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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:
Mph2,  D4Ertd810e,  Edr2,  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
Cervical C5/C6 vertebrae fusion, Cervical C3/C4 vertebral fusion, Thoracic scoliosis OMIM:613702
Spondylocostal Dysostosis 3, Autosomal Recessive
Scoliosis, Supernumerary vertebral ossification centers, Kyphosis, Rib fusion, Slender finger, Ve... OMIM:609813
Spondylocostal Dysostosis 2, Autosomal Recessive
Rib fusion, Hemivertebrae, Short neck, Vertebral segmentation defect, Vertebral clefting OMIM:608681
Spondylocostal Dysostosis 1, Autosomal Recessive
Back pain, Rib fusion, Hemivertebrae, Vertebral fusion, Abnormality of the odontoid process, Kyph... OMIM:277300
Sacral Agenesis With Vertebral Anomalies
Absence of the sacrum, Abnormal vertebral morphology OMIM:615709
Chondrocalcinosis Due To Apatite Crystal Deposition
Costal cartilage calcification, Chondrocalcinosis, Osteoarthritis of the small joints of the hand... OMIM:118610
Familial Scheuermann Disease
Kyphosis, Abnormal form of the vertebral bodies ORPHA:3135
Spondylocostal Dysostosis 4, Autosomal Recessive
Short thorax, Rib fusion, Hemivertebrae, Vertebral fusion, Abnormality of the odontoid process, M... OMIM:613686
Spondylocostal Dysostosis 5
Scoliosis, Posterior rib fusion, Low back pain, Supernumerary ribs, Pectus carinatum, Hemivertebr... OMIM:122600
Scheuermann Disease
Osteochondrosis, Kyphosis, Morbus Scheuermann OMIM:181440
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Scoliosis, Radioulnar synostosis, Finger syndactyly, Pectus carinatum, Abnormality of the elbow, ... ORPHA:3268
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome
Scoliosis, Fused cervical vertebrae, Abnormal sacrum morphology, Thoracic hemivertebrae ORPHA:1436
Klippel-Feil Syndrome 2, Autosomal Recessive
Scoliosis, Sprengel anomaly, Cervical C2/C3 vertebral fusion, Short neck, Fused cervical vertebrae OMIM:214300
Cervical Vertebral Dysplasia
Cervical vertebral facet hypoplasia, Cervical vertebral dysplasia, Anterior atlanto-occipital dis... OMIM:118005
Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome
Tarsal synostosis, Abnormal form of the vertebral bodies, Posterior fusion of lumbosacral vertebr... ORPHA:2064
Poland Syndrome
Sprengel anomaly, Rib fusion, Short ribs, Unilateral brachydactyly, Hemivertebrae, Syndactyly, Un... OMIM:173800
Dwarfism With Tall Vertebrae
Increased vertebral height OMIM:126950
Vertebral Fusion, Posterior Lumbosacral, With Blepharoptosis
Posterior fusion of lumbosacral vertebrae OMIM:192800
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B
Scoliosis, Tarsal synostosis, Flexion contracture, Fused thoracic vertebrae, Antecubital pterygiu... OMIM:618469
Wildervanck Syndrome
Fused cervical vertebrae OMIM:314600
Mental Retardation, Skeletal Dysplasia, And Abducens Palsy
Scoliosis, Fused cervical vertebrae, Prominent metopic ridge, Thoracic hemivertebrae OMIM:309620
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods
Fusion of midcervical facet joints, Widening of cervical spinal canal, Cervical vertebral bodies ... OMIM:606842
Microcephaly With Cervical Spine Fusion Anomalies
Vertebral fusion, Spinal instability OMIM:251250
Spondylometaphyseal Dysplasia, East African Type
Metaphyseal widening, Ovoid vertebral bodies, Bell-shaped thorax, Short long bone, Coxa vara, Gen... OMIM:611702
Autosomal Dominant Spondylocostal Dysostosis
Scoliosis, Hyperlordosis, Short thorax, Posterior rib fusion, Missing ribs, Spina bifida occulta,... ORPHA:1797
Isolated Klippel-Feil Syndrome
Scoliosis, Abnormality of the vertebral column, Sprengel anomaly, Cervical C2/C3 vertebral fusion... ORPHA:2345
Spondylometaphyseal Dysplasia, Type A4
Platyspondyly, Metaphyseal sclerosis, Metaphyseal irregularity, Osteoporotic metatarsal, Pectus c... OMIM:609052
Neurogenic Thoracic Outlet Syndrome
Abnormality of the ribs ORPHA:100073
Cervical Rib
Cervical ribs OMIM:117900
Asymmetric Short Stature Syndrome
Lumbar scoliosis, Fused cervical vertebrae OMIM:108450
Brachyolmia, Maroteaux Type
Scoliosis, Platyspondyly, Short thorax, Abnormal form of the vertebral bodies, Pectus excavatum ORPHA:93302
Spondylometaphyseal Dysplasia, Corner Fracture Type
Scoliosis, Metaphyseal irregularity, Pectus carinatum, Ovoid vertebral bodies, Coxa vara, Genu va... OMIM:184255
Familial Congenital Mirror Movements
Fused cervical vertebrae ORPHA:238722
Kyphomelic Dysplasia
Anterior rib cupping, Lateral clavicle hook, Short thorax, Narrow chest, Abnormal form of the ver... ORPHA:1801
Spondylometaphyseal Dysplasia, A4 Type
Platyspondyly, Coxa vara, Flared, irregular rib ends, Limitation of joint mobility, Short palm ORPHA:168555
Endosteal Hyperostosis, Worth Type
Sclerotic vertebral body, Abnormal form of the vertebral bodies, Generalized osteosclerosis, Clav... ORPHA:2790
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Hyperlordosis, Abnormal clavicle morphology, Kyphosis, Pectus excavatum, Abnormality of the ribs,... ORPHA:2522
Primary Basilar Invagination
Abnormality of the cervical spine, Short neck, Abnormal vertebral morphology ORPHA:2285
Heart Defects-Limb Shortening Syndrome
Accelerated skeletal maturation, Abnormality of the ribs, Narrow chest, Abnormal form of the vert... ORPHA:1354
Becker Nevus Syndrome
Scoliosis, Abnormality of tibia morphology, Pectus carinatum, Kyphosis, Pectus excavatum, Rib fus... ORPHA:64755
Femoral-Facial Syndrome
Scoliosis, Hip dysplasia, Short femur, Radioulnar synostosis, Sprengel anomaly, Preaxial foot pol... ORPHA:1988
Autosomal Dominant Brachyolmia
Platyspondyly, Increased vertebral height, Short thorax, Kyphoscoliosis ORPHA:93304
Mesomelic Dysplasia, Kantaputra Type
Camptodactyly of finger, Cubitus valgus, Tarsal synostosis, Abnormality of the ankles, Synostosis... ORPHA:1836
Diaphanospondylodysostosis
Short thorax, Enlarged thorax, Absent or minimally ossified vertebral bodies, Abnormal vertebral ... ORPHA:66637
Spondylocostal Dysostosis 6, Autosomal Recessive
Scoliosis, Hemivertebrae, Cervical kyphosis, Spinal canal stenosis, Butterfly vertebrae OMIM:616566
Sprengel Deformity
Scoliosis, Cervical segmentation defect, Sprengel anomaly, Hemivertebrae, Spina bifida occulta, R... OMIM:184400
Kbg Syndrome
Thoracic kyphosis, Rib fusion, Radial deviation of finger, Vertebral fusion, Clinodactyly, Syndac... OMIM:148050
Osteoarthritis With Mild Chondrodysplasia
Platyspondyly, Beaking of vertebral bodies, Hip osteoarthritis, Irregular vertebral endplates, Sc... OMIM:604864
Metatropic Dysplasia
Scoliosis, Abnormality of the ribs, Camptodactyly of finger, Hypoplastic cervical vertebrae, Narr... ORPHA:2635
Wildervanck Syndrome
Short neck, Fused cervical vertebrae ORPHA:3456
Thoracolaryngopelvic Dysplasia
Scoliosis, Hypoplastic pelvis, Horizontal ribs, Irregular vertebral endplates, Short ribs, Hypopl... OMIM:187760
Ankylosing Vertebral Hyperostosis With Tylosis
Vertebral hyperostosis OMIM:106400
Dextrocardia With Unusual Facies And Microphthalmia
Vertebral fusion, Supernumerary ribs, Vertebral segmentation defect OMIM:221950
Osteomesopyknosis
Scoliosis, Sclerotic vertebral body, Abnormal form of the vertebral bodies, Kyphosis, Increased b... ORPHA:2777
Multiple Synostoses Syndrome 2
Humeroradial synostosis, Tarsal synostosis, Proximal symphalangism, Vertebral fusion, Finger symp... OMIM:610017
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type
Platyspondyly, Limited elbow extension, Thoracic hypoplasia, Ovoid vertebral bodies, Irregular ep... OMIM:608728
Spondyloepiphyseal Dysplasia Tarda, Kohn Type
Abnormality of the knee, Platyspondyly, Abnormal vertebral morphology, Restricted large joint mov... ORPHA:163665
Klippel-Feil Syndrome 1, Autosomal Dominant
Scoliosis, Sprengel anomaly, Cervical C2/C3 vertebral fusion, Abnormal vertebral segmentation and... OMIM:118100
Cardiospondylocarpofacial Syndrome
Scoliosis, Tarsal synostosis, Joint laxity, Cone-shaped epiphysis, Rib fusion, Carpal synostosis,... OMIM:157800
Osteogenesis Imperfecta, Type Ix
Scoliosis, Platyspondyly, Wormian bones, Pectus carinatum, Kyphosis, Beaded ribs, Pectus excavatu... OMIM:259440
Acromesomelic Dysplasia, Maroteaux Type
Scoliosis, Hyperlordosis, Abnormal form of the vertebral bodies, Beaking of vertebral bodies, Joi... ORPHA:40
Spondyloepimetaphyseal Dysplasia, Irapa Type
Osteoporosis, Platyspondyly, Abnormality of the ribs, Genu valgum, Short metatarsal, Upper limb u... ORPHA:93351
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Superior rib anomalies, Abnormality of the cervical spine OMIM:307500
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome
Abnormality of the ribs ORPHA:2435
Galactosialidosis
Abnormality of the vertebral column, Abnormal vertebral morphology ORPHA:351
Spondylocamptodactyly Syndrome
Scoliosis, Platyspondyly, Camptodactyly of finger ORPHA:3180
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Scoliosis, Platyspondyly, Distal ulnar epiphyseal stippling, Broad toe, Beaking of vertebral bodi... OMIM:609616
Symbrachydactyly Of Hands And Feet
Scoliosis, Aplasia/Hypoplasia of the radius, Aplasia/Hypoplasia of the thumb, Abnormality of the ... ORPHA:1570
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type
Scoliosis, Platyspondyly, Genu valgum, Decreased hip abduction, Pectus carinatum, Thoracic kyphos... OMIM:609223
Spondyloepimetaphyseal Dysplasia, Irapa Type
Hypoplastic sacrum, Platyspondyly, Genu valgum, Upper limb undergrowth, Short metatarsal, Limited... OMIM:271650
Acropectorovertebral Dysplasia
Toe syndactyly, Spina bifida occulta at L5, Abnormal vertebral morphology, Synostosis of carpal b... OMIM:102510
Autosomal Recessive Spondylocostal Dysostosis
Scoliosis, Camptodactyly of finger, Short thorax, Abnormal form of the vertebral bodies, Finger s... ORPHA:2311
Vater-Like Defects With Pulmonary Hypertension, Laryngeal Webs, And Growth Deficiency
Preaxial hand polydactyly, Posterior rib fusion, Pectus excavatum, Hemivertebrae, Abnormal rib ca... OMIM:608406
Second Metatarsal-Metacarpal Syndrome
Platyspondyly, Synostosis of carpals/tarsals OMIM:269630
Spondylometaphyseal Dysplasia, Axial
Anterior rib cupping, Platyspondyly, Proximal femoral metaphyseal irregularity, Thoracic hypoplas... OMIM:602271
Metaphyseal Chondrodysplasia, Schmid Type
Metaphyseal irregularity, Bowing of the legs, Femoral bowing, Hip dysplasia, Ulnar metaphyseal ir... ORPHA:174
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism
Flexion contracture, Cervical C2/C3 vertebral fusion, Thoracolumbar scoliosis, Acetabular dysplas... OMIM:616549
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3
Scoliosis, Platyspondyly, Dislocated radial head, Multiple joint dislocation, Joint laxity, Metap... OMIM:618395
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A
Scoliosis, Multiple pterygia, Craniosynostosis, Arthrogryposis multiplex congenita, Tarsal synost... OMIM:178110
Spondyloepiphyseal Dysplasia, Maroteaux Type
Platyspondyly, Genu valgum OMIM:184095
Thrombocytopenia-Absent Radius Syndrome
Scoliosis, Fibular aplasia, Broad thumb, Finger syndactyly, Adducted thumb, Aplasia/Hypoplasia of... ORPHA:3320
Kniest Dysplasia
Joint stiffness, Delayed epiphyseal ossification, Short neck, Vertebral wedging, Short thorax, Fl... ORPHA:485
Metatropic Dysplasia
Scoliosis, Arthrogryposis multiplex congenita, Narrow chest, Dumbbell-shaped metaphyses, Absent p... OMIM:156530
Spondylometaphyseal Dysplasia, Kozlowski Type
Irregular acetabular roof, Platyspondyly, Enlarged joints, Pectus carinatum, Carpal bone hypoplas... OMIM:184252
Becker Nevus Syndrome
Scoliosis, Pectus excavatum, Cervical ribs, Hemivertebrae OMIM:604919
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Scoliosis, Supernumerary vertebrae, Rib fusion, Short ribs, Hemivertebrae, Vertebral fusion, Thin... OMIM:271520
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Disc-like vertebral bodies, Narrow chest, Hypoplastic ilia, Decreased cranial base ossification, ... OMIM:151210
Frontometaphyseal Dysplasia 1
Scoliosis, Genu valgum, Camptodactyly of finger, Anteriorly placed odontoid process, Scapular win... OMIM:305620
Osteogenesis Imperfecta, Type Xv
Scoliosis, Platyspondyly, Joint hypermobility, Recurrent fractures, Thin ribs, Bowing of limbs du... OMIM:615220
Thanatophoric Dysplasia, Type Ii
Platyspondyly, Metaphyseal irregularity, Narrow chest, Hypoplastic ilia, Wide-cupped costochondra... OMIM:187601
Epiphyseal Dysplasia, Multiple, 6
Flat distal femoral epiphysis, Abnormality of the knee, Irregular epiphyses, Knee pain, Intervert... OMIM:614135
Fibrodysplasia Ossificans Progressiva
Scoliosis, Small cervical vertebral bodies, Short hallux, Short 1st metacarpal, Ectopic ossificat... OMIM:135100
Osteogenesis Imperfecta, Type Xix
Scoliosis, Biconcave vertebral bodies, Pectus carinatum, Pectus excavatum, Recurrent fractures, O... OMIM:301014
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Vertebral fusion, Short thorax, Vertebral segmentation defect, Sacral dimple OMIM:618845
Spondyloepimetaphyseal Dysplasia, Strudwick Type
Scoliosis, Platyspondyly, Hyperlordosis, Genu valgum, Delayed pubic bone ossification, Anterior r... OMIM:184250
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2
Abnormality of the ribs, Short neck, Vertebral segmentation defect ORPHA:2578
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome
Short 3rd metacarpal, Short toe, Broad thumb, Short 5th metacarpal, 3-4 finger cutaneous syndacty... ORPHA:370010
Kuskokwim Syndrome
Scoliosis, Abnormal clavicle morphology, Abnormal form of the vertebral bodies, Aplasia/Hypoplasi... ORPHA:1149
Spondyloepimetaphyseal Dysplasia, Missouri Type
Radial bowing, Platyspondyly, Limited elbow extension, Flared iliac wing, Ulnar bowing, Irregular... OMIM:602111
Stapes Ankylosis With Broad Thumbs And Toes
Fused cervical vertebrae, Proximal/middle symphalangism of 5th finger OMIM:184460
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Scoliosis, Platyspondyly, Metaphyseal irregularity, Hypoplastic inferior ilia, Ovoid vertebral bo... OMIM:608940
Brachyolmia Type 2
Platyspondyly OMIM:613678
Lamb-Shaffer Syndrome
Scoliosis, Thoracic kyphosis, Fused cervical vertebrae ORPHA:530983
Acrocapitofemoral Dysplasia
Scoliosis, Narrow chest, Flared iliac wing, Ovoid vertebral bodies, Short distal phalanx of finge... OMIM:607778
Acrodysplasia Scoliosis
Scoliosis, Vertebral segmentation defect, Spina bifida occulta ORPHA:2956
Schneckenbecken Dysplasia
Anterior rib cupping, Lateral clavicle hook, Advanced tarsal ossification, Metaphyseal irregulari... OMIM:269250
Cerebrofaciothoracic Dysplasia
Scoliosis, Narrow chest, Sprengel anomaly, Rib fusion, Hemivertebrae, Short neck, Vertebral segme... ORPHA:1394
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis
Osteolysis, Joint swelling, Broad ribs, Flaring of rib cage, Osteopenia, Fused cervical vertebrae... OMIM:612852
Pseudoachondroplasia
Scoliosis, Irregular carpal bones, Short phalanx of finger, Metaphyseal irregularity, Joint laxit... OMIM:177170
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Abnormal clavicle morphology, Platyspondyly, Abnormality of the ribs, Narrow chest, Abnormality o... ORPHA:93267
Osteogenesis Imperfecta, Type Vi
Protrusio acetabuli, Joint laxity, Biconcave vertebral bodies, Beaking of vertebral bodies, Incre... OMIM:613982
Juberg-Hayward Syndrome
Scoliosis, Hypoplasia of the radius, Toe syndactyly, Abnormality of finger, Abnormal vertebral mo... ORPHA:2319
Lethal Congenital Contracture Syndrome Type 1
Abnormal form of the vertebral bodies, Abnormality of the elbow, Recurrent fractures, Slender lon... ORPHA:1486
Dyggve-Melchior-Clausen Disease
Iliac crest serration, Short neck, Atlantoaxial instability, Genu valgum, Short thorax, Limited e... ORPHA:239
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome
Abnormal form of the vertebral bodies, Hemivertebrae, Abnormality of the ribs, Short neck, Abnorm... ORPHA:2234
Microphthalmia, Syndromic 3
Vertebral hypoplasia, Rib fusion, Hemivertebrae, Vertebral fusion, Supernumerary ribs, Missing ri... OMIM:206900
Vertebral Hypoplasia With Lumbar Kyphosis
Vertebral hypoplasia, Lumbar kyphosis OMIM:192900
Multiple Pterygium Syndrome, Escobar Variant
Scoliosis, Arthrogryposis multiplex congenita, Anterior clefting of vertebral bodies, Neck pteryg... OMIM:265000
Spondylocostal Dysostosis-Anal Atresia-Genitourinary Malformation Syndrome
Scoliosis, Narrow chest, Rib fusion, Hemivertebrae, Vertebral fusion, 11 pairs of ribs, Short neck ORPHA:94095
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Scoliosis, Hyperlordosis, Genu valgum, Short thorax, Accelerated skeletal maturation, Coronal cle... OMIM:618363
Atelosteogenesis, Type I
Radial bowing, Club-shaped proximal femur, Fibular aplasia, Short femur, Short metatarsal, Corona... OMIM:108720
Axial Spondylometaphyseal Dysplasia
Platyspondyly, Proximal femoral metaphyseal irregularity, Thoracic hypoplasia, Delayed skeletal m... ORPHA:168549
Diastrophic Dwarfism
Scoliosis, Elbow dislocation, Abnormality of the metacarpal bones, Increased bone mineral density... ORPHA:628
Thoracomelic Dysplasia
Hyperlordosis, Genu valgum, Narrow chest, Elbow dislocation, Joint hyperflexibility, Bell-shaped ... ORPHA:1803
Pseudoachondroplasia
Scoliosis, Irregular carpal bones, Short phalanx of finger, Metaphyseal irregularity, Joint laxit... ORPHA:750
Myotonia With Skeletal Abnormalities And Mental Retardation
Genu valgum, Pectus carinatum, Bell-shaped thorax, Kyphoscoliosis, Vertebral wedging, Irregular f... OMIM:255710
Pontine Tegmental Cap Dysplasia
Scoliosis, Rib fusion, Ankle clonus, Hemivertebrae OMIM:614688
Jeune Syndrome
Abnormal clavicle morphology, Abnormality of the ribs, Short thorax, Postaxial hand polydactyly, ... ORPHA:474
Holt-Oram Syndrome
Scoliosis, Abnormal clavicle morphology, Broad thumb, Radioulnar synostosis, Finger syndactyly, S... ORPHA:392
Bruck Syndrome 1
Scoliosis, Platyspondyly, Osteoporosis, Protrusio acetabuli, Joint laxity, Pectus carinatum, Kyph... OMIM:259450
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Platyspondyly, Metaphyseal cupping of metacarpals, Hypoplastic iliac wing, Metaphyseal cupping, T... OMIM:300863
Osteogenesis Imperfecta, Type Xvi
Joint hypermobility, Beaded ribs, Osteopenia, Vertebral compression fracture OMIM:616229
Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant
Platyspondyly, Pectus carinatum, Barrel-shaped chest, Knee pain, Irregular vertebral endplates, L... OMIM:184100
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy
Wormian bones, Flared iliac wing, Thoracic kyphosis, Small epiphyses, Short femoral neck, Short n... OMIM:300232
White Forelock With Malformations
Finger syndactyly, Joint hyperflexibility, Sprengel anomaly, Spina bifida occulta, Abnormality of... ORPHA:2475
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Sprengel anomaly, Pectus excavatum, Spina bifida occulta, Fused cervical vertebrae, Butterfly ver... OMIM:619227
Spondyloepiphyseal Dysplasia Tarda, X-Linked
Scoliosis, Platyspondyly, Shield chest, Barrel-shaped chest, Hip osteoarthritis, Kyphosis, Irregu... OMIM:313400
Brachydactyly, Type B1
Hypoplastic sacrum, Broad thumb, Short middle phalanx of finger, Aplasia/Hypoplasia of the distal... OMIM:113000
Spinal Dysplasia, Anhalt Type
Narrow anterio-posterior vertebral body diameter, Osteoarthritis of the small joints of the hand,... OMIM:601344
Fibrochondrogenesis 2
Platyspondyly, Thoracic hypoplasia, Hypoplastic ilia, Metaphyseal cupping, Hypoplastic pubic bone... OMIM:614524
Osteogenesis Imperfecta, Type Ii
Platyspondyly, Wormian bones, Broad long bones, Beaded ribs, Absent ossification of calvaria, Rec... OMIM:166210
Spondyloepimetaphyseal Dysplasia With Joint Laxity
Scoliosis, Platyspondyly, Hip dysplasia, Dislocated radial head, Limited elbow extension, Joint l... ORPHA:93359
Craniodiaphyseal Dysplasia
Abnormality of the ribs, Diaphyseal thickening ORPHA:1513
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Scoliosis, Abnormal form of the vertebral bodies, Sprengel anomaly, Sandal gap, Hemivertebrae, Ab... ORPHA:2180
Thanatophoric Dysplasia, Type I
Metaphyseal irregularity, Narrow chest, Hypoplastic ilia, Short greater sciatic notch, Wide-cuppe... OMIM:187600
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia
Genu valgum, Delayed pubic bone ossification, Metaphyseal irregularity, Enlarged epiphyses, Hypop... OMIM:613330
Spondyloepimetaphyseal Dysplasia, Shohat Type
Vertebral hypoplasia, Platyspondyly, Joint laxity, Metaphyseal irregularity, Central vertebral hy... OMIM:602557
Mucopolysaccharidosis Type 4
Scoliosis, Platyspondyly, Hyperlordosis, Genu valgum, Short thorax, Abnormality of epiphysis morp... ORPHA:582
Achondrogenesis, Type Ii
Broad long bones, Horizontal ribs, Absent vertebral body mineralization, Short ribs, Hypoplastic ... OMIM:200610
Greenberg Dysplasia
Platyspondyly, Abnormal bone ossification, Narrow chest, Abnormal form of the vertebral bodies, A... ORPHA:1426
Rhizomelic Dysplasia, Scoliosis, And Retinitis Pigmentosa
Scoliosis, Short neck, Broad ribs, Biconcave vertebral bodies, Short ribs, Short humerus, Short c... OMIM:610319
Laryngotracheoesophageal Cleft Type 4
Abnormality of the ribs, Abnormal form of the vertebral bodies ORPHA:93941
Osteogenesis Imperfecta, Type Xxi
Scoliosis, Platyspondyly, Wormian bones, Joint hypermobility, Osteoporosis, Pectus excavatum, Bel... OMIM:619131
Dyggve-Melchior-Clausen Disease
Scoliosis, Short metatarsal, Shield chest, Thoracic kyphosis, Carpal bone hypoplasia, Camptodacty... OMIM:223800
Achondrogenesis, Type Ia
Hypoplasia of the radius, Unossified vertebral bodies, Abnormal hand bone ossification, Barrel-sh... OMIM:200600
Autosomal Recessive Multiple Pterygium Syndrome
Scoliosis, Camptodactyly of finger, Multiple pterygia, Axillary pterygium, Arthrogryposis multipl... ORPHA:2990
Proximal 16P11.2 Microdeletion Syndrome
Scoliosis, Craniosynostosis, Hand polydactyly, Abnormal vertebral morphology, Rib fusion ORPHA:261197
Robinow Syndrome, Autosomal Recessive 1
Scoliosis, Hypoplastic sacrum, Bifid distal phalanx of toe, Broad thumb, Short digit, Short neck,... OMIM:268310
Polydactyly, Postaxial, With Dental And Vertebral Anomalies
Postaxial hand polydactyly, Tarsal synostosis, Toe syndactyly, Broad toe, Narrow chest, Pectus ca... OMIM:263540
Keratoconus Posticus Circumscriptus
Short neck, Limited elbow extension and supination, Abnormal vertebral segmentation and fusion OMIM:244600
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies
Abnormality of the ribs, Joint hypermobility, Pectus excavatum, Hypoplastic distal segments of sc... OMIM:602196
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Lateral clavicle hook, Narrow chest, Horizontal ribs, Postaxial polydactyly, Bell-shaped thorax, ... OMIM:615633
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Abnormal form of the vertebral bodies, Joint hyperflexibility, Hemivertebrae, Clinodactyly of the... ORPHA:2759
Mosaic Trisomy 14
Abnormality of the ribs, Camptodactyly of finger, Short neck, Narrow chest ORPHA:1703
Spondylometaphyseal Dysplasia, Algerian Type
Anterior rib cupping, Platyspondyly, Genu valgum, Hypoplastic pelvis, Carpal bone hypoplasia, Fla... OMIM:184253
Mosaic Trisomy 20
Scoliosis, Narrow chest, Kyphosis, Down-sloping shoulders, Vertebral segmentation defect, Vertebr... ORPHA:1724
Achondrogenesis Type 1B
Short thorax, Narrow chest, Abnormal enchondral ossification, Short foot, Abnormality of the ribs... ORPHA:93298
Metaphyseal Dysostosis, Mental Retardation, And Conductive Deafness
Scoliosis, Joint laxity, Metaphyseal irregularity, Carpal bone hypoplasia, Genu valgum, Narrow il... OMIM:250420
Multiple Synostoses Syndrome 1
Fusion of midphalangeal joints, Tarsal synostosis, Lower limb undergrowth, Short lower limbs, Abs... OMIM:186500
Verheij Syndrome
Scoliosis, Hemivertebrae, Vertebral fusion, Hip dislocation, Short neck OMIM:615583
Septopreoptic Holoprosencephaly
Abnormality of the ribs, Abnormal vertebral morphology ORPHA:280195
Spondylometaphyseal Dysplasia, Kozlowski Type
Scoliosis, Platyspondyly, Genu valgum, Short thorax, Enlarged joints, Narrow chest, Abnormality o... ORPHA:93314
Grant Syndrome
Wormian bones, Abnormality of the glenoid fossa, Narrow chest, Joint hyperflexibility, Sprengel a... ORPHA:2097
Smith-Mccort Dysplasia 1
Scoliosis, Platyspondyly, Atlantoaxial instability, Multicentric femoral head ossification, Genu ... OMIM:607326
Phaver Syndrome
Camptodactyly of finger, Broad thumb, Radioulnar synostosis, Abnormal form of the vertebral bodie... ORPHA:2876
Mucopolysaccharidosis, Type Iva
Scoliosis, Platyspondyly, Hyperlordosis, Genu valgum, Prominent sternum, Constricted iliac wing, ... OMIM:253000
Osteogenesis Imperfecta, Type Xviii
Wormian bones, Joint hypermobility, Joint laxity, Biconcave vertebral bodies, Bowing of the long ... OMIM:617952
Spondylometaphyseal Dysplasia With Corneal Dystrophy
Squared iliac bones, Lumbar platyspondyly, Narrow chest, Beaking of vertebral bodies, Short ribs,... OMIM:618961
Fibrochondrogenesis
Camptodactyly of finger, Broad ribs, Narrow chest, Abnormal form of the vertebral bodies, Hypopla... ORPHA:2021
Melnick-Needles Syndrome
Scoliosis, Abnormality of the ribs, Short thorax, Anisospondyly, Narrow chest, Joint hyperflexibi... ORPHA:2484
Developmental And Speech Delay Due To Sox5 Deficiency
Scoliosis, Thoracic kyphoscoliosis, Pectus carinatum, Lumbar hyperlordosis, Vertebral fusion, But... ORPHA:313892
3M Syndrome
Scoliosis, Congenital hip dislocation, Enlarged thorax, Abnormality of the elbow, Horizontal ribs... ORPHA:2616
Multiple Pterygium Syndrome, X-Linked
Multiple pterygia, Flexion contracture, Vertebral fusion, Abnormal cervical curvature, Thin ribs,... OMIM:312150
Thin Ribs-Tubular Bones-Dysmorphism Syndrome
Abnormality of the ribs, Slender long bone, Abnormality of pelvic girdle bone morphology ORPHA:1506
Osteogenesis Imperfecta, Type Iii
Scoliosis, Wormian bones, Protrusio acetabuli, Biconcave vertebral bodies, Kyphosis, Decreased ca... OMIM:259420
Cole-Carpenter Syndrome
Scoliosis, Wormian bones, Abnormal form of the vertebral bodies, Joint hyperflexibility, Kyphosis... ORPHA:2050
Endosteal Hyperostosis, Autosomal Dominant
Metacarpal diaphyseal endosteal sclerosis, Sclerotic vertebral body, Metatarsal diaphyseal endost... OMIM:144750
Femoral-Facial Syndrome
Scoliosis, Short fifth metatarsal, Preaxial hand polydactyly, Humeroradial synostosis, Radioulnar... OMIM:134780
Idiopathic Juvenile Osteoporosis
Osteoporosis, Kyphosis, Recurrent fractures, Bone pain, Vertebral compression fracture ORPHA:85193
Mucolipidosis Iii Gamma
Scoliosis, Hyperlordosis, Genu valgum, Flared iliac wing, Pectus carinatum, Kyphosis, Abnormal ri... OMIM:252605
Mucopolysaccharidosis, Type Ivb
Scoliosis, Platyspondyly, Hyperlordosis, Genu valgum, Prominent sternum, Constricted iliac wing, ... OMIM:253010
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome
Aplasia/Hypoplasia of fingers, Postaxial hand polydactyly, Toe syndactyly, Abnormality of epiphys... ORPHA:3082
Ring Chromosome 21 Syndrome
Scoliosis, Abnormal thorax morphology, Fused thoracic vertebrae, Thoracic hemivertebrae, Clinodac... ORPHA:1445
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Radial bowing, Bowing of the long bones, Tibial bowing, Abnormally ossified vertebrae, Lower limb... ORPHA:3035
Multiple Pterygium Syndrome, Lethal Type
Multiple pterygia, Flexion contracture, Vertebral fusion, Abnormal cervical curvature, Thin ribs,... OMIM:253290
Ophthalmoplegia, External, With Rib And Vertebral Anomalies
Scoliosis, Pectus excavatum, Short ribs, Pseudoarthrosis, Missing ribs OMIM:618155
Achondrogenesis Type 1A
Short thorax, Narrow chest, Abnormal enchondral ossification, Recurrent fractures, Multiple rib f... ORPHA:93299
Fibrochondrogenesis 1
Camptodactyly, Hypoplastic ischia, Narrow greater sciatic notch, Short neck, Thin clavicles, Post... OMIM:228520
Craniofaciofrontodigital Syndrome
Abnormal thumb morphology, Narrow chest, Abnormal hip bone morphology, Abnormality of the ribs, A... ORPHA:363705
Mayer-Rokitansky-Küster-Hauser Syndrome
Vertebral fusion, Vertebral segmentation defect, Abnormal sacrum morphology, Abnormal form of the... ORPHA:3109
Cooper-Jabs Syndrome
Scoliosis, Camptodactyly of finger, Joint hyperflexibility, Reduced bone mineral density, Abnorma... ORPHA:1488
Nestor-Guillermo Progeria Syndrome
Scoliosis, Osteolytic defects of the distal phalanges of the hand, Delayed closure of the anterio... OMIM:614008
Cog1-Cdg
Irregularity of vertebral bodies, Posterior rib gap, Rib fusion, Short long bone, Flat acetabular... ORPHA:263508
Kbg Syndrome
Scoliosis, Finger clinodactyly, Thoracic kyphosis, Persistent open anterior fontanelle, Vertebral... ORPHA:2332
Aicardi Syndrome
Scoliosis, Hip dysplasia, Rib fusion, Small hand, Block vertebrae, Supernumerary ribs, Missing ri... ORPHA:50
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Scoliosis, Hyperlordosis, Kyphosis, Achilles tendon contracture, Vertebral fusion OMIM:606612
Dysosteosclerosis
Delayed closure of the anterior fontanelle, Narrow chest, Increased susceptibility to fractures, ... OMIM:224300
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Platyspondyly, Metaphyseal chondrodysplasia, Metaphyseal cupping of metacarpals, Hypoplastic ilia... ORPHA:163966
Craniofacial Dysmorphism, Skeletal Anomalies, And Mental Retardation Syndrome
Scoliosis, Joint hypermobility, Postaxial hand polydactyly, Craniosynostosis, Overlapping toe, Na... OMIM:213980
Frontometaphyseal Dysplasia
Scoliosis, Limited wrist movement, Craniosynostosis, Short metatarsal, Short phalanx of finger, B... ORPHA:1826
Thrombocytopenia-Absent Radius Syndrome
Broad thumb, Short phalanx of finger, Carpal bone hypoplasia, Phocomelia, Lateral clavicle hook, ... OMIM:274000
Otopalatodigital Syndrome Type 1
Short hallux, Abnormality of the tarsal bones, Synostosis of carpal bones, Elbow dislocation, Bow... ORPHA:90650
Fanconi Anemia, Complementation Group I
Short neck, Fused cervical vertebrae OMIM:609053
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Abnormality of the ribs, Sprengel anomaly, Abnormality of the vertebral column OMIM:601076
Osteogenesis Imperfecta, Type Viii
Scoliosis, Platyspondyly, Radial bowing, Wormian bones, Joint laxity, Kyphosis, Recurrent fractur... OMIM:610915
Arnold-Chiari Malformation Type I
Scoliosis, Anteriorly placed odontoid process, Cervical C2/C3 vertebral fusion, Stiff neck, Fused... ORPHA:268882
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Scoliosis, Platyspondyly, Hyperlordosis, Decreased hip abduction, Bowing of the long bones, Metap... ORPHA:85167
Infantile-Onset X-Linked Spinal Muscular Atrophy
Arthrogryposis multiplex congenita, Short ribs, Interphalangeal joint contracture of finger, Knee... ORPHA:1145
Mucopolysaccharidosis, Type Iiia
Thickened ribs, Ovoid thoracolumbar vertebrae, Joint stiffness, Dense calvaria OMIM:252900
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia
Short 2nd metacarpal, Lateral clavicle hook, Radioulnar synostosis, Elbow dislocation, Split hand... OMIM:171480
Mucopolysaccharidosis, Type Vi
Hip dysplasia, Genu valgum, Metaphyseal widening, Prominent sternum, Broad ribs, Metaphyseal irre... OMIM:253200
Spondyloepimetaphyseal Dysplasia, Shohat Type
Scoliosis, Generalized bone demineralization, Joint laxity, Metaphyseal irregularity, Bowing of t... ORPHA:93352
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Wormian bones, Broad ribs, Increased bone mineral density, Abnormal diaphysis morphology, Short t... ORPHA:85184
Lethal Kniest-Like Dysplasia
Anterior rib cupping, Platyspondyly, Coronal cleft vertebrae, Abnormality of the ischium, Narrow ... ORPHA:2347
Baller-Gerold Syndrome
Scoliosis, Lambdoidal craniosynostosis, Aphalangy of the hands, Limited shoulder movement, Absent... OMIM:218600
Spondyloepimetaphyseal Dysplasia, X-Linked
Short phalanx of finger, Metaphyseal irregularity, Flared iliac wing, Broad long bone diaphyses, ... OMIM:300106
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome
Scoliosis, Abnormal form of the vertebral bodies, Elbow dislocation, Kyphosis, Hemivertebrae, Ver... ORPHA:2916
Opsismodysplasia
Scoliosis, Anterior rib cupping, Squared iliac bones, Narrow chest, Metaphyseal cupping, Hypoplas... OMIM:258480
Aicardi Syndrome
Scoliosis, Bifid ribs, Rib fusion, Hemivertebrae, Block vertebrae, Proximal placement of thumb, S... OMIM:304050
Congenital Disorder Of Glycosylation, Type Iig
Scoliosis, Camptodactyly, Small hand, Short foot, Abnormality of the ribs, Osteopenia, Short neck... OMIM:611209
Holzgreve Syndrome
Hand polydactyly, Abnormality of the metacarpal bones, Abnormally ossified vertebrae, Joint stiff... ORPHA:2167
Cortical Defects, Wormian Bones, And Dentinogenesis Imperfecta
Limited elbow extension, Delayed closure of the anterior fontanelle, Wormian bones, Thin ribs, As... OMIM:604922
Spondylometaphyseal Dysplasia, Sedaghatian Type
Accelerated skeletal maturation, Platyspondyly, Metaphyseal chondrodysplasia, Narrow chest, Short... ORPHA:93317
Cenani-Lenz Syndrome
Scoliosis, Oligodactyly, Hypoplasia of the radius, Toe syndactyly, Radioulnar synostosis, Abnorma... ORPHA:3258
Mucopolysaccharidosis Type 6
Genu valgum, Broad ribs, Ovoid vertebral bodies, Kyphosis, Joint stiffness, Abnormality of the me... ORPHA:583
Hyperparathyroidism, Transient Neonatal
Narrow chest, Short ribs, Thin ribs, Osteopenia, Femoral bowing OMIM:618188
Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly
Scoliosis, Narrow chest, Polydactyly, Short ribs, Short long bone, Brachydactyly OMIM:613819
Nivelon-Nivelon-Mabille Syndrome
Abnormal clavicle morphology, Short phalanx of finger, Narrow chest, Trapezoidal shaped vertebral... OMIM:600092
Short Stature And Facioauriculothoracic Malformations
Pectus carinatum, Pectus excavatum, Cervical ribs, Abnormality of the odontoid process, Short neck OMIM:609654
Microcephaly, Short Stature, And Limb Abnormalities
Dislocated radial head, Hypoplasia of the radius, Radioulnar synostosis, Short metacarpal, Patell... OMIM:617604
Microcephalic Primordial Dwarfism, Toriello Type
Abnormality of the ribs, Brachydactyly, Delayed skeletal maturation, Abnormality of epiphysis mor... ORPHA:2643
Three M Syndrome 2
Hyperlordosis, Prominent calcaneus, Short thorax, Scapular winging, Pectus carinatum, Lumbar hype... OMIM:612921
Mucolipidosis Iii Alpha/Beta
Scoliosis, Irregular carpal bones, Craniosynostosis, Broad ribs, Split hand, Carpal bone hypoplas... OMIM:252600
Thakker-Donnai Syndrome
Cervical C2/C3 vertebral fusion, Short neck, Hemivertebrae ORPHA:1780
Craniodiaphyseal Dysplasia, Autosomal Dominant
Thickened ribs, Craniofacial osteosclerosis, Cortical sclerosis, Diaphyseal sclerosis OMIM:122860
10Q22.3Q23.3 Microduplication Syndrome
Abnormality of the ribs, Abnormal clavicle morphology ORPHA:276422
Cole-Carpenter Syndrome 2
Platyspondyly, Wormian bones, Lambdoidal craniosynostosis, Kyphosis, Pectus excavatum, Narrow ili... OMIM:616294
Acro-Renal-Mandibular Syndrome
Scoliosis, Abnormal clavicle morphology, Hypoplasia of the radius, Rudimentary fibula, Finger syn... ORPHA:958
Osteogenesis Imperfecta, Type X
Scoliosis, Platyspondyly, Genu valgum, Broad ribs, Narrow chest, Joint laxity, Generalized joint ... OMIM:613848
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome
Hyperlordosis, Pectus carinatum, Abnormal hip bone morphology, Limitation of joint mobility, Abno... ORPHA:3068
Wolf-Hirschhorn Syndrome
Scoliosis, Short hallux, Hypoplastic pubic rami, Preaxial hand polydactyly, Osteoporosis, Abnorma... ORPHA:280
Gorlin Syndrome
Scoliosis, Vertebral wedging, Vertebral fusion, Hemivertebrae ORPHA:377
Autosomal Recessive Robinow Syndrome
Scoliosis, Broad thumb, Elbow dislocation, Split hand, Broad hallux phalanx, Sandal gap, Short di... ORPHA:1507
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome
Tapered toe, Rib fusion, Sacral dimple, Clinodactyly of the 5th finger, Tapered finger ORPHA:544488
Pallister-Hall Syndrome
Oligodactyly, Short 4th metacarpal, Postaxial hand polydactyly, Y-shaped metacarpals, Toe syndact... OMIM:146510
Arthrogryposis, Distal, Type 3
Camptodactyly of finger, Arthrogryposis multiplex congenita, Decreased hip abduction, Congenital ... OMIM:114300
Thoracic Outlet Syndrome
Abnormality of the ribs ORPHA:97330
Pyknoachondrogenesis
Aplastic pubic bones, Short thorax, Short iliac bones, Poorly ossified vertebrae, Enlarged thorax... ORPHA:3003
Hypophosphatasia
Abnormality of the ribs, Craniosynostosis, Narrow chest, Bowing of the long bones, Recurrent frac... ORPHA:436
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Preaxial hand polydactyly, Abnormal thumb morphology, Short distal phalanx of finger, Short thumb... ORPHA:1120
X-Linked Hypophosphatemia
Craniosynostosis, Flared iliac wing, Bone pain, Generalized osteosclerosis, Rachitic rosary, Bowi... ORPHA:89936
Mucopolysaccharidosis, Type Iiib
Thickened ribs, Ovoid thoracolumbar vertebrae, Joint stiffness, Dense calvaria OMIM:252920
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Cervical hemivertebrae, Broad thumb, Thoracic kyphosis, Hypermobility of interphalangeal joints, ... ORPHA:508498
Hypertrichotic Osteochondrodysplasia, Cantu Type
Short hallux, Platyspondyly, Accelerated skeletal maturation, Osteoporosis, Broad ribs, Narrow ch... ORPHA:1517
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Scoliosis, Hyperlordosis, Kyphosis, Achilles tendon contracture, Vertebral fusion OMIM:607155
Kniest-Like Dysplasia, Lethal
Platyspondyly, Broad ribs, Coronal cleft vertebrae, Metaphyseal irregularity, Short diaphyses, Na... OMIM:245190
Kyphomelic Dysplasia
Anterior rib cupping, Platyspondyly, Radial bowing, Short femur, Bowed humerus, Lateral clavicle ... OMIM:211350
Familial Osteodysplasia, Anderson Type
Scoliosis, Abnormal form of the vertebral bodies, Elbow dislocation, Kyphosis, Recurrent fracture... ORPHA:2769
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Bulging epiphyses, Enlargement of the ankles, Metaphyseal irregularity, Rickets, Bulging of the c... OMIM:600081
Alkaptonuria
Intervertebral disc degeneration, Low back pain, Kyphosis, Limited hip movement, Limitation of kn... OMIM:203500
Cat-Eye Syndrome
Hip dysplasia, Abnormality of the ribs ORPHA:195
Microcephaly-Micromelia Syndrome
Oligodactyly, Humeroradial synostosis, Craniosynostosis, Narrow chest, Forearm undergrowth, Absen... OMIM:251230
Spondylometaphyseal Dysplasia, Sedaghatian Type
Short phalanx of finger, Metaphyseal irregularity, Flared iliac wing, Narrow chest, Iliac crest s... OMIM:250220
Craniometadiaphyseal Dysplasia
Scoliosis, Genu valgum, Wormian bones, Cubitus valgus, Broad ribs, Broad long bones, Flared metap... OMIM:269300
Ossification Anomalies-Psychomotor Developmental Delay Syndrome
Clubbing of fingers, Generalized bone demineralization, Abnormal bone ossification, Narrow chest,... ORPHA:73230
Cleidocranial Dysplasia
Scoliosis, Wormian bones, Narrow chest, Abnormality of the metacarpal bones, Short clavicles, Spi... ORPHA:1452
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Abnormality of the ribs, Joint hyperflexibility, Decreased calvarial ossification, Recurrent frac... ORPHA:2772
Poland Syndrome
Scoliosis, Absent hand, Split hand, Abnormal sternum morphology, Hemivertebrae, Unilateral brachy... ORPHA:2911
Campomelia, Cumming Type
Bowing of the long bones, Abnormal thorax morphology, Abnormally ossified vertebrae, Clubbing of ... ORPHA:1318
Cervical Ribs, Sprengel Anomaly, Anal Atresia, And Urethral Obstruction
Sprengel anomaly, Preaxial hand polydactyly, Cervical ribs, Thoracolumbar scoliosis OMIM:601389
Aarskog-Scott Syndrome
Camptodactyly of finger, Finger syndactyly, Genu recurvatum, Joint hyperflexibility, Pectus excav... ORPHA:915
Lateral Meningocele Syndrome
Scoliosis, Joint hypermobility, Wormian bones, Biconcave vertebral bodies, Kyphosis, Pectus excav... OMIM:130720
Axial Mesodermal Dysplasia Spectrum
Scoliosis, Abnormality of the knee, Abnormal form of the vertebral bodies, Missing ribs, Abnormal... ORPHA:1834
Mucopolysaccharidosis, Type Iiic
Thickened ribs, Dense calvaria, Ovoid thoracolumbar vertebrae, Joint stiffness, Kyphoscoliosis OMIM:252930
Autosomal Recessive Kenny-Caffey Syndrome
Cortical thickening of long bone diaphyses, Thin ribs, Stenosis of the medullary cavity of the lo... ORPHA:93324
Brachytelephalangic Chondrodysplasia Punctata
Epiphyseal stippling, Short distal phalanx of toe, Short distal phalanx of finger, Calcaneal epip... ORPHA:79345
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Platyspondyly, Wormian bones, Short femur, Thoracic hypoplasia, Beaded ribs, Flexion contracture,... OMIM:616897
Congenital Pseudoarthrosis Of The Clavicle
Cervical ribs, Osteoarthritis, Congenital pseudoarthrosis of the clavicle ORPHA:66630
Spondylocarpotarsal Synostosis Syndrome
Scoliosis, Tarsal synostosis, C2-C3 subluxation, Short neck, Vertebral segmentation defect, Hyper... OMIM:272460
Robinow Syndrome
Scoliosis, Radioulnar dislocation, Rib fusion, Fused thoracic vertebrae, Short distal phalanx of ... ORPHA:97360
Prune Belly Syndrome
Scoliosis, Congenital hip dislocation, Pectus excavatum, Abnormality of the ribs, Vertebral segme... ORPHA:2970
Caudal Regression Sequence
Scoliosis, Abnormal iliac wing morphology, Joint stiffness, Abnormal vertebral segmentation and f... ORPHA:3027
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type
Scoliosis, Epiphyseal stippling, Hip subluxation, Short phalanx of finger, Flared iliac wing, Tri... OMIM:271665
Vertebral Hypersegmentation And Orofacial Anomalies
Joint hypermobility, Scapular winging, Pectus excavatum, Six lumbar vertebrae, Supernumerary ribs OMIM:619122
Holt-Oram Syndrome
Limited elbow extension, Hypoplasia of the radius, Abnormal vertebral morphology, Finger clinodac... OMIM:142900
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Scoliosis, Lateral clavicle hook, Absent tibia, Thoracic hypoplasia, Preaxial polydactyly, Horizo... OMIM:613091
Cerebral-Cerebellar-Coloboma Syndrome, X-Linked
Abnormality of the ribs OMIM:300864
Cartilage-Hair Hypoplasia
Scoliosis, Limited elbow extension, Joint hypermobility, Short palm, Metaphyseal cupping, Lumbar ... OMIM:250250
Craniosynostosis, Herrmann-Opitz Type
Craniosynostosis, Finger syndactyly, Split hand, Abnormality of the ribs, Brachydactyly ORPHA:2145
Sclerosteosis 1
2-3 finger syndactyly, Broad ribs, Sclerotic vertebral endplates, Broad clavicles, Cortically den... OMIM:269500
Sillence Syndrome
Scoliosis, Large iliac wing, Abnormal proximal phalanx morphology of the hand, Broad thumb, Campt... ORPHA:3168
Craniofaciofrontodigital Syndrome
Cubitus valgus, Joint hypermobility, Broad ribs, Hypoplastic pelvis, Pectus excavatum, Short neck... OMIM:114620
Basal Cell Nevus Syndrome
Scoliosis, Short 4th metacarpal, Irregular ossification of hand bones, Polydactyly, Abnormal ster... OMIM:109400
Mucopolysaccharidosis, Type Iiid
Thickened ribs, Flexion contracture, Ovoid thoracolumbar vertebrae, Joint stiffness, Short neck OMIM:252940
Orofaciodigital Syndrome Iii
Postaxial hand polydactyly, Kyphosis, Pectus excavatum, Short sternum, Postaxial foot polydactyly OMIM:258850
Duane-Radial Ray Syndrome
Scoliosis, Hypoplasia of the radius, Aplasia of metacarpal bones, Preaxial polydactyly, Hypoplasi... OMIM:607323
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
Large iliac wing, Hip subluxation, Joint laxity, Flared iliac wing, Ovoid vertebral bodies, Metat... OMIM:271640
Cartilage-Hair Hypoplasia
Scoliosis, Accelerated skeletal maturation, Narrow chest, Abnormality of the metaphysis, Abnormal... ORPHA:175
Gm1-Gangliosidosis, Type I
Scoliosis, Thickened ribs, Beaking of vertebral bodies, Kyphosis, Joint stiffness, Short neck, Hy... OMIM:230500
Frontometaphyseal Dysplasia 2
Scoliosis, Dislocated radial head, Congenital hip dislocation, Pectus excavatum, Camptodactyly, H... OMIM:617137
Kenny-Caffey Syndrome, Type 1
Delayed closure of the anterior fontanelle, Thin clavicles, Thin ribs, Slender long bone, Small h... OMIM:244460
Radio-Renal Syndrome
Hypoplasia of the radius, Abnormal form of the vertebral bodies, Abnormality of the elbow, Abnorm... ORPHA:3015
Zttk Syndrome
Scoliosis, Joint hypermobility, Craniosynostosis, Kyphosis, Flexion contracture, Rib fusion, Hemi... OMIM:617140
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Hypoplasia of the radius, Lateral clavicle hook, Narrow chest, Thoracic hypoplasia, Hypoplastic i... OMIM:617895
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development
Thin ribs, Arthrogryposis multiplex congenita, Craniosynostosis, Brachydactyly OMIM:618265
Wolf-Hirschhorn Syndrome
Scoliosis, Hip dysplasia, Short hallux, Preaxial hand polydactyly, Radioulnar synostosis, Abnorma... OMIM:194190
Mosaic Trisomy 8
Scoliosis, Camptodactyly of finger, Arthrogryposis multiplex congenita, Narrow chest, Clinodactyl... ORPHA:96061
Campomelic Dysplasia
Hypoplastic cervical vertebrae, Poorly ossified cervical vertebrae, Thoracic hypoplasia, Hypoplas... OMIM:114290
Shwachman-Diamond Syndrome 1
Anterior rib cupping, Proximal femoral metaphyseal irregularity, Metaphyseal sclerosis, Metaphyse... OMIM:260400
Osteogenesis Imperfecta, Type Vii
Scoliosis, Wormian bones, Protrusio acetabuli, Narrow chest, Pectus excavatum, Decreased calvaria... OMIM:610682
Sternum, Premature Obliteration Of Sutures Of
Short sternum, Premature sternal synostosis OMIM:184800
Stuve-Wiedemann Syndrome
Scoliosis, Short phalanx of finger, Pathologic fracture, Elbow flexion contracture, Short neck, F... OMIM:601559
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe
Supraumbilical raphe, Bifid sternum OMIM:140850
Apert Syndrome
Cervical C5/C6 vertebrae fusion, Vertebral segmentation defect ORPHA:87
Occipital Horn Syndrome
Osteoporosis, Platyspondyly, Genu valgum, Limited elbow extension, Broad ribs, Narrow chest, Join... OMIM:304150
Lethal Congenital Contracture Syndrome 10
Overlapping fingers, Broad ribs, Narrow chest, Adducted thumb, Stiff neck, Short neck, Thoracic s... OMIM:617022
Apert Syndrome
Humeroradial synostosis, Synostosis of carpal bones, Delayed cranial suture closure, Coronal cran... OMIM:101200
Hemangiomatosis, Cutaneous, With Associated Features
Joint hyperflexibility, Joint laxity, Abnormality of the vertebral column, Abnormal vertebral mor... OMIM:234800
Skeletal Defects, Genital Hypoplasia, And Mental Retardation
Short femur, Hypoplasia of the ulna, Aplasia/Hypoplasia of the radius, Fibular hypoplasia, Absent... OMIM:612447
Otopalatodigital Syndrome Type 2
Scoliosis, Short hallux, Camptodactyly of finger, Tarsal synostosis, Narrow chest, Flared iliac w... ORPHA:90652
Renpenning Syndrome
Abnormal thumb morphology, Sprengel anomaly, Pectus excavatum, Joint stiffness, Abnormality of th... ORPHA:3242
Autosomal Dominant Popliteal Pterygium Syndrome
Scoliosis, Toe syndactyly, Finger syndactyly, Split hand, Joint stiffness, Abnormality of the rib... ORPHA:1300
Alagille Syndrome
Abnormal form of the vertebral bodies, Hypoplasia of the ulna, Short distal phalanx of finger, Cl... ORPHA:52
Lymphangiectasia, Intestinal
Prominent floating ribs OMIM:152800
Acrorenal-Mandibular Syndrome
Hypoplasia of the radius, Rudimentary fibula, Hand polydactyly, Toe syndactyly, Narrow chest, Spl... OMIM:200980
Short Rib-Polydactyly Syndrome
Abnormal ilium morphology, Abnormality of long bone morphology, Narrow chest, Polydactyly, Horizo... ORPHA:1505
Antley-Bixler Syndrome
Camptodactyly of finger, Craniosynostosis, Narrow chest, Elbow ankylosis, Recurrent fractures, De... ORPHA:83
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Bulging epiphyses, Enlargement of the ankles, Metaphyseal irregularity, Rickets, Hypophosphatemic... OMIM:241530
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Scoliosis, Postaxial hand polydactyly, Abnormality of the vertebral column, Abnormal vertebral mo... OMIM:308205
Schneckenbecken Dysplasia
Accelerated skeletal maturation, Lateral clavicle hook, Advanced tarsal ossification, Narrow ches... ORPHA:3144
Meier-Gorlin Syndrome 1
Absent glenoid fossa, Joint laxity, Elbow dislocation, Camptodactyly, Hemivertebrae, Osteochondri... OMIM:224690
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Contracture of the distal interphalangeal joint of the fingers, Fused cervical vertebrae, Thin ri... ORPHA:83617
Xylt1-Cdg
Accelerated skeletal maturation, Broad thumb, Broad ribs, Joint laxity, Short long bone, Clinodac... ORPHA:370930
Trisomy 13
Scoliosis, Postaxial hand polydactyly, Narrow chest, Kyphosis, Abnormality of the ribs, Abnormali... ORPHA:3378
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Bulging epiphyses, Enlargement of the ankles, Subperiosteal bone resorption, Metaphyseal irregula... OMIM:264700
Tetraamelia-Multiple Malformations Syndrome
Abnormality of the ribs, Abnormally ossified vertebrae, Aplasia/Hypoplasia involving the pelvis, ... ORPHA:3301
1P36 Deletion Syndrome
Scoliosis, Hip dysplasia, Camptodactyly of finger, Kyphosis, Rib fusion, Delayed cranial suture c... ORPHA:1606
Camptodactyly Syndrome, Guadalajara Type 3
Small hand, Spina bifida occulta, Short foot, Abnormality of the ribs, Osteopenia, Short neck, De... ORPHA:488434
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
Joint hypermobility, Abnormal bone ossification, Lumbar hemivertebrae, Thin metacarpal cortices, ... ORPHA:2463
Koolen-De Vries Syndrome
Scoliosis, Joint hyperflexibility, Kyphosis, Pectus excavatum, Vertebral fusion, Hip dislocation,... ORPHA:96169
Eiken Syndrome
Broad ribs, Delayed ossification of carpal bones, Broad metatarsal, Short middle phalanx of finge... OMIM:600002
Fibrous Dysplasia Of Bone
Scoliosis, Abnormal clavicle morphology, Abnormality of tibia morphology, Abnormality of femur mo... ORPHA:249
Ellis-Van Creveld Syndrome
Genu valgum, Postaxial hand polydactyly, Narrow chest, Pectus carinatum, Horizontal ribs, Hypopla... OMIM:225500
Kagami-Ogata Syndrome
Flexion contracture, Bell-shaped thorax, Thin ribs, Kyphoscoliosis, Long clavicles, Coxa valga, L... OMIM:608149
Vacterl/Vater Association
Preaxial hand polydactyly, Finger syndactyly, Aplasia/Hypoplasia of the radius, Abnormality of th... ORPHA:887
Hurler Syndrome
Scoliosis, Camptodactyly of finger, Abnormal clavicle morphology, Abnormal vertebral morphology, ... ORPHA:93473
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Aplastic pubic bones, Split hand, Hemivertebrae, Phocomelia, Short neck, Femoral bowing, Barrel-s... OMIM:276820
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Platyspondyly, Postaxial polysyndactyly of foot, Postaxial hand polydactyly, Preaxial hand polyda... OMIM:263520
Scarf Syndrome
Craniosynostosis, Abnormal form of the vertebral bodies, Pectus carinatum, Joint hyperflexibility... ORPHA:3134
Van Den Ende-Gupta Syndrome
Distal ulnar hypoplasia, Dislocated radial head, Lateral clavicle hook, Craniosynostosis, Camptod... OMIM:600920
Multiple Pterygium-Malignant Hyperthermia Syndrome
Scoliosis, Camptodactyly of finger, Arthrogryposis multiplex congenita, Finger syndactyly, Kyphos... ORPHA:2215
Cleidocranial Dysplasia
Scoliosis, Wormian bones, Narrow chest, Persistent open anterior fontanelle, Increased bone miner... OMIM:119600
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Postaxial hand polydactyly, Broad ribs, Abnormal sternum morphology, Short ribs, Abnormality of t... ORPHA:2519
Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome
Toe syndactyly, Finger syndactyly, Elbow dislocation, Aplasia/Hypoplasia of the phalanges of the ... ORPHA:1112
X-Linked Myotubular Myopathy-Abnormal Genitalia Syndrome
Thin ribs, Joint hypermobility ORPHA:456328
Schwartz-Jampel Syndrome
Scoliosis, Wormian bones, Arthrogryposis multiplex congenita, Elbow dislocation, Increased bone m... ORPHA:800
Lethal Congenital Contracture Syndrome 5
Thin ribs, Flexion contracture, Congenital contracture OMIM:615368
Faciodigitogenital Syndrome, Autosomal Recessive
Hyperextensible hand joints, Camptodactyly, Down-sloping shoulders, Pectus excavatum, Vertebral f... OMIM:227330
Shprintzen-Goldberg Craniosynostosis Syndrome
Scoliosis, Genu valgum, Dislocated radial head, C1-C2 vertebral abnormality, Lateral clavicle hoo... OMIM:182212
Scarf Syndrome
Short neck, Lambdoidal craniosynostosis, Abnormal form of the vertebral bodies, Pectus carinatum,... OMIM:312830
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Joint hypermobility, Hyperextensible hand joints, Sagittal craniosynostosis, Rib fusion, Hemivert... ORPHA:500150
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Thin ribs, Flexion contracture OMIM:614833
Gm1 Gangliosidosis Type 1
Platyspondyly, Broad long bone diaphyses, Flared iliac wing, Pectus carinatum, Beaking of vertebr... ORPHA:79255
Severe Congenital Nemaline Myopathy
Arthrogryposis multiplex congenita, Flexion contracture, Abnormal thorax morphology, Thin ribs, M... ORPHA:171430
Oculocerebrocutaneous Syndrome
Hand polydactyly, Congenital hip dislocation, Finger syndactyly, Short distal phalanx of finger, ... ORPHA:1647
Aspergillosis
Abnormality of the ribs, Osteomyelitis, Abnormality of long bone morphology, Abnormality of the v... ORPHA:1163
Osteogenesis Imperfecta
Scoliosis, Wormian bones, Abnormality of long bone morphology, Abnormality of tibia morphology, J... ORPHA:666
Hypocalcemic Vitamin D-Dependent Rickets
Enlargement of the ankles, Subperiosteal bone resorption, Rickets, Bone pain, Tibial bowing, Rach... ORPHA:289157
Monosomy 9Q22.3
Accelerated skeletal maturation, Abnormality of the vertebral column, Polydactyly, Joint hyperfle... ORPHA:77301
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Craniosynostosis, Broad thumb, Short metatarsal, Short phalanx of finger, Flared iliac wing, Spli... OMIM:609945
Weill-Marchesani Syndrome 1
Scoliosis, Broad ribs, Broad metatarsal, Lumbar hyperlordosis, Joint stiffness, Spinal canal sten... OMIM:277600
Pallister-Hall Syndrome
Radial bowing, Short 4th metacarpal, Oligodactyly, Postaxial hand polydactyly, Broad thumb, Toe s... ORPHA:672
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Scoliosis, Craniosynostosis, Tarsal synostosis, Narrow chest, Camptodactyly, Abnormality of the r... ORPHA:95699
Myhre Syndrome
Platyspondyly, Large iliac wing, Abnormality of epiphysis morphology, Abnormality of the pubic bo... ORPHA:2588
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Lateral clavicle hook, Hand polydactyly, Short phalanx of finger, Metaphyseal irregularity, Hypop... OMIM:208500
Orofaciodigital Syndrome Type 3
Postaxial hand polydactyly, Thoracic kyphosis, Pectus excavatum, Short sternum, Postaxial foot po... ORPHA:2752
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion
Prominent sternum, Flexion contracture of finger, Joint laxity, Overlapping toe, Thoracic hypopla... ORPHA:254528
Renal Dysplasia-Limb Defects Syndrome
Hypoplasia of the radius, Fibular aplasia, Short sternum, Aplasia of the ulna, Short metacarpal, ... OMIM:266910
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Lateral clavicle hook, Narrow chest, Decreased calvarial ossification, Preaxial polydactyly, Hori... OMIM:617925
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Cervical C2/C3 vertebral fusion, Wormian bones, Hip subluxation, Abnormal vertebral morphology ORPHA:444077
Myhre Syndrome
Platyspondyly, Broad ribs, Overlapping toe, Camptodactyly, 2-3 toe syndactyly, Hypoplastic iliac ... OMIM:139210
Kagami-Ogata Syndrome
Thoracic hypoplasia, Bell-shaped thorax, Coat hanger sign of ribs, Limitation of joint mobility, ... ORPHA:254519
Chromosome 1P36 Deletion Syndrome
Scoliosis, Hip dysplasia, Camptodactyly of finger, Delayed closure of the anterior fontanelle, Ca... OMIM:607872
Koolen-De Vries Syndrome
Scoliosis, Joint hypermobility, Kyphosis, Pectus excavatum, Spondylolisthesis, Sacral dimple, Ver... OMIM:610443
Cerebrocostomandibular Syndrome
Scoliosis, Congenital hip dislocation, Thoracic hypoplasia, Bell-shaped thorax, Short humerus, An... OMIM:117650
Trisomy 1Q
Camptodactyly of finger, Short thorax, Preaxial hand polydactyly, Toe syndactyly, Abnormality of ... ORPHA:261344
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
Coat hanger sign of ribs, Thoracic hypoplasia ORPHA:254534
Ulbright-Hodes Syndrome
Hypoplasia of the radius, Fibular aplasia, Humeroradial synostosis, Short sternum, Short humerus,... ORPHA:3404
Coffin-Lowry Syndrome
Scoliosis, Bifid sternum, Delayed closure of the anterior fontanelle, Pectus carinatum, Kyphosis,... OMIM:303600
Gracile Bone Dysplasia
Thin ribs, Slender long bone, Flared metaphysis, Decreased skull ossification, Brachydactyly OMIM:602361
Generalized Arterial Calcification Of Infancy
Stippled calcification of the elbow, Abnormality of the knee, Abnormal hip joint morphology, Hypo... ORPHA:51608
Acro-Renal-Ocular Syndrome
Short hallux, Radial club hand, Preaxial hand polydactyly, Abnormal thumb morphology, Toe syndact... ORPHA:959
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Scoliosis, Wormian bones, Absent glenoid fossa, Epiphyseal stippling, Narrow chest, Camptodactyly... ORPHA:96334
Short-Rib Thoracic Dysplasia 12
Short toe, Short thorax, Narrow chest, Hypoplastic scapulae, Short finger, Horizontal ribs, Short... OMIM:269860
Hallermann-Streiff Syndrome
Scoliosis, Hyperlordosis, Wormian bones, Joint hypermobility, Pectus excavatum, Thin ribs, Slende... OMIM:234100
Weill-Marchesani Syndrome 2
Scoliosis, Short metatarsal, Broad ribs, Broad metatarsal, Short finger, Flexion contracture of t... OMIM:608328
Lenz-Majewski Hyperostotic Dwarfism
Aplasia/Hypoplasia of the middle phalanges of the hand, Humeroradial synostosis, Broad ribs, Prox... OMIM:151050
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Squared iliac bones, Unicoronal synostosis, Narrow chest, Hypoplastic pelvis, Preaxial polydactyl... OMIM:616300
Schinzel-Giedion Midface Retraction Syndrome
Increased density of long bones, Wormian bones, Sacrococcygeal teratoma, Postaxial hand polydacty... OMIM:269150
Osteopathia Striata With Cranial Sclerosis
Scoliosis, Thoracolumbar kyphosis, Fibular aplasia, Delayed closure of the anterior fontanelle, B... OMIM:300373
Craniorachischisis
Bifid sternum ORPHA:63260
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Anterior rib cupping, Platyspondyly, Growth arrest lines, Abnormality of pelvic girdle bone morph... OMIM:102700
Waardenburg Syndrome, Type 1
Supernumerary ribs, Sprengel anomaly, Supernumerary vertebrae OMIM:193500
Simpson-Golabi-Behmel Syndrome
Scoliosis, Camptodactyly of finger, Short toe, Postaxial hand polydactyly, Broad thumb, Congenita... ORPHA:373
Vater/Vacterl Association
Scoliosis, Hypoplasia of the radius, Radioulnar synostosis, Abnormal vertebral morphology, Abnorm... OMIM:192350
Alpha-Mannosidosis, Infantile Form
Thickened ribs, Platyspondyly, Genu valgum, Craniosynostosis, Osteolysis, Joint laxity, Pectus ca... ORPHA:309282
Cerebrocostomandibular Syndrome
Posterior rib gap, Kyphosis, Clinodactyly of the 5th finger, Bell-shaped thorax ORPHA:1393
Monosomy 9P
Scoliosis, Postaxial hand polydactyly, Abnormality of the tarsal bones, Abnormality of the verteb... ORPHA:261112
Duane Retraction Syndrome
Abnormal form of the vertebral bodies, Camptodactyly, Abnormal vertebral segmentation and fusion,... ORPHA:233
Dextrocardia
Abnormality of the ribs, Congenital hip dislocation ORPHA:1666
Mucopolysaccharidosis Type 3
Scoliosis, Genu valgum, Hip dysplasia, Abnormal clavicle morphology, Abnormal form of the vertebr... ORPHA:581
Fetal Akinesia Deformation Sequence 1
Rocker bottom foot, Camptodactyly of finger, Arthrogryposis multiplex congenita, Thoracic hypopla... OMIM:208150
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Posterior rib fusion, Butterfly vertebrae OMIM:265380
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Postaxial hand polydactyly, Narrow chest, Horizontal ribs, Short ribs, Short long bone, Short cla... OMIM:617088
Ear-Patella-Short Stature Syndrome
Camptodactyly of finger, Craniosynostosis, Abnormality of epiphysis morphology, Elbow dislocation... ORPHA:2554
Charcot-Marie-Tooth Disease Type 4C
Scapular winging, Abnormality of the vertebral column, Vertebral fusion, Thoracic scoliosis, Ankl... ORPHA:99949
Autosomal Dominant Centronuclear Myopathy
Thin ribs ORPHA:169189
Hemifacial Microsomia
Vertebral hypoplasia, Block vertebrae, Hemivertebrae OMIM:164210
Smith-Lemli-Opitz Syndrome
Scoliosis, Postaxial hand polydactyly, Abnormal form of the vertebral bodies, Finger syndactyly, ... ORPHA:818
Cranioectodermal Dysplasia 2
Postaxial hand polydactyly, Craniosynostosis, Joint laxity, Narrow chest, Polydactyly, Pectus exc... OMIM:613610
Alagille Syndrome 1
Hypoplasia of the ulna, Short distal phalanx of finger, Hemivertebrae, Abnormality of the ribs, B... OMIM:118450
Autosomal Recessive Malignant Osteopetrosis
Craniosynostosis, Narrow chest, Abnormality of epiphysis morphology, Bowing of the long bones, Re... ORPHA:667
Trisomy 18
Camptodactyly of finger, Postaxial hand polydactyly, Abnormal hip bone morphology, Abnormality of... ORPHA:3380
Hereditary Acrokeratotic Poikiloderma
Camptodactyly of finger, Finger syndactyly, Joint hyperflexibility, Abnormality of the metacarpal... ORPHA:2907
Mucopolysaccharidosis Type 2, Severe Form
Hip dysplasia, Thickened ribs, Camptodactyly of finger, Abnormal vertebral morphology, Flexion co... ORPHA:217085
Mucopolysaccharidosis Type 2, Attenuated Form
Hip dysplasia, Thickened ribs, Camptodactyly of finger, Abnormal vertebral morphology, Flexion co... ORPHA:217093
Schinzel-Giedion Syndrome
Scoliosis, Overlapping fingers, Abnormal clavicle morphology, Sacrococcygeal teratoma, Wormian bo... ORPHA:798
Townes-Brocks Syndrome
Preaxial hand polydactyly, Broad thumb, Toe syndactyly, Abnormal vertebral morphology, Broad hall... ORPHA:857
Mandibuloacral Dysplasia Progeroid Syndrome
Genu valgum, Pectus excavatum, Flexion contracture, Osteopenia, Decreased fibular diameter, Sanda... OMIM:619127
Oculocerebrorenal Syndrome Of Lowe
Scoliosis, Platyspondyly, Genu valgum, Joint swelling, Abnormality of epiphysis morphology, Joint... ORPHA:534
Fryns Syndrome
Rocker bottom foot, Broad ribs, Thoracic hypoplasia, Camptodactyly, Short distal phalanx of finge... OMIM:229850
Coccidioidomycosis
Abnormality of long bone morphology, Osteolysis, Broad ribs, Abnormality of the vertebral column,... ORPHA:228123
Kindler Epidermolysis Bullosa
Short 4th metacarpal, Camptodactyly of finger, Finger syndactyly, Short 5th metacarpal, Flexion c... ORPHA:2908
Restrictive Dermopathy
Camptodactyly of finger, Arthrogryposis multiplex congenita, Thoracic kyphoscoliosis, Aplasia/Hyp... ORPHA:1662
Charge Syndrome
Scoliosis, Abnormality of tibia morphology, Hemivertebrae, Abnormality of bone mineral density, A... ORPHA:138
Osteopetrosis, Autosomal Recessive 7
Femur fracture, Osteopetrosis, Multiple rib fractures OMIM:612301
Wiedemann-Rautenstrauch Syndrome
Scoliosis, Delayed closure of the anterior fontanelle, Short femur, Hypoplastic ilia, Flexion con... OMIM:264090
Pagod Syndrome
Abnormality of the ribs, Abnormal clavicle morphology ORPHA:991
Charge Syndrome
Scoliosis, Hand polydactyly, Down-sloping shoulders, Hypoplasia of the ulna, Hemivertebrae, Absen... OMIM:214800

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.

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

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