Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
myogenic factor 6
Synonyms:
bHLHc4,  MRF4,  herculin

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Myf6 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.

The table below shows human diseases associated to Myf6 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Autosomal Dominant Centronuclear Myopathy
Proximal muscle weakness in upper limbs, Thin ribs, Calf muscle hypertrophy, Abnormality of the f... ORPHA:169189

The table below shows human diseases predicted to be associated to Myf6 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Costocoracoid Ligament, Congenitally Short
Abnormal scapula morphology, Down-sloping shoulders, Abnormality of the shoulder girdle musculature OMIM:122580
Thoracomelic Dysplasia
Short ribs, Bell-shaped thorax OMIM:273740
Cervical Rib
Cervical ribs OMIM:117900
Thoracic Dysostosis, Isolated
Short ribs, Bell-shaped thorax, Pectus excavatum OMIM:187750
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly
Lateral clavicle hook, Narrow chest, Short ribs, Postaxial hand polydactyly, Acetabular spurs, De... OMIM:617405
Poland Syndrome
Unilateral hypoplasia of pectoralis major muscle, Hypoplasia of latissimus dorsi muscle, Hypoplas... OMIM:173800
Spondylocostal Dysostosis 3, Autosomal Recessive
Supernumerary vertebral ossification centers, Scoliosis, Vertebral segmentation defect, Kyphosis,... OMIM:609813
Metatropic Dysplasia
Narrow greater sciatic notch, Kyphoscoliosis, Relatively short spine, Short ribs, Long coccyx, Cu... OMIM:156530
Neurogenic Thoracic Outlet Syndrome
Abnormal rib morphology ORPHA:100073
Thoracopelvic Dysostosis
Short ribs OMIM:187770
Spondylocostal Dysostosis 2, Autosomal Recessive
Hemivertebrae, Vertebral segmentation defect, Vertebral clefting, Rib fusion, Short neck OMIM:608681
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia
Kyphoscoliosis, Delayed pubic bone ossification, Proximal placement of thumb, Hypoplastic iliac w... OMIM:613330
Ophthalmoplegia, External, With Rib And Vertebral Anomalies
Torticollis, Pectus carinatum, Scoliosis, Short ribs, Pectus excavatum, Missing ribs, Pseudoarthr... OMIM:618155
Thoracolaryngopelvic Dysplasia
Bell-shaped thorax, Hypoplastic iliac wing, Scoliosis, Short ribs, Hypoplastic pelvis, Irregular ... OMIM:187760
Thoracomelic Dysplasia
Abnormal metaphysis morphology, Abnormal fibula morphology, Diaphyseal undertubulation, Genu valg... ORPHA:1803
Spondylocostal Dysostosis 1, Autosomal Recessive
Kyphoscoliosis, Abnormal odontoid process morphology, Hemivertebrae, Vertebral segmentation defec... OMIM:277300
Kyphomelic Dysplasia
Abnormal metaphysis morphology, Lateral clavicle hook, Narrow chest, Abnormal form of the vertebr... ORPHA:1801
Infantile-Onset X-Linked Spinal Muscular Atrophy
Kyphoscoliosis, Ankle flexion contracture, Weakness of facial musculature, Inflammatory myopathy,... ORPHA:1145
Spondylocostal Dysostosis 5
Butterfly vertebrae, Pectus carinatum, Scoliosis, Hemivertebrae, Missing ribs, Supernumerary ribs... OMIM:122600
Fibrochondrogenesis 2
Bell-shaped thorax, Metaphyseal cupping, Hypoplastic pubic bone, Short long bone, Short ribs, Cup... OMIM:614524
Chondrodysplasia, Blomstrand Type
Stillbirth, Abnormal vertebral morphology, Narrow chest, Flared metaphysis, Generalized osteoscle... OMIM:215045
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Short long bone, Short ribs, Flat acetabular roof, Hypoplastic ischia, Dumbbell-shaped long bone,... OMIM:151210
Thanatophoric Dysplasia, Type Ii
Platyspondyly, Narrow chest, Short greater sciatic notch, Flared metaphysis, Wide-cupped costocho... OMIM:187601
Diaphanospondylodysostosis
Absent or minimally ossified vertebral bodies, Respiratory distress, Short thorax, Enlarged thora... ORPHA:66637
Spondylometaphyseal Dysplasia With Corneal Dystrophy
Beaking of vertebral bodies, Death in childhood, Lumbar platyspondyly, Narrow chest, Increased in... OMIM:618961
Axial Spondylometaphyseal Dysplasia
Narrow greater sciatic notch, Hypoplastic iliac wing, Delayed ossification of carpal bones, Short... ORPHA:168549
Fetal Akinesia Deformation Sequence 4
Rocker bottom foot, 11 pairs of ribs, Kyphosis, Camptodactyly, Prenatal death, Micrognathia, Neon... OMIM:618393
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Clinodactyly of the 5th finger, Finger syndactyly, Pectus carinatum, Scoliosis, Abnormal rib morp... ORPHA:3268
Becker Nevus Syndrome
Abnormal tibia morphology, Spina bifida occulta, Pectus carinatum, Scoliosis, Pectus excavatum, K... ORPHA:64755
Endosteal Hyperostosis, Worth Type
Diaphyseal undertubulation, Clavicular sclerosis, Sclerotic vertebral body, Abnormal cortical bon... ORPHA:2790
Schneckenbecken Dysplasia
Lateral clavicle hook, Stillbirth, Narrow chest, Snail-like ilia, Short ribs, Flat acetabular roo... OMIM:269250
Achondrogenesis Type 2
Abnormal bone ossification, Delayed pubic bone ossification, Narrow chest, Short long bone, Short... ORPHA:93296
Autosomal Dominant Spondylocostal Dysostosis
Spina bifida occulta, Short thorax, Scoliosis, Hyperlordosis, Vertebral segmentation defect, Miss... ORPHA:1797
Stuve-Wiedemann Syndrome 2
Stillbirth, Respiratory distress, Scoliosis, Short long bone, Bowing of the long bones, Camptodac... OMIM:619751
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Death in childhood, Wide distal femoral metaphysis, Bell-shaped thorax, Delayed epiphyseal ossifi... OMIM:613320
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome
Abnormal rib morphology ORPHA:2435
Spondyloepimetaphyseal Dysplasia, Shohat Type
Narrow greater sciatic notch, Short ribs, Metaphyseal irregularity, Joint hypermobility, Genu var... OMIM:602557
Achondrogenesis, Type Ib
Absent or minimally ossified vertebral bodies, Stillbirth, Narrow chest, Short ribs, Hypoplastic ... OMIM:600972
Heart Defects-Limb Shortening Syndrome
Abnormal metaphysis morphology, Narrow chest, Abnormal form of the vertebral bodies, Mesomelic/rh... ORPHA:1354
Sprengel Deformity
Cervical segmentation defect, Spina bifida occulta, Scoliosis, Hemivertebrae, Shoulder muscle hyp... OMIM:184400
Lethal Recessive Chondrodysplasia
Narrow chest, Respiratory distress, Short long bone, Flared elbow metaphyses, Micromelia, Microgn... ORPHA:1423
Spondylometaphyseal Dysplasia, Type A4
Narrow greater sciatic notch, Sclerotic humeral metaphysis, Costochondral joint sclerosis, Enlarg... OMIM:609052
Thanatophoric Dysplasia, Type I
Platyspondyly, Narrow chest, Short greater sciatic notch, Flared metaphysis, Wide-cupped costocho... OMIM:187600
Fibrochondrogenesis 1
Narrow greater sciatic notch, Short ribs, Short long bone, Hypoplastic ischia, Dumbbell-shaped lo... OMIM:228520
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Lateral clavicle hook, Hypoplasia of the radius, Narrow chest, Respiratory distress, Short ribs, ... OMIM:617895
Dysosteosclerosis
Short ribs, Broad femoral neck, Hypoplastic vertebral bodies, Delayed closure of the anterior fon... OMIM:224300
Autosomal Recessive Spondylocostal Dysostosis
Congenital diaphragmatic hernia, Abnormal intervertebral disk morphology, Spina bifida occulta, A... ORPHA:2311
Achondrogenesis, Type Ia
Hypoplastic sacrum, Broad clavicles, Abnormal hand bone ossification, Short ribs, Decreased skull... OMIM:200600
Femoral-Facial Syndrome
Abnormal fibula morphology, Scoliosis, Vertebral segmentation defect, Abnormal pelvic girdle bone... ORPHA:1988
Metatropic Dysplasia
Abnormal metaphysis morphology, Clinodactyly of the 5th finger, Abnormal intervertebral disk morp... ORPHA:2635
Three M Syndrome 1
Increased vertebral height, Clinodactyly of the 5th finger, Joint dislocation, Slender long bone,... OMIM:273750
Seckel Syndrome 4
Steep acetabular roof, 11 pairs of ribs OMIM:613676
Hypophosphatasia, Infantile
Stillbirth, Unossified vertebral bodies, Metaphyseal cupping, Short ribs, Vertebral clefting, Mic... OMIM:241500
Lethal Congenital Contracture Syndrome 3
Multiple joint contractures, Skeletal muscle atrophy, Neonatal death, Arthrogryposis multiplex co... OMIM:611369
Achondrogenesis, Type Ii
Short tubular bones of the hand, Stillbirth, Barrel-shaped chest, Hypoplastic iliac wing, Short r... OMIM:200610
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness
Short long bone, Short ribs, Cupped ribs, Metaphyseal irregularity, Joint hypermobility, Genu var... OMIM:250420
Spondylocostal Dysostosis 4, Autosomal Recessive
Abnormal odontoid process morphology, Bell-shaped thorax, Spina bifida occulta, Short thorax, Sco... OMIM:613686
Bone Dysplasia, Lethal Holmgren Type
Abnormal thumb morphology, Abnormal femur morphology, Abnormal diaphysis morphology, Bell-shaped ... ORPHA:1842
Achondroplasia
Narrow greater sciatic notch, Femoral bowing, Short ribs, Trident hand, Death in infancy, Thoraci... OMIM:100800
Mesomelic Dysplasia, Kantaputra Type
Abnormal fibula morphology, Tarsal synostosis, Cubitus valgus, Clinodactyly of the 5th finger, Du... ORPHA:1836
Cerebrofaciothoracic Dysplasia
Narrow chest, Scoliosis, Hemivertebrae, Vertebral segmentation defect, Rib fusion, Sprengel anoma... ORPHA:1394
Fibrochondrogenesis
Abnormal metaphysis morphology, Abnormal diaphysis morphology, Bell-shaped thorax, Narrow chest, ... ORPHA:2021
Acrocapitofemoral Dysplasia
Cone-shaped epiphyses of the phalanges of the hand, Hypoplastic iliac wing, Delayed ossification ... OMIM:607778
Spondylometaphyseal Dysplasia, A4 Type
Limitation of joint mobility, Micromelia, Coxa vara, Short palm, Flared, irregular rib ends, Plat... ORPHA:168555
Pyknoachondrogenesis
Short iliac bones, Craniofacial hyperostosis, Abnormal iliac wing morphology, Short thorax, Muscu... ORPHA:3003
Congenital Myopathy 10A, Severe Variant
Respiratory distress, Scoliosis, Facial palsy, Pectus excavatum, EMG: myopathic abnormalities, Mu... OMIM:614399
Greenberg Dysplasia
Short long bone, Short ribs, Short metacarpal, Decreased skull ossification, Multiple prenatal fr... OMIM:215140
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Osteopenia, Platyspondyly, Flared metaphysis, Short ribs, Decreased skull ossification, Decreased... OMIM:616897
Lethal Kniest-Like Dysplasia
Abnormal ischium morphology, Narrow chest, Flared metaphysis, Mesomelic/rhizomelic limb shortenin... ORPHA:2347
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Preaxial polydactyly, Ulnar bowing, Vertebral wedging, 2-3 toe syndactyly, Short ribs, Missing ri... OMIM:617866
Dyssegmental Dysplasia, Rolland-Desbuquois Type
Narrow greater sciatic notch, Narrow chest, Short ribs, Short long bone, Bowing of the long bones... OMIM:224400
Bent Bone Dysplasia Syndrome 2
Osteopenia, Butterfly vertebrae, Ulnar bowing, Bowed humerus, Hypoplastic iliac wing, Hypoplastic... OMIM:620076
Odontochondrodysplasia 1
Biconvex vertebral bodies, Cone-shaped epiphyses of the phalanges of the hand, Pectus carinatum, ... OMIM:184260
Dyssegmental Dysplasia, Silverman-Handmaker Type
Narrow chest, Pterygium, Clubbing of fingers, Hypoplastic pubic bone, Miscarriage, Short long bon... ORPHA:1865
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Clinodactyly of the 5th finger, Abnormal form of the vertebral bodies, Respiratory distress, Hemi... ORPHA:2759
Basal Cell Nevus Syndrome 1
Polydactyly, Short 4th metacarpal, Kyphoscoliosis, Short distal phalanx of the thumb, Vertebral w... OMIM:109400
Atelosteogenesis Type Ii
Sandal gap, Tracheobronchomalacia, Short ribs, Short metacarpal, Short lower limbs, Dumbbell-shap... ORPHA:56304
Heyn-Sproul-Jackson Syndrome
11 pairs of ribs, Broad metacarpals, Short metacarpal, Short phalanx of finger, Broad phalanx OMIM:618724
Pallister-Hall-Like Syndrome
Short ribs, Postaxial hand polydactyly, Micromelia, Death in infancy, Micrognathia, Toe syndactyl... OMIM:241800
Spondyloepimetaphyseal Dysplasia, Irapa Type
Abnormal metaphysis morphology, Abnormal carpal morphology, Genu valgum, Platyspondyly, Short met... ORPHA:93351
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Lateral clavicle hook, Genu valgum, Bell-shaped thorax, Cone-shaped epiphyses of the phalanges of... OMIM:615630
Lethal Congenital Contracture Syndrome Type 1
Abnormal cortical bone morphology, Abnormal hip bone morphology, Abnormal form of the vertebral b... ORPHA:1486
Osteogenesis Imperfecta, Type Ix
Platyspondyly, Pectus carinatum, Scoliosis, Recurrent fractures, Pectus excavatum, Kyphosis, Decr... OMIM:259440
Cooper-Jabs Syndrome
Congenital diaphragmatic hernia, Reduced bone mineral density, Proximal placement of thumb, Abnor... ORPHA:1488
Odontochondrodysplasia
Abnormal metaphysis morphology, Square pelvis bone, Narrow chest, Respiratory distress, Scoliosis... ORPHA:166272
Isolated Klippel-Feil Syndrome
Abnormal shoulder morphology, Cervical C2/C3 vertebral fusion, Abnormality of the vertebral colum... ORPHA:2345
Gorlin Syndrome
Abnormal vertebral morphology, Vertebral wedging, Scoliosis, Hemivertebrae, Abnormal rib morpholo... ORPHA:377
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Narrow greater sciatic notch, Beaking of vertebral bodies, Mesomelic arm shortening, Cone-shaped ... OMIM:609616
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Rhizomelia, 11 pairs of ribs, Metaphyseal cupping, Hypoplastic iliac wing, Thin ribs, Hypoplasia ... OMIM:300863
Craniodiaphyseal Dysplasia
Diaphyseal undertubulation, Craniofacial hyperostosis, Abnormal rib morphology ORPHA:1513
Myotonia With Skeletal Abnormalities And Mental Retardation
Kyphoscoliosis, Genu valgum, Bell-shaped thorax, Vertebral wedging, Pectus carinatum, Skeletal mu... OMIM:255710
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Respiratory distress, Abnormal sternum morphology, Short ribs, Postaxial hand polydactyly, Abnorm... ORPHA:2519
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Abnormality of the cervical spine, Superior rib anomalies OMIM:307500
Prieto Syndrome
Radial deviation of finger, 11 pairs of ribs, Osteoporosis, Patellar dislocation, Patellar sublux... OMIM:309610
Spinal muscular atrophy, type I, with congenital bone fractures
Rocker bottom foot, Osteopenia, Acute infantile spinal muscular atrophy, Respiratory distress, Pe... OMIM:271225
Cleidocranial Dysplasia 1
Spondylolysis, Delayed pubic bone ossification, Spondylolisthesis, Cone-shaped epiphyses of the p... OMIM:119600
Multiple Pterygium Syndrome, Escobar Variant
Rocker bottom foot, Congenital diaphragmatic hernia, Dislocated radial head, Kyphosis, Arachnodac... OMIM:265000
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Muscular dystrophy, Spinal rigidity, Respiratory distress, Scoliosis, Calf muscle hypertrophy, Tr... ORPHA:86812
Poland Syndrome
Congenital diaphragmatic hernia, Aplasia of the pectoralis major muscle, Reduced bone mineral den... ORPHA:2911
Neurogenic Arthrogryposis Multiplex Congenita
Rocker bottom foot, Ankle flexion contracture, Respiratory distress, Scoliosis, Elbow flexion con... ORPHA:1143
Metaphyseal Chondrodysplasia, Schmid Type
Short tubular bones of the hand, Distal femoral metaphyseal irregularity, Femoral bowing, Short l... ORPHA:174
Mucolipidosis Iii Alpha/Beta
Carpal bone hypoplasia, Spondylolisthesis, Scoliosis, Short long bone, Short ribs, Split hand, Ky... OMIM:252600
Spondyloepimetaphyseal Dysplasia, Irapa Type
Limited elbow extension, Hypoplastic sacrum, Genu valgum, Enlargement of the costochondral juncti... OMIM:271650
Jeune Syndrome
Abnormal metaphysis morphology, Abnormal clavicle morphology, Narrow chest, Short thorax, Abnorma... ORPHA:474
Meier-Gorlin Syndrome 1
Absent sternal ossification, Pectus carinatum, Short ribs, Death in infancy, Joint hypermobility,... OMIM:224690
Hereditary Myopathy With Early Respiratory Failure
Muscle fiber splitting, Internally nucleated skeletal muscle fibers, Necrotizing myopathy, Calf m... ORPHA:178464
Congenital Diaphragmatic Hernia
Congenital diaphragmatic hernia, Aplasia/Hypoplasia of the diaphragm, Prominent sternum, Respirat... ORPHA:2140
Spondylometaphyseal Dysplasia, Axial
Narrow greater sciatic notch, Rhizomelia, Narrow chest, Scoliosis, Coxa vara, Anterior rib cuppin... OMIM:602271
Braddock Syndrome
Congenital muscular torticollis, Scoliosis, Hemivertebrae, Pectus excavatum, Missing ribs, Microg... ORPHA:52047
Craniodiaphyseal Dysplasia, Autosomal Dominant
Craniofacial hyperostosis, Diaphyseal sclerosis, Facial diplegia, Cortical sclerosis, Death in ad... OMIM:122860
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type
Pectus carinatum, Triangular shaped distal phalanges of the hand, Short long bone, Short ribs, Sh... OMIM:271665
Perching Syndrome
Scoliosis, Joint contracture, Camptodactyly, Respiratory distress OMIM:617055
Diastrophic Dysplasia
Proximal placement of thumb, Abnormal form of the vertebral bodies, Kyphosis, Joint stiffness, Sy... ORPHA:628
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type
Narrow greater sciatic notch, Limited elbow extension, Irregular epiphyses, Dysplastic iliac wing... OMIM:608728
Pelvis-Shoulder Dysplasia
Aplasia/hypoplasia of the femur, Long clavicles, Prominent protruding coccyx, Bell-shaped thorax,... ORPHA:2839
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Thin ribs, Short ribs, Scoliosis, Hemivertebrae, Missing ribs, Block vertebrae, Rib fusion, Short... OMIM:271520
Myotubular Myopathy With Abnormal Genital Development
Respiratory distress, Thin ribs, Death in infancy, Centrally nucleated skeletal muscle fibers, Ne... OMIM:300219
Nail-Patella Syndrome
Pectus excavatum, Patellar dislocation, Disproportionate prominence of the femoral medial condyle... OMIM:161200
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies
Hypoplastic distal segments of scapulae, Micrognathia, Pectus excavatum, Abnormal rib morphology OMIM:602196
Osteogenesis Imperfecta, Type X
Tibial bowing, Thoracic hypoplasia, Joint hypermobility, Broad ribs, Fibular bowing, Rhizomelia, ... OMIM:613848
Congenital Disorder Of Glycosylation, Type Iig
Kyphoscoliosis, Butterfly vertebrae, Osteopenia, Rhizomelia, Short long bone, Posterior rib gap, ... OMIM:611209
Spondylometaphyseal Dysplasia, Sedaghatian Type
Narrow greater sciatic notch, Cone-shaped epiphyses of the phalanges of the hand, Short ribs, Sho... OMIM:250220
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3
Hypoplasia of the ulna, Multiple joint dislocation, Carpal bone hypoplasia, Platyspondyly, Joint ... OMIM:618395
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly
Lateral clavicle hook, Preaxial polydactyly, Narrow chest, Femoral bowing, Short ribs, Short long... OMIM:615503
Spondylometaphyseal Dysplasia, Kozlowski Type
Narrow greater sciatic notch, Kyphoscoliosis, Cone-shaped epiphyses of the phalanges of the hand,... OMIM:184252
Dyggve-Melchior-Clausen Disease
Abnormal hip bone morphology, Abnormal femoral head morphology, Pectus carinatum, Short long bone... ORPHA:239
Grant Syndrome
Abnormal cortical bone morphology, Joint dislocation, Narrow chest, Joint hypermobility, Abnormal... ORPHA:2097
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
Beaking of vertebral bodies, Bifid ribs, Sacral dimple, Narrow chest, Hyperextensibility of the f... OMIM:213980
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Hypoplasia of the ulna, Lateral clavicle hook, Fibular hypoplasia, Preaxial polydactyly, Scoliosi... OMIM:613091
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Abnormal metaphysis morphology, Abnormal clavicle morphology, Platyspondyly, Proximal placement o... ORPHA:93267
Proximal 16P11.2 Microdeletion Syndrome
Congenital diaphragmatic hernia, Abnormal vertebral morphology, Scoliosis, Hand polydactyly, Micr... ORPHA:261197
Pontine Tegmental Cap Dysplasia
Ankle clonus, Scoliosis, Hemivertebrae, Facial palsy, Rib fusion OMIM:614688
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 2
Rhizomelia, 11 pairs of ribs, Narrow chest, Hemivertebrae, Vertebral segmentation defect OMIM:617661
Schneckenbecken Dysplasia
Abnormal metaphysis morphology, Diaphyseal undertubulation, Fibular hypoplasia, Lateral clavicle ... ORPHA:3144
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Kyphoscoliosis, Distal amyotrophy, Respiratory distress OMIM:619099
Kniest Dysplasia
Tibial bowing, Pectus excavatum, Hypoplastic pelvis, Dumbbell-shaped long bone, Dumbbell-shaped f... OMIM:156550
Hyperparathyroidism, Transient Neonatal
Osteopenia, Subperiosteal bone formation, Narrow chest, Respiratory distress, Thin ribs, Femoral ... OMIM:618188
Metaphyseal Chondrodysplasia, Jansen Type
Osteopenia, Clinodactyly of the 5th finger, Clubbing of fingers, Metaphyseal cupping, Short long ... OMIM:156400
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Lateral clavicle hook, Bell-shaped thorax, Narrow chest, Short long bone, Postaxial polydactyly, ... OMIM:615633
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Polydactyly, Narrow chest, Short long bone, Short ribs, Flat acetabular roof, Bowing of the long ... OMIM:614091
Lethal Congenital Contracture Syndrome 1
Widening of cervical spinal canal, Hypoplasia of the musculature, Micrognathia, Neonatal death, S... OMIM:253310
Isolated Congenital Hypoglossia/Aglossia
Aplasia/Hypoplasia of fingers, Micrognathia, Dyspnea, Respiratory distress ORPHA:141152
Thin Ribs-Tubular Bones-Dysmorphism Syndrome
Abnormal pelvic girdle bone morphology, Abnormal rib morphology, Slender long bone ORPHA:1506
Aicardi Syndrome
Butterfly vertebrae, Scoliosis, Missing ribs, Rib fusion, Supernumerary ribs, Block vertebrae, Bi... ORPHA:50
Van Den Ende-Gupta Syndrome
Dislocated radial head, Femoral bowing, Short ribs, Pectus excavatum, Arachnodactyly, Slender met... OMIM:600920
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Respiratory distress, Frontalis muscle weakness, Facial palsy, Type 1 fibers relatively smaller t... OMIM:300580
Hypersulfaturia
Costochondral pain OMIM:620372
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Aplasia of the distal phalanx of the 2nd finger, Stillbirth, Epiphyseal stippling, Finger syndact... OMIM:308050
Autosomal Recessive Multiple Pterygium Syndrome
Popliteal pterygium, Axillary pterygium, Multiple pterygia, Spina bifida occulta, Pterygium, Fing... ORPHA:2990
Myopathy And Diabetes Mellitus
Respiratory distress, Weakness of orbicularis oculi muscle, Skeletal myopathy, Sternocleidomastoi... ORPHA:2596
Diaphanospondylodysostosis
Absent in utero rib ossification, Hammertoe, Lumbosacral meningocele, Bell-shaped thorax, Tracheo... OMIM:608022
Spondyloepimetaphyseal Dysplasia, Strudwick Type
Narrow greater sciatic notch, Genu valgum, Delayed pubic bone ossification, Metaphyseal dappling,... OMIM:184250
Ellis-Van Creveld Syndrome
Genu valgum, Narrow chest, Hypoplastic iliac wing, Pectus carinatum, Short long bone, Short ribs,... OMIM:225500
Hypomyelination Neuropathy-Arthrogryposis Syndrome
Limitation of joint mobility, Respiratory distress ORPHA:2680
Blomstrand Lethal Chondrodysplasia
Platyspondyly, Rhizomelia, Narrow chest, Flared metaphysis, Metaphyseal cupping, Broad clavicles,... ORPHA:50945
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Rhizomelic leg shortening, Short ribs, Abnormal 5th metacarpal morphology, Thoracic hypoplasia, C... ORPHA:397715
Klippel-Feil Syndrome 1, Autosomal Dominant
Cervical C2/C3 vertebral fusion, Congenital muscular torticollis, Scoliosis, Abnormal rib morphol... OMIM:118100
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Hypoplasia of the ulna, Lateral clavicle hook, Fibular hypoplasia, Irregular epiphyses, Early oss... OMIM:208500
Osteogenesis Imperfecta, Type Xv
Platyspondyly, Scoliosis, Thin ribs, Joint hypermobility, Bowing of limbs due to multiple fractur... OMIM:615220
Pseudoachondroplasia
Short long bone, Short metacarpal, Kyphosis, Metaphyseal irregularity, Short distal phalanx of fi... OMIM:177170
Atelosteogenesis, Type I
Tibial bowing, Clubbing, Short metacarpal, Short humerus, Thoracic hypoplasia, Thoracic platyspon... OMIM:108720
Spondyloepiphyseal Dysplasia Congenita
Limited elbow movement, Delayed pubic bone ossification, Limitation of knee mobility, Delayed cal... OMIM:183900
Nemaline Myopathy 2
Spinal rigidity, Hyperlordosis, Sternocleidomastoid amyotrophy, Muscle fiber splitting, Calf musc... OMIM:256030
Spondyloepimetaphyseal Dysplasia, Missouri Type
Limited elbow extension, Platyspondyly, Rhizomelia, Small epiphyses, Ulnar bowing, Metaphyseal cu... OMIM:602111
Mosaic Trisomy 14
Narrow chest, Abnormal rib morphology, Camptodactyly of finger, Micrognathia, Short neck ORPHA:1703
Thoraco-Abdominal Enteric Duplication
Camptodactyly of finger, Missing ribs ORPHA:1759
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Abnormal clavicle morphology, Fused cervical vertebrae, Abnormal hip bone morphology, Hyperlordos... ORPHA:2522
Noonan Syndrome 12
Spinal canal stenosis, 11 pairs of ribs, Proximal placement of thumb, Pectus excavatum OMIM:618624
Aicardi Syndrome
Butterfly vertebrae, Proximal placement of thumb, Scoliosis, Hemivertebrae, Missing ribs, Rib fus... OMIM:304050
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2
Short neck, Vertebral segmentation defect, Abnormal rib morphology ORPHA:2578
Axial Mesodermal Dysplasia Spectrum
Congenital diaphragmatic hernia, Abnormal form of the vertebral bodies, Scoliosis, Vertebral segm... ORPHA:1834
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6
Plantar flexion contracture, Respiratory distress, Paradoxical respiration, Fiber type grouping, ... OMIM:620011
Myasthenic Syndrome, Congenital, 6, Presynaptic
Sudden episodic apnea, Respiratory distress, Apneic episodes precipitated by illness, fatigue, st... OMIM:254210
Holt-Oram Syndrome
Abnormal clavicle morphology, Triphalangeal thumb, Abnormal metacarpal morphology, Finger syndact... ORPHA:392
Congenital Myopathy 3 With Rigid Spine
Muscular dystrophy, Spinal rigidity, Type 1 muscle fiber predominance, Type 1 and type 2 muscle f... OMIM:602771
Myasthenic Syndrome, Congenital, 4A, Slow-Channel
Sudden episodic apnea, Respiratory distress, Apneic episodes precipitated by illness, fatigue, st... OMIM:605809
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Congenital diaphragmatic hernia, Abnormal femur morphology, Clinodactyly of the 5th finger, Finge... ORPHA:2141
Congenital Disorder Of Glycosylation, Type Ig
Hypoplasia of the radius, Butterfly vertebrae, Rhizomelia, Sandal gap, Respiratory distress, Shor... OMIM:607143
Weaver Syndrome
Radial deviation of finger, Hypoplastic iliac wing, Short ribs, Prominent fingertip pads, Limited... OMIM:277590
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods
Widening of cervical spinal canal, Fusion of midcervical facet joints, Dyspnea, Nemaline bodies, ... OMIM:606842
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Narrow greater sciatic notch, Stillbirth, Fibular hypoplasia, Preaxial polydactyly, Rhizomelia, B... OMIM:616300
Cdags Syndrome
Lambdoidal craniosynostosis, Short clavicles, Delayed cranial suture closure, Short ribs, Kyphosi... OMIM:603116
Juberg-Hayward Syndrome
Hypoplasia of the radius, Abnormality of the wrist, Abnormal vertebral morphology, Abnormal metac... ORPHA:2319
Thoracic Outlet Syndrome
Abnormal rib morphology ORPHA:97330
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant
Death in childhood, Abnormality of skeletal muscle fiber size, Weakness of facial musculature, Re... OMIM:620278
Severe X-Linked Mitochondrial Encephalomyopathy
Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Respiratory distress ORPHA:238329
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome
Abnormal form of the vertebral bodies, Hemivertebrae, Abnormal rib morphology, Abnormality of the... ORPHA:2234
Achondrogenesis Type 1B
Narrow chest, Short thorax, Abnormal rib morphology, Micromelia, Abnormal enchondral ossification... ORPHA:93298
Caudal Regression Syndrome
Aplasia/Hypoplasia of the sacrum, Abnormal iliac wing morphology, Scoliosis, Abnormal pelvic gird... ORPHA:3027
Dyggve-Melchior-Clausen Disease
Narrow greater sciatic notch, Multicentric ossification of proximal humeral epiphyses, Cone-shape... OMIM:223800
Lethal Osteosclerotic Bone Dysplasia
Respiratory distress, Delayed cranial suture closure, Dyspnea, Mandibular aplasia, Micrognathia, ... ORPHA:1832
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Narrow greater sciatic notch, Lateral clavicle hook, Fibular hypoplasia, Preaxial polydactyly, Na... OMIM:617925
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Short metatarsal, Sandal gap, Cone-shaped epiphyses of the phalanges of the hand, Short thorax, N... OMIM:617102
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Periostitis, Osteopenia, Fused cervical vertebrae, Respiratory distress, Flaring of rib cage, Ost... OMIM:612852
10Q22.3Q23.3 Microduplication Syndrome
Abnormal clavicle morphology, Microretrognathia, Abnormal rib morphology ORPHA:276422
Osteogenesis Imperfecta, Type Ii
Absent ossification of calvaria, Platyspondyly, Bell-shaped thorax, Crumpled long bones, Recurren... OMIM:166210
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Lateral clavicle hook, Platyspondyly, Disproportionate shortening of the tibia, Postaxial polysyn... OMIM:263520
Lymphangiectasia, Intestinal
Stillbirth, Prominent floating ribs OMIM:152800
Becker Nevus Syndrome
Scoliosis, Hemivertebrae, Pectus excavatum, Cervical ribs OMIM:604919
Short-Rib Thoracic Dysplasia 12
Short finger, Narrow chest, Short thorax, Short long bone, Short ribs, Short palm, Thoracic dyspl... OMIM:269860
Melnick-Needles Syndrome
Abnormal metaphysis morphology, Osteolytic defects of the phalanges of the hand, Abnormal cortica... ORPHA:2484
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome
Clinodactyly of the 5th finger, Abnormal hip bone morphology, Craniofacial hyperostosis, Pectus c... ORPHA:3068
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Congenital diaphragmatic hernia, Abnormal thumb morphology, Triphalangeal thumb, Proximal placeme... ORPHA:1120
Pleural Mesothelioma
Dyspnea, Abnormal thorax morphology, Respiratory distress ORPHA:50251
Shwachman-Diamond Syndrome 1
Narrow greater sciatic notch, Enlargement of the costochondral junction, Metaphyseal sclerosis, N... OMIM:260400
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy
Kyphoscoliosis, Flared iliac wing, Flattened epiphysis, Wormian bones, Short finger, Small epiphy... OMIM:300232
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 28
Proximal muscle weakness in upper limbs, Respiratory distress, Lower limb amyotrophy, Calf muscle... OMIM:620375
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Congenital diaphragmatic hernia, Preaxial polydactyly, Narrow chest, Short ribs, Micromelia, Post... OMIM:616546
Congenital Disorder Of Glycosylation, Type Iy
Joint dislocation, Respiratory distress, Scoliosis, Micrognathia, Clinodactyly OMIM:300934
Congenital Contractures Of The Limbs And Face, Hypotonia, And Developmental Delay
11 pairs of ribs, Scoliosis, Elbow flexion contracture, Calcaneovalgus deformity, Camptodactyly, ... OMIM:616266
3M Syndrome
Rocker bottom foot, Hyperlordosis, Enlarged thorax, Kyphosis, Hypoplastic pelvis, Hypoplastic isc... ORPHA:2616
Spondylometaphyseal Dysplasia, Kozlowski Type
Short tubular bones of the hand, Short greater sciatic notch, Pectus carinatum, Flat acetabular r... ORPHA:93314
Acrorenal-Mandibular Syndrome
Kyphoscoliosis, Congenital diaphragmatic hernia, Split foot, Hip dislocation, Hypoplasia of the u... OMIM:200980
Congenital Pseudoarthrosis Of The Clavicle
Congenital pseudoarthrosis of the clavicle, Cervical ribs ORPHA:66630
Meier-Gorlin Syndrome 3
Patellar hypoplasia, Narrow chest, Slender long bone, Absent sternal ossification, Aplasia/Hypopl... OMIM:613803
Robinow Syndrome, Autosomal Recessive 1
Hypoplastic sacrum, Radial deviation of finger, Mesomelic arm shortening, Dislocated radial head,... OMIM:268310
White Forelock With Malformations
Clinodactyly of the 5th finger, Spina bifida occulta, Finger syndactyly, Abnormal rib morphology,... ORPHA:2475
Microcephaly-Micromelia Syndrome
Narrow chest, Oligodactyly, Missing ribs, Forearm undergrowth, Humeroradial synostosis, Short nec... OMIM:251230
Radio-Renal Syndrome
Hypoplasia of the radius, Abnormal form of the vertebral bodies, Respiratory distress, Dyspnea, A... ORPHA:3015
Osteogenesis Imperfecta, Type Xvi
Osteopenia, Platyspondyly, Rhizomelia, Vertebral compression fracture, Narrow chest, Angulated hu... OMIM:616229
Mucopolysaccharidosis, Type Iva
Pectus carinatum, Hyperlordosis, Kyphosis, Constricted iliac wing, Large elbow, Joint hypermobili... OMIM:253000
Achondrogenesis Type 1A
Narrow chest, Short thorax, Recurrent fractures, Abnormal enchondral ossification, Micromelia, Sh... ORPHA:93299
Mucopolysaccharidosis Type 4
Abnormal metaphysis morphology, Genu valgum, Platyspondyly, Reduced bone mineral density, Joint d... ORPHA:582
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Kyphoscoliosis, Small proximal tibial epiphyses, Broad distal phalanx of finger, Hypoplastic ilia... ORPHA:96334
Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures
Kyphoscoliosis, Joint contracture, Respiratory distress OMIM:617977
Osteogenesis Imperfecta, Type Xviii
Vertebral compression fracture, Thin ribs, Femoral bowing, Bowing of the long bones, Biconcave ve... OMIM:617952
Congenital Myopathy 22B, Severe Fetal
Spinal rigidity, Pectus excavatum, Thoracic hypoplasia, Scoliosis, Elbow flexion contracture, Lim... OMIM:620369
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
Kyphoscoliosis, Broad distal phalanx of finger, Dislocated radial head, Short long bone, Large il... OMIM:271640
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities
Clinodactyly of the 5th finger, 11 pairs of ribs, Clinodactyly of the 2nd finger, Scoliosis, Broa... OMIM:620073
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome
Aplasia/Hypoplasia of fingers, Clinodactyly of the 5th finger, Pectus carinatum, Postaxial hand p... ORPHA:3082
Otopalatodigital Syndrome, Type Ii
Rocker bottom foot, Kyphoscoliosis, Spondylolysis, Femoral bowing, Short ribs, Short metacarpal, ... OMIM:304120
Microcephaly, Short Stature, And Limb Abnormalities
Hypoplasia of the radius, Clinodactyly of the 5th finger, 11 pairs of ribs, Patellar hypoplasia, ... OMIM:617604
Multiple Pterygium Syndrome, X-Linked
Short finger, Multiple pterygia, Joint dislocation, Amyoplasia, Thin ribs, Micrognathia, Abnormal... OMIM:312150
Emphysema, Congenital Lobar
Respiratory distress OMIM:130710
Oculocerebrocutaneous Syndrome
Congenital diaphragmatic hernia, Finger syndactyly, Missing ribs, Abnormal rib morphology, Congen... ORPHA:1647
Shprintzen-Goldberg Syndrome
Abnormal metaphysis morphology, Osteopenia, Genu valgum, Narrow chest, Abnormal form of the verte... ORPHA:2462
Ossification Anomalies-Psychomotor Developmental Delay Syndrome
Abnormal bone ossification, Abnormal diaphysis morphology, Generalized bone demineralization, Nar... ORPHA:73230
Mucopolysaccharidosis, Type X
Beaking of vertebral bodies, Genu valgum, Spatulate ribs, Broad clavicles, Scoliosis, Hyperlordos... OMIM:619698
Lethal Congenital Contracture Syndrome 5
Thin ribs, Death in infancy, Congenital contracture, Centrally nucleated skeletal muscle fibers, ... OMIM:615368
Kbg Syndrome
Radial deviation of finger, Clinodactyly of the 5th finger, Thoracic kyphosis, Ulnar deviation of... OMIM:148050
Osteogenesis Imperfecta, Type Iii
Slender long bone, Thin ribs, Tibial bowing, Scoliosis, Kyphosis, Biconcave vertebral bodies, Mul... OMIM:259420
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Rhizomelia, Hypoplastic iliac wing, Thin ribs, Abnormality of the calcaneus, Death in infancy, Me... ORPHA:163966
Phaver Syndrome
Butterfly vertebrae, Triphalangeal thumb, Pterygium, Abnormal form of the vertebral bodies, Abnor... ORPHA:2876
Autosomal Recessive Robinow Syndrome
Abnormal hip bone morphology, Sandal gap, Pectus carinatum, Pectus excavatum, Kyphosis, Death in ... ORPHA:1507
Autosomal Dominant Centronuclear Myopathy
Proximal muscle weakness in upper limbs, Thin ribs, Calf muscle hypertrophy, Abnormality of the f... ORPHA:169189
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Congenital diaphragmatic hernia, Multiple joint dislocation, Sandal gap, Enlarged metaphyses, Dis... OMIM:245600
Acro-Renal-Mandibular Syndrome
Hypoplasia of the ulna, Hypoplasia of the radius, Butterfly vertebrae, Abnormal clavicle morpholo... ORPHA:958
X-Linked Intellectual Disability-Dysmorphism-Cerebral Atrophy Syndrome
Osteoporosis, Supernumerary ribs, Finger clinodactyly, Patellar subluxation, Coxa valga ORPHA:2958
Familial Osteodysplasia, Anderson Type
Aplasia/hypoplasia of the femur, Clinodactyly of the 5th finger, Abnormal cortical bone morpholog... ORPHA:2769
Cat-Eye Syndrome
Abnormal rib morphology, Hip dysplasia ORPHA:195
Phosphoribosylaminoimidazole Carboxylase Deficiency
Clinodactyly of the 5th finger, Lumbar hemivertebrae, Missing ribs, Neonatal death, Short neck OMIM:619859
1P36 Deletion Syndrome
Bifid ribs, Clinodactyly of the 5th finger, 11 pairs of ribs, Delayed cranial suture closure, Sco... ORPHA:1606
Cole-Carpenter Syndrome
Abnormal metaphysis morphology, Crumpled long bones, Abnormal form of the vertebral bodies, Scoli... ORPHA:2050
Pallister-Hall Syndrome
Oligodactyly, Shortening of all distal phalanges of the fingers, Mesomelia, Syndactyly, Hip dislo... OMIM:146510
Microlissencephaly-Micromelia Syndrome
11 pairs of ribs, Respiratory distress, Micromelia, Short neck, Adducted thumb ORPHA:50810
Microcephalic Primordial Dwarfism, Toriello Type
Abnormal epiphysis morphology, Brachydactyly, Abnormal rib morphology ORPHA:2643
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Sandal gap, Abnormal form of the vertebral bodies, Scoliosis, Hemivertebrae, Abnormal rib morphol... ORPHA:2180
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly
Short long bone, Femoral bowing, Hyperlordosis, Kyphosis, Thoracic hypoplasia, Metaphyseal irregu... OMIM:618019
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Aplasia of the epiglottis, Narrow chest, Respiratory distress, Short clavicles, Short long bone, ... OMIM:617088
Cardiomyopathy, Dilated, 1Gg
Left ventricular noncompaction, Respiratory distress OMIM:613642
Focal Dermal Hypoplasia
Congenital diaphragmatic hernia, Finger syndactyly, Short clavicles, Scoliosis, Short ribs, Split... ORPHA:2092
Multiple Pterygium Syndrome, Lethal Type
Short finger, Multiple pterygia, Joint dislocation, Amyoplasia, Thin ribs, Micrognathia, Abnormal... OMIM:253290
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency
Increased muscle glycogen content, Respiratory distress, Ragged-red muscle fibers, Increased musc... ORPHA:254864
Cog1-Cdg
Kyphoscoliosis, Butterfly vertebrae, Osteopenia, Rhizomelia, Short long bone, Posterior rib gap, ... ORPHA:263508
Congenital Disorder Of Glycosylation, Type Iu
Respiratory distress, Scoliosis, Death in infancy, Congenital contracture, Micrognathia OMIM:615042
Hypophosphatasia
Abnormal metaphysis morphology, Narrow chest, Bowing of the long bones, Abnormal rib morphology, ... ORPHA:436
Severe Congenital Nemaline Myopathy
Abnormality of the diaphragm, Thin ribs, Facial diplegia, Facial palsy, Nemaline bodies, Arthrogr... ORPHA:171430
Muscular Hypertonia, Lethal
Death in infancy, Respiratory distress OMIM:254120
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Abnormal fibula morphology, Tibial bowing, Bowing of the long bones, Abnormal rib morphology, Abn... ORPHA:3035
Femoral-Facial Syndrome
Limited elbow movement, Aplasia/hypoplasia of the femur, Short humerus, Syndactyly, Absent verteb... OMIM:134780
Osteogenesis Imperfecta, Type Xxi
Platyspondyly, Bell-shaped thorax, Barrel-shaped chest, Scoliosis, Pectus excavatum, Osteoporosis... OMIM:619131
Developmental And Epileptic Encephalopathy 30
Death in infancy, Respiratory distress OMIM:616341
Wolf-Hirschhorn Syndrome
Congenital diaphragmatic hernia, Sacral dimple, Abnormal vertebral morphology, Hypoplastic pubic ... ORPHA:280
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
Osteopenia, Clinodactyly of the 5th finger, 11 pairs of ribs, Sandal gap, Spondylolisthesis, Spin... OMIM:617877
Spondylometaphyseal Dysplasia, Algerian Type
Short tubular bones of the hand, Kyphoscoliosis, Carpal bone hypoplasia, Flared femoral metaphysi... OMIM:184253
Cree Mental Retardation Syndrome
Rocker bottom foot, Pectus excavatum, Cutaneous finger syndactyly, Aplasia/Hypoplasia of the ribs... OMIM:606851
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Abnormal rib morphology, Micromelia, Decreased calvarial ossification, Joint hypermobility, Recur... ORPHA:2772
Microphthalmia, Syndromic 3
Butterfly vertebrae, Hemivertebrae, Vertebral hypoplasia, Missing ribs, Supernumerary ribs, Rib f... OMIM:206900
Campomelic Dysplasia
Fibular hypoplasia, 11 pairs of ribs, Poorly ossified cervical vertebrae, Narrow chest, Tracheoma... ORPHA:140
Septopreoptic Holoprosencephaly
Abnormal vertebral morphology, Abnormal rib morphology ORPHA:280195
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Rickets, Enlargement of the costochondral junction, Fibular bowing, Enlargement of the wrists, Bu... OMIM:600081
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Sprengel anomaly, Micrognathia, Abnormal rib morphology, Abnormality of the vertebral column OMIM:601076
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Short tubular bones of the hand, Osteopenia, Abnormal diaphysis morphology, Increased bone minera... ORPHA:85184
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development
Slender long bone, Thin ribs, Decreased calvarial ossification, Micrognathia, Brachydactyly, Cran... OMIM:618265
Klippel-Feil Syndrome 3, Autosomal Dominant
Thoracic scoliosis, Cervical C3/C4 vertebral fusion, Cervical C5/C6 vertebrae fusion OMIM:613702
Ulbright-Hodes Syndrome
Hypoplasia of the radius, Fibular aplasia, Respiratory distress, Thin ribs, Short ribs, Short met... ORPHA:3404
Osteogenesis Imperfecta, Type Viii
Osteopenia, Platyspondyly, Barrel-shaped chest, Vertebral compression fracture, Slender long bone... OMIM:610915
Autosomal Recessive Kenny-Caffey Syndrome
Thin clavicles, Calvarial osteosclerosis, Thin ribs, Delayed cranial suture closure, Decreased sk... ORPHA:93324
Laryngotracheoesophageal Cleft Type 4
Abnormal rib morphology, Abnormal form of the vertebral bodies ORPHA:93941
Schinzel-Giedion Midface Retraction Syndrome
Long clavicles, Short 1st metacarpal, Wide distal femoral metaphysis, Wormian bones, Tibial bowin... OMIM:269150
Restrictive Dermopathy 2
Respiratory distress, Short clavicles, Microretrognathia, Overtubulated long bones OMIM:619793
Acrofacial Dysostosis Syndrome Of Rodriguez
Fibular hypoplasia, Triphalangeal thumb, 11 pairs of ribs, Oligodactyly, Micrognathia, Overlappin... OMIM:201170
Acrofacial Dysostosis 1, Nager Type
Congenital diaphragmatic hernia, Radial deviation of finger, Absent thumb, Absent radius, Overlap... OMIM:154400
Brachytelephalangic Chondrodysplasia Punctata
Short distal phalanx of toe, Short distal phalanx of finger, Butterfly vertebrae, Cervical spinal... ORPHA:79345
Ritscher-Schinzel Syndrome 1
Micrognathia, Hemivertebrae, Syndactyly, Missing ribs OMIM:220210
Craniosynostosis, Herrmann-Opitz Type
Finger syndactyly, Split hand, Abnormal rib morphology, Micromelia, Micrognathia, Brachydactyly, ... ORPHA:2145
Gaucher Disease Type 2
Abnormal pattern of respiration, Flexion contracture, Respiratory distress ORPHA:77260
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Clinodactyly of the 2nd finger, Cone-shaped epiphyses of the phalanges of the hand, Short ribs, T... OMIM:266920
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome
Sacral dimple, Clinodactyly of the 5th finger, Tapered toe, Rib fusion, Tapered finger ORPHA:544488
Frontometaphyseal Dysplasia 1
Limited elbow movement, Cervical C2/C3 vertebral fusion, Dislocated radial head, Wrist flexion co... OMIM:305620
Chitayat Syndrome
Respiratory distress, Tracheomalacia, Pectus excavatum, Brachydactyly, Hallux valgus OMIM:617180
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome
Respiratory distress ORPHA:171703
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Respiratory distress, Scoliosis, Spinal muscular atrophy, Skeletal muscle atrophy, Weakness of fa... ORPHA:254875
Three M Syndrome 2
Slender long bone, Short thorax, Pectus carinatum, Thin ribs, Hyperlordosis, Scapular winging, Pr... OMIM:612921
Mucopolysaccharidosis Type 6
Abnormal metaphysis morphology, Genu valgum, Kyphosis, Epiphyseal dysplasia, Joint stiffness, Ovo... ORPHA:583
Renpenning Syndrome
Abnormal thumb morphology, Clinodactyly of the 5th finger, Pectus excavatum, Abnormal rib morphol... ORPHA:3242
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction
Hyperextensibility of the finger joints, Micrognathia, 11 pairs of ribs OMIM:618356
Synaptic Congenital Myasthenic Syndromes
Hypoventilation, Exertional dyspnea, Respiratory distress, Scoliosis, Scapular winging, Facial pa... ORPHA:98915
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Myopathy, Respiratory distress ORPHA:91130
Tetraamelia-Multiple Malformations Syndrome
Abnormally ossified vertebrae, Missing ribs, Aplasia/Hypoplasia involving the pelvis, Abnormal ri... ORPHA:3301
Seckel Syndrome 5
Clinodactyly of the 5th finger, 11 pairs of ribs, Scoliosis, Micrognathia, Short middle phalanx o... OMIM:613823
Diamond-Blackfan Anemia 10
Congenital diaphragmatic hernia, Respiratory distress, Morgagni diaphragmatic hernia, Micrognathi... OMIM:613309
Cole-Carpenter Syndrome 2
Osteopenia, Lambdoidal craniosynostosis, Platyspondyly, Narrow iliac wing, Thin ribs, Pectus exca... OMIM:616294
Kniest Dysplasia
Enlarged metaphyses, Short long bone, Dumbbell-shaped long bone, Joint stiffness, Dumbbell-shaped... ORPHA:485
Klippel-Feil Syndrome 2, Autosomal Recessive
Fused cervical vertebrae, Cervical C2/C3 vertebral fusion, Scoliosis, Sprengel anomaly, Short neck OMIM:214300
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Kyphoscoliosis, Multiple joint dislocation, Pectus carinatum, Pectus excavatum, Arachnodactyly, S... ORPHA:536467
Moebius Syndrome
Congenital fibrosis of extraocular muscles, Radial deviation of finger, Respiratory distress, Fac... OMIM:157900
Seckel Syndrome 1
Clinodactyly of the 5th finger, 11 pairs of ribs, Sandal gap, Cone-shaped epiphyses of the phalan... OMIM:210600
Mucopolysaccharidosis, Type Ivb
Hyperlordosis, Kyphosis, Joint stiffness, Constricted iliac wing, Joint hypermobility, Coxa valga... OMIM:253010
Garg-Mishra Progeroid Syndrome
Narrow chest, Slender long bone, Thin ribs, Persistent open anterior fontanelle, Micrognathia, Ov... OMIM:620601
Kenny-Caffey Syndrome, Type 1
Long clavicles, Thin clavicles, Calvarial osteosclerosis, Slender long bone, Thin ribs, Short foo... OMIM:244460
Campomelic Dysplasia
Kyphoscoliosis, Absent sternal ossification, Dislocated radial head, Hypoplastic iliac wing, Pect... OMIM:114290
Cleidocranial Dysplasia
Decreased skull ossification, Abnormal epiphysis morphology, Abnormal sacrum morphology, Abnormal... ORPHA:1452
X-Linked Centronuclear Myopathy
Respiratory distress, Necklace skeletal muscle fibers, Type 1 fibers relatively smaller than type... ORPHA:596
Short Chain Acyl-Coa Dehydrogenase Deficiency
Myopathy, Respiratory distress ORPHA:26792
3C Syndrome
Abnormal hip bone morphology, Finger syndactyly, Scoliosis, Hemivertebrae, Missing ribs, Kyphosis... ORPHA:7
Cardiospondylocarpofacial Syndrome
Congenital diaphragmatic hernia, Tarsal synostosis, Fused cervical vertebrae, Scoliosis, Short fo... OMIM:157800
Campomelia, Cumming Type
Abnormally ossified vertebrae, Bowing of the long bones, Abnormal rib morphology, Micromelia, Dea... ORPHA:1318
Prune Belly Syndrome
Aplasia of the abdominal wall musculature, Scoliosis, Vertebral segmentation defect, Pectus excav... ORPHA:2970
Congenital Myasthenic Syndrome
Kyphoscoliosis, Spinal rigidity, Distal lower limb muscle weakness, Sudden episodic apnea, Pectus... ORPHA:590
Presynaptic Congenital Myasthenic Syndromes
Kyphoscoliosis, Spinal rigidity, Distal lower limb muscle weakness, Sudden episodic apnea, Pectus... ORPHA:98914
Cenani-Lenz Syndrome
Hypoplasia of the ulna, Hypoplasia of the radius, Abnormal metacarpal morphology, Abnormal form o... ORPHA:3258
Joubert Syndrome 21
Apnea, Short ribs, Dyspnea, Bell-shaped thorax OMIM:615636
Diaphragmatic Hernia 5, X-Linked
Congenital diaphragmatic hernia, Neonatal death OMIM:306950
Vertebral Hypersegmentation And Orofacial Anomalies
Scapular winging, Pectus excavatum, Six lumbar vertebrae, Micrognathia, Supernumerary ribs, Joint... OMIM:619122
Kyphomelic Dysplasia
Lateral clavicle hook, Ulnar bowing, Pterygium, Bowed humerus, Flared metaphysis, Dumbbell-shaped... OMIM:211350
Bardet-Biedl Syndrome 16
Polydactyly, Respiratory distress OMIM:615993
Cranioectodermal Dysplasia 2
Polydactyly, Rhizomelia, Narrow chest, Metopic synostosis, Short ribs, Postaxial hand polydactyly... OMIM:613610
Cranioectodermal Dysplasia 1
Fibular hypoplasia, Radial deviation of finger, Rhizomelia, Narrow chest, Broad distal phalanges ... OMIM:218330
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
Coat hanger sign of ribs, Diastasis recti, Thoracic hypoplasia ORPHA:254534
Antley-Bixler Syndrome
Narrow chest, Delayed cranial suture closure, Femoral bowing, Abnormal rib morphology, Joint stif... ORPHA:83
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Pectus excavatum, Broad thumb, Short 5th finger, Overlapping toe, Hip dislocation, Short palm, Ap... ORPHA:508498
Short Stature And Facioauriculothoracic Malformations
Abnormal odontoid process morphology, Pectus carinatum, Pectus excavatum, Cervical ribs, Short neck OMIM:609654
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Rhizomelia, Narrow chest, Respiratory distress, Tibial bowing, Femoral bowing, Kyphosis, Mesomeli... OMIM:616482
Cartilage-Hair Hypoplasia
Abnormal bone ossification, Biconvex vertebral bodies, Abnormal hip bone morphology, Abnormal for... ORPHA:175
Lethal Congenital Contracture Syndrome 10
Stiff neck, Torticollis, Narrow chest, Short long bone, Femoral bowing, Short neck, Increased var... OMIM:617022
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Rickets, Hypophosphatemic rickets, Enlargement of the costochondral junction, Fibular bowing, Enl... OMIM:241530
Chromosome 1P36 Deletion Syndrome, Distal
Bifid ribs, Clinodactyly of the 5th finger, 11 pairs of ribs, Scoliosis, Short foot, Camptodactyl... OMIM:607872
Congenital Disorder Of Glycosylation, Type Ie
Muscular dystrophy, Ankle flexion contracture, Respiratory distress, Upper limb undergrowth, Camp... OMIM:608799
Combined Oxidative Phosphorylation Deficiency 30
Death in infancy, Respiratory distress, Left ventricular hypertrophy OMIM:616974
Robinow Syndrome
Kyphoscoliosis, Mesomelic arm shortening, Scoliosis, Hemivertebrae, Missing ribs, Rib fusion, Mic... ORPHA:97360
Craniometadiaphyseal Dysplasia
Osteopenia, Genu valgum, Cubitus valgus, Flared metaphysis, Scoliosis, Coxa valga, Broad long bon... OMIM:269300
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Ragged-red muscle fibers, Generalized amyotrophy, Respiratory distress OMIM:613561
Hallermann-Streiff Syndrome
Reduced bone mineral density, Clinodactyly of the 5th finger, Tracheomalacia, Recurrent fractures... ORPHA:2108
Cornelia De Lange Syndrome 6
Clinodactyly of the 5th finger, Pectus carinatum, Scoliosis, Arachnodactyly, Short palm, Posterio... OMIM:620568
Acromesomelic Dysplasia 4
Sandal gap, Short metacarpal, Mesomelia, Metaphyseal irregularity, Prominent deltoid tuberosities... OMIM:619636
Auriculocondylar Syndrome 2A
Short mandibular rami, Respiratory distress, Mandibular condyle hypoplasia, Mandibular condyle ap... OMIM:614669
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Hemivertebrae, 11 pairs of ribs, Abnormal vertebral morphology ORPHA:77298
Holzgreve Syndrome
Abnormal metacarpal morphology, Abnormally ossified vertebrae, Abnormal rib morphology, Joint sti... ORPHA:2167
Mucopolysaccharidosis, Type Iiia
Dense calvaria, Scoliosis, Joint stiffness, Ovoid thoracolumbar vertebrae, Thickened ribs OMIM:252900
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Axial muscle stiffness, Respiratory distress ORPHA:240085
Arthrogryposis Multiplex Congenita 5
Rocker bottom foot, Kyphoscoliosis, Limitation of knee mobility, 11 pairs of ribs, Hammertoe, Sco... OMIM:618947
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities
Respiratory distress, Pectus carinatum, Scoliosis, Delayed cranial suture closure, Flexion contra... OMIM:619383
Wolf-Hirschhorn Syndrome
Sacral dimple, Abnormal sternal ossification, Short hallux, Abnormal form of the vertebral bodies... OMIM:194190
Multiple Pterygium-Malignant Hyperthermia Syndrome
Finger syndactyly, Congenital muscular torticollis, Scoliosis, Dyspnea, Pectus excavatum, Abnorma... ORPHA:2215
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Narrow greater sciatic notch, Platyspondyly, Rhizomelia, Flared metaphysis, Scoliosis, Short long... ORPHA:85167
X-Linked Hypophosphatemia
Reduced bone mineral density, Flared iliac wing, Abnormal epiphysis morphology, Craniosynostosis,... ORPHA:89936
Steinfeld Syndrome
Hypoplasia of the ulna, Hypoplasia of the radius, Abnormal vertebral morphology, Aplasia/Hypoplas... OMIM:184705
Camptodactyly Syndrome, Guadalajara Type 3
Osteopenia, Distal shortening of limbs, Spina bifida occulta, Abnormal rib morphology, Broad femo... ORPHA:488434
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development
Hypoplasia of the ulna, Fibular hypoplasia, Supernumerary ribs, Absent thumb, Aplasia/Hypoplasia ... OMIM:612447
Spondylometaphyseal Dysplasia, Sedaghatian Type
Narrow chest, Short metacarpal, Abnormal rib morphology, Rhizomelic arm shortening, Iliac crest s... ORPHA:93317
Osteoglophonic Dysplasia
Short metacarpal, Broad metatarsal, Pectus excavatum, Broad thumb, Craniosynostosis, Rhizomelia, ... OMIM:166250
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2
11 pairs of ribs, Bicoronal synostosis, Tracheobronchomalacia, Scoliosis, Short long bone, Joint ... OMIM:619184
Tetrasomy 5P
Clinodactyly of the 5th finger, Short hallux, Respiratory distress, Pectus excavatum, Short neck,... ORPHA:3309
Baller-Gerold Syndrome
Limited elbow movement, Carpal bone aplasia, Oligodactyly, Short humerus, Absent thumb, Absent ra... OMIM:218600
Thrombocytopenia-Absent Radius Syndrome
Fibular aplasia, Clinodactyly of the 5th finger, Fused cervical vertebrae, Tibial torsion, Finger... ORPHA:3320
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe
Supraumbilical raphe, Bifid sternum OMIM:140850
Mucopolysaccharidosis, Type Iiib
Joint stiffness, Thickened ribs, Dense calvaria, Ovoid thoracolumbar vertebrae OMIM:252920
Osteogenesis Imperfecta, Type Vii
Osteopenia, Rhizomelia, Crumpled long bones, Vertebral compression fracture, Femoral retroversion... OMIM:610682
Zttk Syndrome
Cervical ribs, Scoliosis, Hemivertebrae, Kyphosis, Flexion contracture, Rib fusion, Joint hypermo... OMIM:617140
Humerofemoral Hypoplasia With Radiotibial Ray Deficiency
Congenital diaphragmatic hernia, Bowed humerus, Short clavicles, Elbow flexion contracture, Hypop... OMIM:618022
Kagami-Ogata Syndrome
Kyphoscoliosis, Long clavicles, Bell-shaped thorax, Thin ribs, Diastasis recti, Long fingers, Mic... OMIM:608149
Spondyloepimetaphyseal Dysplasia, X-Linked
Cone-shaped epiphyses of the phalanges of the hand, Pectus carinatum, Delayed ossification of car... OMIM:300106
Cerebrocostomandibular Syndrome
Anomalous rib insertion to vertebrae, 10 pairs of ribs, Clinodactyly of the 5th finger, 11 pairs ... OMIM:117650
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy
Respiratory distress, Metacarpophalangeal joint contracture, Scoliosis, Wrist hypermobility, Flex... ORPHA:544503
Immunodeficiency 95
Respiratory distress OMIM:619773
Mucopolysaccharidosis, Type Iiic
Kyphoscoliosis, Beaking of vertebral bodies, Dense calvaria, Joint stiffness, Ovoid thoracolumbar... OMIM:252930
Schwartz-Jampel Syndrome
Spinal rigidity, Flexion contracture of toe, Pectus carinatum, Hyperlordosis, Wrist flexion contr... ORPHA:800
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Rickets, Enlargement of the costochondral junction, Fibular bowing, Enlargement of the wrists, Bu... OMIM:264700
Mosaic Trisomy 8
Clinodactyly of the 5th finger, Narrow chest, Scoliosis, Vertebral segmentation defect, Limitatio... ORPHA:96061
Bronchopulmonary Dysplasia
Respiratory distress, Tracheobronchomalacia, Dyspnea, Right ventricular hypertrophy, Central apnea ORPHA:70589
Arthrogryposis Multiplex Congenita 6
Death in childhood, Nemaline bodies, Death in infancy, Increased variability in muscle fiber diam... OMIM:619334
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
Osteopenia, Abnormal bone ossification, Thin metacarpal cortices, Lumbar hemivertebrae, Thin meta... ORPHA:2463
Brown-Vialetto-Van Laere Syndrome 1
Nocturnal hypoventilation, Death in childhood, Respiratory distress, Scoliosis, Facial palsy, Dys... OMIM:211530
Multiple Synostoses Syndrome 1
Radial deviation of finger, Proximal/middle symphalangism of 5th toe, Dislocated radial head, Pec... OMIM:186500
Cervical Ribs, Sprengel Anomaly, Anal Atresia, And Urethral Obstruction
Preaxial hand polydactyly, Thoracolumbar scoliosis, Sprengel anomaly, Cervical ribs OMIM:601389
Yunis-Varon Syndrome
Rocker bottom foot, Absent sternal ossification, Abnormal finger morphology, Short ribs, Decrease... ORPHA:3472
Focal Dermal Hypoplasia
Congenital diaphragmatic hernia, Midclavicular aplasia, Short ribs, Short metacarpal, Split foot,... OMIM:305600
Cantú Syndrome
Abnormal metaphysis morphology, Platyspondyly, Narrow chest, Short hallux, Finger syndactyly, Cub... ORPHA:1517
Nestor-Guillermo Progeria Syndrome
Limited elbow movement, Thin ribs, Osteolytic defects of the distal phalanges of the hand, Scolio... OMIM:614008
Mucopolysaccharidosis-Plus Syndrome
Death in childhood, Respiratory distress, Pectus carinatum, Clubbing, Pectus excavatum, Flared il... OMIM:617303
Simpson-Golabi-Behmel Syndrome, Type 1
Narrow greater sciatic notch, Congenital diaphragmatic hernia, Short greater sciatic notch, Pectu... OMIM:312870
Succinic Acidemia
Respiratory distress OMIM:600335
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Narrow greater sciatic notch, Femoral bowing, Short long bone, Cupped ribs, Tibial bowing, Short ... OMIM:608940
Eiken Syndrome
Fibular hypoplasia, Delayed epiphyseal ossification, Delayed ossification of carpal bones, Flat a... OMIM:600002
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Thin ribs, Flexion contracture OMIM:614833
Opsismodysplasia
Rhizomelia, Bell-shaped thorax, Narrow chest, Metaphyseal cupping, Hypoplastic pubic bone, Scolio... OMIM:258480
Gm1-Gangliosidosis, Type I
Beaking of vertebral bodies, Scoliosis, Kyphosis, Death in infancy, Joint stiffness, Hypoplastic ... OMIM:230500
Craniorachischisis
Congenital diaphragmatic hernia, Sirenomelia, Anencephaly, Bifid sternum, Myelomeningocele, Spina... ORPHA:63260
Mucopolysaccharidosis, Type Vii
Narrow greater sciatic notch, Pectus carinatum, Large iliac wing, Pectus excavatum, Kyphosis, Pro... OMIM:253220
Xylt1-Cdg
Joint dislocation, Flared metaphysis, Short clavicles, Short long bone, Broad thumb, Short femora... ORPHA:370930
Stuve-Wiedemann Syndrome 1
Flexion contracture of toe, Short long bone, Femoral bowing, Clubbing, Tibial bowing, Death in in... OMIM:601559
Tbck-Related Intellectual Disability Syndrome
Broad finger, 11 pairs of ribs, Broad toe, 2-3 toe syndactyly, Scoliosis, Diastasis recti, Pectus... ORPHA:488632
Sclerosteosis 1
Sclerotic vertebral endplates, Broad clavicles, Facial palsy, Abnormal pelvic girdle bone morphol... OMIM:269500
Trisomy 1Q
Congenital diaphragmatic hernia, Short thorax, Abnormal rib morphology, Arachnodactyly, Camptodac... ORPHA:261344
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion
Prominent sternum, Wrist flexion contracture, Camptodactyly, Pectus excavatum, Diastasis recti, C... ORPHA:254528
Episodic Ataxia Type 1
Kyphoscoliosis, Scoliosis, Calf muscle hypertrophy, Respiratory distress ORPHA:37612
Hypophosphatemic Rickets, X-Linked Dominant
Rickets, Genu valgum, Fibular bowing, Hypophosphatemic rickets, Cupped metaphyses of hand bones, ... OMIM:307800
Gracile Bone Dysplasia
Slender long bone, Flared metaphysis, Thin ribs, Decreased skull ossification, Death in infancy, ... OMIM:602361
Hurler Syndrome
Abnormal clavicle morphology, Abnormal vertebral morphology, Abnormal diaphysis morphology, Abnor... ORPHA:93473
Diaphragmatic Hernia 4, With Cardiovascular Defects
Clinodactyly of the 5th finger, 11 pairs of ribs, Finger syndactyly, 2-3 toe syndactyly, Aplasia ... OMIM:620025
Fibrous Dysplasia Of Bone
Abnormal femur morphology, Pathologic fracture, Osteolysis, Abnormal clavicle morphology, Rickets... ORPHA:249
Farber Disease
Short finger, Abnormality of the wrist, Respiratory distress, Arthritis, Abnormal sternum morphol... ORPHA:333
Otopalatodigital Syndrome Type 2
Fibular aplasia, Preaxial polydactyly, Tarsal synostosis, Abnormal metacarpal morphology, Narrow ... ORPHA:90652
Coenzyme Q10 Deficiency, Primary, 8
Respiratory distress, Flexion contracture, Left ventricular hypertrophy OMIM:616733
Cartilage-Hair Hypoplasia
Limited elbow extension, Asymmetry of the thorax, Narrow chest, Metaphyseal cupping, Scoliosis, F... OMIM:250250
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence
Proximal placement of thumb, Narrow chest, Tracheomalacia, Respiratory distress, Short palm, Micr... OMIM:217980
Aspergillosis
Abnormal long bone morphology, Abnormality of the vertebral column, Dyspnea, Abnormal rib morphol... ORPHA:1163
X-Linked Myotubular Myopathy-Abnormal Genitalia Syndrome
Joint hypermobility, Thin ribs ORPHA:456328
Vacterl/Vater Association
Congenital diaphragmatic hernia, Abnormal intervertebral disk morphology, Finger syndactyly, Vert... ORPHA:887
Infant Acute Respiratory Distress Syndrome
Tachypnea, Nasal flaring, Abnormal thorax morphology ORPHA:70587
Mucopolysaccharidosis, Type Vi
Kyphoscoliosis, Hypoplastic iliac wing, Pectus carinatum, Flared iliac wing, Joint stiffness, Met... OMIM:253200
Autosomal Dominant Popliteal Pterygium Syndrome
Popliteal pterygium, Finger syndactyly, Scoliosis, Split hand, Abnormal rib morphology, Joint sti... ORPHA:1300
Ear-Patella-Short Stature Syndrome
Clinodactyly of the 5th finger, Joint hypermobility, Slender long bone, Respiratory distress, Dys... ORPHA:2554
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Tachypnea, Micrognathia, Horizontal ribs, Bell-shaped thorax OMIM:614857
Craniofaciofrontodigital Syndrome
Osteopenia, Respiratory distress, Pectus carinatum, Scoliosis, Dyspnea, Osteoporosis, Joint hyper... ORPHA:363705
Wiedemann-Steiner Syndrome
Sacral dimple, Clinodactyly of the 5th finger, Rhizomelia, Tapered finger, Pectus excavatum, Hype... ORPHA:319182
Leopard Syndrome 1
Kyphoscoliosis, Limited elbow movement, Cubitus valgus, Spina bifida occulta, Pectus carinatum, S... OMIM:151100
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Respiratory distress, Absent ossification of capital femoral epiphysis, Delayed epiphyseal ossifi... ORPHA:226313
Mitochondrial Complex Iv Deficiency, Nuclear Type 2
Respiratory distress, Death in infancy, Increased variability in muscle fiber diameter, Irregular... OMIM:604377
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Aplasia/hypoplasia of the femur, Proximal placement of thumb, Hypoplastic pubic ramus, Dislocated... OMIM:609945
Alagille Syndrome
Hypoplasia of the ulna, Clinodactyly of the 5th finger, Butterfly vertebral arch, Abnormal form o... ORPHA:52
Malaria
Respiratory distress ORPHA:673
Trisomy 13
Narrow chest, Scoliosis, Postaxial hand polydactyly, Ectrodactyly, Kyphosis, Abnormal pelvic gird... ORPHA:3378
Dyssegmental Dysplasia, Silverman-Handmaker Type
Pterygium, Short long bone, Bowing of the long bones, Anisospondyly, Micromelia, Micrognathia, Ne... OMIM:224410
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Abnormal metaphysis morphology, Absent or minimally ossified vertebral bodies, Narrow chest, Abno... ORPHA:93271
Shprintzen-Goldberg Craniosynostosis Syndrome
Lateral clavicle hook, Osteopenia, Genu valgum, Dislocated radial head, Genu recurvatum, Thin rib... OMIM:182212
Holt-Oram Syndrome
Aplasia of the pectoralis major muscle, Proximal placement of thumb, Cervical C2/C3 vertebral fus... OMIM:142900
Respiratory Distress Syndrome In Premature Infants
Tachypnea, Dyspnea, Respiratory distress OMIM:267450
Lissencephaly Syndrome, Norman-Roberts Type
Rocker bottom foot, Adducted thumb, Microretrognathia, Respiratory distress ORPHA:89844
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Hypoplasia of the ulna, Hypoplasia of the radius, Aplasia/Hypoplasia of the thumb, Vertebral segm... ORPHA:3186
Diamond-Blackfan Anemia 1
Hypoplasia of the radius, Triphalangeal thumb, 11 pairs of ribs, Hypoplastic coccygeal vertebrae,... OMIM:105650
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Aplasia/hypoplasia of the femur, Carpal bone aplasia, Aplasia/Hypoplasia of the phalanges of the ... OMIM:276820
Stüve-Wiedemann Syndrome
Abnormal metaphysis morphology, Osteopenia, Genu valgum, Sacral dimple, Abnormal cortical bone mo... ORPHA:3206
Orofaciodigital Syndrome Vi
Fibular aplasia, Radial deviation of finger, 11 pairs of ribs, Tibial bowing, Postaxial hand poly... OMIM:277170
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy
Osteopenia, Respiratory distress, Scoliosis, Micrognathia, Contractures of the large joints ORPHA:329178
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Enlarged metaphyses, Bifid first metacarpal, Femoral bowing, Short metacarpal, Death in infancy, ... OMIM:210710
Gaucher Disease, Perinatal Lethal
Respiratory distress, Micrognathia, Apnea, Neonatal death, Thoracic hypoplasia, Arthrogryposis mu... OMIM:608013
Anaplastic Thyroid Carcinoma
Abnormal skeletal muscle morphology, Dyspnea, Respiratory distress ORPHA:142
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis
Congenital diaphragmatic hernia, Micrognathia, Respiratory distress OMIM:606164
Laryngotracheal Angioma
Apnea, Intercostal retractions, Respiratory distress ORPHA:137935
Jacobsen Syndrome
Clinodactyly of the 5th finger, Pectus excavatum, Missing ribs, Micrognathia, Flexion contracture... OMIM:147791
Mitochondrial Pyruvate Carrier Deficiency
Respiratory distress OMIM:614741
Laryngomalacia
Respiratory distress OMIM:150280
Kagami-Ogata Syndrome
Kyphoscoliosis, Bell-shaped thorax, Diastasis recti, Limitation of joint mobility, Coat hanger si... ORPHA:254519
Myhre Syndrome
Abnormal metaphysis morphology, Platyspondyly, Craniofacial hyperostosis, Skeletal muscle hypertr... ORPHA:2588
Gm1 Gangliosidosis Type 1
Beaking of vertebral bodies T12-L3, Platyspondyly, Spatulate ribs, Broad long bone diaphyses, Pec... ORPHA:79255
6Q Terminal Deletion Syndrome
Scoliosis, Prominent metopic ridge, Aplasia/Hypoplasia of the ribs, Micrognathia, Joint hypermobi... ORPHA:75857
Pallister-Hall Syndrome
Mesoaxial polydactyly, Oligodactyly, Broad thumb, Polydactyly affecting the 3rd finger, Overlappi... ORPHA:672
Mogs-Cdg
Hypoventilation, Respiratory distress, Apnea, Left ventricular hypertrophy, Thoracic scoliosis, O... ORPHA:79330
Osteogenesis Imperfecta
Abnormal femur morphology, Reduced bone mineral density, Abnormal hip bone morphology, Abnormal f... ORPHA:666
Premature Aging Syndrome, Penttinen Type
Slender long bone, Recurrent fractures, Delayed cranial suture closure, Tibial bowing, Thin ribs,... OMIM:601812
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Butterfly vertebrae, Diastasis recti, Micrognathia, Neonatal death, Posterior rib fusion, Right v... OMIM:265380
Hypocalcemic Vitamin D-Dependent Rickets
Rickets, Enlargement of the costochondral junction, Enlargement of the wrists, Delayed epiphyseal... ORPHA:289157
Occipital Horn Syndrome
Limited elbow extension, Genu valgum, Narrow chest, Short clavicles, Pectus carinatum, Broad clav... OMIM:304150
Developmental And Epileptic Encephalopathy 68
Flexion contracture, Respiratory distress OMIM:618201
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Respiratory distress OMIM:619466
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Cervical ribs, Kyphoscoliosis, Hyperextensible hand joints, Slender long bone, Hemivertebrae, Hyp... ORPHA:500150
Pseudotrisomy 13 Syndrome
11 pairs of ribs, 2-3 toe syndactyly, Hemivertebrae, Postaxial hand polydactyly, Postaxial foot p... OMIM:264480
Monosomy 9Q22.3
Polydactyly, Rhabdomyosarcoma, Abnormality of the vertebral column, Pectus excavatum, Kyphosis, A... ORPHA:77301
Carnitine Deficiency, Systemic Primary
Reduced muscle carnitine level, Myopathy, Respiratory distress OMIM:212140
Folinic Acid-Responsive Seizures
Apnea, Respiratory distress ORPHA:79097
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Respiratory distress OMIM:612075
Paternal 20Q13.2Q13.3 Microdeletion Syndrome
Micrognathia, Respiratory distress ORPHA:261304
Osteopathia Striata With Cranial Sclerosis
Flexion contracture of toe, Pectus excavatum, Arachnodactyly, Paranasal sinus hypoplasia, Craniof... OMIM:300373
Orofaciodigital Syndrome Xiv
Preaxial polydactyly, Aplasia of the epiglottis, Short ribs, Postaxial hand polydactyly, Microgna... OMIM:615948
Jacobsen Syndrome
Abnormal form of the vertebral bodies, Finger syndactyly, Scoliosis, Missing ribs, Death in infan... ORPHA:2308
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Rocker bottom foot, Proximal tibial and fibular fusion, Femoral bowing, Short metacarpal, Arachno... ORPHA:95699
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria
Abnormal bone ossification, Metaphyseal enchondromatosis, Metaphyseal irregularity, Metaphyseal c... ORPHA:99646
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Respiratory distress, Flexion contracture, Skeletal muscle atrophy, Abnormal muscle glycogen cont... ORPHA:367
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Lumbar kyphosis, Barrel-shaped chest, Respiratory distress, Pectus carinatum, Thoracic kyphosis, ... ORPHA:505248
Primary Dystonia, Dyt4 Type
Kyphoscoliosis, Torticollis, Respiratory distress ORPHA:98805
Avian Influenza
Respiratory distress, Miscarriage, Dyspnea, Rhabdomyolysis, Tachypnea ORPHA:454836
Surfactant Metabolism Dysfunction, Pulmonary, 3
Exertional dyspnea, Respiratory distress, Clubbing, Dyspnea, Death in infancy, Apnea, Neonatal de... OMIM:610921
Idiopathic Neonatal Atrial Flutter
Tachypnea, Respiratory distress ORPHA:45452
Muscular Dystrophy, Congenital, With Or Without Seizures
Hypoglycosylation of alpha-dystroglycan, Respiratory distress OMIM:620166
Congenital Lobar Emphysema
Respiratory distress ORPHA:1928
Progressive Supranuclear Palsy-Corticobasal Syndrome
Respiratory distress ORPHA:240103
Mgat2-Cdg
Osteopenia, Respiratory distress, Scoliosis, Pectus excavatum, Kyphosis, Brachydactyly ORPHA:79329
Pfeiffer Syndrome Type 2
Deviation of the thumb, Short hallux, Finger syndactyly, Tracheomalacia, Respiratory distress, Li... ORPHA:93259
Weill-Marchesani Syndrome 1
Broad phalanges of the hand, Scoliosis, Broad metacarpals, Broad metatarsal, Joint stiffness, Spi... OMIM:277600
Mucopolysaccharidosis, Type Iiid
Elbow flexion contracture, Epiphyseal dysplasia, Short neck, Ovoid thoracolumbar vertebrae, Hypop... OMIM:252940
Congenital Disorder Of Glycosylation, Type Ix
Death in childhood, Respiratory distress OMIM:615597
Fetal Akinesia Deformation Sequence 1
Rocker bottom foot, Stillbirth, Slender long bone, Thin ribs, Wrist flexion contracture, Congenit... OMIM:208150
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Polydactyly, Hypoventilation, Respiratory distress, Prominent metopic ridge, Micrognathia, Apnea ORPHA:314655
Recurrent Respiratory Papillomatosis
Respiratory distress, Tachypnea, Dyspnea, Tracheomalacia ORPHA:60032
Boomerang Dysplasia
Absent radius, Fibular aplasia, Neonatal death, Hypoplastic iliac body OMIM:112310
Lenz-Majewski Hyperostotic Dwarfism
Diaphyseal undertubulation, Spina bifida occulta, Flared metaphysis, Hyperextensibility of the fi... OMIM:151050
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Long clavicles, Fused cervical vertebrae, Respiratory distress, Thin ribs, Cleft vertebral arch, ... ORPHA:83617
Chronic Pneumonitis Of Infancy
Hyperventilation, Tachypnea, Intercostal retractions, Respiratory distress ORPHA:91359
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia