Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
myogenin
Synonyms:
myo,  bHLHc3

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 Myog mutations

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

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

No human diseases associated to this gene by orthology or annotation.

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Lethal Congenital Contracture Syndrome 1
Skeletal muscle atrophy, Widening of cervical spinal canal, Abnormal thorax morphology, Micrognat... OMIM:253310
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Lethal Congenital Contracture Syndrome 3
Neonatal death, Multiple joint contractures, Arthrogryposis multiplex congenita, Skeletal muscle ... OMIM:611369
Metatropic Dysplasia
Cupped ribs, Flared humeral metaphysis, Abnormal metaphyseal vascular invasion, Flared femoral me... OMIM:156530
Muscular Hypoplasia, Congenital Universal, Of Krabbe
Abnormal muscle fiber morphology, Hypoplasia of the musculature OMIM:159100
Arthrogryposis, Distal, With Mental Retardation And Characteristic Facies
Distal arthrogryposis, Respiratory failure, Respiratory insufficiency, Arthrogryposis multiplex c... OMIM:208081
Sprengel Deformity
Shoulder muscle hypoplasia, Scoliosis, Neck muscle hypoplasia, Sprengel anomaly, Spina bifida occ... OMIM:184400
Poland Syndrome
Hypoplasia of serratus anterior muscle, Absence of pectoralis minor muscle, Unilateral absence of... OMIM:173800
Sprengel Deformity
Shoulder muscle hypoplasia, Short neck, Abnormality of the shoulder girdle musculature, Torticoll... ORPHA:3181
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability
Hand muscle atrophy, Atlantoaxial instability, Os odontoideum, Joint laxity, Spondylolysis, Respi... OMIM:600561
Infantile-Onset X-Linked Spinal Muscular Atrophy
Cupped ribs, Inflammatory myopathy, Skeletal muscle atrophy, Short ribs, Spinal muscular atrophy,... ORPHA:1145
Spinal Muscular Atrophy, Type I
Proximal muscle weakness in lower limbs, Respiratory failure, Proximal amyotrophy, Death in child... OMIM:253300
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A
Abnormal respiratory system physiology, Foot dorsiflexor weakness, Facial hypotonia, Hip flexor w... ORPHA:266
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia
Genu varum, Metaphyseal irregularity, Flexion contracture, Short neck, Short ribs, Delayed pubic ... OMIM:613330
Thanatophoric Dysplasia, Type Ii
Brachydactyly, Metaphyseal irregularity, Short greater sciatic notch, Short ribs, Wide-cupped cos... OMIM:187601
Parastremmatic Dwarfism
Short neck, Flexion contracture, Kyphosis, Scoliosis, Genu valgum OMIM:168400
Muscular Dystrophy, Congenital, 1B
Achilles tendon contracture, Congenital muscular dystrophy, Generalized muscle hypertrophy, Respi... OMIM:604801
Hernia, Anterior Diaphragmatic
Neonatal death, Congenital diaphragmatic hernia OMIM:306950
Axial Spondylometaphyseal Dysplasia
Cupped ribs, Acromesomelia, Abnormal ilium morphology, Delayed ossification of carpal bones, Apla... ORPHA:168549
Congenital Muscular Dystrophy, Ullrich Type
Increased variability in muscle fiber diameter, Micrognathia, Scoliosis, Hip dislocation, Slender... ORPHA:75840
Scapuloperoneal Spinal Muscular Atrophy
Clinodactyly, Kyphosis, Muscle fiber splitting, Scapuloperoneal amyotrophy, Peroneal muscle atrop... OMIM:181405
Dysosteosclerosis
Narrow iliac wing, Absent paranasal sinuses, Hypoplastic vertebral bodies, Sclerosis of hand bone... OMIM:224300
Bone Dysplasia, Lethal, Holmgren Type
Short ribs, Narrow chest, Bell-shaped thorax, Respiratory insufficiency OMIM:211120
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Flexion contracture, Kyphosis, Skeletal muscle atrophy, Overlapping fingers, Respiratory failure,... OMIM:618291
Epidermolysis Bullosa With Diaphragmatic Hernia
Neonatal death, Congenital diaphragmatic hernia OMIM:226735
Sternum, Premature Obliteration Of Sutures Of
Premature sternal synostosis, Micrognathia, Short sternum OMIM:184800
Nemaline Myopathy 9
Respiratory insufficiency, Micrognathia, Scoliosis, Arthrogryposis multiplex congenita, Narrow chest OMIM:615731
Spondylometaphyseal Dysplasia, X-Linked
Kyphosis, Tapered finger, Respiratory failure, Sclerosis of skull base, Platyspondyly, Knee flexi... OMIM:313420
Thoracomelic Dysplasia
Abnormality of pelvic girdle bone morphology, Short neck, Short ribs, Abnormality of fibula morph... ORPHA:1803
Spondylometaphyseal Dysplasia With Corneal Dystrophy
Brachydactyly, Lumbar platyspondyly, Short ribs, Thoracic platyspondyly, Neonatal respiratory dis... OMIM:618961
Ophthalmoplegia, External, With Rib And Vertebral Anomalies
Missing ribs, Short ribs, Pseudoarthrosis, Pectus excavatum, Scoliosis, Torticollis OMIM:618155
Achondrogenesis, Type Ib
Absent or minimally ossified vertebral bodies, Short ribs, Respiratory insufficiency, Micromelia,... OMIM:600972
Kyphomelic Dysplasia
Bowing of the long bones, Anterior rib cupping, Missing ribs, Short thorax, Joint stiffness, Abno... ORPHA:1801
Neurologic Disease, Infantile Multisystem, With Osseous Fragility
Recurrent fractures, Skeletal muscle atrophy, Osteoporosis, Hip subluxation, Hip dislocation OMIM:256720
Congenital Arthrogryposis With Anterior Horn Cell Disease
Dystonia, Short neck, Kyphosis, Skeletal muscle atrophy, Rocker bottom foot, Respiratory failure,... OMIM:611890
Scheuermann Disease
Kyphosis, Morbus Scheuermann OMIM:181440
Acrocapitofemoral Dysplasia
Cupped ribs, Genu varum, Small finger, Delayed ossification of carpal bones, Cone-shaped metacarp... OMIM:607778
Brachyolmia Type 1, Hobaek Type
Kyphosis, Short neck, Short femoral neck, Intervertebral space narrowing, Back pain, Sclerotic fo... OMIM:271530
Chondrodysplasia, Blomstrand Type
Advanced ossification of carpal bones, Accelerated skeletal maturation, Advanced tarsal ossificat... OMIM:215045
Schneckenbecken Dysplasia
Brachydactyly, Advanced ossification of carpal bones, Metaphyseal irregularity, Anterior rib cupp... OMIM:269250
Thanatophoric Dysplasia, Type I
Bowing of the long bones, Metaphyseal irregularity, Short greater sciatic notch, Short ribs, Wide... OMIM:187600
Familial Scheuermann Disease
Kyphosis, Abnormal form of the vertebral bodies ORPHA:3135
Spondyloepimetaphyseal Dysplasia With Joint Laxity
Abnormality of epiphysis morphology, Dislocated radial head, Joint laxity, Beaking of vertebral b... ORPHA:93359
Achondrogenesis Type 2
Delayed proximal femoral epiphyseal ossification, Short ribs, Delayed pubic bone ossification, De... ORPHA:93296
Spondyloepimetaphyseal Dysplasia, Shohat Type
Genu varum, Metaphyseal irregularity, Vertebral hypoplasia, Short neck, Short femoral neck, Short... OMIM:602557
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 21
Respiratory insufficiency, Scapular winging, Proximal muscle weakness in lower limbs OMIM:617232
Lethal Congenital Contracture Syndrome 4
Distal arthrogryposis, Flexion contracture, Multiple joint contractures, Skeletal muscle atrophy,... OMIM:614915
Myopathy, Areflexia, Respiratory Distress, And Dysphagia, Early-Onset
Restrictive ventilatory defect, Muscle fiber necrosis, Respiratory failure, Increased variability... OMIM:614399
Bruck Syndrome 1
Kyphosis, Joint laxity, Vertebral wedging, Increased susceptibility to fractures, Osteoporosis, A... OMIM:259450
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
Small hypothenar eminence, Osteopenia, Mucosal telangiectasiae, Thin ribs, Lumbar hemivertebrae, ... ORPHA:2463
Thoracopelvic Dysostosis
Short ribs, Neonatal respiratory distress OMIM:187770
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B
Respiratory insufficiency due to muscle weakness, Foot dorsiflexor weakness, Kyphosis, Scoliosis OMIM:617087
Osteogenesis Imperfecta, Type Ix
Decreased calvarial ossification, Kyphosis, Recurrent fractures, Multiple prenatal fractures, Pla... OMIM:259440
Pontocerebellar Hypoplasia, Type 1C
Flexion contracture, Skeletal muscle atrophy, Respiratory failure, Respiratory insufficiency, Spi... OMIM:616081
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Hypoplastic ischia, Hypoplastic pubic bone, Short neck, Short ribs, Thin ribs, Decreased cranial ... OMIM:151210
Marinesco-Sjögren Syndrome
Brachydactyly, Coxa valga, Short palm, Metatarsus valgus, Abnormality of finger, Skeletal muscle ... ORPHA:559
Digital Extensor Muscle Aplasia-Polyneuropathy
Aplasia/Hypoplasia involving the skeletal musculature, Camptodactyly of finger, Muscular dystroph... ORPHA:2926
Intermediate Nemaline Myopathy
Nemaline bodies, Flexion contracture, Multiple prenatal fractures, Skeletal muscle atrophy, Respi... ORPHA:171433
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Respiratory failure requiring assisted ventilation, Lower limb muscle weakness, Respiratory failu... ORPHA:90117
Mental Retardation, X-Linked 82
Scoliosis, Kyphosis OMIM:300518
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Finger syndactyly, Clinodactyly of the 5th finger, Abnormal rib morphology, Radioulnar synostosis... ORPHA:3268
Congenital Patella Dislocation
Aplasia/Hypoplasia of the quadriceps, Genu valgum, Limited knee extension, Knee flexion contracture ORPHA:295036
Postsynaptic Congenital Myasthenic Syndromes
Cyanosis, Weakness of the intrinsic hand muscles, Thoracic kyphoscoliosis, Restrictive ventilator... ORPHA:98913
Bethlem Myopathy 2
Flexion contracture, Kyphosis, Increased variability in muscle fiber diameter, Distal joint laxit... OMIM:616471
Thoracolaryngopelvic Dysplasia
Horizontal ribs, Short ribs, Irregular chondrocostal junctions, Irregular vertebral endplates, Hy... OMIM:187760
Congenital Fiber-Type Disproportion Myopathy
Hypoxemia, Micrognathia, Scoliosis, Intercostal muscle weakness, Flexion contracture, Type 1 musc... ORPHA:2020
Myopathy, X-Linked, With Postural Muscle Atrophy
Scapular winging, Flexion contracture, Short neck, Back pain, Spinal rigidity, Respiratory insuff... OMIM:300696
Congenital Muscular Dystrophy With Intellectual Disability
Multiple joint contractures, Abnormality of the tongue muscle, Reduced muscle fiber alpha dystrog... ORPHA:370968
Three M Syndrome 1
Short neck, Short thorax, Increased vertebral height, Short ribs, Clinodactyly of the 5th finger,... OMIM:273750
Thoracic Dysostosis, Isolated
Short ribs, Bell-shaped thorax, Pectus excavatum OMIM:187750
Minicore Myopathy With External Ophthalmoplegia
Minicore myopathy, Nemaline bodies, Skeletal muscle atrophy, Type 1 and type 2 muscle fiber minic... OMIM:255320
Nemaline Myopathy 1
Nemaline bodies, Flexion contracture, Shoulder girdle muscle atrophy, EMG: myopathic abnormalitie... OMIM:609284
Congenital Diaphragmatic Hernia
Hypoxemia, Congenital diaphragmatic hernia, Aplasia/Hypoplasia of the diaphragm, Respiratory dist... ORPHA:2140
Nemaline Myopathy 8
Nemaline bodies, Flexion contracture, Respiratory failure, Facial palsy, Death in infancy, Myofib... OMIM:615348
Neuronopathy, Distal Hereditary Motor, Type Viii
Kyphosis, Proximal lower limb amyotrophy, Hyperlordosis, Knee flexion contracture, Scoliosis, Hip... OMIM:600175
Bone Dysplasia, Lethal Holmgren Type
Abnormal thumb morphology, Short neck, Abnormality of epiphysis morphology, Hernia, Short ribs, R... ORPHA:1842
Myopathy, Myofibrillar, 9, With Early Respiratory Failure
Achilles tendon contracture, Pelvic girdle muscle weakness, Foot dorsiflexor weakness, Myofibrill... OMIM:603689
Corneal Dystrophy, Fuchs Endothelial, 3
Edema OMIM:613267
Achondrogenesis, Type Ia
Hypoplastic ischia, Short neck, Short ribs, Hypoplastic scapulae, Decreased skull ossification, H... OMIM:200600
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related
Flexion contracture, Respiratory failure, Muscular dystrophy, Respiratory insufficiency, Apnea OMIM:613869
Thoracomelic Dysplasia
Short ribs, Bell-shaped thorax OMIM:273740
Fibrochondrogenesis 1
Fibular hypoplasia, Posterior vertebral hypoplasia, Clinodactyly of the 5th finger, Small hand, B... OMIM:228520
Gnathodiaphyseal Dysplasia
Bowing of the long bones, Osteopenia, Recurrent fractures, Thickened cortex of long bones, Mandib... ORPHA:53697
Nemaline Myopathy 5
Decreased hip abduction, Nemaline bodies, Z-band streaming, Proximal amyotrophy, Type 1 muscle fi... OMIM:605355
Fibrochondrogenesis 2
Hypoplastic ischia, Hypoplastic pubic bone, Metaphyseal widening, Short ribs, Metaphyseal cupping... OMIM:614524
Fibrochondrogenesis
Brachydactyly, Short neck, Camptodactyly of finger, Abnormal form of the vertebral bodies, Short ... ORPHA:2021
Cooper-Jabs Syndrome
Abnormal hip bone morphology, Missing ribs, Umbilical hernia, Respiratory insufficiency, Abnormal... ORPHA:1488
Rigid Spine Syndrome
Pneumonia, Abnormality on pulmonary function testing, Skeletal muscle atrophy, Hyperlordosis, Res... ORPHA:97244
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Brachydactyly, Horizontal ribs, Short ribs, Lateral clavicle hook, Respiratory failure, Hypoplasi... OMIM:617895
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Hypoplastic ischia, Short neck, Short ribs, Severe platyspondyly, Dysplastic sacrum, Squared ilia... OMIM:613320
Endosteal Hyperostosis, Worth Type
Clavicular sclerosis, Abnormal form of the vertebral bodies, Craniofacial hyperostosis, Sclerotic... ORPHA:2790
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1
Bruising susceptibility, Premature osteoarthritis, Osteopenia, Kyphosis, Joint laxity, Increased ... OMIM:130060
Hyperekplexia 4
Distal arthrogryposis, Flexion contracture, Respiratory failure, Inguinal hernia, Adducted thumb,... OMIM:618011
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Flexion contracture, Skeletal muscle atrophy, Increased variability in muscle fiber diameter, Res... OMIM:616867
Acromesomelic Dysplasia, Maroteaux Type
Brachydactyly, Acromesomelia, Bowing of the long bones, Ovoid vertebral bodies, Kyphosis, Abnorma... ORPHA:40
Hyperparathyroidism, Transient Neonatal
Osteopenia, Short ribs, Thin ribs, Respiratory distress, Narrow chest, Femoral bowing OMIM:618188
Scarf Syndrome
Craniosynostosis, Short neck, Abnormal form of the vertebral bodies, Diastasis recti, Short stern... ORPHA:3134
Neurogenic Thoracic Outlet Syndrome
Abnormal rib morphology ORPHA:100073
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Short neck, Flexion contracture, Kyphosis, Increased variability in muscle fiber diameter, Hyperl... OMIM:300718
Lethal Congenital Contracture Syndrome Type 1
Abnormal hip bone morphology, Short neck, Recurrent fractures, Abnormal form of the vertebral bod... ORPHA:1486
Osteogenesis Imperfecta, Type Xix
Osteopenia, Recurrent fractures, Rhizomelia, Vertebral wedging, Pectus excavatum, Scoliosis, Pect... OMIM:301014
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Flexion contracture, Osteopenia, Multiple prenatal fractures, Short neck, Short ribs, Decreased f... OMIM:616897
Neuralgic Amyotrophy
Acrocyanosis, Scapular winging, Sprengel anomaly, Respiratory insufficiency ORPHA:2901
Thoracic Dysplasia-Hydrocephalus Syndrome
Short ribs, Thoracic dysplasia, Respiratory failure, Respiratory insufficiency, Limb undergrowth,... OMIM:273730
Metatropic Dysplasia
Joint stiffness, Camptodactyly of finger, Abnormal enchondral ossification, Kyphosis, Abnormal fo... ORPHA:2635
Spastic Paraplegia 18, Autosomal Recessive
Lower limb muscle weakness, Scoliosis, Kyphosis, Skeletal muscle atrophy OMIM:611225
Hypophosphatasia, Infantile
Apnea, Bowing of the legs, Decreased calvarial ossification, Craniosynostosis, Vertebral clefting... OMIM:241500
Macroepiphyseal Dysplasia With Osteoporosis, Wrinkled Skin, And Aged Appearance
Recurrent fractures, Prematurely aged appearance, Joint laxity, Osteoporosis, Reduced subcutaneou... OMIM:248010
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita
Clinodactyly, Minicore myopathy, Flexion contracture, Short neck, Kyphosis, Increased endomysial ... ORPHA:178148
Myasthenic Syndrome, Congenital, 25, Presynaptic
Flexion contracture, Kyphosis, Generalized amyotrophy, Joint hypermobility, Scoliosis, Myopathy, ... OMIM:618323
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Recurrent pneumonia, Skeletal muscle atrophy, Respiratory failure, Respiratory insufficiency due ... ORPHA:254875
Severe Congenital Nemaline Myopathy
Nemaline bodies, Flexion contracture, Multiple prenatal fractures, Skeletal muscle atrophy, Abnor... ORPHA:171430
Diaphanospondylodysostosis
Missing ribs, Absent or minimally ossified vertebral bodies, Short thorax, Short neck, Narrow pel... ORPHA:66637
Spondylocostal Dysostosis 4, Autosomal Recessive
Missing ribs, Block vertebrae, Short thorax, Restrictive ventilatory defect, Abnormal rib morphol... OMIM:613686
Atelosteogenesis, Type Ii
Coronal cleft vertebrae, Cervical kyphosis, Short neck, Platyspondyly, Horizontal sacrum, Lumbar ... OMIM:256050
Spondylocostal Dysostosis 3, Autosomal Recessive
Slender finger, Kyphosis, Hypoplasia of the odontoid process, Supernumerary vertebral ossificatio... OMIM:609813
Multiple Synostoses Syndrome 1
Carpal synostosis, Clinodactyly of the 5th finger, Absent distal phalanges, Spinal canal stenosis... OMIM:186500
Achondrogenesis, Type Ii
Horizontal ribs, Short ribs, Barrel-shaped chest, Hypoplastic iliac wing, Short long bone, Broad ... OMIM:200610
Frontometaphyseal Dysplasia
Limitation of knee mobility, Micrognathia, Scoliosis, Metaphyseal widening, Short diaphyses, Shou... ORPHA:1826
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type
Flat capital femoral epiphysis, Genu varum, Thoracic kyphosis, Intervertebral space narrowing, Br... OMIM:609223
Heart Defects-Limb Shortening Syndrome
Accelerated skeletal maturation, Kyphosis, Abnormal form of the vertebral bodies, Abnormal rib mo... ORPHA:1354
Charcot-Marie-Tooth Disease-Deafness-Intellectual Disability Syndrome
Lower limb amyotrophy, Distal lower limb muscle weakness, Amyotrophy of ankle musculature, Foot d... ORPHA:90103
Spinal Muscular Atrophy, Infantile, James Type
Lower limb muscle weakness, Increased variability in muscle fiber diameter, Type 1 muscle fiber p... OMIM:619042
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies
Kyphosis, Clinodactyly of the 5th finger, Short thumb, Camptodactyly, Overlapping toe OMIM:618453
Monosomy 5P
Finger syndactyly, Recurrent fractures, Short neck, Inguinal hernia, Scoliosis, Microretrognathia... ORPHA:281
Greenberg Dysplasia
Multiple prenatal fractures, Hypoplastic vertebral bodies, 11 pairs of ribs, Decreased skull ossi... OMIM:215140
Pulmonary Hypoplasia, Primary
Neonatal death, Pulmonary hypoplasia OMIM:265430
Fetal Akinesia Deformation Sequence 4
Flexion contracture, Short neck, Kyphosis, Skeletal muscle atrophy, Rocker bottom foot, Micrognat... OMIM:618393
Metaphyseal Dysostosis, Mental Retardation, And Conductive Deafness
Cupped ribs, Narrow iliac wing, Genu varum, Scoliosis, Metaphyseal widening, Genu valgum, Brachyd... OMIM:250420
Nemaline Myopathy 4
Nemaline bodies, Scapular winging, Flexion contracture, Skeletal muscle atrophy, Limb muscle weak... OMIM:609285
Poland Syndrome
Aplasia/Hypoplasia of the sternum, Abnormality of the ulna, Missing ribs, Finger symphalangism, A... ORPHA:2911
Congenital Muscular Dystrophy Due To Lmna Mutation
Flexion contracture, Skeletal muscle atrophy, Hyperlordosis, Respiratory insufficiency, Myopathy,... ORPHA:157973
Hereditary Motor And Sensory Neuropathy, Type Iic
Hand muscle atrophy, Foot dorsiflexor weakness, Hammertoe, Shoulder girdle muscle atrophy, Respir... OMIM:606071
Renal Dysplasia-Limb Defects Syndrome
Short neck, Phocomelia, Short sternum, Short ribs, Thin ribs, Short metacarpal, Respiratory failu... OMIM:266910
Scarf Syndrome
Lambdoidal craniosynostosis, Short neck, Abnormal form of the vertebral bodies, Coronal craniosyn... OMIM:312830
Autosomal Dominant Brachyolmia
Short thorax, Increased vertebral height, Platyspondyly, Abnormality of the metaphysis, Kyphoscol... ORPHA:93304
Arthrogryposis Multiplex Congenita 6
Nemaline bodies, Increased variability in muscle fiber diameter, Respiratory failure, Death in ch... OMIM:619334
Oculopharyngeal Myopathy With Leukoencephalopathy 1
Respiratory failure, Tremor, Weakness of facial musculature OMIM:618637
Spondylocostal Dysostosis 5
Butterfly vertebrae, Missing ribs, Supernumerary ribs, Short neck, Posterior rib fusion, Scoliosi... OMIM:122600
Distal Myopathy, Tateyama Type
Weakness of the intrinsic hand muscles, Intrinsic hand muscle atrophy, Increased variability in m... ORPHA:488650
Cleidocranial Dysplasia
Absent paranasal sinuses, Micrognathia, Short middle phalanx of the 2nd finger, Hypoplastic iliac... OMIM:119600
Cholesterol Pneumonia
Cyanosis, Pneumonia, Tachypnea, Cough, Death in infancy OMIM:215030
Atelosteogenesis Type Ii
Cervical kyphosis, Sandal gap, Rhizomelic arm shortening, Micrognathia, Micromelia, Tibial torsio... ORPHA:56304
Rhizomelic Dysplasia, Scoliosis, And Retinitis Pigmentosa
Amelogenesis imperfecta, Prominent deltoid tuberosities, Short neck, Short femoral neck, Short ri... OMIM:610319
Congenital Multicore Myopathy With External Ophthalmoplegia
Abnormal respiratory system physiology, Abnormal skeletal muscle morphology, Increased variabilit... ORPHA:98905
Multiple Pterygium Syndrome, X-Linked
Flexion contracture, Thin ribs, Increased susceptibility to fractures, Micrognathia, Abnormal cer... OMIM:312150
Primary Pulmonary Hypoplasia
Cyanosis, Restrictive ventilatory defect, Hypoxemia, Asthma, Abnormal breath sound, Neonatal resp... ORPHA:2257
Spinal muscular atrophy, type I, with congenital bone fractures
Flexion contracture, Osteopenia, Multiple prenatal fractures, Rocker bottom foot, Acute infantile... OMIM:271225
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type
Micrognathia, Micromelia, Scoliosis, Broad long bones, Bowing of the legs, Recurrent pneumonia, S... OMIM:271665
Myopathy, Myofibrillar, 5
Respiratory insufficiency, Muscle fiber cytoplasmatic inclusion bodies, Myofibrillar myopathy, Mu... OMIM:609524
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Lower limb muscle weakness, Respiratory failure, Respiratory insufficiency due to muscle weakness... ORPHA:2590
Solitary Bone Cyst
Abnormal ilium morphology, Abnormality of the medullary cavity of the long bones, Abnormal form o... ORPHA:83468
Otopalatodigital Syndrome, Type Ii
Short thumb, Micrognathia, Bulbous tips of toes, Narrow chest, Irregular metacarpals, Short ribs,... OMIM:304120
Osteogenesis Imperfecta, Type Ii
Abnormality of pelvic girdle bone morphology, Recurrent fractures, Multiple prenatal fractures, T... OMIM:166210
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Abnormality of the vertebral column, Abnormality of long bone morphology, Generalized amyotrophy,... ORPHA:52430
Surfactant Metabolism Dysfunction, Pulmonary, 3
Hypoxemia, Tachypnea, Death in infancy, Nodular pattern on pulmonary HRCT, Crazy paving pattern, ... OMIM:610921
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities
Unilateral wrist flexion contracture, Arthrogryposis multiplex congenita, Pulmonary hypoplasia, K... OMIM:616531
Spondylometaphyseal Dysplasia, Type A4
Brachydactyly, Enlargement of the costochondral junction, Metaphyseal irregularity, Coxa valga, M... OMIM:609052
Asbestos Intoxication
Cyanosis, Nonproductive cough, Restrictive ventilatory defect, Pleural thickening, Hypoxemia, Oxy... ORPHA:2302
Bullous Dystrophy, Hereditary Macular Type
Acrocyanosis, Tapered finger, Short finger, Death in childhood OMIM:302000
Osteogenesis Imperfecta, Type Iii
Decreased calvarial ossification, Kyphosis, Recurrent fractures, Multiple prenatal fractures, Sev... OMIM:259420
Dyssegmental Dysplasia, Rolland-Desbuquois Type
Bowing of the long bones, Advanced ossification of carpal bones, Short neck, Short ribs, Limitati... OMIM:224400
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome
Abnormal lung lobation, Camptodactyly of finger, Vertebral segmentation defect, Pulmonary hypoplasia ORPHA:2631
Orofaciodigital Syndrome Iii
Kyphosis, Postaxial foot polydactyly, Short sternum, Pectus excavatum, Postaxial hand polydactyly OMIM:258850
Dyssegmental Dysplasia, Silverman-Handmaker Type
Bowing of the legs, Hypoplastic ischia, Hypoplastic pubic bone, Flexion contracture, Short neck, ... ORPHA:1865
Multiple Pterygium Syndrome, Lethal Type
Flexion contracture, Thin ribs, Increased susceptibility to fractures, Micrognathia, Abnormal cer... OMIM:253290
Bruck Syndrome 2
Flexion contracture, Osteopenia, Increased susceptibility to fractures, Platyspondyly, Knee flexi... OMIM:609220
Braddock Syndrome
Missing ribs, Short neck, Micrognathia, Pectus excavatum, Pulmonary arterial hypertension, Preaxi... ORPHA:52047
Autosomal Dominant Spondylocostal Dysostosis
Abnormal sacrum morphology, Missing ribs, Short neck, Short thorax, Posterior rib fusion, Hyperlo... ORPHA:1797
Osteogenesis Imperfecta, Type Xv
Recurrent fractures, Thin ribs, Platyspondyly, Joint hypermobility, Scoliosis, Bowing of limbs du... OMIM:615220
Interstitial Pneumonitis, Desquamative, Familial
Cyanosis, Recurrent upper respiratory tract infections, Type II pneumocyte hypertrophy, Tachypnea... OMIM:263000
Multiminicore Myopathy
Proximal muscle weakness in upper limbs, Minicore myopathy, Joint stiffness, Congenital muscular ... ORPHA:598
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Kyphosis, Ragged-red muscle fibers, Generalized amyotrophy, Respiratory failure, Dyspnea, Respira... ORPHA:352447
Fibrosis Of Extraocular Muscles, Congenital, 3C
Pectus excavatum, Kyphosis, Congenital fibrosis of extraocular muscles OMIM:609384
Achondrogenesis Type 1A
Short neck, Short thorax, Abnormal enchondral ossification, Recurrent fractures, Short palm, Micr... ORPHA:93299
3Mc Syndrome 2
Abnormality of the vertebral column, Craniosynostosis, Partial abdominal muscle agenesis, Diastas... OMIM:265050
Bruck Syndrome
Bowing of the long bones, Joint stiffness, Recurrent fractures, Kyphosis, Osteoporosis, Platyspon... ORPHA:2771
Pyknoachondrogenesis
Abnormal intramembranous ossification, Horizontal ribs, Hypoplastic ischia, Short long bone, Shor... ORPHA:3003
Myopathic Ehlers-Danlos Syndrome
Tapered finger, Increased variability in muscle fiber diameter, Micrognathia, Scoliosis, Decrease... ORPHA:536516
Microphthalmia, Syndromic 12
Congenital diaphragmatic hernia, Pulmonary hypoplasia OMIM:615524
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Vertebral hypoplasia, Flexion contracture, Short ribs, Epiphyseal stippling, Congenital hip dislo... OMIM:308050
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Coronal cleft vertebrae, Amelogenesis imperfecta, Micrognathia, Inguinal hernia, Scoliosis, Genu ... OMIM:618363
Hip Dysplasia, Beukes Type
Kyphosis, Abnormality of the epiphysis of the femoral head, Abnormality of epiphysis morphology, ... ORPHA:2114
Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly
Brachydactyly, Short ribs, Polydactyly, Scoliosis, Short long bone, Narrow chest OMIM:613819
Pallister-Hall-Like Syndrome
Short ribs, Micrognathia, Micromelia, Postaxial hand polydactyly, Death in infancy, Hip dislocation OMIM:241800
Osteogenesis Imperfecta Congenita, Microcephaly, And Cataracts
Decreased calvarial ossification, Multiple prenatal fractures, Pectus excavatum, Pectus carinatum... OMIM:259410
Weaver Syndrome
Clinodactyly, Diastasis recti, Flared humeral metaphysis, Radial deviation of finger, Flared femo... OMIM:277590
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Cyanosis, Myopathy, Respiratory distress ORPHA:91130
Osteomesopyknosis
Scoliosis, Sclerotic vertebral body, Kyphosis, Abnormal form of the vertebral bodies ORPHA:2777
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Brachydactyly, Hypoplastic ischia, Decreased calvarial ossification, Missing ribs, 2-3 toe syndac... OMIM:617866
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome
Abnormal rib morphology ORPHA:2435
Spinal Muscular Atrophy, Ryukyuan Type
Kyphoscoliosis, Spinal muscular atrophy, Proximal amyotrophy OMIM:271200
Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect
Distal arthrogryposis, Flexion contracture, Elbow flexion contracture, Ankle flexion contracture,... OMIM:617468
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Craniosynostosis, Short femoral neck, Short ribs, Cone-shaped epiphysis, Short phalanx of finger,... OMIM:266920
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Missing ribs, Abnormal form of the vertebral bodies, Clinodactyly of the 5th finger, Respiratory ... ORPHA:2759
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Congenital diaphragmatic hernia, Pulmonary hypoplasia ORPHA:2141
Myotonia With Skeletal Abnormalities And Mental Retardation
Firm muscles, Vertebral wedging, Irregular femoral epiphysis, Skeletal muscle hypertrophy, Bell-s... OMIM:255710
Diastrophic Dysplasia
Camptodactyly of finger, Abnormal rib morphology, Micrognathia, Micromelia, Scoliosis, Hip dyspla... ORPHA:628
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Kyphoscoliosis, Tremor, Respiratory distress, Distal amyotrophy OMIM:619099
Gorham-Stout Disease
Cortical irregularity, Abnormal pelvis bone morphology, Osteopenia, Abnormality of the cervical s... ORPHA:73
Mazabraud Syndrome
Bone pain, Recurrent fractures, Fibrous dysplasia of the bones ORPHA:57782
Nail-Patella Syndrome
Thickening of the lateral border of the scapula, Iliac horns, Quadriceps aplasia, Disproportionat... OMIM:161200
Nemaline Myopathy 7
Minicore myopathy, Nemaline bodies, Limb muscle weakness, Knee flexion contracture, Lumbar hyperl... OMIM:610687
Surfactant Metabolism Dysfunction, Pulmonary, 1
Cyanosis, Absent bronchoalveolar dimeric surfactant-protein B, Intraalveolar phospholipid accumul... OMIM:265120
Short Rib-Polydactyly Syndrome
Horizontal ribs, Abnormal ilium morphology, Abnormal pelvis bone morphology, Metaphyseal spurs, C... ORPHA:1505
Fibrodysplasia Ossificans Progressiva
Small cervical vertebral bodies, Abnormality of the first metatarsal bone, Clinodactyly of the 5t... OMIM:135100
X-Linked Charcot-Marie-Tooth Disease Type 1
Kyphosis, Scoliosis, Distal upper limb amyotrophy, Distal lower limb amyotrophy, Tremor ORPHA:101075
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset
Respiratory insufficiency, Respiratory insufficiency due to muscle weakness, Increased variabilit... OMIM:300717
Cortical Defects, Wormian Bones, And Dentinogenesis Imperfecta
Clinodactyly of the 3rd toe, Asymmetry of the thorax, Thin ribs, Increased susceptibility to frac... OMIM:604922
Cyanosis And Hepatic Disease
Cyanosis, Clubbing, Dyspnea OMIM:219400
Nemaline Myopathy 2
Increased variability in muscle fiber diameter, Limb muscle weakness, Abnormal rib cage morpholog... OMIM:256030
X-Linked Intellectual Disability, Seemanova Type
Hypoplasia of the musculature, Skeletal muscle atrophy ORPHA:85323
Marshall-Smith Syndrome
Clinodactyly of the 5th finger, Scoliosis, Bullet-shaped middle phalanges of the hand, Hallux val... OMIM:602535
Metaphyseal Chondrodysplasia, Jansen Type
Bowing of the long bones, Short long bone, Osteopenia, Short ribs, Clinodactyly of the 5th finger... OMIM:156400
Spondylometaphyseal Dysplasia, Kozlowski Type
Genu varum, Abnormality of the vertebral column, Abnormal ilium morphology, Coronal cleft vertebr... ORPHA:93314
Combined Oxidative Phosphorylation Deficiency 28
Ragged-red muscle fibers, Respiratory failure OMIM:616794
Horizontal Gaze Palsy With Progressive Scoliosis
Scoliosis, Kyphosis, Short neck ORPHA:2744
Myopathy, Myofibrillar, 6
Generalized amyotrophy, Muscular dystrophy, EMG: myopathic abnormalities, Reduced forced vital ca... OMIM:612954
Becker Nevus Syndrome
Supernumerary ribs, Kyphosis, Shoulder girdle muscle atrophy, Lipoatrophy, Pectus excavatum, Micr... ORPHA:64755
Seckel Syndrome 4
11 pairs of ribs, Steep acetabular roof OMIM:613676
Lethal Kniest-Like Dysplasia
Brachydactyly, Coronal cleft vertebrae, Anterior rib cupping, Short neck, Hypoplastic vertebral b... ORPHA:2347
Meier-Gorlin Syndrome 1
Absent sternal ossification, Genu varum, Clinodactyly of the 5th finger, Micrognathia, Abnormal r... OMIM:224690
Pontocerebellar Hypoplasia, Type 4
Death in infancy, Respiratory failure, Congenital contracture OMIM:225753
Donnai-Barrow Syndrome
Short sternum, Congenital diaphragmatic hernia, Omphalocele, Diaphragmatic eventration, Umbilical... OMIM:222448
Congenital Myasthenic Syndrome
Central sleep apnea, Arthrogryposis multiplex congenita, Cyanosis, EMG: myopathic abnormalities, ... ORPHA:590
Presynaptic Congenital Myasthenic Syndromes
Central sleep apnea, Arthrogryposis multiplex congenita, Cyanosis, EMG: myopathic abnormalities, ... ORPHA:98914
Ullrich Congenital Muscular Dystrophy 1
Increased laxity of fingers, Flexion contracture, Nocturnal hypoventilation, Congenital muscular ... OMIM:254090
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4
Apnea, Pulmonary hypoplasia OMIM:615228
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Brachydactyly, Short ribs, Thoracic dysplasia, Lateral clavicle hook, Cone-shaped epiphyses of th... OMIM:615630
Hypophosphatasia
Bowing of the long bones, Emphysema, Craniosynostosis, Recurrent fractures, Respiratory insuffici... ORPHA:436
Osteogenesis Imperfecta, Type Xxi
Bowing of the legs, Bowing of the arm, Coxa valga, Recurrent fractures, Osteoporosis, Platyspondy... OMIM:619131
Jeune Syndrome
Brachydactyly, Toe syndactyly, Abnormality of pelvic girdle bone morphology, Short thorax, Postax... ORPHA:474
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Abnormality of the diaphragm, Congenital diaphragmatic hernia, Pulmonary hypoplasia OMIM:601163
Sialidosis Type 2
Flexion contracture, Short thorax, Kyphosis, Skeletal muscle atrophy, Osteoporosis, Dyspnea, Ingu... ORPHA:87876
Spondylocostal Dysostosis 1, Autosomal Recessive
Block vertebrae, Short neck, Back pain, Death in infancy, Vertebral fusion, Abnormality of the od... OMIM:277300
Poliomyelitis
Respiratory failure requiring assisted ventilation, Abnormal skeletal muscle morphology, Skeletal... ORPHA:2912
Mucolipidosis Iii Alpha/Beta
Craniosynostosis, Shallow acetabular fossae, Short long bone, Short ribs, Scoliosis, Irregular ca... OMIM:252600
Typical Nemaline Myopathy
Genu varum, Increased variability in muscle fiber diameter, Micrognathia, Scoliosis, Arthrogrypos... ORPHA:171436
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6
Proximal muscle weakness in upper limbs, Skeletal muscle atrophy, Lower limb muscle weakness, Pro... OMIM:613954
Spinal Muscular Atrophy, X-Linked 2
Flexion contracture, Multiple joint contractures, Facial palsy, Micrognathia, Inguinal hernia, Re... OMIM:301830
Osteogenesis Imperfecta, Type V
Hyperextensibility at elbow, Abnormality of pelvic girdle bone morphology, Osteopenia, Recurrent ... OMIM:610967
Proximal Spinal Muscular Atrophy
Distal lower limb muscle weakness, Thoracic kyphosis, Flexion contracture, Multiple joint contrac... ORPHA:70
Prieto Syndrome
Clinodactyly, Coxa valga, 11 pairs of ribs, Osteoporosis, Inguinal hernia, Radial deviation of fi... OMIM:309610
Surfactant Metabolism Dysfunction, Pulmonary, 2
Hypoxemia, Tachypnea, Spontaneous pneumothorax, Cyanosis, Recurrent pneumonia, Interstitial pneum... OMIM:610913
Krabbe Disease, Atypical, Due To Saposin A Deficiency
Respiratory insufficiency, Death in infancy, Respiratory failure, Central apnea OMIM:611722
Gm1-Gangliosidosis, Type Iii
Kyphosis, Skeletal muscle atrophy, Anterior beaking of lumbar vertebrae, Hypoplastic acetabulae, ... OMIM:230650
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Brachydactyly, Horizontal ribs, Irregular epiphyses, Hypoplasia of the ulna, Foot polydactyly, Me... OMIM:208500
X-Linked Emery-Dreifuss Muscular Dystrophy
Proximal muscle weakness in upper limbs, Proximal upper limb amyotrophy, Absent muscle fiber emer... ORPHA:98863
Dyggve-Melchior-Clausen Disease
Abnormal hip bone morphology, Abnormality of the vertebral column, Abnormal pelvis bone morpholog... ORPHA:239
Larsen-Like Syndrome, Lethal Type
Neonatal death, Respiratory insufficiency, Tracheomalacia, Pulmonary hypoplasia OMIM:245650
Myopathy, Centronuclear, 2
Flexion contracture, Kyphosis, Generalized amyotrophy, EMG: myopathic abnormalities, Hyperlordosi... OMIM:255200
Momo Syndrome
Congenital pseudoarthrosis of the clavicle, Cutis marmorata, Short neck, Short sternum, Abnormal ... ORPHA:2563
Arthrogryposis Multiplex Congenita 3, Myogenic Type
Restrictive ventilatory defect, Flexion contracture, Kyphosis, Adducted thumb, Scoliosis, Arthrog... OMIM:618484
Osteopetrosis, Autosomal Dominant 2
Fractures of the long bones, Abnormality of pelvic girdle bone morphology, Recurrent fractures, H... OMIM:166600
Mitochondrial Complex I Deficiency, Nuclear Type 35
Neonatal respiratory distress, Neonatal death, Pulmonary arterial hypertension, Pulmonary hypoplasia OMIM:619003
Lichtenstein Syndrome
Metacarpophalangeal joint contracture, Enamel hypoplasia, Osteoporosis, Increased susceptibility ... OMIM:246550
Diastrophic Dysplasia
Irregular epiphyses, Flattened epiphysis, Cervical kyphosis, Kyphoscoliosis, Hypoplastic cervical... OMIM:222600
Lethal Recessive Chondrodysplasia
Flared elbow metaphyses, Micrognathia, Macroglossia, Micromelia, Polyhydramnios, Limb undergrowth... ORPHA:1423
Geroderma Osteodysplastica
Recurrent fractures, Abnormality of epiphysis morphology, Prematurely aged appearance, Vertebral ... ORPHA:2078
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome
Pectus excavatum, Inguinal hernia, Scoliosis, Hypoplasia of the musculature, Ulnar deviation of f... ORPHA:1101
Momo Syndrome
Short neck, Delayed skeletal maturation, Cutis marmorata, Short sternum OMIM:157980
Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency
Respiratory insufficiency, Scoliosis, Myopathy, Fatty replacement of skeletal muscle OMIM:255100
Pelvis-Shoulder Dysplasia
Hypoplastic ischia, Hypoplastic pubic bone, Absent proximal finger flexion creases, Aplasia/Hypop... ORPHA:2839
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Proximal muscle weakness in upper limbs, Proximal upper limb amyotrophy, Absent muscle fiber emer... ORPHA:98855
Cornelia De Lange Syndrome 1
Clinodactyly of the 5th finger, Micrognathia, Micromelia, Inguinal hernia, Supernumerary ribs, Cu... OMIM:122470
Pericardial And Diaphragmatic Defect
Hypoxemia, Congenital diaphragmatic hernia, Aplasia of the left hemidiaphragm, Pulmonary sequestr... ORPHA:2847
Geroderma Osteodysplasticum
Osteopenia, Recurrent fractures, Vertebral compression fracture, Tibial bowing, Beaking of verteb... OMIM:231070
Emery-Dreifuss Muscular Dystrophy
Proximal muscle weakness in upper limbs, Proximal upper limb amyotrophy, Absent muscle fiber emer... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Proximal muscle weakness in upper limbs, Proximal upper limb amyotrophy, Absent muscle fiber emer... ORPHA:98853
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Achilles tendon contracture, Restrictive ventilatory defect, Kyphosis, Congenital muscular dystro... OMIM:606612
Turnpenny-Fry Syndrome
Thoracic kyphoscoliosis, Clinodactyly, Facial hypotonia, Short sternum, Tapered finger, Pectus ex... OMIM:618371
Heyn-Sproul-Jackson Syndrome
Short metacarpal, 11 pairs of ribs, Short phalanx of finger, Broad metacarpals, Broad phalanx OMIM:618724
Orofaciodigital Syndrome Type 3
Thoracic kyphosis, Postaxial foot polydactyly, Short sternum, Pectus excavatum, Postaxial hand po... ORPHA:2752
Myasthenic Syndrome, Congenital, 5
Type 2 muscle fiber atrophy, Hyperlordosis, Limb muscle weakness, Respiratory insufficiency due t... OMIM:603034
Coenzyme Q10 Deficiency, Primary, 8
Respiratory distress, Left ventricular hypertrophy, Flexion contracture, Pulmonary hypoplasia OMIM:616733
Autosomal Recessive Spondylocostal Dysostosis
Umbilical hernia, Finger syndactyly, Short thorax, Short neck, Kyphosis, Abnormal form of the ver... ORPHA:2311
Neonatal Severe Primary Hyperparathyroidism
Narrow chest, Abnormality of the metaphysis, Recurrent fractures ORPHA:417
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods
Fusion of midcervical facet joints, Nemaline bodies, Cervical vertebral bodies with decreased ant... OMIM:606842
Lethal Osteosclerotic Bone Dysplasia
Short neck, Respiratory failure, Micrognathia, Dyspnea, Mandibular aplasia, Respiratory distress ORPHA:1832
Combined Oxidative Phosphorylation Deficiency 8
Death in infancy, Pulmonary hypoplasia OMIM:614096
Spondyloepimetaphyseal Dysplasia, Irapa Type
Synostosis of carpal bones, Short palm, Abnormality of epiphysis morphology, Short metacarpal, Up... ORPHA:93351
Mycetoma
Vertebral compression fracture, Abnormality of forearm bone, Painless fractures due to injury, Pr... ORPHA:2583
Intermediate Osteopetrosis
Recurrent fractures, Sandwich appearance of vertebral bodies, Erlenmeyer flask deformity of the f... ORPHA:210110
Isolated Klippel-Feil Syndrome
Cervical C2/C3 vertebral fusion, Abnormality of the vertebral column, Abnormal sacrum morphology,... ORPHA:2345
X-Linked Charcot-Marie-Tooth Disease Type 4
Scoliosis, Kyphosis, Tremor, Skeletal muscle atrophy ORPHA:101078
Wrinkly Skin Syndrome
Osteopenia, Kyphosis, Palmoplantar cutis laxa, Congenital hip dislocation, Joint hypermobility, P... OMIM:278250
Myopathy, Congenital, With Structured Cores And Z-Line Abnormalities
Increased variability in muscle fiber diameter, Respiratory insufficiency, Type 1 muscle fiber pr... OMIM:618654
Thoraco-Abdominal Enteric Duplication
Camptodactyly of finger, Missing ribs, Respiratory insufficiency ORPHA:1759
Spondylometaphyseal Dysplasia, Kozlowski Type
Delayed ossification of carpal bones, Abnormal rib cage morphology, Scoliosis, Narrow greater sci... OMIM:184252
Spondyloepiphyseal Dysplasia, Stanescu Type
Coxa valga, Beaking of vertebral bodies, Platyspondyly, Kyphoscoliosis, Hypoplastic ilia OMIM:616583
Muscular Dystrophy, Duchenne Type
Flexion contracture, Respiratory failure, Muscular dystrophy, Respiratory insufficiency, Hyperlor... OMIM:310200
Spondyloepiphyseal Dysplasia, Kondo-Fu Type
Brachydactyly, Delayed ossification of carpal bones, Kyphosis, Pectus carinatum OMIM:618392
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Bowing of the legs, Bulging of the costochondral junction, Enlargement of the costochondral junct... OMIM:600081
Rigid Spine Muscular Dystrophy 1
Minicore myopathy, Restrictive ventilatory defect, Flexion contracture, Nocturnal hypoventilation... OMIM:602771
Urban-Rogers-Meyer Syndrome
Brachydactyly, Toe syndactyly, Short neck, Recurrent fractures, Abnormality of epiphysis morpholo... ORPHA:3409
Mesomelic Dysplasia, Kantaputra Type
Synostosis of carpal bones, Vertebral segmentation defect, Clinodactyly of the 5th finger, Abnorm... ORPHA:1836
Hypocalcemic Vitamin D-Resistant Rickets
Genu varum, Abnormal hip bone morphology, Recurrent fractures, Abnormal form of the vertebral bod... ORPHA:93160
Kniest-Like Dysplasia, Lethal
Brachydactyly, Coronal cleft vertebrae, Metaphyseal irregularity, Short neck, Hypoplastic vertebr... OMIM:245190
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities
Hypoplasia of the ulna, Respiratory failure, Micrognathia, Neonatal death, Respiratory insufficie... OMIM:228940
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma
Premature graying of hair, Fractures of the long bones, Bowing of the legs, Bruising susceptibili... OMIM:112250
Dyggve-Melchior-Clausen Disease
Genu varum, Clinodactyly of the 5th finger, Rhizomelic arm shortening, Hypoplastic iliac wing, Sc... OMIM:223800
Intellectual Disability-Developmental Delay-Contractures Syndrome
Kyphosis, Clinodactyly of the 5th finger, Congenital foot contractures, Scoliosis, Distal amyotro... ORPHA:3454
Fetal Akinesia Deformation Sequence
Multiple joint contractures, Generalized amyotrophy, Respiratory insufficiency, Scoliosis, Arthro... ORPHA:994
Brachyolmia Type 1, Toledo Type
Broad tibial metaphyses, Precocious costochondral ossification, Short neck, Short femoral neck, I... OMIM:271630
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Metaphyseal cupping of proximal phalanges, 11 pairs of ribs, Thin ribs, Rhizomelia, Decreased sku... OMIM:300863
Buschke-Ollendorff Syndrome
Craniosynostosis, Flexion contracture, Joint stiffness, Abnormality of epiphysis morphology, Recu... ORPHA:1306
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Cupped ribs, Brachydactyly, Broad toe, Hypoplastic pubic bone, Delayed ossification of carpal bon... OMIM:609616
Schinzel-Giedion Midface Retraction Syndrome
Opisthotonus, Short neck, Short sternum, Thickened cortex of long bones, Wide distal femoral meta... OMIM:269150
Tarp Syndrome
Clinodactyly, Cutaneous syndactyly, Short sternum, Hypoplasia of the radius, Micrognathia, Pectus... OMIM:311900
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Short neck, Arthrogryposis multiplex congenita, Neonatal death, Stillbirth, Pulmonary hypoplasia OMIM:236500
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type
Irregular epiphyses, Narrow iliac wing, Bowing of the legs, Hypoplastic pubic bone, Ovoid vertebr... OMIM:608728
Developmental And Epileptic Encephalopathy 71
Respiratory insufficiency, Respiratory failure OMIM:618328
Osteogenesis Imperfecta, Type Xviii
Bowing of the long bones, Generalized osteoporosis, Recurrent fractures, Vertebral compression fr... OMIM:617952
Bronchopulmonary Dysplasia
Emphysema, Abnormal respiratory system physiology, Pulmonary sequestration, Respiratory failure r... ORPHA:70589
Autosomal Recessive Spastic Paraplegia Type 53
Kyphosis, Limb dystonia, Pectus carinatum, Joint hyperflexibility, Upper limb hypertonia ORPHA:319199
Smith-Mccort Dysplasia 1
Irregular epiphyses, Genu varum, Metaphyseal irregularity, Atlantoaxial instability, Kyphosis, Sh... OMIM:607326
Congenital Contractures Of The Limbs And Face, Hypotonia, And Developmental Delay
Short neck, Elbow flexion contracture, Micrognathia, Knee flexion contracture, Inguinal hernia, A... OMIM:616266
Spondylocostal Dysostosis 2, Autosomal Recessive
Vertebral clefting, Restrictive ventilatory defect, Short neck, Vertebral segmentation defect, He... OMIM:608681
Spondyloepimetaphyseal Dysplasia With Multiple Dislocations
Genu varum, Generalized joint laxity, Scoliosis, Fragmented epiphyses, Genu valgum, Hip dislocati... ORPHA:93360
Focal Dermal Hypoplasia
Diastasis recti, Hernia, Telangiectasia of the skin, Inguinal hernia, Scoliosis, Coarse metaphyse... ORPHA:2092
Spondylometaphyseal Dysplasia, Sedaghatian Type
Cupped ribs, Cone-shaped metacarpal epiphyses, 11 pairs of ribs, Short toe, Narrow greater sciati... OMIM:250220
Dysplasia Epiphysealis Hemimelica
Irregular epiphyses, Genu varum, Accelerated skeletal maturation, Joint stiffness, Recurrent frac... ORPHA:1822
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
Genu varum, Clinodactyly, Vertebral hypoplasia, Abnormal bone ossification, Hypoplastic iliac win... ORPHA:93315
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Short ribs, Abnormal rib morphology, Pulmonary arterial hypertension, Postaxial hand polydactyly,... ORPHA:2519
Central Core Disease
Nemaline bodies, Multiple joint contractures, Joint laxity, Congenital hip dislocation, Type 1 mu... ORPHA:597
Renal Hypodysplasia/Aplasia 2
Pulmonary hypoplasia OMIM:615721
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Short neck, Short ribs, Aplastic clavicle, Preaxial polydactyly, Congenital diaphragmatic hernia,... OMIM:616546
Pseudoachondroplasia
Genu varum, Flared femoral metaphysis, Scoliosis, Irregular carpal bones, Metaphyseal widening, F... OMIM:177170
Acute Interstitial Pneumonia
Cyanosis, Nonproductive cough, Reticulonodular pattern on pulmonary HRCT, Hypoxemia, Crackles, Ta... ORPHA:79126
Osteogenesis Imperfecta, Type Viii
Decreased calvarial ossification, Osteopenia, Recurrent fractures, Multiple prenatal fractures, K... OMIM:610915
Spondylometaphyseal Dysplasia, A4 Type
Short palm, Platyspondyly, Micromelia, Flared, irregular rib ends, Limitation of joint mobility, ... ORPHA:168555
Diaphanospondylodysostosis
Vertebral segmentation defect, Missing ribs, Short neck, Tracheomalacia, Hammertoe, Lumbosacral m... OMIM:608022
Stuve-Wiedemann Syndrome 1
Osteoporosis, Micrognathia, Scoliosis, Short tibia, Bowing of the long bones, Short neck, Metaphy... OMIM:601559
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Brachydactyly, Horizontal ribs, Hypoplasia of the ulna, Short long bone, Metaphyseal widening, Fi... OMIM:613091
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Abnormal 5th metacarpal morphology, Rhizomelic arm shortening, Cone-shaped epiphysis, Tachypnea, ... ORPHA:397715
Alg9-Cdg
Lipodystrophy, Short neck, Asthma, Hypoplasia of the musculature, Rhizomelia, Broad ischia, Abnor... ORPHA:79328
Short-Rib Thoracic Dysplasia 12
Horizontal ribs, Inguinal hernia, Short toe, Narrow chest, Brachydactyly, Bowing of the legs, Sho... OMIM:269860
Tarp Syndrome
Cyanosis, Clinodactyly, Hypoplasia of proximal radius, Finger syndactyly, Short sternum, Rocker b... ORPHA:2886
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Brachydactyly, Bowing of the long bones, Short long bone, Short ribs, Thoracic dysplasia, Hypopla... OMIM:614091
Spondylometaphyseal Dysplasia, Schmidt Type
Abnormality of the vertebral column, Abnormal ilium morphology, Short long bone, Abnormality of t... ORPHA:93316
Spondyloepiphyseal Dysplasia Tarda
Knee pain, Abnormality of the tibial plateaux, Scoliosis, Decreased cervical spine mobility, Limb... ORPHA:93284
Metaphyseal Chondrodysplasia, Schmid Type
Genu varum, Proximal femoral metaphyseal irregularity, Hip dysplasia, Bowing of the legs, Widened... ORPHA:174
Contractural Arachnodactyly, Congenital
Distal arthrogryposis, Micrognathia, Scoliosis, Bowing of the long bones, Short neck, Limited elb... OMIM:121050
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Bowing of the long bones, Short neck, Abnormality of epiphysis morphology, Rhizomelia, Decreased ... ORPHA:93267
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1
Respiratory failure, Tachypnea, Limb muscle weakness, Diaphragmatic eventration, Inspiratory stri... OMIM:604320
Osteogenesis Imperfecta, Type Vi
Vertebral compression fracture, Joint laxity, Beaking of vertebral bodies, Increased susceptibili... OMIM:613982
Dominant Beta-Thalassemia
Bowing of the long bones, Osteoporosis, Jaundice, Dyspnea, Hypoplasia of the musculature, Genu va... ORPHA:231226
Schneckenbecken Dysplasia
Accelerated skeletal maturation, Short neck, Advanced tarsal ossification, Hypoplastic vertebral ... ORPHA:3144
Mitochondrial Complex I Deficiency, Nuclear Type 30
Neonatal death, Respiratory failure OMIM:301021
Campomelic Dysplasia
Bowing of the long bones, Hypoplastic inferior ilia, Short neck, Tracheomalacia, Recurrent fractu... ORPHA:140
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion
Umbilical hernia, Flexion contracture, Long toe, Diastasis recti, Coat hanger sign of ribs, Joint... ORPHA:254528
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Abnormal distal phalanx morphology of finger, Diastasis recti, Metaphyseal spurs, Hernia of the a... ORPHA:96334
Winchester Syndrome
Carpal osteolysis, Broad metacarpals, Osteolysis involving tarsal bones, Kyphosis OMIM:277950
Ellis-Van Creveld Syndrome
Cone-shaped epiphyses of phalanges 2 to 5, Horizontal ribs, Short long bone, Postaxial foot polyd... OMIM:225500
Thymic Aplasia With Fetal Death
Stillbirth, Pulmonary hypoplasia OMIM:274210
Spondyloepimetaphyseal Dysplasia, Irapa Type
Enlargement of the costochondral junction, Hypoplastic sacrum, Short palm, Short metacarpal, Uppe... OMIM:271650
Rare Circulatory System Disease
Cyanosis, Knee pain, Thoracic kyphosis, Limited wrist movement, Periostosis, Limitation of joint ... ORPHA:98028
Dyssegmental Dysplasia, Silverman-Handmaker Type
Neonatal death, Anisospondyly, Pulmonary hypoplasia OMIM:224410
Spondylospinal Thoracic Dysostosis
Pulmonary hypoplasia, Arthrogryposis multiplex congenita OMIM:601809
Apnea, Central Sleep
Cyanosis, Sleep apnea, Irregular respiration, Abnormal pattern of respiration OMIM:207720
Triosephosphate Isomerase Deficiency
Dystonia, Kyphosis, Skeletal muscle atrophy, Death in adolescence, Respiratory failure, Jaundice,... OMIM:615512
Myopathy, Congenital, Progressive, With Scoliosis
Facial hypotonia, Skeletal muscle atrophy, Micrognathia, Respiratory insufficiency due to muscle ... OMIM:618578
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Skeletal muscle atrophy, Respiratory failure, Neonatal death, Death in childhood, Neonatal respir... OMIM:245400
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction
11 pairs of ribs, Hyperextensibility of the finger joints, Respiratory insufficiency, Intention t... OMIM:618356
Arthrogryposis Multiplex Congenita 5
Limitation of knee mobility, Dystonia, Hammertoe, 11 pairs of ribs, Micrognathia, Inguinal hernia... OMIM:618947
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Missing ribs, Block vertebrae, Short neck, Short ribs, Thin ribs, Supernumerary vertebrae, Inguin... OMIM:271520
Osteogenesis Imperfecta, Type Xiv
Osteopenia, Recurrent fractures, Increased susceptibility to fractures, Scoliosis, Femoral bowing OMIM:615066
Lethal Congenital Contracture Syndrome 11
Pulmonary hypoplasia OMIM:617194
Pycnodysostosis
Micrognathia, Hypoplastic iliac wing, Scoliosis, Small hand, Narrow chest, Brachydactyly, Increas... ORPHA:763
Lethal Congenital Contracture Syndrome 5
Flexion contracture, Thin ribs, Respiratory insufficiency, Death in infancy, Centrally nucleated ... OMIM:615368
Blomstrand Lethal Chondrodysplasia
Bowing of the long bones, Accelerated skeletal maturation, Short thorax, Abnormality of epiphysis... ORPHA:50945
Gnathodiaphyseal Dysplasia
Bowing of the long bones, Osteopenia, Increased susceptibility to fractures, Osteomyelitis, Diaph... OMIM:166260
Osteogenesis Imperfecta, Type Xi
Osteopenia, Vertebral compression fracture, Joint laxity, Vertebral wedging, Increased susceptibi... OMIM:610968
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Brachydactyly, Horizontal ribs, Short long bone, Lateral clavicle hook, Thoracic dysplasia, Respi... OMIM:615633
Spastic Paraplegia 53, Autosomal Recessive
Dystonia, Kyphosis, Lower limb hypertonia, Pectus carinatum, Joint hyperflexibility, Upper limb h... OMIM:614898
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Horizontal ribs, Postaxial polydactyly, Short ribs, Rhizomelia, Preaxial polydactyly, Squared ili... OMIM:616300
Spondyloepimetaphyseal Dysplasia, Strudwick Type
Brachydactyly, Metaphyseal irregularity, Anterior rib cupping, Hypoplastic pubic bone, Delayed pu... OMIM:184250
Ulbright-Hodes Syndrome
Ovoid thoracolumbar vertebrae, Abnormal forearm bone morphology, Short neck, Phocomelia, Short st... ORPHA:3404
Weismann-Netter Syndrome
Bowing of the long bones, Abnormal hip bone morphology, Abnormality of the ulna, Kyphosis, Abnorm... ORPHA:3344
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Decreased calvarial ossification, Recurrent fractures, Abnormal rib morphology, Micromelia, Joint... ORPHA:2772
Cryptogenic Organizing Pneumonia
Cyanosis, Nonproductive cough, Restrictive ventilatory defect, Hypoxemia, Bronchial breath sound,... ORPHA:1302
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome
Abnormal hip bone morphology, Skeletal muscle atrophy, Craniofacial hyperostosis, Clinodactyly of... ORPHA:3068
Mucolipidosis Ii Alpha/Beta
Diastasis recti, Macroglossia, Inguinal hernia, Abnormal rib cage morphology, Metaphyseal widenin... OMIM:252500
Neu-Laxova Syndrome
Flexion contracture, Osteopenia, Opisthotonus, Skeletal muscle atrophy, Muscular dystrophy, Osteo... ORPHA:2671
Infant Acute Respiratory Distress Syndrome
Cyanosis, Pneumonia, Hypoxemia, Tachypnea, Respiratory failure, Respiratory tract infection, Atel... ORPHA:70587
Melnick-Needles Syndrome
Bowing of the long bones, Coxa valga, Short thorax, Joint hyperflexibility, Craniofacial hyperost... ORPHA:2484
Axial Mesodermal Dysplasia Spectrum
Missing ribs, Abnormality of pelvic girdle bone morphology, Short neck, Abnormal form of the vert... ORPHA:1834
Weismann-Netter Syndrome
Anterior tibial bowing, Kyphosis, Squared iliac bones, Lateral femoral bowing, Horizontal sacrum,... OMIM:112350
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
Cupped ribs, Carpal synostosis, 11 pairs of ribs, Osteoporosis, Micrognathia, Abnormal rib cage m... OMIM:271640
Spondyloepiphyseal Dysplasia Tarda, X-Linked
Irregular epiphyses, Short neck, Hip osteoarthritis, Short femoral neck, Kyphosis, Shield chest, ... OMIM:313400
Richieri Costa-Da Silva Syndrome
Decreased anterioposterior diameter of lumbar vertebral bodies, Generalized bone demineralization... ORPHA:3101
Tonne-Kalscheuer Syndrome
Congenital diaphragmatic hernia, Pulmonary hypoplasia, Tremor OMIM:300978
Craniodiaphyseal Dysplasia, Autosomal Dominant
Diaphyseal sclerosis, Craniofacial osteosclerosis, Craniofacial hyperostosis, Cortical sclerosis,... OMIM:122860
Cole-Carpenter Syndrome
Bowing of the long bones, Kyphosis, Recurrent fractures, Abnormal form of the vertebral bodies, C... ORPHA:2050
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy
Brachydactyly, Flattened epiphysis, Thoracic kyphosis, Anterior rib cupping, Flexion contracture,... OMIM:300232
Beta-Thalassemia Major
Bowing of the long bones, Osteoporosis, Jaundice, Dyspnea, Hypoplasia of the musculature, Genu va... ORPHA:231214
Spondylometaphyseal Dysplasia, Axial
Recurrent pneumonia, Anterior rib cupping, Short femoral neck, Rhizomelia, Proximal femoral metap... OMIM:602271
Myopathy, Centronuclear, X-Linked
Respiratory failure requiring assisted ventilation, Flexion contracture, Respiratory failure, Ara... OMIM:310400
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy
Flexion contracture, Intention tremor, Respiratory failure, Tapered finger, Scoliosis, Distal amy... OMIM:616505
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly
Brachydactyly, Postaxial polydactyly, Short ribs, Thoracic dysplasia, Lateral clavicle hook, Prea... OMIM:615503
Basal Cell Nevus Syndrome
Brachydactyly, Supernumerary ribs, Irregular ossification of hand bones, Short distal phalanx of ... OMIM:109400
Albers-Schönberg Osteopetrosis
Recurrent fractures, Abnormality of epiphysis morphology, Avascular necrosis, Osteoarthritis, Gen... ORPHA:53
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome
Joint stiffness, Kyphosis, Arachnodactyly, Scoliosis, Pectus carinatum, Delayed skeletal maturation ORPHA:1548
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome
Acrocyanosis ORPHA:86918
Marden-Walker Syndrome
Joint stiffness, Kyphosis, Abnormal form of the vertebral bodies, Skeletal muscle atrophy, Muscul... ORPHA:2461
Spinal Muscular Atrophy With Congenital Bone Fractures 1
Flexion contracture, Generalized amyotrophy, Increased variability in muscle fiber diameter, Diap... OMIM:616866
Mitochondrial Myopathy And Sideroblastic Anemia
Kyphosis, Generalized limb muscle atrophy, Micrognathia, Scoliosis, Myopathy ORPHA:2598
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Abnormal thumb morphology, Triphalangeal thumb, Short thumb, Abnormal rib morphology, Congenital ... ORPHA:1120
Peripheral Motor Neuropathy-Dysautonomia Syndrome
Acrocyanosis, Joint stiffness, Skeletal muscle atrophy ORPHA:2400
Mitochondrial Dna Depletion Syndrome 11
Kyphosis, Generalized amyotrophy, Proximal amyotrophy, Respiratory insufficiency, Dyspnea, Spinal... OMIM:615084
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Achilles tendon contracture, Pelvic girdle muscle weakness, Restrictive ventilatory defect, Kypho... OMIM:607155
Crisponi Syndrome
Flexion contracture, Kyphosis, Respiratory insufficiency, Micrognathia, Scoliosis, Camptodactyly ... ORPHA:1545
Cleidocranial Dysplasia
Abnormal thumb morphology, Clinodactyly of the 5th finger, Tapered finger, Osteoporosis, Decrease... ORPHA:1452
Rin2 Syndrome
Brachydactyly, Bruising susceptibility, Increased susceptibility to fractures, Joint hypermobilit... ORPHA:217335
Developmental Malformations-Deafness-Dystonia Syndrome
Kyphosis, Generalized dystonia, Hypoplastic scapulae, Macroglossia, Micromelia, Scoliosis, Death ... ORPHA:79107
Achondroplasia
Hypoxemia, Hip joint hypermobility, Central sleep apnea, Spinal canal stenosis, Narrow greater sc... ORPHA:15
Craniodiaphyseal Dysplasia
Craniofacial hyperostosis, Diaphyseal thickening, Abnormal rib morphology ORPHA:1513
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Bowing of the legs, Bulging of the costochondral junction, Enlargement of the costochondral junct... OMIM:264700
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Bowing of the legs, Bulging of the costochondral junction, Enlargement of the costochondral junct... OMIM:241530
Holt-Oram Syndrome
Absent thumb, Joint stiffness, Phocomelia, Finger syndactyly, Kyphosis, Triphalangeal thumb, Abno... ORPHA:392
3M Syndrome
Horizontal ribs, Clinodactyly of the 5th finger, Micromelia, Scoliosis, Enlarged thorax, Scapular... ORPHA:2616
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density
Hypoplasia of the ulna, Lumbar platyspondyly, Fibular hypoplasia, Hypoplasia of the radius, Absen... OMIM:601376
Pulmonary Alveolar Proteinosis, Acquired
Cyanosis, Restrictive ventilatory defect, Pneumonia, Hypoxemia, Lung abscess, Intraalveolar phosp... OMIM:610910
Mucopolysaccharidosis Type 4
Bowing of the long bones, Coxa valga, Short thorax, Abnormality of epiphysis morphology, Short ne... ORPHA:582
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Anterior atlanto-occipital dislocation, Tracheomalacia, Osteoporosis, Micrognathia, Scoliosis, Ha... ORPHA:536467
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers
Kyphosis, Tapered finger, Pectus excavatum, Scoliosis, Pectus carinatum ORPHA:276630
Osteogenesis Imperfecta, Type Xiii
Increased bone mineral density, Skeletal muscle atrophy, Dislocated radial head, Osteoporosis, Pl... OMIM:614856
Achondrogenesis Type 1B
Short neck, Short thorax, Abnormal enchondral ossification, Abnormal rib morphology, Micrognathia... ORPHA:93298
Caudal Regression Syndrome
Missing ribs, Joint stiffness, Abnormality of pelvic girdle bone morphology, Hypoplastic vertebra... ORPHA:3027
Craniofrontonasal Dysplasia
Brachydactyly, Congenital pseudoarthrosis of the clavicle, Craniosynostosis, Finger syndactyly, S... ORPHA:1520
Familial Osteodysplasia, Anderson Type
Missing ribs, Kyphosis, Recurrent fractures, Abnormal form of the vertebral bodies, Clinodactyly ... ORPHA:2769
Seizures, Benign Familial Infantile, 3
Cyanosis, Apnea OMIM:607745
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia
Toe clinodactyly, Upper limb undergrowth, Pathologic fracture, Dentinogenesis imperfecta, Abnorma... ORPHA:166277
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Horizontal ribs, Decreased calvarial ossification, Hypoplastic pubic bone, Short long bone, Short... OMIM:617925
Ceroid Lipofuscinosis, Neuronal, 10
Respiratory failure, Respiratory insufficiency, Neonatal death, Apnea, Split hand OMIM:610127
Severe Neurodegenerative Syndrome With Lipodystrophy
Reduced intraabdominal adipose tissue, Respiratory failure, Generalized lipodystrophy, Limb dysto... ORPHA:363400
Congenital Disorder Of Glycosylation, Type Ig
Short ribs, Sandal gap, Rhizomelia, Hypoplasia of the radius, Short tibia, Short humerus, Butterf... OMIM:607143
Meier-Gorlin Syndrome 3
Absent sternal ossification, Genu varum, Recurrent pneumonia, Short thorax, Tracheomalacia, Patel... OMIM:613803
Gillessen-Kaesbach-Nishimura Syndrome
Short neck, Flexion contracture, Congenital diaphragmatic hernia, Abnormal lung lobation, Pulmona... OMIM:263210
Lymphangiectasia, Intestinal
Pedal edema, Stillbirth, Prominent floating ribs, Edema OMIM:152800
3-Methylglutaconic Aciduria, Type Viii
Dystonia, Respiratory failure, Apnea, Death in infancy, Tremor OMIM:617248
Lethal Congenital Contracture Syndrome 2
Respiratory failure, Micrognathia, Arthrogryposis multiplex congenita, Skeletal muscle atrophy OMIM:607598
Venular Insufficiency, Systemic
Cyanosis OMIM:192700
Sulfhemoglobinemia, Congenital
Cyanosis OMIM:185460
Acrorenal-Mandibular Syndrome
Missing ribs, Foot polydactyly, Micrognathia, Narrow chest, Hemivertebrae, Hip dislocation, Hypop... OMIM:200980
Pneumocystosis
Nonproductive cough, Respiratory failure requiring assisted ventilation, Hypoxemia, Interstitial ... ORPHA:723
Spondylodysplastic Ehlers-Danlos Syndrome
Generalized osteoporosis, Coronal cleft vertebrae, Abnormality of finger, Prominent scalp veins, ... ORPHA:536471
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Cupped ribs, Brachydactyly, Metaphyseal irregularity, Hypoplastic inferior ilia, Joint stiffness,... OMIM:608940
Lymphatic Malformation 8
Nonimmune hydrops fetalis, Pleural effusion, Polyhydramnios, Generalized edema, Stillbirth, Peric... OMIM:618773
Wieacker-Wolff Syndrome
Apnea, Dystonia, Short neck, Kyphosis, Facial palsy, Hyperlordosis, Micrognathia, Congenital foot... OMIM:314580
Mitochondrial Complex I Deficiency, Nuclear Type 11
Scoliosis, Myopathy, Kyphosis OMIM:618234
Multiple Enchondromatosis, Maffucci Type
Pathologic fracture OMIM:614569
Mucolipidosis Iii Gamma
Flat capital femoral epiphysis, Joint stiffness, Short neck, Kyphosis, Flared iliac wing, Hyperlo... OMIM:252605
Cutis Laxa-Marfanoid Syndrome
Emphysema, Flexion contracture, Congenital diaphragmatic hernia, Arachnodactyly, Limitation of jo... ORPHA:171719
Hypocalcemic Vitamin D-Dependent Rickets
Genu varum, Enlargement of the costochondral junction, Sparse bone trabeculae, Enamel hypoplasia,... ORPHA:289157
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Shoulder dislocation, Generalized osteoporosis, 11 pairs of ribs, Sandal gap, Osteoporosis, Micro... OMIM:245600
Grant Syndrome
Bowing of the long bones, Abnormality of pelvic girdle bone morphology, Decreased skull ossificat... ORPHA:2097
Juvenile Paget Disease
Cranial hyperostosis, Bowing of the long bones, Recurrent fractures, Osteoporosis, Abnormal clavi... ORPHA:2801
Atelosteogenesis, Type I
Coronal cleft vertebrae, Vertebral hypoplasia, 11 pairs of ribs, Thoracic platyspondyly, Microgna... OMIM:108720
Butyrylcholinesterase Deficiency
Respiratory failure, Respiratory failure requiring assisted ventilation ORPHA:132
Seizures, Benign Familial Infantile, 1
Cyanosis, Apnea OMIM:601764
Mosaic Trisomy 14
Short neck, Camptodactyly of finger, Abnormal rib morphology, Micrognathia, Narrow chest ORPHA:1703
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Kyphosis, Abnormality of the cervical spine, Intention tremor, Osteoporosis, Micrognathia, Scolio... ORPHA:48431
Cdags Syndrome
Lambdoidal craniosynostosis, Kyphosis, Coronal craniosynostosis, Short ribs, Sagittal craniosynos... OMIM:603116
Infantile Systemic Hyalinosis
Brachydactyly, Joint stiffness, Osteopenia, Recurrent fractures, Short palm, Short neck, Osteopor... ORPHA:2176
Carey-Fineman-Ziter Syndrome 1
Flexion contracture, Skeletal muscle atrophy, Tapered finger, Facial palsy, Micrognathia, Scolios... OMIM:254940
Desbuquois Dysplasia 1
Genu varum, Broad first metatarsal, Sandal gap, Broad femoral neck, Osteoporosis, Scoliosis, Shor... OMIM:251450
Myopathy, Myofibrillar, 7
Achilles tendon contracture, Thoracic kyphosis, Flexion contracture, Multiple joint contractures,... OMIM:617114
Hereditary Sensory And Autonomic Neuropathy Type 1
Foot dorsiflexor weakness, Cough, Poor wound healing, Osteomyelitis, Limb pain, Pathologic fractu... ORPHA:36386
Nestor-Guillermo Progeria Syndrome
Flexion contracture, Joint stiffness, Prominent superficial veins, Thin ribs, Osteolytic defects ... OMIM:614008
Osteogenesis Imperfecta-Retinopathy-Seizures-Intellectual Disability Syndrome
Recurrent fractures ORPHA:2773
X-Linked Charcot-Marie-Tooth Disease Type 5
Scoliosis, Kyphosis, Skeletal muscle hypertrophy, Tremor ORPHA:99014
Methemoglobinemia, Beta Type
Cyanosis OMIM:617971
Methemoglobinemia, Alpha Type
Cyanosis OMIM:617973
Brachyolmia Type 3
Clinodactyly, Kyphosis, Short neck, Short femoral neck, Proximal femoral metaphyseal irregularity... OMIM:113500
Myopathy, X-Linked, With Excessive Autophagy
Flexion contracture, Skeletal muscle atrophy, Proximal muscle weakness in lower limbs, Scoliosis,... OMIM:310440
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type
Kyphosis, Scoliosis, Hip dislocation, Small hand, Short foot OMIM:300434
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies
Micrognathia, Joint hypermobility, Abnormal rib morphology, Pectus excavatum, Hypoplastic distal ... OMIM:602196
Variant Abeta2M Amyloidosis
Knee pain, Wrist pain, Abnormal skeletal muscle morphology, Multiple bony cystic lesions, Patholo... ORPHA:314652
Mucopolysaccharidosis, Type Iva
Restrictive ventilatory defect, Coxa valga, Ovoid vertebral bodies, Kyphosis, Joint laxity, Hypop... OMIM:253000
Osteogenesis Imperfecta
Fractures of the long bones, Abnormal hip bone morphology, Cervical kyphosis, Osteoporosis, Decre... ORPHA:666
Simpson-Golabi-Behmel Syndrome, Type 1
Short greater sciatic notch, Diastasis recti, Macroglossia, Inguinal hernia, Scoliosis, Narrow gr... OMIM:312870
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
Proximal muscle weakness in upper limbs, Kyphosis, Proximal muscle weakness in lower limbs, Incre... OMIM:618138
Thanatophoric Dysplasia
Kyphosis, Platyspondyly, Abnormal sacroiliac joint morphology, Respiratory insufficiency, Pulmona... ORPHA:2655
Myopathy, Myosin Storage, Autosomal Recessive
Scapuloperoneal amyotrophy, EMG: myopathic abnormalities, Type 1 muscle fiber predominance, Scoli... OMIM:255160
Lissencephaly Type Iii And Bone Dysplasia
Pulmonary hypoplasia, Arthrogryposis multiplex congenita OMIM:601160
Progressive Pseudorheumatoid Dysplasia
Genu varum, Flattened epiphysis, Enlargement of the proximal femoral epiphysis, Joint contracture... OMIM:208230
Myopathy, Congenital, With Fiber-Type Disproportion
Congenital hip dislocation, Reduced forced vital capacity, Facial palsy, Limb joint contracture, ... OMIM:255310
Laryngotracheal Angioma
Cyanosis, Cough, Stridor, Respiratory distress, Apnea, Intercostal retractions, Wheezing ORPHA:137935
Spastic Paraplegia-Paget Disease Of Bone Syndrome
Bone pain, Recurrent fractures, Increased spinal bone density ORPHA:329475
Mucopolysaccharidosis, Type Ivb
Restrictive ventilatory defect, Coxa valga, Ovoid vertebral bodies, Kyphosis, Joint laxity, Hypop... OMIM:253010
Laryngotracheoesophageal Cleft
Cyanosis, Aspiration, Cough, Dyspnea, Recurrent respiratory infections, Stridor, Neonatal respira... ORPHA:2004
Arthrogryposis, Distal, Type 3
Distal arthrogryposis, Decreased hip abduction, Short neck, Short phalanx of finger, Congenital h... OMIM:114300
Myopathy, Tubular Aggregate, 1
Weakness of the intrinsic hand muscles, Type 2 muscle fiber atrophy, Flexion contracture, Increas... OMIM:160565
Combined Oxidative Phosphorylation Deficiency 51
Neonatal respiratory distress, Aspiration pneumonia, Respiratory failure OMIM:619057
Femoral-Facial Syndrome
Abnormal sacrum morphology, Abnormality of pelvic girdle bone morphology, Preaxial foot polydacty... ORPHA:1988
Shprintzen-Goldberg Syndrome
Bowing of the long bones, Apnea, Missing ribs, Craniosynostosis, Camptodactyly of finger, Osteope... ORPHA:2462
Ciliary Dyskinesia, Primary, 5
Recurrent pneumonia, Respiratory insufficiency due to defective ciliary clearance, Chronic bronch... OMIM:608647
Osteoporosis-Pseudoglioma Syndrome
Osteopenia, Abnormal lower limb bone morphology, Joint laxity, Osteoporosis, Increased susceptibi... ORPHA:2788
Vacterl Association With Hydrocephalus
Absent thumb, Abnormality of the vertebral column, Radial club hand, Respiratory failure, Abnorma... OMIM:276950
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis
Kyphoscoliosis, Thoracolumbar kyphosis OMIM:236660
Spondyloepiphyseal Dysplasia Congenita
Knee pain, Abnormal respiratory system physiology, Osteoporosis, Micrognathia, Scoliosis, Genu va... ORPHA:94068
Mucopolysaccharidosis Type 6
Sinusitis, Joint stiffness, Short neck, Ovoid vertebral bodies, Kyphosis, Hernia, Macroglossia, A... ORPHA:583
Serkal Syndrome
Congenital diaphragmatic hernia, Pulmonary hypoplasia ORPHA:139466
Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant
Avascular necrosis of the capital femoral epiphysis, Short neck, Cervical subluxation, Hypoplasia... OMIM:184100
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
Short 5th metacarpal, 11 pairs of ribs, Clinodactyly of the 5th finger, Sandal gap, Pectus excava... OMIM:617877
Osteogenesis Imperfecta, Type Iv
Kyphosis, Recurrent fractures, Biconcave flattened vertebrae, Increased susceptibility to fractur... OMIM:166220
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Abnormal hip bone morphology, Joint stiffness, Congenital diaphragmatic hernia, Micrognathia, Res... ORPHA:1166
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome
Fractures of the long bones, Recurrent pneumonia, Respiratory failure requiring assisted ventilat... ORPHA:496641
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Abnormal hip bone morphology, Short neck, Kyphosis, Hyperlordosis, Abnormal clavicle morphology, ... ORPHA:2522
Ruvalcaba Syndrome
Kyphosis, Short palm, Short metacarpal, Short phalanx of finger, Limited elbow extension, Microme... OMIM:180870
Familial Expansile Osteolysis
Bowing of the long bones, Thin bony cortex, Osteolysis, Pathologic fracture, Bone pain OMIM:174810
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome