The IMPC Newsletter

Get highlights of the most important data releases, news and events, delivered straight to your email inbox

Subscribe to newsletter