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Gene: Mdfi MGI:107687

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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:
MyoD family inhibitor
Synonyms:
I-mfa,  I-mf

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 Mdfi 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 Mdfi by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Spondylocostal Dysostosis 2, Autosomal Recessive
Short neck, Vertebral clefting, Hemivertebrae, Rib fusion, Restrictive ventilatory defect, Verteb... OMIM:608681
Spondylocostal Dysostosis 3, Autosomal Recessive
Contracture of the proximal interphalangeal joint of the 2nd finger, Kyphosis, Hypoplasia of the ... OMIM:609813
Spondylocostal Dysostosis 5
Vertebral fusion, Low back pain, Short neck, Missing ribs, Hemivertebrae, Pectus carinatum, Poste... OMIM:122600
Autosomal Dominant Spondylocostal Dysostosis
Hyperlordosis, Short neck, Missing ribs, Abnormal sacrum morphology, Short thorax, Abnormal rib m... ORPHA:1797
Diaphanospondylodysostosis
Respiratory distress, Missing ribs, Short neck, Myelomeningocele, Short thorax, Enlarged thorax, ... ORPHA:66637
Spondylocostal Dysostosis 4, Autosomal Recessive
Vertebral fusion, Abnormal odontoid process morphology, Block vertebrae, Reduced forced expirator... OMIM:613686
Spondylocostal Dysostosis 1, Autosomal Recessive
Back pain, Vertebral fusion, Block vertebrae, Abnormal odontoid process morphology, Kyphoscoliosi... OMIM:277300
Neurogenic Thoracic Outlet Syndrome
Abnormal rib morphology ORPHA:100073
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Finger syndactyly, Abnormality of the elbow, Abnormal rib morphology, Pectus carinatum, Radioulna... ORPHA:3268
Spondylometaphyseal Dysplasia, Type A4
Brachydactyly, Ovoid vertebral bodies, Coxa valga, Metaphyseal sclerosis, Enlargement of the cost... OMIM:609052
Becker Nevus Syndrome
Pectus excavatum, Kyphosis, Abnormal tibia morphology, Rib fusion, Pectus carinatum, Supernumerar... ORPHA:64755
Isolated Klippel-Feil Syndrome
Spina bifida, Short neck, Abnormal sacrum morphology, Abnormal rib morphology, Abnormal shoulder ... ORPHA:2345
Poland Syndrome
Syndactyly, Unilateral oligodactyly, Rib fusion, Hemivertebrae, Unilateral brachydactyly, Short r... OMIM:173800
Autosomal Recessive Spondylocostal Dysostosis
Rib segmentation abnormalities, Finger syndactyly, Abnormal intervertebral disk morphology, Campt... ORPHA:2311
Cervical Rib
Cervical ribs OMIM:117900
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type
Lumbar hyperlordosis, Flat capital femoral epiphysis, Pectus carinatum, Genu valgum, Irregular ve... OMIM:609223
Brachyolmia Type 1, Hobaek Type
Back pain, Sclerotic foci of metaphyses of the elbow, Flattened proximal radial epiphyses, Short ... OMIM:271530
Metatropic Dysplasia
Abnormal metaphyseal vascular invasion, Enlarged joints, Long coccyx, Halberd-shaped pelvis, Narr... OMIM:156530
Autosomal Dominant Brachyolmia
Kyphoscoliosis, Increased vertebral height, Short thorax, Platyspondyly, Abnormal metaphysis morp... ORPHA:93304
Femoral-Facial Syndrome
Short femur, Abnormal sacrum morphology, Abnormal rib morphology, Rib fusion, Coxa vara, Abnormal... ORPHA:1988
Spondylometaphyseal Dysplasia, Axial
Anterior rib cupping, Proximal femoral metaphyseal irregularity, Recurrent pneumonia, Coxa vara, ... OMIM:602271
Basal Cell Nevus Syndrome 1
Vertebral fusion, Short distal phalanx of the thumb, Down-sloping shoulders, Kyphoscoliosis, Spin... OMIM:109400
Brachyolmia, Maroteaux Type
Pectus excavatum, Short thorax, Abnormal form of the vertebral bodies, Platyspondyly, Scoliosis ORPHA:93302
Cerebrofaciothoracic Dysplasia
Short neck, Hemivertebrae, Rib fusion, Vertebral segmentation defect, Narrow chest, Scoliosis, Bi... ORPHA:1394
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome
Abnormal rib morphology ORPHA:2435
Stuve-Wiedemann Syndrome 2
Respiratory distress, Bowing of the long bones, Short long bone, Stillbirth, Scoliosis, Camptodac... OMIM:619751
Sprengel Deformity
Rib segmentation abnormalities, Cervical segmentation defect, Hemivertebrae, Scoliosis, Sprengel ... OMIM:184400
Spondylometaphyseal Dysplasia, A4 Type
Platyspondyly, Flared, irregular rib ends, Coxa vara, Short palm ORPHA:168555
Metatropic Dysplasia
Abnormal intervertebral disk morphology, Camptodactyly of finger, Kyphosis, Hydrocephalus, Abnorm... ORPHA:2635
Pelvis-Shoulder Dysplasia
Aplasia/Hypoplasia of the scapulae, Aplasia/Hypoplasia of the fibula, Prominent protruding coccyx... ORPHA:2839
Spondylometaphyseal Dysplasia, X-Linked
Hyperextensibility of the finger joints, Hip contracture, Enlarged joints, Thoracolumbar scoliosi... OMIM:313420
Metaphyseal Chondrodysplasia, Schmid Type
Broad proximal phalanges of the hand, Short tubular bones of the hand, Bowing of the legs, Proxim... ORPHA:174
Spondyloepimetaphyseal Dysplasia, Irapa Type
Metaphyseal dysplasia, Short metacarpal, Lumbar hyperlordosis, Hypoplastic sacrum, Enlargement of... OMIM:271650
Heart Defects-Limb Shortening Syndrome
Kyphosis, Abnormal rib morphology, Abnormal form of the vertebral bodies, Narrow chest, Abnormal ... ORPHA:1354
Ulnar Hemimelia
Glenoid fossa hypoplasia, Limited elbow movement, Osteoarthritis, Abnormal calcification of the c... ORPHA:93320
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Proximal placement of thumb, Spina bifida, Abnormal thumb morphology, Short thumb, Preaxial hand ... ORPHA:1120
Acropectorovertebral Dysplasia
Finger syndactyly, Camptodactyly of finger, Tarsal synostosis, Spina bifida, Pectus excavatum, Tr... ORPHA:957
Brachyolmia Type 1, Toledo Type
Back pain, Broad tibial metaphyses, Kyphoscoliosis, Short neck, Precocious costochondral ossifica... OMIM:271630
Endosteal Hyperostosis, Worth Type
Sclerotic vertebral body, Abnormal rib morphology, Abnormal form of the vertebral bodies, Clavicu... ORPHA:2790
Camptodactyly Syndrome, Guadalajara Type 1
Hallux valgus, Scapular winging, Sacral dimple, Toe syndactyly, Brachydactyly, Spina bifida, Camp... ORPHA:1327
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Broad toe, Lumbar hyperlordosis, Enlarged metacarpal epiphyses, Cupped ribs, Enlarged epiphyses o... OMIM:609616
Atelosteogenesis, Type Ii
Lumbar hyperlordosis, Sandal gap, Cervical kyphosis, Short neck, Increased intervertebral space, ... OMIM:256050
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type
Dysplastic iliac wing, Lumbar hyperlordosis, Ovoid vertebral bodies, Metaphyseal spurs, Bowing of... OMIM:608728
Axial Spondylometaphyseal Dysplasia
Aplasia/Hypoplasia of the vertebrae, Thoracic scoliosis, Proximal femoral metaphyseal irregularit... ORPHA:168549
Spondylometaphyseal Dysplasia, Kozlowski Type
Enlarged joints, Irregular, rachitic-like metaphyses, Short neck, Coxa vara, Pectus carinatum, Ha... OMIM:184252
Kyphomelic Dysplasia
Bowing of the long bones, Anterior rib cupping, Missing ribs, Lateral clavicle hook, Short thorax... ORPHA:1801
Thanatophoric Dysplasia, Type Ii
Small abnormally formed scapulae, Hypoplastic ilia, Wide-cupped costochondral junctions, Flared m... OMIM:187601
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Respiratory distress, Short neck, Narrow chest, Radial bowing, Dumbbell-shaped long bone, Flat ac... OMIM:151210
Nevus Comedonicus Syndrome
Finger syndactyly, Toe syndactyly, Spina bifida, Preaxial polydactyly, Scoliosis, Spina bifida oc... ORPHA:64754
Acropectorovertebral Dysplasia
Finger syndactyly, Toe syndactyly, Bifid distal phalanx of the thumb, Capitate-hamate fusion, Abn... OMIM:102510
Aicardi Syndrome
Block vertebrae, Spina bifida, Missing ribs, Proximal placement of thumb, Recurrent pneumonia, Ri... OMIM:304050
Infantile-Onset X-Linked Spinal Muscular Atrophy
Respiratory distress, Hip contracture, Abnormal anterior horn cell morphology, Interphalangeal jo... ORPHA:1145
Pseudoachondroplasia
Genu recurvatum, Spatulate ribs, Delayed epiphyseal ossification, Osteoarthritis, Metaphyseal wid... OMIM:177170
Spondyloepimetaphyseal Dysplasia, Strudwick Type
Brachydactyly, Club-shaped proximal femur, Anterior rib cupping, Hyperlordosis, Hypoplasia of the... OMIM:184250
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2
Congenital hip dislocation, Irregular vertebral endplates, Posterior scalloping of vertebral bodi... OMIM:603546
Mesomelic Dysplasia, Kantaputra Type
Camptodactyly of finger, Tarsal synostosis, Abnormality of the humerus, Abnormal rib morphology, ... ORPHA:1836
Spondyloepiphyseal Dysplasia Congenita
Barrel-shaped chest, Respiratory distress, Lumbar hyperlordosis, Ovoid vertebral bodies, Limited ... OMIM:183900
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly
Lateral clavicle hook, Postaxial hand polydactyly, Postaxial foot polydactyly, Trident acetabulum... OMIM:617405
Spondyloepimetaphyseal Dysplasia, Irapa Type
Short metacarpal, Osteoarthritis, Abnormal joint morphology, Abnormal rib morphology, Abnormal ca... ORPHA:93351
Fibrochondrogenesis 2
Hypoplastic ischia, Hypoplastic ilia, Cupped ribs, Metaphyseal widening, Hypoplastic pubic bone, ... OMIM:614524
Mucopolysaccharidosis, Type Iva
Short neck, Epiphyseal deformities of tubular bones, Metaphyseal widening, Pectus carinatum, Ante... OMIM:253000
Progressive Pseudorheumatoid Arthropathy Of Childhood
Irregularity of vertebral bodies, Enlarged epiphyses, Wrist swelling, Coxa vara, Abnormal shoulde... ORPHA:1159
Thanatophoric Dysplasia, Type I
Neonatal respiratory distress, Bowing of the long bones, Small abnormally formed scapulae, Short ... OMIM:187600
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3
Hypoplasia of the ulna, Short neck, Tapered finger, Multiple joint dislocation, Hip dislocation, ... OMIM:618395
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
Vertebral fusion, Sacral dimple, Hyperextensibility of the finger joints, Overlapping toe, Cranio... OMIM:213980
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Respiratory distress, Arachnodactyly, Missing ribs, Dyspnea, Abnormal rib morphology, Hemivertebr... ORPHA:2759
Congenital Myopathy 10A, Severe Variant
Respiratory distress, Camptodactyly of finger, Pectus excavatum, Respiratory insufficiency, Restr... OMIM:614399
Schneckenbecken Dysplasia
Hypoplastic scapulae, Ovoid vertebral bodies, Anterior rib cupping, Short neck, Lateral clavicle ... OMIM:269250
Odontochondrodysplasia 1
Respiratory distress, Genu recurvatum, Metaphyseal widening, Pectus carinatum, Narrow chest, Shor... OMIM:184260
Osteogenesis Imperfecta, Type Ix
Beaded ribs, Pectus excavatum, Kyphosis, Pectus carinatum, Platyspondyly, Scoliosis, Wormian bone... OMIM:259440
Spondylometaphyseal Dysplasia With Corneal Dystrophy
Neonatal respiratory distress, Coarse metaphyseal trabecularization, Increased intervertebral spa... OMIM:618961
Jeune Syndrome
Abnormal clavicle morphology, Toe syndactyly, Postaxial hand polydactyly, Short thorax, Abnormal ... ORPHA:474
Spondyloepiphyseal Dysplasia, Kimberley Type
Abnormal epiphysis morphology, Platyspondyly, Short thorax, Osteoarthritis ORPHA:93283
Thoracolaryngopelvic Dysplasia
Metaphyseal widening, Irregular chondrocostal junctions, Bell-shaped thorax, Irregular vertebral ... OMIM:187760
Spondylometaphyseal Dysplasia, Kozlowski Type
Short tubular bones of the hand, Increased intervertebral space, Delayed epiphyseal ossification,... ORPHA:93314
Pyle Disease
Metaphyseal dysplasia, Abnormal thorax morphology, Metaphyseal widening, Genu valgum, Platyspondy... OMIM:265900
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Short metacarpal, Ovoid vertebral bodies, Cupped ribs, Metaphyseal widening, Coxa vara, Femoral b... OMIM:608940
Spondyloepimetaphyseal Dysplasia, Missouri Type
Radial bowing, Irregular sclerotic endplates, Osteoarthritis, Ulnar bowing, Flared metaphysis, Co... OMIM:602111
Multiple Epiphyseal Dysplasia, Beighton Type
Thoracic scoliosis, Osteoarthritis, Coxa vara, Double-layered patella, Abnormal hip joint morphol... ORPHA:166011
Pseudoachondroplasia
Delayed epiphyseal ossification, Osteoarthritis, Metaphyseal widening, Abnormal form of the verte... ORPHA:750
Fountain Syndrome
Metaphyseal dysplasia, Brachydactyly, Coarse metaphyseal trabecularization, Spina bifida, Pectus ... ORPHA:3219
Odontochondrodysplasia
Respiratory distress, Bowing of the long bones, Coxa valga, Cone-shaped epiphysis, Platyspondyly,... ORPHA:166272
Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant
Barrel-shaped chest, Lumbar hyperlordosis, Kyphoscoliosis, Short neck, Avascular necrosis of the ... OMIM:184100
Spondyloepiphyseal Dysplasia Tarda, X-Linked
Back pain, Barrel-shaped chest, Lumbar hyperlordosis, Short neck, Hypoplastic iliac wing, Kyphosi... OMIM:313400
Brachyolmia Type 3
Barrel-shaped chest, Short neck, Spinal cord compression, Kyphosis, Proximal femoral metaphyseal ... OMIM:113500
Multiple Pterygium Syndrome, Escobar Variant
Short neck, Knee flexion contracture, Intercrural pterygium, Camptodactyly of toe, Pterygium, Dis... OMIM:265000
Dyggve-Melchior-Clausen Disease
Glenoid fossa hypoplasia, Short neck, Coxa vara, Pectus carinatum, Broad ribs, Iliac crest serrat... ORPHA:239
Pontine Tegmental Cap Dysplasia
Rib fusion, Hemivertebrae, Ankle clonus, Scoliosis, Aspiration OMIM:614688
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Superior rib anomalies, Abnormality of the cervical spine OMIM:307500
Aicardi Syndrome
Block vertebrae, Missing ribs, Rib fusion, Small hand, Hip dysplasia, Supernumerary ribs, Scolios... ORPHA:50
Epiphyseal Dysplasia, Multiple, With Severe Proximal Femoral Dysplasia
Irregularity of vertebral bodies, Epiphyseal dysplasia, Flat distal femoral epiphysis, Proximal f... OMIM:609324
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Postaxial polydactyly, Lateral clavicle hook, Respiratory insufficiency, Bell-shaped thorax, Shor... OMIM:615633
Autosomal Recessive Multiple Pterygium Syndrome
Finger syndactyly, Neonatal respiratory distress, Camptodactyly of finger, Multiple pterygia, Pec... ORPHA:2990
Spondyloepimetaphyseal Dysplasia, Handigodu Type
Abnormality of the knee, Hip contracture, Lumbar hyperlordosis, Abnormal intervertebral disk morp... ORPHA:99642
Spina Bifida-Hypospadias Syndrome
Spina bifida, Spinal dysraphism ORPHA:3176
Congenital Disorder Of Glycosylation, Type Iig
Thoracic scoliosis, Kyphoscoliosis, Short neck, Broad femoral neck, Squared iliac bones, Rib fusi... OMIM:611209
Cerebrocostomandibular Syndrome
Neonatal respiratory distress, Spina bifida, Tracheomalacia, Kyphosis, Myelomeningocele, Meningoc... ORPHA:1393
Kniest Dysplasia
Respiratory distress, Enlarged joints, Short neck, Delayed epiphyseal ossification, Coxa vara, Ti... OMIM:156550
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Vertebral fusion, Block vertebrae, Short neck, Missing ribs, Hemivertebrae, Rib fusion, Thin ribs... OMIM:271520
Greenberg Dysplasia
Abnormally ossified vertebrae, Abnormal pelvis bone ossification, Anterior rib punctate calcifica... ORPHA:1426
Smith-Mccort Dysplasia 1
Barrel-shaped chest, Short metacarpal, Hypoplastic scapulae, Iliac crest serration, Multicentric ... OMIM:607326
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
11 pairs of ribs, Hydrocephalus, Metaphyseal cupping of proximal phalanges, Thin ribs, Metaphysea... OMIM:300863
Epiphyseal Dysplasia, Multiple, 7
Epiphyseal dysplasia, Monkey wrench femoral neck, Advanced ossification of carpal bones, Vertebra... OMIM:617719
Nail-Patella Syndrome
Back pain, Lumbar hyperlordosis, Glenoid fossa hypoplasia, Spina bifida, Pectus excavatum, Patell... OMIM:161200
Caudal Duplication
Spina bifida, Abnormal sacrum morphology, Myelomeningocele, Bifid sacrum, Spinal cord lesion, Ver... ORPHA:1756
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Abnormal clavicle morphology, Bowing of the long bones, Proximal placement of thumb, Short neck, ... ORPHA:93267
Pleural Mesothelioma
Respiratory distress, Dyspnea, Abnormal thorax morphology, Abnormal respiratory system physiology... ORPHA:50251
Diastrophic Dysplasia
Joint dislocation, Abnormal clavicle morphology, Bowing of the long bones, Camptodactyly of finge... ORPHA:628
Craniodiaphyseal Dysplasia
Abnormal rib morphology, Diaphyseal thickening ORPHA:1513
Campomelic Dysplasia
Respiratory distress, Thoracic scoliosis, Apnea, Cervical kyphosis, Anterior tibial bowing, Delay... OMIM:114290
White Forelock With Malformations
Finger syndactyly, Abnormal rib morphology, Clinodactyly of the 5th finger, Sprengel anomaly, Spi... ORPHA:2475
Bruck Syndrome 1
Hip contracture, Protrusio acetabuli, Ankle flexion contracture, Kyphosis, Elbow flexion contract... OMIM:259450
Spondyloepiphyseal Dysplasia Tarda, Kohn Type
Abnormality of the knee, Platyspondyly, Abnormality of the ankle, Bilateral coxa valga, Abnormal ... ORPHA:163665
Dyggve-Melchior-Clausen Disease
Short neck, Metaphyseal widening, Flat glenoid fossa, Short metatarsal, Pectus carinatum, Femoral... OMIM:223800
Isolated Congenital Hypoglossia/Aglossia
Respiratory distress, Dyspnea, Aplasia/Hypoplasia of fingers, Upper airway obstruction, Aspiratio... ORPHA:141152
Proximal 16P11.2 Microdeletion Syndrome
Craniosynostosis, Rib fusion, Syringomyelia, Hand polydactyly, Scoliosis, Abnormal vertebral morp... ORPHA:261197
Achondroplasia
Respiratory distress, Bowing of the legs, Femoral bowing, Narrow greater sciatic notch, Trident h... OMIM:100800
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type
Upper-limb metaphyseal irregularity, Lower-limb metaphyseal irregularity, Enlarged metaphyses, Ir... OMIM:618728
Fibular Hemimelia
Bowing of the legs, Tibial bowing, Increased laxity of ankles, Foot oligodactyly, Short tibia, Ar... ORPHA:93323
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Abnormal clavicle morphology, Hyperlordosis, Short neck, Kyphosis, Pectus excavatum, Spinal cord ... ORPHA:2522
Fibrochondrogenesis 1
Short neck, Narrow greater sciatic notch, Short palm, Clinodactyly of the 5th finger, Widely pate... OMIM:228520
Spondyloepimetaphyseal Dysplasia, Shohat Type
Lumbar hyperlordosis, Short neck, Delayed epiphyseal ossification, Genu varum, Fibular overgrowth... OMIM:602557
Osteogenesis Imperfecta, Type Ii
Crumpled long bones, Broad long bones, Beaded ribs, Respiratory insufficiency, Thin ribs, Bell-sh... OMIM:166210
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Respiratory distress, Syndactyly, Thoracic hypoplasia, Postaxial polydactyly, Lateral clavicle ho... OMIM:617895
Laryngotracheoesophageal Cleft Type 4
Abnormal lower motor neuron morphology, Respiratory insufficiency, Abnormal rib morphology, Abnor... ORPHA:93941
Septopreoptic Holoprosencephaly
Abnormal rib morphology, Abnormal vertebral morphology, Ethmoidal encephalocele ORPHA:280195
Spondyloepimetaphyseal Dysplasia, Shohat Type
Short neck, Bowing of the legs, Delayed epiphyseal ossification, Metaphyseal widening, Abnormal v... ORPHA:93352
Lethal Recessive Chondrodysplasia
Respiratory distress, Short long bone, Narrow chest, Flared elbow metaphyses ORPHA:1423
Smith-Mccort Dysplasia 2
Barrel-shaped chest, Short metacarpal, Enlarged interphalangeal joints, Broad femoral neck, Hyper... OMIM:615222
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2
Vertebral segmentation defect, Abnormal rib morphology, Short neck ORPHA:2578
Spondyloepiphyseal Dysplasia Tarda
Back pain, Abnormality of the tibial plateaux, Osteoarthritis of the distal interphalangeal joint... ORPHA:93284
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type
Abnormal metatarsal morphology, Delayed epiphyseal ossification, Multiple joint dislocation, Abno... ORPHA:93360
Osteoarthritis With Mild Chondrodysplasia
Heberden's node, Knee osteoarthritis, Schmorl's node, Irregular vertebral endplates, Platyspondyl... OMIM:604864
Neural Tube Defects, Folate-Sensitive
Spinal dysraphism OMIM:601634
Robinow Syndrome, Autosomal Recessive 1
Short neck, Hemivertebrae, Short palm, Thoracic hemivertebrae, Duplication of the distal phalanx ... OMIM:268310
Spondyloepiphyseal Dysplasia, Stanescu Type
Kyphoscoliosis, Coxa valga, Hypoplastic ilia, Vertebral wedging, Platyspondyly, Internal tibial t... OMIM:616583
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Sandal gap, Hydrocephalus, Hemivertebrae, Abnormal rib morphology, Abnormal form of the vertebral... ORPHA:2180
Osteogenesis Imperfecta, Type Xv
Platyspondyly, Scoliosis, Thin ribs OMIM:615220
Perching Syndrome
Respiratory distress, Scoliosis, Camptodactyly OMIM:617055
Juberg-Hayward Syndrome
Toe syndactyly, Short thumb, Hypoplasia of the radius, Abnormal finger morphology, Abnormal rib m... ORPHA:2319
Osteogenesis Imperfecta, Type Xxi
Barrel-shaped chest, Bowing of the legs, Pectus excavatum, Coxa valga, Coxa vara, Bell-shaped tho... OMIM:619131
Spondyloepiphyseal Dysplasia Congenita
Back pain, Limited elbow movement, Short neck, Barrel-shaped chest, Abnormally ossified vertebrae... ORPHA:94068
Acalvaria
Hydrocephalus, Holoprosencephaly, Spina bifida, Postaxial hand polydactyly ORPHA:945
Mucopolysaccharidosis, Type Ivb
Ulnar deviation of the wrist, Ovoid vertebral bodies, Hyperlordosis, Epiphyseal deformities of tu... OMIM:253010
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Iliac crest serration, Short neck, Wide distal femoral metaphysis, Delayed epiphyseal ossificatio... OMIM:613320
Spondylometaphyseal Dysplasia, Algerian Type
Metaphyseal dysplasia, Lumbar hyperlordosis, Bowed humerus, Anterior rib cupping, Kyphoscoliosis,... OMIM:184253
Phaver Syndrome
Broad hallux phalanx, Camptodactyly of finger, Short thumb, Myelomeningocele, Abnormal rib morpho... ORPHA:2876
Anauxetic Dysplasia 3
Short metacarpal, Thoracolumbar kyphoscoliosis, Pectus excavatum, Wide anterior fontanel, Spinal ... OMIM:618853
Dysspondyloenchondromatosis
Joint dislocation, Enlarged joints, Kyphoscoliosis, Osteoarthritis, Abnormal fibula morphology, G... ORPHA:85198
Holt-Oram Syndrome
Abnormal clavicle morphology, Finger syndactyly, Down-sloping shoulders, Absent thumb, Pectus exc... ORPHA:392
Craniorachischisis
Cervical spina bifida, Myelomeningocele, Anencephaly, Spinal dysraphism, Sirenomelia, Bifid sternum ORPHA:63260
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome
Short neck, Abnormal rib morphology, Hemivertebrae, Abnormal form of the vertebral bodies, Abnorm... ORPHA:2234
Spondyloepiphyseal Dysplasia Tarda With Mental Retardation
Short greater sciatic notch, Platyspondyly, Anterior beaking of lumbar vertebrae, Coxa valga OMIM:271620
Lethal Osteosclerotic Bone Dysplasia
Respiratory distress, Short neck, Dyspnea, Respiratory failure, Delayed cranial suture closure ORPHA:1832
Desbuquois Dysplasia 1
Joint dislocation, Triangular shaped phalanges of the hand, Short neck, Osteoarthritis, Metaphyse... OMIM:251450
Anauxetic Dysplasia 1
Barrel-shaped chest, Short palm, Hip contracture, Lumbar hyperlordosis, Short neck, Hypoplastic i... OMIM:607095
Ophthalmoplegia, External, And Myopia
Spina bifida OMIM:311000
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Hypoplastic iliac wing, Metaphyseal chondrodysplasia, Hydrocephalus, Abnormality of the calcaneus... ORPHA:163966
Frontal Encephalocele
Encephalocele, Hydrocephalus, Spina bifida ORPHA:1931
Fibrochondrogenesis
Hypoplastic scapulae, Camptodactyly of finger, Short neck, Wide anterior fontanel, Abnormal rib m... ORPHA:2021
Diaphanospondylodysostosis
Delayed vertebral ossification, Respiratory distress, Absent in utero ossification of vertebral b... OMIM:608022
Thanatophoric Dysplasia Type 2
Encephalocele, Kyphosis, Hydrocephalus, Short thorax, Respiratory insufficiency, Platyspondyly, H... ORPHA:93274
Osteogenesis Imperfecta, Type X
Respiratory distress, Multiple rib fractures, Thoracic scoliosis, Chronic lung disease, Short fem... OMIM:613848
Kniest Dysplasia
Arthropathy, Enlarged epiphyses, Enlarged joints, Abnormality of the epiphysis of the femoral hea... ORPHA:485
Radio-Renal Syndrome
Respiratory distress, Short neck, Dyspnea, Hypoplasia of the radius, Abnormal rib morphology, Abn... ORPHA:3015
Otopalatodigital Syndrome, Type Ii
Congenital hip dislocation, Short neck, Short metatarsal, Femoral bowing, Tibial bowing, Narrow c... OMIM:304120
Waardenburg Syndrome Type 1
Sprengel anomaly, Meningocele, Spina bifida, Scoliosis ORPHA:894
Kbg Syndrome
Vertebral fusion, Syndactyly, Short neck, Rib fusion, Vertebral arch anomaly, Cutaneous syndactyl... OMIM:148050
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases
Joint contracture of the hand, Spina bifida, Camptodactyly OMIM:211960
Mosaic Trisomy 14
Camptodactyly of finger, Abnormal rib morphology, Narrow chest, Short neck ORPHA:1703
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy
Wormian bones, Anterior rib cupping, Kyphoscoliosis, Short neck, Hypoplasia of the odontoid proce... OMIM:300232
Thanatophoric Dysplasia
Abnormal sacroiliac joint morphology, Kyphosis, Short thorax, Hydrocephalus, Respiratory insuffic... ORPHA:2655
Spondyloperipheral Dysplasia
Short distal phalanx of the 4th finger, Short neck, Short metatarsal, Pectus carinatum, Irregular... OMIM:271700
Thin Ribs-Tubular Bones-Dysmorphism Syndrome
Slender long bone, Abnormal pelvic girdle bone morphology, Abnormal rib morphology ORPHA:1506
Lethal Kniest-Like Dysplasia
Abnormal ischium morphology, Broad long bones, Anterior rib cupping, Short neck, Hypoplastic ilia... ORPHA:2347
Achondrogenesis Type 1B
Short neck, Short thorax, Abnormal rib morphology, Short foot, Narrow chest, Umbilical hernia ORPHA:93298
Metaphyseal Chondrodysplasia, Schmid Type
Irregular acetabular roof, Metaphyseal chondrodysplasia, Metaphyseal widening, Coxa vara, Femoral... OMIM:156500
Cartilage-Hair Hypoplasia
Short neck, Metaphyseal chondrodysplasia, Abnormal form of the vertebral bodies, Pectus carinatum... ORPHA:175
Grant Syndrome
Joint dislocation, Bowing of the long bones, Abnormal rib morphology, Abnormal pelvic girdle bone... ORPHA:2097
Neurogenic Arthrogryposis Multiplex Congenita
Respiratory distress, Hip contracture, Rocker bottom foot, Ankle flexion contracture, Respiratory... ORPHA:1143
Cooper-Jabs Syndrome
Camptodactyly of finger, Proximal placement of thumb, Missing ribs, Abnormal rib morphology, Resp... ORPHA:1488
Lethal Congenital Contracture Syndrome Type 1
Short neck, Abnormality of the elbow, Abnormal rib morphology, Abnormal form of the vertebral bod... ORPHA:1486
Melnick-Needles Syndrome
Bowing of the long bones, Delayed cranial suture closure, Coxa valga, Short thorax, Abnormal rib ... ORPHA:2484
Brachytelephalangic Chondrodysplasia Punctata
Cervical kyphosis, Tachypnea, Cervical cord compression, Hypoplastic cervical vertebrae, Vertebra... ORPHA:79345
Spondyloepimetaphyseal Dysplasia, Di Rocco Type
Metaphyseal dysplasia, Bowing of the legs, Platyspondyly, Delayed ossification of carpal bones, I... OMIM:617974
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Ovoid vertebral bodies, Short neck, Coxa valga, Wide anterior fontanel, Abnormality of the elbow,... ORPHA:163649
Klippel-Feil Syndrome 1, Autosomal Dominant
Short neck, Abnormal rib morphology, Scoliosis, Cervical C2/C3 vertebral fusion, Sprengel anomaly... OMIM:118100
Hypomyelination Neuropathy-Arthrogryposis Syndrome
Respiratory distress ORPHA:2680
Spondyloepiphyseal Dysplasia, Kimberley Type
Flat capital femoral epiphysis, Platyspondyly, Genu varum, Genu valgum OMIM:608361
Brachydactylous Dwarfism, Mseleni Type
Protrusio acetabuli, Abnormal femoral head morphology, Short toe, Knee osteoarthritis, Platyspond... ORPHA:2619
Czeizel-Losonci Syndrome
Hitchhiker thumb, Thoracolumbar scoliosis, Spina bifida, Hydrocephalus, Myelomeningocele, 2-3 fin... ORPHA:2437
Mucopolysaccharidosis, Type X
Irregular acetabular roof, Spatulate ribs, Hyperlordosis, Broad clavicles, Genu valgum, Platyspon... OMIM:619698
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Respiratory distress, Short metacarpal, Brachydactyly, Sandal gap, Postaxial polydactyly, Short t... OMIM:617102
Pallister-Hall Syndrome
Syndactyly, Mesoaxial foot polydactyly, Toe syndactyly, Mesoaxial hand polydactyly, Postaxial han... OMIM:146510
Shwachman-Diamond Syndrome 1
Respiratory distress, Neonatal respiratory distress, Anterior rib cupping, Ovoid vertebral bodies... OMIM:260400
Mucopolysaccharidosis Type 4
Joint dislocation, Bowing of the long bones, Hyperlordosis, Short neck, Kyphosis, Coxa valga, Sho... ORPHA:582
Emphysema, Congenital Lobar
Respiratory distress OMIM:130710
Hypophosphatasia
Bowing of the long bones, Craniosynostosis, Abnormal rib morphology, Respiratory insufficiency, N... ORPHA:436
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Respiratory distress, Kyphoscoliosis OMIM:619099
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Abnormally ossified vertebrae, Radial bowing, Bowing of the long bones, Aqueductal stenosis, Abno... ORPHA:3035
Congenital Disorder Of Glycosylation, Type Iy
Respiratory distress, Clinodactyly, Joint dislocation, Scoliosis OMIM:300934
Waardenburg Syndrome, Type 1
Spina bifida, Myelomeningocele, Supernumerary ribs, Supernumerary vertebrae, Sprengel anomaly OMIM:193500
Platyspondylic Dysplasia, Torrance Type
Bowing of the long bones, Hypoplastic scapulae, Short thorax, Abnormal carpal morphology, Hypopla... ORPHA:85166
Acromesomelic Dysplasia 4
Thoracic scoliosis, Short metatarsal, Short phalanx of finger, Genu varum, Short metacarpal, Lumb... OMIM:619636
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type
Short neck, Bowing of the legs, Pectus carinatum, Knee flexion contracture, Abnormal calcificatio... OMIM:271665
Limb Body Wall Complex
Encephalocele, Thoracoabdominal wall defect, Broad hallux, Aplasia/hypoplasia involving bones of ... ORPHA:2369
Autosomal Recessive Robinow Syndrome
Short neck, Pectus carinatum, Vertebral segmentation defect, Clinodactyly of the 5th finger, Syno... ORPHA:1507
Hypophosphatasia, Infantile
Apnea, Craniosynostosis, Bowing of the legs, Vertebral clefting, Platyspondyly, Stillbirth, Short... OMIM:241500
Muscular Hypertonia, Lethal
Respiratory distress, Umbilical hernia, Pneumonia OMIM:254120
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Radial bowing, Postaxial polydactyly, Missing ribs, Hypoplastic ischia, Hydrocephalus, Ulnar bowi... OMIM:617866
Spondyloperipheral Dysplasia-Short Ulna Syndrome
Hypoplasia of the ulna, Broad hallux, Ovoid vertebral bodies, Abnormality of the vertebral endpla... ORPHA:1856
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome
Sacral dimple, Tapered toe, Tapered finger, Asthma, Rib fusion, Clinodactyly of the 5th finger ORPHA:544488
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome
Broad hallux phalanx, Toe syndactyly, Short neck, Metatarsus valgus, Kyphosis, Postaxial hand pol... ORPHA:3082
Spondyloepimetaphyseal Dysplasia, Aggrecan Type
Barrel-shaped chest, Lumbar hyperlordosis, Short neck, Metaphyseal widening, Irregular epiphyses,... OMIM:612813
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Respiratory distress, Central apnea, Lumbar hyperlordosis, Kyphosis, Wide anterior fontanel, Hydr... OMIM:616482
Desbuquois Dysplasia 2
Short neck, Metaphyseal widening, Pectus carinatum, Knee dislocation, Narrow chest, Short phalanx... OMIM:615777
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies
Pectus excavatum, Hypoplastic distal segments of scapulae, Abnormal rib morphology OMIM:602196
Thoraco-Abdominal Enteric Duplication
Camptodactyly of finger, Missing ribs, Diastomatomyelia, Meningocele, Respiratory insufficiency ORPHA:1759
Cog1-Cdg
Irregularity of vertebral bodies, Kyphoscoliosis, Short neck, Coxa valga, Rib fusion, Posterior r... ORPHA:263508
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type
Abnormally ossified vertebrae, Spinal cord compression, Flared metaphysis, Abnormal respiratory s... ORPHA:93346
Cole-Carpenter Syndrome 2
Wide cranial sutures, Pectus excavatum, Kyphosis, Hydrocephalus, Thin ribs, Platyspondyly, Lambdo... OMIM:616294
Anophthalmia Plus Syndrome
Deviation of finger, Vertebral segmentation defect, Spina bifida ORPHA:1104
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech
Short neck, Delayed epiphyseal ossification, Short palm, Hypoplastic iliac wing, Short phalanx of... OMIM:611717
Schwartz-Jampel Syndrome, Type 1
Congenital hip dislocation, Cervical kyphosis, Short neck, Bowing of the legs, Metaphyseal wideni... OMIM:255800
Microphthalmia, Syndromic 3
Vertebral fusion, Missing ribs, Rib fusion, Hemivertebrae, Supernumerary ribs, Butterfly vertebra... OMIM:206900
10Q22.3Q23.3 Microduplication Syndrome
Abnormal clavicle morphology, Abnormal rib morphology ORPHA:276422
Cole-Carpenter Syndrome
Communicating hydrocephalus, Crumpled long bones, Bowing of the long bones, Kyphosis, Abnormal ri... ORPHA:2050
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly
Joint dislocation, Femoral bowing, Knee flexion contracture, Short 5th metacarpal, Radial bowing,... OMIM:618019
Femoral-Facial Syndrome
Short third metatarsal, Short humerus, Short fourth metatarsal, Toe syndactyly, Short fifth metat... OMIM:134780
Spondylocamptodactyly Syndrome
Platyspondyly, Camptodactyly of finger, Scoliosis ORPHA:3180
Atelosteogenesis, Type I
Short neck, Short metatarsal, Tibial bowing, Knee dislocation, Narrow chest, Neonatal death, Vert... OMIM:108720
Becker Nevus Syndrome
Pectus excavatum, Cervical ribs, Hemivertebrae, Scoliosis OMIM:604919
Saul-Wilson Syndrome
Enlarged epiphyses, Short metacarpal, Pseudoepiphyses of the metacarpals, Coxa valga, Pectus exca... OMIM:618150
Chiari Malformation Type Ii
Spina bifida, Myelomeningocele, Hydrocephalus, Cervical myelopathy, Syringomyelia, Inspiratory st... OMIM:207950
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness
Metaphyseal widening, Flat glenoid fossa, Coxa vara, Short palm, Genu varum, Lumbar hyperlordosis... OMIM:250420
Mosaic Trisomy 9
Rocker bottom foot, Spina bifida, Short neck, Elbow dislocation, Camptodactyly of finger, Hemiver... ORPHA:99776
3M Syndrome
Hypoplasia of the ulna, Scapular winging, Congenital hip dislocation, Rocker bottom foot, Hypopla... ORPHA:2616
Thanatophoric Dysplasia Type 1
Bowing of the long bones, Short femur, Hypoplastic ilia, Abnormal sacroiliac joint morphology, Wi... ORPHA:1860
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus
Barrel-shaped chest, Epiphyseal dysplasia, Shortening of all middle phalanges of the fingers, Ivo... OMIM:226980
Cantu Syndrome
Broad hallux, Ovoid vertebral bodies, Short hallux, Short neck, Coxa valga, Metaphyseal widening,... OMIM:239850
Achondrogenesis Type 1A
Multiple rib fractures, Short neck, Short thorax, Short foot, Narrow chest, Short palm, Umbilical... ORPHA:93299
Progressive Pseudorheumatoid Dysplasia
Arthropathy, Enlarged epiphyses, Enlarged interphalangeal joints, Camptodactyly of finger, Kyphos... OMIM:208230
1P36 Deletion Syndrome
11 pairs of ribs, Camptodactyly of finger, Kyphosis, Rib fusion, Spinal canal stenosis, Short foo... ORPHA:1606
Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes
Kyphoscoliosis, Bowing of the legs, Irregular vertebral endplates, Platyspondyly, Lumbar scoliosi... OMIM:612847
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Respiratory distress, Postaxial hand polydactyly, Abnormal rib morphology, Pulmonary arterial hyp... ORPHA:2519
Hallermann-Streiff Syndrome
Wormian bones, Spina bifida, Hyperlordosis, Pectus excavatum, Metaphyseal widening, Recurrent pne... OMIM:234100
Spondylometaphyseal Dysplasia, Pagnamenta Type
Femoral bowing, Platyspondyly, Thoracic kyphosis, Wormian bones, Short 4th metacarpal, Broad thum... OMIM:619638
Second Metatarsal-Metacarpal Syndrome
Platyspondyly, Synostosis of carpals/tarsals, Abnormal metacarpal morphology OMIM:269630
Cleidocranial Dysplasia 1
Respiratory distress, Persistent open anterior fontanelle, Short middle phalanx of the 2nd finger... OMIM:119600
Osteogenesis Imperfecta, Type Xvi
Angulated humerus, Multiple rib fractures, Bowing of the long bones, Beaded ribs, Platyspondyly, ... OMIM:616229
Bronchopulmonary Dysplasia
Respiratory distress, Central apnea, Respiratory failure requiring assisted ventilation, Dyspnea,... ORPHA:70589
Dysosteosclerosis
Sclerotic scapulae, Delayed closure of the anterior fontanelle, Increased intervertebral space, A... OMIM:224300
Thrombocytopenia-Absent Radius Syndrome
Lateral clavicle hook, Femoral bowing, Abnormal shoulder morphology, Clinodactyly of the 5th fing... OMIM:274000
Wolf-Hirschhorn Syndrome
Rib segmentation abnormalities, Hypoplastic pubic ramus, Sacral dimple, Tethered cord, Arachnodac... ORPHA:280
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly
Metaphyseal dysplasia, Short middle phalanx of the 2nd finger, Multiple small vertebral fractures... OMIM:156510
Acrocapitofemoral Dysplasia
Short proximal phalanx of thumb, Coxa vara, Pectus carinatum, Narrow chest, Short palm, Hypoplast... OMIM:607778
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Aplasia/Hypoplasia of the radius, Anencephaly, Spina bifida ORPHA:2476
Cat-Eye Syndrome
Hip dysplasia, Abnormal rib morphology ORPHA:195
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome
Respiratory distress ORPHA:171703
Osteogenesis Imperfecta, Type Iii
Protrusio acetabuli, Kyphosis, Wide anterior fontanel, Thin ribs, Tibial bowing, Slender long bon... OMIM:259420
Aplasia Cutis Congenita
Finger syndactyly, Toe syndactyly, Spinal dysraphism ORPHA:1114
Microcephalic Primordial Dwarfism, Toriello Type
Abnormal rib morphology, Abnormal epiphysis morphology, Brachydactyly ORPHA:2643
Spondylometaphyseal Dysplasia, Sedaghatian Type
Short metacarpal, Abnormal scapula morphology, Iliac crest serration, Metaphyseal chondrodysplasi... ORPHA:93317
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome
Short fourth metatarsal, Short neck, Tibial metaphyseal irregularity, Coxa vara, Flattened femora... ORPHA:457395
Osteogenesis Imperfecta, Type Xiii
Angulated humerus, Arachnodactyly, Kyphoscoliosis, Wide distal femoral metaphysis, Pectus carinat... OMIM:614856
Greenberg Dysplasia
Beaded ribs, Tetraphocomelia, Hypoplastic vertebral bodies, Hypoplasia of the calcaneus, Narrow c... OMIM:215140
Microcephalic Osteodysplastic Dysplasia, Saul-Wilson Type
Irregularity of vertebral bodies, Hypoplasia of the odontoid process, Small hand, Cone-shaped epi... ORPHA:85172
Anencephaly 1
Anencephaly, Spina bifida OMIM:206500
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Thoracic scoliosis, Short neck, Thoracic kyphosis, Short palm, Clinodactyly of the 5th finger, Th... ORPHA:508498
Chromosome 1P36 Deletion Syndrome, Distal
11 pairs of ribs, Camptodactyly of finger, Delayed closure of the anterior fontanelle, Metatarsus... OMIM:607872
Cleidocranial Dysplasia
Hypoplastic scapulae, Sinusitis, Down-sloping shoulders, Wormian bones, Tapered finger, Abnormal ... ORPHA:1452
Bruck Syndrome 2
Elbow flexion contracture, Femoral bowing, Knee flexion contracture, Pectus carinatum, Platyspond... OMIM:609220
Chromosome 17P13.1 Deletion Syndrome
Hallux valgus, Sacral dimple, Arachnodactyly, Broad hallux, Spina bifida, Short neck, Proximal pl... OMIM:613776
Achondrogenesis, Type Ii
Barrel-shaped chest, Absent vertebral body mineralization, Broad long bones, Short tubular bones ... OMIM:200610
Immunodeficiency 95
Respiratory distress, Respiratory failure, Recurrent viral pneumonia OMIM:619773
Spondyloepiphyseal Dysplasia, Maroteaux Type
Platyspondyly, Genu valgum OMIM:184095
Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures
Respiratory distress, Kyphoscoliosis OMIM:617977
Aspergillosis
Sinusitis, Pneumonia, Dyspnea, Asthma, Chronic pulmonary obstruction, Abnormal rib morphology, Br... ORPHA:1163
Pseudodiastrophic Dysplasia
Elbow dislocation, Platyspondyly, Phalangeal dislocation, Scoliosis ORPHA:85174
Myasthenic Syndrome, Congenital, 6, Presynaptic
Respiratory distress, Respiratory insufficiency due to muscle weakness, Sudden episodic apnea, Ap... OMIM:254210
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Multiple rib fractures, Short femur, Fractured radius, Beaded ribs, Short neck, Decreased fibular... OMIM:616897
Severe X-Linked Mitochondrial Encephalomyopathy
Respiratory distress, Respiratory insufficiency ORPHA:238329
Cantú Syndrome
Finger syndactyly, Broad hallux phalanx, Ovoid vertebral bodies, Short hallux, Short neck, Coxa v... ORPHA:1517
Opsismodysplasia
Short metacarpal, Anterior rib cupping, Short neck, Hypoplasia of the odontoid process, Squared i... OMIM:258480
Mucopolysaccharidosis, Type Vii
Anterior beaking of lower thoracic vertebrae, Spatulate ribs, Short neck, Pectus excavatum, Hypop... OMIM:253220
Achondrogenesis, Type Ia
Barrel-shaped chest, Abnormal femoral metaphysis morphology, Hypoplastic sacrum, Hypoplastic scap... OMIM:200600
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Respiratory distress, Metaphyseal widening, Multiple joint dislocation, Pectus carinatum, Arachno... ORPHA:536467
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Respiratory distress, Respiratory insufficiency due to muscle weakness, Recurrent pneumonia, Resp... ORPHA:254875
Trisomy 20P
Finger syndactyly, Camptodactyly of finger, Spina bifida, Short neck, Kyphosis, Preaxial hand pol... ORPHA:261318
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Sprengel anomaly, Abnormality of the vertebral column, Abnormal rib morphology OMIM:601076
Spinal muscular atrophy, type I, with congenital bone fractures
Respiratory distress, Congenital hip dislocation, Arachnodactyly, Rocker bottom foot, Pectus exca... OMIM:271225
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Ivory epiphyses, Short metacarpal, Bowing of the long bones, Ovoid vertebral bodies, Metaphyseal ... ORPHA:85167
Focal Dermal Hypoplasia
Finger syndactyly, Toe syndactyly, Camptodactyly of finger, Spina bifida, Split hand, Split foot,... ORPHA:2092
Congenital Diaphragmatic Hernia
Respiratory distress, Prominent sternum, Hypoxemia ORPHA:2140
Thoracic Outlet Syndrome
Abnormal rib morphology ORPHA:97330
Split Cord Malformation
Back pain, Abnormal thoracic spine morphology, Low back pain, Tethered cord, Kyphoscoliosis, Hype... ORPHA:573278
Baller-Gerold Syndrome
Limited elbow movement, Patellar hypoplasia, Spina bifida occulta, Abnormal vertebral morphology,... OMIM:218600
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Respiratory distress, Fused cervical vertebrae, Joint swelling, Flaring of rib cage, Broad ribs OMIM:612852
Myasthenic Syndrome, Congenital, 4A, Slow-Channel
Respiratory distress, Respiratory insufficiency due to muscle weakness, Sudden episodic apnea, Ap... OMIM:605809
Spondyloepimetaphyseal Dysplasia, X-Linked
Anterior wedging of T12, Pectus carinatum, Long fibula, Short palm, Short phalanx of finger, Broa... OMIM:300106
Meier-Gorlin Syndrome 1
Respiratory distress, Genu recurvatum, Lateral clavicle hook, Flat glenoid fossa, Hemivertebrae, ... OMIM:224690
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
Short neck, Coxa vara, Pectus carinatum, Tibial bowing, Hypoplastic iliac wing, Abnormal vertebra... ORPHA:93315
Vater/Vacterl Association
Occipital encephalocele, Syndactyly, Tethered cord, Spina bifida, Absent radius, Short thumb, Hyp... OMIM:192350
Geroderma Osteodysplastica
Vertebral compression fracture, Hip dislocation, Abnormal form of the vertebral bodies, Pectus ca... ORPHA:2078
Craniodiaphyseal Dysplasia, Autosomal Dominant
Thickened ribs, Diaphyseal sclerosis OMIM:122860
Lymphangiectasia, Intestinal
Stillbirth, Prominent floating ribs OMIM:152800
Myotubular Myopathy With Abnormal Genital Development
Respiratory distress, Neonatal death, Thin ribs OMIM:300219
Bardet-Biedl Syndrome 16
Respiratory distress, Polydactyly OMIM:615993
Poland Syndrome
Aplasia/Hypoplasia of the thumb, Short neck, Hemivertebrae, Pectus carinatum, Vertebral segmentat... ORPHA:2911
Chitayat Syndrome
Hallux valgus, Respiratory distress, Pectus excavatum, Tracheomalacia, Brachydactyly OMIM:617180
Hyperparathyroidism, Transient Neonatal
Communicating hydrocephalus, Respiratory distress, Wide cranial sutures, Short femur, Metaphyseal... OMIM:618188
Axial Mesodermal Dysplasia Spectrum
Abnormality of the knee, Short neck, Missing ribs, Hydrocephalus, Abnormal rib morphology, Abnorm... ORPHA:1834
Gm1-Gangliosidosis, Type Iii
Kyphosis, Flared iliac wing, Platyspondyly, Scoliosis, Anterior beaking of lumbar vertebrae, Hypo... OMIM:230650
Microlissencephaly-Micromelia Syndrome
11 pairs of ribs, Adducted thumb, Respiratory distress, Short neck ORPHA:50810
Cenani-Lenz Syndrome
Hypoplasia of the ulna, Finger syndactyly, Toe syndactyly, Elbow dislocation, Short thumb, Hypopl... ORPHA:3258
Osteogenesis Imperfecta, Type Viii
Barrel-shaped chest, Short metacarpal, Radial bowing, Femoral retroversion, Kyphosis, Wide anteri... OMIM:610915
Bent Bone Dysplasia Syndrome 2
Bowed humerus, Short neck, Ulnar bowing, Thin ribs, Femoral bowing, Coronal cleft vertebrae, Plat... OMIM:620076
Kyphomelic Dysplasia
Short humerus, Short metacarpal, Radial bowing, Short femur, Anterior rib cupping, Bowed humerus,... OMIM:211350
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive
Flattened metatarsal heads, Osteoarthritis, Platyspondyly, Hip osteoarthritis, Flattened metacarp... OMIM:271600
Osteogenesis Imperfecta, Type Xviii
Bowing of the long bones, Femoral bowing, Thin ribs, Biconcave vertebral bodies, Wormian bones, U... OMIM:617952
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Short neck, Hemivertebrae, Tibial bowing, Narrow chest, Hypoplastic iliac wing, Small proximal ti... ORPHA:96334
Spondylometaphyseal Dysplasia, Sedaghatian Type
Short neck, Delayed epiphyseal ossification, Long fibula, Narrow chest, Narrow greater sciatic no... OMIM:250220
Czech Dysplasia
Narrow femoral neck, Short metacarpal, Flat capital femoral epiphysis, Short toe, Short metatarsa... OMIM:609162
Schisis Association
Encephalocele, Anencephaly, Spina bifida ORPHA:63862
Wolf-Hirschhorn Syndrome
Rib segmentation abnormalities, Vertebral fusion, Sacral dimple, Tethered cord, Pseudoepiphyses o... OMIM:194190
Developmental And Epileptic Encephalopathy 30
Respiratory distress OMIM:616341
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
Short neck, Metaphyseal widening, Delayed proximal femoral epiphyseal ossification, Irregular ver... OMIM:271640
Acro-Renal-Mandibular Syndrome
Abnormal clavicle morphology, Hypoplasia of the ulna, Hypoplastic scapulae, Finger syndactyly, Sh... ORPHA:958
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Respiratory distress, Lumbar hyperlordosis, Spinal rigidity, Dyspnea, Scoliosis, Cough ORPHA:86812
Spondylometaphyseal Dysplasia, Schmidt Type
Abnormality of the knee, Metaphyseal dysplasia, Irregular iliac crest, Irregular acetabular roof,... ORPHA:93316
Stickler Syndrome, Type I
Arthropathy, Arachnodactyly, Pectus excavatum, Kyphosis, Osteoarthritis, Irregular femoral epiphy... OMIM:108300
Pseudodiastrophic Dysplasia
Lumbar hyperlordosis, Phalangeal dislocation, Short neck, Elbow dislocation, Hypoplasia of the od... OMIM:264180
Pelvis-Shoulder Dysplasia
Back pain, Lumbar hyperlordosis, Hypoplastic scapulae, Congenital hip dislocation, Hypoplastic il... OMIM:169550
Osteogenesis Imperfecta, Type V
Hyperextensibility of the finger joints, Vertebral wedging, Abnormal pelvic girdle bone morpholog... OMIM:610967
Congenital Myopathy 22B, Severe Fetal
Respiratory distress, Hip contracture, Scapular winging, Thoracic scoliosis, Tapered toe, Shoulde... OMIM:620369
Robinow Syndrome
Fused thoracic vertebrae, Syndactyly, Brachydactyly, Kyphoscoliosis, Missing ribs, Bifid distal p... ORPHA:97360
Three M Syndrome 2
Scapular winging, Lumbar hyperlordosis, Hyperlordosis, Short neck, Short thorax, Pectus carinatum... OMIM:612921
Mucopolysaccharidosis, Type Iiia
Umbilical hernia, Thickened ribs, Ovoid thoracolumbar vertebrae, Scoliosis OMIM:252900
Atelosteogenesis Type I
Joint dislocation, Short femur, Abnormal ossification involving the femoral head and neck, Abnorm... ORPHA:1190
Tetrasomy 5P
Respiratory distress, Overlapping toe, Short hallux, Short neck, Pectus excavatum, Wide anterior ... ORPHA:3309
Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant
Enlarged epiphyses, Epiphyseal dysplasia, Platyspondyly, Premature osteoarthritis OMIM:184840
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Short tubular bones of the hand, Coxa valga, Wide anterior fontanel, Vertebral arch anomaly, Abno... ORPHA:85184
Trisomy 18
Camptodactyly of finger, Spina bifida, Postaxial hand polydactyly, Anencephaly, Abnormal rib morp... ORPHA:3380
Mucopolysaccharidosis, Type Vi
Metaphyseal widening, Pectus carinatum, Hypoplastic iliac wing, Broad ribs, Anterior wedging of L... OMIM:253200
Craniosynostosis, Herrmann-Opitz Type
Finger syndactyly, Craniosynostosis, Split hand, Abnormal rib morphology, Brachydactyly ORPHA:2145
Mucopolysaccharidosis Type 6
Epiphyseal dysplasia, Sinusitis, Ovoid vertebral bodies, Short neck, Kyphosis, Genu valgum, Broad... ORPHA:583
Mucolipidosis Iii Alpha/Beta
Soft tissue swelling of interphalangeal joints, Craniosynostosis, Irregular carpal bones, Split h... OMIM:252600
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities
Epiphyseal dysplasia, Brachydactyly, Metaphyseal dysplasia, Kyphoscoliosis, Coxa valga, Pectus ex... OMIM:617425
Pagod Syndrome
Encephalocele, Abnormal clavicle morphology, Spina bifida, Meningocele, Abnormal rib morphology ORPHA:991
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Sclerotic vertebral body, Kyphosis, Hydrocephalus, Metaphyseal widening, Diaphyseal sclerosis, Pe... OMIM:618476
Infant Acute Respiratory Distress Syndrome
Pneumonia, Abnormal thorax morphology, Tachypnea, Nasal flaring, Hypoxemia, Respiratory failure ORPHA:70587
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2
Epiphyseal dysplasia, Bowing of the long bones, Kyphoscoliosis, Pectus excavatum, Hypoplastic ili... OMIM:615349
Otospondylomegaepiphyseal Dysplasia
Enlarged joints, Short neck, Osteoarthritis, Abnormal iliac wing morphology, Tibial bowing, Abnor... ORPHA:1427
Brachyolmia Type 2
Platyspondyly OMIM:613678
Laryngotracheal Angioma
Respiratory distress, Intercostal retractions, Apnea, Wheezing, Stridor, Cough ORPHA:137935
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome
Platyspondyly, Abnormal intervertebral disk morphology, Osteoarthritis, Pulmonary embolism ORPHA:1345
Iniencephaly
Encephalocele, Rocker bottom foot, Spina bifida, Hyperlordosis, Myelomeningocele, Absent vertebra... ORPHA:63259
Gaucher Disease Type 2
Respiratory distress, Abnormal pattern of respiration, Cough ORPHA:77260
Frontometaphyseal Dysplasia 1
Carpal synostosis, Limited elbow movement, Knee flexion contracture, Increased density of long bo... OMIM:305620
Recurrent Respiratory Papillomatosis
Respiratory distress, Nonproductive cough, Wheezing, Tachypnea, Dyspnea, Upper airway obstruction... ORPHA:60032
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome
Hyperlordosis, Abnormal rib morphology, Pectus carinatum, Abnormal hip bone morphology, Clinodact... ORPHA:3068
Jacobsen Syndrome
Broad hallux phalanx, Finger syndactyly, Toe syndactyly, Spina bifida, Missing ribs, Short neck, ... ORPHA:2308
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence
Respiratory distress, Syndactyly, Neonatal respiratory distress, Proximal placement of thumb, Sho... OMIM:217980
Rhizomelic Dysplasia, Ain-Naz Type
Short humerus, Short femur, Hypoplasia of the femoral head, Wide distal femoral metaphysis, Platy... OMIM:619598
Ossification Anomalies-Psychomotor Developmental Delay Syndrome
Abnormal thorax morphology, Metaphyseal widening, Abnormal form of the vertebral bodies, Thin rib... ORPHA:73230
Neu-Laxova Syndrome 2
Finger syndactyly, Toe syndactyly, Rocker bottom foot, Spina bifida, Short neck, Scoliosis OMIM:616038
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities
Respiratory distress, Overlapping toe, Pectus carinatum, Scoliosis, Overlapping fingers, Delayed ... OMIM:619383
Congenital Disorder Of Glycosylation, Type Ig
Respiratory distress, Short humerus, Short femur, Sandal gap, Recurrent pneumonia, Hypoplasia of ... OMIM:607143
Otopalatodigital Syndrome Type 2
Encephalocele, Bowing of the long bones, Tarsal synostosis, Short hallux, Camptodactyly of finger... ORPHA:90652
Sillence Syndrome
Back pain, Large iliac wing, Abnormal vertebral morphology, Large tarsal bones, Flat acetabular r... ORPHA:3168
Prune Belly Syndrome
Congenital hip dislocation, Pectus excavatum, Abnormal rib morphology, Vertebral segmentation def... ORPHA:2970
Chondroectodermal Dysplasia With Night Blindness
Abnormality of the knee, Epiphyseal dysplasia, Metaphyseal dysplasia, Fractures of the long bones... ORPHA:319195
Restrictive Dermopathy 2
Respiratory distress, Overtubulated long bones, Short clavicles OMIM:619793
Morquio Syndrome C
Platyspondyly OMIM:252300
Severe Acute Respiratory Syndrome
Respiratory distress, Respiratory failure requiring assisted ventilation, Dyspnea, Hypoxemia, Acu... ORPHA:140896
Congenital Disorder Of Glycosylation, Type Iu
Respiratory distress, Neonatal respiratory distress, Scoliosis OMIM:615042
Hall-Riggs Syndrome
Metaphyseal dysplasia, Kyphosis, Irregular vertebral endplates, Platyspondyly, Scoliosis, Brachyd... OMIM:234250
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Abnormal rib morphology ORPHA:2772
Alagille Syndrome
Hypoplasia of the ulna, Abnormal rib morphology, Abnormal form of the vertebral bodies, Vertebral... ORPHA:52
Cryptogenic Organizing Pneumonia
Respiratory distress, Bronchial breath sound, Crackles, Nonproductive cough, Dyspnea, Wheezing, P... ORPHA:1302
Holzgreve Syndrome
Abnormally ossified vertebrae, Abnormal morphology of ulna, Abnormal rib morphology, Hand polydac... ORPHA:2167
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Respiratory distress, Respiratory insufficiency due to muscle weakness OMIM:300580
Multiple Pterygium Syndrome, X-Linked
Joint dislocation, Vertebral fusion, Abnormal cervical curvature, Multiple pterygia, Thin ribs, S... OMIM:312150
Renpenning Syndrome
Pectus excavatum, Abnormal thumb morphology, Abnormal rib morphology, Clinodactyly of the 5th fin... ORPHA:3242
Spondyloenchondrodysplasia With Immune Dysregulation
Barrel-shaped chest, Metaphyseal dysplasia, Lumbar hyperlordosis, Pneumonia, Kyphoscoliosis, Shor... OMIM:607944
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive
Epiphyseal dysplasia, Lumbar hyperlordosis, Enlarged joints, Large tarsal bones, Recurrent pneumo... OMIM:215150
Craniometadiaphyseal Dysplasia
Broad long bones, Coxa valga, Cubitus valgus, Wide anterior fontanel, Flared metaphysis, Genu val... OMIM:269300
Cardiomyopathy, Dilated, 1Gg
Respiratory distress OMIM:613642
Rhizomelic Dysplasia, Patterson-Lowry Type
Short humerus, Short metacarpal, Short metatarsal, Coxa vara, Deformed humeral heads, Platyspondy... OMIM:601438
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3
Short metacarpal, Camptodactyly of finger, Kyphoscoliosis, Tapered finger, Flat capital femoral e... OMIM:612350
Zttk Syndrome
Craniosynostosis, Kyphosis, Rib fusion, Hemivertebrae, Small hand, Short foot, Cervical ribs, Sco... OMIM:617140
Autosomal Recessive Kenny-Caffey Syndrome
Stenosis of the medullary cavity of the long bones, Thin clavicles, Small hand, Thin ribs, Short ... ORPHA:93324
Multiple Synostoses Syndrome 1
Hypoplastic spinal processes, Symphalangism affecting the phalanges of the hand, Cutaneous finger... OMIM:186500
Synaptic Congenital Myasthenic Syndromes
Respiratory distress, Hypoventilation, Scapular winging, Neonatal respiratory distress, Abnormali... ORPHA:98915
Cardiospondylocarpofacial Syndrome
Tarsal synostosis, Rib fusion, Cone-shaped epiphysis, Fused cervical vertebrae, Pseudoepiphyses, ... OMIM:157800
Vacterl With Hydrocephalus
Absence of the sacrum, Spina bifida, Aqueductal stenosis, Hydrocephalus, Hypoplasia of the radius... ORPHA:3412
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Bulging epiphyses, Enlargement of the ankles, Bowing of the legs, Enlargement of the costochondra... OMIM:600081
Aminopterin/Methotrexate Embryofetopathy
Encephalocele, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Hydrocephalus, Meningocele, An... ORPHA:1908
Moebius Syndrome
Respiratory distress, Syndactyly, Brachydactyly, Short neck, Split hand, Abnormal pelvic girdle b... OMIM:157900
Slc39A13-Related Spondylodysplastic Ehlers-Danlos Syndrome
Tapered finger, Flat capital femoral epiphysis, Flattened epiphysis, Platyspondyly, Short femoral... ORPHA:157965
Spondyloepimetaphyseal Dysplasia, Sponastrime Type
Brachydactyly, Lumbar hyperlordosis, Kyphoscoliosis, Flat capital femoral epiphysis, Laryngotrach... OMIM:271510
Neurofibromatosis, Type I
Spina bifida, Pectus excavatum, Aqueductal stenosis, Hydrocephalus, Tibial pseudarthrosis, Genu v... OMIM:162200
Autosomal Recessive Stickler Syndrome
Epiphyseal dysplasia, Genu valgum, Irregular vertebral endplates, Platyspondyly, Abnormal epiphys... ORPHA:250984
Gm1 Gangliosidosis Type 1
Spatulate ribs, Pectus carinatum, Hypoplastic vertebral bodies, Platyspondyly, Flared iliac wing,... ORPHA:79255
Diabetic Embryopathy
Vertebral segmentation defect, Hydrocephalus, Spinal dysraphism, Abnormal sacrum morphology ORPHA:1926
Succinic Acidemia
Respiratory distress OMIM:600335
Campomelia, Cumming Type
Bowing of the long bones, Abnormally ossified vertebrae, Abnormal thorax morphology, Abnormal rib... ORPHA:1318
Vacterl/Vater Association
Occipital encephalocele, Finger syndactyly, Abnormal intervertebral disk morphology, Preaxial han... ORPHA:887
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Respiratory distress, Bronchiectasis, Abnormal mucociliary clearance OMIM:619466
Multiple Pterygium Syndrome, Lethal Type
Joint dislocation, Vertebral fusion, Abnormal cervical curvature, Multiple pterygia, Thin ribs, S... OMIM:253290
Hereditary Pulmonary Alveolar Proteinosis
Respiratory distress, Respiratory failure requiring assisted ventilation, Crackles, Tachypnea, Ac... ORPHA:264675
Sirenomelia
Absence of the sacrum, Aplasia/Hypoplasia of the radius, Spina bifida, Sirenomelia ORPHA:3169
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Hypoplasia of the ulna, Thoracic hypoplasia, Metaphyseal spurs, Postaxial polydactyly, Lateral cl... OMIM:613091
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Short neck, Multiple joint dislocation, Pectus carinatum, Knee dislocation, Shoulder dislocation,... OMIM:245600
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Kyphosis, Platyspondyly ORPHA:2786
Short Chain Acyl-Coa Dehydrogenase Deficiency
Respiratory distress ORPHA:26792
Bruck Syndrome
Bowing of the long bones, Kyphosis, Respiratory insufficiency, Platyspondyly, Scoliosis, Wormian ... ORPHA:2771
Tetraamelia-Multiple Malformations Syndrome
Abnormally ossified vertebrae, Missing ribs, Hydrocephalus, Abnormal rib morphology, Aplasia/Hypo... ORPHA:3301
Short-Rib Thoracic Dysplasia 12
Short palm, Hypoplastic scapulae, Short neck, Bowing of the legs, Hydrocephalus, Short thorax, An... OMIM:269860
Koolen-De Vries Syndrome Due To A Point Mutation
Joint dislocation, Prominent fingertip pads, Sacral dimple, Anomaly of lower limb diaphyses, Arac... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Joint dislocation, Prominent fingertip pads, Sacral dimple, Anomaly of lower limb diaphyses, Arac... ORPHA:363958
Mucopolysaccharidosis, Type Iiib
Thickened ribs, Ovoid thoracolumbar vertebrae OMIM:252920
Hurler Syndrome
Abnormal clavicle morphology, Camptodactyly of finger, Short neck, Hydrocephalus, Abnormality of ... ORPHA:93473
Mucopolysaccharidosis, Type Iiic
Beaking of vertebral bodies, Thickened ribs, Ovoid thoracolumbar vertebrae, Kyphoscoliosis OMIM:252930
Oculocerebrocutaneous Syndrome
Finger syndactyly, Congenital hip dislocation, Missing ribs, Aplasia/Hypoplasia of the distal pha... ORPHA:1647
Pulmonary Non-Tuberculous Mycobacterial Infection
Respiratory distress, Crackles, Dyspnea, Chronic pulmonary obstruction, Pneumothorax, Bronchiecta... ORPHA:411703
Kenny-Caffey Syndrome, Type 1
Long clavicles, Delayed closure of the anterior fontanelle, Thin clavicles, Small hand, Thin ribs... OMIM:244460
Congenital Myasthenic Syndrome
Neuropathic spinal arthropathy, Congenital hip dislocation, Sudden episodic apnea, Kyphoscoliosis... ORPHA:590
Presynaptic Congenital Myasthenic Syndromes
Neuropathic spinal arthropathy, Congenital hip dislocation, Sudden episodic apnea, Kyphoscoliosis... ORPHA:98914
Familial Osteodysplasia, Anderson Type
Aplastic clavicle, Missing ribs, Elbow dislocation, Kyphosis, Abnormal rib morphology, Abnormal f... ORPHA:2769
Schwartz-Jampel Syndrome
Apnea, Short neck, Coxa vara, Pectus carinatum, Wrist flexion contracture, Abnormally ossified ve... ORPHA:800
Brown-Vialetto-Van Laere Syndrome 1
Respiratory distress, Respiratory failure requiring assisted ventilation, Kyphosis, Dyspnea, Resp... OMIM:211530
Trisomy 13
Kyphosis, Postaxial hand polydactyly, Abnormal rib morphology, Abnormal pelvic girdle bone morpho... ORPHA:3378
Camptodactyly Syndrome, Guadalajara Type 3
Short neck, Abnormal rib morphology, Small hand, Short foot, Spina bifida occulta, Thickened cort... ORPHA:488434
Multiple Pterygium-Malignant Hyperthermia Syndrome
Finger syndactyly, Prominent metopic ridge, Arachnodactyly, Camptodactyly of finger, Tapered fing... ORPHA:2215
Spondylo-Ocular Syndrome
Platyspondyly, Abnormal intervertebral disk morphology, Thoracic kyphosis, Short neck ORPHA:85194
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency
Respiratory distress, Respiratory failure requiring assisted ventilation, Ventilator dependence w... ORPHA:254864
Van Den Ende-Gupta Syndrome
Glenoid fossa hypoplasia, Lateral clavicle hook, 2-3 toe cutaneous syndactyly, Femoral bowing, Kn... OMIM:600920
Respiratory Distress Syndrome In Premature Infants
Respiratory distress, Dyspnea, Neonatal respiratory distress, Tachypnea OMIM:267450
Osteoglophonic Dysplasia
Respiratory distress, Short metacarpal, Hypoplastic scapulae, Bowing of the long bones, Camptodac... OMIM:166250
Antley-Bixler Syndrome
Arachnodactyly, Camptodactyly of finger, Craniosynostosis, Abnormal rib morphology, Femoral bowin... ORPHA:83
Dental Anomalies And Short Stature
Platyspondyly, Herniation of intervertebral nuclei, Scoliosis, Narrow vertebral interpedicular di... OMIM:601216
Pallister-Hall Syndrome
Hemivertebrae, Holoprosencephaly, Mesoaxial polydactyly, Radial bowing, Rib fusion, Respiratory i... ORPHA:672
Laryngomalacia
Respiratory distress, Congenital laryngeal stridor OMIM:150280
X-Linked Myotubular Myopathy-Abnormal Genitalia Syndrome
Respiratory insufficiency, Thin ribs ORPHA:456328
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Limited elbow movement, Increased intervertebral space, Narrow greater sciatic notch, Cervical co... ORPHA:508533
Cloacal Exstrophy
Spina bifida, Myelomeningocele, Abnormal tibia morphology, Hemivertebrae, Hip dislocation, Abnorm... ORPHA:93929
Malaria
Respiratory distress ORPHA:673
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Lateral clavicle hook, Preaxial hand polydactyly, Postaxial hand polydactyly, Pectus carinatum, D... OMIM:263520
Combined Oxidative Phosphorylation Deficiency 47
Toe syndactyly, Short neck, Platyspondyly, Cone-shaped epiphyses of the distal phalanges of the h... OMIM:618958
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Encephalocele, Postaxial polydactyly, Unicoronal synostosis, Squared iliac bones, Preaxial polyda... OMIM:616300
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
Large placenta, Coat hanger sign of ribs, Umbilical hernia, Thoracic hypoplasia ORPHA:254534
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy
Respiratory distress, Tapered finger, Hip dysplasia, Finger joint hypermobility, Scoliosis, Metac... ORPHA:544503
Cartilage-Hair Hypoplasia
Metaphyseal dysplasia, Lumbar hyperlordosis, Flaring of lower rib cage, Hypoplasia of the odontoi... OMIM:250250
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development
Hypoplasia of the ulna, Short femur, Absent thumb, Fibular hypoplasia, Aplasia/Hypoplasia of the ... OMIM:612447
Staphylococcal Necrotizing Pneumonia
Respiratory distress, Pneumonia, Nonproductive cough, Dyspnea, Tachypnea, Pneumothorax, Acute inf... ORPHA:36238
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Respiratory distress ORPHA:91130
Stuve-Wiedemann Syndrome 1
Enlarged joints, Apnea, Short neck, Femoral bowing, Tibial bowing, Knee flexion contracture, Shor... OMIM:601559
Mucopolysaccharidosis-Plus Syndrome
Respiratory distress, Short neck, Pectus excavatum, Metaphyseal widening, Recurrent pneumonia, Cl... OMIM:617303
Stickler Syndrome Type 1
Abnormal vertebral epiphysis morphology, Platyspondyly, Osteoarthritis, Abnormal epiphysis morpho... ORPHA:90653
Shprintzen-Goldberg Craniosynostosis Syndrome
Genu recurvatum, Arachnodactyly, Craniosynostosis, Lateral clavicle hook, Pectus excavatum, Wide ... OMIM:182212
Auriculocondylar Syndrome 2A
Respiratory distress, Apnea OMIM:614669
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Bell-shaped thorax, Pulmonary arterial hypertension, Tachypnea, Horizontal ribs OMIM:614857
Rubinstein-Taybi Syndrome 1
Respiratory distress, Hypoplastic iliac wing, Clinodactyly of the 5th finger, Prominent fingertip... OMIM:180849
Chronic Pneumonitis Of Infancy
Respiratory distress, Intercostal retractions, Reduced forced vital capacity, Tachypnea, Hypoxemi... ORPHA:91359
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Respiratory distress, Respiratory insufficiency due to muscle weakness OMIM:613561
Congenital Disorder Of Glycosylation, Type Ie
Respiratory distress, Ankle flexion contracture, Small hand, Upper limb undergrowth, Knee flexion... OMIM:608799
Occipital Horn Syndrome
Short humerus, Persistent open anterior fontanelle, Pelvic bone exostoses, Broad clavicles, Pectu... OMIM:304150
Mosaic Trisomy 8
Camptodactyly of finger, Short neck, Patellar aplasia, Abnormal rib morphology, Narrow pelvis bon... ORPHA:96061
Myopathy And Diabetes Mellitus
Respiratory distress ORPHA:2596
Blomstrand Lethal Chondrodysplasia
Short metacarpal, Bowing of the long bones, Aplastic clavicle, Short thorax, Flared metaphysis, P... ORPHA:50945
Gm1-Gangliosidosis, Type I
Thickened ribs, Short neck, Kyphosis, Hypoplastic vertebral bodies, Scoliosis, Beaking of vertebr... OMIM:230500
Eiken Syndrome
Broad femoral neck, Delayed epiphyseal ossification, Long thumb, Flat acetabular roof, Fibular hy... OMIM:600002
Avian Influenza
Respiratory distress, Pneumonia, Productive cough, Nonproductive cough, Dyspnea, Tachypnea, Pneum... ORPHA:454836
Mitochondrial Pyruvate Carrier Deficiency
Respiratory distress OMIM:614741
Pyknoachondrogenesis
Hypoplastic ischia, Short iliac bones, Short thorax, Abnormal iliac wing morphology, Poorly ossif... ORPHA:3003
Interstitial Pneumonitis, Desquamative, Familial
Respiratory distress, Respiratory failure, Tachypnea, Cough OMIM:263000
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant
Respiratory distress, Thoracic scoliosis, Knee contracture, Respiratory failure, Chylothorax, Joi... OMIM:620278
Surfactant Metabolism Dysfunction, Pulmonary, 2
Respiratory distress, Nonspecific interstitial pneumonia, Spontaneous pneumothorax, Reduced force... OMIM:610913
X-Linked Hypophosphatemia
Shortening of the talar neck, Bowing of the long bones, Craniosynostosis, Beaded ribs, Bowing of ... ORPHA:89936
Schimke Immunoosseous Dysplasia
Lumbar hyperlordosis, Ovoid vertebral bodies, Short neck, Dyspnea, Platyspondyly, Thoracic kyphos... OMIM:242900
Surfactant Metabolism Dysfunction, Pulmonary, 3
Respiratory distress, Neonatal respiratory distress, Nonspecific interstitial pneumonia, Apnea, D... OMIM:610921
22Q11.2 Deletion Syndrome
Arachnodactyly, Spina bifida, Short neck, Abnormal thorax morphology, Hydrocephalus, Meningocele,... ORPHA:567
Kagami-Ogata Syndrome
Long clavicles, Kyphoscoliosis, Coxa valga, Long fingers, Thin ribs, Bell-shaped thorax, Pulmonar... OMIM:608149
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Neonatal respiratory distress, Posterior rib fusion, Syringomyelia, Neonatal death, Pulmonary art... OMIM:265380
Sacral Defect With Anterior Meningocele
Back pain, Absence of the sacrum, Myeloschisis, Hemisacrum, Tethered cord, Myelomeningocele, Hydr... OMIM:600145
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6
Respiratory distress, Paradoxical respiration, Plantar flexion contracture OMIM:620011
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Short neck, Hemivertebrae, Pectus carinatum, Femoral bowing, Foot oligodactyly, Aplasia/Hypoplasi... OMIM:276820
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Lumbar hyperlordosis, Arachnodactyly, Kyphoscoliosis, Absent thumb, Sagittal craniosynostosis, Ri... ORPHA:500150
Spondylodysplastic Ehlers-Danlos Syndrome
Joint dislocation, Metaphyseal widening, Abnormal finger morphology, Pectus carinatum, Abnormal v... ORPHA:536471
Acrorenal-Mandibular Syndrome
Hypoplasia of the ulna, Hypoplastic scapulae, Toe syndactyly, Kyphoscoliosis, Missing ribs, Split... OMIM:200980
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Respiratory distress, Postaxial polydactyly, Postaxial hand polydactyly, Aplasia of the epiglotti... OMIM:617088
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion
Long toe, Overlapping toe, Pectus excavatum, Large placenta, Respiratory failure, Prominent stern... ORPHA:254528
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Hypoplasia of the ulna, Lateral clavicle hook, Early ossification of capital femoral epiphyses, R... OMIM:208500
Xylt1-Cdg
Joint dislocation, Coxa valga, Flared metaphysis, Short long bone, Short femoral neck, Short clav... ORPHA:370930
Trisomy 1Q
Toe syndactyly, Arachnodactyly, Camptodactyly of finger, Preaxial hand polydactyly, Hydrocephalus... ORPHA:261344
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development
Slender long bone, Brachydactyly, Craniosynostosis, Thin ribs OMIM:618265
Ulbright-Hodes Syndrome
Respiratory distress, Short humerus, Short metacarpal, Short neck, Pneumothorax, Abnormal rib mor... ORPHA:3404
Combined Oxidative Phosphorylation Deficiency 30
Respiratory distress OMIM:616974
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1
Absence of the sacrum, Tethered cord, Butterfly vertebrae, Spinal dysraphism OMIM:617660
Vertebral Hypersegmentation And Orofacial Anomalies
Pectus excavatum, Scapular winging, Supernumerary ribs, Six lumbar vertebrae OMIM:619122
Episodic Ataxia Type 1
Respiratory distress, Kyphoscoliosis, Scoliosis ORPHA:37612
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type
Shortening of all metacarpals, Wide anterior fontanel, Shortening of all phalanges of fingers, Pl... OMIM:601356
Ellis-Van Creveld Syndrome
Capitate-hamate fusion, Postaxial hand polydactyly, Pectus carinatum, Postaxial foot polydactyly,... OMIM:225500
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Respiratory distress ORPHA:240085
Congenital Pulmonary Lymphangiectasia
Respiratory distress, Chronic pulmonary obstruction, Cough, Pulmonary arterial hypertension, Pleu... ORPHA:2414
Osteogenesis Imperfecta
Cervical kyphosis, Abnormal tibia morphology, Osteoarthritis, Abnormal femur morphology, Abnormal... ORPHA:666
Gracile Bone Dysplasia
Hydrocephalus, Flared metaphysis, Thin ribs, Slender long bone, Brachydactyly OMIM:602361
Gm1-Gangliosidosis, Type Ii
Coxa valga, Hypoplastic vertebral bodies, Platyspondyly, Scoliosis, Thoracolumbar kyphosis, Beaki... OMIM:230600
X-Linked Centronuclear Myopathy
Respiratory distress, Respiratory failure requiring assisted ventilation, Pneumonia ORPHA:596
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Barrel-shaped chest, Respiratory distress, Lumbar hyperlordosis, Short neck, Hydrocephalus, Pectu... ORPHA:505248
Craniofaciofrontodigital Syndrome
Respiratory distress, Dyspnea, Pectus carinatum, Scoliosis, Finger joint hypermobility, Pulmonary... ORPHA:363705
Sclerosteosis 1
Syndactyly, Sclerotic scapulae, Broad clavicles, 2-3 finger syndactyly, Deviation of finger, Abno... OMIM:269500
Farber Disease
Respiratory distress, Abnormality of the knee, Short toe, Abnormality of the elbow, Respiratory i... ORPHA:333
Lethal Congenital Contracture Syndrome 5
Respiratory insufficiency, Thin ribs OMIM:615368
Autosomal Dominant Popliteal Pterygium Syndrome
Finger syndactyly, Toe syndactyly, Split hand, Abnormal rib morphology, Popliteal pterygium, Scol... ORPHA:1300
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type
Short fourth metatarsal, Short metacarpal, Overlapping toe, Thoracolumbar scoliosis, Craniosynost... OMIM:616723
Folinic Acid-Responsive Seizures
Respiratory distress, Apnea ORPHA:79097
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Respiratory distress, Neonatal respiratory distress, Crackles, Asthma, Tachypnea, Wheezing, Hypox... OMIM:610978
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Respiratory distress OMIM:612075
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi
Tethered cord, Sandal gap, Macrodactyly, Spinal dysraphism, Scoliosis OMIM:612918
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome
Cone-shaped epiphysis, Platyspondyly ORPHA:71267
Pfeiffer Syndrome Type 2
Respiratory distress, Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Short hallux, Hall... ORPHA:93259
Meconium Aspiration Syndrome
Respiratory distress, Neonatal asphyxia, Wheezing, Pneumothorax, Hypoxemia, Aspiration pneumonia,... ORPHA:70588
Congenital Lobar Emphysema
Respiratory distress, Emphysema ORPHA:1928
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Sinusitis, Pneumonia, Anterior rib cupping, Horizontal inferior border of scapula, Asthma, Recurr... OMIM:102700
Monosomy 9Q22.3
Short neck, Pectus excavatum, Kyphosis, Hydrocephalus, Abnormal rib morphology, Abnormality of th... ORPHA:77301
Severe Congenital Nemaline Myopathy
Abnormal thorax morphology, Adducted thumb, Respiratory failure, Thin ribs ORPHA:171430
Ear-Patella-Short Stature Syndrome
Respiratory distress, Camptodactyly of finger, Aplastic clavicle, Craniosynostosis, Elbow disloca... ORPHA:2554
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Femoral bowing, Narrow chest, Abnormality of the wrist, Abnormal vertebral morphology, Elbow anky... ORPHA:95699
Familial Nasal Acilia
Respiratory distress, Dyspnea, Bronchiectasis, Chronic rhinitis, Chronic sinusitis ORPHA:922
Lowry-Wood Syndrome
Epiphyseal dysplasia, Brachydactyly, Elbow dislocation, Coxa vara, Irregular epiphyses, Platyspon... ORPHA:1824
Autosomal Dominant Centronuclear Myopathy
Respiratory insufficiency due to muscle weakness, Neonatal asphyxia, Thin ribs ORPHA:169189
Phakomatosis Pigmentokeratotica
Spina bifida, Scoliosis ORPHA:2874
Lethal Congenital Contracture Syndrome 10
Thoracic scoliosis, Overlapping fingers, Short neck, Femoral bowing, Short long bone, Narrow ches... OMIM:617022
Neu-Laxova Syndrome
Pterygium, Spina bifida, Scoliosis ORPHA:2671
Progressive Supranuclear Palsy-Corticobasal Syndrome
Respiratory distress ORPHA:240103
Amish Lethal Microcephaly
Spina bifida ORPHA:99742
Schinzel-Giedion Syndrome
Respiratory distress, Abnormal clavicle morphology, Short neck, Tibial bowing, Broad ribs, Wide a... ORPHA:798
Acute Lung Injury
Respiratory distress, Pneumonia, Dyspnea, Tachypnea, Hypoxemia, Respiratory failure ORPHA:178320
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Respiratory distress, Delayed epiphyseal ossification, Abnormal epiphysis morphology, Umbilical h... ORPHA:226313
Osteogenesis Imperfecta, Type Vii
Multiple rib fractures, Crumpled long bones, Wide cranial sutures, Protrusio acetabuli, Femoral r... OMIM:610682
Lissencephaly Syndrome, Norman-Roberts Type
Respiratory distress, Rocker bottom foot, Adducted thumb ORPHA:89844
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Hypoplastic pubic ramus, Proximal placement of thumb, Short neck, Short metatarsal, Patellar hypo... OMIM:609945
Kagami-Ogata Syndrome
Respiratory failure requiring assisted ventilation, Kyphoscoliosis, Short neck, Coxa valga, Large... ORPHA:254519
Diamond-Blackfan Anemia 10
Respiratory distress, Supernumerary ribs OMIM:613309
Neu-Laxova Syndrome 1
Finger syndactyly, Toe syndactyly, Rocker bottom foot, Spina bifida, Short neck, Long fingers, Cl... OMIM:256520
Idiopathic Neonatal Atrial Flutter
Respiratory distress, Tachypnea ORPHA:45452
Anaplastic Thyroid Carcinoma
Respiratory distress, Dyspnea, Upper airway obstruction, Stridor, Cough ORPHA:142
Osteopathia Striata With Cranial Sclerosis
Apnea, Arachnodactyly, Tracheomalacia, Delayed closure of the anterior fontanelle, Pectus excavat... OMIM:300373
Spondyloenchondrodysplasia
Metaphyseal dysplasia, Pneumonia, Bowing of the legs, Hypoplastic ilia, Kyphosis, Pectus carinatu... ORPHA:1855
Mogs-Cdg
Respiratory distress, Hypoventilation, Thoracic scoliosis, Apnea, Overlapping fingers ORPHA:79330
Occipital Horn Syndrome
Coxa vara, Pectus carinatum, Humerus varus, Narrow chest, Short palm, Large iliac wing, Abnormali... ORPHA:198
Fryns Microphthalmia Syndrome
Neural tube defect, Abnormality of the vertebral column OMIM:600776
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Postaxial polydactyly, Short neck, Lateral clavicle hook, Wide anterior fontanel, Preaxial polyda... OMIM:617925
Pseudo-Torch Syndrome 2
Pleural effusion, Acute respiratory distress syndrome, Respiratory insufficiency, Thin ribs OMIM:617397
Coccidioidomycosis
Respiratory distress, Pneumonia, Hydrocephalus, Abnormal long bone morphology, Arthritis, Abnorma... ORPHA:228123
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Thin ribs OMIM:614833
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Respiratory distress, Respiratory failure, Tachypnea, Respiratory insufficiency OMIM:614299
N-Acetylglutamate Synthase Deficiency
Respiratory distress OMIM:237310
Ollier Disease
Platyspondyly, Abnormal metaphysis morphology ORPHA:296
Geroderma Osteodysplasticum
Hyperextensibility of the finger joints, Kyphoscoliosis, Vertebral compression fracture, Femoral ... OMIM:231070
Alpha-Mannosidosis, Infantile Form
Communicating hydrocephalus, Thickened ribs, Pneumonia, Craniosynostosis, Short neck, Pectus exca... ORPHA:309282
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1
Joint dislocation, Congenital hip dislocation, Arachnodactyly, Protrusio acetabuli, Kyphoscoliosi... OMIM:225400
Myhre Syndrome
Vertebral fusion, Overlapping toe, Short neck, Short toe, 2-3 toe syndactyly, Respiratory insuffi... OMIM:139210
Fanconi Anemia
Finger syndactyly, Hypoplasia of the ulna, Toe syndactyly, Abnormal morphology of ulna, Spina bif... ORPHA:84
Nipah Virus Disease
Respiratory distress, Cough ORPHA:99825
Tularemia
Respiratory distress, Pleural effusion, Pneumonia, Cough ORPHA:3392
Fibrous Dysplasia Of Bone
Abnormal clavicle morphology, Abnormal morphology of the radius, Bowing of the long bones, Abnorm... ORPHA:249
Spondyloocular Syndrome
Long toe, Arachnodactyly, Femur fracture, Overlapping toe, Long fingers, Pectus carinatum, Shield... OMIM:605822
Mgat2-Cdg
Respiratory distress, Pectus excavatum, Kyphosis, Scoliosis, Brachydactyly ORPHA:79329
Lenz-Majewski Hyperostotic Dwarfism
Hyperextensibility of the finger joints, Syndactyly, Broad clavicles, Aplasia/Hypoplasia of the m... OMIM:151050
Thyroid Lymphoma
Respiratory distress, Dyspnea, Stridor, Upper airway obstruction ORPHA:97285
Coenzyme Q10 Deficiency, Primary, 8
Respiratory distress OMIM:616733
Gaucher Disease, Perinatal Lethal
Respiratory distress, Apnea, Neonatal death, Thoracic hypoplasia OMIM:608013
Congenital Laryngeal Web
Respiratory distress, Stridor ORPHA:2374
Cerebrocostomandibular Syndrome
Rib gap, 10 pairs of ribs, 11 pairs of ribs, Neonatal respiratory distress, Anomalous rib inserti... OMIM:117650
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive
Respiratory distress, Lymphocytic interstitial pneumonia OMIM:245590
Osteoporosis-Pseudoglioma Syndrome
Barrel-shaped chest, Kyphoscoliosis, Kyphosis, Metaphyseal widening, Tibial bowing, Platyspondyly... OMIM:259770
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria
Respiratory distress, Short neck, Metaphyseal widening, Irregular vertebral endplates, Metaphysea... ORPHA:99646
Holoprosencephaly
Encephalocele, Short neck, Hydrocephalus, Spinal cord tumor, Abnormal form of the vertebral bodie... ORPHA:2162
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe
Bifid sternum, Supraumbilical raphe OMIM:140850
Nestor-Guillermo Progeria Syndrome
Wide cranial sutures, Limited elbow movement, Delayed closure of the anterior fontanelle, Dyspnea... OMIM:614008
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
Arachnodactyly, Pectus excavatum, Thin metatarsal cortices, Thin ribs, Slender long bone, Lumbar ... ORPHA:2463
Ciliary Dyskinesia, Primary, 2
Respiratory distress, Sinusitis, Bronchiectasis, Immotile cilia, Ciliary dyskinesia OMIM:606763
Paternal 20Q13.2Q13.3 Microdeletion Syndrome
Respiratory distress ORPHA:261304
Dextrocardia
Hydrocephalus, Congenital hip dislocation, Abnormal rib morphology ORPHA:1666
Myhre Syndrome
Brachydactyly, Abnormal rib morphology, Platyspondyly, Abnormal epiphysis morphology, Short palm,... ORPHA:2588
Pfeiffer Syndrome Type 3
Respiratory distress, Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Short hallux, Hall... ORPHA:93260
Craniotubular Dysplasia, Ikegawa Type
Metaphyseal dysplasia, Increased intervertebral space, Broad ischia, Diaphyseal dysplasia, Platys... OMIM:619727
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Respiratory distress, Hypoventilation, Prominent metopic ridge, Apnea, Recurrent pneumonia, Polyd... ORPHA:314655
Choanal Atresia
Respiratory distress, Craniosynostosis, Upper airway obstruction, Polydactyly, Tracheomalacia, Ch... ORPHA:137914
Arterial Tortuosity Syndrome
Respiratory distress, Arachnodactyly, Rocker bottom foot, Craniosynostosis, Coxa valga, Avascular... ORPHA:3342
Weill-Marchesani Syndrome 1
Lumbar hyperlordosis, Spinal canal stenosis, Scoliosis, Broad phalanges of the hand, Broad ribs, ... OMIM:277600
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Short neck, Delayed epiphyseal ossification, Preaxial polydactyly, Knee flexion contracture, Femo... OMIM:210710
Agnathia-Otocephaly Complex
Respiratory distress, Holoprosencephaly, Tracheomalacia OMIM:202650
8Q24.3 Microdeletion Syndrome
Branchial cyst, Respiratory distress, Thoracic scoliosis, Congenital hip dislocation, Short femur... ORPHA:508488
Hall-Riggs Syndrome
Platyspondyly, Abnormal epiphysis morphology, Scoliosis, Abnormal metaphysis morphology, Brachyda... ORPHA:2107
Mucopolysaccharidosis, Type Iiid
Epiphyseal dysplasia, Pilonidal sinus, Thoracic scoliosis, Thickened ribs, Short neck, Ovoid thor... OMIM:252940
Premature Aging Syndrome, Penttinen Type
Brachydactyly, Hyperextensibility of the knee, Tibial bowing, Thin ribs, Slender long bone, Short... OMIM:601812
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Respiratory distress ORPHA:289916
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted
Respiratory distress, Sacral dimple, Postaxial polydactyly, Tapered finger, Small hand, Hip dislo... OMIM:300968
Mitochondrial Complex Iv Deficiency, Nuclear Type 2
Respiratory distress, Inspiratory stridor, Irregular respiration OMIM:604377
Autosomal Recessive Malignant Osteopetrosis
Bowing of the long bones, Apnea, Craniosynostosis, Hydrocephalus, Abnormal rib morphology, Narrow... ORPHA:667
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Respiratory distress, Long clavicles, Arachnodactyly, Overlapping toe, Contracture of the distal ... ORPHA:83617
Gm1 Gangliosidosis
Camptodactyly of finger, Hyperlordosis, Kyphosis, Abnormal form of the vertebral bodies, Platyspo... ORPHA:354
Dysosteosclerosis
Hypoplastic vertebral bodies, Irregular vertebral endplates, Platyspondyly, Abnormal metaphysis m... ORPHA:1782
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Respiratory distress ORPHA:79312
Primary Dystonia, Dyt4 Type
Respiratory distress, Kyphoscoliosis ORPHA:98805
Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema
Respiratory distress, Upper airway obstruction ORPHA:100057
Infantile Liver Failure Syndrome 3
Abnormal acetabulum morphology, Abnormality of the epiphysis of the femoral head, Hypoplastic ver... OMIM:618641
Acquired Methemoglobinemia
Respiratory distress, Dyspnea, Hypoxemia ORPHA:464453
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy
Respiratory distress, Scoliosis ORPHA:329178
Osteogenesis Imperfecta, Type Xvii
Bowed humerus, Kyphoscoliosis, Hip dislocation, Platyspondyly, Syringomyelia, Vertebral compressi... OMIM:616507
Slc35A1-Cdg
Respiratory distress, Pneumonia, Hypoxemia ORPHA:238459
Oculocerebrofacial Syndrome, Kaufman Type
Respiratory distress, Dyspnea, Respiratory failure, Arachnodactyly ORPHA:2707
Hypoglossia With Situs Inversus
Respiratory distress, Upper airway obstruction OMIM:612776
Chromosome 6Q24-Q25 Deletion Syndrome
Respiratory distress, Sandal gap, Hydrocephalus, Small hand, Prominent fingertip pads OMIM:612863
Muscular Dystrophy, Congenital, With Or Without Seizures
Respiratory distress, Respiratory failure OMIM:620166
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Respiratory distress ORPHA:927
Doors Syndrome
11 pairs of ribs, Respiratory distress, Aplasia/Hypoplasia of the phalanges of the 2nd toe, Sagit... ORPHA:79500
Calvarial Doughnut Lesions With Bone Fragility
Platyspondyly, Scoliosis, Femoral bowing OMIM:126550
Carnitine Deficiency, Systemic Primary
Respiratory distress OMIM:212140
Constricting Bands, Congenital
Encephalocele, Syndactyly, Abnormal rib cage morphology, Hand polydactyly, Scoliosis OMIM:217100
Weill-Marchesani Syndrome 2
Short metacarpal, Lumbar hyperlordosis, Short metatarsal, Spinal canal stenosis, Elbow flexion co... OMIM:608328
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum
Tethered cord, Spina bifida, Scoliosis, Tapered finger OMIM:619480
Fructose-1,6-Bisphosphatase Deficiency
Respiratory distress, Intermittent hyperventilation, Episodic tachypnea, Dyspnea, Apneic episodes... ORPHA:348
Schimke Immuno-Osseous Dysplasia
Lumbar hyperlordosis, Wide capital femoral epiphyses, Ovoid vertebral bodies, Short neck, Abnorma... ORPHA:1830
Isolated Atp Synthase Deficiency
Respiratory distress ORPHA:254913
Stt3B-Cdg
Respiratory distress ORPHA:370924
Congenital Disorder Of Glycosylation, Type Ix
Respiratory distress OMIM:615597
Nasolacrimal Duct Cyst
Intercostal retractions, Episodic respiratory distress, Stridor, Paroxysmal dyspnea, Abnormal bre... ORPHA:141083
Mucopolysaccharidosis Type 3
Abnormal clavicle morphology, Avascular necrosis of the capital femoral epiphysis, Hydrocephalus,... ORPHA:581
Isolated Posterior Meningocele
Tethered cord, Thoracic hemivertebrae, Hydrocephalus, Lipomyelomeningocele, Meningocele, Neural t... ORPHA:268810
Lumbar Syndrome
Myelomeningocele, Spina bifida ORPHA:83628
Simpson-Golabi-Behmel Syndrome
Vertebral fusion, Finger syndactyly, Congenital hip dislocation, Toe syndactyly, Camptodactyly of... ORPHA:373
Marshall Syndrome
Radial bowing, Coxa valga, Hypoplastic ilia, Ulnar bowing, Knee osteoarthritis, Irregular femoral... OMIM:154780
Fetal Akinesia Deformation Sequence 1
Hip contracture, Rocker bottom foot, Camptodactyly of finger, Short neck, Hydrocephalus, Thin rib... OMIM:208150
Schinzel-Giedion Midface Retraction Syndrome
Sacrococcygeal teratoma, Long clavicles, Increased density of long bones, Short neck, Wide distal... OMIM:269150
Holocarboxylase Synthetase Deficiency
Respiratory distress, Tachypnea ORPHA:79242
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies
Tapered finger, Hyperlordosis, Hip dislocation, Genu valgum, Hip dysplasia, Umbilical hernia, Bro... OMIM:301066
Sponastrime Dysplasia
Delayed epiphyseal ossification, Metaphyseal widening, Osteopathia striata, Coxa vara, Ivory epip... ORPHA:93357
Arboleda-Tham Syndrome
Respiratory distress, Neonatal respiratory distress, Brachydactyly, Sandal gap, Deviation of the ... OMIM:616268
Agnathia-Holoprosencephaly-Situs Inversus Syndrome
Respiratory distress, Holoprosencephaly ORPHA:990
Mercury Poisoning
Respiratory distress, Dyspnea, Respiratory failure, Interstitial pneumonitis ORPHA:330021
Esophageal Atresia
Respiratory distress, Clinodactyly, Episodic respiratory distress, Chronic pulmonary obstruction,... ORPHA:1199
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome
Respiratory distress, Umbilical hernia, Hydrocephalus, Craniosynostosis ORPHA:1555
Japanese Encephalitis
Respiratory distress, Hyperintensity of MRI T2 signal of the spinal cord, Genu recurvatum, Paucit... ORPHA:79139
Congenital Tracheomalacia
Neonatal respiratory distress, Apnea, Intercostal retractions, Pneumonia, Productive cough, Dyspn... ORPHA:95430
Biotinidase Deficiency
Respiratory distress, Myelopathy, Apnea, Hyperventilation ORPHA:79241
Osteopetrosis, Autosomal Recessive 7
Multiple rib fractures, Hydrocephalus, Recurrent pneumonia, Femur fracture OMIM:612301
Tetanus
Respiratory distress, Tachypnea ORPHA:3299
Stüve-Wiedemann Syndrome
Respiratory distress, Sacral dimple, Bowing of the long bones, Apnea, Camptodactyly of finger, As... ORPHA:3206
Multiple Acyl-Coa Dehydrogenase Deficiency
Respiratory distress, Wide anterior fontanel, Neonatal death OMIM:231680
Triosephosphate Isomerase Deficiency
Respiratory distress, Respiratory insufficiency due to muscle weakness, Kyphosis, Respiratory ins... OMIM:615512
Mitochondrial Complex I Deficiency, Nuclear Type 37
Respiratory distress, Pulmonary arterial hypertension OMIM:619272
Myotonic Dystrophy 1
Respiratory distress OMIM:160900
Prader-Willi Syndrome Due To Translocation
Respiratory distress, Overlapping toe, Short neck, Small hand, Short foot, Clinodactyly of the 5t... ORPHA:177907
Smith-Lemli-Opitz Syndrome
Finger syndactyly, Proximal placement of thumb, Short neck, Kyphosis, Postaxial hand polydactyly,... ORPHA:818
Combined Oxidative Phosphorylation Deficiency 19
Respiratory distress, Stridor OMIM:615595
Bone Fragility With Contractures, Arterial Rupture, And Deafness
Contracture of the proximal interphalangeal joint of the 2nd finger, Elbow flexion contracture, P... OMIM:612394
Monosomy 9P
Proximal placement of thumb, Short neck, Abnormality of the tarsal bones, Postaxial hand polydact... ORPHA:261112
Infantile Krabbe Disease
Respiratory distress, Respiratory failure, Ankle clonus ORPHA:206436
Mandibulofacial Dysostosis, Guion-Almeida Type
Respiratory distress, Preaxial hand polydactyly, Slender finger, Proximal placement of thumb OMIM:610536
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Respiratory distress, Respiratory failure, Respiratory insufficiency due to muscle weakness, Exer... OMIM:220110
Beare-Stevenson Cutis Gyrata Syndrome
Respiratory distress, Overlapping toe, Craniosynostosis, Hydrocephalus, Limited elbow extension OMIM:123790
Spondyloepimetaphyseal Dysplasia, Genevieve Type
Short neck, Flared metaphysis, Advanced ossification of carpal bones, Flat acetabular roof, Irreg... OMIM:610442
Stickler Syndrome
Joint dislocation, Arachnodactyly, Protrusio acetabuli, Kyphosis, Osteoarthritis, Hip dislocation... ORPHA:828
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Respiratory distress, Respiratory insufficiency ORPHA:367
Developmental And Epileptic Encephalopathy 68
Respiratory distress OMIM:618201
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Respiratory distress, Tachypnea, Pneumonia, Episodic tachypnea ORPHA:26793
Inhalational Anthrax
Respiratory distress, Dyspnea ORPHA:247257
Mucopolysaccharidosis Type 2, Severe Form
Thickened ribs, Camptodactyly of finger, Diaphyseal thickening, Spinal cord compression, Spinal c... ORPHA:217085
Fryns Syndrome
Rocker bottom foot, Proximal placement of thumb, Short neck, Short thumb, Thin ribs, Stillbirth, ... OMIM:229850
Bacterial Toxic-Shock Syndrome
Respiratory distress, Sinusitis, Pneumonia, Tachypnea, Arthritis, Septic arthritis ORPHA:36234
Odontochondrodysplasia 2 With Hearing Loss And Diabetes
Asthma, Short toe, Cone-shaped epiphyses of the phalanges of the hand, Platyspondyly, Scoliosis, ... OMIM:619269
Mucopolysaccharidosis Type 2, Attenuated Form
Thickened ribs, Camptodactyly of finger, Diaphyseal thickening, Spinal cord compression, Spinal c... ORPHA:217093
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Respiratory distress OMIM:251000
Adnp Syndrome
Respiratory distress, Broad hallux, Sandal gap, Abnormal toe morphology, Abnormal finger morpholo... ORPHA:404448
Congenital Alveolar Capillary Dysplasia
Respiratory distress, Pulmonary arterial hypertension, Abnormal vertebral morphology ORPHA:210122
Oculocerebrorenal Syndrome Of Lowe
Kyphosis, Abnormal rib morphology, Hip dislocation, Respiratory insufficiency, Genu valgum, Arthr... ORPHA:534
Glycogen Storage Disease Due To Acid Maltase Deficiency
Respiratory distress, Orthopnea, Hyperlordosis, Respiratory insufficiency due to muscle weakness,... ORPHA:365
Neurodegeneration And Seizures Due To Copper Transport Defect
Respiratory distress, Short tibia, Pneumothorax, Short femur OMIM:620306
Neuromuscular Oculoauditory Syndrome
Respiratory distress, Aspiration, Wrist flexion contracture, Knee flexion contracture OMIM:618733
Heterotaxy, Visceral, 1, X-Linked
Respiratory distress, Absence of the sacrum, Congenital hip dislocation, Block vertebrae, Aqueduc... OMIM:306955
Brain-Lung-Thyroid Syndrome
Respiratory distress, Neonatal respiratory distress, Asthma, Recurrent pneumonia, Respiratory fai... ORPHA:209905
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis
Respiratory distress OMIM:606164
Hereditary Acrokeratotic Poikiloderma
Finger syndactyly, Camptodactyly of finger, Abnormal rib morphology, Abnormal hip bone morphology... ORPHA:2907
Cryptococcosis
Respiratory distress, Pneumonia, Dyspnea, Hydrocephalus, Cough, Pleural effusion ORPHA:1546
Congenital Enterovirus Infection
Respiratory distress, Pleural effusion ORPHA:292
3-Methylglutaconic Aciduria, Type Viib
Respiratory distress, Recurrent pneumonia OMIM:616271
Oromandibular Dystonia
Respiratory distress ORPHA:93958
Charge Syndrome
Aqueductal stenosis, Abnormal tibia morphology, Abnormal rib morphology, Hemivertebrae, Respirato... ORPHA:138
Cranioectodermal Dysplasia 2
Syndactyly, Craniosynostosis, Short neck, Pectus excavatum, Postaxial hand polydactyly, Recurrent... OMIM:613610
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Respiratory distress, Respiratory failure requiring assisted ventilation, Respiratory insufficien... ORPHA:308552
Idiopathic Hypereosinophilic Syndrome
Respiratory distress, Swelling of proximal interphalangeal joints, Ankle swelling, Pulmonary embo... ORPHA:3260
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Respiratory distress, Umbilical hernia, Cervical ribs ORPHA:2255
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Respiratory distress, Pulmonary embolism, Atrophy of the spinal cord, Hydrocephalus, Pulmonary ar... ORPHA:79282
Lujo Hemorrhagic Fever
Respiratory distress, Nonproductive cough, Rhinitis, Crackles ORPHA:319213
Hemorrhagic Fever-Renal Syndrome
Back pain, Respiratory distress, Pneumonia, Epistaxis, Dyspnea, Respiratory failure, Cough, Pleur... ORPHA:340
Alagille Syndrome 1
Hypoplasia of the ulna, Abnormal rib morphology, Hemivertebrae, Butterfly vertebral arch, Short d... OMIM:118450
Cardiomyopathy, Familial Hypertrophic, 4
Respiratory distress, Dyspnea OMIM:115197
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Respiratory distress ORPHA:438216
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Respiratory distress, Short humerus, Short femur, Apnea, Polydactyly ORPHA:17
Scimitar Syndrome
Respiratory distress, Pneumothorax, Abnormality of the vertebral column, Cough, Pulmonary arteria... ORPHA:185
Complete Atrioventricular Septal Defect
Intercostal retractions, Crackles, Wheezing, Tachypnea, Recurrent pneumonia, Elevated pulmonary a... ORPHA:1329
Oculopharyngodistal Myopathy 1
Respiratory distress, Hypercapnia, Reduced forced vital capacity, Respiratory insufficiency due t... OMIM:164310
Fontaine Progeroid Syndrome
Syndactyly, Craniosynostosis, Wide anterior fontanel, Hydrocephalus, Pneumothorax, Respiratory in... OMIM:612289
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome
Respiratory distress, Respiratory acidosis, Neonatal respiratory distress, Narrow chest OMIM:614748
Sepsis In Premature Infants
Abnormal respiratory system physiology, Dyspnea, Nasal flaring, Abnormal mucociliary clearance ORPHA:90051
Congenital Disorder Of Deglycosylation 1
Respiratory distress, Short foot, Small hand, Scoliosis OMIM:615273
Pachyonychia Congenita
Respiratory distress ORPHA:2309
Mandibuloacral Dysplasia Progeroid Syndrome
Sandal gap, Delayed cranial suture closure, Decreased fibular diameter, Pectus excavatum, Osteoly... OMIM:619127
Cocaine Intoxication
Respiratory distress, Wheezing, Tachypnea, Pneumothorax, Cough, Hyperventilation ORPHA:90068
Osteogenesis Imperfecta, Type Iv
Biconcave flattened vertebrae, Kyphosis, Scoliosis, Wormian bones, Femoral bowing present at birt... OMIM:166220
Auriculocondylar Syndrome
Respiratory distress ORPHA:137888
Glycogen Storage Disease Of Heart, Lethal Congenital
Respiratory distress, Pleural effusion, Hydrocephalus, Apnea OMIM:261740
Hereditary Angioedema Type 1
Respiratory distress, Dyspnea, Inspiratory stridor ORPHA:100050
Lymphatic Malformation 7
Respiratory distress, Pleural effusion, Chylothorax OMIM:617300
Listeriosis
Back pain, Respiratory distress, Pneumonia, Respiratory failure, Septic arthritis ORPHA:533
Rodrigues Blindness
Nasal flaring OMIM:268320
Restrictive Dermopathy
Thoracic kyphoscoliosis, Aplasia/Hypoplasia of the clavicles, Camptodactyly of finger, Thin clavi... ORPHA:1662
Alternating Hemiplegia Of Childhood
Respiratory distress, Aspiration, Apnea ORPHA:2131
Kindler Epidermolysis Bullosa
Finger syndactyly, Camptodactyly of finger, Abnormal rib morphology, Short 4th metacarpal, Short ... ORPHA:2908
Methylmalonic Aciduria, Cblb Type
Respiratory distress OMIM:251110
Q Fever
Respiratory distress, Pleural effusion, Pneumonia, Cough ORPHA:781
Nocardiosis
Respiratory distress, Pneumonia, Productive cough, Nonproductive cough, Dyspnea, Pneumothorax, Pl... ORPHA:31204
Exstrophy-Epispadias Complex
Abnormal joint morphology, Hydrocephalus, Spina bifida ORPHA:322
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability
Respiratory distress, Hallux valgus, Sacral dimple, Congenital hip dislocation, Overlapping toe, ... ORPHA:480880
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Respiratory distress, Interstitial pneumonitis, Pneumonia ORPHA:37042
Generalized Arterial Calcification Of Infancy
Respiratory distress, Abnormality of the knee, Stippled calcification of the shoulder, Abnormal c... ORPHA:51608
Methylmalonic Aciduria, Cbla Type
Respiratory distress OMIM:251100
Townes-Brocks Syndrome
Broad hallux phalanx, Toe syndactyly, Preaxial hand polydactyly, Partial duplication of thumb pha... ORPHA:857
Microphthalmia With Linear Skin Defects Syndrome
Respiratory distress, Sacral dimple, Dyspnea, Hydrocephalus, Respiratory failure ORPHA:2556
Wiedemann-Rautenstrauch Syndrome
Long toe, Short humerus, Short femur, Pneumonia, Delayed closure of the anterior fontanelle, Shor... OMIM:264090
Toxic Epidermal Necrolysis
Respiratory distress, Restrictive ventilatory defect, Cough ORPHA:537
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Respiratory distress, Neonatal respiratory distress, Apnea, Hypopnea OMIM:618426
Colchicine Poisoning
Respiratory distress, Cardiorespiratory arrest ORPHA:31824
Thrombotic Thrombocytopenic Purpura, Hereditary
Respiratory distress OMIM:274150
Charge Syndrome
Hypoplasia of the ulna, Down-sloping shoulders, Absent radius, Short thumb, Absent tibia, Radial ... OMIM:214800
Ramos-Arroyo Syndrome
Respiratory distress ORPHA:1051
Severe Generalized Junctional Epidermolysis Bullosa
Respiratory distress, Pneumonia, Abnormal fingertip morphology, Dyspnea, Pneumothorax, Stridor, R... ORPHA:79404
Ethylene Glycol Poisoning
Tachypnea, Episodic respiratory distress, Abnormal pattern of respiration ORPHA:31826
Congenital Total Pulmonary Venous Return Anomaly
Respiratory distress, Respiratory failure requiring assisted ventilation, Paroxysmal dyspnea, Apn... ORPHA:99125
Mitochondrial Dna-Associated Leigh Syndrome
Dyspnea, Episodic respiratory distress, Apnea, Hyperventilation ORPHA:255210
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Respiratory distress OMIM:256810
Osteopetrosis With Renal Tubular Acidosis
Pectus excavatum, Pulmonary arterial hypertension, Prominent floating ribs ORPHA:2785
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome
Asthma, Nasal flaring, Brachydactyly, Short palm ORPHA:466943
Congenital Tracheal Stenosis
Respiratory distress, Neonatal asphyxia, Wheezing, Dyspnea, Upper airway obstruction ORPHA:141127
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked
Respiratory distress, Rhinitis OMIM:305100
Tuberous Sclerosis Complex
Respiratory distress, Respiratory failure, Noncommunicating hydrocephalus ORPHA:805
Lowe Oculocerebrorenal Syndrome
Camptodactyly of finger, Wrist swelling, Kyphosis, Hip dislocation, Genu valgum, Platyspondyly, F... OMIM:309000
Gitelman Syndrome
Respiratory distress, Chondrocalcinosis, Gout ORPHA:358
Kasabach-Merritt Syndrome
Respiratory distress, Hypopnea ORPHA:2330
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Respiratory distress OMIM:617156
Eisenmenger Syndrome
Respiratory distress, Increased pulmonary vascular resistance, Wheezing, Clubbing, Hypoxemia, Pul... ORPHA:97214
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Abnormal pelvis bone morphology, Camptodactyly of finger, Kyphosis, Platyspondyly, Abnormality of... ORPHA:2273
Aortic Arch Interruption
Respiratory distress, Tachypnea, Exertional dyspnea ORPHA:2299
Isolated Arrhinia
Respiratory distress ORPHA:1134
Aspartylglucosaminuria
Kyphosis, Platyspondyly, Spondylolysis, Scoliosis, Beaking of vertebral bodies, Spondylolisthesis OMIM:208400
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Respiratory distress, Respiratory failure requiring assisted ventilation, Pneumonia, Rhinitis, Co... ORPHA:95455
Plague
Respiratory distress, Arthritis, Abnormality of the elbow, Acute infectious pneumonia ORPHA:707
Leptospirosis
Respiratory distress, Pleural effusion, Cough ORPHA:509
Alström Syndrome
Respiratory distress, Thoracic scoliosis, Kyphosis, Short toe, Chronic pulmonary obstruction, Rec... ORPHA:64
Pmm2-Cdg
Respiratory distress, Kyphoscoliosis, Long fingers, Platyspondyly, Aspiration pneumonia ORPHA:79318

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 Mdfi

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 Mdfi.

There are 1 publication which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
A Genome-Wide Screen in Mice To Identify Cell-Extrinsic Regulators of Pulmonary Metastatic Colonisation. G3 (Bethesda, Md.) (June 2020) Mdficem1(IMPC)Wtsi PMC7263671

Order Mouse and ES Cells

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

MGI Allele Allele Type Produced
Mdfitm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Mdfitm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells
Mdfitm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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