Exercise Intolerance, Riboflavin-Responsive |
|
Ragged-red muscle fibers |
OMIM:616839 |
Klippel-Feil Syndrome 3, Autosomal Dominant |
|
Cervical C5/C6 vertebrae fusion, Cervical C3/C4 vertebral fusion, Thoracic scoliosis |
OMIM:613702 |
Thoracomelic Dysplasia |
|
Short ribs, Bell-shaped thorax |
OMIM:273740 |
Thoracic Dysostosis, Isolated |
|
Pectus excavatum, Bell-shaped thorax, Short ribs |
OMIM:187750 |
Arthrogryposis, Distal, With Mental Retardation And Characteristic Facies |
|
Narrow chest, Respiratory insufficiency, Distal arthrogryposis, Arthrogryposis multiplex congenit... |
OMIM:208081 |
Cervical Rib |
|
Cervical ribs |
OMIM:117900 |
Tubular Aggregate Myopathy |
|
EMG: myopathic abnormalities, Type 2 muscle fiber atrophy, Increased variability in muscle fiber ... |
ORPHA:2593 |
Vertebral Fusion, Posterior Lumbosacral, With Blepharoptosis |
|
Posterior fusion of lumbosacral vertebrae |
OMIM:192800 |
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly |
|
Narrow chest, Acetabular spurs, Short ribs, Trident acetabulum, Brachydactyly, Postaxial hand pol... |
OMIM:617405 |
Myopathy, Distal, With Rimmed Vacuoles |
|
Internally nucleated skeletal muscle fibers, Z-band streaming, EMG: myopathic abnormalities, Rimm... |
OMIM:617158 |
Spinal Muscular Atrophy, Type Iv |
|
Muscle fiber necrosis, Quadriceps muscle atrophy, Angulated muscle fibers, Calf muscle hypertroph... |
OMIM:271150 |
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 3 |
|
Increased endomysial connective tissue, Proximal muscle weakness in lower limbs, Rimmed vacuoles,... |
OMIM:615424 |
Inclusion Body Myopathy And Brain White Matter Abnormalities |
|
Increased endomysial connective tissue, Angulated muscle fibers, Proximal muscle weakness in lowe... |
OMIM:619733 |
Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant |
|
Internally nucleated skeletal muscle fibers, Z-band streaming, Rimmed vacuoles, Increased variabi... |
OMIM:618655 |
Myopathy, Distal, 7, Adult-Onset, X-Linked |
|
Proximal muscle weakness in lower limbs, Scapular winging, Increased variability in muscle fiber ... |
OMIM:301075 |
Tibial Muscular Dystrophy |
|
Proximal muscle weakness in lower limbs, EMG: myopathic abnormalities, Quadriceps muscle weakness... |
ORPHA:609 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26 |
|
Muscle fiber necrosis, Proximal muscle weakness in lower limbs, Calf muscle hypertrophy, Increase... |
OMIM:618848 |
Chondrocalcinosis Due To Apatite Crystal Deposition |
|
Intervertebral disk calcification, Osteoarthritis of the small joints of the hand, Costal cartila... |
OMIM:118610 |
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2 |
|
Flexion contracture, EMG: myopathic abnormalities, Muscular dystrophy, Pelvic girdle muscle weakn... |
OMIM:608423 |
Poland Syndrome |
|
Sprengel anomaly, Rib fusion, Unilateral oligodactyly, Short ribs, Unilateral absence of pectoral... |
OMIM:173800 |
Polyglucosan Body Myopathy 2 |
|
Peroneal muscle weakness, Hand muscle weakness, Pelvic girdle amyotrophy, Limb-girdle muscle weak... |
OMIM:616199 |
Thoracopelvic Dysostosis |
|
Short ribs |
OMIM:187770 |
Spinal Muscular Atrophy, Lower Extremity-Predominant, 1, Autosomal Dominant |
|
Proximal muscle weakness in lower limbs, Proximal lower limb amyotrophy, Type 2 muscle fiber pred... |
OMIM:158600 |
Vacuolar Neuromyopathy |
|
Muscular dystrophy, Rimmed vacuoles, Foot dorsiflexor weakness, Muscle fiber splitting, Shoulder ... |
OMIM:601846 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 15 |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Myopathy |
OMIM:618992 |
Central Core Disease Of Muscle |
|
Nemaline bodies, Ankle flexion contracture, Weakness of facial musculature, Increased variability... |
OMIM:117000 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8 |
|
Pelvic girdle muscle atrophy, EMG: myopathic abnormalities, Quadriceps muscle weakness, Increased... |
OMIM:254110 |
Myopathy, Distal, 5 |
|
Rimmed vacuoles, Distal amyotrophy, Muscle fiber splitting, Facial palsy, Myopathy |
OMIM:617030 |
Muscular Dystrophy, Limb-Girdle, Type 1H |
|
Calf muscle hypertrophy, Muscular dystrophy, Centrally nucleated skeletal muscle fibers, Shoulder... |
OMIM:613530 |
Myopathy, Scapulohumeroperoneal |
|
Nemaline bodies, Facial palsy, Hand muscle atrophy, Increased variability in muscle fiber diamete... |
OMIM:616852 |
Inclusion Body Myositis |
|
Abnormal muscle fiber morphology, Quadriceps muscle weakness, Rimmed vacuoles, Ragged-red muscle ... |
ORPHA:611 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7 |
|
Proximal muscle weakness in lower limbs, Calf muscle hypertrophy, Muscular dystrophy, Increased v... |
OMIM:601954 |
Nonaka Myopathy |
|
EMG: myopathic abnormalities, Rimmed vacuoles, Distal amyotrophy, Deposits immunoreactive to beta... |
OMIM:605820 |
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia |
|
Coxa vara, Metaphyseal dysplasia, Metaphyseal irregularity, Flexion contracture, Short ribs, Abno... |
OMIM:613330 |
Gne Myopathy |
|
EMG: myopathic abnormalities, Rimmed vacuoles, Increased variability in muscle fiber diameter, Ab... |
ORPHA:602 |
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A |
|
Increased endomysial connective tissue, Reduced vital capacity, Limited knee flexion/extension, E... |
ORPHA:266 |
Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome |
|
Joint stiffness, Posterior fusion of lumbosacral vertebrae, Abnormal form of the vertebral bodies... |
ORPHA:2064 |
Metatropic Dysplasia |
|
Enlarged joints, Halberd-shaped pelvis, Cone-shaped epiphysis, Hyperplasia of the femoral trochan... |
OMIM:156530 |
Myopathy, Centronuclear, 1 |
|
Flexion contracture, Skeletal muscle hypertrophy, EMG: myopathic abnormalities, Facial palsy, Pro... |
OMIM:160150 |
Welander Distal Myopathy |
|
Rimmed vacuoles, Distal amyotrophy |
OMIM:604454 |
Neurogenic Thoracic Outlet Syndrome |
|
Abnormal rib morphology |
ORPHA:100073 |
Thanatophoric Dysplasia, Type Ii |
|
Narrow chest, Wide-cupped costochondral junctions, Small abnormally formed scapulae, Metaphyseal ... |
OMIM:187601 |
Oculopharyngodistal Myopathy 2 |
|
Increased endomysial connective tissue, EMG: myopathic abnormalities, Rimmed vacuoles, Increased ... |
OMIM:618940 |
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3 |
|
Rimmed vacuoles, Pelvic girdle muscle weakness, Proximal upper limb amyotrophy, Proximal lower li... |
OMIM:609115 |
Myopathy, Congenital Proximal, With Minicore Lesions |
|
Z-band streaming, Minicore myopathy, Type 1 muscle fiber predominance, Fatty replacement of skele... |
OMIM:618823 |
Isolated Klippel-Feil Syndrome |
|
Sprengel anomaly, Cervical C2/C3 vertebral fusion, Abnormal vertebral segmentation and fusion, Sh... |
ORPHA:2345 |
Sternum, Premature Obliteration Of Sutures Of |
|
Premature sternal synostosis, Micrognathia, Short sternum |
OMIM:184800 |
Myofibrillar Myopathy 11 |
|
Z-band streaming, EMG: myopathic abnormalities, Calf muscle hypertrophy, Increased variability in... |
OMIM:619178 |
Kyphomelic Dysplasia |
|
Narrow chest, Joint stiffness, Undulate ribs, Micrognathia, Anterior rib cupping, Micromelia, Sho... |
ORPHA:1801 |
Lethal Congenital Contracture Syndrome 3 |
|
Multiple joint contractures, Respiratory insufficiency, Neonatal death, Arthrogryposis multiplex ... |
OMIM:611369 |
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset |
|
Increased variability in muscle fiber diameter, Flexion contracture |
OMIM:300717 |
Myopathy, Myosin Storage, Autosomal Dominant |
|
EMG: myopathic abnormalities, Scapular winging, Pelvic girdle muscle weakness, Calf muscle pseudo... |
OMIM:608358 |
Ophthalmoplegia, External, With Rib And Vertebral Anomalies |
|
Torticollis, Pectus excavatum, Short ribs, Pseudoarthrosis, Missing ribs |
OMIM:618155 |
Klippel-Feil Syndrome 2, Autosomal Recessive |
|
Cervical C2/C3 vertebral fusion, Sprengel anomaly, Short neck, Scoliosis, Fused cervical vertebrae |
OMIM:214300 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 21 |
|
Proximal muscle weakness in lower limbs, Respiratory insufficiency, Scapular winging |
OMIM:617232 |
Endosteal Hyperostosis, Worth Type |
|
Clavicular sclerosis, Abnormal form of the vertebral bodies, Abnormal rib morphology, Generalized... |
ORPHA:2790 |
Thoracomelic Dysplasia |
|
Narrow chest, Short ribs, Bell-shaped thorax, Abnormality of fibula morphology, Limb undergrowth,... |
ORPHA:1803 |
Microcephaly With Cervical Spine Fusion Anomalies |
|
Vertebral fusion, Spinal instability |
OMIM:251250 |
Hereditary Myopathy With Early Respiratory Failure |
|
Hypertrophied muscle fibers, Internally nucleated skeletal muscle fibers, Calf muscle hypertrophy... |
ORPHA:178464 |
Spondylocostal Dysostosis 5 |
|
Butterfly vertebrae, Hemivertebrae, Short neck, Posterior rib fusion, Scoliosis, Pectus carinatum... |
OMIM:122600 |
Cardiomyopathy, Dilated, 3B |
|
Increased variability in muscle fiber diameter |
OMIM:302045 |
Myopathy, Centronuclear, 4 |
|
Centrally nucleated skeletal muscle fibers |
OMIM:614807 |
Spondylocostal Dysostosis 1, Autosomal Recessive |
|
Vertebral segmentation defect, Rib fusion, Kyphoscoliosis, Back pain, Hemivertebrae, Short neck, ... |
OMIM:277300 |
Thoracolaryngopelvic Dysplasia |
|
Irregular chondrocostal junctions, Short ribs, Metaphyseal widening, Bell-shaped thorax, Narrow p... |
OMIM:187760 |
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome |
|
Abnormal sacrum morphology, Fused cervical vertebrae, Thoracic hemivertebrae, Scoliosis |
ORPHA:1436 |
Dnajb6-Related Limb-Girdle Muscular Dystrophy D1 |
|
Abnormal muscle fiber morphology, Rimmed vacuoles, Increased variability in muscle fiber diameter... |
ORPHA:34516 |
Spondylocostal Dysostosis 4, Autosomal Recessive |
|
Vertebral segmentation defect, Rib fusion, Hemivertebrae, Spina bifida occulta, Abnormal rib morp... |
OMIM:613686 |
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B |
|
Flexion contracture, Fused thoracic vertebrae, Short neck, Scoliosis, Fused cervical vertebrae, T... |
OMIM:618469 |
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome |
|
Scoliosis, Pectus carinatum, Radioulnar synostosis, Abnormal rib morphology, Abnormality of the e... |
ORPHA:3268 |
Thoracic Dysplasia-Hydrocephalus Syndrome |
|
Narrow chest, Short ribs, Respiratory insufficiency, Limb undergrowth, Respiratory failure, Thora... |
OMIM:273730 |
Granulomas, Congenital Cerebral |
|
Neonatal death |
OMIM:306300 |
Genitourinary Tract Anomalies |
|
Neonatal death |
OMIM:305690 |
Distal Myopathy, Welander Type |
|
Intrinsic hand muscle atrophy, EMG: myopathic abnormalities, Rimmed vacuoles, Foot dorsiflexor we... |
ORPHA:603 |
Inclusion Body Myositis |
|
Rimmed vacuoles, Inflammatory myopathy |
OMIM:147421 |
Hyperparathyroidism, Transient Neonatal |
|
Narrow chest, Thin ribs, Short ribs, Femoral bowing, Osteopenia |
OMIM:618188 |
Myopathy, Myofibrillar, 5 |
|
Myofibrillar myopathy, Muscle fiber splitting, Muscle fiber cytoplasmatic inclusion bodies |
OMIM:609524 |
Spinal Muscular Atrophy, Infantile, James Type |
|
Hip contracture, Increased variability in muscle fiber diameter, Type 1 muscle fiber predominance... |
OMIM:619042 |
Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency |
|
Increased variability in muscle fiber diameter, Congenital muscular dystrophy, Fatty replacement ... |
OMIM:613204 |
Chondrodysplasia, Blomstrand Type |
|
Advanced ossification of carpal bones, Short ribs, Micrognathia, Flared metaphysis, Micromelia, G... |
OMIM:215045 |
Mental Retardation, Skeletal Dysplasia, And Abducens Palsy |
|
Thoracic hemivertebrae, Fused cervical vertebrae, Prominent metopic ridge, Scoliosis |
OMIM:309620 |
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 2 |
|
Muscle fiber atrophy, Rimmed vacuoles, Myositis, Centrally nucleated skeletal muscle fibers, Skel... |
OMIM:615422 |
Salih Myopathy |
|
Flexion contracture, Calf muscle hypertrophy, Facial palsy, Centrally nucleated skeletal muscle f... |
OMIM:611705 |
Facioscapulohumeral Muscular Dystrophy 3, Digenic |
|
Shoulder girdle muscle weakness, Weakness of facial musculature, Angulated muscle fibers, Scapula... |
OMIM:619477 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2 |
|
EMG: myopathic abnormalities, Muscular dystrophy, Increased variability in muscle fiber diameter,... |
OMIM:253601 |
Achondrogenesis, Type Ib |
|
Narrow chest, Short ribs, Hypoplastic ilia, Respiratory insufficiency, Micromelia, Absent or mini... |
OMIM:600972 |
Trim32-Related Limb-Girdle Muscular Dystrophy R8 |
|
Proximal muscle weakness in lower limbs, Increased variability in muscle fiber diameter, Myopathy |
ORPHA:1878 |
Fibrochondrogenesis 2 |
|
Metaphyseal cupping, Short ribs, Hypoplastic ilia, Metaphyseal widening, Micrognathia, Hypoplasti... |
OMIM:614524 |
Pomt1-Related Limb-Girdle Muscular Dystrophy R11 |
|
Thigh hypertrophy, Calf muscle hypertrophy, Left ventricular hypertrophy, Increased variability i... |
ORPHA:86812 |
Cardiomyopathy, Dilated, 1X |
|
Calf muscle hypertrophy, Increased variability in muscle fiber diameter |
OMIM:611615 |
Spondylocostal Dysostosis 3, Autosomal Recessive |
|
Vertebral segmentation defect, Rib fusion, Kyphosis, Supernumerary vertebral ossification centers... |
OMIM:609813 |
Muscular Dystrophy, Congenital, Merosin-Positive |
|
Flexion contracture, Increased variability in muscle fiber diameter, Congenital muscular dystroph... |
OMIM:609456 |
Wildervanck Syndrome |
|
Fused cervical vertebrae |
OMIM:314600 |
Myopathy, Autophagic Vacuolar, Infantile-Onset |
|
Autophagic vacuoles, Myopathy |
OMIM:609500 |
Microcephaly-Cervical Spine Fusion Anomalies Syndrome |
|
Kyphosis, Abnormal clavicle morphology, Pectus excavatum, Short neck, Hyperlordosis, Abnormal rib... |
ORPHA:2522 |
Infantile-Onset X-Linked Spinal Muscular Atrophy |
|
Respiratory distress, Hip contracture, Abnormal muscle fiber morphology, Short ribs, Weakness of ... |
ORPHA:1145 |
Axial Spondylometaphyseal Dysplasia |
|
Osteopenia, Upper limb undergrowth, Flared, irregular rib ends, Thoracic hypoplasia, Narrow great... |
ORPHA:168549 |
Parana Hard-Skin Syndrome |
|
Respiratory insufficiency, Restricted chest movement |
OMIM:260530 |
Acrocapitofemoral Dysplasia |
|
Cone-shaped epiphyses of the phalanges of the hand, Pectus excavatum, Hypoplasia of the radius, C... |
OMIM:607778 |
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods |
|
Nemaline bodies, Widening of cervical spinal canal, Cervical vertebral bodies with decreased ante... |
OMIM:606842 |
Sprengel Deformity |
|
Sprengel anomaly, Neck muscle hypoplasia, Hemivertebrae, Shoulder muscle hypoplasia, Scoliosis, S... |
OMIM:184400 |
Tibial Muscular Dystrophy, Tardive |
|
EMG: myopathic abnormalities, Muscular dystrophy, Rimmed vacuoles |
OMIM:600334 |
Nemaline Myopathy 6 |
|
Nemaline bodies, Limb muscle weakness, Myopathy |
OMIM:609273 |
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type |
|
Narrow chest, Metaphyseal cupping, Severe limb shortening, Thin ribs, Short ribs, Decreased crani... |
OMIM:151210 |
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12 |
|
Flexion contracture of finger, Increased endomysial connective tissue, Proximal muscle weakness i... |
ORPHA:206549 |
Myopathy, Myofibrillar, 3 |
|
Myofibrillar myopathy, Achilles tendon contracture, Muscle fiber cytoplasmatic inclusion bodies, ... |
OMIM:609200 |
Multiple Synostoses Syndrome 2 |
|
Carpal synostosis, Vertebral fusion, Proximal symphalangism, Tarsal synostosis, Humeroradial syno... |
OMIM:610017 |
Muscular Dystrophy, Pseudohypertrophic, With Internalized Capillaries |
|
Muscular dystrophy, Central core regions in muscle fibers |
OMIM:159050 |
Achondrogenesis Type 2 |
|
Narrow chest, Abnormal bone ossification, Short ribs, Delayed proximal femoral epiphyseal ossific... |
ORPHA:93296 |
Klippel-Feil Syndrome 1, Autosomal Dominant |
|
Sprengel anomaly, Cervical C2/C3 vertebral fusion, Abnormal vertebral segmentation and fusion, Sh... |
OMIM:118100 |
Spondylocostal Dysostosis 2, Autosomal Recessive |
|
Vertebral segmentation defect, Rib fusion, Vertebral clefting, Hemivertebrae, Short neck |
OMIM:608681 |
Alpha-B Crystallin-Related Late-Onset Myopathy |
|
Facial diplegia, EMG: myopathic abnormalities, Increased variability in muscle fiber diameter, Li... |
ORPHA:399058 |
Dysosteosclerosis |
|
Short sternum, Osteopenia, Broad ribs, Sclerotic scapulae, Delayed closure of the anterior fontan... |
OMIM:224300 |
Myopathy, Isolated Mitochondrial, Autosomal Dominant |
|
Proximal muscle weakness in lower limbs, Ragged-red muscle fibers, Facial palsy |
OMIM:616209 |
Diaphanospondylodysostosis |
|
Enlarged thorax, Abnormal vertebral segmentation and fusion, Short neck, Absent or minimally ossi... |
ORPHA:66637 |
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance |
|
Proximal muscle weakness in lower limbs, Weakness of facial musculature, Increased intramyocellul... |
ORPHA:457050 |
Lethal Congenital Contracture Syndrome 4 |
|
Multiple joint contractures, Flexion contracture, Respiratory insufficiency, Distal arthrogryposi... |
OMIM:614915 |
Distal Myopathy, Tateyama Type |
|
Intrinsic hand muscle atrophy, EMG: myopathic abnormalities, Increased variability in muscle fibe... |
ORPHA:488650 |
Spondylometaphyseal Dysplasia With Corneal Dystrophy |
|
Narrow chest, Short ribs, Metaphyseal widening, Death in childhood, Brachydactyly, Limb undergrow... |
OMIM:618961 |
Muscular Dystrophy, Congenital, Davignon-Chauveau Type |
|
Muscular dystrophy, Centrally nucleated skeletal muscle fibers |
OMIM:617066 |
Oculopharyngeal Muscular Dystrophy |
|
Ragged-red muscle fibers, Rimmed vacuoles, Abnormal muscle fiber morphology, Myopathy |
ORPHA:270 |
Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Metaphyseal irregularity, Delayed epiphyseal ossification, Coxa vara, Narrow greater sciatic notc... |
OMIM:602557 |
Spondylocostal Dysostosis 6, Autosomal Recessive |
|
Spinal canal stenosis, Butterfly vertebrae, Hemivertebrae, Scoliosis, Cervical kyphosis |
OMIM:616566 |
Spinal Muscular Atrophy, Type I |
|
Proximal muscle weakness in lower limbs, Respiratory insufficiency, Death in childhood, Spinal mu... |
OMIM:253300 |
Mitochondrial Myopathy With Diabetes |
|
EMG: myopathic abnormalities, Weakness of orbicularis oculi muscle, Ragged-red muscle fibers, Lim... |
OMIM:500002 |
Distal Myopathy With Anterior Tibial Onset |
|
Intrinsic hand muscle atrophy, Finger flexor weakness, Limb-girdle muscle weakness, Weakness of t... |
ORPHA:178400 |
Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures |
|
Muscular dystrophy, Increased endomysial connective tissue, Ankle flexion contracture, Flexion co... |
OMIM:617072 |
Heart Defects-Limb Shortening Syndrome |
|
Narrow chest, Kyphosis, Accelerated skeletal maturation, Abnormal form of the vertebral bodies, A... |
ORPHA:1354 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25 |
|
Muscle fiber necrosis, Muscular dystrophy, Increased variability in muscle fiber diameter, Limb-g... |
OMIM:616812 |
Myopathy, X-Linked, With Postural Muscle Atrophy |
|
Hamstring contractures, Skeletal muscle hypertrophy, EMG: myopathic abnormalities, Rimmed vacuole... |
OMIM:300696 |
Arthrogryposis Multiplex Congenita 3, Myogenic Type |
|
Flexion contracture of finger, Increased endomysial connective tissue, Flexion contracture, Weakn... |
OMIM:618484 |
Bethlem Myopathy 2 |
|
Myopathy, Scapular winging, Increased variability in muscle fiber diameter, Flexion contracture |
OMIM:616471 |
Myh7-Related Late-Onset Scapuloperoneal Muscular Dystrophy |
|
Hand muscle weakness, Increased endomysial connective tissue, Triceps weakness, EMG: myopathic ab... |
ORPHA:437572 |
Benign Samaritan Congenital Myopathy |
|
Centrally nucleated skeletal muscle fibers, Internally nucleated skeletal muscle fibers |
ORPHA:324581 |
Miyoshi Muscular Dystrophy 1 |
|
Deposits immunoreactive to beta-amyloid protein, Muscular dystrophy, Lower limb muscle weakness, ... |
OMIM:254130 |
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome |
|
Abnormal rib morphology |
ORPHA:2435 |
Minicore Myopathy With External Ophthalmoplegia |
|
Nemaline bodies, Muscular dystrophy, Increased variability in muscle fiber diameter, Type 1 and t... |
OMIM:255320 |
Myopathy, Congenital, With Structured Cores And Z-Line Abnormalities |
|
Muscle fiber atrophy, Abnormal Z disc morphology, Internally nucleated skeletal muscle fibers, We... |
OMIM:618654 |
Muscular Dystrophy, Congenital, 1B |
|
Generalized muscle hypertrophy, Pectoralis amyotrophy, Congenital muscular dystrophy, Sternocleid... |
OMIM:604801 |
Nemaline Myopathy 9 |
|
Narrow chest, Micrognathia, Respiratory insufficiency, Arthrogryposis multiplex congenita |
OMIM:615731 |
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset |
|
Rimmed vacuoles, Increased variability in muscle fiber diameter, Muscle fiber intracytoplasmic re... |
OMIM:300718 |
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related |
|
Apnea, Flexion contracture, Muscular dystrophy, Respiratory insufficiency, Respiratory failure |
OMIM:613869 |
Spondylometaphyseal Dysplasia, X-Linked |
|
Enlarged joints, Hip contracture, Sclerosis of skull base, Hyperextensibility of the finger joint... |
OMIM:313420 |
Rigid Spine Muscular Dystrophy 1 |
|
Increased endomysial connective tissue, Flexion contracture, Muscular dystrophy, Increased variab... |
OMIM:602771 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27 |
|
Skeletal muscle hypertrophy, Proximal muscle weakness in lower limbs, Weakness of facial musculat... |
OMIM:619566 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15 |
|
Limb-girdle muscular dystrophy, Rimmed vacuoles, Increased variability in muscle fiber diameter, ... |
OMIM:612937 |
Myasthenic Syndrome, Congenital, 13 |
|
Muscle fiber tubular inclusions |
OMIM:614750 |
Asymmetric Short Stature Syndrome |
|
Lumbar scoliosis, Fused cervical vertebrae |
OMIM:108450 |
Hypotonia, Infantile, With Psychomotor Retardation |
|
Increased variability in muscle fiber diameter, Myopathy |
OMIM:616816 |
X-Linked Centronuclear Myopathy |
|
Necklace skeletal muscle fibers, Weakness of facial musculature, Centrally nucleated skeletal mus... |
ORPHA:596 |
Seckel Syndrome 4 |
|
11 pairs of ribs, Steep acetabular roof |
OMIM:613676 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Cc |
|
Rimmed vacuoles, Increased variability in muscle fiber diameter, Lower limb amyotrophy, Lower lim... |
OMIM:616924 |
Proximal Myopathy With Extrapyramidal Signs |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Centr... |
ORPHA:401768 |
Dextrocardia With Unusual Facies And Microphthalmia |
|
Vertebral segmentation defect, Supernumerary ribs, Vertebral fusion |
OMIM:221950 |
Metatropic Dysplasia |
|
Narrow chest, Joint stiffness, Kyphosis, Coarse metaphyseal trabecularization, Camptodactyly of f... |
ORPHA:2635 |
Familial Congenital Mirror Movements |
|
Fused cervical vertebrae |
ORPHA:238722 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 2 |
|
EMG: myopathic abnormalities, Facial palsy, Ragged-red muscle fibers |
OMIM:609283 |
Myopathy, Tubular Aggregate, 1 |
|
Flexion contracture, Type 2 muscle fiber atrophy, Increased variability in muscle fiber diameter,... |
OMIM:160565 |
Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly |
|
Narrow chest, Short ribs, Brachydactyly, Polydactyly, Short long bone |
OMIM:613819 |
Nemaline Myopathy 8 |
|
Nemaline bodies, Flexion contracture, Myofibrillar myopathy, Death in infancy, Facial palsy, Resp... |
OMIM:615348 |
Myopathy, Areflexia, Respiratory Distress, And Dysphagia, Early-Onset |
|
Respiratory distress, Muscle fiber necrosis, Pectus excavatum, EMG: myopathic abnormalities, Camp... |
OMIM:614399 |
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Narrow chest, Respiratory distress, Postaxial polydactyly, Hypoplasia of the radius, Hypoplastic ... |
OMIM:617895 |
Myopathy, Myofibrillar, 9, With Early Respiratory Failure |
|
Reduced vital capacity, Calf muscle hypertrophy, Quadriceps muscle weakness, Increased variabilit... |
OMIM:603689 |
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability |
|
Ankle clonus, Hand muscle atrophy, Hypoplasia of the capital femoral epiphysis, Limb muscle weakn... |
OMIM:600561 |
Achondrogenesis, Type Ii |
|
Short ribs, Barrel-shaped chest, Short tubular bones of the hand, Absent vertebral body mineraliz... |
OMIM:200610 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5 |
|
Muscle fiber necrosis, Increased endomysial connective tissue, Flexion contracture, Right ventric... |
OMIM:253700 |
Bone Dysplasia, Lethal Holmgren Type |
|
Narrow chest, Abnormality of femur morphology, Metaphyseal dysplasia, Joint dislocation, Short ri... |
ORPHA:1842 |
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4 |
|
Scapular winging, Muscle fiber splitting, Myopathy, Proximal amyotrophy |
OMIM:618129 |
Alpha-Dystroglycan-Related Limb-Girdle Muscular Dystrophy R16 |
|
Reduced muscle fiber alpha dystroglycan, Calf muscle hypertrophy, Calf muscle pseudohypertrophy, ... |
ORPHA:280333 |
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome |
|
Multiple joint contractures, EMG: myopathic abnormalities, Minicore myopathy, Increased variabili... |
ORPHA:486815 |
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant |
|
Flexion contracture, Micrognathia, Overlapping fingers, Congenital hip dislocation, Respiratory f... |
OMIM:618291 |
Pontocerebellar Hypoplasia, Type 1C |
|
Flexion contracture, Respiratory insufficiency, Spinal muscular atrophy, Respiratory failure, Ske... |
OMIM:616081 |
Schneckenbecken Dysplasia |
|
Narrow chest, Metaphyseal irregularity, Advanced ossification of carpal bones, Lateral clavicle h... |
OMIM:269250 |
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis |
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Joint swelling, Periostitis, Osteomyelitis, Osteopenia, Fused cervical vertebrae, Osteolysis, Fla... |
OMIM:612852 |
Oculopharyngodistal Myopathy 3 |
|
Increased endomysial connective tissue, Internally nucleated skeletal muscle fibers, Weakness of ... |
OMIM:619473 |
Osteogenesis Imperfecta, Type Ix |
|
Recurrent fractures, Kyphosis, Pectus excavatum, Decreased calvarial ossification, Platyspondyly,... |
OMIM:259440 |
Second Metatarsal-Metacarpal Syndrome |
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Platyspondyly, Synostosis of carpals/tarsals |
OMIM:269630 |
Myopathy, Myosin Storage, Autosomal Recessive |
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EMG: myopathic abnormalities, Calf muscle hypertrophy, Limb-girdle muscle weakness, Type 1 muscle... |
OMIM:255160 |
Congenital Muscular Dystrophy, Ullrich Type |
|
Torticollis, Increased endomysial connective tissue, Abnormal muscle fiber morphology, Slender fi... |
ORPHA:75840 |
Heyn-Sproul-Jackson Syndrome |
|
Broad metacarpals, Broad phalanx, 11 pairs of ribs, Short phalanx of finger, Short metacarpal |
OMIM:618724 |
Lower Motor Neuron Syndrome With Late-Adult Onset |
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Intrinsic hand muscle atrophy, Proximal muscle weakness in lower limbs, EMG: myopathic abnormalit... |
ORPHA:276435 |
Spondylometaphyseal Dysplasia, A4 Type |
|
Platyspondyly, Flared, irregular rib ends, Limitation of joint mobility |
ORPHA:168555 |
Kniest Dysplasia |
|
Enlarged joints, Joint stiffness, Laryngotracheomalacia, Flexion contracture of finger, Anterior ... |
ORPHA:485 |
Thanatophoric Dysplasia, Type I |
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Narrow chest, Wide-cupped costochondral junctions, Metaphyseal irregularity, Small abnormally for... |
OMIM:187600 |
Adult-Onset Nemaline Myopathy |
|
Nemaline bodies, Flexion contracture, EMG: myopathic abnormalities, Increased variability in musc... |
ORPHA:171442 |
Spondylometaphyseal Dysplasia, Type A4 |
|
Sclerotic humeral metaphysis, Metaphyseal irregularity, Irregular capital femoral epiphysis, Broa... |
OMIM:609052 |
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked |
|
Myopathy, Type 1 fibers relatively smaller than type 2 fibers, Facial palsy, Frontalis muscle wea... |
OMIM:300580 |
Merrf |
|
Ragged-red muscle fibers, Myopathy |
ORPHA:551 |
Myopathy, Congenital, With Fiber-Type Disproportion |
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Limb joint contracture, Type 1 fibers relatively smaller than type 2 fibers, Centrally nucleated ... |
OMIM:255310 |
Achondrogenesis, Type Ia |
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Hypoplastic sacrum, Hypoplasia of the radius, Barrel-shaped chest, Micromelia, Severe limb shorte... |
OMIM:200600 |
Oculopharyngodistal Myopathy 4 |
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Weakness of facial musculature, Rimmed vacuoles, Increased variability in muscle fiber diameter, ... |
OMIM:619790 |
Myasthenic Syndrome, Congenital, 8 |
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Narrow chest, Respiratory insufficiency, Facial palsy |
OMIM:615120 |
Fibrochondrogenesis 1 |
|
Rhizomelia, Dumbbell-shaped long bone, Posterior rib cupping, Short long bone, Thoracic hypoplasi... |
OMIM:228520 |
Arthrogryposis Multiplex Congenita 6 |
|
Nemaline bodies, Adducted thumb, Death in childhood, Increased variability in muscle fiber diamet... |
OMIM:619334 |
Amyotrophic Lateral Sclerosis 20 |
|
Rimmed vacuoles, Muscle fiber inclusion bodies, Muscular dystrophy |
OMIM:615426 |
Multiple Synostoses Syndrome 1 |
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Pectus excavatum, Short sternum, Clinodactyly of the 4th toe, Symphalangism affecting the phalang... |
OMIM:186500 |
Frontometaphyseal Dysplasia 1 |
|
Craniosynostosis, Increased density of long bone diaphyses, Scapular winging, Genu valgum, Partia... |
OMIM:305620 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23 |
|
Internally nucleated skeletal muscle fibers, Proximal muscle weakness in lower limbs, Calf muscle... |
OMIM:618138 |
Finnish Upper Limb-Onset Distal Myopathy |
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Intrinsic hand muscle atrophy, Amyotrophy of ankle musculature, Joint contracture of the hand, EM... |
ORPHA:399086 |
Pallister-Hall-Like Syndrome |
|
Short ribs, Micrognathia, Micromelia, Postaxial hand polydactyly, Death in infancy, Hip dislocati... |
OMIM:241800 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 3 |
|
Increased endomysial connective tissue, Skeletal muscle hypertrophy, Calf muscle hypertrophy, Mus... |
OMIM:613157 |
Nemaline Myopathy 2 |
|
Nemaline bodies, Flexion contracture, Weakness of facial musculature, EMG: myopathic abnormalitie... |
OMIM:256030 |
Myopathy, Centronuclear, 6, With Fiber-Type Disproportion |
|
Calf muscle hypertrophy, Rimmed vacuoles, Skeletal muscle atrophy |
OMIM:617760 |
Myopathy, Myofibrillar, 2 |
|
EMG: myopathic abnormalities, Muscular dystrophy, Limb-girdle muscle weakness, Foot dorsiflexor w... |
OMIM:608810 |
Wildervanck Syndrome |
|
Fused cervical vertebrae, Short neck |
ORPHA:3456 |
Moderate Multiminicore Disease With Hand Involvement |
|
Intrinsic hand muscle atrophy, Type 1 muscle fiber predominance, Facial palsy |
ORPHA:178145 |
Myopathy, Centronuclear, 2 |
|
Flexion contracture, EMG: myopathic abnormalities, Scapular winging, Facial palsy, Centrally nucl... |
OMIM:255200 |
Three M Syndrome 1 |
|
Clinodactyly of the 5th finger, Joint dislocation, Pectus excavatum, Short ribs, Short 5th finger... |
OMIM:273750 |
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities |
|
Micrognathia, Respiratory insufficiency, Syndactyly, Neonatal death, Hypoplasia of the ulna, Meso... |
OMIM:228940 |
Ullrich Congenital Muscular Dystrophy 2 |
|
Congenital muscular dystrophy, Facial palsy, Increased variability in muscle fiber diameter, Flex... |
OMIM:616470 |
Metaphyseal Dysostosis, Mental Retardation, And Conductive Deafness |
|
Metaphyseal irregularity, Irregular chondrocostal junctions, Broad phalanx, Metaphyseal dysplasia... |
OMIM:250420 |
Renal Dysplasia-Limb Defects Syndrome |
|
Aplasia of the ulna, Respiratory distress, Short sternum, Short metacarpal, Thin ribs, Short ribs... |
OMIM:266910 |
Intermediate Nemaline Myopathy |
|
Facial diplegia, Nemaline bodies, Flexion contracture, EMG: myopathic abnormalities, Type 1 muscl... |
ORPHA:171433 |
Pyknoachondrogenesis |
|
Enlarged thorax, Sclerosis of skull base, Abnormal iliac wing morphology, Muscular edema, Short r... |
ORPHA:3003 |
Amyotrophic Lateral Sclerosis 21 |
|
Hand muscle weakness, Rimmed vacuoles, Increased variability in muscle fiber diameter, Shoulder g... |
OMIM:606070 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3 |
|
Vertebral segmentation defect, Short thorax, Death in infancy, Vertebral fusion, Sacral dimple |
OMIM:618845 |
Zebra Body Myopathy |
|
Torticollis, Muscle fiber necrosis, Nemaline bodies, EMG: myopathic abnormalities, Rimmed vacuole... |
ORPHA:97240 |
Severe X-Linked Mitochondrial Encephalomyopathy |
|
Increased variability in muscle fiber diameter, Skeletal muscle atrophy |
ORPHA:238329 |
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 |
Myopathy, Distal, 3 |
|
Joint contracture of the hand, EMG: myopathic abnormalities, Muscular dystrophy, Rimmed vacuoles,... |
OMIM:610099 |
Congenital Arthrogryposis With Anterior Horn Cell Disease |
|
Facial diplegia, Micrognathia, Hip dysplasia, Neonatal death, Respiratory failure, Arthrogryposis... |
OMIM:611890 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 7 |
|
Hypoglycosylation of alpha-dystroglycan, Macroglossia, Calf muscle hypertrophy, Scapular winging,... |
OMIM:616052 |
Postsynaptic Congenital Myasthenic Syndromes |
|
Triceps weakness, Reduced vital capacity, Exertional dyspnea, EMG: myopathic abnormalities, Facia... |
ORPHA:98913 |
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome |
|
Skeletal muscle autophagosome accumulation, Rimmed vacuoles, Centrally nucleated skeletal muscle ... |
OMIM:619518 |
Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Narrow chest, Bowing of the legs, Miscarriage, Limitation of joint mobility, Flexion contracture,... |
ORPHA:1865 |
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies |
|
Abnormality of the cervical spine, Superior rib anomalies |
OMIM:307500 |
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism |
|
Cervical C2/C3 vertebral fusion, Nemaline bodies, Flexion contracture, Short neck, Thoracolumbar ... |
OMIM:616549 |
Rhizomelic Dysplasia, Scoliosis, And Retinitis Pigmentosa |
|
Short clavicles, Short ribs, Short humerus, Short femoral neck, Rhizomelia, Broad ribs, Prominent... |
OMIM:610319 |
Autosomal Dominant Spondylocostal Dysostosis |
|
Vertebral segmentation defect, Short neck, Posterior rib fusion, Scoliosis, Spina bifida occulta,... |
ORPHA:1797 |
Myopathy, Myofibrillar, 8 |
|
Nemaline bodies, Scapular winging, Joint contracture of the 5th finger, Limb muscle weakness, Gen... |
OMIM:617258 |
Fibrochondrogenesis |
|
Narrow chest, Short ribs, Camptodactyly of finger, Respiratory insufficiency, Brachydactyly, Micr... |
ORPHA:2021 |
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Narrow chest, Metaphyseal cupping, Short ribs, Iliac crest serration, Micromelia, Wormian bones, ... |
OMIM:613320 |
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1 |
|
Flexion contracture, Rimmed vacuoles, Muscular dystrophy, Pelvic girdle muscle weakness, Muscle f... |
OMIM:603511 |
Hypophosphatasia, Infantile |
|
Bowing of the legs, Apnea, Metaphyseal cupping, Widely patent fontanelles and sutures, Short ribs... |
OMIM:241500 |
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A |
|
Hip contracture, Carpal synostosis, Multiple pterygia, Spondylolisthesis, Craniosynostosis, Hemiv... |
OMIM:178110 |
Mesomelic Dysplasia, Kantaputra Type |
|
Vertebral segmentation defect, Camptodactyly of finger, Synostosis of carpal bones, Abnormality o... |
ORPHA:1836 |
Autosomal Recessive Centronuclear Myopathy |
|
Facial diplegia, Hip contracture, Left ventricular hypertrophy, Facial palsy, Scapular winging, T... |
ORPHA:169186 |
Prieto Syndrome |
|
Coxa valga, 11 pairs of ribs, Osteoporosis, Patellar subluxation, Clinodactyly, Radial deviation ... |
OMIM:309610 |
Distal Nebulin Myopathy |
|
Nemaline bodies, EMG: myopathic abnormalities, Weakness of facial musculature, Foot dorsiflexor w... |
ORPHA:399103 |
Myoclonic Epilepsy Associated With Ragged-Red Fibers |
|
Ragged-red muscle fibers, Myopathy |
OMIM:545000 |
Multiminicore Myopathy |
|
Abnormal muscle fiber morphology, Proximal muscle weakness in lower limbs, Minicore myopathy, Con... |
ORPHA:598 |
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5 |
|
Increased endomysial connective tissue, Macroglossia, Right ventricular hypertrophy, Calf muscle ... |
ORPHA:353 |
Hyperekplexia 4 |
|
Flexion contracture, Adducted thumb, Camptodactyly, Distal arthrogryposis, Umbilical hernia, Resp... |
OMIM:618011 |
Hereditary Motor And Sensory Neuropathy, Okinawa Type |
|
Aspiration pneumonia, Lower limb muscle weakness, Cough, Respiratory failure requiring assisted v... |
ORPHA:90117 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 21 |
|
Increased intramyocellular lipid droplets, Increased variability in muscle fiber diameter |
OMIM:619065 |
Otopalatodigital Syndrome, Type Ii |
|
Pectus excavatum, Radial deviation of the 2nd finger, Femoral bowing, Congenital hip dislocation,... |
OMIM:304120 |
Thoraco-Abdominal Enteric Duplication |
|
Respiratory insufficiency, Camptodactyly of finger, Missing ribs, Meningocele |
ORPHA:1759 |
Autosomal Dominant Centronuclear Myopathy |
|
Proximal muscle weakness in lower limbs, Calf muscle hypertrophy, EMG: myopathic abnormalities, A... |
ORPHA:169189 |
Myopathy, Distal, 1 |
|
Amyotrophy of ankle musculature, Toe extensor amyotrophy, Rimmed vacuoles, Type 1 muscle fiber pr... |
OMIM:160500 |
Nemaline Myopathy 1 |
|
Facial diplegia, Nemaline bodies, Pectus excavatum, Flexion contracture, EMG: myopathic abnormali... |
OMIM:609284 |
Nemaline Myopathy 4 |
|
Facial diplegia, Nemaline bodies, Flexion contracture, Type 1 muscle fiber predominance, Limb mus... |
OMIM:609285 |
Nemaline Myopathy 5 |
|
Hip contracture, Nemaline bodies, Decreased hip abduction, Z-band streaming, Respiratory insuffic... |
OMIM:605355 |
Krabbe Disease, Atypical, Due To Saposin A Deficiency |
|
Respiratory insufficiency, Respiratory failure, Death in infancy, Central apnea |
OMIM:611722 |
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly |
|
Narrow chest, Acetabular spurs, Short ribs, Postaxial polydactyly, Femoral bowing, Preaxial polyd... |
OMIM:615503 |
Fibrodysplasia Ossificans Progressiva |
|
Clinodactyly of the 5th finger, Ectopic ossification in tendon tissue, Short 1st metacarpal, Meta... |
OMIM:135100 |
Peripheral Motor Neuropathy, Childhood-Onset, Biotin-Responsive |
|
Fiber type grouping, Distal lower limb muscle weakness, Interosseus muscle atrophy, Thenar muscle... |
OMIM:619903 |
Acrodysplasia Scoliosis |
|
Vertebral segmentation defect, Scoliosis, Spina bifida occulta |
ORPHA:2956 |
Becker Nevus Syndrome |
|
Hemivertebrae, Cervical ribs, Pectus excavatum, Scoliosis |
OMIM:604919 |
Short-Rib Thoracic Dysplasia 18 With Polydactyly |
|
Radial bowing, 2-3 toe syndactyly, Postaxial polydactyly, Short ribs, Preaxial polydactyly, Micro... |
OMIM:617866 |
Hereditary Continuous Muscle Fiber Activity |
|
Type 1 muscle fiber predominance, Congenital diaphragmatic hernia |
ORPHA:972 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Decreased fibular diameter, Flexion contracture, Short femur, Short ribs, Adducted thumb, Flared ... |
OMIM:616897 |
Multiple Pterygium Syndrome, Escobar Variant |
|
Multiple joint contractures, Weakness of facial musculature, Down-sloping shoulders, Short neck, ... |
OMIM:265000 |
Osteogenesis Imperfecta, Type Xv |
|
Recurrent fractures, Thin ribs, Platyspondyly, Scoliosis, Joint hypermobility, Bowing of limbs du... |
OMIM:615220 |
King-Denborough Syndrome |
|
Muscle fiber atrophy, Weakness of facial musculature, Minicore myopathy, Type 1 muscle fiber pred... |
OMIM:619542 |
Distal Myotilinopathy |
|
EMG: myopathic abnormalities, Multiple joint contractures, Abnormal muscle fiber myotilin, Distal... |
ORPHA:98911 |
Developmental And Epileptic Encephalopathy 71 |
|
Respiratory insufficiency, Respiratory failure |
OMIM:618328 |
Greenberg Dysplasia |
|
Anterior rib punctate calcifications, Short metacarpal, Barrel-shaped chest, 11 pairs of ribs, Mi... |
OMIM:215140 |
Dyssegmental Dysplasia, Rolland-Desbuquois Type |
|
Narrow chest, Advanced ossification of carpal bones, Limitation of joint mobility, Joint contract... |
OMIM:224400 |
Lethal Congenital Contracture Syndrome 5 |
|
Centrally nucleated skeletal muscle fibers, Congenital contracture, Flexion contracture |
OMIM:615368 |
Mucolipidosis Iii Alpha/Beta |
|
Irregular carpal bones, Soft tissue swelling of interphalangeal joints, Craniosynostosis, Short r... |
OMIM:252600 |
Congenital Muscular Dystrophy With Intellectual Disability |
|
Reduced muscle fiber alpha dystroglycan, Multiple joint contractures, Hypoglycosylation of alpha-... |
ORPHA:370968 |
Marinesco-Sjogren Syndrome |
|
Flexion contracture, Rimmed vacuoles, Centrally nucleated skeletal muscle fibers, Skeletal muscle... |
OMIM:248800 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6 |
|
Proximal muscle weakness in lower limbs, Increased variability in muscle fiber diameter, Type 1 m... |
OMIM:613954 |
Lethal Osteosclerotic Bone Dysplasia |
|
Respiratory distress, Delayed cranial suture closure, Micrognathia, Mandibular aplasia, Dyspnea, ... |
ORPHA:1832 |
Myasthenic Syndrome, Congenital, 14 |
|
Ragged-red muscle fibers, Scapular winging, Limb-girdle muscle weakness, Flexion contracture |
OMIM:616228 |
Glycogen Storage Disease Ixd |
|
Glycogen accumulation in muscle fiber lysosomes, Muscle fiber necrosis, Increased muscle glycogen... |
OMIM:300559 |
Atelosteogenesis Type Ii |
|
Broad phalanx, Micromelia, Upper limb undergrowth, Dumbbell-shaped femur, Rhizomelic arm shorteni... |
ORPHA:56304 |
Combined Oxidative Phosphorylation Deficiency 6 |
|
Ragged-red muscle fibers, Skeletal muscle atrophy |
OMIM:300816 |
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies |
|
Pectus excavatum, Micrognathia, Hypoplastic distal segments of scapulae, Abnormal rib morphology,... |
OMIM:602196 |
Dpm3-Cdg |
|
Calf muscle hypertrophy, Muscular dystrophy, Pelvic girdle muscle weakness, Rimmed vacuoles |
ORPHA:263494 |
Cooper-Jabs Syndrome |
|
Congenital diaphragmatic hernia, Abnormal hip bone morphology, Reduced bone mineral density, Camp... |
ORPHA:1488 |
Scarf Syndrome |
|
Diastasis recti, Short sternum, Craniosynostosis, Pectus carinatum, Umbilical hernia, Joint hyper... |
ORPHA:3134 |
Jeune Syndrome |
|
Narrow chest, Abnormal sternum morphology, Abnormal clavicle morphology, Cone-shaped epiphysis, B... |
ORPHA:474 |
Mitochondrial Complex I Deficiency, Nuclear Type 30 |
|
Respiratory failure, Neonatal death |
OMIM:301021 |
Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Coxa vara, Limitation of joint mobility, Short metacarpal, Osteoarthritis, Synostosis of carpal b... |
ORPHA:93351 |
Fkrp-Related Limb-Girdle Muscular Dystrophy R9 |
|
Reduced muscle fiber alpha dystroglycan, Shoulder girdle muscle weakness, Reduced muscle fiber me... |
ORPHA:34515 |
Orofaciodigital Syndrome Iii |
|
Postaxial hand polydactyly, Pectus excavatum, Short sternum, Postaxial foot polydactyly |
OMIM:258850 |
Lethal Congenital Contracture Syndrome Type 1 |
|
Recurrent fractures, Short neck, Abnormal form of the vertebral bodies, Abnormal rib morphology, ... |
ORPHA:1486 |
Lamb-Shaffer Syndrome |
|
Fused cervical vertebrae, Thoracic kyphosis, Scoliosis |
ORPHA:530983 |
Myopathy, Myofibrillar, 4 |
|
EMG: myopathic abnormalities, Autophagic vacuoles, Myofibrillar myopathy, Muscle fiber splitting |
OMIM:609452 |
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
|
Distal shortening of limbs, Metaphyseal cupping of proximal phalanges, Metaphyseal cupping, Thin ... |
OMIM:300863 |
Lethal Kniest-Like Dysplasia |
|
Narrow chest, Hypoplastic vertebral bodies, Short ribs, Hypoplastic ilia, Flared metaphysis, Ante... |
ORPHA:2347 |
Craniodiaphyseal Dysplasia |
|
Abnormal rib morphology, Craniofacial hyperostosis |
ORPHA:1513 |
Short Rib-Polydactyly Syndrome |
|
Cone-shaped epiphysis, Micromelia, Bowing of the long bones, Respiratory failure, Short long bone... |
ORPHA:1505 |
Atelosteogenesis, Type I |
|
Narrow chest, Knee dislocation, Long clavicles, Short neck, 11 pairs of ribs, Neonatal death, Bel... |
OMIM:108720 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 9 |
|
Muscular dystrophy, Limb-girdle muscle weakness, Hypoglycosylation of alpha-dystroglycan, Ankle f... |
OMIM:613818 |
Creatine Phosphokinase, Elevated Serum |
|
Abnormal muscle fiber morphology, EMG: myopathic abnormalities, Muscular dystrophy, Inflammatory ... |
OMIM:123320 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5 |
|
Kyphosis, Macroglossia, Thigh hypertrophy, Calf muscle hypertrophy, EMG: myopathic abnormalities,... |
OMIM:606612 |
Severe Congenital Nemaline Myopathy |
|
Facial diplegia, Nemaline bodies, Flexion contracture, Thin ribs, Adducted thumb, Abnormality of ... |
ORPHA:171430 |
Childhood-Onset Nemaline Myopathy |
|
Facial diplegia, Nemaline bodies, Flexion contracture, EMG: myopathic abnormalities, Increased va... |
ORPHA:171439 |
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4 |
|
Calf muscle hypertrophy, Increased variability in muscle fiber diameter, Pelvic girdle muscle wea... |
ORPHA:119 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh |
|
Intrinsic hand muscle atrophy, Centrally nucleated skeletal muscle fibers, Foot dorsiflexor weakn... |
OMIM:619574 |
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
Narrow chest, Short distal phalanx of finger, Short ribs, Postaxial polydactyly, Brachydactyly, P... |
OMIM:614091 |
Craniodiaphyseal Dysplasia, Autosomal Dominant |
|
Thickened ribs, Facial diplegia, Cortical sclerosis, Diaphyseal sclerosis, Craniofacial osteoscle... |
OMIM:122860 |
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly |
|
Narrow chest, Postaxial polydactyly, Brachydactyly, Bell-shaped thorax, Horizontal ribs, Thoracic... |
OMIM:615633 |
Ehlers-Danlos Syndrome, Classic-Like, 2 |
|
Cervical C2/C3 vertebral fusion, Thoracic scoliosis, Knee dislocation, Generalized joint laxity, ... |
OMIM:618000 |
Basal Cell Nevus Syndrome |
|
Sprengel anomaly, Bifid ribs, Short distal phalanx of the thumb, Abnormal sternum morphology, Irr... |
OMIM:109400 |
Stuve-Wiedemann Syndrome 2 |
|
Respiratory distress, Death in adolescence, Neonatal death, Camptodactyly, Thoracic hypoplasia, B... |
OMIM:619751 |
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type |
|
Broad phalanx, Pectus excavatum, Micromelia, C1-C2 subluxation, Hip subluxation, Posterior rib cu... |
OMIM:271665 |
Scarf Syndrome |
|
Diastasis recti, Short sternum, Coronal craniosynostosis, Barrel-shaped chest, Pectus carinatum, ... |
OMIM:312830 |
Hereditary Motor And Sensory Neuropathy, Type Iic |
|
Down-sloping shoulders, Hand muscle atrophy, Stridor, Foot dorsiflexor weakness, Shoulder girdle ... |
OMIM:606071 |
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1 |
|
Pelvic girdle muscle atrophy, Pelvic girdle amyotrophy, Rimmed vacuoles, Pelvic girdle muscle wea... |
OMIM:167320 |
Myopathy, Myofibrillar, 7 |
|
Multiple joint contractures, Nemaline bodies, Flexion contracture, Z-band streaming, Increased va... |
OMIM:617114 |
Cleidocranial Dysplasia 1 |
|
Respiratory distress, Cone-shaped epiphyses of the phalanges of the hand, Absent frontal sinuses,... |
OMIM:119600 |
Myopathy, Proximal, With Ophthalmoplegia |
|
Scapular winging, Congenital contracture, Muscle fiber inclusion bodies, Myopathy |
OMIM:605637 |
Multiple Pterygium Syndrome, X-Linked |
|
Amyoplasia, Multiple pterygia, Joint dislocation, Flexion contracture, Thin ribs, Abnormal cervic... |
OMIM:312150 |
Thin Ribs-Tubular Bones-Dysmorphism Syndrome |
|
Abnormal rib morphology, Slender long bone, Abnormal pelvic girdle bone morphology |
ORPHA:1506 |
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome |
|
Respiratory distress, Abnormal sternum morphology, Short ribs, Postaxial hand polydactyly, Abnorm... |
ORPHA:2519 |
Metaphyseal Chondrodysplasia, Jansen Type |
|
Hip contracture, Metaphyseal cupping, Clinodactyly of the 5th finger, Short ribs, Micrognathia, O... |
OMIM:156400 |
Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy |
|
Motheaten muscle fibers, Muscular dystrophy, Increased variability in muscle fiber diameter, Musc... |
OMIM:226670 |
Stapes Ankylosis With Broad Thumbs And Toes |
|
Fused cervical vertebrae, Proximal/middle symphalangism of 5th finger |
OMIM:184460 |
Congenital Multicore Myopathy With External Ophthalmoplegia |
|
Facial diplegia, Nemaline bodies, Hypertrophied muscle fibers, Flexion contracture, Internally nu... |
ORPHA:98905 |
Amish Nemaline Myopathy |
|
Hip contracture, EMG: myopathic abnormalities, Type 1 muscle fiber predominance, Shoulder flexion... |
ORPHA:98902 |
Grant Syndrome |
|
Sprengel anomaly, Narrow chest, Joint dislocation, Abnormality of the glenoid fossa, Joint hyperf... |
ORPHA:2097 |
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 |
Cerebrofaciothoracic Dysplasia |
|
Sprengel anomaly, Rib fusion, Bifid ribs, Narrow chest |
ORPHA:1394 |
Pontocerebellar Hypoplasia, Type 4 |
|
Congenital contracture, Respiratory failure, Death in infancy |
OMIM:225753 |
Thrombocytopenia-Absent Radius Syndrome |
|
Aplasia/Hypoplasia of the patella, Scoliosis, Genu varum, Fused cervical vertebrae, Cervical ribs... |
ORPHA:3320 |
Ellis-Van Creveld Syndrome |
|
Narrow chest, Acetabular spurs, Short ribs, Cone-shaped epiphyses of phalanges 2 to 5, Pectus car... |
OMIM:225500 |
Mitochondrial Dna Depletion Syndrome, Myopathic Form |
|
Respiratory distress, Respiratory insufficiency due to muscle weakness, Weakness of facial muscul... |
ORPHA:254875 |
Lethal Congenital Contracture Syndrome 1 |
|
Hypoplasia of the musculature, Widening of cervical spinal canal, Neonatal death, Abnormal thorax... |
OMIM:253310 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3 |
|
Irregular vertebral endplates, Dislocated radial head, Knee dislocation, Thin ribs, Short neck, P... |
OMIM:618395 |
Tarp Syndrome |
|
Pectus excavatum, Short sternum, Postaxial polydactyly, Hypoplasia of the radius, Micrognathia, C... |
OMIM:311900 |
Meier-Gorlin Syndrome 1 |
|
Respiratory distress, Absent glenoid fossa, Pectus carinatum, Genu valgum, Elbow dislocation, Abs... |
OMIM:224690 |
Multiple Pterygium Syndrome, Lethal Type |
|
Amyoplasia, Multiple pterygia, Joint dislocation, Flexion contracture, Thin ribs, Abnormal cervic... |
OMIM:253290 |
Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Cone-shaped epiphyses of the phalanges of the hand, 11 pairs of ribs, Rhizomelia, Short long bone... |
OMIM:250220 |
Braddock Syndrome |
|
Pectus excavatum, Micrognathia, Missing ribs, Congenital muscular torticollis, Neonatal respirato... |
ORPHA:52047 |
Muscular Dystrophy, Congenital Merosin-Deficient, 1A |
|
Congenital muscular dystrophy, Increased endomysial connective tissue, Flexion contracture |
OMIM:607855 |
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Acetabular spurs, Absent tibia, Metaphyseal spurs, Short long bone, Short ribs, Postaxial polydac... |
OMIM:613091 |
Ispd-Related Limb-Girdle Muscular Dystrophy R20 |
|
Hypoglycosylation of alpha-dystroglycan, Macroglossia, Proximal muscle weakness in lower limbs, L... |
ORPHA:352479 |
Imperforate Oropharynx-Costovertebral Anomalies Syndrome |
|
Respiratory distress, Clinodactyly of the 5th finger, Arachnodactyly, Abnormal rib morphology, Mi... |
ORPHA:2759 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 4 |
|
Ragged-red muscle fibers, Skeletal muscle atrophy |
OMIM:617070 |
Brachydactyly, Type B1 |
|
Wide anterior fontanel, Joint contracture of the hand, Hypoplastic sacrum, Hemivertebrae, Delayed... |
OMIM:113000 |
Myotonia With Skeletal Abnormalities And Mental Retardation |
|
Kyphoscoliosis, Skeletal muscle hypertrophy, Pectus carinatum, Bell-shaped thorax, Genu valgum, V... |
OMIM:255710 |
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2 |
|
Abnormal rib morphology, Short neck, Vertebral segmentation defect |
ORPHA:2578 |
Orofaciodigital Syndrome Type 3 |
|
Pectus excavatum, Short sternum, Postaxial hand polydactyly, Thoracic kyphosis, Postaxial foot po... |
ORPHA:2752 |
Congenital Cataract-Progressive Muscular Hypotonia-Hearing Loss-Developmental Delay Syndrome |
|
Abnormal muscle fiber protein expression |
ORPHA:330054 |
Van Den Ende-Gupta Syndrome |
|
Pectus excavatum, Craniosynostosis, Femoral bowing, Tapered finger, Glenoid fossa hypoplasia, Lon... |
OMIM:600920 |
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome |
|
EMG: myopathic abnormalities, Increased variability in muscle fiber diameter, Lower limb muscle w... |
ORPHA:397744 |
Congenital Pseudoarthrosis Of The Clavicle |
|
Congenital pseudoarthrosis of the clavicle, Osteoarthritis, Cervical ribs |
ORPHA:66630 |
Pelvis-Shoulder Dysplasia |
|
Dislocated radial head, Long clavicles, Aplasia/Hypoplasia of the clavicles, Aplasia/Hypoplasia o... |
ORPHA:2839 |
Ceroid Lipofuscinosis, Neuronal, 10 |
|
Apnea, Respiratory insufficiency, Neonatal death, Split hand, Respiratory failure |
OMIM:610127 |
Donnai-Barrow Syndrome |
|
Diaphragmatic eventration, Short sternum, Congenital diaphragmatic hernia, Umbilical hernia |
OMIM:222448 |
Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Lumbar hyperlordosis, Hypoplastic sacrum, Osteoarthritis, Platyspondyly, Pectus carinatum, Enlarg... |
OMIM:271650 |
Mitochondrial Myopathy, Infantile, Transient |
|
Increased muscle glycogen content, Macroglossia, Ragged-red muscle fibers, Increased muscle lipid... |
OMIM:500009 |
Myoglobinuria, Recurrent |
|
Ragged-red muscle fibers |
OMIM:550500 |
Spinal Muscular Atrophy With Congenital Bone Fractures 2 |
|
Flexion contracture, Increased variability in muscle fiber diameter, Spinal muscular atrophy, Art... |
OMIM:616867 |
Nail-Patella Syndrome |
|
Hypoplasia of first ribs, Antecubital pterygium, Clinodactyly of the 5th finger, Disproportionate... |
OMIM:161200 |
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Apnea, Abnormal 5th metacarpal morphology, Cone-shaped epiphysis, Rhizomelic arm shortening, Twel... |
ORPHA:397715 |
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects |
|
Sprengel anomaly, Pectus excavatum, Butterfly vertebrae, Spina bifida occulta, Fused cervical ver... |
OMIM:619227 |
Butyrylcholinesterase Deficiency |
|
Respiratory failure, Respiratory failure requiring assisted ventilation |
ORPHA:132 |
Schneckenbecken Dysplasia |
|
Narrow chest, Hypoplastic vertebral bodies, Short ribs, Increased fibular diameter, Hypoplastic i... |
ORPHA:3144 |
Marshall-Smith Syndrome |
|
Apnea, Airway obstruction, Pectus excavatum, Short sternum, Slender finger, Prominent fingertip p... |
OMIM:602535 |
Kniest-Like Dysplasia, Lethal |
|
Narrow chest, Metaphyseal irregularity, Hypoplastic vertebral bodies, Short ribs, Hypoplastic ili... |
OMIM:245190 |
Immunodeficiency 95 |
|
Respiratory distress, Recurrent viral pneumonia, Respiratory failure |
OMIM:619773 |
Oculopharyngeal Myopathy With Leukoencephalopathy 1 |
|
Weakness of facial musculature, Respiratory failure |
OMIM:618637 |
Mitochondrial Dna-Related Progressive External Ophthalmoplegia |
|
Ragged-red muscle fibers, Abnormal mitochondria in muscle tissue |
ORPHA:663 |
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome |
|
Abnormality of the humeroulnar joint, Hemivertebrae, Short neck, Abnormal form of the vertebral b... |
ORPHA:2234 |
Blomstrand Lethal Chondrodysplasia |
|
Narrow chest, Distal shortening of limbs, Metaphyseal cupping, Increased bone mineral density, Sh... |
ORPHA:50945 |
Intellectual Developmental Disorder, Autosomal Dominant 52 |
|
Cervical C2/C3 vertebral fusion, Lumbar hyperlordosis, Pectus carinatum, Lumbar scoliosis, Scapul... |
OMIM:617796 |
Myotubular Myopathy With Abnormal Genital Development |
|
Centrally nucleated skeletal muscle fibers, Myopathy |
OMIM:300219 |
Pulmonary Hypoplasia, Primary |
|
Neonatal death |
OMIM:265430 |
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Narrow chest, Microretrognathia, Short ribs, Postaxial polydactyly, Preaxial polydactyly, Respira... |
OMIM:616300 |
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects |
|
Short clavicles, Finger syndactyly, Flexion contracture, Short ribs, Absent middle phalanx of 3rd... |
OMIM:308050 |
Becker Nevus Syndrome |
|
Rib fusion, Kyphosis, Pectus excavatum, Scoliosis, Pectus carinatum, Shoulder girdle muscle atrop... |
ORPHA:64755 |
Combined Oxidative Phosphorylation Deficiency 28 |
|
Ragged-red muscle fibers, Respiratory failure |
OMIM:616794 |
Congenital Myopathy With Myasthenic-Like Onset |
|
Multiple joint contractures, EMG: myopathic abnormalities, Minicore myopathy, Type 1 muscle fiber... |
ORPHA:424107 |
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy |
|
Increased variability in muscle fiber diameter, Myopathy |
OMIM:125250 |
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Narrow chest, Abnormal clavicle morphology, Platyspondyly, Short neck, Abnormal rib morphology, D... |
ORPHA:93267 |
Momo Syndrome |
|
Congenital pseudoarthrosis of the clavicle, Femoral bowing, Abnormal bone ossification, Short ste... |
ORPHA:2563 |
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1 |
|
Diaphragmatic eventration, Camptodactyly of finger, Distal amyotrophy, Spinal muscular atrophy, T... |
OMIM:604320 |
Cerebral-Cerebellar-Coloboma Syndrome, X-Linked |
|
Abnormal rib morphology |
OMIM:300864 |
Spondylometaphyseal Dysplasia, Axial |
|
Narrow chest, Platyspondyly, Anterior rib cupping, Scoliosis, Thoracic hypoplasia |
OMIM:602271 |
Congenital Contractures Of The Limbs And Face, Hypotonia, And Developmental Delay |
|
Hip contracture, Adducted thumb, Micrognathia, Respiratory insufficiency, 11 pairs of ribs, Campt... |
OMIM:616266 |
Central Core Disease |
|
Multiple joint contractures, Nemaline bodies, Central core regions in muscle fibers, Pelvic girdl... |
ORPHA:597 |
Poland Syndrome |
|
Cone-shaped epiphysis, Abnormality of the humerus, Pectus carinatum, Encephalocele, Sprengel anom... |
ORPHA:2911 |
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
|
Rib fusion, Thin ribs, Short ribs, Supernumerary vertebrae, Hemivertebrae, Short neck, Scoliosis,... |
OMIM:271520 |
Cortical Defects, Wormian Bones, And Dentinogenesis Imperfecta |
|
Asymmetry of the thorax, Thin ribs, Epiphyseal streaking, Clinodactyly of the 4th toe, Wormian bo... |
OMIM:604922 |
Chromosome 8Q22.1 Duplication Syndrome |
|
Cervical C2/C3 vertebral fusion, Joint stiffness, Genu recurvatum, Enlarged interphalangeal joint... |
OMIM:151200 |
Kbg Syndrome |
|
Vertebral fusion, Short neck, Scoliosis, Thoracic kyphosis, Cervical ribs, Persistent open anteri... |
ORPHA:2332 |
Congenital Muscular Dystrophy Due To Lmna Mutation |
|
Narrow chest, Flexion contracture, Respiratory insufficiency, Joint hyperflexibility, Death in in... |
ORPHA:157973 |
Kearns-Sayre Syndrome |
|
Ragged-red muscle fibers, Skeletal muscle atrophy |
ORPHA:480 |
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome |
|
Cervical C2/C3 vertebral fusion, Upper limb muscle weakness |
ORPHA:370010 |
Vacterl Association With Hydrocephalus |
|
Absent thumb, Radial club hand, Respiratory insufficiency, Respiratory failure, Stillbirth |
OMIM:276950 |
Proximal Spinal Muscular Atrophy |
|
Facial diplegia, Multiple joint contractures, Flexion contracture, Hypoventilation, Weakness of f... |
ORPHA:70 |
Short-Rib Thoracic Dysplasia 12 |
|
Narrow chest, Bowing of the legs, Short toe, Short ribs, Respiratory insufficiency, Bowing of the... |
OMIM:269860 |
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1 |
|
Sprengel anomaly, Rib fusion, Bifid ribs, Pectus excavatum, Narrow chest, Overlapping toe, Cranio... |
OMIM:213980 |
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type |
|
Bowing of the legs, Pectus excavatum, Metaphyseal spurs, Dysplastic iliac wing, Short long bone, ... |
OMIM:608728 |
Schinzel-Giedion Midface Retraction Syndrome |
|
Short distal phalanx of finger, Tibial bowing, Widely patent fontanelles and sutures, Short stern... |
OMIM:269150 |
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness |
|
Irregular vertebral endplates, Beaking of vertebral bodies, Lumbar hyperlordosis, Delayed ossific... |
OMIM:609616 |
Laing Early-Onset Distal Myopathy |
|
Abnormality of the calf musculature, Proximal muscle weakness in lower limbs, EMG: myopathic abno... |
ORPHA:59135 |
Osteogenesis Imperfecta, Type Xviii |
|
Recurrent fractures, Thin ribs, Biconcave vertebral bodies, Wormian bones, Thin bony cortex, Join... |
OMIM:617952 |
Myopathic Ehlers-Danlos Syndrome |
|
Multiple joint contractures, Joint contracture of the hand, Flexion contracture, Weakness of faci... |
ORPHA:536516 |
Aicardi Syndrome |
|
Bifid ribs, Rib fusion, Small hand, Missing ribs, Block vertebrae, Supernumerary ribs, Hip dysplasia |
ORPHA:50 |
Achondrogenesis Type 1B |
|
Narrow chest, Short neck, Abnormal rib morphology, Short thorax, Abnormal enchondral ossification |
ORPHA:93298 |
White Forelock With Malformations |
|
Sprengel anomaly, Spina bifida occulta, Abnormal rib morphology, Delayed skeletal maturation, Joi... |
ORPHA:2475 |
Combined Oxidative Phosphorylation Deficiency 49 |
|
Ragged-red muscle fibers |
OMIM:619024 |
Mosaic Trisomy 20 |
|
Narrow chest, Spinal canal stenosis, Vertebral segmentation defect, Kyphosis, Limited pronation/s... |
ORPHA:1724 |
Lymphangiectasia, Intestinal |
|
Stillbirth, Prominent floating ribs |
OMIM:152800 |
Frontometaphyseal Dysplasia |
|
Sprengel anomaly, Dislocated radial head, Sclerosis of skull base, Hypoplasia of the musculature,... |
ORPHA:1826 |
Mosaic Trisomy 14 |
|
Narrow chest, Camptodactyly of finger, Short neck, Abnormal rib morphology |
ORPHA:1703 |
Muscular Dystrophy, Duchenne Type |
|
Hamstring contractures, Flexion contracture, Hypoventilation, Calf muscle hypertrophy, Muscular d... |
OMIM:310200 |
Diastrophic Dysplasia |
|
Joint stiffness, Kyphosis, Abnormal clavicle morphology, Joint dislocation, Increased bone minera... |
ORPHA:628 |
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency |
|
Increased muscle glycogen content, Macroglossia, Ragged-red muscle fibers, Increased muscle lipid... |
ORPHA:254864 |
Developmental And Speech Delay Due To Sox5 Deficiency |
|
Lumbar hyperlordosis, Butterfly vertebrae, Scoliosis, Pectus carinatum, Thoracic kyphoscoliosis, ... |
ORPHA:313892 |
Turnpenny-Fry Syndrome |
|
Torticollis, Overlapping toe, Narrow chest, Pectus excavatum, Short sternum, Adducted thumb, Smal... |
OMIM:618371 |
Metaphyseal Chondrodysplasia, Schmid Type |
|
Femoral bowing, Short long bone, Metaphyseal irregularity, Metaphyseal cupping of proximal phalan... |
ORPHA:174 |
Osteogenesis Imperfecta, Type Iii |
|
Recurrent fractures, Kyphosis, Wide anterior fontanel, Thin ribs, Decreased calvarial ossificatio... |
OMIM:259420 |
Congenital Myasthenic Syndromes With Glycosylation Defect |
|
Flexion contracture, Generalized weakness of limb muscles, Limb-girdle muscle weakness, Scapular ... |
ORPHA:353327 |
Autosomal Recessive Spondylocostal Dysostosis |
|
Vertebral segmentation defect, Rib fusion, Kyphosis, Congenital diaphragmatic hernia, Camptodacty... |
ORPHA:2311 |
Short-Rib Thoracic Dysplasia 14 With Polydactyly |
|
Narrow chest, Congenital diaphragmatic hernia, Postaxial polydactyly, Preaxial polydactyly, Short... |
OMIM:616546 |
Cree Mental Retardation Syndrome |
|
Pectus excavatum, Micrognathia, Aplasia/Hypoplasia of the ribs, Rocker bottom foot, Cutaneous fin... |
OMIM:606851 |
Ulbright-Hodes Syndrome |
|
Aplasia/Hypoplasia of the ulna, Respiratory distress, Short sternum, Short metacarpal, Thin ribs,... |
ORPHA:3404 |
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion |
|
Diastasis recti, Overlapping toe, Flexion contracture of finger, Pectus excavatum, Prominent ster... |
ORPHA:254528 |
Spondyloepimetaphyseal Dysplasia, Strudwick Type |
|
Platyspondyly, Anterior rib cupping, Scoliosis, Pectus carinatum, C1-C2 subluxation, Hyperlordosi... |
OMIM:184250 |
Epidermolysis Bullosa With Diaphragmatic Hernia |
|
Neonatal death |
OMIM:226735 |
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction |
|
Hyperextensibility of the finger joints, Respiratory insufficiency, 11 pairs of ribs |
OMIM:618356 |
Ullrich Congenital Muscular Dystrophy 1 |
|
Torticollis, Muscle fiber necrosis, Flexion contracture, Increased variability in muscle fiber di... |
OMIM:254090 |
Momo Syndrome |
|
Short sternum |
OMIM:157980 |
Spinal Muscular Atrophy, X-Linked 2 |
|
Multiple joint contractures, Respiratory insufficiency due to muscle weakness, Flexion contractur... |
OMIM:301830 |
Keratoconus Posticus Circumscriptus |
|
Abnormal vertebral segmentation and fusion, Short neck, Limited elbow extension and supination |
OMIM:244600 |
Renal Hypodysplasia/Aplasia 4 |
|
Respiratory failure |
OMIM:619887 |
Surfactant Metabolism Dysfunction, Pulmonary, 1 |
|
Apnea, Neonatal death, Tachypnea, Death in infancy, Neonatal respiratory distress, Dyspnea, Pulmo... |
OMIM:265120 |
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 |
Myopathy, Myofibrillar, 6 |
|
EMG: myopathic abnormalities, Muscular dystrophy, Respiratory insufficiency, Myofibrillar myopath... |
OMIM:612954 |
Tarp Syndrome |
|
Hypoplasia of proximal radius, Apnea, Widely patent fontanelles and sutures, Short sternum, Pectu... |
ORPHA:2886 |
Meier-Gorlin Syndrome 3 |
|
Narrow chest, Coxa vara, Microretrognathia, Short ribs, Tracheomalacia, Micrognathia, Aplasia/Hyp... |
OMIM:613803 |
Osteogenesis Imperfecta, Type Ii |
|
Recurrent fractures, Thin ribs, Platyspondyly, Wormian bones, Bell-shaped thorax, Thoracic hypopl... |
OMIM:166210 |
Nemaline Myopathy 11, Autosomal Recessive |
|
Nemaline bodies, Facial palsy, Scapular winging, Type 1 muscle fiber predominance |
OMIM:617336 |
Cap Myopathy |
|
Abnormal muscle fiber morphology, Increased variability in muscle fiber diameter, Lower limb amyo... |
ORPHA:171881 |
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Narrow chest, Lateral clavicle hook, Short ribs, Preaxial hand polydactyly, Brachydactyly, Postax... |
OMIM:263520 |
Mucopolysaccharidosis Type 4 |
|
Spinal canal stenosis, Kyphosis, Joint dislocation, Reduced bone mineral density, Platyspondyly, ... |
ORPHA:582 |
Myasthenic Syndrome, Congenital, 5 |
|
Type 2 muscle fiber atrophy, Limb muscle weakness, Decreased muscle mass, Myopathy |
OMIM:603034 |
Cdags Syndrome |
|
Short clavicles, Short ribs, Coronal craniosynostosis, Delayed cranial suture closure, Sagittal c... |
OMIM:603116 |
Multiple Mitochondrial Dysfunctions Syndrome 1 |
|
Respiratory insufficiency, Pulmonary arterial hypertension, Respiratory failure |
OMIM:605711 |
Hernia, Anterior Diaphragmatic |
|
Neonatal death |
OMIM:306950 |
Thoracic Outlet Syndrome |
|
Abnormal rib morphology |
ORPHA:97330 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5 |
|
Kyphosis, Macroglossia, Thigh hypertrophy, Calf muscle hypertrophy, Pelvic girdle muscle weakness... |
OMIM:607155 |
Congenital Disorder Of Glycosylation, Type Ig |
|
Short femur, Hypoplasia of the radius, Short ribs, Short tibia, Short humerus, Rhizomelia, Sandal... |
OMIM:607143 |
Thoracic Dysplasia-Hydrocephalus Syndrome |
|
Narrow chest, Abnormal metaphysis morphology, Respiratory failure, Limb undergrowth |
ORPHA:1861 |
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita |
|
Increased endomysial connective tissue, Reduced vital capacity, Flexion contracture, Minicore myo... |
ORPHA:178148 |
Cornelia De Lange Syndrome 1 |
|
Dislocated radial head, Clinodactyly of the 5th finger, Short sternum, 2-3 toe syndactyly, Hand o... |
OMIM:122470 |
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome |
|
Respiratory insufficiency due to muscle weakness, Recurrent aspiration pneumonia, Respiratory fai... |
ORPHA:2590 |
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis |
|
Muscle fiber necrosis, Weakness of facial musculature, Scapular winging, Increased variability in... |
OMIM:607459 |
Asbestos Intoxication |
|
Oxygen desaturation on exertion, Reduced vital capacity, Hypoxemia, Nonproductive cough, Reduced ... |
ORPHA:2302 |
Weaver Syndrome |
|
Prominent fingertip pads, Short fourth metatarsal, Flared humeral metaphysis, Flared femoral meta... |
OMIM:277590 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 2 |
|
Narrow chest, Rhizomelia, 11 pairs of ribs |
OMIM:617661 |
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 6 |
|
Arthrogryposis-like hand anomaly, Diaphragmatic eventration, Foot dorsiflexor weakness, Fiber typ... |
OMIM:620011 |
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria) |
|
Death in childhood, Respiratory insufficiency, Neonatal death, Death in infancy, Neonatal respira... |
OMIM:245400 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
|
Metaphyseal irregularity, Tibial bowing, Delayed epiphyseal ossification, Bowing of the legs, Wid... |
OMIM:600081 |
Mitochondrial Dna Depletion Syndrome 2 (Myopathic Type) |
|
Facial diplegia, EMG: myopathic abnormalities, Ragged-red muscle fibers, Limb muscle weakness, Ge... |
OMIM:609560 |
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe |
|
Supraumbilical raphe, Bifid sternum |
OMIM:140850 |
Ring Chromosome 21 Syndrome |
|
Thoracic hemivertebrae, Scoliosis, Fused thoracic vertebrae, Abnormal thorax morphology |
ORPHA:1445 |
Noonan Syndrome 12 |
|
Proximal placement of thumb, Pectus excavatum, 11 pairs of ribs |
OMIM:618624 |
Aicardi Syndrome |
|
Bifid ribs, Rib fusion, Missing ribs, Block vertebrae, Supernumerary ribs, Proximal placement of ... |
OMIM:304050 |
Sifrim-Hitz-Weiss Syndrome |
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Fused cervical vertebrae, Short clavicles, Wormian bones, Flat acetabular roof |
OMIM:617159 |
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type |
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Platyspondyly, Short neck, Biconcave vertebral bodies, Pectus carinatum, Genu valgum, Interverteb... |
ORPHA:93315 |
Osteogenesis Imperfecta, Type Xvi |
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Narrow chest, Recurrent fractures, Multiple rib fractures, Osteopenia, Decreased calvarial ossifi... |
OMIM:616229 |
Verheij Syndrome |
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Hemivertebrae, Short neck, Scoliosis, Hip dislocation, Vertebral fusion |
OMIM:615583 |
Congenital Neuronal Ceroid Lipofuscinosis |
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Apnea, Central sleep apnea, Neonatal respiratory distress, Split hand, Respiratory failure |
ORPHA:168486 |
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome |
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Respiratory insufficiency due to muscle weakness, Weakness of facial musculature, Ragged-red musc... |
ORPHA:352447 |
Achondrogenesis Type 1A |
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Narrow chest, Recurrent fractures, Multiple rib fractures, Short neck, Short thorax, Abnormal enc... |
ORPHA:93299 |
Myasthenic Syndrome, Congenital, 1A, Slow-Channel |
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Intrinsic hand muscle atrophy, Type 2 muscle fiber atrophy, Hand muscle atrophy, Lower limb muscl... |
OMIM:601462 |
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome |
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Abnormal rib morphology, Recurrent fractures, Decreased calvarial ossification, Joint hyperflexib... |
ORPHA:2772 |
Short-Rib Thoracic Dysplasia 20 With Polydactyly |
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Narrow chest, Narrow greater sciatic notch, Postaxial polydactyly, Short ribs, Preaxial polydacty... |
OMIM:617925 |
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density |
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Absent ossification of cervical vertebral bodies, Neonatal death, Absent ossification of thoracic... |
OMIM:601376 |
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome |
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Abnormal muscle fiber morphology, Pectus carinatum, Hyperlordosis, Abnormal rib morphology, Facia... |
ORPHA:3068 |
Juberg-Hayward Syndrome |
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Scoliosis, Radioulnar synostosis, Abnormal rib morphology, Abnormality of the wrist, Abnormal ver... |
ORPHA:2319 |
Ulnar Hemimelia |
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Aplasia/Hypoplasia of the ulna, Upper limb phocomelia, Radial club hand, Glenoid fossa hypoplasia... |
ORPHA:93320 |
Dyggve-Melchior-Clausen Disease |
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Beaking of vertebral bodies, Hypoplastic acetabulae, Horizontal inferior border of scapula, Broad... |
ORPHA:239 |
Lethal Congenital Contracture Syndrome 2 |
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Micrognathia, Skeletal muscle atrophy, Respiratory failure, Arthrogryposis multiplex congenita |
OMIM:607598 |
Scapuloperoneal Spinal Muscular Atrophy |
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Torticollis, Scapular muscle atrophy, Amyoplasia, Peroneal muscle weakness, Small hand, Progressi... |
OMIM:181405 |
10Q22.3Q23.3 Microduplication Syndrome |
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Abnormal rib morphology, Abnormal clavicle morphology, Microretrognathia |
ORPHA:276422 |
Caudal Regression Syndrome |
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Joint stiffness, Hypoplastic vertebral bodies, Abnormal iliac wing morphology, Abnormal vertebral... |
ORPHA:3027 |
Holt-Oram Syndrome |
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Sprengel anomaly, Joint stiffness, Abnormal clavicle morphology, Pectus excavatum, Absent thumb, ... |
ORPHA:392 |
Polydactyly, Postaxial, With Dental And Vertebral Anomalies |
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Narrow chest, Spinal canal stenosis, Kyphoscoliosis, Pectus excavatum, Hypoplastic vertebral bodi... |
OMIM:263540 |
Mucopolysaccharidosis, Type X |
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Beaking of vertebral bodies, Left ventricular hypertrophy, Platyspondyly, Scoliosis, Broad clavic... |
OMIM:619698 |
Mucopolysaccharidosis, Type Iva |
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Kyphosis, Large elbow, Prominent sternum, Anterior beaking of lumbar vertebrae, Short neck, Platy... |
OMIM:253000 |
Emery-Dreifuss Muscular Dystrophy 1, X-Linked |
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Decreased cervical spine flexion due to contractures of posterior cervical muscles, Type 1 muscle... |
OMIM:310300 |
Combined Oxidative Phosphorylation Deficiency 51 |
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Aspiration pneumonia, Respiratory failure, Neonatal respiratory distress |
OMIM:619057 |
Radio-Renal Syndrome |
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Respiratory distress, Chylothorax, Hypoplasia of the radius, Micrognathia, Brachydactyly, Microme... |
ORPHA:3015 |
Lipodystrophy, Congenital Generalized, Type 4 |
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Flexion contracture, Skeletal muscle hypertrophy, Muscular dystrophy, Increased variability in mu... |
OMIM:613327 |
Spondylometaphyseal Dysplasia, Kozlowski Type |
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Enlarged joints, Kyphoscoliosis, Delayed ossification of carpal bones, Abnormal rib cage morpholo... |
OMIM:184252 |
Striatonigral Degeneration, Infantile, Mitochondrial |
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Ragged-red muscle fibers |
OMIM:500003 |
Diaphanospondylodysostosis |
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Respiratory distress, Tracheomalacia, Micrognathia, Respiratory insufficiency, Absent in utero ri... |
OMIM:608022 |
Glycogen Storage Disease Due To Aldolase A Deficiency |
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Muscle fiber atrophy, EMG: myopathic abnormalities, Exercise-induced rhabdomyolysis, Skeletal myo... |
ORPHA:57 |
Microcephaly, Short Stature, And Limb Abnormalities |
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Dislocated radial head, Clinodactyly of the 5th finger, Hypoplasia of the radius, Brachydactyly, ... |
OMIM:617604 |
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency |
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Apnea, Respiratory failure, Death in infancy |
OMIM:616277 |
Melnick-Needles Syndrome |
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Narrow chest, Short clavicles, Delayed cranial suture closure, Scoliosis, Osteolytic defects of t... |
ORPHA:2484 |
Surfactant Metabolism Dysfunction, Pulmonary, 3 |
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Respiratory distress, Apnea, Hypoxemia, Dyspnea, Neonatal death, Tachypnea, Cough, Death in infan... |
OMIM:610921 |
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development |
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Thin ribs, Craniosynostosis, Micrognathia, Brachydactyly, Arthrogryposis multiplex congenita |
OMIM:618265 |
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome |
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Sprengel anomaly, Hemivertebrae, Scoliosis, Abnormal form of the vertebral bodies, Abnormal rib m... |
ORPHA:2180 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
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Thoracic scoliosis, Pectus excavatum, Generalized joint laxity, Shoulder subluxation, Short neck,... |
ORPHA:508498 |
Congenital Disorder Of Glycosylation, Type Iig |
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Vertebral segmentation defect, Butterfly vertebrae, Left ventricular hypertrophy, Osteopenia, Sho... |
OMIM:611209 |
Typical Nemaline Myopathy |
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Facial diplegia, Nemaline bodies, Flexion contracture, Increased variability in muscle fiber diam... |
ORPHA:171436 |
Acrofacial Dysostosis Syndrome Of Rodriguez |
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Overlapping toe, Short tibia, Micrognathia, 11 pairs of ribs, Triphalangeal thumb, Oligodactyly, ... |
OMIM:201170 |
Osteogenesis Imperfecta, Type Viii |
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Recurrent fractures, Kyphosis, Wide anterior fontanel, Type 1 collagen overmodification, Thin rib... |
OMIM:610915 |
Hypokalemic Periodic Paralysis |
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Increased intramyocellular lipid droplets, Abnormal muscle fiber morphology |
ORPHA:681 |
Trappc11-Related Limb-Girdle Muscular Dystrophy R18 |
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Muscle fiber atrophy, Limb-girdle muscular dystrophy, Myopathy, Muscular dystrophy |
ORPHA:369840 |
3-Methylglutaconic Aciduria, Type Viii |
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Apnea, Respiratory failure, Death in infancy |
OMIM:617248 |
Laryngotracheoesophageal Cleft Type 4 |
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Abnormal rib morphology, Abnormal form of the vertebral bodies |
ORPHA:93941 |
Atelosteogenesis, Type Ii |
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Bifid humerus, Micrognathia, Respiratory insufficiency, Micromelia, Limb undergrowth, Short middl... |
OMIM:256050 |
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia |
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