Not currently registered for phenotyping at IMPC

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

Gene Summary

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

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Myf6 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Autosomal Dominant Centronuclear Myopathy
Miscarriage, Thin ribs, Proximal muscle weakness in lower limbs, Calf muscle hypertrophy, EMG: my... ORPHA:169189

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Costocoracoid Ligament, Congenitally Short
Abnormal scapula morphology, Down-sloping shoulders, Abnormality of the shoulder girdle musculature OMIM:122580
Thoracomelic Dysplasia
Short ribs, Bell-shaped thorax OMIM:273740
Cervical Rib
Cervical ribs OMIM:117900
Thoracic Dysostosis, Isolated
Pectus excavatum, Bell-shaped thorax, Short ribs OMIM:187750
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly
Narrow chest, Acetabular spurs, Short ribs, Trident acetabulum, Brachydactyly, Postaxial hand pol... OMIM:617405
Poland Syndrome
Sprengel anomaly, Rib fusion, Unilateral oligodactyly, Hypoplasia of latissimus dorsi muscle, Uni... OMIM:173800
Spondylocostal Dysostosis 2, Autosomal Recessive
Vertebral segmentation defect, Rib fusion, Vertebral clefting, Hemivertebrae, Short neck, Restric... OMIM:608681
Spondylocostal Dysostosis 3, Autosomal Recessive
Vertebral segmentation defect, Rib fusion, Supernumerary vertebral ossification centers, Kyphosis... OMIM:609813
Metatropic Dysplasia
Enlarged joints, Halberd-shaped pelvis, Cone-shaped epiphysis, Platyspondyly, Hyperplasia of the ... OMIM:156530
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia
Coxa vara, Metaphyseal irregularity, Metaphyseal dysplasia, Flexion contracture, Short ribs, Abno... OMIM:613330
Thanatophoric Dysplasia, Type Ii
Narrow chest, Wide-cupped costochondral junctions, Small abnormally formed scapulae, Metaphyseal ... OMIM:187601
Thoracopelvic Dysostosis
Short ribs OMIM:187770
Neurogenic Thoracic Outlet Syndrome
Abnormal rib morphology ORPHA:100073
Spondylocostal Dysostosis 4, Autosomal Recessive
Vertebral segmentation defect, Rib fusion, Hemivertebrae, Spina bifida occulta, Abnormal rib morp... OMIM:613686
Spondylometaphyseal Dysplasia With Corneal Dystrophy
Narrow chest, Beaking of vertebral bodies, Increased intervertebral space, Short ribs, Metaphysea... OMIM:618961
Infantile-Onset X-Linked Spinal Muscular Atrophy
Respiratory distress, Hip contracture, Kyphoscoliosis, Abnormal muscle fiber morphology, Short ri... ORPHA:1145
Spondylocostal Dysostosis 1, Autosomal Recessive
Vertebral segmentation defect, Rib fusion, Kyphoscoliosis, Back pain, Hemivertebrae, Short neck, ... OMIM:277300
Chondrocalcinosis Due To Apatite Crystal Deposition
Intervertebral disk calcification, Osteoarthritis of the small joints of the hand, Costal cartila... OMIM:118610
Kyphomelic Dysplasia
Narrow chest, Joint stiffness, Undulate ribs, Micrognathia, Anterior rib cupping, Micromelia, Abn... ORPHA:1801
Thoracomelic Dysplasia
Narrow chest, Short ribs, Short neck, Bell-shaped thorax, Abnormality of fibula morphology, Limb ... ORPHA:1803
Ophthalmoplegia, External, With Rib And Vertebral Anomalies
Torticollis, Pectus excavatum, Short ribs, Scoliosis, Pseudoarthrosis, Missing ribs OMIM:618155
Thoracolaryngopelvic Dysplasia
Irregular vertebral endplates, Irregular chondrocostal junctions, Short ribs, Metaphyseal widenin... OMIM:187760
Axial Spondylometaphyseal Dysplasia
Osteopenia, Platyspondyly, Upper limb undergrowth, Flared, irregular rib ends, Thoracic hypoplasi... ORPHA:168549
Spondylocostal Dysostosis 5
Butterfly vertebrae, Hemivertebrae, Short neck, Posterior rib fusion, Scoliosis, Pectus carinatum... OMIM:122600
Hyperparathyroidism, Transient Neonatal
Narrow chest, Respiratory distress, Thin ribs, Short ribs, Femoral bowing, Osteopenia OMIM:618188
Chondrodysplasia, Blomstrand Type
Advanced ossification of carpal bones, Short ribs, Micrognathia, Flared metaphysis, Micromelia, G... OMIM:215045
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Narrow chest, Metaphyseal cupping, Severe limb shortening, Thin ribs, Short ribs, Decreased crani... OMIM:151210
Spondyloepimetaphyseal Dysplasia, Shohat Type
Metaphyseal irregularity, Delayed epiphyseal ossification, Coxa vara, Lumbar hyperlordosis, Narro... OMIM:602557
Diaphanospondylodysostosis
Respiratory distress, Enlarged thorax, Abnormal vertebral segmentation and fusion, Short neck, Ab... ORPHA:66637
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Clinodactyly of the 5th finger, Scoliosis, Pectus carinatum, Radioulnar synostosis, Abnormal rib ... ORPHA:3268
Becker Nevus Syndrome
Rib fusion, Kyphosis, Pectus excavatum, Micromelia, Scoliosis, Pectus carinatum, Shoulder girdle ... ORPHA:64755
Achondrogenesis Type 2
Narrow chest, Abnormal bone ossification, Unossified sacrum, Delayed proximal femoral epiphyseal ... ORPHA:93296
Endosteal Hyperostosis, Worth Type
Craniofacial hyperostosis, Clavicular sclerosis, Abnormal form of the vertebral bodies, Abnormal ... ORPHA:2790
Acrocapitofemoral Dysplasia
Cone-shaped epiphyses of the phalanges of the hand, Pectus excavatum, Hypoplasia of the radius, C... OMIM:607778
Achondrogenesis, Type Ib
Narrow chest, Short ribs, Hypoplastic ilia, Respiratory insufficiency, Micromelia, Absent or mini... OMIM:600972
Stuve-Wiedemann Syndrome 2
Respiratory distress, Short long bone, Death in adolescence, Neonatal death, Scoliosis, Camptodac... OMIM:619751
Fibrochondrogenesis 2
Metaphyseal cupping, Short ribs, Hypoplastic ilia, Metaphyseal widening, Micrognathia, Hypoplasti... OMIM:614524
Autosomal Dominant Spondylocostal Dysostosis
Vertebral segmentation defect, Short neck, Posterior rib fusion, Scoliosis, Spina bifida occulta,... ORPHA:1797
Schneckenbecken Dysplasia
Narrow chest, Metaphyseal irregularity, Advanced ossification of carpal bones, Short long bone, S... OMIM:269250
Thoracic Dysplasia-Hydrocephalus Syndrome
Narrow chest, Short ribs, Respiratory insufficiency, Limb undergrowth, Respiratory failure, Thora... OMIM:273730
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome
Abnormal rib morphology ORPHA:2435
Achondrogenesis, Type Ii
Short ribs, Barrel-shaped chest, Short tubular bones of the hand, Absent vertebral body mineraliz... OMIM:200610
Dysosteosclerosis
Short sternum, Osteopenia, Platyspondyly, Sclerotic scapulae, Broad ribs, Delayed closure of the ... OMIM:224300
Thanatophoric Dysplasia, Type I
Narrow chest, Wide-cupped costochondral junctions, Small abnormally formed scapulae, Metaphyseal ... OMIM:187600
Lethal Recessive Chondrodysplasia
Narrow chest, Respiratory distress, Macroglossia, Micrognathia, Micromelia, Limb undergrowth, Gen... ORPHA:1423
Sprengel Deformity
Sprengel anomaly, Neck muscle hypoplasia, Hemivertebrae, Shoulder muscle hypoplasia, Scoliosis, S... OMIM:184400
Autosomal Recessive Spondylocostal Dysostosis
Vertebral segmentation defect, Rib fusion, Kyphosis, Congenital diaphragmatic hernia, Camptodacty... ORPHA:2311
Spondylometaphyseal Dysplasia, Type A4
Sclerotic humeral metaphysis, Metaphyseal irregularity, Irregular capital femoral epiphysis, Broa... OMIM:609052
Heart Defects-Limb Shortening Syndrome
Narrow chest, Kyphosis, Mesomelic/rhizomelic limb shortening, Abnormal form of the vertebral bodi... ORPHA:1354
Spondylometaphyseal Dysplasia, East African Type
Coxa vara, Metaphyseal spurs, Metaphyseal widening, Brachydactyly, Genu varum, Bell-shaped thorax... OMIM:611702
Three M Syndrome 1
Increased vertebral height, Pectus excavatum, Clinodactyly of the 5th finger, Joint dislocation, ... OMIM:273750
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Narrow chest, Respiratory distress, Short ribs, Hypoplasia of the radius, Hypoplastic ilia, Posta... OMIM:617895
Fibrochondrogenesis 1
Short neck, Platyspondyly, Rhizomelia, Dumbbell-shaped long bone, Posterior rib cupping, Short lo... OMIM:228520
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Narrow chest, Metaphyseal cupping, Dysplastic sacrum, Short ribs, Iliac crest serration, Short ne... OMIM:613320
Bone Dysplasia, Lethal Holmgren Type
Narrow chest, Abnormality of femur morphology, Metaphyseal dysplasia, Joint dislocation, Short ri... ORPHA:1842
Lethal Congenital Contracture Syndrome 3
Multiple joint contractures, Respiratory insufficiency, Neonatal death, Arthrogryposis multiplex ... OMIM:611369
Metatropic Dysplasia
Narrow chest, Joint stiffness, Abnormal enchondral ossification, Halberd-shaped pelvis, Clinodact... ORPHA:2635
Fibrochondrogenesis
Narrow chest, Short ribs, Camptodactyly of finger, Short neck, Brachydactyly, Micromelia, Abnorma... ORPHA:2021
Myopathy, Areflexia, Respiratory Distress, And Dysphagia, Early-Onset
Respiratory distress, Muscle fiber necrosis, Pectus excavatum, EMG: myopathic abnormalities, Diap... OMIM:614399
Femoral-Facial Syndrome
Sprengel anomaly, Rib fusion, Coxa vara, Vertebral segmentation defect, Aplasia/Hypoplasia of the... ORPHA:1988
Achondrogenesis, Type Ia
Hypoplastic sacrum, Hypoplasia of the radius, Barrel-shaped chest, Short neck, Micromelia, Severe... OMIM:200600
Hypophosphatasia, Infantile
Bowing of the legs, Apnea, Metaphyseal cupping, Widely patent fontanelles and sutures, Craniosyno... OMIM:241500
Rhizomelic Dysplasia, Scoliosis, And Retinitis Pigmentosa
Short clavicles, Short ribs, Short humerus, Short neck, Short femoral neck, Scoliosis, Biconcave ... OMIM:610319
Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly
Narrow chest, Short ribs, Brachydactyly, Polydactyly, Scoliosis, Short long bone OMIM:613819
Seckel Syndrome 4
11 pairs of ribs, Steep acetabular roof OMIM:613676
Mesomelic Dysplasia, Kantaputra Type
Vertebral segmentation defect, Clinodactyly of the 5th finger, Camptodactyly of finger, Abnormali... ORPHA:1836
Spondylometaphyseal Dysplasia, A4 Type
Coxa vara, Platyspondyly, Micromelia, Short palm, Flared, irregular rib ends, Limitation of joint... ORPHA:168555
Cerebrofaciothoracic Dysplasia
Sprengel anomaly, Rib fusion, Bifid ribs, Narrow chest, Vertebral segmentation defect, Hemiverteb... ORPHA:1394
Metaphyseal Dysostosis, Mental Retardation, And Conductive Deafness
Broad phalanx, Genu valgum, Irregular iliac crest, Short long bone, Metaphyseal irregularity, Sho... OMIM:250420
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Decreased fibular diameter, Flexion contracture, Multiple rib fractures, Short ribs, Short femur,... OMIM:616897
Cooper-Jabs Syndrome
Congenital diaphragmatic hernia, Abnormal hip bone morphology, Reduced bone mineral density, Camp... ORPHA:1488
Pyknoachondrogenesis
Muscular edema, Enlarged thorax, Abnormal iliac wing morphology, Sclerosis of skull base, Unossif... ORPHA:3003
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Respiratory distress, Clinodactyly of the 5th finger, Arachnodactyly, Hemivertebrae, Abnormal for... ORPHA:2759
Dyssegmental Dysplasia, Silverman-Handmaker Type
Narrow chest, Bowing of the legs, Miscarriage, Limitation of joint mobility, Flexion contracture,... ORPHA:1865
Pallister-Hall-Like Syndrome
Short ribs, Micrognathia, Micromelia, Postaxial hand polydactyly, Death in infancy, Hip dislocation OMIM:241800
Lethal Kniest-Like Dysplasia
Narrow chest, Hypoplastic vertebral bodies, Short ribs, Hypoplastic ilia, Flared metaphysis, Shor... ORPHA:2347
Braddock Syndrome
Pectus excavatum, Micrognathia, Hemivertebrae, Short neck, Scoliosis, Missing ribs, Congenital mu... ORPHA:52047
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Radial bowing, 2-3 toe syndactyly, Postaxial polydactyly, Short ribs, Preaxial polydactyly, Micro... OMIM:617866
Odontochondrodysplasia 1
Respiratory distress, Cone-shaped epiphyses of the phalanges of the hand, Platyspondyly, Micromel... OMIM:184260
Greenberg Dysplasia
Anterior rib punctate calcifications, Horizontal sacrum, Barrel-shaped chest, Platyspondyly, 11 p... OMIM:215140
Spondylometaphyseal Dysplasia, Axial
Narrow chest, Coxa vara, Narrow greater sciatic notch, Platyspondyly, Anterior rib cupping, Short... OMIM:602271
Jeune Syndrome
Narrow chest, Abnormal sternum morphology, Abnormal clavicle morphology, Cone-shaped epiphysis, R... ORPHA:474
Vater-Like Defects With Pulmonary Hypertension, Laryngeal Webs, And Growth Deficiency
Pectus excavatum, Abnormal rib cage morphology, Hemivertebrae, Posterior rib fusion, Pulmonary ar... OMIM:608406
Cerebral-Cerebellar-Coloboma Syndrome, X-Linked
Abnormal rib morphology, Apnea OMIM:300864
Heyn-Sproul-Jackson Syndrome
Broad metacarpals, Broad phalanx, 11 pairs of ribs, Short phalanx of finger, Short metacarpal OMIM:618724
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type
Broad phalanx, Pectus excavatum, Platyspondyly, Micromelia, C1-C2 subluxation, Hip subluxation, P... OMIM:271665
Basal Cell Nevus Syndrome
Sprengel anomaly, Bifid ribs, Short distal phalanx of the thumb, Abnormal sternum morphology, Kyp... OMIM:109400
Atelosteogenesis Type Ii
Broad phalanx, Short neck, Micromelia, Upper limb undergrowth, Dumbbell-shaped femur, Rhizomelic ... ORPHA:56304
Spondyloepimetaphyseal Dysplasia, Irapa Type
Coxa vara, Limitation of joint mobility, Short metacarpal, Osteoarthritis, Platyspondyly, Synosto... ORPHA:93351
Lethal Congenital Contracture Syndrome Type 1
Recurrent fractures, Abnormal hip bone morphology, Micrognathia, Short neck, Abnormal form of the... ORPHA:1486
Dyssegmental Dysplasia, Rolland-Desbuquois Type
Narrow chest, Advanced ossification of carpal bones, Limitation of joint mobility, Joint contract... OMIM:224400
Cleidocranial Dysplasia 1
Respiratory distress, Cone-shaped epiphyses of the phalanges of the hand, Absent frontal sinuses,... OMIM:119600
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Respiratory distress, Abnormal sternum morphology, Short ribs, Abnormal rib morphology, Postaxial... ORPHA:2519
Isolated Klippel-Feil Syndrome
Sprengel anomaly, Cervical C2/C3 vertebral fusion, Abnormal vertebral segmentation and fusion, Sh... ORPHA:2345
Odontochondrodysplasia
Narrow chest, Respiratory distress, Cone-shaped epiphysis, Platyspondyly, Micromelia, Scoliosis, ... ORPHA:166272
Otopalatodigital Syndrome, Type Ii
Pectus excavatum, Radial deviation of the 2nd finger, Femoral bowing, Congenital hip dislocation,... OMIM:304120
Osteogenesis Imperfecta, Type Ix
Recurrent fractures, Kyphosis, Pectus excavatum, Decreased calvarial ossification, Platyspondyly,... OMIM:259440
Mucolipidosis Iii Alpha/Beta
Irregular carpal bones, Soft tissue swelling of interphalangeal joints, Craniosynostosis, Short r... OMIM:252600
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Cone-shaped epiphyses of the phalanges of the hand, Short long bone, Short ribs, Brachydactyly, B... OMIM:615630
Multiple Pterygium Syndrome, Escobar Variant
Multiple joint contractures, Weakness of facial musculature, Down-sloping shoulders, Short neck, ... OMIM:265000
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Distal shortening of limbs, Metaphyseal cupping of proximal phalanges, Metaphyseal cupping, Thin ... OMIM:300863
Hereditary Myopathy With Early Respiratory Failure
Hypertrophied muscle fibers, Reduced vital capacity, Internally nucleated skeletal muscle fibers,... ORPHA:178464
Congenital Diaphragmatic Hernia
Respiratory distress, Prominent sternum, Congenital diaphragmatic hernia, Aplasia/Hypoplasia of t... ORPHA:2140
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Irregular vertebral endplates, Beaking of vertebral bodies, Cone-shaped epiphyses of the phalange... OMIM:609616
Craniodiaphyseal Dysplasia
Abnormal rib morphology, Craniofacial hyperostosis, Diaphyseal thickening ORPHA:1513
Neurogenic Arthrogryposis Multiplex Congenita
Respiratory distress, Hip contracture, Ankle flexion contracture, Respiratory insufficiency due t... ORPHA:1143
Dyggve-Melchior-Clausen Disease
Broad carpal bones, Short neck, Abnormality of the ankles, Hypoplasia of the capital femoral epip... ORPHA:239
Prieto Syndrome
Coxa valga, 11 pairs of ribs, Osteoporosis, Patellar subluxation, Clinodactyly, Radial deviation ... OMIM:309610
Myotonia With Skeletal Abnormalities And Mental Retardation
Kyphoscoliosis, Skeletal muscle hypertrophy, Irregular femoral epiphysis, Pectus carinatum, Bell-... OMIM:255710
Diastrophic Dysplasia
Abnormal clavicle morphology, Micromelia, Symphalangism affecting the phalanges of the hand, Ulna... ORPHA:628
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Narrow chest, Postaxial polydactyly, Respiratory insufficiency, Brachydactyly, Bell-shaped thorax... OMIM:615633
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Respiratory distress, Lumbar hyperlordosis, Spinal rigidity, Thigh hypertrophy, Calf muscle hyper... ORPHA:86812
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Abnormality of the cervical spine, Superior rib anomalies OMIM:307500
Pontine Tegmental Cap Dysplasia
Rib fusion, Ankle clonus, Hemivertebrae, Scoliosis, Aspiration, Facial palsy OMIM:614688
Spinal muscular atrophy, type I, with congenital bone fractures
Respiratory distress, Pectus excavatum, Acute infantile spinal muscular atrophy, Flexion contract... OMIM:271225
Spondyloepimetaphyseal Dysplasia, Irapa Type
Coxa vara, Metaphyseal dysplasia, Lumbar hyperlordosis, Hypoplastic sacrum, Osteoarthritis, Platy... OMIM:271650
Isolated Congenital Hypoglossia/Aglossia
Respiratory distress, Aspiration pneumonia, Micrognathia, Upper airway obstruction, Dyspnea, Apla... ORPHA:141152
Poland Syndrome
Hemivertebrae, Cone-shaped epiphysis, Short neck, Abnormality of the humerus, Pectus carinatum, S... ORPHA:2911
Kniest-Like Dysplasia, Lethal
Narrow chest, Metaphyseal irregularity, Hypoplastic vertebral bodies, Short ribs, Hypoplastic ili... OMIM:245190
Meier-Gorlin Syndrome 1
Respiratory distress, Absent glenoid fossa, Hemivertebrae, Pectus carinatum, Genu valgum, Elbow d... OMIM:224690
Metaphyseal Chondrodysplasia, Schmid Type
Femoral bowing, Platyspondyly, Short long bone, Metaphyseal irregularity, Metaphyseal cupping of ... ORPHA:174
Renal Dysplasia-Limb Defects Syndrome
Aplasia of the ulna, Respiratory distress, Short sternum, Short metacarpal, Thin ribs, Short ribs... OMIM:266910
Short Rib-Polydactyly Syndrome
Cone-shaped epiphysis, Micromelia, Bowing of the long bones, Respiratory failure, Short long bone... ORPHA:1505
Thoraco-Abdominal Enteric Duplication
Respiratory insufficiency, Camptodactyly of finger, Missing ribs ORPHA:1759
Perching Syndrome
Respiratory distress, Flexion contracture, Camptodactyly OMIM:617055
Myotubular Myopathy With Abnormal Genital Development
Respiratory distress, Thin ribs, Neonatal death, Death in infancy, Joint hypermobility, Centrally... OMIM:300219
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Rib fusion, Thin ribs, Short ribs, Supernumerary vertebrae, Hemivertebrae, Short neck, Scoliosis,... OMIM:271520
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type
Bowing of the legs, Pectus excavatum, Metaphyseal spurs, Dysplastic iliac wing, Short long bone, ... OMIM:608728
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3
Irregular vertebral endplates, Metaphyseal irregularity, Dislocated radial head, Knee dislocation... OMIM:618395
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies
Abnormal rib morphology, Micrognathia, Hypoplastic distal segments of scapulae, Pectus excavatum OMIM:602196
Pelvis-Shoulder Dysplasia
Dislocated radial head, Lumbar hyperlordosis, Long clavicles, Aplasia/Hypoplasia of the clavicles... ORPHA:2839
Spondylometaphyseal Dysplasia, Kozlowski Type
Enlarged joints, Cone-shaped epiphyses of the phalanges of the hand, Halberd-shaped pelvis, Platy... OMIM:184252
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Respiratory distress, Respiratory insufficiency due to muscle weakness, Type 1 fibers relatively ... OMIM:300580
Nail-Patella Syndrome
Pectus excavatum, Glenoid fossa hypoplasia, Biceps aplasia, Triceps aplasia, Hypoplastic radial h... OMIM:161200
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
Sprengel anomaly, Rib fusion, Bifid ribs, Pectus excavatum, Narrow chest, Overlapping toe, Beakin... OMIM:213980
Spondylometaphyseal Dysplasia, Sedaghatian Type
Cone-shaped epiphyses of the phalanges of the hand, Short neck, 11 pairs of ribs, Platyspondyly, ... OMIM:250220
Nemaline Myopathy 2
Apnea, Weakness of facial musculature, Increased variability in muscle fiber diameter, Fatty repl... OMIM:256030
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly
Narrow chest, Acetabular spurs, Short ribs, Postaxial polydactyly, Femoral bowing, Preaxial polyd... OMIM:615503
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita
Kyphosis, Increased endomysial connective tissue, Reduced vital capacity, Flexion contracture, Mi... ORPHA:178148
Van Den Ende-Gupta Syndrome
Pectus excavatum, Craniosynostosis, Femoral bowing, Tapered finger, Glenoid fossa hypoplasia, Lon... OMIM:600920
Grant Syndrome
Sprengel anomaly, Narrow chest, Joint dislocation, Abnormality of the glenoid fossa, Micrognathia... ORPHA:2097
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 2
Narrow chest, Vertebral segmentation defect, Hemivertebrae, 11 pairs of ribs, Rhizomelia OMIM:617661
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Narrow chest, Abnormal clavicle morphology, Micrognathia, Short neck, Platyspondyly, Abnormal rib... ORPHA:93267
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Respiratory distress, Kyphoscoliosis, Distal amyotrophy OMIM:619099
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Narrow chest, Metaphyseal irregularity, Cone-shaped epiphyses of the phalanges of the hand, Later... OMIM:208500
Craniodiaphyseal Dysplasia, Autosomal Dominant
Facial diplegia, Thickened ribs, Cortical sclerosis, Diaphyseal sclerosis, Craniofacial osteoscle... OMIM:122860
Schneckenbecken Dysplasia
Narrow chest, Hypoplastic vertebral bodies, Short ribs, Increased fibular diameter, Hypoplastic i... ORPHA:3144
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Acetabular spurs, Absent tibia, Metaphyseal spurs, Short long bone, Short ribs, Postaxial polydac... OMIM:613091
Kniest Dysplasia
Enlarged joints, Respiratory distress, Pectus excavatum, Short neck, Platyspondyly, Hypoplastic p... OMIM:156550
Metaphyseal Chondrodysplasia, Jansen Type
Hip contracture, Clinodactyly of the 5th finger, Metaphyseal cupping, Short ribs, Micrognathia, O... OMIM:156400
Lethal Congenital Contracture Syndrome 1
Hypoplasia of the musculature, Widening of cervical spinal canal, Micrognathia, Neonatal death, A... OMIM:253310
Proximal 16P11.2 Microdeletion Syndrome
Rib fusion, Congenital diaphragmatic hernia, Craniosynostosis, Micrognathia, Scoliosis, Abnormal ... ORPHA:261197
Autosomal Recessive Multiple Pterygium Syndrome
Vertebral segmentation defect, Rib fusion, Pectus excavatum, Abnormal sternum morphology, Multipl... ORPHA:2990
Aicardi Syndrome
Bifid ribs, Rib fusion, Butterfly vertebrae, Small hand, Scoliosis, Missing ribs, Block vertebrae... ORPHA:50
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Narrow chest, Short distal phalanx of finger, Short ribs, Postaxial polydactyly, Brachydactyly, P... OMIM:614091
Pleural Mesothelioma
Respiratory distress, Cough, Abnormal thorax morphology, Pleural effusion, Dyspnea, Abnormal resp... ORPHA:50251
Spondyloepimetaphyseal Dysplasia, Strudwick Type
Metaphyseal irregularity, Coxa vara, Narrow greater sciatic notch, Club-shaped proximal femur, Pl... OMIM:184250
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods
Nemaline bodies, Widening of cervical spinal canal, Cervical vertebral bodies with decreased ante... OMIM:606842
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Metaphyseal irregularity, Tibial bowing, Metaphyseal cupping, Coxa vara, Joint stiffness, Narrow ... OMIM:608940
Thin Ribs-Tubular Bones-Dysmorphism Syndrome
Abnormal rib morphology, Slender long bone, Abnormal pelvic girdle bone morphology ORPHA:1506
Diaphanospondylodysostosis
Vertebral segmentation defect, Respiratory distress, Unossified sacrum, Tracheomalacia, Micrognat... OMIM:608022
Lethal Congenital Contracture Syndrome 5
Thin ribs, Flexion contracture, Respiratory insufficiency, Death in infancy, Centrally nucleated ... OMIM:615368
Aicardi Syndrome
Bifid ribs, Rib fusion, Butterfly vertebrae, Hemivertebrae, Scoliosis, Missing ribs, Recurrent pn... OMIM:304050
Myopathy And Diabetes Mellitus
Respiratory distress, Weakness of facial musculature, Pelvic girdle muscle weakness, Weakness of ... ORPHA:2596
Spondyloepiphyseal Dysplasia Congenita
Respiratory distress, Coxa vara, Kyphosis, Lumbar hyperlordosis, Atlantoaxial instability, Delaye... OMIM:183900
Myasthenic Syndrome, Congenital, 6, Presynaptic
Respiratory distress, Type 2 muscle fiber atrophy, Arthrogryposis multiplex congenita, Apneic epi... OMIM:254210
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Narrow chest, Congenital diaphragmatic hernia, Postaxial polydactyly, Short ribs, Preaxial polyda... OMIM:616546
Hypomyelination Neuropathy-Arthrogryposis Syndrome
Respiratory distress, Limitation of joint mobility ORPHA:2680
Myasthenic Syndrome, Congenital, 4A, Slow-Channel
Respiratory distress, Respiratory insufficiency due to muscle weakness, Type 2 muscle fiber atrop... OMIM:605809
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Apnea, Abnormal 5th metacarpal morphology, Cone-shaped epiphysis, Rhizomelic arm shortening, Twel... ORPHA:397715
Congenital Contractures Of The Limbs And Face, Hypotonia, And Developmental Delay
Hip contracture, Adducted thumb, Micrognathia, Respiratory insufficiency, Short neck, 11 pairs of... OMIM:616266
Klippel-Feil Syndrome 1, Autosomal Dominant
Sprengel anomaly, Cervical C2/C3 vertebral fusion, Abnormal vertebral segmentation and fusion, Sh... OMIM:118100
Ellis-Van Creveld Syndrome
Narrow chest, Acetabular spurs, Short ribs, Cone-shaped epiphyses of phalanges 2 to 5, Pectus car... OMIM:225500
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Short clavicles, Finger syndactyly, Flexion contracture, Short ribs, Absent middle phalanx of 3rd... OMIM:308050
Osteogenesis Imperfecta, Type Ii
Recurrent fractures, Tibial bowing, Thin ribs, Respiratory insufficiency, Platyspondyly, Crumpled... OMIM:166210
Pseudoachondroplasia
Fragmented epiphyses, Irregular carpal bones, Fragmented, irregular epiphyses, Platyspondyly, Sma... OMIM:177170
Osteogenesis Imperfecta, Type Xv
Recurrent fractures, Thin ribs, Platyspondyly, Scoliosis, Joint hypermobility, Bowing of limbs du... OMIM:615220
Rigid Spine Muscular Dystrophy 1
Increased endomysial connective tissue, Abnormal rib cage morphology, Flexion contracture, Spinal... OMIM:602771
Blomstrand Lethal Chondrodysplasia
Narrow chest, Distal shortening of limbs, Metaphyseal cupping, Increased bone mineral density, Sh... ORPHA:50945
Spondyloepimetaphyseal Dysplasia, Missouri Type
Coxa vara, Tibial bowing, Metaphyseal cupping, Radial bowing, Flared iliac wing, Femoral bowing, ... OMIM:602111
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Kyphosis, Abnormal clavicle morphology, Pectus excavatum, Abnormal hip bone morphology, Micrognat... ORPHA:2522
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Short distal phalanx of finger, Vertebral segmentation defect, Congenital diaphragmatic hernia, R... ORPHA:1120
Atelosteogenesis, Type I
Aplasia/Hypoplasia of the ulna, Short neck, 11 pairs of ribs, Rhizomelia, Clubbing, Multinucleate... OMIM:108720
Lethal Osteosclerotic Bone Dysplasia
Respiratory distress, Delayed cranial suture closure, Micrognathia, Short neck, Mandibular aplasi... ORPHA:1832
Melnick-Needles Syndrome
Narrow chest, Short distal phalanx of finger, Short clavicles, Cone-shaped epiphyses of the phala... ORPHA:2484
Radio-Renal Syndrome
Respiratory distress, Chylothorax, Hypoplasia of the radius, Micrognathia, Short neck, Brachydact... ORPHA:3015
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Narrow chest, Short distal phalanx of finger, Cone-shaped epiphyses of the phalanges of the hand,... OMIM:617102
Mosaic Trisomy 14
Narrow chest, Micrognathia, Camptodactyly of finger, Short neck, Abnormal rib morphology ORPHA:1703
Axial Mesodermal Dysplasia Spectrum
Vertebral segmentation defect, Congenital diaphragmatic hernia, Micrognathia, Short neck, Scolios... ORPHA:1834
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2
Abnormal rib morphology, Short neck, Vertebral segmentation defect ORPHA:2578
Severe X-Linked Mitochondrial Encephalomyopathy
Respiratory distress, Respiratory insufficiency, Increased variability in muscle fiber diameter, ... ORPHA:238329
Holt-Oram Syndrome
Sprengel anomaly, Joint stiffness, Kyphosis, Abnormal clavicle morphology, Pectus excavatum, Abse... ORPHA:392
Hypophosphatasia
Narrow chest, Recurrent fractures, Craniosynostosis, Respiratory insufficiency, Abnormal rib morp... ORPHA:436
Noonan Syndrome 12
Proximal placement of thumb, Spinal canal stenosis, Pectus excavatum, 11 pairs of ribs OMIM:618624
Congenital Disorder Of Glycosylation, Type Ig
Butterfly vertebrae, Short femur, Hypoplasia of the radius, Short ribs, Short tibia, Short humeru... OMIM:607143
Robinow Syndrome, Autosomal Recessive 1
Pectus excavatum, Hypoplastic sacrum, Hypoplasia of the radius, Hemivertebrae, Duplication of the... OMIM:268310
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Aplasia/Hypoplasia of the ulna, Abnormality of femur morphology, Clinodactyly of the 5th finger, ... ORPHA:2141
Autosomal Dominant Centronuclear Myopathy
Miscarriage, Thin ribs, Proximal muscle weakness in lower limbs, Calf muscle hypertrophy, EMG: my... ORPHA:169189
Juberg-Hayward Syndrome
Abnormality of finger, Hypoplasia of the radius, Scoliosis, Radioulnar synostosis, Abnormal rib m... ORPHA:2319
Mucopolysaccharidosis, Type Iva
Pointed proximal second through fifth metacarpals, Prominent sternum, Anterior beaking of lumbar ... OMIM:253000
Dextrocardia With Unusual Facies And Microphthalmia
Vertebral segmentation defect, Supernumerary ribs, Vertebral fusion, Micrognathia OMIM:221950
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 6
Respiratory distress, Arthrogryposis-like hand anomaly, Diaphragmatic eventration, Paradoxical re... OMIM:620011
Shwachman-Diamond Syndrome 1
Narrow chest, Coxa vara, Respiratory distress, Metaphyseal chondrodysplasia, Narrow greater sciat... OMIM:260400
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Narrow chest, Microretrognathia, Short ribs, Postaxial polydactyly, Preaxial polydactyly, Respira... OMIM:616300
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy
Coxa vara, Prominent sternum, Thin ribs, Flexion contracture, Flared iliac wing, Metaphyseal wide... OMIM:300232
Achondrogenesis Type 1B
Narrow chest, Micrognathia, Short neck, Micromelia, Abnormal rib morphology, Short foot, Short th... ORPHA:93298
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density
Short femur, Hypoplasia of the radius, Short tibia, Lytic defects of humeral diaphysis, Absent os... OMIM:601376
Short-Rib Thoracic Dysplasia 12
Narrow chest, Bowing of the legs, Short toe, Short ribs, Respiratory insufficiency, Bowing of the... OMIM:269860
Cdags Syndrome
Kyphosis, Short clavicles, Short ribs, Coronal craniosynostosis, Delayed cranial suture closure, ... OMIM:603116
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome
Abnormality of the humeroulnar joint, Hemivertebrae, Short neck, Abnormal form of the vertebral b... ORPHA:2234
Dyggve-Melchior-Clausen Disease
Cone-shaped epiphyses of the phalanges of the hand, Prominent sternum, Femoral bowing, Barrel-sha... OMIM:223800
Thoracic Outlet Syndrome
Abnormal rib morphology ORPHA:97330
Weaver Syndrome
Prominent fingertip pads, Short fourth metatarsal, Flared humeral metaphysis, Flared femoral meta... OMIM:277590
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis
Respiratory distress, Joint swelling, Periostitis, Osteomyelitis, Osteopenia, Fused cervical vert... OMIM:612852
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Narrow chest, Lateral clavicle hook, Short ribs, Preaxial hand polydactyly, Platyspondyly, Brachy... OMIM:263520
10Q22.3Q23.3 Microduplication Syndrome
Abnormal rib morphology, Abnormal clavicle morphology, Microretrognathia ORPHA:276422
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency
Respiratory distress, Increased muscle glycogen content, Macroglossia, Respiratory failure requir... ORPHA:254864
Caudal Regression Syndrome
Joint stiffness, Hypoplastic vertebral bodies, Abnormal iliac wing morphology, Abnormal vertebral... ORPHA:3027
Bronchopulmonary Dysplasia
Respiratory distress, Hyperoxemia, Right ventricular hypertrophy, Abnormal respiratory system phy... ORPHA:70589
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction
Hyperextensibility of the finger joints, Respiratory insufficiency, 11 pairs of ribs OMIM:618356
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Narrow chest, Narrow greater sciatic notch, Short ribs, Postaxial polydactyly, Preaxial polydacty... OMIM:617925
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Respiratory distress, Respiratory insufficiency due to muscle weakness, Weakness of facial muscul... ORPHA:254875
Becker Nevus Syndrome
Hemivertebrae, Cervical ribs, Pectus excavatum, Scoliosis OMIM:604919
Spondylometaphyseal Dysplasia, Kozlowski Type
Abnormal humeral metaphysis morphology, Platyspondyly, Pectus carinatum, Premature osteoarthritis... ORPHA:93314
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Flexion contracture of thumb, Miscarriage, Pectus excavatum, Prominent sternum, Absent glenoid fo... ORPHA:96334
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome
Abnormal muscle fiber morphology, Clinodactyly of the 5th finger, Abnormal hip bone morphology, P... ORPHA:3068
Osteogenesis Imperfecta, Type Iii
Recurrent fractures, Tibial bowing, Kyphosis, Thin ribs, Micrognathia, Decreased calvarial ossifi... OMIM:259420
Meier-Gorlin Syndrome 3
Narrow chest, Coxa vara, Microretrognathia, Short ribs, Tracheomalacia, Micrognathia, Aplasia/Hyp... OMIM:613803
Cortical Defects, Wormian Bones, And Dentinogenesis Imperfecta
Asymmetry of the thorax, Thin ribs, Epiphyseal streaking, Clinodactyly of the 4th toe, Wormian bo... OMIM:604922
Severe Congenital Nemaline Myopathy
Facial diplegia, Nemaline bodies, Flexion contracture, Thin ribs, Abnormality of the diaphragm, A... ORPHA:171430
Osteogenesis Imperfecta, Type Xvi
Narrow chest, Recurrent fractures, Microretrognathia, Multiple rib fractures, Osteopenia, Decreas... OMIM:616229
Congenital Disorder Of Glycosylation, Type Iy
Respiratory distress, Joint dislocation, Micrognathia, Scoliosis, Clinodactyly OMIM:300934
Laryngotracheoesophageal Cleft Type 4
Abnormal rib morphology, Respiratory insufficiency, Abnormal form of the vertebral bodies ORPHA:93941
Achondrogenesis Type 1A
Narrow chest, Recurrent fractures, Multiple rib fractures, Micrognathia, Short neck, Micromelia, ... ORPHA:93299
Lymphangiectasia, Intestinal
Stillbirth, Prominent floating ribs OMIM:152800
White Forelock With Malformations
Sprengel anomaly, Clinodactyly of the 5th finger, Spina bifida occulta, Abnormal rib morphology, ... ORPHA:2475
Acrorenal-Mandibular Syndrome
Hypoplasia of the radius, Hemivertebrae, Rudimentary fibula, Hypoplasia of the ulna, Micrognathia... OMIM:200980
Campomelic Dysplasia
Narrow chest, Poorly ossified cervical vertebrae, Small abnormally formed scapulae, Tibial bowing... ORPHA:140
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
Short toe, Pectus excavatum, Prominent sternum, Clinodactyly of the 5th finger, Spondylolisthesis... OMIM:617877
Congenital Pseudoarthrosis Of The Clavicle
Congenital pseudoarthrosis of the clavicle, Cervical ribs ORPHA:66630
3M Syndrome
Congenital hip dislocation, Micromelia, Short neck, Hypoplasia of the ulna, Hypoplastic pelvis, R... ORPHA:2616
Ossification Anomalies-Psychomotor Developmental Delay Syndrome
Narrow chest, Short distal phalanx of finger, Abnormal bone ossification, Thin ribs, Triangular s... ORPHA:73230
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development
Thin ribs, Craniosynostosis, Micrognathia, Brachydactyly, Arthrogryposis multiplex congenita OMIM:618265
Cree Mental Retardation Syndrome
Pectus excavatum, Micrognathia, Aplasia/Hypoplasia of the ribs, Rocker bottom foot, Cutaneous fin... OMIM:606851
Congenital Disorder Of Glycosylation, Type Iu
Respiratory distress, Micrognathia, Scoliosis, Death in infancy, Neonatal respiratory distress, C... OMIM:615042
Muscular Hypertonia, Lethal
Respiratory distress, Death in infancy, Pneumonia OMIM:254120
Mucopolysaccharidosis Type 4
Spinal canal stenosis, Kyphosis, Joint dislocation, Reduced bone mineral density, Short neck, Pla... ORPHA:582
Cog1-Cdg
Posterior rib gap, Rib fusion, Vertebral segmentation defect, Kyphoscoliosis, Butterfly vertebrae... ORPHA:263508
Mucopolysaccharidosis, Type Ivb
Pointed proximal second through fifth metacarpals, Kyphosis, Prominent sternum, Constricted iliac... OMIM:253010
Emphysema, Congenital Lobar
Respiratory distress OMIM:130710
Mucopolysaccharidosis, Type X
Beaking of vertebral bodies, Left ventricular hypertrophy, Platyspondyly, Scoliosis, Broad clavic... OMIM:619698
Osteogenesis Imperfecta, Type Xviii
Recurrent fractures, Thin ribs, Femoral bowing, Micrognathia, Biconcave vertebral bodies, Wormian... OMIM:617952
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome
Kyphosis, Aplasia/Hypoplasia of fingers, Clinodactyly of the 5th finger, Micrognathia, Broad hall... ORPHA:3082
Multiple Pterygium Syndrome, X-Linked
Amyoplasia, Multiple pterygia, Joint dislocation, Thin ribs, Flexion contracture, Micrognathia, A... OMIM:312150
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
Delayed proximal femoral epiphyseal ossification, Short neck, 11 pairs of ribs, Platyspondyly, Ge... OMIM:271640
Sternum, Premature Obliteration Of Sutures Of
Premature sternal synostosis, Micrognathia, Short sternum OMIM:184800
Oculocerebrocutaneous Syndrome
Short distal phalanx of finger, Congenital diaphragmatic hernia, Congenital hip dislocation, Abno... ORPHA:1647
Kbg Syndrome
Rib fusion, Clinodactyly of the 5th finger, Ulnar deviation of the 2nd finger, Cutaneous syndacty... OMIM:148050
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Thin ribs, Micrognathia, Platyspondyly, Metaphyseal cupping of metacarpals, Abnormality of the ca... ORPHA:163966
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Metaphyseal irregularity, Tibial bowing, Delayed epiphyseal ossification, Bowing of the legs, Wid... OMIM:600081
Femoral-Facial Syndrome
Short fourth metatarsal, Hemivertebrae, Radioulnar synostosis, Sprengel anomaly, Rib fusion, Shor... OMIM:134780
Congenital Disorder Of Glycosylation, Type Iig
Vertebral segmentation defect, Butterfly vertebrae, Small hand, Left ventricular hypertrophy, Mic... OMIM:611209
Synaptic Congenital Myasthenic Syndromes
Respiratory distress, Sleep apnea, Hand muscle weakness, Right ventricular hypertrophy, Hypoventi... ORPHA:98915
Shprintzen-Goldberg Syndrome
Narrow chest, Joint stiffness, Apnea, Pectus excavatum, Craniosynostosis, Arachnodactyly, Microgn... ORPHA:2462
Familial Osteodysplasia, Anderson Type
Recurrent fractures, Kyphosis, Clinodactyly of the 5th finger, Scoliosis, Abnormal form of the ve... ORPHA:2769
Phosphoribosylaminoimidazole Carboxylase Deficiency
Clinodactyly of the 5th finger, Short neck, Neonatal death, Missing ribs, Lumbar hemivertebrae OMIM:619859
X-Linked Intellectual Disability-Dysmorphism-Cerebral Atrophy Syndrome
Finger clinodactyly, Osteoporosis, Patellar subluxation, Supernumerary ribs, Coxa valga ORPHA:2958
Brachytelephalangic Chondrodysplasia Punctata
C1-C2 subluxation, Epiphyseal stippling of toe phalanges, Cervical vertebral dysplasia, Epiphysea... ORPHA:79345
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Sprengel anomaly, Hemivertebrae, Brachydactyly, Scoliosis, Abnormal form of the vertebral bodies,... ORPHA:2180
Multiple Pterygium Syndrome, Lethal Type
Amyoplasia, Multiple pterygia, Joint dislocation, Thin ribs, Flexion contracture, Micrognathia, A... OMIM:253290
Autosomal Recessive Robinow Syndrome
Pectus excavatum, Short neck, Pectus carinatum, Sandal gap, Sacral dimple, Elbow dislocation, Sho... ORPHA:1507
1P36 Deletion Syndrome
Bifid ribs, Rib fusion, Joint stiffness, Clinodactyly of the 5th finger, Kyphosis, Spinal canal s... ORPHA:1606
Phaver Syndrome
Joint stiffness, Butterfly vertebrae, Camptodactyly of finger, Broad hallux phalanx, Abnormal for... ORPHA:2876
Acro-Renal-Mandibular Syndrome
Sprengel anomaly, Kyphosis, Abnormal clavicle morphology, Butterfly vertebrae, Congenital diaphra... ORPHA:958
Congenital Myasthenic Syndrome
Respiratory arrest, Congenital hip dislocation, Pectus carinatum, Sudden episodic apnea, Episodic... ORPHA:590
Presynaptic Congenital Myasthenic Syndromes
Respiratory arrest, Congenital hip dislocation, Pectus carinatum, Sudden episodic apnea, Episodic... ORPHA:98914
Cardiomyopathy, Dilated, 1Gg
Respiratory distress, Left ventricular noncompaction OMIM:613642
Microlissencephaly-Micromelia Syndrome
Respiratory distress, Adducted thumb, Short neck, 11 pairs of ribs, Micromelia ORPHA:50810
Klippel-Feil Syndrome 3, Autosomal Dominant
Cervical C5/C6 vertebrae fusion, Cervical C3/C4 vertebral fusion, Thoracic scoliosis OMIM:613702
Microcephaly, Short Stature, And Limb Abnormalities
Dislocated radial head, Clinodactyly of the 5th finger, Hypoplasia of the radius, Brachydactyly, ... OMIM:617604
Ulbright-Hodes Syndrome
Aplasia/Hypoplasia of the ulna, Respiratory distress, Short sternum, Short metacarpal, Thin ribs,... ORPHA:3404
Arthrogryposis, Distal, Type 3
Overlapping toe, Decreased hip abduction, Pectus excavatum, Lumbar hyperlordosis, Abnormal rib ca... OMIM:114300
Gaucher Disease Type 2
Respiratory distress, Abnormal pattern of respiration, Flexion contracture, Cough ORPHA:77260
Microcephalic Primordial Dwarfism, Toriello Type
Abnormal rib morphology, Abnormal epiphysis morphology, Brachydactyly ORPHA:2643
Mucopolysaccharidosis Type 6
Epiphyseal dysplasia, Joint stiffness, Kyphosis, Sinusitis, Macroglossia, Short neck, Genu valgum... ORPHA:583
Cat-Eye Syndrome
Abnormal rib morphology, Hip dysplasia ORPHA:195
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Narrow chest, Respiratory distress, Short clavicles, Short ribs, Postaxial polydactyly, Cone-shap... OMIM:617088
Osteogenesis Imperfecta, Type Xxi
Coxa vara, Bowing of the legs, Pectus excavatum, Recurrent fractures, Barrel-shaped chest, Bowing... OMIM:619131
Dyssegmental Dysplasia, Silverman-Handmaker Type
Short long bone, Micrognathia, Neonatal death, Anisospondyly, Bowing of the long bones, Thoracic ... OMIM:224410
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Recurrent fractures, Decreased calvarial ossification, Micromelia, Abnormal rib morphology, Joint... ORPHA:2772
Camptodactyly Syndrome, Guadalajara, Type I
Pectus excavatum, Horizontal sacrum, Pectus carinatum, Twelfth rib hypoplasia, Absent frontal sin... OMIM:211910
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Craniosynostosis, Osteopenia, Metacarpophalangeal joint hyperextensibility, Short neck, 11 pairs ... OMIM:245600
Focal Dermal Hypoplasia
Diastasis recti, Short clavicles, Congenital diaphragmatic hernia, Short ribs, Split foot, Hand p... ORPHA:2092
Developmental And Epileptic Encephalopathy 30
Respiratory distress, Death in infancy OMIM:616341
Wolf-Hirschhorn Syndrome
Rib fusion, Kyphosis, Congenital diaphragmatic hernia, Split hand, Arachnodactyly, Micrognathia, ... ORPHA:280
Microphthalmia, Syndromic 3
Rib fusion, Butterfly vertebrae, Hemivertebrae, Vertebral hypoplasia, Missing ribs, Supernumerary... OMIM:206900
Frontometaphyseal Dysplasia 1
Craniosynostosis, Increased density of long bone diaphyses, Genu valgum, Partial fusion of tarsal... OMIM:305620
Sialidosis Type 2
Kyphosis, Flexion contracture, Osteoporosis, Pectus carinatum, Short thorax, Dyspnea, Skeletal mu... ORPHA:87876
Mucolipidosis Iii Gamma
Joint stiffness, Kyphosis, Flat capital femoral epiphysis, Abnormal rib cage morphology, Flared i... OMIM:252605
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Tibial bowing, Radial bowing, Abnormally ossified vertebrae, Micrognathia, Abnormal rib morpholog... ORPHA:3035
Spondylometaphyseal Dysplasia, Algerian Type
Coxa vara, Hypoplasia of proximal radius, Metaphyseal dysplasia, Kyphoscoliosis, Lumbar hyperlord... OMIM:184253
Cole-Carpenter Syndrome
Recurrent fractures, Kyphosis, Micrognathia, Joint hyperflexibility, Wormian bones, Scoliosis, Ab... ORPHA:2050
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly
Femoral bowing, Platyspondyly, Broad hallux, Genu valgum, Rhizomelia, Ovoid vertebral bodies, Sho... OMIM:618019
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Increased bone mineral density, Micrognathia, Osteopenia, Broad femoral neck, Wormian bones, Shor... ORPHA:85184
Kniest Dysplasia
Enlarged joints, Flexion contracture of finger, Short neck, Platyspondyly, Abnormal bone structur... ORPHA:485
Restrictive Dermopathy 2
Respiratory distress, Short clavicles, Microretrognathia, Overtubulated long bones OMIM:619793
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Sprengel anomaly, Micrognathia, Abnormality of the vertebral column, Abnormal rib morphology OMIM:601076
Pallister-Hall Syndrome
Distal shortening of limbs, Rib fusion, Mesoaxial hand polydactyly, Mesoaxial foot polydactyly, H... OMIM:146510
X-Linked Centronuclear Myopathy
Necklace skeletal muscle fibers, Respiratory distress, Weakness of facial musculature, Type 1 fib... ORPHA:596
Epidermolysis Bullosa With Diaphragmatic Hernia
Congenital diaphragmatic hernia, Neonatal death OMIM:226735
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome
Rib fusion, Asthma, Clinodactyly of the 5th finger, Tapered toe, Tapered finger, Sacral dimple ORPHA:544488
Septopreoptic Holoprosencephaly
Abnormal rib morphology, Abnormal vertebral morphology ORPHA:280195
Osteogenesis Imperfecta, Type X
Narrow chest, Thin ribs, Generalized joint laxity, Micrognathia, Osteopenia, Platyspondyly, Micro... OMIM:613848
Baller-Gerold Syndrome
Hypoplasia of the radius, Hypoplasia of the ulna, Sagittal craniosynostosis, Rib fusion, Carpal s... OMIM:218600
Craniosynostosis, Herrmann-Opitz Type
Craniosynostosis, Micrognathia, Brachydactyly, Micromelia, Abnormal rib morphology, Split hand, F... ORPHA:2145
Acrofacial Dysostosis Syndrome Of Rodriguez
Overlapping toe, Short tibia, Micrognathia, 11 pairs of ribs, Triphalangeal thumb, Oligodactyly, ... OMIM:201170
Spondylometaphyseal Dysplasia, Sedaghatian Type
Narrow chest, Abnormal scapula morphology, Cone-shaped epiphysis, Iliac crest serration, Platyspo... ORPHA:93317
Ritscher-Schinzel Syndrome 1
Micrognathia, Hemivertebrae, Syndactyly, Missing ribs OMIM:220210
Klippel-Feil Syndrome 2, Autosomal Recessive
Sprengel anomaly, Cervical C2/C3 vertebral fusion, Short neck, Scoliosis, Fused cervical vertebrae OMIM:214300
Autosomal Recessive Kenny-Caffey Syndrome
Cortical thickening of long bone diaphyses, Stenosis of the medullary cavity of the long bones, T... ORPHA:93324
Chitayat Syndrome
Respiratory distress, Pectus excavatum, Tracheomalacia, Brachydactyly, Hallux valgus OMIM:617180
Schinzel-Giedion Midface Retraction Syndrome
Short distal phalanx of finger, Tibial bowing, Widely patent fontanelles and sutures, Short stern... OMIM:269150
Cleidocranial Dysplasia
Down-sloping shoulders, Tapered finger, Genu valgum, Abnormal epiphysis morphology, Clinodactyly ... ORPHA:1452
Osteogenesis Imperfecta, Type Viii
Recurrent fractures, Tibial bowing, Radial bowing, Kyphosis, Thin ribs, Femoral retroversion, Fem... OMIM:610915
Acrofacial Dysostosis 1, Nager Type
Overlapping toe, Short toe, Absent thumb, Hypoplasia of the radius, Absent radius, Micrognathia, ... OMIM:154400
Seckel Syndrome 5
Micrognathia, Clinodactyly of the 5th finger, 11 pairs of ribs OMIM:613823
Campomelic Dysplasia
Poorly ossified cervical vertebrae, Respiratory distress, Apnea, Femoral bowing, Short 1st metaca... OMIM:114290
Three M Syndrome 2
Lumbar hyperlordosis, Thin ribs, Short neck, Short 5th finger, Pectus carinatum, Slender long bon... OMIM:612921
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Respiratory distress, Multiple joint contractures, Pectus excavatum, Slender long bones with narr... ORPHA:536467
Immunodeficiency 95
Respiratory distress, Recurrent viral pneumonia, Respiratory failure OMIM:619773
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome
Respiratory distress ORPHA:171703
Diamond-Blackfan Anemia 10
Respiratory distress, Congenital diaphragmatic hernia, Micrognathia, Morgagni diaphragmatic herni... OMIM:613309
Arthrogryposis Multiplex Congenita 5
Kyphoscoliosis, Flexion contracture, Adducted thumb, Micrognathia, Short neck, 11 pairs of ribs, ... OMIM:618947
Renpenning Syndrome
Sprengel anomaly, Joint stiffness, Clinodactyly of the 5th finger, Pectus excavatum, Abnormal rib... ORPHA:3242
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Cone-shaped epiphyses of the phalanges of the hand, Craniosynostosis, Osteopenia, Short neck, Hyp... OMIM:266920
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Respiratory distress, Myopathy ORPHA:91130
Aspergillosis
Asthma, Sinusitis, Osteomyelitis, Chronic pulmonary obstruction, Abnormality of the vertebral col... ORPHA:1163
Seckel Syndrome 1
Dislocated radial head, Cone-shaped epiphyses of the phalanges of the hand, Clinodactyly of the 5... OMIM:210600
Tetraamelia-Multiple Malformations Syndrome
Abnormally ossified vertebrae, Micrognathia, Abnormal rib morphology, Missing ribs, Tetraamelia, ... ORPHA:3301
Short Chain Acyl-Coa Dehydrogenase Deficiency
Respiratory distress, Myopathy ORPHA:26792
3C Syndrome
Kyphosis, Abnormal hip bone morphology, Micrognathia, Hemivertebrae, Short neck, Brachydactyly, S... ORPHA:7
Cole-Carpenter Syndrome 2
Kyphosis, Pectus excavatum, Microretrognathia, Thin ribs, Coronal craniosynostosis, Osteopenia, P... OMIM:616294
Kenny-Caffey Syndrome, Type 1
Thin ribs, Long clavicles, Small hand, Thin clavicles, Slender long bone, Short foot, Delayed clo... OMIM:244460
Cranioectodermal Dysplasia 2
Narrow chest, Pectus excavatum, Short ribs, Craniosynostosis, Left ventricular hypertrophy, Micro... OMIM:613610
Cartilage-Hair Hypoplasia
Abnormally ossified vertebrae, Aplasia/Hypoplasia of the abdominal wall musculature, Short neck, ... ORPHA:175
Cardiospondylocarpofacial Syndrome
Rib fusion, Carpal synostosis, Congenital diaphragmatic hernia, Joint hypermobility, Cone-shaped ... OMIM:157800
Moebius Syndrome
Facial diplegia, Respiratory distress, Micrognathia, Short neck, Brachydactyly, Short phalanx of ... OMIM:157900
Hernia, Anterior Diaphragmatic
Congenital diaphragmatic hernia, Neonatal death OMIM:306950
Hallermann-Streiff Syndrome
Recurrent fractures, Clinodactyly of the 5th finger, Short ribs, Small hand, Micrognathia, Trache... ORPHA:2108
Cenani-Lenz Syndrome
Finger syndactyly, Hypoplasia of the radius, Synostosis of carpal bones, Micromelia, Short thumb,... ORPHA:3258
Campomelia, Cumming Type
Abnormally ossified vertebrae, Brachydactyly, Micromelia, Abnormal thorax morphology, Abnormal ri... ORPHA:1318
Prune Belly Syndrome
Vertebral segmentation defect, Pectus excavatum, Congenital hip dislocation, Aplasia of the abdom... ORPHA:2970
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Metaphyseal irregularity, Tibial bowing, Delayed epiphyseal ossification, Bowing of the legs, Wid... OMIM:241530
Chromosome 1P36 Deletion Syndrome, Distal
Bifid ribs, Rib fusion, Clinodactyly of the 5th finger, Camptodactyly of finger, 11 pairs of ribs... OMIM:607872
Microcephaly-Micromelia Syndrome
Narrow chest, Forearm undergrowth, Craniosynostosis, Short tibia, Micrognathia, Short neck, Micro... OMIM:251230
Arthrogryposis Multiplex Congenita 6
Nemaline bodies, Adducted thumb, Death in childhood, Increased variability in muscle fiber diamet... OMIM:619334
Brown-Vialetto-Van Laere Syndrome 1
Respiratory distress, Kyphosis, Ankle clonus, Respiratory insufficiency, Hand muscle atrophy, Sco... OMIM:211530
Congenital Disorder Of Glycosylation, Type Ie
Respiratory distress, Small hand, Micrognathia, Muscular dystrophy, Upper limb undergrowth, Campt... OMIM:608799
Craniometadiaphyseal Dysplasia
Sclerosis of skull base, Osteopenia, Flared metaphysis, Scoliosis, Wormian bones, Genu varum, Gen... OMIM:269300
Cranioectodermal Dysplasia 1
Narrow chest, Short distal phalanx of finger, Short toe, Pectus excavatum, Short ribs, Short hume... OMIM:218330
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Broad phalanx, Pectus excavatum, Short neck, Broad hallux, Hypermobility of interphalangeal joint... ORPHA:508498
Kyphomelic Dysplasia
Tibial bowing, Radial bowing, Limitation of joint mobility, Short metacarpal, Short femur, Undula... OMIM:211350
Robinow Syndrome
Short distal phalanx of finger, Rib fusion, Kyphoscoliosis, Fused thoracic vertebrae, Micrognathi... ORPHA:97360
Spondyloepimetaphyseal Dysplasia, X-Linked
Cone-shaped epiphyses of the phalanges of the hand, Broad phalanx, Anterior wedging of T11, Platy... OMIM:300106
Antley-Bixler Syndrome
Narrow chest, Joint stiffness, Recurrent fractures, Elbow ankylosis, Craniosynostosis, Arachnodac... ORPHA:83
Lethal Congenital Contracture Syndrome 10
Torticollis, Narrow chest, Thoracic scoliosis, Adducted thumb, Micrognathia, Overlapping fingers,... OMIM:617022
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
Diastasis recti, Coat hanger sign of ribs, Thoracic hypoplasia ORPHA:254534
Short Stature And Facioauriculothoracic Malformations
Pectus excavatum, Short neck, Pectus carinatum, Cervical ribs, Abnormality of the odontoid process OMIM:609654
Osteogenesis Imperfecta, Type Vii
Narrow chest, Coxa vara, Bowing of the legs, Pectus excavatum, Recurrent fractures, Multiple rib ... OMIM:610682
Fibrodysplasia Ossificans Progressiva
Clinodactyly of the 5th finger, Ectopic ossification in tendon tissue, Short 1st metacarpal, Meta... OMIM:135100
Kagami-Ogata Syndrome
Diastasis recti, Kyphoscoliosis, Thin ribs, Long clavicles, Flexion contracture, Micrognathia, Lo... OMIM:608149
Vertebral Hypersegmentation And Orofacial Anomalies
Pectus excavatum, Micrognathia, Six lumbar vertebrae, Joint hypermobility, Supernumerary ribs, Sc... OMIM:619122
Diaphragmatic Hernia 4, With Cardiovascular Defects
Clinodactyly of the 5th finger, 2-3 toe syndactyly, Micrognathia, Diaphragmatic eventration, 11 p... OMIM:620025
Steinfeld Syndrome
Hypoplasia of the radius, Abnormality of the vertebral column, Hypoplasia of the ulna, Phocomelia... OMIM:184705
Infant Acute Respiratory Distress Syndrome
Tachypnea, Abnormal thorax morphology, Pneumonia, Hypoxemia, Respiratory failure, Nasal flaring ORPHA:70587
Cerebrocostomandibular Syndrome
Calcaneal epiphyseal stippling, Clinodactyly of the 5th finger, Rib gap, Anomalous rib insertion ... OMIM:117650
Thrombocytopenia-Absent Radius Syndrome
Aplasia/Hypoplasia of the ulna, Clinodactyly of the 5th finger, Coxa valga, Finger syndactyly, Ad... ORPHA:3320
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Metaphyseal irregularity, Tibial bowing, Subperiosteal bone resorption, Delayed epiphyseal ossifi... OMIM:264700
Laryngotracheal Angioma
Respiratory distress, Apnea, Wheezing, Cough, Intercostal retractions, Stridor ORPHA:137935
Camptodactyly Syndrome, Guadalajara Type 3
Distal shortening of limbs, Small hand, Osteopenia, Short neck, Broad femoral neck, Spina bifida ... ORPHA:488434
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2
Joint stiffness, Brachydactyly, 11 pairs of ribs, Scoliosis, Tracheobronchomalacia, Bicoronal syn... OMIM:619184
Recurrent Respiratory Papillomatosis
Respiratory distress, Tracheomalacia, Nonproductive cough, Respiratory insufficiency, Wheezing, T... ORPHA:60032
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Respiratory distress, Axial muscle stiffness ORPHA:240085
Mitochondrial Complex Iv Deficiency, Nuclear Type 2
Respiratory distress, Death in infancy OMIM:604377
Mucopolysaccharidosis, Type Iiia
Thickened ribs, Joint stiffness, Ovoid thoracolumbar vertebrae, Scoliosis, Dense calvaria OMIM:252900
Acromesomelic Dysplasia 4
Broad phalanx, Prominent sternum, Platyspondyly, Broad finger, Genu valgum, Rhizomelia, Sandal ga... OMIM:619636
Holzgreve Syndrome
Joint stiffness, Abnormal morphology of ulna, Abnormally ossified vertebrae, Abnormal rib morphol... ORPHA:2167
X-Linked Hypophosphatemia
Craniosynostosis, Upper limb metaphyseal widening, Genu valgum, Abnormal epiphysis morphology, Bo... ORPHA:89936
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Abnormal vertebral morphology, Hemivertebrae, 11 pairs of ribs ORPHA:77298
X-Linked Myotubular Myopathy-Abnormal Genitalia Syndrome
Respiratory insufficiency, Thin ribs, Joint hypermobility ORPHA:456328
Tetrasomy 5P
Respiratory distress, Overlapping toe, Clinodactyly of the 5th finger, Pectus excavatum, Microgna... ORPHA:3309
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities
Respiratory distress, Overlapping toe, Flexion contracture, Delayed cranial suture closure, Overl... OMIM:619383
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Femoral bowing, Short neck, 11 pairs of ribs, Micromelia, Platyspondyly, Elbow dislocation, Absen... OMIM:210710
Mucopolysaccharidosis, Type Vi
Prominent sternum, Pectus carinatum, Genu valgum, Broad ribs, Ovoid vertebral bodies, Pneumonia, ... OMIM:253200
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development
Absent thumb, Short femur, Short tibia, Hypoplasia of the ulna, Aplasia/Hypoplasia of the radius,... OMIM:612447
Wolf-Hirschhorn Syndrome
Rib fusion, Preaxial foot polydactyly, Abnormal sternal ossification, Kyphosis, Micrognathia, Pse... OMIM:194190
Severe Acute Respiratory Syndrome
Respiratory distress, Chronic lung disease, Acute infectious pneumonia, Respiratory failure requi... ORPHA:140896
Bardet-Biedl Syndrome 16
Respiratory distress OMIM:615993
Opsismodysplasia
Short neck, Rhizomelia, Severe platyspondyly, Posterior rib cupping, Short long bone, Hypoplastic... OMIM:258480
Multiple Pterygium-Malignant Hyperthermia Syndrome
Kyphosis, Pectus excavatum, Arachnodactyly, Camptodactyly of finger, Prominent metopic ridge, Sco... ORPHA:2215
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Metaphyseal irregularity, Coxa vara, Bowing of the legs, Metaphyseal spurs, Short metacarpal, Nar... ORPHA:85167
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion
Diastasis recti, Overlapping toe, Flexion contracture of finger, Pectus excavatum, Prominent ster... ORPHA:254528
Tbck-Related Intellectual Disability Syndrome
Diastasis recti, Asthma, Pectus excavatum, 2-3 toe syndactyly, Macroglossia, Prominent metopic ri... ORPHA:488632
Schwartz-Jampel Syndrome
Apnea, Pectus excavatum, Abnormally ossified vertebrae, Short neck, Micromelia, Platyspondyly, Pe... ORPHA:800
Mucopolysaccharidosis-Plus Syndrome
Respiratory distress, Pectus excavatum, Macroglossia, Flexion contracture, Flared iliac wing, Met... OMIM:617303
Osteoglophonic Dysplasia
Broad metacarpals, Respiratory distress, Broad phalanx, Craniosynostosis, Short neck, Platyspondy... OMIM:166250
Zttk Syndrome
Rib fusion, Kyphosis, Flexion contracture, Craniosynostosis, Small hand, Hemivertebrae, Scoliosis... OMIM:617140
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Thin ribs, Flexion contracture OMIM:614833
Mucopolysaccharidosis, Type Iiib
Thickened ribs, Joint stiffness, Ovoid thoracolumbar vertebrae, Dense calvaria OMIM:252920
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe
Supraumbilical raphe, Bifid sternum OMIM:140850
Simpson-Golabi-Behmel Syndrome, Type 1
Pectus excavatum, Short sternum, 2-3 finger syndactyly, Pectus carinatum, Diastasis recti, Short ... OMIM:312870
Cryptogenic Organizing Pneumonia
Respiratory distress, Hypoxemia, Nonproductive cough, Crackles, Wheezing, Cough, Restrictive vent... ORPHA:1302
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy
Respiratory distress, Metacarpophalangeal joint contracture, Flexion contracture, Finger joint hy... ORPHA:544503
Anaplastic Thyroid Carcinoma
Respiratory distress, Abnormal skeletal muscle morphology, Cough, Upper airway obstruction, Dyspn... ORPHA:142
Mosaic Trisomy 8
Narrow chest, Vertebral segmentation defect, Clinodactyly of the 5th finger, Micrognathia, Campto... ORPHA:96061
Focal Dermal Hypoplasia
Congenital hip dislocation, Midclavicular aplasia, Diastasis recti, Short ribs, Scoliosis, Short ... OMIM:305600
Cantú Syndrome
Narrow chest, Short distal phalanx of finger, Broad hallux phalanx, Short neck, Platyspondyly, Sh... ORPHA:1517
Avian Influenza
Respiratory distress, Miscarriage, Nonproductive cough, Tachypnea, Cough, Rhabdomyolysis, Pneumot... ORPHA:454836
Multiple Synostoses Syndrome 1
Pectus excavatum, Short sternum, Clinodactyly of the 4th toe, Symphalangism affecting the phalang... OMIM:186500
Yunis-Varon Syndrome
Slender long bones with narrow diaphyses, Absent thumb, Tapered finger, Short proximal phalanx of... ORPHA:3472
Gm1-Gangliosidosis, Type I
Thickened ribs, Joint stiffness, Kyphosis, Hypoplastic vertebral bodies, Beaking of vertebral bod... OMIM:230500
Surfactant Metabolism Dysfunction, Pulmonary, 3
Respiratory distress, Apnea, Hypoxemia, Dyspnea, Neonatal death, Tachypnea, Cough, Death in infan... OMIM:610921
Mucopolysaccharidosis, Type Iiic
Thickened ribs, Joint stiffness, Beaking of vertebral bodies, Kyphoscoliosis, Ovoid thoracolumbar... OMIM:252930
Stuve-Wiedemann Syndrome 1
Enlarged joints, Apnea, Femoral bowing, Short neck, Ulnar deviation of finger, Contracture of the... OMIM:601559
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
Pectus excavatum, Hypoplasia of the musculature, Joint hypermobility, Thin ribs, Abnormal bone os... ORPHA:2463
Hurler Syndrome
Spinal canal stenosis, Abnormal clavicle morphology, Rhinitis, Macroglossia, Camptodactyly of fin... ORPHA:93473
Hereditary Pulmonary Alveolar Proteinosis
Respiratory distress, Crackles, Acute infectious pneumonia, Respiratory failure requiring assiste... ORPHA:264675
Succinic Acidemia
Respiratory distress OMIM:600335
Cervical Ribs, Sprengel Anomaly, Anal Atresia, And Urethral Obstruction
Sprengel anomaly, Thoracolumbar scoliosis, Cervical ribs, Preaxial hand polydactyly OMIM:601389
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence
Narrow chest, Respiratory distress, Tracheomalacia, Micrognathia, Short neck, Syndactyly, Brachyd... OMIM:217980
Combined Oxidative Phosphorylation Deficiency 19
Respiratory distress OMIM:615595
Xylt1-Cdg
Short clavicles, Joint dislocation, Flared metaphysis, Short femoral neck, Broad thumb, Broad rib... ORPHA:370930
Farber Disease
Respiratory distress, Joint swelling, Short toe, Abnormal sternum morphology, Flexion contracture... ORPHA:333
Craniorachischisis
Myelomeningocele, Cervical spina bifida, Congenital diaphragmatic hernia, Anencephaly, Sirenomeli... ORPHA:63260
Eiken Syndrome
Delayed epiphyseal ossification, Long hallux, Delayed tarsal ossification, Delayed ossification o... OMIM:600002
Coenzyme Q10 Deficiency, Primary, 8
Respiratory distress, Left ventricular hypertrophy, Flexion contracture OMIM:616733
Humerofemoral Hypoplasia With Radiotibial Ray Deficiency
Short clavicles, Congenital diaphragmatic hernia, Absent thumb, Hypoplastic pelvis, Hypoplastic s... OMIM:618022
Nestor-Guillermo Progeria Syndrome
Joint stiffness, Microretrognathia, Thin ribs, Flexion contracture, Micrognathia, Wide cranial su... OMIM:614008
Trisomy 1Q
Microretrognathia, Congenital diaphragmatic hernia, Arachnodactyly, Camptodactyly of finger, Abno... ORPHA:261344
Episodic Ataxia Type 1
Respiratory distress, Calf muscle hypertrophy, Kyphoscoliosis, Scoliosis ORPHA:37612
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Respiratory distress, Abnormal mucociliary clearance, Bronchiectasis OMIM:619466
Respiratory Distress Syndrome In Premature Infants
Respiratory distress, Dyspnea, Neonatal respiratory distress, Tachypnea OMIM:267450
Ear-Patella-Short Stature Syndrome
Respiratory distress, Clinodactyly of the 5th finger, Craniosynostosis, Micrognathia, Camptodacty... ORPHA:2554
Craniofaciofrontodigital Syndrome
Respiratory distress, Macroglossia, Finger joint hypermobility, Osteopenia, Scoliosis, Osteoporos... ORPHA:363705
Sclerosteosis 1
Cortically dense long tubular bones, 2-3 finger syndactyly, Syndactyly, Broad clavicles, Deviatio... OMIM:269500
Otopalatodigital Syndrome Type 2
Narrow chest, Carpal synostosis, Increased bone mineral density, Flared iliac wing, Abnormal vert... ORPHA:90652
Fibrous Dysplasia Of Bone
Abnormality of femur morphology, Abnormal clavicle morphology, Abnormality of the humerus, Thin b... ORPHA:249
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Micrognathia, Tachypnea, Bell-shaped thorax, Horizontal ribs, Pulmonary arterial hypertension OMIM:614857
Pulmonary Non-Tuberculous Mycobacterial Infection
Respiratory distress, Chronic pulmonary obstruction, Crackles, Cough, Pneumothorax, Pleural effus... ORPHA:411703
Laryngomalacia
Respiratory distress, Congenital laryngeal stridor OMIM:150280
Shprintzen-Goldberg Craniosynostosis Syndrome
Pectus excavatum, Craniosynostosis, Osteopenia, Pectus carinatum, Genu valgum, Genu recurvatum, M... OMIM:182212
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Narrow chest, Short ribs, Micrognathia, Respiratory insufficiency, Micromelia, Abnormal pelvis bo... ORPHA:93271
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities
Micrognathia, Respiratory insufficiency, Syndactyly, Neonatal death, Hypoplasia of the ulna, Meso... OMIM:228940
Leopard Syndrome 1
Kyphoscoliosis, Pectus excavatum, Short neck, Pectus carinatum, Limited elbow movement, Spina bif... OMIM:151100
Hypocalcemic Vitamin D-Dependent Rickets
Delayed epiphyseal ossification, Tibial bowing, Subperiosteal bone resorption, Sparse bone trabec... ORPHA:289157
Vacterl/Vater Association
Vertebral segmentation defect, Congenital diaphragmatic hernia, Finger syndactyly, Abnormal rib m... ORPHA:887
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B
Antecubital pterygium, Flexion contracture, Fused thoracic vertebrae, Short neck, Scoliosis, Fuse... OMIM:618469
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Respiratory distress, Delayed epiphyseal ossification, Macroglossia, Absent ossification of capit... ORPHA:226313
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome
Brachydactyly, Scoliosis, Fused cervical vertebrae, Short middle phalanx of finger, Abnormal sacr... ORPHA:1436
Surfactant Metabolism Dysfunction, Pulmonary, 2
Respiratory distress, Hypoxemia, Respiratory insufficiency, Interstitial pneumonitis, Reduced for... OMIM:610913
Kagami-Ogata Syndrome
Diastasis recti, Kyphoscoliosis, Limitation of joint mobility, Coat hanger sign of ribs, Microgna... ORPHA:254519
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Diastasis recti, Butterfly vertebrae, Right ventricular hypertrophy, Micrognathia, Posterior rib ... OMIM:265380
Cartilage-Hair Hypoplasia
Narrow chest, Coxa vara, Metaphyseal dysplasia, Metaphyseal cupping, Prominent sternum, Asymmetry... OMIM:250250
Chronic Pneumonitis Of Infancy
Respiratory distress, Reduced forced vital capacity, Cough, Intercostal retractions, Tachypnea, H... ORPHA:91359
Occipital Horn Syndrome
Narrow chest, Kyphosis, Short clavicles, Pectus excavatum, Coxa valga, Short humerus, Platyspondy... OMIM:304150
Autosomal Dominant Popliteal Pterygium Syndrome
Joint stiffness, Micrognathia, Popliteal pterygium, Scoliosis, Abnormal rib morphology, Split han... ORPHA:1300
Stüve-Wiedemann Syndrome
Respiratory distress, Apnea, Flexion contracture of finger, Osteopenia, Micromelia, Genu valgum, ... ORPHA:3206
Wiedemann-Steiner Syndrome
Clinodactyly of the 5th finger, Pectus excavatum, Tapered finger, Rhizomelia, Aplasia/Hypoplasia ... ORPHA:319182
Interstitial Pneumonitis, Desquamative, Familial
Respiratory distress, Respiratory failure, Cough, Tachypnea OMIM:263000
Craniofaciofrontodigital Syndrome
Pectus excavatum, Hypoplastic vertebral bodies, Short neck, Hypoplastic pelvis, Cubitus valgus, B... OMIM:114620
Staphylococcal Necrotizing Pneumonia
Respiratory distress, Nonproductive cough, Pleural empyema, Acute infectious pneumonia, Tachypnea... ORPHA:36238
Trisomy 13
Narrow chest, Ectrodactyly, Kyphosis, Scoliosis, Postaxial hand polydactyly, Abnormal rib morphol... ORPHA:3378
Multiple Carboxylase Deficiency
Respiratory distress, Limb muscle weakness, Tachypnea ORPHA:148
Alagille Syndrome
Short distal phalanx of finger, Vertebral segmentation defect, Clinodactyly of the 5th finger, Mi... ORPHA:52
Malaria
Respiratory distress ORPHA:673
Lissencephaly Syndrome, Norman-Roberts Type
Respiratory distress, Adducted thumb, Microretrognathia, Rocker bottom foot ORPHA:89844
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy
Respiratory distress, Micrognathia, Osteopenia, Scoliosis, Contractures of the large joints ORPHA:329178
Tibia, Absence Or Hypoplasia Of, With Polydactyly, Retrocerebellar Arachnoid Cyst, And Other Anomalies
Radial bowing, Aplasia/Hypoplasia of the tibia, Abnormal thorax morphology, Postaxial foot polyda... OMIM:601027
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Pectus excavatum, Craniosynostosis, Hypoplasia of the radius, Short neck, Hypoplasia of the ulna,... OMIM:609945
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Unilateral chest hypoplasia, Abnormality of the vertebral column, Scoliosis, Abnormal rib morphol... OMIM:308205
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Vertebral segmentation defect, Hypoplasia of the radius, Abnormality of the humerus, Hypoplasia o... ORPHA:3186
Gaucher Disease, Perinatal Lethal
Respiratory distress, Apnea, Micrognathia, Neonatal death, Arthrogryposis multiplex congenita, Th... OMIM:608013
Osteogenesis Imperfecta
Abnormality of femur morphology, Pectus excavatum, Femoral bowing, Osteopenia, Micromelia, Biconc... ORPHA:666
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Prominent sternum, Elbow ankylosis, Hypoplasia of the radius, Femoral bowing, Barrel-shaped chest... OMIM:276820
Pallister-Hall Syndrome
Hemivertebrae, Radial head subluxation, Polydactyly affecting the 4th finger, Polydactyly affecti... ORPHA:672
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Rib fusion, Kyphoscoliosis, Lumbar hyperlordosis, Absent thumb, Arachnodactyly, Hemivertebrae, Sl... ORPHA:500150
Congenital Lobar Emphysema
Respiratory distress, Emphysema ORPHA:1928
Jacobsen Syndrome
Clinodactyly of the 5th finger, Pectus excavatum, Flexion contracture, Micrognathia, Short neck, ... OMIM:147791
Triosephosphate Isomerase Deficiency
Respiratory distress, Kyphosis, Respiratory insufficiency due to muscle weakness, Respiratory ins... OMIM:615512
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Respiratory distress, Joint stiffness, Airway obstruction, Lumbar hyperlordosis, Macroglossia, Fl... ORPHA:505248
Mitochondrial Pyruvate Carrier Deficiency
Respiratory distress OMIM:614741
Familial Nasal Acilia
Respiratory distress, Chronic rhinitis, Chronic sinusitis, Bronchiectasis, Dyspnea ORPHA:922
Gracile Bone Dysplasia
Thin ribs, Flared metaphysis, Brachydactyly, Slender long bone, Decreased skull ossification OMIM:602361
Gm1 Gangliosidosis Type 1
Broad metacarpals, Flattened femoral head, Hypoplastic vertebral bodies, Flared iliac wing, Macro... ORPHA:79255
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis
Respiratory distress, Micrognathia, Congenital diaphragmatic hernia OMIM:606164
Diamond-Blackfan Anemia 1
Narrow chest, Absent thumb, Hypoplastic coccygeal vertebrae, Hypoplasia of the radius, Hypoplasti... OMIM:105650
Congenital Pulmonary Lymphangiectasia
Respiratory distress, Chronic pulmonary obstruction, Cough, Pleural effusion, Pulmonary arterial ... ORPHA:2414
Myhre Syndrome
Joint stiffness, Large iliac wing, Skeletal muscle hypertrophy, Abnormality of the pubic bone, Br... ORPHA:2588
Pseudotrisomy 13 Syndrome
2-3 toe syndactyly, Hemivertebrae, 11 pairs of ribs, Postaxial hand polydactyly, Postaxial foot p... OMIM:264480
Frontometaphyseal Dysplasia
Limitation of movement at ankles, Craniosynostosis, Limitation of knee mobility, Progressive bowi... ORPHA:1826
6Q Terminal Deletion Syndrome
Micrognathia, Prominent metopic ridge, Short neck, Scoliosis, Aplasia/Hypoplasia of the ribs, Hal... ORPHA:75857
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Acute respiratory distress syndrome, Craniosynostosis, Small hand, Delayed cranial suture closure... OMIM:620005
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Respiratory distress, Abnormal muscle glycogen content, Flexion contracture, Respiratory insuffic... ORPHA:367
Osteopetrosis, Autosomal Recessive 7
Multiple rib fractures, Osteopetrosis, Death in childhood, Abnormal trabecular bone morphology, D... OMIM:612301
Pseudo-Torch Syndrome 2
Pleural effusion, Respiratory insufficiency, Acute respiratory distress syndrome, Thin ribs OMIM:617397
Mogs-Cdg
Respiratory distress, Apnea, Thoracic scoliosis, Left ventricular hypertrophy, Overlapping finger... ORPHA:79330
Acute Lung Injury
Respiratory distress, Tachypnea, Pneumonia, Hypoxemia, Dyspnea, Respiratory failure ORPHA:178320
Mucopolysaccharidosis, Type Iiid
Thickened ribs, Epiphyseal dysplasia, Joint stiffness, Thoracic scoliosis, Hypoplastic vertebral ... OMIM:252940
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Respiratory distress, Apnea, Aspiration pneumonia, Micrognathia, Prominent metopic ridge, Polydac... ORPHA:314655
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria
Respiratory distress, Multiple joint contractures, Broad carpal bones, Short neck, Metaphyseal ch... ORPHA:99646
Meconium Aspiration Syndrome