Not currently registered for phenotyping at IMPC

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

Gene Summary

developmental pluripotency associated 4
ECAT15-1,  2410091M23Rik

IMPC Data Collections

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

IMPC Phenotype Summary

Not Significant
Not tested


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 Dppa4 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 Dppa4 by phenotypic similarity.

Disease Similarity of
Matching phenotypes Source
Ciliary Dyskinesia, Primary, 29
Recurrent respiratory infections, Atelectasis, Bronchiectasis, Infertility OMIM:615872
Neurogenic Thoracic Outlet Syndrome
Abnormal rib morphology ORPHA:100073
Mucus Inspissation Of Respiratory Tract
Recurrent respiratory infections, Atelectasis, Bronchiectasis OMIM:253240
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Finger syndactyly, Abnormality of the elbow, Abnormal rib morphology, Pectus carinatum, Radioulna... ORPHA:3268
Myotubular Myopathy With Abnormal Genital Development
Death in infancy, Unilateral cryptorchidism, Bilateral cryptorchidism, Atelectasis, Thin ribs, Ne... OMIM:300219
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly
Death in infancy, Lateral clavicle hook, Postaxial hand polydactyly, Postaxial foot polydactyly, ... OMIM:617405
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness
Atelectasis, Recurrent bronchitis OMIM:300455
Heart Defects-Limb Shortening Syndrome
Death in infancy, Abnormal rib morphology, Narrow chest, Abnormal metaphysis morphology, Abnormal... ORPHA:1354
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Recurrent respiratory infections, Atelectasis, Bronchiectasis OMIM:619466
Ciliary Dyskinesia, Primary, 33
Atelectasis, Recurrent pneumonia, Bronchiectasis, Recurrent lower respiratory tract infections, R... OMIM:616726
Jeune Syndrome
Abnormal clavicle morphology, Toe syndactyly, Postaxial hand polydactyly, Short thorax, Abnormal ... ORPHA:474
Ciliary Dyskinesia, Primary, 21
Atelectasis, Recurrent pneumonia, Bronchiectasis OMIM:615294
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome
Abnormal rib morphology ORPHA:2435
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Recurrent respiratory infections, Postaxial polydactyly, Lateral clavicle hook, Cryptorchidism, B... OMIM:615633
Spondylometaphyseal Dysplasia, Type A4
Brachydactyly, Coxa valga, Metaphyseal sclerosis, Enlargement of the costochondral junction, Meta... OMIM:609052
Asbestos Intoxication
Ground-glass opacification, Atelectasis, Pleural thickening, Abnormal pulmonary interstitial morp... ORPHA:2302
Thoracic Dysostosis, Isolated
Pectus excavatum, Recurrent respiratory infections, Short ribs, Bell-shaped thorax OMIM:187750
Bronchopulmonary Dysplasia
Atelectasis, Abnormal lung morphology, Emphysema, Pulmonary sequestration, Tracheobronchomalacia ORPHA:70589
Infant Acute Respiratory Distress Syndrome
Pneumonia, Respiratory tract infection, Atelectasis, Abnormal thorax morphology, Pulmonary edema ORPHA:70587
Metatropic Dysplasia
Camptodactyly of finger, Abnormal enchondral ossification, Joint stiffness, Abnormal rib morpholo... ORPHA:2635
C1Q Deficiency 2
Atelectasis, Recurrent lower respiratory tract infections, Bronchiectasis, Arthritis OMIM:620321
Waardenburg Syndrome Type 3
Camptodactyly of finger, Joint stiffness, Atelectasis, Abnormal finger morphology, Cutaneous fing... ORPHA:896
Acute Interstitial Pneumonia
Peribronchovascular interstitial thickening, Nodular pattern on pulmonary HRCT, Ground-glass opac... ORPHA:79126
Meconium Aspiration Syndrome
Abnormal pulmonary thoracic imaging finding, Atelectasis, Pneumothorax, Aspiration pneumonia, Int... ORPHA:70588
Kyphomelic Dysplasia
Bowing of the long bones, Anterior rib cupping, Missing ribs, Lateral clavicle hook, Joint stiffn... ORPHA:1801
Endosteal Hyperostosis, Worth Type
Craniofacial hyperostosis, Generalized osteosclerosis, Abnormal rib morphology, Clavicular sclero... ORPHA:2790
Plectin-Related Limb-Girdle Muscular Dystrophy R17
Atelectasis, Achilles tendon contracture, Decreased cervical spine flexion due to contractures of... ORPHA:254361
Short-Rib Thoracic Dysplasia 12
Short palm, Hypoplastic scapulae, Bowing of the legs, Atelectasis, Short toe, Short thorax, Short... OMIM:269860
Axial Spondylometaphyseal Dysplasia
Osteopenia, Thoracic scoliosis, Proximal femoral metaphyseal irregularity, Deformed rib cage, Cox... ORPHA:168549
Respiratory Distress Syndrome In Premature Infants
Atelectasis, Pulmonary edema OMIM:267450
Metatropic Dysplasia
Abnormal metaphyseal vascular invasion, Enlarged joints, Flexion contracture, Long coccyx, Halber... OMIM:156530
Spondylometaphyseal Dysplasia, Axial
Anterior rib cupping, Proximal femoral metaphyseal irregularity, Recurrent pneumonia, Coxa vara, ... OMIM:602271
Bowing of the long bones, Recurrent fractures, Craniosynostosis, Abnormal rib morphology, Narrow ... ORPHA:436
Primary Ciliary Dyskinesia
Male infertility, Recurrent sinopulmonary infections, Peribronchovascular interstitial thickening... ORPHA:244
Spondyloepimetaphyseal Dysplasia, Irapa Type
Short metacarpal, Osteoarthritis, Abnormal joint morphology, Short metatarsal, Abnormal rib morph... ORPHA:93351
Diastrophic Dysplasia
Joint dislocation, Recurrent respiratory infections, Abnormal clavicle morphology, Bowing of the ... ORPHA:628
Craniodiaphyseal Dysplasia
Craniofacial hyperostosis, Abnormal rib morphology, Diaphyseal thickening ORPHA:1513
Familial Nasal Acilia
Atelectasis, Recurrent upper respiratory tract infections, Bronchiectasis ORPHA:922
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Recurrent respiratory infections, Ground-glass opacification, Atelectasis, Pulmonary infiltrates,... OMIM:610978
Bronchogenic Cyst
Abnormal pulmonary thoracic imaging finding, Pulmonary cyst, Pneumonia, Abnormal pleura morpholog... ORPHA:2357
Microcephalic Primordial Dwarfism, Toriello Type
Recurrent respiratory infections, Abnormal rib morphology, Abnormal epiphysis morphology, Intraut... ORPHA:2643
Grant Syndrome
Joint dislocation, Bowing of the long bones, Abnormal cortical bone morphology, Abnormal rib morp... ORPHA:2097
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Superior rib anomalies, Male hypogonadism, Hypergonadotropic hypogonadism OMIM:307500
Farber Disease
Abnormality of the knee, Nodular pattern on pulmonary HRCT, Atelectasis, Short toe, Recurrent upp... ORPHA:333
Recurrent Respiratory Papillomatosis
Atelectasis, Abnormal lung morphology, Recurrent upper respiratory tract infections, Recurrent pn... ORPHA:60032
Idiopathic Chronic Eosinophilic Pneumonia
Abnormal pulmonary thoracic imaging finding, Atelectasis, Hypersensitivity pneumonitis, Parenchym... ORPHA:2902
Thin Ribs-Tubular Bones-Dysmorphism Syndrome
Slender long bone, Abnormal pelvic girdle bone morphology, Abnormal rib morphology, Intrauterine ... ORPHA:1506
Craniodiaphyseal Dysplasia, Autosomal Dominant
Craniofacial hyperostosis, Thickened ribs, Cortical sclerosis, Craniofacial osteosclerosis, Diaph... OMIM:122860
Autosomal Dominant Spondylocostal Dysostosis
Recurrent respiratory infections, Missing ribs, Short thorax, Abnormal rib morphology, Posterior ... ORPHA:1797
Lethal Congenital Contracture Syndrome Type 1
Recurrent fractures, Abnormality of the elbow, Abnormal rib morphology, Limitation of joint mobil... ORPHA:1486
Holt-Oram Syndrome
Abnormal clavicle morphology, Finger syndactyly, Down-sloping shoulders, Absent thumb, Pectus exc... ORPHA:392
Achondrogenesis, Type Ia
Abnormal femoral metaphysis morphology, Beaded ribs, Bowing of the legs, Abnormal hand bone ossif... OMIM:200600
Achondrogenesis Type 1B
Abnormal enchondral ossification, Short thorax, Abnormal rib morphology, Aplasia/Hypoplasia of th... ORPHA:93298
Mesomelic Dysplasia, Kantaputra Type
Camptodactyly of finger, Tarsal synostosis, Abnormality of the humerus, Abnormal rib morphology, ... ORPHA:1836
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Osteopenia, Multiple joint contractures, Metaphyseal widening, Multiple joint dislocation, Pectus... ORPHA:536467
Tracheobronchopathia Osteochondroplastica
Recurrent respiratory infections, Pneumonia, Bronchitis, Atelectasis, Recurrent pneumonia ORPHA:3348
Craniosynostosis, Herrmann-Opitz Type
Finger syndactyly, Craniosynostosis, Split hand, Abnormal rib morphology, Aplasia/Hypoplasia of t... ORPHA:2145
Spondylocostal Dysostosis 2, Autosomal Recessive
Recurrent respiratory infections, Rib fusion OMIM:608681
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Bowing of the long bones, Radial bowing, Abnormally ossified vertebrae, Abnormal rib morphology, ... ORPHA:3035
Thanatophoric Dysplasia, Type Ii
Small abnormally formed scapulae, Hypoplastic ilia, Wide-cupped costochondral junctions, Flared m... OMIM:187601
Achondrogenesis Type 1A
Multiple rib fractures, Recurrent fractures, Abnormal enchondral ossification, Short thorax, Apla... ORPHA:93299
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Radial bowing, Dumbbell-shaped long bone, Hypoplastic ischia, Hypoplastic ilia, Hypoplastic pubic... OMIM:151210
Osteogenesis Imperfecta, Type Ix
Recurrent fractures, Beaded ribs, Pectus excavatum, Multiple prenatal fractures, Pectus carinatum... OMIM:259440
Autosomal Dominant Hyper-Ige Syndrome
Osteopenia, Recurrent respiratory infections, Osteomyelitis, Recurrent fractures, Craniosynostosi... ORPHA:2314
Cutis Laxa-Marfanoid Syndrome
Arachnodactyly, Flexion contracture, Limitation of joint mobility, Hip dislocation, Emphysema ORPHA:171719
Thoracolaryngopelvic Dysplasia
Metaphyseal widening, Irregular chondrocostal junctions, Bell-shaped thorax, Narrow pelvis bone, ... OMIM:187760
Melnick-Needles Syndrome
Recurrent respiratory infections, Bowing of the long bones, Craniofacial hyperostosis, Coxa valga... ORPHA:2484
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies
Pectus excavatum, Hypoplastic distal segments of scapulae, Abnormal rib morphology, Joint hypermo... OMIM:602196
Fibrochondrogenesis 2
Hypoplastic ischia, Hypoplastic ilia, Cupped ribs, Metaphyseal widening, Hypoplastic pubic bone, ... OMIM:614524
Metaphyseal Chondrodysplasia, Schmid Type
Broad proximal phalanges of the hand, Bowing of the legs, Short tubular bones of the hand, Proxim... ORPHA:174
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Death in infancy, Proximal placement of thumb, Abnormal thumb morphology, Short thumb, Preaxial h... ORPHA:1120
Thanatophoric Dysplasia, Type I
Bowing of the long bones, Small abnormally formed scapulae, Hypoplastic ilia, Wide-cupped costoch... OMIM:187600
Spondylocostal Dysostosis 1, Autosomal Recessive
Recurrent respiratory infections, Vertebral fusion, Death in infancy, Block vertebrae, Rib fusion OMIM:277300
Ciliary Dyskinesia, Primary, 1
Male infertility, Pneumonia, Atelectasis, Bronchiectasis, Recurrent bronchitis OMIM:244400
Spondyloepimetaphyseal Dysplasia, Irapa Type
Metaphyseal dysplasia, Short metacarpal, Enlargement of the costochondral junction, Capitate-hama... OMIM:271650
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Abnormal clavicle morphology, Bowing of the long bones, Proximal placement of thumb, Abnormal rib... ORPHA:93267
Spondylometaphyseal Dysplasia, A4 Type
Limitation of joint mobility, Flared, irregular rib ends, Coxa vara, Short palm ORPHA:168555
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Recurrent fractures, Cryptorchidism, Abnormal rib morphology, Joint hyperflexibility, Decreased c... ORPHA:2772
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type
Dysplastic iliac wing, Metaphyseal spurs, Bowing of the legs, Pectus excavatum, Metaphyseal widen... OMIM:608728
Emphysema, Hereditary Pulmonary
Emphysema, Chronic bronchitis OMIM:130700
Lymphangiectasia, Intestinal
Stillbirth, Prominent floating ribs OMIM:152800
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Syndactyly, Thoracic hypoplasia, Postaxial polydactyly, Lateral clavicle hook, Hypoplastic ilia, ... OMIM:617895
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Ground-glass opacification, Respiratory tract infection, Hypersensitivity pneumonitis, Clubbing, ... ORPHA:79127
Holzgreve Syndrome
Abnormally ossified vertebrae, Abnormal morphology of ulna, Joint stiffness, Abnormal rib morphol... ORPHA:2167
Cat-Eye Syndrome
Intrauterine growth retardation, Hip dysplasia, Abnormal rib morphology ORPHA:195
Osteomyelitis, Pneumonia, Ground-glass opacification, Hypersensitivity pneumonitis, Abnormal rib ... ORPHA:1163
Surfactant Metabolism Dysfunction, Pulmonary, 3
Death in infancy, Nonspecific interstitial pneumonia, Crazy paving pattern, Nodular pattern on pu... OMIM:610921
Fibrochondrogenesis 1
Narrow greater sciatic notch, Short palm, Clinodactyly of the 5th finger, Widely patent sagittal ... OMIM:228520
Greenberg Dysplasia
Beaded ribs, Multiple prenatal fractures, Patchy variation in bone mineral density, Abnormal lung... OMIM:215140
Mosaic Trisomy 14
Camptodactyly of finger, Abnormal rib morphology, Narrow chest, Cryptorchidism ORPHA:1703
Cutis Laxa, Neonatal, With Marfanoid Phenotype
Emphysema, Arachnodactyly, Hip dislocation OMIM:614100
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Broad toe, Enlarged metacarpal epiphyses, Cupped ribs, Enlarged epiphyses of the phalanges of the... OMIM:609616
Schneckenbecken Dysplasia
Hypoplastic scapulae, Anterior rib cupping, Dumbbell-shaped long bone, Lateral clavicle hook, Sna... OMIM:269250
Autosomal Recessive Kenny-Caffey Syndrome
Stenosis of the medullary cavity of the long bones, Thin clavicles, Small hand, Thin ribs, Short ... ORPHA:93324
Cutis Laxa, Autosomal Recessive, Type Ic
Osteopenia, Death in infancy, Joint laxity, Sandal gap, Atelectasis, Recurrent pneumonia, Pulmona... OMIM:613177
Phaver Syndrome
Broad hallux phalanx, Camptodactyly of finger, Joint stiffness, Short thumb, Abnormal rib morphol... ORPHA:2876
Juberg-Hayward Syndrome
Toe syndactyly, Short thumb, Hypoplasia of the radius, Abnormal finger morphology, Abnormal rib m... ORPHA:2319
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Bulging epiphyses, Enlargement of the ankles, Thin bony cortex, Recurrent fractures, Bowing of th... OMIM:600081
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Osteopenia, Multiple rib fractures, Short femur, Fractured radius, Beaded ribs, Decreased fibular... OMIM:616897
Spondylocostal Dysostosis 3, Autosomal Recessive
Supernumerary vertebral ossification centers, Contracture of the proximal interphalangeal joint o... OMIM:609813
Poland Syndrome
Syndactyly, Unilateral oligodactyly, Rib fusion, Unilateral brachydactyly, Short ribs, Sprengel a... OMIM:173800
10Q22.3Q23.3 Microduplication Syndrome
Abnormal clavicle morphology, Abnormal rib morphology ORPHA:276422
Idiopathic Bronchiectasis
Respiratory tract infection, Emphysema, Clubbing, Bronchiectasis, Acute infectious pneumonia, Rec... ORPHA:60033
Osteogenesis Imperfecta, Type Ii
Crumpled long bones, Broad long bones, Recurrent fractures, Beaded ribs, Multiple prenatal fractu... OMIM:166210
Achondrogenesis, Type Ii
Barrel-shaped chest, Absent vertebral body mineralization, Broad long bones, Short tubular bones ... OMIM:200610
Femoral-Facial Syndrome
Short femur, Cryptorchidism, Rib fusion, Abnormal rib morphology, Coxa vara, Abnormal fibula morp... ORPHA:1988
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
11 pairs of ribs, Metaphyseal cupping of proximal phalanges, Thin ribs, Metaphyseal cupping of me... OMIM:300863
Sarcoidosis, Susceptibility To, 2
Pneumothorax, Clubbing, Bronchiectasis, Abnormal pulmonary interstitial morphology, Pulmonary inf... OMIM:612387
Dyggve-Melchior-Clausen Disease
Glenoid fossa hypoplasia, Coxa vara, Pectus carinatum, Broad ribs, Iliac crest serration, Horizon... ORPHA:239
Multiple Pterygium Syndrome, X-Linked
Joint dislocation, Vertebral fusion, Multiple pterygia, Flexion contracture, Thin ribs, Increased... OMIM:312150
Prune Belly Syndrome
Recurrent respiratory infections, Congenital hip dislocation, Pectus excavatum, Cryptorchidism, A... ORPHA:2970
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Recurrent respiratory infections, Arachnodactyly, Missing ribs, Abnormal rib morphology, Joint hy... ORPHA:2759
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome
Abnormal rib morphology, Decreased fertility, Hypogonadism, Abnormality of the humeroulnar joint,... ORPHA:2234
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea
Ground-glass opacification, Atelectasis, Abnormal pulmonary interstitial morphology, Bronchiectas... OMIM:620233
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome
Broad hallux phalanx, Toe syndactyly, Metatarsus valgus, Aplasia/Hypoplasia of toe, Cryptorchidis... ORPHA:3082
Spondyloepimetaphyseal Dysplasia, Strudwick Type
Brachydactyly, Club-shaped proximal femur, Anterior rib cupping, Clinodactyly, Hypoplastic pubic ... OMIM:184250
Kenny-Caffey Syndrome, Type 1
Long clavicles, Delayed closure of the anterior fontanelle, Thin clavicles, Small hand, Thin ribs... OMIM:244460
Genu recurvatum, Limited hip extension, Spatulate ribs, Delayed epiphyseal ossification, Metaphys... OMIM:177170
3M Syndrome
Hypoplasia of the ulna, Scapular winging, Congenital hip dislocation, Rocker bottom foot, Hypopla... ORPHA:2616
Multiple Pterygium Syndrome, Lethal Type
Joint dislocation, Vertebral fusion, Multiple pterygia, Flexion contracture, Thin ribs, Increased... OMIM:253290
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe
Bifid sternum, Supraumbilical raphe OMIM:140850
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness
Joint laxity, Metaphyseal dysplasia, Brachydactyly, Irregular iliac crest, Cupped ribs, Metaphyse... OMIM:250420
Osteogenesis Imperfecta, Type X
Osteopenia, Multiple rib fractures, Thoracic scoliosis, Short femur, Bowing of the long bones, Jo... OMIM:613848
Acro-Renal-Mandibular Syndrome
Abnormal clavicle morphology, Hypoplasia of the ulna, Hypoplastic scapulae, Finger syndactyly, Sp... ORPHA:958
Cleidocranial Dysplasia
Recurrent respiratory infections, Hypoplastic scapulae, Wormian bones, Down-sloping shoulders, Re... ORPHA:1452
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3
Joint laxity, Hypoplasia of the ulna, Tapered finger, Multiple joint dislocation, Hip dislocation... OMIM:618395
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2
Azoospermia, Abnormal rib morphology ORPHA:2578
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Short metacarpal, Joint stiffness, Cupped ribs, Metaphyseal widening, Coxa vara, Tibial bowing, F... OMIM:608940
White Forelock With Malformations
Finger syndactyly, Abnormal rib morphology, Joint hyperflexibility, Clinodactyly of the 5th finge... ORPHA:2475
Ossification Anomalies-Psychomotor Developmental Delay Syndrome
Abnormal thorax morphology, Metaphyseal widening, Thin ribs, Triangular shaped distal phalanges o... ORPHA:73230
Meier-Gorlin Syndrome 1
Genu recurvatum, Lateral clavicle hook, Flat glenoid fossa, Flexion contracture, Pectus carinatum... OMIM:224690
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Recurrent respiratory infections, Hypoplasia of the ulna, Death in infancy, Lateral clavicle hook... OMIM:208500
Isolated Klippel-Feil Syndrome
Abnormal rib morphology, Abnormal shoulder morphology, Cervical C2/C3 vertebral fusion, Sprengel ... ORPHA:2345
Dyggve-Melchior-Clausen Disease
Metaphyseal widening, Flat glenoid fossa, Short metatarsal, Pectus carinatum, Femoral bowing, Tib... OMIM:223800
Autosomal Recessive Spondylocostal Dysostosis
Rib segmentation abnormalities, Finger syndactyly, Camptodactyly of finger, Cryptorchidism, Short... ORPHA:2311
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Bulging epiphyses, Enlargement of the ankles, Thin bony cortex, Recurrent fractures, Bowing of th... OMIM:241530
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Osteopenia, Osteomyelitis, Periostitis, Osteolysis, Joint swelling, Fused cervical vertebrae, Pul... OMIM:612852
Acrocapitofemoral Dysplasia
Short proximal phalanx of thumb, Coxa vara, Pectus carinatum, Narrow chest, Short palm, Hypoplast... OMIM:607778
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Death in infancy, Hypoplastic iliac wing, Metaphyseal chondrodysplasia, Abnormality of the calcan... ORPHA:163966
Renpenning Syndrome
Joint stiffness, Pectus excavatum, Abnormal thumb morphology, Abnormal rib morphology, Clinodacty... ORPHA:3242
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Recurrent respiratory infections, Pectus excavatum, Atelectasis, Pulmonary fibrosis, Death in chi... OMIM:618278
Infantile-Onset X-Linked Spinal Muscular Atrophy
Hip contracture, Interphalangeal joint contracture of finger, Ankle flexion contracture, Cupped r... ORPHA:1145
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Abnormal clavicle morphology, Pectus excavatum, Abnormal rib morphology, Fused cervical vertebrae... ORPHA:2522
Spondyloepimetaphyseal Dysplasia, Missouri Type
Radial bowing, Ulnar bowing, Osteoarthritis, Flared metaphysis, Coxa vara, Tibial bowing, Femoral... OMIM:602111
Cooper-Jabs Syndrome
Camptodactyly of finger, Proximal placement of thumb, Missing ribs, Abnormal rib morphology, Redu... ORPHA:1488
Thoracic Outlet Syndrome
Abnormal rib morphology ORPHA:97330
Meier-Gorlin Syndrome 4
Genu recurvatum, Lateral clavicle hook, Cryptorchidism, Patellar aplasia, Slender long bone, Intr... OMIM:613804
Oculocerebrorenal Syndrome Of Lowe
Recurrent respiratory infections, Death in infancy, Osteomalacia, Recurrent fractures, Joint stif... ORPHA:534
Sprengel Deformity
Rib segmentation abnormalities, Sprengel anomaly OMIM:184400
Tetraamelia-Multiple Malformations Syndrome
Abnormally ossified vertebrae, Missing ribs, Cryptorchidism, Abnormal rib morphology, Abnormal lu... ORPHA:3301
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Atelectasis, Recurrent lower respiratory tract infections, Flexion contracture, Intercostal muscl... ORPHA:258
Trisomy 13
Cryptorchidism, Postaxial hand polydactyly, Abnormal rib morphology, Abnormal lung lobation, Abno... ORPHA:3378
Osteopenia, Sclerosis of hand bone, Sclerotic scapulae, Delayed closure of the anterior fontanell... OMIM:224300
Spondylocostal Dysostosis 5
Vertebral fusion, Missing ribs, Pectus carinatum, Posterior rib fusion, Supernumerary ribs OMIM:122600
Mucopolysaccharidosis, Type Iva
Joint laxity, Ulnar deviation of the wrist, Coxa valga, Epiphyseal deformities of tubular bones, ... OMIM:253000
Hypoplastic scapulae, Camptodactyly of finger, Abnormal rib morphology, Bell-shaped thorax, Abnor... ORPHA:2021
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy
Wormian bones, Anterior rib cupping, Metaphyseal widening, Flexion contracture, Coxa vara, Thin r... OMIM:300232
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Bulging epiphyses, Enlargement of the ankles, Thin bony cortex, Recurrent fractures, Bowing of th... OMIM:264700
Becker Nevus Syndrome
Pectus excavatum, Abnormal tibia morphology, Rib fusion, Pectus carinatum, Supernumerary ribs ORPHA:64755
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome
Craniofacial hyperostosis, Hypogonadotropic hypogonadism, Limitation of joint mobility, Abnormal ... ORPHA:3068
Osteogenesis Imperfecta, Type Xvi
Angulated humerus, Multiple rib fractures, Bowing of the long bones, Osteopenia, Recurrent fractu... OMIM:616229
Osteogenesis Imperfecta, Type Xv
Bowing of limbs due to multiple fractures, Recurrent fractures, Joint hypermobility, Thin ribs OMIM:615220
Recurrent respiratory infections, Atelectasis, Pneumothorax, Pulmonary infiltrates, Chylothorax, ... ORPHA:538
Severe Congenital Nemaline Myopathy
Multiple prenatal fractures, Abnormal thorax morphology, Flexion contracture, Thin ribs, Pulmonar... ORPHA:171430
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Postaxial polydactyly, Unicoronal synostosis, Cryptorchidism, Squared iliac bones, Preaxial polyd... OMIM:616300
Ciliary Dyskinesia, Primary, 20
Recurrent respiratory infections, Atelectasis, Pulmonary artery stenosis, Recurrent pneumonia, Br... OMIM:615067
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Azoospermia, Sprengel anomaly, Abnormal rib morphology OMIM:601076
Antley-Bixler Syndrome
Arachnodactyly, Camptodactyly of finger, Craniosynostosis, Recurrent fractures, Joint stiffness, ... ORPHA:83
Whim Syndrome
Pneumonia, Respiratory tract infection, Atelectasis, Recurrent upper respiratory tract infections... ORPHA:51636
X-Linked Hypophosphatemia
Bowing of the legs, Beaded ribs, Generalized osteosclerosis, Trapezoidal distal femoral condyles,... ORPHA:89936
Osteogenesis Imperfecta, Type Vii
Osteopenia, Multiple rib fractures, Crumpled long bones, Death in infancy, Wide cranial sutures, ... OMIM:610682
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development
Hypoplasia of the ulna, Short femur, Absent thumb, Cryptorchidism, Fibular hypoplasia, Aplasia/Hy... OMIM:612447
Osteogenesis Imperfecta, Type Iii
Protrusio acetabuli, Recurrent fractures, Severe generalized osteoporosis, Multiple prenatal frac... OMIM:259420
Lethal Congenital Contracture Syndrome 10
Thoracic scoliosis, Overlapping fingers, Stiff neck, Femoral bowing, Short long bone, Pulmonary h... OMIM:617022
Fanconi Renotubular Syndrome 5
Genu valgum, Pulmonary fibrosis, Hypophosphatemic rickets, Emphysema, Lung adenocarcinoma OMIM:618913
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Cryptorchidism, Postaxial hand polydactyly, Abnormal rib morphology, Abnormal sternum morphology,... ORPHA:2519
Mucopolysaccharidosis Type 4
Joint dislocation, Bowing of the long bones, Coxa valga, Short thorax, Abnormal rib morphology, P... ORPHA:582
Congenital Lobar Emphysema
Emphysema ORPHA:1928
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Osteopenia, Increased bone mineral density, Thin bony cortex, Coxa valga, Short tubular bones of ... ORPHA:85184
Mucopolysaccharidosis, Type Iiib
Thickened ribs, Recurrent upper respiratory tract infections, Dense calvaria, Joint stiffness OMIM:252920
Osteogenesis Imperfecta, Type Xviii
Joint laxity, Bowing of the long bones, Thin bony cortex, Recurrent fractures, Joint hypermobilit... OMIM:617952
Multiple Synostoses Syndrome 1
Symphalangism affecting the phalanges of the hand, Cutaneous finger syndactyly, Lower limb underg... OMIM:186500
Mucopolysaccharidosis, Type Ivb
Joint laxity, Ulnar deviation of the wrist, Coxa valga, Epiphyseal deformities of tubular bones, ... OMIM:253010
Cenani-Lenz Syndrome
Hypoplasia of the ulna, Finger syndactyly, Toe syndactyly, Elbow dislocation, Short thumb, Hypopl... ORPHA:3258
Granulomatous Disease, Chronic, X-Linked
Osteomyelitis, Atelectasis, Recurrent pneumonia, Air bronchogram, Pleural effusion OMIM:306400
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development
Craniosynostosis, Thin ribs, Slender long bone, Decreased calvarial ossification, Arthrogryposis ... OMIM:618265
Three M Syndrome 2
Scapular winging, Short thorax, Thin ribs, Pectus carinatum, Slender long bone, Short 5th finger,... OMIM:612921
Septopreoptic Holoprosencephaly
Abnormal rib morphology ORPHA:280195
Cole-Carpenter Syndrome
Crumpled long bones, Bowing of the long bones, Recurrent fractures, Abnormal rib morphology, Join... ORPHA:2050
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Sandal gap, Sprengel anomaly, Abnormal rib morphology, Brachydactyly ORPHA:2180
Atelectasis, Pneumothorax, Osteolysis, Pulmonary infiltrates, Acute infectious pneumonia, Air cre... ORPHA:73263
Lujo Hemorrhagic Fever
Atelectasis, Stiff neck ORPHA:319213
Campomelia, Cumming Type
Death in infancy, Bowing of the long bones, Abnormally ossified vertebrae, Abnormal thorax morpho... ORPHA:1318
Eiken Syndrome
Broad femoral neck, Delayed epiphyseal ossification, Long thumb, Flat acetabular roof, Fibular hy... OMIM:600002
Mucopolysaccharidosis, Type Iiia
Thickened ribs, Recurrent upper respiratory tract infections, Dense calvaria, Joint stiffness OMIM:252900
Birt-Hogg-Dubé Syndrome
Emphysema, Pneumothorax, Pulmonary sequestration ORPHA:122
22Q11.2 Deletion Syndrome
Arachnodactyly, Atelectasis, Abnormal thorax morphology, Cryptorchidism, Abnormal lung lobation, ... ORPHA:567
Hypocalcemic Vitamin D-Dependent Rickets
Enlargement of the ankles, Wide cranial sutures, Thin bony cortex, Osteomalacia, Irregular, rachi... ORPHA:289157
Bent Bone Dysplasia Syndrome 2
Osteopenia, Bowed humerus, Ulnar bowing, Femoral bowing, Thin ribs, Decreased calvarial ossificat... OMIM:620076
Axial Mesodermal Dysplasia Spectrum
Abnormality of the knee, Missing ribs, Abnormal rib morphology, Aplasia/Hypoplasia of the lungs, ... ORPHA:1834
Ellis-Van Creveld Syndrome
Capitate-hamate fusion, Postaxial hand polydactyly, Cryptorchidism, Pectus carinatum, Postaxial f... OMIM:225500
Osteogenesis Imperfecta, Type Viii
Barrel-shaped chest, Osteopenia, Short metacarpal, Radial bowing, Joint laxity, Recurrent fractur... OMIM:610915
Bare Lymphocyte Syndrome, Type I
Bronchiolitis, Emphysema, Bronchiectasis, Recurrent bronchitis OMIM:604571
Otopalatodigital Syndrome Type 2
Bowing of the long bones, Increased bone mineral density, Tarsal synostosis, Short hallux, Campto... ORPHA:90652
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Postaxial polydactyly, Lateral clavicle hook, Preaxial polydactyly, Hypoplastic pubic bone, Fibul... OMIM:617925
Stuve-Wiedemann Syndrome 1
Enlarged joints, Femoral bowing, Tibial bowing, Knee flexion contracture, Short tibia, Short phal... OMIM:601559
Mucolipidosis Iii Alpha/Beta
Soft tissue swelling of interphalangeal joints, Craniosynostosis, Irregular carpal bones, Split h... OMIM:252600
Congenital hip dislocation, Abnormal rib morphology, Abnormal lung lobation, Abnormal pulmonary s... ORPHA:1666
Cole-Carpenter Syndrome 2
Osteopenia, Wide cranial sutures, Recurrent fractures, Pectus excavatum, Thin ribs, Lambdoidal cr... OMIM:616294
Fibrous Dysplasia Of Bone
Abnormal clavicle morphology, Abnormal morphology of the radius, Bowing of the long bones, Abnorm... ORPHA:249
Kyphomelic Dysplasia
Short humerus, Short metacarpal, Radial bowing, Short femur, Anterior rib cupping, Bowed humerus,... OMIM:211350
Multiple Pterygium Syndrome, Escobar Variant
Multiple joint contractures, Flexion contracture, Knee flexion contracture, Intercrural pterygium... OMIM:265000
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Hypoplastic pubic ramus, Proximal placement of thumb, Short metatarsal, Patellar hypoplasia, Hand... OMIM:609945
Joint dislocation, Joint laxity, Coxa valga, Flared metaphysis, Short long bone, Short femoral ne... ORPHA:370930
Craniofacial hyperostosis, Abnormal intramembranous ossification, Hypoplastic ischia, Short iliac... ORPHA:3003
Chand Syndrome
Atelectasis, Short fifth metatarsal ORPHA:1401
Kagami-Ogata Syndrome
Long clavicles, Coxa valga, Long fingers, Flexion contracture, Thin ribs, Bell-shaped thorax, Pul... OMIM:608149
Klippel-Feil Syndrome 1, Autosomal Dominant
Cervical C2/C3 vertebral fusion, Sprengel anomaly, Abnormal vertebral segmentation and fusion, Ab... OMIM:118100
Spondylometaphyseal Dysplasia, Algerian Type
Metaphyseal dysplasia, Bowed humerus, Anterior rib cupping, Short tubular bones of the hand, Tibi... OMIM:184253
Lethal Congenital Contracture Syndrome 5
Death in infancy, Congenital contracture, Flexion contracture, Thin ribs OMIM:615368
Oculocerebrocutaneous Syndrome
Finger syndactyly, Congenital hip dislocation, Aplasia/Hypoplasia of the distal phalanges of the ... ORPHA:1647
Autosomal Recessive Multiple Pterygium Syndrome
Finger syndactyly, Camptodactyly of finger, Multiple pterygia, Pectus excavatum, Cryptorchidism, ... ORPHA:2990
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Hypoplasia of the ulna, Thoracic hypoplasia, Metaphyseal spurs, Postaxial polydactyly, Lateral cl... OMIM:613091
Craniometadiaphyseal Dysplasia
Osteopenia, Broad long bones, Coxa valga, Cubitus valgus, Flared metaphysis, Genu valgum, Scleros... OMIM:269300
Frontometaphyseal Dysplasia 1
Limited elbow movement, Knee flexion contracture, Increased density of long bone diaphyses, Wrist... OMIM:305620
Spondylometaphyseal Dysplasia, Sedaghatian Type
Delayed epiphyseal ossification, Long fibula, Narrow chest, Narrow greater sciatic notch, Short p... OMIM:250220
Radio-Renal Syndrome
Hypoplasia of the radius, Abnormal rib morphology, Abnormality of the elbow, Chylothorax, Short p... ORPHA:3015
Glycogen Storage Disease Due To Acid Maltase Deficiency
Respiratory tract infection, Atelectasis, Flexion contracture, Osteoporosis ORPHA:365
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type
Bowing of the legs, Pectus carinatum, Abnormal calcification of the carpal bones, Triangular shap... OMIM:271665
Van Den Ende-Gupta Syndrome
Glenoid fossa hypoplasia, Lateral clavicle hook, 2-3 toe cutaneous syndactyly, Femoral bowing, Kn... OMIM:600920
Gracile Bone Dysplasia
Death in infancy, Flared metaphysis, Thin ribs, Slender long bone, Decreased skull ossification, ... OMIM:602361
Mucopolysaccharidosis Type 6
Epiphyseal dysplasia, Joint stiffness, Recurrent upper respiratory tract infections, Genu valgum,... ORPHA:583
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
Metaphyseal widening, Delayed proximal femoral epiphyseal ossification, Flexion contracture, Flar... OMIM:271640
X-Linked Myotubular Myopathy-Abnormal Genitalia Syndrome
Cryptorchidism, Joint hypermobility, Thin ribs ORPHA:456328
Acrorenal-Mandibular Syndrome
Hypoplasia of the ulna, Hypoplastic scapulae, Toe syndactyly, Missing ribs, Split hand, Hypoplasi... OMIM:200980
Vacterl/Vater Association
Finger syndactyly, Preaxial hand polydactyly, Cryptorchidism, Abnormal rib morphology, Aplasia/Hy... ORPHA:887
Congenital Myopathy 22B, Severe Fetal
Hip contracture, Scapular winging, Thoracic scoliosis, Tapered toe, Shoulder flexion contracture,... OMIM:620369
Poland Syndrome
Aplasia/Hypoplasia of the thumb, Pectus carinatum, Reduced bone mineral density, Abnormal sternum... ORPHA:2911
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Lateral clavicle hook, Preaxial hand polydactyly, Postaxial hand polydactyly, Pectus carinatum, D... OMIM:263520
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Flexion contracture, Femoral bowing, Narrow chest, Abnormality of the wrist, Elbow ankylosis, Sho... ORPHA:95699
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion
Long toe, Joint laxity, Overlapping toe, Pectus excavatum, Flexion contracture, Prominent sternum... ORPHA:254528
Alpha-1-Antitrypsin Deficiency
Emphysema ORPHA:60
Mucopolysaccharidosis, Type Iiic
Thickened ribs, Recurrent upper respiratory tract infections, Dense calvaria, Joint stiffness OMIM:252930
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly
Joint dislocation, Femoral bowing, Knee flexion contracture, Short 5th metacarpal, Radial bowing,... OMIM:618019
Sclerosteosis 1
Syndactyly, Sclerotic scapulae, Broad clavicles, 2-3 finger syndactyly, Irregular menstruation, F... OMIM:269500
Hyperparathyroidism, Transient Neonatal
Osteopenia, Wide cranial sutures, Short femur, Metaphyseal spurs, Recurrent fractures, Undulate r... OMIM:618188
Congenital Disorder Of Glycosylation, Type Iig
Osteopenia, Thoracic scoliosis, Cryptorchidism, Squared iliac bones, Rib fusion, Posterior rib ga... OMIM:611209
Laryngotracheoesophageal Cleft Type 4
Abnormal rib morphology ORPHA:93941
Alagille Syndrome
Hypoplasia of the ulna, Cryptorchidism, Abnormal rib morphology, Clinodactyly of the 5th finger, ... ORPHA:52
Cartilage-Hair Hypoplasia
Metaphyseal chondrodysplasia, Pectus carinatum, Tibial bowing, Narrow chest, Abnormal bone ossifi... ORPHA:175
Hurler Syndrome
Recurrent respiratory infections, Abnormal clavicle morphology, Death in infancy, Camptodactyly o... ORPHA:93473
Pallister-Hall Syndrome
Syndactyly, Mesoaxial foot polydactyly, Toe syndactyly, Mesoaxial hand polydactyly, Cryptorchidis... OMIM:146510
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Ivory epiphyses, Short metacarpal, Bowing of the long bones, Metaphyseal spurs, Bowing of the leg... ORPHA:85167
Trisomy 1Q
Toe syndactyly, Arachnodactyly, Camptodactyly of finger, Preaxial hand polydactyly, Cryptorchidis... ORPHA:261344
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Vertebral fusion, Block vertebrae, Missing ribs, Rib fusion, Thin ribs, Short ribs, Pulmonary hyp... OMIM:271520
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Flexion contracture, Tibial bowing, Narrow chest, Hypoplastic iliac wing, Small proximal tibial e... ORPHA:96334
Shprintzen-Goldberg Craniosynostosis Syndrome
Osteopenia, Joint laxity, Arachnodactyly, Genu recurvatum, Craniosynostosis, Lateral clavicle hoo... OMIM:182212
Osteopetrosis, Autosomal Recessive 7
Multiple rib fractures, Death in infancy, Abnormal trabecular bone morphology, Femur fracture, Re... OMIM:612301
Cutis Laxa, Autosomal Recessive, Type Ia
Joint laxity, Recurrent respiratory infections, Arachnodactyly, Pectus excavatum, Emphysema OMIM:219100
Relapsing Polychondritis
Atelectasis, Limitation of joint mobility, Arthritis ORPHA:728
Autosomal Dominant Centronuclear Myopathy
Cryptorchidism, Miscarriage, Thin ribs ORPHA:169189
Spondylocostal Dysostosis 4, Autosomal Recessive
Vertebral fusion, Block vertebrae, Missing ribs, Pectus excavatum, Short thorax, Rib fusion, Bell... OMIM:613686
Multiple Pterygium-Malignant Hyperthermia Syndrome
Finger syndactyly, Prominent metopic ridge, Arachnodactyly, Camptodactyly of finger, Tapered fing... ORPHA:2215
Schwartz-Jampel Syndrome
Coxa vara, Pectus carinatum, Wrist flexion contracture, Death in infancy, Increased bone mineral ... ORPHA:800
Familial Osteodysplasia, Anderson Type
Recurrent fractures, Aplastic clavicle, Missing ribs, Elbow dislocation, Abnormal rib morphology,... ORPHA:2769
Osteogenesis Imperfecta
Osteopenia, Abnormal tibia morphology, Osteoarthritis, Flexion contracture, Abnormal femur morpho... ORPHA:666
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Bell-shaped thorax, Cryptorchidism, Horizontal ribs OMIM:614857
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7
Osteopenia, Cryptorchidism, Emphysema, Pulmonary fibrosis OMIM:620365
Pagod Syndrome
Abnormal clavicle morphology, Death in infancy, Abnormal rib morphology, Pulmonary artery hypopla... ORPHA:991
Mosaic Trisomy 8
Camptodactyly of finger, Cryptorchidism, Patellar aplasia, Abnormal rib morphology, Limitation of... ORPHA:96061
Fetal Akinesia Deformation Sequence 1
Hip contracture, Rocker bottom foot, Camptodactyly of finger, Elbow contracture, Cryptorchidism, ... OMIM:208150
Spondylometaphyseal Dysplasia, Sedaghatian Type
Short metacarpal, Abnormal scapula morphology, Iliac crest serration, Metaphyseal chondrodysplasi... ORPHA:93317
Mucopolysaccharidosis, Type X
Irregular acetabular roof, Spatulate ribs, Broad clavicles, Genu valgum, Hip dysplasia, Broad ribs OMIM:619698
Epidermodysplasia Verruciformis, Susceptibility To, 4
Emphysema OMIM:618307
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Flexion contracture, Thin ribs OMIM:614833
Campomelic Dysplasia
Thoracic scoliosis, Anterior tibial bowing, Delayed epiphyseal ossification, Patellar hypoplasia,... OMIM:114290
Ulbright-Hodes Syndrome
Short humerus, Short metacarpal, Cryptorchidism, Pneumothorax, Abnormal rib morphology, Humerorad... ORPHA:3404
Pseudo-Torch Syndrome 2
Pleural effusion, Thin ribs OMIM:617397
Ellis Van Creveld Syndrome
Cubitus valgus, Capitate-hamate fusion, Cryptorchidism, Short thorax, Genu valgum, Aplasia/Hypopl... ORPHA:289
Autosomal Dominant Popliteal Pterygium Syndrome
Finger syndactyly, Toe syndactyly, Joint stiffness, Cryptorchidism, Split hand, Abnormal rib morp... ORPHA:1300
Mucopolysaccharidosis, Type Vi
Epiphyseal dysplasia, Pneumonia, Joint stiffness, Metaphyseal widening, Recurrent upper respirato... OMIM:253200
Brachytelephalangic Chondrodysplasia Punctata
Recurrent respiratory infections, Calcaneal epiphyseal stippling, Abnormal ossification involving... ORPHA:79345
Myhre Syndrome
Craniofacial hyperostosis, Brachydactyly, Joint stiffness, Cryptorchidism, Abnormal rib morpholog... ORPHA:2588
Spondyloepimetaphyseal Dysplasia, X-Linked
Pectus carinatum, Long fibula, Short palm, Short phalanx of finger, Broad metacarpals, Genu varum... OMIM:300106
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Pectus carinatum, Femoral bowing, Foot oligodactyly, Aplasia/Hypoplasia of the tarsal bones, Phoc... OMIM:276820
Autosomal Recessive Malignant Osteopetrosis
Recurrent respiratory infections, Bowing of the long bones, Recurrent fractures, Craniosynostosis... ORPHA:667
Occipital Horn Syndrome
Joint laxity, Short humerus, Persistent open anterior fontanelle, Pelvic bone exostoses, Broad cl... OMIM:304150
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
Coat hanger sign of ribs, Thoracic hypoplasia ORPHA:254534
Cantú Syndrome
Finger syndactyly, Broad hallux phalanx, Short hallux, Coxa valga, Osteoporosis, Narrow chest, Br... ORPHA:1517
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
Osteopenia, Arachnodactyly, Joint hypermobility, Pectus excavatum, Thin metatarsal cortices, Thin... ORPHA:2463
Premature Aging Syndrome, Penttinen Type
Brachydactyly, Recurrent fractures, Hyperextensibility of the knee, Osteoporosis, Tibial bowing, ... OMIM:601812
Keutel Syndrome
Miscarriage, Recurrent bronchitis, Short hallux, Costal cartilage calcification, Premature fusion... OMIM:245150
Gm1-Gangliosidosis, Type I
Death in infancy, Thickened ribs, Joint stiffness, Intrauterine growth retardation OMIM:230500
Nestor-Guillermo Progeria Syndrome
Wide cranial sutures, Limited elbow movement, Delayed closure of the anterior fontanelle, Joint s... OMIM:614008
Lenz-Majewski Hyperostotic Dwarfism
Joint laxity, Syndactyly, Hyperextensibility of the finger joints, Broad clavicles, Aplasia/Hypop... OMIM:151050
Basal Cell Nevus Syndrome 1
Short distal phalanx of the thumb, Vertebral fusion, Down-sloping shoulders, Irregular ossificati... OMIM:109400
Autosomal Recessive Robinow Syndrome
Recurrent respiratory infections, Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Brachy... ORPHA:1507
Hallermann-Streiff Syndrome
Recurrent respiratory infections, Tracheomalacia, Pectus excavatum, Cryptorchidism, Metaphyseal w... OMIM:234100
Alpha-Mannosidosis, Infantile Form
Osteopenia, Joint laxity, Thickened ribs, Pneumonia, Craniosynostosis, Joint stiffness, Pectus ex... ORPHA:309282
Bifid sternum ORPHA:63260
Fryns Syndrome
Rocker bottom foot, Proximal placement of thumb, Short thumb, Cryptorchidism, Thin ribs, Stillbir... OMIM:229850
Digeorge Syndrome
Atelectasis, Recurrent pneumonia, Hydrocele testis, Patellar dislocation, Recurrent sinusitis, In... OMIM:188400
Ehlers-Danlos Syndrome, Vascular Type
Pulmonary bulla, Recurrent intrapulmonary hemorrhage, Spontaneous pneumothorax, Repeated pneumoth... OMIM:130050
Mucopolysaccharidosis Type 3
Recurrent sinopulmonary infections, Abnormal clavicle morphology, Craniofacial hyperostosis, Join... ORPHA:581
Ear-Patella-Short Stature Syndrome
Camptodactyly of finger, Aplastic clavicle, Craniosynostosis, Elbow dislocation, Cryptorchidism, ... ORPHA:2554
Robinow Syndrome, Autosomal Recessive 1
Short palm, Duplication of the distal phalanx of hand, Dislocated radial head, Joint laxity, Vert... OMIM:268310
Cerebrofaciothoracic Dysplasia
Sprengel anomaly, Rib fusion, Narrow chest, Bifid ribs ORPHA:1394
Neonatal Marfan Syndrome
Long toe, Arachnodactyly, Long fingers, Flexion contracture, Pectus carinatum, Enlarged thorax, E... ORPHA:284979
Kbg Syndrome
Syndactyly, Vertebral fusion, Cryptorchidism, Rib fusion, Cutaneous syndactyly, Cervical ribs, Th... OMIM:148050
Schinzel-Giedion Midface Retraction Syndrome
Long clavicles, Increased density of long bones, Wide distal femoral metaphysis, Postaxial hand p... OMIM:269150
Mucopolysaccharidosis, Type Iiid
Epiphyseal dysplasia, Thoracic scoliosis, Thickened ribs, Joint stiffness, Achilles tendon contra... OMIM:252940
Cerebrocostomandibular Syndrome
Rib gap, 10 pairs of ribs, 11 pairs of ribs, Congenital hip dislocation, Anomalous rib insertion ... OMIM:117650
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
Hyperextensibility of the finger joints, Vertebral fusion, Overlapping toe, Craniosynostosis, Pec... OMIM:213980
T-Cell Immunodeficiency With Thymic Aplasia
Recurrent bronchopulmonary infections, Emphysema, Recurrent pneumonia, Bronchiectasis OMIM:242700
Osteomyelitis, Pneumonia, Osteolysis, Pulmonary infiltrates, Abnormal long bone morphology, Arthr... ORPHA:228123
Wolf-Hirschhorn Syndrome
Rib segmentation abnormalities, Recurrent respiratory infections, Hypoplastic pubic ramus, Arachn... ORPHA:280
Trisomy 18
Camptodactyly of finger, Cryptorchidism, Postaxial hand polydactyly, Abnormal rib morphology, Dev... ORPHA:3380
Osteopathia Striata With Cranial Sclerosis
Arachnodactyly, Delayed closure of the anterior fontanelle, Tracheomalacia, Pectus excavatum, Ost... OMIM:300373
Smith-Lemli-Opitz Syndrome
Finger syndactyly, Proximal placement of thumb, Cryptorchidism, Postaxial hand polydactyly, Split... ORPHA:818
Camptodactyly Syndrome, Guadalajara Type 3
Osteopenia, Abnormal rib morphology, Small hand, Short foot, Thickened cortex of long bones, Broa... ORPHA:488434
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1
Joint dislocation, Osteopenia, Joint laxity, Congenital hip dislocation, Arachnodactyly, Protrusi... OMIM:225400
Mandibuloacral Dysplasia Progeroid Syndrome
Osteopenia, Sandal gap, Delayed cranial suture closure, Decreased fibular diameter, Pectus excava... OMIM:619127
Weill-Marchesani Syndrome 1
Thin bony cortex, Joint stiffness, Broad phalanges of the hand, Broad ribs, Broad metacarpals, Br... OMIM:277600
Proximal 16P11.2 Microdeletion Syndrome
Hand polydactyly, Rib fusion, Craniosynostosis ORPHA:261197
Femoral-Facial Syndrome
Short third metatarsal, Short humerus, Short fourth metatarsal, Toe syndactyly, Short fifth metat... OMIM:134780
Monosomy 9Q22.3
Pectus excavatum, Abnormal rib morphology, Joint hyperflexibility, Polydactyly, Metopic synostosis ORPHA:77301
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome
Tapered toe, Tapered finger, Bilateral cryptorchidism, Rib fusion, Clinodactyly of the 5th finger ORPHA:544488
Pontine Tegmental Cap Dysplasia
Ankle clonus, Rib fusion OMIM:614688
Simpson-Golabi-Behmel Syndrome
Finger syndactyly, Death in infancy, Congenital hip dislocation, Toe syndactyly, Camptodactyly of... ORPHA:373
Autosomal Recessive Cutis Laxa Type 1
Joint laxity, Delayed cranial suture closure, Pneumothorax, Hip dislocation, Recurrent pneumonia,... ORPHA:90349
Restrictive Dermopathy
Osteopenia, Thoracic kyphoscoliosis, Aplasia/Hypoplasia of the clavicles, Multiple joint contract... ORPHA:1662
Myhre Syndrome
Vertebral fusion, Overlapping toe, Joint stiffness, Cryptorchidism, Short toe, Limitation of join... OMIM:139210
Aicardi Syndrome
Block vertebrae, Proximal placement of thumb, Missing ribs, Recurrent pneumonia, Rib fusion, Supe... OMIM:304050
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Postaxial polydactyly, Postaxial hand polydactyly, Aplasia of the epiglottis, Cone-shaped epiphys... OMIM:617088
Sarcoidosis, Susceptibility To, 1
Emphysema, Clubbing, Bronchiectasis, Abnormal pulmonary interstitial morphology, Pulmonary infilt... OMIM:181000
Coffin-Lowry Syndrome
Hyperextensibility of the finger joints, Short metacarpal, Delayed closure of the anterior fontan... OMIM:303600
Weill-Marchesani Syndrome 2
Short metacarpal, Thin bony cortex, Joint stiffness, Short metatarsal, Elbow flexion contracture,... OMIM:608328
Hereditary Acrokeratotic Poikiloderma
Finger syndactyly, Camptodactyly of finger, Abnormal rib morphology, Joint hyperflexibility, Abno... ORPHA:2907
Kagami-Ogata Syndrome
Coxa valga, Limitation of joint mobility, Bell-shaped thorax, Coat hanger sign of ribs, Thoracic ... ORPHA:254519
Microphthalmia, Syndromic 3
Vertebral fusion, Hypogonadotropic hypogonadism, Missing ribs, Cryptorchidism, Rib fusion, Supern... OMIM:206900
Cranioectodermal Dysplasia 2
Joint laxity, Syndactyly, Craniosynostosis, Pectus excavatum, Postaxial hand polydactyly, Recurre... OMIM:613610
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Long clavicles, Overlapping toe, Arachnodactyly, Contracture of the distal interphalangeal joint ... ORPHA:83617
Aicardi Syndrome
Block vertebrae, Missing ribs, Small hand, Rib fusion, Hip dysplasia, Supernumerary ribs, Bifid ribs ORPHA:50
Schinzel-Giedion Syndrome
Abnormal clavicle morphology, Overlapping fingers, Overlapping toe, Streak ovary, Abnormal thorax... ORPHA:798
Craniotubular Dysplasia, Ikegawa Type
Metaphyseal dysplasia, Thin bony cortex, Broad ischia, Diaphyseal dysplasia, Sclerosis of skull b... OMIM:619727
Zttk Syndrome
Unilateral lung agenesis, Craniosynostosis, Flexion contracture, Rib fusion, Small hand, Short fo... OMIM:617140
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies
Tapered finger, Hip dislocation, Genu valgum, Hip dysplasia, Broad ribs, Broad long bone diaphyse... OMIM:301066
Baller-Gerold Syndrome
Limited elbow movement, Patellar hypoplasia, Hypoplasia of the ulna, Sagittal craniosynostosis, A... OMIM:218600
Monosomy 9P
Proximal placement of thumb, Abnormality of the tarsal bones, Cryptorchidism, Postaxial hand poly... ORPHA:261112
Vater/Vacterl Association
Syndactyly, Absent radius, Short thumb, Hypoplasia of the radius, Preaxial polydactyly, Abnormal ... OMIM:192350
Pallister-Hall Syndrome
Abnormal lung lobation, Mesoaxial polydactyly, Radial bowing, Cryptorchidism, Rib fusion, Polydac... ORPHA:672
Kindler Epidermolysis Bullosa
Finger syndactyly, Camptodactyly of finger, Flexion contracture, Abnormal rib morphology, Short 4... ORPHA:2908
Wiedemann-Rautenstrauch Syndrome
Long toe, Recurrent respiratory infections, Short humerus, Short femur, Pneumonia, Delayed closur... OMIM:264090
Wolf-Hirschhorn Syndrome
Rib segmentation abnormalities, Vertebral fusion, Pseudoepiphyses of the metacarpals, Short hallu... OMIM:194190
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Unilateral lung agenesis, Arachnodactyly, Sagittal craniosynostosis, Absent thumb, Rib fusion, Hy... ORPHA:500150
Cardiospondylocarpofacial Syndrome
Joint laxity, Tarsal synostosis, Rib fusion, Cone-shaped epiphysis, Short foot, Pseudoepiphyses, ... OMIM:157800
Alagille Syndrome 1
Hypoplasia of the ulna, Abnormal rib morphology, Peripheral pulmonary artery stenosis, Short dist... OMIM:118450
Charge Syndrome
Hypogonadotropic hypogonadism, Cryptorchidism, Abnormal tibia morphology, Abnormal rib morphology... ORPHA:138
Mucopolysaccharidosis Type 2, Severe Form
Thickened ribs, Camptodactyly of finger, Recurrent upper respiratory tract infections, Flexion co... ORPHA:217085
Mucopolysaccharidosis Type 2, Attenuated Form
Thickened ribs, Camptodactyly of finger, Recurrent upper respiratory tract infections, Flexion co... ORPHA:217093
Robinow Syndrome
Fused thoracic vertebrae, Syndactyly, Brachydactyly, Bifid distal phalanx of the thumb, Missing r... ORPHA:97360
Osteopenia, Coxa valga, Rib fusion, Posterior rib gap, Flat acetabular roof, Short long bone ORPHA:263508
1P36 Deletion Syndrome
11 pairs of ribs, Camptodactyly of finger, Joint stiffness, Cryptorchidism, Rib fusion, Short foo... ORPHA:1606
Chromosome 1P36 Deletion Syndrome, Distal
11 pairs of ribs, Camptodactyly of finger, Delayed closure of the anterior fontanelle, Metatarsus... OMIM:607872
Charge Syndrome
Hypoplasia of the ulna, Hypogonadotropic hypogonadism, Down-sloping shoulders, Absent radius, Sho... OMIM:214800
Osteopetrosis With Renal Tubular Acidosis
Pectus excavatum, Osteopetrosis, Prominent floating ribs, Recurrent fractures ORPHA:2785
Townes-Brocks Syndrome
Broad hallux phalanx, Toe syndactyly, Preaxial hand polydactyly, Partial duplication of thumb pha... ORPHA:857


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 Dppa4

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 Dppa4.

No publications found that use IMPC mice or data for Dppa4.

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

MGI Allele Allele Type Produced
Dppa4tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Dppa4tm1b(EUCOMM)Hmgu Reporter-tagged deletion allele (with selection cassette) Mice
Dppa4tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Dppa4tm1(NCOM)Mfgc Reporter-tagged deletion allele (with selection cassette) Targeting vectors, ES Cells

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