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Gene: Myf6 MGI:97253

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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:
myogenic factor 6
Synonyms:
bHLHc4,  MRF4,  herculin

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 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, Miscarriage, Centrally nucleated skeletal muscle fibers,... 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
Bell-shaped thorax, Short ribs OMIM:273740
Cervical Rib
Cervical ribs OMIM:117900
Thoracic Dysostosis, Isolated
Pectus excavatum, Short ribs, Bell-shaped thorax OMIM:187750
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly
Death in infancy, Lateral clavicle hook, Postaxial hand polydactyly, Postaxial foot polydactyly, ... OMIM:617405
Poland Syndrome
Unilateral absence of pectoralis major muscle, Syndactyly, Unilateral oligodactyly, Unilateral hy... OMIM:173800
Spondylocostal Dysostosis 2, Autosomal Recessive
Short neck, Vertebral clefting, Rib fusion, Hemivertebrae, 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
Metatropic Dysplasia
Abnormal metaphyseal vascular invasion, Enlarged joints, Flexion contracture, Long coccyx, Halber... OMIM:156530
Neurogenic Thoracic Outlet Syndrome
Abnormal rib morphology ORPHA:100073
Thoracopelvic Dysostosis
Short ribs OMIM:187770
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia
Back pain, Enlarged epiphyses, Proximal placement of thumb, Short neck, Flexion contracture, Coxa... OMIM:613330
Ophthalmoplegia, External, With Rib And Vertebral Anomalies
Torticollis, Missing ribs, Pectus excavatum, Pectus carinatum, Short ribs, Scoliosis, Pseudoarthr... OMIM:618155
Thanatophoric Dysplasia, Type Ii
Small abnormally formed scapulae, Micromelia, Hypoplastic ilia, Wide-cupped costochondral junctio... OMIM:187601
Infantile-Onset X-Linked Spinal Muscular Atrophy
Respiratory distress, Skeletal muscle atrophy, Hip contracture, Interphalangeal joint contracture... ORPHA:1145
Spondylometaphyseal Dysplasia With Corneal Dystrophy
Neonatal respiratory distress, Coarse metaphyseal trabecularization, Increased intervertebral spa... OMIM:618961
Spondylocostal Dysostosis 1, Autosomal Recessive
Back pain, Vertebral fusion, Death in infancy, Block vertebrae, Abnormal odontoid process morphol... OMIM:277300
Thoracolaryngopelvic Dysplasia
Metaphyseal widening, Irregular chondrocostal junctions, Bell-shaped thorax, Irregular vertebral ... OMIM:187760
Thoracomelic Dysplasia
Hyperlordosis, Short neck, Elbow dislocation, Abnormal fibula morphology, Genu valgum, Bell-shape... ORPHA:1803
Kyphomelic Dysplasia
Bowing of the long bones, Anterior rib cupping, Micromelia, Missing ribs, Lateral clavicle hook, ... ORPHA:1801
Axial Spondylometaphyseal Dysplasia
Osteopenia, Aplasia/Hypoplasia of the vertebrae, Thoracic scoliosis, Proximal femoral metaphyseal... ORPHA:168549
Spondylocostal Dysostosis 5
Vertebral fusion, Low back pain, Missing ribs, Short neck, Hemivertebrae, Pectus carinatum, Poste... OMIM:122600
Diaphanospondylodysostosis
Respiratory distress, Short neck, Missing ribs, Short thorax, Enlarged thorax, Narrow pelvis bone... ORPHA:66637
Fibrochondrogenesis 2
Hypoplastic ischia, Micrognathia, Hypoplastic ilia, Cupped ribs, Metaphyseal widening, Hypoplasti... OMIM:614524
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Respiratory distress, Micromelia, Short neck, Narrow chest, Severe limb shortening, Radial bowing... OMIM:151210
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Finger syndactyly, Abnormality of the elbow, Abnormal rib morphology, Pectus carinatum, Radioulna... ORPHA:3268
Fetal Akinesia Deformation Sequence 4
11 pairs of ribs, Skeletal muscle atrophy, Rocker bottom foot, Short neck, Micrognathia, Kyphosis... OMIM:618393
Achondrogenesis Type 2
Delayed vertebral ossification, Absent vertebral body mineralization, Micromelia, Hypoplastic ili... ORPHA:93296
Becker Nevus Syndrome
Micromelia, Pectus excavatum, Kyphosis, Abnormal tibia morphology, Rib fusion, Pectus carinatum, ... ORPHA:64755
Achondrogenesis, Type Ib
Micromelia, Hypoplastic ilia, Respiratory insufficiency, Stillbirth, Narrow chest, Short ribs, Ab... OMIM:600972
Endosteal Hyperostosis, Worth Type
Craniofacial hyperostosis, Sclerotic vertebral body, Facial palsy, Generalized osteosclerosis, Ab... ORPHA:2790
Chondrodysplasia, Blomstrand Type
Micromelia, Micrognathia, Generalized osteosclerosis, Squared iliac bones, Flared metaphysis, Adv... OMIM:215045
Stuve-Wiedemann Syndrome 2
Respiratory distress, Bowing of the long bones, Death in adolescence, Short long bone, Stillbirth... OMIM:619751
Autosomal Dominant Spondylocostal Dysostosis
Short neck, Missing ribs, Hyperlordosis, Abnormal sacrum morphology, Short thorax, Abnormal rib m... ORPHA:1797
Schneckenbecken Dysplasia
Hypoplastic scapulae, Anterior rib cupping, Ovoid vertebral bodies, Short neck, Lateral clavicle ... OMIM:269250
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Death in infancy, Iliac crest serration, Micromelia, Short neck, Wide distal femoral metaphysis, ... OMIM:613320
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome
Abnormal rib morphology ORPHA:2435
Spondyloepimetaphyseal Dysplasia, Shohat Type
Micromelia, Short neck, Delayed epiphyseal ossification, Coxa vara, Narrow greater sciatic notch,... OMIM:602557
Thanatophoric Dysplasia, Type I
Neonatal respiratory distress, Bowing of the long bones, Small abnormally formed scapulae, Short ... OMIM:187600
Sprengel Deformity
Rib segmentation abnormalities, Cervical segmentation defect, Shoulder muscle hypoplasia, Hemiver... OMIM:184400
Autosomal Recessive Spondylocostal Dysostosis
Rib segmentation abnormalities, Finger syndactyly, Abnormal intervertebral disk morphology, Campt... ORPHA:2311
Heart Defects-Limb Shortening Syndrome
Death in infancy, Mesomelic/rhizomelic limb shortening, Kyphosis, Abnormal rib morphology, Abnorm... ORPHA:1354
Lethal Recessive Chondrodysplasia
Respiratory distress, Micromelia, Micrognathia, Generalized osteosclerosis, Macroglossia, Short l... ORPHA:1423
Three M Syndrome 1
Joint dislocation, Scapular winging, Neonatal respiratory distress, Short neck, Pectus excavatum,... OMIM:273750
Spondylocostal Dysostosis 4, Autosomal Recessive
Vertebral fusion, Abnormal odontoid process morphology, Block vertebrae, Missing ribs, Pectus exc... OMIM:613686
Spondylometaphyseal Dysplasia, Type A4
Brachydactyly, Ovoid vertebral bodies, Coxa valga, Metaphyseal sclerosis, Enlargement of the cost... OMIM:609052
Fibrochondrogenesis 1
Short neck, Narrow greater sciatic notch, Short palm, Clinodactyly of the 5th finger, Widely pate... OMIM:228520
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Respiratory distress, Syndactyly, Thoracic hypoplasia, Postaxial polydactyly, Micromelia, Lateral... OMIM:617895
Dysosteosclerosis
Osteopenia, Sclerosis of hand bone, Micrognathia, Increased intervertebral space, Absent frontal ... OMIM:224300
Bone Dysplasia, Lethal Holmgren Type
Joint dislocation, Metaphyseal dysplasia, Rhizomelia, Micromelia, Short neck, Abnormal thumb morp... ORPHA:1842
Lethal Congenital Contracture Syndrome 3
Skeletal muscle atrophy, Multiple joint contractures, Respiratory insufficiency, Neonatal death, ... OMIM:611369
Congenital Myopathy 10A, Severe Variant
Respiratory distress, Facial palsy, Camptodactyly of finger, Pectus excavatum, Increased variabil... OMIM:614399
Metatropic Dysplasia
Abnormal intervertebral disk morphology, Camptodactyly of finger, Micromelia, Abnormal enchondral... ORPHA:2635
Fibrochondrogenesis
Hypoplastic scapulae, Camptodactyly of finger, Micromelia, Short neck, Abnormal rib morphology, A... ORPHA:2021
Achondrogenesis, Type Ia
Abnormal femoral metaphysis morphology, Micromelia, Beaded ribs, Short neck, Bowing of the legs, ... OMIM:200600
Femoral-Facial Syndrome
Short femur, Micrognathia, Abnormal sacrum morphology, Rib fusion, Abnormal rib morphology, Coxa ... ORPHA:1988
Seckel Syndrome 4
11 pairs of ribs, Steep acetabular roof OMIM:613676
Hypophosphatasia, Infantile
Death in infancy, Apnea, Craniosynostosis, Bowing of the legs, Micromelia, Vertebral clefting, In... OMIM:241500
Achondrogenesis, Type Ii
Barrel-shaped chest, Absent vertebral body mineralization, Microretrognathia, Broad long bones, S... OMIM:200610
Achondroplasia
Respiratory distress, Limited hip extension, Bowing of the legs, Generalized joint laxity, Femora... OMIM:100800
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness
Metaphyseal widening, Flat glenoid fossa, Coxa vara, Short palm, Genu varum, Joint laxity, Lumbar... OMIM:250420
Mesomelic Dysplasia, Kantaputra Type
Camptodactyly of finger, Tarsal synostosis, Abnormality of the humerus, Abnormal rib morphology, ... ORPHA:1836
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Osteopenia, Multiple rib fractures, Short femur, Fractured radius, Wormian bones, Beaded ribs, Sh... OMIM:616897
Cerebrofaciothoracic Dysplasia
Short neck, Rib fusion, Hemivertebrae, Vertebral segmentation defect, Narrow chest, Bifid ribs, S... ORPHA:1394
Cooper-Jabs Syndrome
Camptodactyly of finger, Congenital diaphragmatic hernia, Missing ribs, Proximal placement of thu... ORPHA:1488
Acrocapitofemoral Dysplasia
Micromelia, Short proximal phalanx of thumb, Coxa vara, Pectus carinatum, Narrow chest, Short pal... OMIM:607778
Dyssegmental Dysplasia, Silverman-Handmaker Type
Broad long bones, Miscarriage, Hypoplastic ischia, Short neck, Bowing of the legs, Hypoplastic il... ORPHA:1865
Spondylometaphyseal Dysplasia, A4 Type
Micromelia, Limitation of joint mobility, Coxa vara, Platyspondyly, Flared, irregular rib ends, S... ORPHA:168555
Pyknoachondrogenesis
Craniofacial hyperostosis, Abnormal intramembranous ossification, Hypoplastic ischia, Short iliac... ORPHA:3003
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Respiratory distress, Arachnodactyly, Missing ribs, Dyspnea, Abnormal rib morphology, Hemivertebr... ORPHA:2759
Greenberg Dysplasia
Micromelia, Beaded ribs, Multiple prenatal fractures, Micrognathia, Patchy variation in bone mine... OMIM:215140
Lethal Kniest-Like Dysplasia
Abnormal ischium morphology, Broad long bones, Anterior rib cupping, Short neck, Hypoplastic ilia... ORPHA:2347
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Radial bowing, Postaxial polydactyly, Missing ribs, Hypoplastic ischia, Micromelia, Ulnar bowing,... OMIM:617866
Bent Bone Dysplasia Syndrome 2
Osteopenia, Bowed humerus, Short neck, Short tibia, Ulnar bowing, Thin ribs, Femoral bowing, Coro... OMIM:620076
Odontochondrodysplasia 1
Respiratory distress, Genu recurvatum, Micromelia, Metaphyseal widening, Pectus carinatum, Narrow... OMIM:184260
Braddock Syndrome
Congenital muscular torticollis, Neonatal respiratory distress, Short neck, Pectus excavatum, Mis... ORPHA:52047
Dyssegmental Dysplasia, Rolland-Desbuquois Type
Bowing of the long bones, Broad long bones, Micromelia, Short neck, Micrognathia, Metaphyseal wid... OMIM:224400
Atelosteogenesis Type Ii
Cervical kyphosis, Micromelia, Short neck, Micrognathia, Narrow chest, Short phalanx of finger, B... ORPHA:56304
Spondylometaphyseal Dysplasia, Axial
Rhizomelia, Anterior rib cupping, Proximal femoral metaphyseal irregularity, Recurrent pneumonia,... OMIM:602271
Basal Cell Nevus Syndrome 1
Vertebral fusion, Short distal phalanx of the thumb, Down-sloping shoulders, Kyphoscoliosis, Hemi... OMIM:109400
Jeune Syndrome
Abnormal clavicle morphology, Toe syndactyly, Micromelia, Postaxial hand polydactyly, Short thora... ORPHA:474
Heyn-Sproul-Jackson Syndrome
11 pairs of ribs, Short metacarpal, Broad phalanx, Short phalanx of finger, Broad metacarpals OMIM:618724
Spondyloepimetaphyseal Dysplasia, Irapa Type
Short metacarpal, Micromelia, Osteoarthritis, Limitation of joint mobility, Abnormal rib morpholo... ORPHA:93351
Pallister-Hall-Like Syndrome
Death in infancy, Toe syndactyly, Micromelia, Micrognathia, Postaxial hand polydactyly, Hip dislo... OMIM:241800
Hereditary Myopathy With Early Respiratory Failure
Skeletal muscle atrophy, Reduced vital capacity, Internally nucleated skeletal muscle fibers, Ort... ORPHA:178464
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Lateral clavicle hook, Postaxial hand polydactyly, Cone-shaped epiphyses of the phalanges of the ... OMIM:615630
Lethal Congenital Contracture Syndrome Type 1
Skeletal muscle atrophy, Recurrent fractures, Short neck, Micrognathia, Limitation of joint mobil... ORPHA:1486
Osteogenesis Imperfecta, Type Ix
Recurrent fractures, Beaded ribs, Pectus excavatum, Kyphosis, Multiple prenatal fractures, Pectus... OMIM:259440
Isolated Klippel-Feil Syndrome
Congenital muscular torticollis, Short neck, Abnormal sacrum morphology, Abnormal rib morphology,... ORPHA:2345
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Respiratory distress, Postaxial hand polydactyly, Abnormal rib morphology, Pulmonary arterial hyp... ORPHA:2519
Odontochondrodysplasia
Respiratory distress, Death in infancy, Bowing of the long bones, Micromelia, Coxa valga, Cone-sh... ORPHA:166272
Mucolipidosis Iii Alpha/Beta
Soft tissue swelling of interphalangeal joints, Craniosynostosis, Irregular carpal bones, Split h... OMIM:252600
Multiple Pterygium Syndrome, Escobar Variant
Multiple joint contractures, Congenital diaphragmatic hernia, Short neck, Micrognathia, Flexion c... OMIM:265000
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Broad toe, Lumbar hyperlordosis, Enlarged metacarpal epiphyses, Cupped ribs, Enlarged epiphyses o... OMIM:609616
Cleidocranial Dysplasia 1
Respiratory distress, Persistent open anterior fontanelle, Micrognathia, Short middle phalanx of ... OMIM:119600
Myotonia With Skeletal Abnormalities And Mental Retardation
Kyphoscoliosis, Irregular femoral epiphysis, Vertebral wedging, Pectus carinatum, Bell-shaped tho... OMIM:255710
Neurogenic Arthrogryposis Multiplex Congenita
Respiratory distress, Skeletal muscle atrophy, Hip contracture, Lower limb muscle weakness, Ankle... ORPHA:1143
Congenital Diaphragmatic Hernia
Respiratory distress, Congenital diaphragmatic hernia, Aplasia/Hypoplasia of the diaphragm, Hypox... ORPHA:2140
Craniodiaphyseal Dysplasia
Craniofacial hyperostosis, Abnormal rib morphology, Diaphyseal thickening ORPHA:1513
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Postaxial polydactyly, Lateral clavicle hook, Respiratory insufficiency, Bell-shaped thorax, Shor... OMIM:615633
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
11 pairs of ribs, Rhizomelia, Metaphyseal cupping of proximal phalanges, Thin ribs, Metaphyseal c... OMIM:300863
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Respiratory distress, Lumbar hyperlordosis, Centrally nucleated skeletal muscle fibers, Spinal ri... ORPHA:86812
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Superior rib anomalies, Abnormality of the cervical spine OMIM:307500
Prieto Syndrome
11 pairs of ribs, Coxa valga, Osteoporosis, Patellar subluxation, Patellar dislocation, Radial de... OMIM:309610
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type
Micromelia, Short neck, Bowing of the legs, Micrognathia, Pectus carinatum, Knee flexion contract... OMIM:271665
Spinal muscular atrophy, type I, with congenital bone fractures
Respiratory distress, Osteopenia, Decreased muscle mass, Congenital hip dislocation, Arachnodacty... OMIM:271225
Pontine Tegmental Cap Dysplasia
Facial palsy, Rib fusion, Hemivertebrae, Ankle clonus, Scoliosis, Aspiration OMIM:614688
Diastrophic Dysplasia
Joint dislocation, Abnormal clavicle morphology, Proximal placement of thumb, Micromelia, Microgn... ORPHA:628
Poland Syndrome
Aplasia/Hypoplasia of the thumb, Congenital diaphragmatic hernia, Short neck, Aplasia of the pect... ORPHA:2911
Meier-Gorlin Syndrome 1
Respiratory distress, Genu recurvatum, Micrognathia, Lateral clavicle hook, Flat glenoid fossa, F... OMIM:224690
Isolated Congenital Hypoglossia/Aglossia
Respiratory distress, Micrognathia, Dyspnea, Aplasia/Hypoplasia of fingers, Upper airway obstruct... ORPHA:141152
Metaphyseal Chondrodysplasia, Schmid Type
Broad proximal phalanges of the hand, Short tubular bones of the hand, Bowing of the legs, Proxim... ORPHA:174
Craniodiaphyseal Dysplasia, Autosomal Dominant
Craniofacial hyperostosis, Thickened ribs, Cortical sclerosis, Craniofacial osteosclerosis, Diaph... OMIM:122860
Spondyloepimetaphyseal Dysplasia, Irapa Type
Metaphyseal dysplasia, Short metacarpal, Lumbar hyperlordosis, Hypoplastic sacrum, Enlargement of... OMIM:271650
Thoraco-Abdominal Enteric Duplication
Camptodactyly of finger, Respiratory insufficiency, Missing ribs ORPHA:1759
Osteogenesis Imperfecta, Type X
Respiratory distress, Osteopenia, Thoracic scoliosis, Micromelia, Micrognathia, Generalized joint... OMIM:613848
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type
Dysplastic iliac wing, Lumbar hyperlordosis, Ovoid vertebral bodies, Metaphyseal spurs, Bowing of... OMIM:608728
Perching Syndrome
Respiratory distress, Joint contracture, Scoliosis, Camptodactyly OMIM:617055
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Vertebral fusion, Block vertebrae, Short neck, Missing ribs, Rib fusion, Hemivertebrae, Thin ribs... OMIM:271520
Pelvis-Shoulder Dysplasia
Aplasia/Hypoplasia of the ribs, Aplasia/Hypoplasia of the clavicles, Long clavicles, Lumbar hyper... ORPHA:2839
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
Beaking of vertebral bodies, Vertebral fusion, Sacral dimple, Hyperextensibility of the finger jo... OMIM:213980
Myotubular Myopathy With Abnormal Genital Development
Respiratory distress, Death in infancy, Centrally nucleated skeletal muscle fibers, Thin ribs, My... OMIM:300219
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies
Pectus excavatum, Hypoplastic distal segments of scapulae, Abnormal rib morphology, Micrognathia OMIM:602196
Nail-Patella Syndrome
Back pain, Biceps aplasia, Glenoid fossa hypoplasia, Absence of pectoralis minor muscle, Patellar... OMIM:161200
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3
Joint laxity, Hypoplasia of the ulna, Short neck, Tapered finger, Multiple joint dislocation, Hip... OMIM:618395
Spondylometaphyseal Dysplasia, Sedaghatian Type
Short neck, Delayed epiphyseal ossification, Long fibula, Narrow chest, Narrow greater sciatic no... OMIM:250220
Spondylometaphyseal Dysplasia, Kozlowski Type
Enlarged joints, Irregular, rachitic-like metaphyses, Short neck, Coxa vara, Pectus carinatum, Ha... OMIM:184252
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly
Syndactyly, Postaxial polydactyly, Lateral clavicle hook, Preaxial polydactyly, Femoral bowing, S... OMIM:615503
Congenital Disorder Of Glycosylation, Type Iig
Osteopenia, Thoracic scoliosis, Rhizomelia, Kyphoscoliosis, Short neck, Broad femoral neck, Micro... OMIM:611209
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Respiratory distress, Facial palsy, Micrognathia, Respiratory insufficiency due to muscle weaknes... OMIM:300580
Grant Syndrome
Joint dislocation, Bowing of the long bones, Micrognathia, Abnormal cortical bone morphology, Abn... ORPHA:2097
Van Den Ende-Gupta Syndrome
Glenoid fossa hypoplasia, Micrognathia, Lateral clavicle hook, 2-3 toe cutaneous syndactyly, Knee... OMIM:600920
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita
Reduced vital capacity, Short neck, Kyphosis, Flexion contracture, Respiratory insufficiency, Bel... ORPHA:178148
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 2
11 pairs of ribs, Rhizomelia, Hemivertebrae, Vertebral segmentation defect, Narrow chest OMIM:617661
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Abnormal clavicle morphology, Bowing of the long bones, Rhizomelia, Proximal placement of thumb, ... ORPHA:93267
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Hypoplasia of the ulna, Thoracic hypoplasia, Metaphyseal spurs, Postaxial polydactyly, Lateral cl... OMIM:613091
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Death in infancy, Hypoplasia of the ulna, Lateral clavicle hook, Early ossification of capital fe... OMIM:208500
Dyggve-Melchior-Clausen Disease
Glenoid fossa hypoplasia, Short neck, Coxa vara, Pectus carinatum, Broad ribs, Iliac crest serrat... ORPHA:239
Schneckenbecken Dysplasia
Hypoplastic scapulae, Increased fibular diameter, Dumbbell-shaped long bone, Short neck, Lateral ... ORPHA:3144
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Respiratory distress, Distal amyotrophy, Kyphoscoliosis OMIM:619099
Autosomal Recessive Multiple Pterygium Syndrome
Skeletal muscle atrophy, Neonatal respiratory distress, Finger syndactyly, Camptodactyly of finge... ORPHA:2990
Proximal 16P11.2 Microdeletion Syndrome
Craniosynostosis, Congenital diaphragmatic hernia, Micrognathia, Rib fusion, Hand polydactyly, Sc... ORPHA:261197
Metaphyseal Chondrodysplasia, Jansen Type
Osteopenia, Hip contracture, Bowing of the long bones, Micrognathia, Metaphyseal chondrodysplasia... OMIM:156400
Hyperparathyroidism, Transient Neonatal
Respiratory distress, Osteopenia, Wide cranial sutures, Short femur, Recurrent fractures, Metaphy... OMIM:618188
Pleural Mesothelioma
Respiratory distress, Dyspnea, Abnormal thorax morphology, Abnormal respiratory system physiology... ORPHA:50251
Kniest Dysplasia
Respiratory distress, Enlarged joints, Short neck, Delayed epiphyseal ossification, Coxa vara, Ti... OMIM:156550
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Syndactyly, Brachydactyly, Hypoplastic scapulae, Bowing of the long bones, Postaxial polydactyly,... OMIM:614091
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Short metacarpal, Rhizomelia, Ovoid vertebral bodies, Joint stiffness, Cupped ribs, Metaphyseal w... OMIM:608940
Diaphanospondylodysostosis
Delayed vertebral ossification, Respiratory distress, Absent in utero ossification of vertebral b... OMIM:608022
Thin Ribs-Tubular Bones-Dysmorphism Syndrome
Slender long bone, Abnormal pelvic girdle bone morphology, Abnormal rib morphology ORPHA:1506
Lethal Congenital Contracture Syndrome 1
Skeletal muscle atrophy, Hypoplasia of the musculature, Micrognathia, Abnormal thorax morphology,... OMIM:253310
Aicardi Syndrome
Block vertebrae, Missing ribs, Rib fusion, Small hand, Hip dysplasia, Supernumerary ribs, Scolios... ORPHA:50
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Apnea, Micrognathia, Proximal femoral metaphyseal irregularity, Tachypnea, Early ossification of ... ORPHA:397715
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods
Fusion of midcervical facet joints, Cervical vertebral bodies with decreased anteroposterior diam... OMIM:606842
Hypersulfaturia
Costochondral pain OMIM:620372
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Aplasia of the distal phalanx of the 2nd finger, 2-5 finger syndactyly, Syndactyly, Hypoplastic s... OMIM:308050
Myasthenic Syndrome, Congenital, 6, Presynaptic
Respiratory distress, Sudden episodic apnea, Respiratory insufficiency due to muscle weakness, Ap... OMIM:254210
Myopathy And Diabetes Mellitus
Distal lower limb amyotrophy, Respiratory distress, Achilles tendon contracture, Proximal amyotro... ORPHA:2596
Nemaline Myopathy 2
Skeletal muscle atrophy, Apnea, Fatty replacement of skeletal muscle, Flexion contracture, Congen... OMIM:256030
Ellis-Van Creveld Syndrome
Capitate-hamate fusion, Postaxial hand polydactyly, Pectus carinatum, Postaxial foot polydactyly,... OMIM:225500
Myasthenic Syndrome, Congenital, 4A, Slow-Channel
Respiratory distress, Sudden episodic apnea, Respiratory insufficiency due to muscle weakness, Ty... OMIM:605809
Spondyloepiphyseal Dysplasia Congenita
Barrel-shaped chest, Respiratory distress, Lumbar hyperlordosis, Ovoid vertebral bodies, Limited ... OMIM:183900
Hypomyelination Neuropathy-Arthrogryposis Syndrome
Respiratory distress, Limitation of joint mobility ORPHA:2680
Aicardi Syndrome
Block vertebrae, Proximal placement of thumb, Missing ribs, Recurrent pneumonia, Hemivertebrae, R... OMIM:304050
Spondyloepimetaphyseal Dysplasia, Strudwick Type
Brachydactyly, Club-shaped proximal femur, Anterior rib cupping, Hyperlordosis, Hypoplasia of the... OMIM:184250
Blomstrand Lethal Chondrodysplasia
Short metacarpal, Increased bone mineral density, Bowing of the long bones, Rhizomelia, Aplastic ... ORPHA:50945
Osteogenesis Imperfecta, Type Ii
Crumpled long bones, Broad long bones, Wormian bones, Recurrent fractures, Beaded ribs, Multiple ... OMIM:166210
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant
Respiratory distress, Skeletal muscle atrophy, Thoracic scoliosis, Death in infancy, Abnormality ... OMIM:620278
Congenital Myopathy 3 With Rigid Spine
Reduced vital capacity, Facial palsy, Centrally nucleated skeletal muscle fibers, Spinal rigidity... OMIM:602771
Congenital Contractures Of The Limbs And Face, Hypotonia, And Developmental Delay
11 pairs of ribs, Hip contracture, Neonatal respiratory distress, Short neck, Metatarsus adductus... OMIM:616266
Osteogenesis Imperfecta, Type Xv
Recurrent fractures, Thin ribs, Platyspondyly, Bowing of limbs due to multiple fractures, Scolios... OMIM:615220
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Microretrognathia, Rhizomelia, Postaxial polydactyly, Unicoronal synostosis, Squared iliac bones,... OMIM:616300
Pseudoachondroplasia
Limited hip extension, Genu recurvatum, Spatulate ribs, Delayed epiphyseal ossification, Osteoart... OMIM:177170
Severe X-Linked Mitochondrial Encephalomyopathy
Respiratory distress, Skeletal muscle atrophy, Increased variability in muscle fiber diameter, Re... ORPHA:238329
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2
Vertebral segmentation defect, Abnormal rib morphology, Short neck ORPHA:2578
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Death in infancy, Congenital diaphragmatic hernia, Proximal placement of thumb, Abnormal thumb mo... ORPHA:1120
Spondyloepimetaphyseal Dysplasia, Missouri Type
Radial bowing, Rhizomelia, Irregular sclerotic endplates, Osteoarthritis, Ulnar bowing, Flared me... OMIM:602111
Klippel-Feil Syndrome 1, Autosomal Dominant
Congenital muscular torticollis, Short neck, Abnormal rib morphology, Scoliosis, Cervical C2/C3 v... OMIM:118100
Melnick-Needles Syndrome
Craniofacial hyperostosis, Bowing of the long bones, Delayed cranial suture closure, Coxa valga, ... ORPHA:2484
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Abnormal clavicle morphology, Hyperlordosis, Pectus excavatum, Short neck, Kyphosis, Micrognathia... ORPHA:2522
Atelosteogenesis, Type I
Short neck, Micrognathia, Short metatarsal, Tibial bowing, Knee dislocation, Narrow chest, Neonat... OMIM:108720
Radio-Renal Syndrome
Respiratory distress, Micromelia, Short neck, Micrognathia, Dyspnea, Hypoplasia of the radius, Ab... ORPHA:3015
Mosaic Trisomy 14
Camptodactyly of finger, Micrognathia, Short neck, Abnormal rib morphology, Narrow chest ORPHA:1703
Noonan Syndrome 12
11 pairs of ribs, Pectus excavatum, Spinal canal stenosis, Proximal placement of thumb OMIM:618624
Lethal Osteosclerotic Bone Dysplasia
Respiratory distress, Micrognathia, Short neck, Dyspnea, Respiratory failure, Mandibular aplasia,... ORPHA:1832
Axial Mesodermal Dysplasia Spectrum
Abnormality of the knee, Congenital diaphragmatic hernia, Short neck, Missing ribs, Micrognathia,... ORPHA:1834
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6
Respiratory distress, Skeletal muscle atrophy, Paradoxical respiration, Plantar flexion contractu... OMIM:620011
Hypophosphatasia
Bowing of the long bones, Recurrent fractures, Craniosynostosis, Abnormal rib morphology, Respira... ORPHA:436
Holt-Oram Syndrome
Abnormal clavicle morphology, Finger syndactyly, Down-sloping shoulders, Absent thumb, Pectus exc... ORPHA:392
Congenital Disorder Of Glycosylation, Type Ig
Respiratory distress, Short humerus, Short femur, Sandal gap, Rhizomelia, Recurrent pneumonia, Hy... OMIM:607143
Lethal Congenital Contracture Syndrome 5
Death in infancy, Centrally nucleated skeletal muscle fibers, Flexion contracture, Respiratory in... OMIM:615368
Autosomal Dominant Centronuclear Myopathy
Proximal muscle weakness in upper limbs, Miscarriage, Centrally nucleated skeletal muscle fibers,... ORPHA:169189
Robinow Syndrome, Autosomal Recessive 1
Short neck, Micrognathia, Hemivertebrae, Short palm, Thoracic hemivertebrae, Duplication of the d... OMIM:268310
Short-Rib Thoracic Dysplasia 12
Hypoplastic scapulae, Short neck, Bowing of the legs, Short toe, Short thorax, Respiratory insuff... OMIM:269860
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Finger syndactyly, Abnormal scapula morphology, Congenital diaphragmatic hernia, Aplasia/hypoplas... ORPHA:2141
Mucopolysaccharidosis, Type Iva
Short neck, Epiphyseal deformities of tubular bones, Metaphyseal widening, Pectus carinatum, Ante... OMIM:253000
Weaver Syndrome
Short fourth metatarsal, Calcaneovalgus deformity, Hypoplastic iliac wing, Prominent fingertip pa... OMIM:277590
Shwachman-Diamond Syndrome 1
Myocardial necrosis, Respiratory distress, Neonatal respiratory distress, Anterior rib cupping, O... OMIM:260400
Juberg-Hayward Syndrome
Toe syndactyly, Short thumb, Hypoplasia of the radius, Abnormal finger morphology, Abnormal rib m... ORPHA:2319
Achondrogenesis Type 1B
Micromelia, Abnormal enchondral ossification, Short neck, Micrognathia, Short thorax, Abnormal ri... ORPHA:93298
Thoracic Outlet Syndrome
Abnormal rib morphology ORPHA:97330
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome
Short neck, Abnormal rib morphology, Hemivertebrae, Abnormal form of the vertebral bodies, Abnorm... ORPHA:2234
10Q22.3Q23.3 Microduplication Syndrome
Microretrognathia, Abnormal clavicle morphology, Abnormal rib morphology ORPHA:276422
Cdags Syndrome
Sagittal craniosynostosis, Kyphosis, Short ribs, Lambdoidal craniosynostosis, Short clavicles, Co... OMIM:603116
Dyggve-Melchior-Clausen Disease
Short neck, Metaphyseal widening, Flat glenoid fossa, Short metatarsal, Pectus carinatum, Femoral... OMIM:223800
Caudal Regression Syndrome
Decreased muscle mass, Missing ribs, Joint stiffness, Aplasia/Hypoplasia of the sacrum, Abnormal ... ORPHA:3027
Bronchopulmonary Dysplasia
Respiratory distress, Central apnea, Respiratory failure requiring assisted ventilation, Dyspnea,... ORPHA:70589
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Postaxial polydactyly, Short neck, Lateral clavicle hook, Micrognathia, Preaxial polydactyly, Hyp... OMIM:617925
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency
Respiratory distress, Respiratory failure requiring assisted ventilation, Ragged-red muscle fiber... ORPHA:254864
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Respiratory distress, Osteopenia, Osteomyelitis, Periostitis, Osteolysis, Fused cervical vertebra... OMIM:612852
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Short neck, Micrognathia, Flexion contracture, Hemivertebrae, Tibial bowing, Narrow chest, Hypopl... ORPHA:96334
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Lateral clavicle hook, Preaxial hand polydactyly, Postaxial hand polydactyly, Pectus carinatum, D... OMIM:263520
Becker Nevus Syndrome
Pectus excavatum, Cervical ribs, Hemivertebrae, Scoliosis OMIM:604919
Osteogenesis Imperfecta, Type Xvi
Osteopenia, Multiple rib fractures, Angulated humerus, Bowing of the long bones, Microretrognathi... OMIM:616229
Meier-Gorlin Syndrome 3
Microretrognathia, Absent sternal ossification, Aplasia/Hypoplasia of the patella, Micrognathia, ... OMIM:613803
Otopalatodigital Syndrome, Type Ii
Congenital hip dislocation, Elbow contracture, Short neck, Micrognathia, Short metatarsal, Femora... OMIM:304120
Osteogenesis Imperfecta, Type Iii
Recurrent fractures, Protrusio acetabuli, Severe generalized osteoporosis, Multiple prenatal frac... OMIM:259420
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome
Skeletal muscle atrophy, Craniofacial hyperostosis, Facial palsy, Abnormal muscle fiber morpholog... ORPHA:3068
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction
11 pairs of ribs, Hyperextensibility of the finger joints, Neonatal respiratory distress, Microgn... OMIM:618356
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Respiratory distress, Short metacarpal, Brachydactyly, Sandal gap, Postaxial polydactyly, Short t... OMIM:617102
Laryngotracheoesophageal Cleft Type 4
Respiratory insufficiency, Abnormal rib morphology, Abnormal form of the vertebral bodies ORPHA:93941
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Respiratory distress, Skeletal muscle atrophy, Spinal muscular atrophy, Respiratory insufficiency... ORPHA:254875
Severe Congenital Nemaline Myopathy
Skeletal muscle atrophy, Facial palsy, Multiple prenatal fractures, Abnormal thorax morphology, F... ORPHA:171430
Congenital Disorder Of Glycosylation, Type Iy
Respiratory distress, Joint dislocation, Micrognathia, Scoliosis, Clinodactyly OMIM:300934
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Congenital diaphragmatic hernia, Aplastic clavicle, Short neck, Postaxial polydactyly, Micromelia... OMIM:616546
Ossification Anomalies-Psychomotor Developmental Delay Syndrome
Decreased muscle mass, Micrognathia, Abnormal thorax morphology, Metaphyseal widening, Abnormal f... ORPHA:73230
Spondylometaphyseal Dysplasia, Kozlowski Type
Short tubular bones of the hand, Increased intervertebral space, Delayed epiphyseal ossification,... ORPHA:93314
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy
Skeletal muscle atrophy, Short neck, Metaphyseal widening, Flexion contracture, Coxa vara, Metaph... OMIM:300232
Acrorenal-Mandibular Syndrome
Congenital diaphragmatic hernia, Micrognathia, Hemivertebrae, Narrow chest, Hypoplasia of the uln... OMIM:200980
White Forelock With Malformations
Finger syndactyly, Abnormal rib morphology, Joint hyperflexibility, Clinodactyly of the 5th finge... ORPHA:2475
Lymphangiectasia, Intestinal
Stillbirth, Prominent floating ribs OMIM:152800
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive
Respiratory failure requiring assisted ventilation, Death in infancy, Nemaline bodies, Increased ... OMIM:620265
Congenital Pseudoarthrosis Of The Clavicle
Congenital pseudoarthrosis of the clavicle, Cervical ribs ORPHA:66630
Achondrogenesis Type 1A
Multiple rib fractures, Recurrent fractures, Micromelia, Short neck, Abnormal enchondral ossifica... ORPHA:93299
3M Syndrome
Congenital hip dislocation, Micromelia, Short neck, Increased vertebral height, Enlarged thorax, ... ORPHA:2616
Microcephaly-Micromelia Syndrome
Craniosynostosis, Short neck, Missing ribs, Absent thumb, Absent radius, Humeroradial synostosis,... OMIM:251230
Campomelic Dysplasia
11 pairs of ribs, Poorly ossified cervical vertebrae, Bowing of the long bones, Small abnormally ... ORPHA:140
Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures
Respiratory distress, Joint contracture, Kyphoscoliosis OMIM:617977
Osteogenesis Imperfecta, Type Xviii
Joint laxity, Bowing of the long bones, Thin bony cortex, Recurrent fractures, Joint hypermobilit... OMIM:617952
Congenital Myopathy 22B, Severe Fetal
Respiratory distress, Thoracic scoliosis, Short neck, Micrognathia, Flexion contracture, Generali... OMIM:620369
Muscular Hypertonia, Lethal
Respiratory distress, Death in infancy, Pneumonia OMIM:254120
Cog1-Cdg
Osteopenia, Irregularity of vertebral bodies, Rhizomelia, Kyphoscoliosis, Short neck, Coxa valga,... ORPHA:263508
Congenital Disorder Of Glycosylation, Type Iu
Respiratory distress, Death in infancy, Neonatal respiratory distress, Micrognathia, Congenital c... OMIM:615042
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
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome
Broad hallux phalanx, Toe syndactyly, Short neck, Metatarsus valgus, Kyphosis, Postaxial hand pol... ORPHA:3082
Oculocerebrocutaneous Syndrome
Finger syndactyly, Congenital hip dislocation, Congenital diaphragmatic hernia, Missing ribs, Apl... ORPHA:1647
Microcephaly, Short Stature, And Limb Abnormalities
11 pairs of ribs, Short metacarpal, Brachydactyly, Hypoplasia of the radius, Patellar aplasia, Pa... OMIM:617604
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities
11 pairs of ribs, Broad hallux, Short neck, Clinodactyly of the 2nd toe, Coxa valga, Micrognathia... OMIM:620073
Mucopolysaccharidosis, Type X
Irregular acetabular roof, Spatulate ribs, Broad clavicles, Hyperlordosis, Genu valgum, Platyspon... OMIM:619698
Multiple Pterygium Syndrome, X-Linked
Joint dislocation, Vertebral fusion, Abnormal cervical curvature, Multiple pterygia, Micrognathia... OMIM:312150
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
Short neck, Micrognathia, Metaphyseal widening, Flexion contracture, Delayed proximal femoral epi... OMIM:271640
Kbg Syndrome
Vertebral fusion, Syndactyly, Short neck, Rib fusion, Vertebral arch anomaly, Cutaneous syndactyl... OMIM:148050
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Death in infancy, Rhizomelia, Micrognathia, Hypoplastic iliac wing, Metaphyseal chondrodysplasia,... ORPHA:163966
Shprintzen-Goldberg Syndrome
Osteopenia, Bowing of the long bones, Apnea, Camptodactyly of finger, Arachnodactyly, Missing rib... ORPHA:2462
Femoral-Facial Syndrome
Short fourth metatarsal, Limited elbow movement, Micrognathia, Hemivertebrae, Dysplastic sacrum, ... OMIM:134780
Phaver Syndrome
Broad hallux phalanx, Camptodactyly of finger, Joint stiffness, Short thumb, Abnormal rib morphol... ORPHA:2876
Autosomal Recessive Robinow Syndrome
Short neck, Micrognathia, Pectus carinatum, Vertebral segmentation defect, Clinodactyly of the 5t... ORPHA:1507
Acro-Renal-Mandibular Syndrome
Abnormal clavicle morphology, Hypoplasia of the ulna, Hypoplastic scapulae, Finger syndactyly, Co... ORPHA:958
X-Linked Intellectual Disability-Dysmorphism-Cerebral Atrophy Syndrome
Coxa valga, Osteoporosis, Finger clinodactyly, Patellar subluxation, Supernumerary ribs ORPHA:2958
Phosphoribosylaminoimidazole Carboxylase Deficiency
Short neck, Missing ribs, Lumbar hemivertebrae, Clinodactyly of the 5th finger, Neonatal death OMIM:619859
Familial Osteodysplasia, Anderson Type
Recurrent fractures, Aplastic clavicle, Missing ribs, Elbow dislocation, Kyphosis, Abnormal rib m... ORPHA:2769
Microcephalic Primordial Dwarfism, Toriello Type
Abnormal rib morphology, Abnormal epiphysis morphology, Brachydactyly ORPHA:2643
Microlissencephaly-Micromelia Syndrome
11 pairs of ribs, Respiratory distress, Micromelia, Short neck, Adducted thumb ORPHA:50810
Cat-Eye Syndrome
Hip dysplasia, Abnormal rib morphology ORPHA:195
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Sandal gap, Abnormal rib morphology, Hemivertebrae, Abnormal form of the vertebral bodies, Scolio... ORPHA:2180
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Respiratory distress, Postaxial polydactyly, Postaxial hand polydactyly, Aplasia of the epiglotti... OMIM:617088
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Osteopenia, Congenital diaphragmatic hernia, Short neck, Micrognathia, Multiple joint dislocation... OMIM:245600
Ulbright-Hodes Syndrome
Respiratory distress, Short humerus, Short metacarpal, Short neck, Micrognathia, Pneumothorax, Ab... ORPHA:3404
1P36 Deletion Syndrome
11 pairs of ribs, Camptodactyly of finger, Joint stiffness, Kyphosis, Rib fusion, Spinal canal st... ORPHA:1606
Multiple Pterygium Syndrome, Lethal Type
Joint dislocation, Vertebral fusion, Abnormal cervical curvature, Multiple pterygia, Micrognathia... OMIM:253290
Brachytelephalangic Chondrodysplasia Punctata
Cervical kyphosis, Tachypnea, Hypoplastic cervical vertebrae, Vertebral hypoplasia, Neonatal resp... ORPHA:79345
Cardiomyopathy, Dilated, 1Gg
Respiratory distress, Left ventricular noncompaction OMIM:613642
Synaptic Congenital Myasthenic Syndromes
Respiratory distress, Skeletal muscle atrophy, Scapular winging, Hypoventilation, Neonatal respir... ORPHA:98915
Gaucher Disease Type 2
Respiratory distress, Flexion contracture, Abnormal pattern of respiration, Cough ORPHA:77260
Focal Dermal Hypoplasia
Finger syndactyly, Toe syndactyly, Diastasis recti, Camptodactyly of finger, Congenital diaphragm... ORPHA:2092
Osteogenesis Imperfecta, Type Xxi
Barrel-shaped chest, Recurrent fractures, Bowing of the legs, Pectus excavatum, Coxa valga, Osteo... OMIM:619131
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Abnormally ossified vertebrae, Radial bowing, Bowing of the long bones, Micrognathia, Abnormal ri... ORPHA:3035
Spondylometaphyseal Dysplasia, Algerian Type
Metaphyseal dysplasia, Lumbar hyperlordosis, Bowed humerus, Anterior rib cupping, Kyphoscoliosis,... OMIM:184253
Mucolipidosis Iii Gamma
Hyperlordosis, Short neck, Kyphosis, Joint stiffness, Flat capital femoral epiphysis, Pectus cari... OMIM:252605
Developmental And Epileptic Encephalopathy 30
Respiratory distress, Death in infancy OMIM:616341
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly
Joint dislocation, Knee flexion contracture, Femoral bowing, Short 5th metacarpal, Radial bowing,... OMIM:618019
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Recurrent fractures, Micromelia, Abnormal rib morphology, Joint hyperflexibility, Decreased calva... ORPHA:2772
Wolf-Hirschhorn Syndrome
Rib segmentation abnormalities, Hypoplastic pubic ramus, Sacral dimple, Arachnodactyly, Congenita... ORPHA:280
Mucopolysaccharidosis Type 6
Epiphyseal dysplasia, Sinusitis, Ovoid vertebral bodies, Short neck, Joint stiffness, Kyphosis, G... ORPHA:583
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Sprengel anomaly, Abnormality of the vertebral column, Abnormal rib morphology, Micrognathia OMIM:601076
Microphthalmia, Syndromic 3
Vertebral fusion, Missing ribs, Rib fusion, Hemivertebrae, Supernumerary ribs, Butterfly vertebra... OMIM:206900
Pallister-Hall Syndrome
Syndactyly, Mesoaxial foot polydactyly, Toe syndactyly, Mesoaxial hand polydactyly, Postaxial han... OMIM:146510
Cole-Carpenter Syndrome
Crumpled long bones, Bowing of the long bones, Recurrent fractures, Micrognathia, Kyphosis, Abnor... ORPHA:2050
Frontometaphyseal Dysplasia 1
Carpal synostosis, Skeletal muscle atrophy, Limited elbow movement, Absent frontal sinuses, Knee ... OMIM:305620
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
11 pairs of ribs, Osteopenia, Sandal gap, Pectus excavatum, Short toe, Prominent sternum, Clinoda... OMIM:617877
Septopreoptic Holoprosencephaly
Abnormal rib morphology, Abnormal vertebral morphology ORPHA:280195
X-Linked Centronuclear Myopathy
Respiratory distress, Respiratory failure requiring assisted ventilation, Pneumonia, Weakness of ... ORPHA:596
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
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Osteopenia, Increased bone mineral density, Broad femoral neck, Short tubular bones of the hand, ... ORPHA:85184
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Bulging epiphyses, Thin bony cortex, Enlargement of the ankles, Recurrent fractures, Bowing of th... OMIM:600081
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development
Craniosynostosis, Micrognathia, Thin ribs, Slender long bone, Decreased calvarial ossification, A... OMIM:618265
Cree Mental Retardation Syndrome
Aplasia/Hypoplasia of the ribs, Rocker bottom foot, Micrognathia, Pectus excavatum, Cutaneous fin... OMIM:606851
Klippel-Feil Syndrome 3, Autosomal Dominant
Thoracic scoliosis, Cervical C3/C4 vertebral fusion, Cervical C5/C6 vertebrae fusion OMIM:613702
Spondylometaphyseal Dysplasia, Sedaghatian Type
Short metacarpal, Abnormal scapula morphology, Iliac crest serration, Metaphyseal chondrodysplasi... ORPHA:93317
Osteogenesis Imperfecta, Type Viii
Barrel-shaped chest, Osteopenia, Joint laxity, Short metacarpal, Radial bowing, Recurrent fractur... OMIM:610915
Restrictive Dermopathy 2
Respiratory distress, Microretrognathia, Overtubulated long bones, Short clavicles OMIM:619793
Schinzel-Giedion Midface Retraction Syndrome
Sacrococcygeal teratoma, Long clavicles, Increased density of long bones, Short neck, Wide distal... OMIM:269150
Autosomal Recessive Kenny-Caffey Syndrome
Stenosis of the medullary cavity of the long bones, Thin clavicles, Small hand, Thin ribs, Short ... ORPHA:93324
Acrofacial Dysostosis Syndrome Of Rodriguez
11 pairs of ribs, Overlapping toe, Micrognathia, Fibular hypoplasia, Triphalangeal thumb, Short t... OMIM:201170
Craniosynostosis, Herrmann-Opitz Type
Finger syndactyly, Craniosynostosis, Micromelia, Micrognathia, Split hand, Abnormal rib morpholog... ORPHA:2145
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Respiratory distress, Osteopenia, Multiple joint contractures, Micrognathia, Metaphyseal widening... ORPHA:536467
Ritscher-Schinzel Syndrome 1
Syndactyly, Micrognathia, Hemivertebrae, Missing ribs OMIM:220210
Congenital Myasthenic Syndrome
Neuropathic spinal arthropathy, Joint laxity, Microretrognathia, Congenital hip dislocation, Sudd... ORPHA:590
Presynaptic Congenital Myasthenic Syndromes
Neuropathic spinal arthropathy, Joint laxity, Microretrognathia, Congenital hip dislocation, Sudd... ORPHA:98914
Acrofacial Dysostosis 1, Nager Type
Aplasia/Hypoplasia of the thumb, Congenital diaphragmatic hernia, Micrognathia, Hypoplasia of fir... OMIM:154400
Chitayat Syndrome
Hallux valgus, Respiratory distress, Pectus excavatum, Tracheomalacia, Brachydactyly OMIM:617180
Joubert Syndrome 21
Apnea, Dyspnea, Bell-shaped thorax, Respiratory failure, Short ribs, Chronic sinusitis OMIM:615636
Mucopolysaccharidosis, Type Ivb
Epiphyseal deformities of tubular bones, Metaphyseal widening, Flaring of rib cage, Joint laxity,... OMIM:253010
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome
Respiratory distress ORPHA:171703
Three M Syndrome 2
Scapular winging, Lumbar hyperlordosis, Short neck, Hyperlordosis, Short thorax, Thin ribs, Pectu... OMIM:612921
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Osteopenia, Short neck, Micrognathia, Short metatarsal, Narrow chest, Clinodactyly of the 5th fin... OMIM:266920
Campomelic Dysplasia
Respiratory distress, Thoracic scoliosis, Apnea, Cervical kyphosis, Anterior tibial bowing, Micro... OMIM:114290
Renpenning Syndrome
Skeletal muscle atrophy, Joint stiffness, Pectus excavatum, Abnormal thumb morphology, Abnormal r... ORPHA:3242
Kniest Dysplasia
Arthropathy, Enlarged epiphyses, Enlarged joints, Abnormality of the epiphysis of the femoral hea... ORPHA:485
Aspergillosis
Sinusitis, Osteomyelitis, Pneumonia, Dyspnea, Asthma, Chronic pulmonary obstruction, Abnormal rib... ORPHA:1163
Immunodeficiency 95
Respiratory distress, Respiratory failure, Recurrent viral pneumonia OMIM:619773
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Respiratory distress, Myopathy ORPHA:91130
Cleidocranial Dysplasia
Sinusitis, Micrognathia, Coxa vara, Narrow chest, Hypoplastic inferior ilia, Clinodactyly of the ... ORPHA:1452
Tetraamelia-Multiple Malformations Syndrome
Abnormally ossified vertebrae, Micrognathia, Missing ribs, Abnormal rib morphology, Aplasia/Hypop... ORPHA:3301
Moebius Syndrome
Respiratory distress, Syndactyly, Brachydactyly, Short neck, Micrognathia, Split hand, Congenital... OMIM:157900
Diamond-Blackfan Anemia 10
Respiratory distress, Congenital diaphragmatic hernia, Micrognathia, Morgagni diaphragmatic herni... OMIM:613309
Seckel Syndrome 5
11 pairs of ribs, Micrognathia, Short middle phalanx of finger, Scoliosis, Clinodactyly of the 5t... OMIM:613823
Arthrogryposis Multiplex Congenita 5
11 pairs of ribs, Death in infancy, Neonatal respiratory distress, Rocker bottom foot, Kyphoscoli... OMIM:618947
Klippel-Feil Syndrome 2, Autosomal Recessive
Short neck, Fused cervical vertebrae, Scoliosis, Cervical C2/C3 vertebral fusion, Sprengel anomaly OMIM:214300
Seckel Syndrome 1
11 pairs of ribs, Ivory epiphyses, Sandal gap, Abnormal finger flexion crease, Micrognathia, Elbo... OMIM:210600
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Respiratory distress, Central apnea, Lumbar hyperlordosis, Rhizomelia, Kyphosis, Femoral bowing, ... OMIM:616482
Brown-Vialetto-Van Laere Syndrome 1
Hand muscle atrophy, Skeletal muscle atrophy, Respiratory distress, Respiratory failure requiring... OMIM:211530
Bardet-Biedl Syndrome 16
Respiratory distress, Polydactyly OMIM:615993
Kenny-Caffey Syndrome, Type 1
Long clavicles, Delayed closure of the anterior fontanelle, Thin clavicles, Small hand, Thin ribs... OMIM:244460
Cardiospondylocarpofacial Syndrome
Joint laxity, Tarsal synostosis, Congenital diaphragmatic hernia, Rib fusion, Cone-shaped epiphys... OMIM:157800
3C Syndrome
Death in infancy, Finger syndactyly, Short neck, Missing ribs, Kyphosis, Micrognathia, Hemiverteb... ORPHA:7
Cole-Carpenter Syndrome 2
Osteopenia, Microretrognathia, Wide cranial sutures, Recurrent fractures, Pectus excavatum, Kypho... OMIM:616294
Short Chain Acyl-Coa Dehydrogenase Deficiency
Respiratory distress, Myopathy ORPHA:26792
Cenani-Lenz Syndrome
Hypoplasia of the ulna, Finger syndactyly, Toe syndactyly, Micromelia, Elbow dislocation, Short t... ORPHA:3258
Hallermann-Streiff Syndrome
Recurrent fractures, Micrognathia, Small hand, Respiratory insufficiency, Reduced bone mineral de... ORPHA:2108
Cranioectodermal Dysplasia 2
Joint laxity, Syndactyly, Rhizomelia, Craniosynostosis, Short neck, Pectus excavatum, Micrognathi... OMIM:613610
Cartilage-Hair Hypoplasia
Micromelia, Short neck, Metaphyseal chondrodysplasia, Abnormal form of the vertebral bodies, Pect... ORPHA:175
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Respiratory distress, Ragged-red muscle fibers, Respiratory insufficiency due to muscle weakness,... OMIM:613561
Prune Belly Syndrome
Congenital hip dislocation, Pectus excavatum, Abnormal rib morphology, Aplasia of the abdominal w... ORPHA:2970
Campomelia, Cumming Type
Death in infancy, Abnormally ossified vertebrae, Bowing of the long bones, Micromelia, Abnormal t... ORPHA:1318
Hernia, Anterior Diaphragmatic
Neonatal death, Congenital diaphragmatic hernia OMIM:306950
Kyphomelic Dysplasia
Short humerus, Short metacarpal, Radial bowing, Short femur, Anterior rib cupping, Bowed humerus,... OMIM:211350
Cranioectodermal Dysplasia 1
Joint laxity, Broad toe, Brachydactyly, Short humerus, Rhizomelia, Sagittal craniosynostosis, Bro... OMIM:218330
Antley-Bixler Syndrome
Arachnodactyly, Camptodactyly of finger, Recurrent fractures, Craniosynostosis, Joint stiffness, ... ORPHA:83
Combined Oxidative Phosphorylation Deficiency 30
Left ventricular hypertrophy, Death in infancy, Respiratory distress OMIM:616974
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
Coat hanger sign of ribs, Diastasis recti, Thoracic hypoplasia ORPHA:254534
Congenital Myopathy 22A, Classic
Thoracic scoliosis, Micrognathia, Ragged-red muscle fibers, Generalized amyotrophy, Neonatal deat... OMIM:620351
Chromosome 1P36 Deletion Syndrome, Distal
11 pairs of ribs, Camptodactyly of finger, Delayed closure of the anterior fontanelle, Metatarsus... OMIM:607872
Lethal Congenital Contracture Syndrome 10
Torticollis, Thoracic scoliosis, Stiff neck, Overlapping fingers, Short neck, Micrognathia, Incre... OMIM:617022
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Thoracic scoliosis, Short neck, Micrognathia, Generalized joint laxity, Thoracic kyphosis, Hyperm... ORPHA:508498
Short Stature And Facioauriculothoracic Malformations
Abnormal odontoid process morphology, Short neck, Pectus excavatum, Pectus carinatum, Cervical ribs OMIM:609654
Congenital Disorder Of Glycosylation, Type Ie
Respiratory distress, Short palm, Ankle flexion contracture, Micrognathia, Small hand, Upper limb... OMIM:608799
Craniometadiaphyseal Dysplasia
Osteopenia, Broad long bones, Coxa valga, Cubitus valgus, Flared metaphysis, Genu valgum, Scleros... OMIM:269300
Mucopolysaccharidosis, Type Iiia
Thickened ribs, Joint stiffness, Ovoid thoracolumbar vertebrae, Scoliosis, Dense calvaria OMIM:252900
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Bulging epiphyses, Thin bony cortex, Enlargement of the ankles, Recurrent fractures, Bowing of th... OMIM:241530
Arthrogryposis Multiplex Congenita 6
Death in infancy, Respiratory failure, Death in childhood, Neonatal death, Increased variability ... OMIM:619334
Kagami-Ogata Syndrome
Long clavicles, Diastasis recti, Kyphoscoliosis, Coxa valga, Micrognathia, Long fingers, Flexion ... OMIM:608149
Robinow Syndrome
Fused thoracic vertebrae, Syndactyly, Brachydactyly, Kyphoscoliosis, Missing ribs, Bifid distal p... ORPHA:97360
Cerebrocostomandibular Syndrome
Rib gap, 10 pairs of ribs, 11 pairs of ribs, Neonatal respiratory distress, Anomalous rib inserti... OMIM:117650
Diaphragmatic Hernia 4, With Cardiovascular Defects
11 pairs of ribs, Finger syndactyly, Neonatal respiratory distress, Micrognathia, 2-3 toe syndact... OMIM:620025
Laryngotracheal Angioma
Respiratory distress, Intercostal retractions, Apnea, Wheezing, Stridor, Cough ORPHA:137935
Vertebral Hypersegmentation And Orofacial Anomalies
Scapular winging, Micrognathia, Pectus excavatum, Supernumerary ribs, Six lumbar vertebrae, Joint... OMIM:619122
Steinfeld Syndrome
Hypoplasia of the ulna, Aplasia/Hypoplasia of the thumb, Missing ribs, Hypoplasia of the radius, ... OMIM:184705
Infant Acute Respiratory Distress Syndrome
Pneumonia, Abnormal thorax morphology, Tachypnea, Nasal flaring, Hypoxemia, Respiratory failure ORPHA:70587
Recurrent Respiratory Papillomatosis
Respiratory distress, Nonproductive cough, Wheezing, Tachypnea, Dyspnea, Upper airway obstruction... ORPHA:60032
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2
11 pairs of ribs, Bicoronal synostosis, Joint stiffness, Short long bone, Scoliosis, Short palm, ... OMIM:619184
Holzgreve Syndrome
Abnormally ossified vertebrae, Abnormal morphology of ulna, Joint stiffness, Abnormal rib morphol... ORPHA:2167
X-Linked Myotubular Myopathy-Abnormal Genitalia Syndrome
Joint hypermobility, Respiratory insufficiency, Thin ribs ORPHA:456328
Auriculocondylar Syndrome 2A
Respiratory distress, Apnea, Micrognathia, Mandibular condyle hypoplasia, Short mandibular rami, ... OMIM:614669
Acromesomelic Dysplasia 4
Thoracic scoliosis, Short metatarsal, Short phalanx of finger, Genu varum, Short metacarpal, Lumb... OMIM:619636
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
11 pairs of ribs, Hemivertebrae, Abnormal vertebral morphology ORPHA:77298
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Respiratory distress, Axial muscle stiffness ORPHA:240085
Wolf-Hirschhorn Syndrome
Rib segmentation abnormalities, Vertebral fusion, Decreased muscle mass, Sacral dimple, Pseudoepi... OMIM:194190
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities
Respiratory distress, Overlapping toe, Flexion contracture, Pectus carinatum, Scoliosis, Overlapp... OMIM:619383
Mucopolysaccharidosis, Type Iiib
Thickened ribs, Ovoid thoracolumbar vertebrae, Dense calvaria, Joint stiffness OMIM:252920
Opsismodysplasia
Short neck, Hypoplastic vertebral bodies, Narrow chest, Short palm, Short phalanx of finger, Shor... OMIM:258480
Tetrasomy 5P
Respiratory distress, Overlapping toe, Short hallux, Short neck, Pectus excavatum, Long fingers, ... ORPHA:3309
Multiple Pterygium-Malignant Hyperthermia Syndrome
Skeletal muscle atrophy, Congenital muscular torticollis, Finger syndactyly, Arachnodactyly, Camp... ORPHA:2215
Schwartz-Jampel Syndrome
Skeletal muscle atrophy, Apnea, Micromelia, Short neck, Micrognathia, Coxa vara, Pectus carinatum... ORPHA:800
X-Linked Hypophosphatemia
Beaded ribs, Bowing of the legs, Generalized osteosclerosis, Trapezoidal distal femoral condyles,... ORPHA:89936
Camptodactyly Syndrome, Guadalajara Type 3
Osteopenia, Short neck, Thickened cortex of long bones, Abnormal rib morphology, Small hand, Shor... ORPHA:488434
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Ivory epiphyses, Short metacarpal, Bowing of the long bones, Rhizomelia, Ovoid vertebral bodies, ... ORPHA:85167
Severe Acute Respiratory Syndrome
Respiratory distress, Respiratory failure requiring assisted ventilation, Dyspnea, Hypoxemia, Acu... ORPHA:140896
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development
Hypoplasia of the ulna, Short femur, Absent thumb, Fibular hypoplasia, Aplasia/Hypoplasia of the ... OMIM:612447
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion
Joint laxity, Long toe, Overlapping toe, Diastasis recti, Pectus excavatum, Flexion contracture, ... ORPHA:254528
Baller-Gerold Syndrome
Limited elbow movement, Micrognathia, Patellar hypoplasia, Spina bifida occulta, Abnormal vertebr... OMIM:218600
Tbck-Related Intellectual Disability Syndrome
11 pairs of ribs, Skeletal muscle atrophy, Broad toe, Prominent metopic ridge, Diastasis recti, S... ORPHA:488632
Spondyloepimetaphyseal Dysplasia, X-Linked
Anterior wedging of T12, Pectus carinatum, Long fibula, Short palm, Short phalanx of finger, Broa... OMIM:300106
Yunis-Varon Syndrome
Aplasia of the distal phalanges of the hand, Aplasia/Hypoplasia of the scapulae, Micrognathia, Ab... ORPHA:3472
Osteogenesis Imperfecta, Type Vii
Osteopenia, Multiple rib fractures, Death in infancy, Crumpled long bones, Rhizomelia, Recurrent ... OMIM:610682
Osteoglophonic Dysplasia
Respiratory distress, Osteopenia, Short neck, Short metatarsal, Short palm, Short phalanx of fing... OMIM:166250
Humerofemoral Hypoplasia With Radiotibial Ray Deficiency
Hypoplastic scapulae, Bowed humerus, Congenital diaphragmatic hernia, Absent thumb, Elbow flexion... OMIM:618022
Thrombocytopenia-Absent Radius Syndrome
Finger syndactyly, Tibial torsion, Aplasia/hypoplasia of the humerus, Absent radius, Coxa valga, ... ORPHA:3320
Zttk Syndrome
Craniosynostosis, Kyphosis, Flexion contracture, Rib fusion, Hemivertebrae, Small hand, Short foo... OMIM:617140
Simpson-Golabi-Behmel Syndrome, Type 1
Congenital diaphragmatic hernia, Pectus carinatum, Vertebral segmentation defect, Narrow greater ... OMIM:312870
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Flexion contracture, Thin ribs OMIM:614833
Mucopolysaccharidosis, Type Vii
Spatulate ribs, Short neck, Flexion contracture, Pectus carinatum, Narrow greater sciatic notch, ... OMIM:253220
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe
Bifid sternum, Supraumbilical raphe OMIM:140850
Mucopolysaccharidosis, Type Iiic
Thickened ribs, Kyphoscoliosis, Joint stiffness, Ovoid thoracolumbar vertebrae, Beaking of verteb... OMIM:252930
Cryptogenic Organizing Pneumonia
Respiratory distress, Bronchial breath sound, Crackles, Nonproductive cough, Dyspnea, Wheezing, P... ORPHA:1302
Mosaic Trisomy 8
Camptodactyly of finger, Short neck, Micrognathia, Limitation of joint mobility, Abnormal rib mor... ORPHA:96061
Mucopolysaccharidosis-Plus Syndrome
Respiratory distress, Short neck, Pectus excavatum, Metaphyseal widening, Flexion contracture, Re... OMIM:617303
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Bulging epiphyses, Thin bony cortex, Enlargement of the ankles, Recurrent fractures, Bowing of th... OMIM:264700
Anaplastic Thyroid Carcinoma
Respiratory distress, Dyspnea, Upper airway obstruction, Abnormal skeletal muscle morphology, Str... ORPHA:142
Avian Influenza
Respiratory distress, Miscarriage, Pneumonia, Productive cough, Nonproductive cough, Dyspnea, Rha... ORPHA:454836
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy
Respiratory distress, Tapered finger, Flexion contracture, Hyperextensibility at wrists, Hip dysp... ORPHA:544503
Multiple Synostoses Syndrome 1
Hypoplastic spinal processes, Symphalangism affecting the phalanges of the hand, Cutaneous finger... OMIM:186500
Mucopolysaccharidosis, Type Vi
Metaphyseal widening, Flexion contracture, Pectus carinatum, Hypoplastic iliac wing, Broad ribs, ... OMIM:253200
Cantú Syndrome
Finger syndactyly, Broad hallux phalanx, Ovoid vertebral bodies, Short hallux, Short neck, Coxa v... ORPHA:1517
Focal Dermal Hypoplasia
Congenital hip dislocation, Congenital diaphragmatic hernia, Osteopathia striata, Short metatarsa... OMIM:305600
Stuve-Wiedemann Syndrome 1
Enlarged joints, Apnea, Short neck, Micrognathia, Knee flexion contracture, Femoral bowing, Tibia... OMIM:601559
Cervical Ribs, Sprengel Anomaly, Anal Atresia, And Urethral Obstruction
Preaxial hand polydactyly, Sprengel anomaly, Cervical ribs, Thoracolumbar scoliosis OMIM:601389
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
Osteopenia, Small hypothenar eminence, Arachnodactyly, Hypoplasia of the musculature, Thenar musc... ORPHA:2463
Surfactant Metabolism Dysfunction, Pulmonary, 3
Respiratory distress, Death in infancy, Neonatal respiratory distress, Nonspecific interstitial p... OMIM:610921
Hereditary Pulmonary Alveolar Proteinosis
Respiratory distress, Respiratory failure requiring assisted ventilation, Crackles, Tachypnea, Ac... ORPHA:264675
Succinic Acidemia
Respiratory distress OMIM:600335
Hurler Syndrome
Abnormal clavicle morphology, Death in infancy, Camptodactyly of finger, Short neck, Limitation o... ORPHA:93473
Nestor-Guillermo Progeria Syndrome
Microretrognathia, Wide cranial sutures, Limited elbow movement, Joint stiffness, Micrognathia, D... OMIM:614008
Farber Disease
Respiratory distress, Skeletal muscle atrophy, Abnormality of the knee, Short toe, Flexion contra... ORPHA:333
Dyssegmental Dysplasia, Silverman-Handmaker Type
Bowing of the long bones, Micromelia, Anisospondyly, Micrognathia, Respiratory insufficiency, Sho... OMIM:224410
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence
Respiratory distress, Syndactyly, Neonatal respiratory distress, Proximal placement of thumb, Sho... OMIM:217980
Gm1-Gangliosidosis, Type I
Death in infancy, Thickened ribs, Short neck, Joint stiffness, Kyphosis, Hypoplastic vertebral bo... OMIM:230500
Craniorachischisis
Congenital diaphragmatic hernia, Cervical spina bifida, Myelomeningocele, Anencephaly, Sirenomeli... ORPHA:63260
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Respiratory distress, Bronchiectasis, Abnormal mucociliary clearance OMIM:619466
Xylt1-Cdg
Joint laxity, Joint dislocation, Coxa valga, Flared metaphysis, Short long bone, Short femoral ne... ORPHA:370930
Eiken Syndrome
Broad femoral neck, Delayed epiphyseal ossification, Long thumb, Flat acetabular roof, Fibular hy... OMIM:600002
Episodic Ataxia Type 1
Respiratory distress, Calf muscle hypertrophy, Kyphoscoliosis, Scoliosis ORPHA:37612
Trisomy 1Q
Microretrognathia, Toe syndactyly, Arachnodactyly, Camptodactyly of finger, Congenital diaphragma... ORPHA:261344
Respiratory Distress Syndrome In Premature Infants
Respiratory distress, Dyspnea, Neonatal respiratory distress, Tachypnea OMIM:267450
Sclerosteosis 1
Syndactyly, Facial palsy, Sclerotic scapulae, Broad clavicles, 2-3 finger syndactyly, Facial pals... OMIM:269500
Fibrous Dysplasia Of Bone
Abnormal clavicle morphology, Abnormal tibia morphology, Abnormal femur morphology, Coxa vara, Pa... ORPHA:249
Gracile Bone Dysplasia
Death in infancy, Flared metaphysis, Thin ribs, Slender long bone, Decreased skull ossification, ... OMIM:602361
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Micrognathia, Tachypnea, Bell-shaped thorax, Pulmonary arterial hypertension, Horizontal ribs OMIM:614857
Ear-Patella-Short Stature Syndrome
Respiratory distress, Camptodactyly of finger, Aplastic clavicle, Craniosynostosis, Micrognathia,... ORPHA:2554
Coenzyme Q10 Deficiency, Primary, 8
Left ventricular hypertrophy, Flexion contracture, Respiratory distress OMIM:616733
Otopalatodigital Syndrome Type 2
Increased bone mineral density, Bowing of the long bones, Camptodactyly of finger, Short hallux, ... ORPHA:90652
Pulmonary Non-Tuberculous Mycobacterial Infection
Respiratory distress, Crackles, Dyspnea, Chronic pulmonary obstruction, Pneumothorax, Bronchiecta... ORPHA:411703
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Short palm, Micromelia, Micrognathia, Preaxial hand polydactyly, Abnormal pelvis bone ossificatio... ORPHA:93271
Cartilage-Hair Hypoplasia
Joint laxity, Metaphyseal dysplasia, Lumbar hyperlordosis, Flaring of lower rib cage, Hypoplasia ... OMIM:250250
Laryngomalacia
Respiratory distress, Congenital laryngeal stridor OMIM:150280
Craniofaciofrontodigital Syndrome
Respiratory distress, Osteopenia, Joint laxity, Dyspnea, Osteoporosis, Pectus carinatum, Macroglo... ORPHA:363705
Mitochondrial Complex Iv Deficiency, Nuclear Type 2
Respiratory distress, Death in infancy, Myopathy, Increased variability in muscle fiber diameter,... OMIM:604377
Vacterl/Vater Association
Finger syndactyly, Abnormal intervertebral disk morphology, Congenital diaphragmatic hernia, Prea... ORPHA:887
Hypocalcemic Vitamin D-Dependent Rickets
Thin bony cortex, Enlargement of the ankles, Wide cranial sutures, Osteomalacia, Irregular, rachi... ORPHA:289157
Chronic Pneumonitis Of Infancy
Respiratory distress, Intercostal retractions, Reduced forced vital capacity, Tachypnea, Hypoxemi... ORPHA:91359
Kagami-Ogata Syndrome
Respiratory failure requiring assisted ventilation, Diastasis recti, Kyphoscoliosis, Short neck, ... ORPHA:254519
Autosomal Dominant Popliteal Pterygium Syndrome
Finger syndactyly, Toe syndactyly, Joint stiffness, Micrognathia, Split hand, Abnormal rib morpho... ORPHA:1300
Surfactant Metabolism Dysfunction, Pulmonary, 2
Respiratory distress, Nonspecific interstitial pneumonia, Spontaneous pneumothorax, Reduced force... OMIM:610913
Wiedemann-Steiner Syndrome
Aplasia/Hypoplasia of the ribs, Sacral dimple, Hyperextensibility at elbow, Rhizomelia, Tapered f... ORPHA:319182
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Neonatal respiratory distress, Diastasis recti, Micrognathia, Posterior rib fusion, Neonatal deat... OMIM:265380
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Respiratory distress, Delayed epiphyseal ossification, Macroglossia, Abnormal epiphysis morpholog... ORPHA:226313
Interstitial Pneumonitis, Desquamative, Familial
Respiratory distress, Respiratory failure, Tachypnea, Cough OMIM:263000
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Micromelia, Short neck, Micrognathia, Delayed epiphyseal ossification, Flexion contracture, Preax... OMIM:210710
Stüve-Wiedemann Syndrome
Respiratory distress, Osteopenia, Apnea, Micromelia, Metaphyseal widening, Flexion contracture, K... ORPHA:3206
Trisomy 13
Kyphosis, Postaxial hand polydactyly, Abnormal rib morphology, Abnormal pelvic girdle bone morpho... ORPHA:3378
Shprintzen-Goldberg Craniosynostosis Syndrome
Osteopenia, Joint laxity, Arachnodactyly, Genu recurvatum, Craniosynostosis, Micrognathia, Latera... OMIM:182212
Alagille Syndrome
Hypoplasia of the ulna, Micrognathia, Abnormal rib morphology, Abnormal form of the vertebral bod... ORPHA:52
Staphylococcal Necrotizing Pneumonia
Respiratory distress, Pneumonia, Nonproductive cough, Dyspnea, Tachypnea, Pneumothorax, Acute inf... ORPHA:36238
Malaria
Respiratory distress ORPHA:673
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Hypoplastic pubic ramus, Proximal placement of thumb, Short neck, Micrognathia, Short metatarsal,... OMIM:609945
Leopard Syndrome 1
Scapular winging, Kyphoscoliosis, Missing ribs, Pectus excavatum, Short neck, Limited elbow movem... OMIM:151100
Diamond-Blackfan Anemia 1
11 pairs of ribs, Short neck, Absent thumb, Short thumb, Hypoplastic ilia, Partial duplication of... OMIM:105650
Lissencephaly Syndrome, Norman-Roberts Type
Respiratory distress, Microretrognathia, Rocker bottom foot, Adducted thumb ORPHA:89844
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Missing ribs, Abnormality of the humerus... ORPHA:3186
Pallister-Hall Syndrome
Hemivertebrae, Microretrognathia, Mesoaxial polydactyly, Radial bowing, Rib fusion, Respiratory i... ORPHA:672
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Short neck, Aplasia/hypoplasia of the extremities, Hemivertebrae, Pectus carinatum, Femoral bowin... OMIM:276820
Osteogenesis Imperfecta
Osteopenia, Cervical kyphosis, Micromelia, Micrognathia, Abnormal tibia morphology, Flexion contr... ORPHA:666
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy
Respiratory distress, Osteopenia, Micrognathia, Contractures of the large joints, Scoliosis ORPHA:329178
Orofaciodigital Syndrome Vi
11 pairs of ribs, Brachydactyly, Toe syndactyly, Short femur, Mesoaxial hand polydactyly, Postaxi... OMIM:277170
Gaucher Disease, Perinatal Lethal
Respiratory distress, Apnea, Micrognathia, Neonatal death, Arthrogryposis multiplex congenita, Th... OMIM:608013
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Lumbar hyperlordosis, Arachnodactyly, Kyphoscoliosis, Absent thumb, Sagittal craniosynostosis, Ri... ORPHA:500150
Congenital Lobar Emphysema
Respiratory distress, Emphysema ORPHA:1928
Gm1 Gangliosidosis Type 1
Spatulate ribs, Pectus carinatum, Hypoplastic vertebral bodies, Macroglossia, Platyspondyly, Flar... ORPHA:79255
Mitochondrial Pyruvate Carrier Deficiency
Respiratory distress OMIM:614741
Jacobsen Syndrome
Short neck, Pectus excavatum, Missing ribs, Micrognathia, Flexion contracture, Clinodactyly of th... OMIM:147791
Familial Nasal Acilia
Respiratory distress, Dyspnea, Bronchiectasis, Chronic rhinitis, Chronic sinusitis ORPHA:922
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Barrel-shaped chest, Respiratory distress, Lumbar hyperlordosis, Short neck, Joint stiffness, Fle... ORPHA:505248
Congenital Pulmonary Lymphangiectasia
Respiratory distress, Chronic pulmonary obstruction, Cough, Pulmonary arterial hypertension, Pleu... ORPHA:2414
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis
Respiratory distress, Congenital diaphragmatic hernia, Micrognathia OMIM:606164
Myhre Syndrome
Craniofacial hyperostosis, Brachydactyly, Joint stiffness, Abnormal rib morphology, Skeletal musc... ORPHA:2588
Triosephosphate Isomerase Deficiency
Respiratory distress, Skeletal muscle atrophy, Death in infancy, Respiratory insufficiency due to... OMIM:615512
Pseudo-Torch Syndrome 2
Pleural effusion, Acute respiratory distress syndrome, Respiratory insufficiency, Thin ribs OMIM:617397
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Respiratory distress, Death in infancy, Tachypnea, Respiratory insufficiency, Respiratory failure OMIM:614299
Mogs-Cdg
Respiratory distress, Hypoventilation, Thoracic scoliosis, Apnea, Left ventricular hypertrophy, O... ORPHA:79330
Pseudotrisomy 13 Syndrome
11 pairs of ribs, Postaxial hand polydactyly, Hemivertebrae, 2-3 toe syndactyly, Postaxial foot p... OMIM:264480
Occipital Horn Syndrome
Joint laxity, Short humerus, Persistent open anterior fontanelle, Pelvic bone exostoses, Broad cl... OMIM:304150
6Q Terminal Deletion Syndrome
Joint laxity, Aplasia/Hypoplasia of the ribs, Hallux valgus, Prominent metopic ridge, Short neck,... ORPHA:75857
Premature Aging Syndrome, Penttinen Type
Brachydactyly, Recurrent fractures, Micrognathia, Hyperextensibility of the knee, Osteoporosis, T... OMIM:601812
Muscular Dystrophy, Congenital, With Or Without Seizures
Respiratory distress, Hypoglycosylation of alpha-dystroglycan, Respiratory failure OMIM:620166
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Respiratory distress, Skeletal muscle atrophy, Flexion contracture, Abnormal muscle glycogen cont... ORPHA:367
Meconium Aspiration Syndrome
Respiratory distress, Neonatal asphyxia, Wheezing, Pneumothorax, Hypoxemia, Aspiration pneumonia,... ORPHA:70588
Developmental And Epileptic Encephalopathy 68
Respiratory distress, Flexion contracture OMIM:618201
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
11 pairs of ribs, Acute respiratory distress syndrome, Delayed cranial suture closure, Craniosyno... OMIM:620005
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Respiratory distress, Neonatal respiratory distress, Crackles, Asthma, Tachypnea, Wheezing, Hypox... OMIM:610978
Choanal Atresia
Respiratory distress, Craniosynostosis, Upper airway obstruction, Polydactyly, Tracheomalacia, Ch... ORPHA:137914
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Respiratory distress, Hypoventilation, Prominent metopic ridge, Apnea, Micrognathia, Recurrent pn... ORPHA:314655
Carnitine Deficiency, Systemic Primary
Respiratory distress, Myopathy, Reduced muscle carnitine level OMIM:212140
Monosomy 9Q22.3
Rhabdomyosarcoma, Short neck, Pectus excavatum, Kyphosis, Abnormal rib morphology, Joint hyperfle... ORPHA:77301
Acute Lung Injury
Respiratory distress, Pneumonia, Dyspnea, Tachypnea, Hypoxemia, Respiratory failure ORPHA:178320
Osteopathia Striata With Cranial Sclerosis
Apnea, Micrognathia, Craniofacial osteosclerosis, Osteopathia striata, Clinodactyly of the 5th fi... OMIM:300373
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria
Respiratory distress, Multiple joint contractures, Short neck, Metaphyseal widening, Irregular ve... ORPHA:99646
Folinic Acid-Responsive Seizures
Respiratory distress, Apnea ORPHA:79097
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Respiratory distress OMIM:612075
Paternal 20Q13.2Q13.3 Microdeletion Syndrome
Respiratory distress, Micrognathia ORPHA:261304
Orofaciodigital Syndrome Xiv
Microretrognathia, Broad hallux, Micrognathia, Postaxial hand polydactyly, Preaxial polydactyly, ... OMIM:615948
Jacobsen Syndrome
Death in infancy, Broad hallux phalanx, Finger syndactyly, Toe syndactyly, Short neck, Missing ri... ORPHA:2308
Osteopetrosis, Autosomal Recessive 7
Abnormal trabecular bone morphology, Multiple rib fractures, Death in infancy, Femur fracture, Re... OMIM:612301
Cerebrocostomandibular Syndrome
Death in infancy, Neonatal respiratory distress, Micrognathia, Kyphosis, Posterior rib gap, Bell-... ORPHA:1393
Neuromuscular Oculoauditory Syndrome
Respiratory distress, Knee flexion contracture, Calf muscle hypertrophy, Muscle fiber necrosis, A... OMIM:618733
Hypoglossia With Situs Inversus
Respiratory distress, Upper airway obstruction, Micrognathia OMIM:612776
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Flexion contracture, Femoral bowing, Narrow chest, Abnormality of the wrist, Abnormal vertebral m... ORPHA:95699
Oculopharyngodistal Myopathy 1
Respiratory distress, Autophagic vacuoles, Facial palsy, Hypercapnia, Reduced forced vital capaci... OMIM:164310
Mucopolysaccharidosis, Type Iiid
Epiphyseal dysplasia, Thoracic scoliosis, Thickened ribs, Pilonidal sinus, Short neck, Joint stif... OMIM:252940
Idiopathic Neonatal Atrial Flutter
Respiratory distress, Tachypnea ORPHA:45452
Congenital Laryngeal Web
Respiratory distress, Stridor ORPHA:2374
Primary Dystonia, Dyt4 Type
Respiratory distress, Torticollis, Kyphoscoliosis ORPHA:98805
Pfeiffer Syndrome Type 2
Respiratory distress, Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Short hallux, Hall... ORPHA:93259
Alpha-Mannosidosis, Infantile Form
Osteopenia, Joint laxity, Thickened ribs, Facial hypotonia, Pneumonia, Craniosynostosis, Short ne... ORPHA:309282
Progressive Supranuclear Palsy-Corticobasal Syndrome
Respiratory distress ORPHA:240103
Weill-Marchesani Syndrome 1
Thin bony cortex, Lumbar hyperlordosis, Joint stiffness, Spinal canal stenosis, Scoliosis, Broad ... OMIM:277600
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Respiratory distress, Respiratory insufficiency due to muscle weakness, Respiratory failure, Incr... OMIM:220110
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive
Respiratory distress, Lymphocytic interstitial pneumonia OMIM:245590
Thyroid Lymphoma
Respiratory distress, Dyspnea, Stridor, Upper airway obstruction ORPHA:97285
Congenital Disorder Of Glycosylation, Type Ix
Respiratory distress, Death in childhood OMIM:615597
N-Acetylglutamate Synthase Deficiency
Respiratory distress OMIM:237310
Combined Oxidative Phosphorylation Deficiency 19
Respiratory distress, Increased variability in muscle fiber diameter, Stridor OMIM:615595
Fetal Akinesia Deformation Sequence 1
Hip contracture, Decreased muscle mass, Elbow contracture, Camptodactyly of finger, Short neck, R... OMIM:208150
Mgat2-Cdg
Osteopenia, Respiratory distress, Pectus excavatum, Kyphosis, Scoliosis, Brachydactyly ORPHA:79329
Boomerang Dysplasia
Neonatal death, Absent radius, Hypoplastic iliac body, Fibular aplasia OMIM:112310
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Respiratory distress, Long clavicles, Arachnodactyly, Overlapping toe, Micrognathia, Contracture ... ORPHA:83617
Schinzel-Giedion Syndrome
Respiratory distress, Abnormal clavicle morphology, Short neck, Micrognathia, Tibial bowing, Broa... ORPHA:798
Nipah Virus Disease
Respiratory distress, Cough ORPHA:99825
Myhre Syndrome
Short neck, Hypoplastic iliac wing, Broad ribs, Vertebral fusion, Short toe, Generalized muscle h... OMIM:139210
Lenz-Majewski Hyperostotic Dwarfism
Joint laxity, Hyperextensibility of the finger joints, Syndactyly, Broad clavicles, Aplasia/Hypop... OMIM:151050
Autosomal Recessive Malignant Osteopetrosis
Bowing of the long bones, Apnea, Recurrent fractures, Craniosynostosis, Abnormal rib morphology, ... ORPHA:667
Glycogen Storage Disease Due To Acid Maltase Deficiency
Respiratory distress, Orthopnea, Facial hypotonia, Glycogen accumulation in muscle fiber lysosome... ORPHA:365
Oculocerebrofacial Syndrome, Kaufman Type
Respiratory distress, Arachnodactyly, Micrognathia, Dyspnea, Respiratory failure ORPHA:2707
Ciliary Dyskinesia, Primary, 2
Respiratory distress, Sinusitis, Bronchiectasis, Immotile cilia, Ciliary dyskinesia OMIM:606763
Simpson-Golabi-Behmel Syndrome
Vertebral fusion, Death in infancy, Congenital hip dislocation, Finger syndactyly, Camptodactyly ... ORPHA:373
Mitochondrial Complex I Deficiency, Nuclear Type 37
Respiratory distress, Skeletal muscle atrophy, Pulmonary arterial hypertension OMIM:619272
Coccidioidomycosis
Respiratory distress, Osteomyelitis, Pneumonia, Osteolysis, Abnormal long bone morphology, Arthri... ORPHA:228123
Tularemia
Respiratory distress, Pleural effusion, Pneumonia, Cough ORPHA:3392
Pagod Syndrome
Abnormal clavicle morphology, Abnormal rib morphology, Congenital diaphragmatic hernia, Death in ... ORPHA:991
Surfactant Metabolism Dysfunction, Pulmonary, 1
Death in infancy, Neonatal respiratory distress, Apnea, Dyspnea, Tachypnea, Clubbing, Respiratory... OMIM:265120
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1
Osteopenia, Joint laxity, Joint dislocation, Congenital hip dislocation, Arachnodactyly, Protrusi... OMIM:225400
Monosomy 9P
Congenital diaphragmatic hernia, Short neck, Proximal placement of thumb, Abnormality of the tars... ORPHA:261112
Ulnar Agenesis And Endocardial Fibroelastosis
Neonatal death, Hand oligodactyly, Aplasia of the ulna OMIM:276822
Pfeiffer Syndrome Type 3
Respiratory distress, Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Short hallux, Hall... ORPHA:93260
Agnathia-Otocephaly Complex
Respiratory distress, Mandibular aplasia, Tracheomalacia, Micrognathia OMIM:202650
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted
Respiratory distress, Joint laxity, Sacral dimple, Postaxial polydactyly, Tapered finger, Small h... OMIM:300968
Tetrasomy 9P
Joint dislocation, Aplasia/Hypoplasia of the clavicles, Myositis, Hypoplastic scapulae, Sacral di... ORPHA:3310
Arterial Tortuosity Syndrome
Respiratory distress, Arachnodactyly, Rocker bottom foot, Craniosynostosis, Coxa valga, Avascular... ORPHA:3342
Weill-Marchesani Syndrome 2
Short metacarpal, Lumbar hyperlordosis, Thin bony cortex, Joint stiffness, Elbow flexion contract... OMIM:608328
Neurodegeneration And Seizures Due To Copper Transport Defect
Respiratory distress, Short femur, Pneumothorax, Short tibia, Limb hypertonia OMIM:620306
Myotonic Dystrophy 1
Respiratory distress, Facial diplegia OMIM:160900
Arboleda-Tham Syndrome
Respiratory distress, Microretrognathia, Neonatal respiratory distress, Brachydactyly, Sandal gap... OMIM:616268
Floating-Harbor Syndrome
11 pairs of ribs, Joint laxity, Brachydactyly, Ivory epiphyses of the distal phalanges of the han... OMIM:136140
Craniotubular Dysplasia, Ikegawa Type
Metaphyseal dysplasia, Broad femoral neck, Increased intervertebral space, Broad ischia, Diaphyse... OMIM:619727
Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema
Respiratory distress, Upper airway obstruction ORPHA:100057
Slc35A1-Cdg
Respiratory distress, Pneumonia, Hypoxemia ORPHA:238459
Acquired Methemoglobinemia
Respiratory distress, Dyspnea, Hypoxemia ORPHA:464453
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Respiratory distress ORPHA:289916
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Respiratory distress, Skeletal muscle atrophy, Short humerus, Short femur, Apnea, Ragged-red musc... ORPHA:17
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Respiratory distress, Respiratory failure requiring assisted ventilation, Facial hypotonia, Respi... ORPHA:308552
Mucopolysaccharidosis Type 3
Abnormal clavicle morphology, Craniofacial hyperostosis, Joint stiffness, Avascular necrosis of t... ORPHA:581
Hallermann-Streiff Syndrome
Wormian bones, Hyperlordosis, Pectus excavatum, Micrognathia, Metaphyseal widening, Recurrent pne... OMIM:234100
Dextrocardia
Congenital hip dislocation, Abnormal rib morphology ORPHA:1666
Mandibuloacral Dysplasia Progeroid Syndrome
Osteopenia, Sandal gap, Delayed cranial suture closure, Decreased fibular diameter, Pectus excava... OMIM:619127
Shwachman-Diamond Syndrome 2
Death in infancy, Anterior rib cupping, Metaphyseal widening, Death in childhood, Metaphyseal irr... OMIM:617941
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Respiratory distress ORPHA:79312
Fryns Syndrome
Microretrognathia, Rocker bottom foot, Proximal placement of thumb, Short neck, Short thumb, Thin... OMIM:229850
3-Methylglutaconic Aciduria, Type Viib
Respiratory distress, Rhizomelia, Micrognathia, Flexion contracture, Recurrent pneumonia OMIM:616271
Trisomy 18
Microretrognathia, Camptodactyly of finger, Congenital diaphragmatic hernia, Postaxial hand polyd... ORPHA:3380
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Respiratory distress, Exercise-induced rhabdomyolysis, Pneumonia, Episodic tachypnea, Tachypnea ORPHA:26793
Mandibulofacial Dysostosis, Guion-Almeida Type
Respiratory distress, Proximal placement of thumb, Micrognathia, Preaxial hand polydactyly, Slend... OMIM:610536
Japanese Encephalitis
Respiratory distress, Skeletal muscle atrophy, Stiff neck, Genu recurvatum, Facial palsy, Elbow f... ORPHA:79139
8Q24.3 Microdeletion Syndrome
Respiratory distress, Thoracic scoliosis, Congenital hip dislocation, Micromelia, Short neck, Fin... ORPHA:508488
Fructose-1,6-Bisphosphatase Deficiency
Respiratory distress, Intermittent hyperventilation, Episodic tachypnea, Dyspnea, Apneic episodes... ORPHA:348
Tetanus
Respiratory distress, Tachypnea, Stiff neck ORPHA:3299
Stt3B-Cdg
Respiratory distress ORPHA:370924
Nasolacrimal Duct Cyst
Intercostal retractions, Episodic respiratory distress, Stridor, Paroxysmal dyspnea, Abnormal bre... ORPHA:141083
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
Oromandibular Dystonia
Respiratory distress, Torticollis ORPHA:93958
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Respiratory distress ORPHA:927
Bacterial Toxic-Shock Syndrome
Respiratory distress, Myositis, Sinusitis, Osteomyelitis, Pneumonia, Tachypnea, Arthritis, Septic... ORPHA:36234
Infantile Krabbe Disease
Respiratory distress, Respiratory failure, Shoulder girdle muscle weakness, Ankle clonus ORPHA:206436
Oeis Complex
11 pairs of ribs, Absence of the sacrum, Congenital hip dislocation, Sacral segmentation defect, ... OMIM:258040
Congenital Tracheomalacia
Neonatal respiratory distress, Apnea, Intercostal retractions, Pneumonia, Productive cough, Dyspn... ORPHA:95430
Isolated Atp Synthase Deficiency
Respiratory distress ORPHA:254913
Doors Syndrome
11 pairs of ribs, Respiratory distress, Aplasia/Hypoplasia of the phalanges of the 2nd toe, Sagit... ORPHA:79500
Cryptococcosis
Respiratory distress, Osteomyelitis, Pneumonia, Dyspnea, Osteolysis, Pleural effusion, Cough, Lim... ORPHA:1546
Limb Body Wall Complex
Broad hallux, Diastasis recti, Congenital diaphragmatic hernia, Aplasia/hypoplasia involving bone... ORPHA:2369
Holocarboxylase Synthetase Deficiency
Respiratory distress, Tachypnea ORPHA:79242
Smith-Lemli-Opitz Syndrome
Finger syndactyly, Rhizomelia, Congenital diaphragmatic hernia, Short neck, Proximal placement of... ORPHA:818
Floating-Harbor Syndrome
11 pairs of ribs, Short metacarpal, Brachydactyly, Enlarged joints, Kyphoscoliosis, Short neck, A... ORPHA:2044
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
11 pairs of ribs, Muscular dystrophy OMIM:615287
Mercury Poisoning
Respiratory distress, Dyspnea, Respiratory failure, Interstitial pneumonitis ORPHA:330021
Chromosome 6Q24-Q25 Deletion Syndrome
Respiratory distress, Prominent fingertip pads, Small hand, Sandal gap OMIM:612863
Cardiomyopathy, Familial Hypertrophic, 4
Respiratory distress, Myopathy, Dyspnea OMIM:115197
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Respiratory distress, Cervical ribs, Congenital diaphragmatic hernia ORPHA:2255
Hereditary Acrokeratotic Poikiloderma
Finger syndactyly, Camptodactyly of finger, Abnormal rib morphology, Joint hyperflexibility, Abno... ORPHA:2907
Rubinstein-Taybi Syndrome 1
Respiratory distress, Micrognathia, Flexion contracture, Hypoplastic iliac wing, Clinodactyly of ... OMIM:180849
Prader-Willi Syndrome Due To Translocation
Respiratory distress, Overlapping toe, Short neck, Micrognathia, Small hand, Short foot, Clinodac... ORPHA:177907
Idiopathic Hypereosinophilic Syndrome
Respiratory distress, Skeletal muscle atrophy, Myelofibrosis, Swelling of proximal interphalangea... ORPHA:3260
Listeriosis
Back pain, Respiratory distress, Stiff neck, Miscarriage, Pneumonia, Osteomyelitis, Rhabdomyolysi... ORPHA:533
Esophageal Atresia
Respiratory distress, Clinodactyly, Episodic respiratory distress, Chronic pulmonary obstruction,... ORPHA:1199
Vater/Vacterl Association
Syndactyly, Absent radius, Short thumb, Hypoplasia of the radius, Preaxial polydactyly, Abnormal ... OMIM:192350
Multiple Acyl-Coa Dehydrogenase Deficiency
Respiratory distress, Neonatal death OMIM:231680
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies
Tapered finger, Hyperlordosis, Hip dislocation, Genu valgum, Hip dysplasia, Broad ribs, Broad lon... OMIM:301066
Biotinidase Deficiency
Respiratory distress, Limb muscle weakness, Apnea, Hyperventilation ORPHA:79241
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Respiratory distress, Facial hypotonia ORPHA:438216
Inhalational Anthrax
Respiratory distress, Dyspnea ORPHA:247257
Agnathia-Holoprosencephaly-Situs Inversus Syndrome
Respiratory distress, Mandibular aplasia ORPHA:990
Scimitar Syndrome
Respiratory distress, Abnormal hemidiaphragm morphology, Pneumothorax, Hypoplasia of the diaphrag... ORPHA:185
Congenital Disorder Of Deglycosylation 1
Respiratory distress, Facial hypotonia, Osteoporosis, Small hand, Intrinsic hand muscle atrophy, ... OMIM:615273
Mucopolysaccharidosis Type 2, Severe Form
Thickened ribs, Camptodactyly of finger, Diaphyseal thickening, Flexion contracture, Limitation o... ORPHA:217085
Auriculocondylar Syndrome
Respiratory distress, Mandibular condyle aplasia, Mandibular condyle hypoplasia, Micrognathia ORPHA:137888
Kindler Epidermolysis Bullosa
Finger syndactyly, Camptodactyly of finger, Flexion contracture, Abnormal rib morphology, Short 4... ORPHA:2908
Mucopolysaccharidosis Type 2, Attenuated Form
Thickened ribs, Camptodactyly of finger, Diaphyseal thickening, Flexion contracture, Limitation o... ORPHA:217093
Oculocerebrorenal Syndrome Of Lowe
Death in infancy, Osteomalacia, Recurrent fractures, Joint stiffness, Micrognathia, Kyphosis, Abn... ORPHA:534
Complete Atrioventricular Septal Defect
Intercostal retractions, Crackles, Wheezing, Tachypnea, Recurrent pneumonia, Elevated pulmonary a... ORPHA:1329
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome
Respiratory distress, Craniosynostosis ORPHA:1555
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Respiratory distress OMIM:251000
Generalized Arterial Calcification Of Infancy
Respiratory distress, Abnormality of the knee, Osteomalacia, Myocardial calcification, Stippled c... ORPHA:51608
Cocaine Intoxication
Respiratory distress, Wheezing, Rhabdomyolysis, Tachypnea, Pneumothorax, Cough, Hyperventilation ORPHA:90068
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Respiratory distress, Death in infancy, Neonatal respiratory distress, Apnea, Hypopnea, Death in ... OMIM:618426
Restrictive Dermopathy
Osteopenia, Thoracic kyphoscoliosis, Aplasia/Hypoplasia of the clavicles, Multiple joint contract... ORPHA:1662
Adnp Syndrome
Respiratory distress, Joint laxity, Broad hallux, Sandal gap, Abnormal toe morphology, Abnormal f... ORPHA:404448
Beare-Stevenson Cutis Gyrata Syndrome
Respiratory distress, Overlapping toe, Limited elbow extension, Craniosynostosis OMIM:123790
Brain-Lung-Thyroid Syndrome
Respiratory distress, Neonatal respiratory distress, Asthma, Recurrent pneumonia, Respiratory fai... ORPHA:209905
Congenital Enterovirus Infection
Respiratory distress, Pleural effusion ORPHA:292
Glycogen Storage Disease Of Heart, Lethal Congenital
Respiratory distress, Apnea, Macroglossia, Myopathy, Pleural effusion OMIM:261740
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Respiratory distress, Myositis, Osteomyelitis, Pneumonia, Interstitial pneumonitis ORPHA:37042
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Respiratory distress, Skeletal muscle atrophy, Osteomyelitis leading to amputation due to slow he... OMIM:256810
Pallister-Killian Syndrome
Congenital hip dislocation, Congenital diaphragmatic hernia, Short neck, Micrognathia, Flexion co... OMIM:601803
Alternating Hemiplegia Of Childhood
Respiratory distress, Aspiration, Facial hypotonia, Apnea ORPHA:2131
Lujo Hemorrhagic Fever
Respiratory distress, Stiff neck, Crackles, Nonproductive cough, Rhinitis ORPHA:319213
Charge Syndrome
Facial palsy, Abnormal tibia morphology, Abnormal rib morphology, Hemivertebrae, Respiratory insu... ORPHA:138
Congenital Alveolar Capillary Dysplasia
Respiratory distress, Pulmonary arterial hypertension, Abnormal vertebral morphology ORPHA:210122
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability
Respiratory distress, Osteopenia, Sacral dimple, Congenital hip dislocation, Hallux valgus, Thora... ORPHA:480880
Mitochondrial Dna-Associated Leigh Syndrome
Apnea, Dyspnea, Ragged-red muscle fibers, Episodic respiratory distress, Hyperventilation ORPHA:255210
Microphthalmia With Linear Skin Defects Syndrome
Respiratory distress, Sacral dimple, Congenital diaphragmatic hernia, Micrognathia, Dyspnea, Resp... ORPHA:2556
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome
Respiratory distress, Respiratory acidosis, Neonatal respiratory distress, Narrow chest OMIM:614748
Alagille Syndrome 1
Hypoplasia of the ulna, Abnormal rib morphology, Hemivertebrae, Butterfly vertebral arch, Short d... OMIM:118450
Nocardiosis
Respiratory distress, Osteomyelitis, Pneumonia, Productive cough, Nonproductive cough, Dyspnea, P... ORPHA:31204
Q Fever
Respiratory distress, Osteomyelitis, Pneumonia, Cough, Pleural effusion ORPHA:781
Lymphatic Malformation 7
Respiratory distress, Pleural effusion, Chylothorax OMIM:617300
Hereditary Angioedema Type 1
Respiratory distress, Dyspnea, Inspiratory stridor ORPHA:100050
Hemorrhagic Fever-Renal Syndrome
Back pain, Respiratory distress, Pneumonia, Epistaxis, Dyspnea, Respiratory failure, Cough, Pleur... ORPHA:340
Rodrigues Blindness
Nasal flaring OMIM:268320
Pachyonychia Congenita
Respiratory distress ORPHA:2309
Sepsis In Premature Infants
Abnormal respiratory system physiology, Dyspnea, Nasal flaring, Abnormal mucociliary clearance ORPHA:90051
Osteopetrosis With Renal Tubular Acidosis
Recurrent fractures, Micrognathia, Pectus excavatum, Osteopetrosis, Pulmonary arterial hypertensi... ORPHA:2785
Wiedemann-Rautenstrauch Syndrome
Long toe, Short humerus, Short femur, Pneumonia, Delayed closure of the anterior fontanelle, Shor... OMIM:264090
Ethylene Glycol Poisoning
Tachypnea, Episodic respiratory distress, Facial palsy, Abnormal pattern of respiration ORPHA:31826
Methylmalonic Aciduria, Cblb Type
Respiratory distress OMIM:251110
Severe Generalized Junctional Epidermolysis Bullosa
Respiratory distress, Pneumonia, Abnormal fingertip morphology, Dyspnea, Pneumothorax, Osteoporos... ORPHA:79404
Heterotaxy, Visceral, 1, X-Linked
Respiratory distress, Absence of the sacrum, Congenital hip dislocation, Block vertebrae, Short l... OMIM:306955
Townes-Brocks Syndrome
Broad hallux phalanx, Toe syndactyly, Preaxial hand polydactyly, Partial duplication of thumb pha... ORPHA:857
Methylmalonic Aciduria, Cbla Type
Respiratory distress OMIM:251100
Gitelman Syndrome
Respiratory distress, Chondrocalcinosis, Rhabdomyolysis, Gout ORPHA:358
Toxic Epidermal Necrolysis
Respiratory distress, Restrictive ventilatory defect, Cough ORPHA:537
Thrombotic Thrombocytopenic Purpura, Hereditary
Respiratory distress OMIM:274150
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Respiratory distress, Pulmonary arterial hypertension, Pulmonary embolism ORPHA:79282
Colchicine Poisoning
Respiratory distress, Cardiorespiratory arrest ORPHA:31824
Congenital Total Pulmonary Venous Return Anomaly
Respiratory distress, Respiratory failure requiring assisted ventilation, Paroxysmal dyspnea, Apn... ORPHA:99125
Charge Syndrome
Hypoplasia of the ulna, Facial palsy, Down-sloping shoulders, Micrognathia, Absent radius, Short ... OMIM:214800
Ramos-Arroyo Syndrome
Respiratory distress ORPHA:1051
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome
Asthma, Nasal flaring, Brachydactyly, Short palm ORPHA:466943
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Respiratory distress, Death in infancy OMIM:617156
Aortic Arch Interruption
Left ventricular hypertrophy, Tachypnea, Respiratory distress, Exertional dyspnea ORPHA:2299
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
Kasabach-Merritt Syndrome
Respiratory distress, Hypopnea ORPHA:2330
Leptospirosis
Respiratory distress, Pleural effusion, Rhabdomyolysis, Cough ORPHA:509
Eisenmenger Syndrome
Respiratory distress, Increased pulmonary vascular resistance, Wheezing, Clubbing, Hypoxemia, Pul... ORPHA:97214
Isolated Arrhinia
Respiratory distress ORPHA:1134
Tuberous Sclerosis Complex
Respiratory distress, Respiratory failure ORPHA:805
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
Pmm2-Cdg
Respiratory distress, Osteopenia, Joint laxity, Multiple joint contractures, Kyphoscoliosis, Long... ORPHA:79318
Alström Syndrome
Respiratory distress, Thoracic scoliosis, Kyphosis, Short toe, Chronic pulmonary obstruction, Rec... ORPHA:64

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 Myf6

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 Myf6.

No publications found that use IMPC mice or data for Myf6.

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