Syndactyly Type 1 |
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Symphalangism affecting the phalanges of the hand, Finger syndactyly, Toe syndactyly |
ORPHA:93402 |
Digital Clubbing, Isolated Congenital |
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Clubbing |
OMIM:119900 |
Syndactyly, Type Iii |
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Syndactyly, Short 5th finger, Absent middle phalanx of 5th finger, 4-5 finger syndactyly |
OMIM:186100 |
Tendons, Extensor, Of Fingers, Anomalous Insertion Of |
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Abnormality of finger |
OMIM:187390 |
Trigger Thumb |
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Abnormal thumb morphology |
OMIM:190410 |
Hallux Varus And Preaxial Polysyndactyly |
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Broad hallux, Syndactyly, Hallux varus, Preaxial hand polydactyly |
OMIM:234280 |
Polydactyly, Preaxial Ii |
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Preaxial foot polydactyly, Syndactyly, Duplication of thumb phalanx, Postaxial hand polydactyly, ... |
OMIM:174500 |
Syndactyly Type 3 |
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Short toe, Finger syndactyly, Camptodactyly of finger |
ORPHA:93404 |
Polydactyly, Postaxial, Type A5 |
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Postaxial hand polydactyly, Cutaneous finger syndactyly, Syndactyly, Metacarpal synostosis |
OMIM:263450 |
Synpolydactyly 1 |
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Clinodactyly of the 5th finger, Mesoaxial hand polydactyly, 6 metacarpals, 2nd-5th toe middle pha... |
OMIM:186000 |
Intellectual Developmental Disorder, Autosomal Recessive 33 |
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Short toe, Syndactyly |
OMIM:614341 |
Syndactyly Type 2 |
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Clinodactyly of the 5th finger, 2-3 toe syndactyly, Camptodactyly of finger, Symphalangism affect... |
ORPHA:93403 |
Acropectoral Syndrome |
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Preaxial hand polydactyly, Finger syndactyly |
ORPHA:85203 |
Syndactyly, Type Iv |
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2-3 toe syndactyly, 1-5 finger complete cutaneous syndactyly, Postaxial polydactyly, Polydactyly,... |
OMIM:186200 |
Polydactyly, Postaxial, Type A1 |
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Preaxial polydactyly, Syndactyly, Postaxial hand polydactyly, Triphalangeal thumb, Broad thumb |
OMIM:174200 |
Acrocephalopolysyndactyly Type Iv |
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Joint contracture of the hand, Hand polydactyly, Syndactyly, Camptodactyly, Ulnar deviation of th... |
OMIM:201020 |
Intellectual Disability-Spasticity-Ectrodactyly Syndrome |
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Clinodactyly of the 5th finger, Abnormal hip bone morphology, Bilateral single transverse palmar ... |
ORPHA:1891 |
Thiemann Disease |
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Broad phalanx, Short phalanx of finger |
OMIM:165700 |
Syndactyly Type 5 |
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Short distal phalanx of finger, Clinodactyly of the 5th finger, 2-3 toe syndactyly, Camptodactyly... |
ORPHA:93406 |
Symphalangism With Multiple Anomalies Of Hands And Feet |
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Proximal symphalangism of hands, Absent dorsal skin creases over affected joints, Small thenar em... |
OMIM:185750 |
Spinal Muscular Atrophy With Mental Retardation |
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Syndactyly |
OMIM:271109 |
Chromosome 2Q35 Duplication Syndrome |
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Distal symphalangism of hands, 3-4 finger syndactyly, Cutaneous syndactyly, 2-3 toe syndactyly |
OMIM:185900 |
Brachydactyly, Type A1, D |
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Short distal phalanx of the thumb, Clinodactyly of the 5th finger, Aplasia/Hypoplasia of the midd... |
OMIM:616849 |
Brachydactyly-Syndactyly Syndrome |
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Short digit, Brachydactyly, Syndactyly, Short phalanx of finger, Camptodactyly, Oligodactyly, Fin... |
OMIM:610713 |
Split-Hand/Foot Malformation 2 |
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Split foot, Short phalanx of finger, Split hand, Short metacarpal, Finger syndactyly |
OMIM:313350 |
Wahab Syndrome |
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Adducted thumb, Syndactyly, Camptodactyly, Clinodactyly, Short foot, Short palm, Short metacarpal... |
OMIM:615170 |
Ectrodactyly-Polydactyly Syndrome |
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Ectrodactyly, Camptodactyly of finger, Brachydactyly, Symphalangism affecting the phalanges of th... |
ORPHA:1892 |
Liebenberg Syndrome |
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Radially deviated wrists, Metaphyseal widening, 2-3 finger syndactyly, Brachydactyly, Joint contr... |
OMIM:186550 |
Spinal Muscular Atrophy, Type Iv |
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Muscle fiber necrosis, Quadriceps muscle atrophy, Angulated muscle fibers, Hand tremor, Calf musc... |
OMIM:271150 |
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome |
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Clinodactyly of the 5th finger, Hip dysplasia, Finger syndactyly, Radioulnar synostosis |
ORPHA:71289 |
Ulnar Hypoplasia With Lobster-Claw Deformity Of Feet |
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Hypoplasia of the ulna, Short finger, Syndactyly, Split foot |
OMIM:314360 |
Sugarman Brachydactyly |
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Brachydactyly, Proximal placement of hallux, Symphalangism affecting the proximal phalanges of th... |
OMIM:272150 |
Camptosynpolydactyly, Complex |
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Cutaneous syndactyly, Syndactyly, Polydactyly, Camptodactyly |
OMIM:607539 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8 |
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Gowers sign, Pelvic girdle muscle atrophy, EMG: myopathic abnormalities, Quadriceps muscle weakne... |
OMIM:254110 |
Split-Hand/Foot Malformation 6 |
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Hand oligodactyly, Split foot, Split hand, Foot oligodactyly, Finger syndactyly, Toe syndactyly |
OMIM:225300 |
Tibial Muscular Dystrophy |
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Distal upper limb muscle weakness, Proximal muscle weakness in lower limbs, EMG: myopathic abnorm... |
ORPHA:609 |
Myopathy, Distal, 7, Adult-Onset, X-Linked |
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Respiratory insufficiency due to muscle weakness, Distal upper limb muscle weakness, Proximal mus... |
OMIM:301075 |
Banki Syndrome |
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Radial deviation of finger, Clinodactyly |
OMIM:109300 |
Congenital Radioulnar Synostosis |
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Dislocated radial head, Abnormality of the musculature of the upper arm, Talipes equinovarus, Abn... |
ORPHA:3269 |
Split-Hand/Foot Malformation 4 |
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Ectrodactyly, Aplasia/Hypoplasia of the phalanges of the toes, Split foot, Syndactyly, Triphalang... |
OMIM:605289 |
Polydactyly, Preaxial Iv |
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1-5 toe syndactyly, Preaxial polydactyly, Duplication of thumb phalanx, 3-4 finger syndactyly, Dy... |
OMIM:174700 |
Symphalangism With Multiple Anomalies Of Hands And Feet |
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Symphalangism affecting the phalanges of the toes, Symphalangism of the 4th finger, Abnormal palm... |
ORPHA:3246 |
Central Core Disease Of Muscle |
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Nemaline bodies, Ankle flexion contracture, Weakness of facial musculature, Increased variability... |
OMIM:117000 |
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2 |
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Flexion contracture, EMG: myopathic abnormalities, Muscular dystrophy, Pelvic girdle muscle weakn... |
OMIM:608423 |
Inclusion Body Myopathy And Brain White Matter Abnormalities |
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Increased endomysial connective tissue, Angulated muscle fibers, Proximal muscle weakness in lowe... |
OMIM:619733 |
Brachydactyly-Syndactyly, Zhao Type |
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Short fifth metatarsal, Short middle phalanx of the 2nd finger, Symphalangism affecting the phala... |
ORPHA:93409 |
Vacuolar Neuromyopathy |
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Distal muscle weakness, Rimmed vacuoles, Muscular dystrophy, Foot dorsiflexor weakness, Neck flex... |
OMIM:601846 |
Myopathy, Myosin Storage, Autosomal Dominant |
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Scapuloperoneal amyotrophy, EMG: myopathic abnormalities, Pelvic girdle muscle weakness, Calf mus... |
OMIM:608358 |
Syndactyly Type 4 |
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Short tibia, Camptodactyly of finger, 6 metacarpals, Triphalangeal thumb, Hand polydactyly, Foot ... |
ORPHA:93405 |
Polyglucosan Body Myopathy 2 |
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Peroneal muscle weakness, Hand muscle weakness, Pelvic girdle amyotrophy, Distal muscle weakness,... |
OMIM:616199 |
Radial Hemimelia |
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Abnormality of the scaphoid, Abnormality of the trapezium, Deviation of the hand or of fingers of... |
ORPHA:93321 |
Triphalangeal Thumb, Nonopposable |
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Triphalangeal thumb, Polydactyly |
OMIM:190600 |
Myopathy, Scapulohumeroperoneal |
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Nemaline bodies, Centrally nucleated skeletal muscle fibers, Facial palsy, Increased variability ... |
OMIM:616852 |
Brachydactyly, Type A2 |
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Medially deviated second toe, Clinodactyly of the 5th finger, 2-3 toe syndactyly, Triangular shap... |
OMIM:112600 |
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 3 |
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Increased endomysial connective tissue, Proximal muscle weakness in lower limbs, Rimmed vacuoles,... |
OMIM:615424 |
Syndactyly, Type V |
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Short distal phalanx of finger, Carpal synostosis, 3-4 toe syndactyly, Joint contracture of the h... |
OMIM:186300 |
Myopathy, Centronuclear, 1 |
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Flexion contracture, Skeletal muscle hypertrophy, EMG: myopathic abnormalities, Facial palsy, Pro... |
OMIM:160150 |
Episodic Muscle Weakness, X-Linked |
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Muscle weakness |
OMIM:300211 |
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
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Lens subluxation, Platyspondyly, Retinal thinning, Rhizomelia, Abnormal epiphysis morphology, Ovo... |
ORPHA:85167 |
Chromosome 2Q31.1 Duplication Syndrome |
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Talipes equinovarus, Absent thumb, 3-4 finger cutaneous syndactyly, Triphalangeal thumb, Short thumb |
OMIM:613681 |
Tubular Aggregate Myopathy |
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EMG: myopathic abnormalities, Type 2 muscle fiber atrophy, Increased variability in muscle fiber ... |
ORPHA:2593 |
Brachydactyly, Type A3 |
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Rhomboid or triangular shaped 5th finger middle phalanx, Clinodactyly of the 5th finger, Cone-sha... |
OMIM:112700 |
Gne Myopathy |
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EMG: myopathic abnormalities, Rimmed vacuoles, Increased variability in muscle fiber diameter, Li... |
ORPHA:602 |
Familial Digital Arthropathy-Brachydactyly |
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Short distal phalanx of finger, Shortening of all middle phalanges of the toes, Osteoarthritis of... |
ORPHA:85169 |
Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant |
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Internally nucleated skeletal muscle fibers, Z-band streaming, Distal muscle weakness, Rimmed vac... |
OMIM:618655 |
Mesoaxial Synostotic Syndactyly With Phalangeal Reduction |
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Clinodactyly of the 5th finger, 2-3 toe syndactyly, Aplasia/Hypoplasia of the hallux, Finger synd... |
ORPHA:157801 |
Brachydactyly, Type A1, C |
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Short distal phalanx of finger, Bilateral talipes equinovarus, Short middle phalanx of the 2nd fi... |
OMIM:615072 |
Ethanolaminosis |
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Cardiomegaly |
OMIM:227150 |
Brachydactyly Type A7 |
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Medially deviated second toe, Clinodactyly of the 5th finger, Short 2nd finger, 2-3 toe syndactyl... |
ORPHA:93397 |
Myopathy, Distal, With Rimmed Vacuoles |
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Internally nucleated skeletal muscle fibers, Z-band streaming, EMG: myopathic abnormalities, Rimm... |
OMIM:617158 |
Muscular Dystrophy, Limb-Girdle, Type 1H |
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Calf muscle hypertrophy, Muscular dystrophy, Shoulder girdle muscle atrophy, Muscle weakness, Pro... |
OMIM:613530 |
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly |
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Syndactyly, 2-4 toe syndactyly |
OMIM:241000 |
Myofibrillar Myopathy 11 |
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Gowers sign, Z-band streaming, EMG: myopathic abnormalities, Calf muscle hypertrophy, Increased v... |
OMIM:619178 |
Syndactyly, Mesoaxial Synostotic, With Phalangeal Reduction |
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Clinodactyly of the 5th finger, Aplasia/Hypoplasia of the hallux, Aplasia/Hypoplasia of the middl... |
OMIM:609432 |
Digital Arthropathy-Brachydactyly, Familial |
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Short distal phalanx of finger, Short distal phalanx of toe, Short middle phalanx of toe, Brachyt... |
OMIM:606835 |
Split-Foot Malformation With Mesoaxial Polydactyly |
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Mesoaxial hand polydactyly, Split foot, 4-5 toe syndactyly, Split hand, 1-2 toe syndactyly |
OMIM:616890 |
Heart-Hand Syndrome, Slovenian Type |
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Brachydactyly, Aplasia of the middle phalanx of the hand, Syndactyly, Clinodactyly |
OMIM:610140 |
Brachydactyly Type B |
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Short distal phalanx of finger, Broad hallux phalanx, Synostosis of carpal bones, Type B brachyda... |
ORPHA:93383 |
Craniosynostosis, Adelaide Type |
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Cone-shaped epiphyses of the toes, Carpal bone malsegmentation, Cone-shaped epiphyses of the phal... |
OMIM:600593 |
Craniosynostosis, Philadelphia Type |
|
Finger syndactyly |
ORPHA:1527 |
Skeletal Dysplasia With Delayed Epiphyseal And Carpal Bone Ossification |
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Delayed epiphyseal ossification, Clinodactyly of the 5th finger, Delayed ossification of carpal b... |
OMIM:182255 |
Brachydactyly Type A2 |
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Type A2 brachydactyly, Clinodactyly of the 5th finger, Aplasia/Hypoplasia of the middle phalanx o... |
ORPHA:93396 |
Brachydactyly Type B2 |
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Short distal phalanx of finger, Short toe, Short distal phalanx of toe, Synostosis of carpal bone... |
ORPHA:140908 |
Cleft-Limb-Heart Malformation Syndrome |
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Syndactyly |
OMIM:215850 |
Syndactyly-Polydactyly-Earlobe Syndrome |
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Bifid distal phalanx of toe, 1-2 toe complete cutaneous syndactyly, Preaxial foot polydactyly, Br... |
OMIM:186350 |
Brachydactyly, Type A1, B |
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Short distal phalanx of finger, Cone-shaped epiphyses of the phalanges of the hand, Broad distal ... |
OMIM:607004 |
Hereditary Myopathy With Early Respiratory Failure |
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Hypertrophied muscle fibers, Internally nucleated skeletal muscle fibers, Calf muscle hypertrophy... |
ORPHA:178464 |
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A |
|
Increased endomysial connective tissue, EMG: myopathic abnormalities, Distal muscle weakness, Inc... |
ORPHA:266 |
Brachydactyly, Type C |
|
Pseudoepiphysis of the 2nd finger, Triangular epiphysis of the middle phalanx of the 2nd finger, ... |
OMIM:113100 |
Myopathy, Centronuclear, 2 |
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Respiratory insufficiency due to muscle weakness, Gowers sign, Talipes equinovarus, Flexion contr... |
OMIM:255200 |
Split-Hand/Foot Malformation 1 |
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Ectrodactyly, Hand oligodactyly, Split foot, Syndactyly, Broad hallux, Triphalangeal thumb, Clino... |
OMIM:183600 |
Santos Syndrome |
|
Talipes equinovarus, Postaxial polydactyly, Preaxial polydactyly, Syndactyly, Brachydactyly, Poly... |
OMIM:613005 |
Arthrogryposis Multiplex Congenita 3, Myogenic Type |
|
Gowers sign, Increased endomysial connective tissue, Flexion contracture of finger, Talipes equin... |
OMIM:618484 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26 |
|
Muscle fiber necrosis, Proximal muscle weakness in lower limbs, Calf muscle hypertrophy, Increase... |
OMIM:618848 |
Inclusion Body Myositis |
|
Abnormal muscle fiber morphology, Quadriceps muscle weakness, Rimmed vacuoles, Ragged-red muscle ... |
ORPHA:611 |
Pomt1-Related Limb-Girdle Muscular Dystrophy R11 |
|
Gowers sign, Thigh hypertrophy, Calf muscle hypertrophy, Left ventricular hypertrophy, Increased ... |
ORPHA:86812 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7 |
|
Proximal muscle weakness in lower limbs, Calf muscle hypertrophy, Muscular dystrophy, Increased v... |
OMIM:601954 |
Aphalangia, Partial, With Syndactyly And Duplication Of Metatarsal Iv |
|
Duplication of metatarsal bones, Cutaneous finger syndactyly, Syndactyly, Aplasia/Hypoplasia of toe |
OMIM:600384 |
Nonaka Myopathy |
|
EMG: myopathic abnormalities, Rimmed vacuoles, Distal muscle weakness, Distal amyotrophy, Deposit... |
OMIM:605820 |
Brachydactyly, Type A1 |
|
Short distal phalanx of finger, Clinodactyly of the 5th finger, Aplasia/Hypoplasia of the middle ... |
OMIM:112500 |
Spinal Muscular Atrophy, Infantile, James Type |
|
Hip contracture, Short stature, Distal muscle weakness, Increased variability in muscle fiber dia... |
OMIM:619042 |
Facioscapulohumeral Muscular Dystrophy 3, Digenic |
|
Angulated muscle fibers, Weakness of facial musculature, Proximal muscle weakness, Shoulder girdl... |
OMIM:619477 |
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3 |
|
Decreased movement range in interphalangeal joints, Rimmed vacuoles, Pelvic girdle muscle weaknes... |
OMIM:609115 |
Alpha-B Crystallin-Related Late-Onset Myopathy |
|
Facial diplegia, Progressive proximal muscle weakness, EMG: myopathic abnormalities, Increased va... |
ORPHA:399058 |
Hypertension And Brachydactyly Syndrome |
|
Cone-shaped epiphysis, Brachydactyly, Short phalanx of finger, Short metacarpal |
OMIM:112410 |
Femur-Fibula-Ulna Complex |
|
Abnormality of femur morphology, Abnormal morphology of ulna, Split hand, Short humerus, Micromel... |
ORPHA:2019 |
Peripheral Dysostosis |
|
Cone-shaped epiphyses of the phalanges of the hand, Short phalanx of finger |
OMIM:170700 |
Rigid Spine Muscular Dystrophy 1 |
|
Increased endomysial connective tissue, Poor head control, Flexion contracture, Short stature, Mu... |
OMIM:602771 |
Langer Mesomelic Dysplasia |
|
Abnormal morphology of ulna, Aplasia/Hypoplasia of the fibula, Micromelia, Short femoral neck, Me... |
ORPHA:2632 |
Crossed Polysyndactyly |
|
Postaxial hand polydactyly, Aplasia/Hypoplasia of the thumb, Finger syndactyly |
ORPHA:2935 |
Oculopharyngodistal Myopathy 2 |
|
Increased endomysial connective tissue, EMG: myopathic abnormalities, Rimmed vacuoles, Increased ... |
OMIM:618940 |
Myopathy, Congenital Proximal, With Minicore Lesions |
|
Z-band streaming, Minicore myopathy, Type 1 muscle fiber predominance, Fatty replacement of skele... |
OMIM:618823 |
Larsen-Like Osseous Dysplasia-Short Stature Syndrome |
|
Abnormal cardiac septum morphology, Corneal opacity, Clinodactyly of the 5th finger, Reduced bone... |
ORPHA:2370 |
Winchester Syndrome |
|
Broad metacarpals, Kyphosis, Hirsutism, Corneal opacity, Generalized osteoporosis, Carpal osteoly... |
OMIM:277950 |
Moderate Multiminicore Disease With Hand Involvement |
|
Intrinsic hand muscle atrophy, Distal upper limb muscle weakness, Talipes equinovarus, Type 1 mus... |
ORPHA:178145 |
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance |
|
Short stature, Proximal muscle weakness in lower limbs, Weakness of facial musculature, Neck flex... |
ORPHA:457050 |
Muscular Dystrophy, Congenital, Merosin-Positive |
|
Respiratory insufficiency due to muscle weakness, Flexion contracture, Increased variability in m... |
OMIM:609456 |
Myopathy, Congenital, With Fiber-Type Disproportion |
|
Type 1 fibers relatively smaller than type 2 fibers, Facial palsy, Congenital hip dislocation, Pr... |
OMIM:255310 |
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 |
Distal Monosomy 6P |
|
Vertebral segmentation defect, Corneal opacity, Clinodactyly of the 5th finger, Atrial septal def... |
ORPHA:96125 |
Summitt Syndrome |
|
Syndactyly |
OMIM:272350 |
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome |
|
Tibial bowing, Hand oligodactyly, Abnormality of the hand, Short tibia, Syndactyly, Foot oligodac... |
OMIM:246570 |
Brachydactyly-Arterial Hypertension Syndrome |
|
Brachydactyly, Short phalanx of finger, Short metacarpal |
ORPHA:1276 |
Fibular Hemimelia |
|
Craniosynostosis, Arthralgia of the hip, Thrombocytopenia, Abnormality of fibula morphology, Genu... |
ORPHA:93323 |
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome |
|
Clinodactyly of the 5th finger, Thick eyebrow, Scoliosis, Pectus carinatum, Radioulnar synostosis... |
ORPHA:3268 |
Myh7-Related Late-Onset Scapuloperoneal Muscular Dystrophy |
|
Hand muscle weakness, Increased endomysial connective tissue, Beevor's sign, EMG: myopathic abnor... |
ORPHA:437572 |
Multiple Synostoses Syndrome 3 |
|
Limited interphalangeal movement, Cutaneous syndactyly of toes, Metatarsal synostosis, Broad hall... |
OMIM:612961 |
Minicore Myopathy With External Ophthalmoplegia |
|
Nemaline bodies, Muscular dystrophy, Increased variability in muscle fiber diameter, Type 1 and t... |
OMIM:255320 |
Distal Myopathy, Welander Type |
|
Intrinsic hand muscle atrophy, Distal upper limb muscle weakness, EMG: myopathic abnormalities, R... |
ORPHA:603 |
Proximal Myopathy With Extrapyramidal Signs |
|
Resting tremor, Increased variability in muscle fiber diameter, Proximal muscle weakness, Central... |
ORPHA:401768 |
Myopathy, Myosin Storage, Autosomal Recessive |
|
Proximal muscle weakness, Short stature, EMG: myopathic abnormalities, Calf muscle hypertrophy, L... |
OMIM:255160 |
Salih Myopathy |
|
Flexion contracture, Calf muscle hypertrophy, Generalized muscle weakness, Facial palsy, Centrall... |
OMIM:611705 |
Heart-Hand Syndrome Type 2 |
|
Joint stiffness, Abnormal clavicle morphology, Abnormal morphology of ulna, Asymmetry of the thor... |
ORPHA:1350 |
Mitochondrial Myopathy With Diabetes |
|
EMG: myopathic abnormalities, Weakness of orbicularis oculi muscle, Ragged-red muscle fibers, Lim... |
OMIM:500002 |
Myopathy, Isolated Mitochondrial, Autosomal Dominant |
|
Short stature, Proximal muscle weakness in lower limbs, Neck flexor weakness, Ragged-red muscle f... |
OMIM:616209 |
Welander Distal Myopathy |
|
Distal muscle weakness, Rimmed vacuoles, Distal amyotrophy |
OMIM:604454 |
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies |
|
Dental malocclusion, 3-4 toe syndactyly, Persistence of primary teeth, Malar flattening, Ectopia ... |
OMIM:618727 |
Myopathy, Congenital, With Structured Cores And Z-Line Abnormalities |
|
Muscle fiber atrophy, Abnormal Z disc morphology, Internally nucleated skeletal muscle fibers, We... |
OMIM:618654 |
Symbrachydactyly Of Hands And Feet |
|
Vertebral segmentation defect, Abnormality of the humeroulnar joint, Abnormal morphology of ulna,... |
ORPHA:1570 |
Autosomal Recessive Centronuclear Myopathy |
|
Facial diplegia, Hip contracture, Gowers sign, Talipes equinovarus, Left ventricular hypertrophy,... |
ORPHA:169186 |
Myopathy, Centronuclear, 4 |
|
Centrally nucleated skeletal muscle fibers, Muscle weakness |
OMIM:614807 |
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome |
|
Multiple joint contractures, Poor head control, EMG: myopathic abnormalities, Minicore myopathy, ... |
ORPHA:486815 |
Inclusion Body Myositis |
|
Distal muscle weakness, Rimmed vacuoles, Inflammatory myopathy, Proximal muscle weakness |
OMIM:147421 |
Zebra Body Myopathy |
|
Torticollis, Muscle fiber necrosis, Nemaline bodies, Gowers sign, EMG: myopathic abnormalities, R... |
ORPHA:97240 |
Prenatal Bowing |
|
Bowing of the long bones |
OMIM:264050 |
Congenital Muscular Dystrophy, Ullrich Type |
|
Torticollis, Diaphragmatic weakness, Increased endomysial connective tissue, Abnormal muscle fibe... |
ORPHA:75840 |
Acropectorovertebral Dysplasia |
|
Finger syndactyly, Radial deviation of the 2nd finger, Synostosis of carpal bones, Broad thumb, B... |
OMIM:102510 |
Mucolipidosis Type Iii |
|
Joint stiffness, Corneal opacity, Large iliac wing, Abnormal hip bone morphology, Reduced bone mi... |
ORPHA:577 |
Kniest Dysplasia |
|
Enlarged joints, Flexion contracture of finger, Short neck, Platyspondyly, Abnormal bone structur... |
ORPHA:485 |
Myopathy, X-Linked, With Postural Muscle Atrophy |
|
Hamstring contractures, Proximal muscle weakness, Skeletal muscle hypertrophy, EMG: myopathic abn... |
OMIM:300696 |
Metaphyseal Anadysplasia |
|
Joint stiffness, Abnormal morphology of ulna, Abnormal ulnar metaphysis morphology, Aplasia/Hypop... |
ORPHA:1040 |
Nemaline Myopathy 2 |
|
Weakness of facial musculature, Increased variability in muscle fiber diameter, Neck flexor weakn... |
OMIM:256030 |
Robin Sequence-Oligodactyly Syndrome |
|
Clinodactyly of the 5th finger, Abnormal morphology of ulna, Hand oligodactyly, Micrognathia, Abn... |
ORPHA:3104 |
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset |
|
Respiratory insufficiency due to muscle weakness, Increased variability in muscle fiber diameter,... |
OMIM:300717 |
Myopathy, Myofibrillar, 9, With Early Respiratory Failure |
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Diaphragmatic weakness, Calf muscle hypertrophy, Quadriceps muscle weakness, Increased variabilit... |
OMIM:603689 |
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 2 |
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Muscle fiber atrophy, Rimmed vacuoles, Myositis, Muscle weakness, Centrally nucleated skeletal mu... |
OMIM:615422 |
Pseudoachondroplasia |
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Irregular carpal bones, Cone-shaped epiphysis, Hypoplasia of the capital femoral epiphysis, Irreg... |
ORPHA:750 |
Bethlem Myopathy 2 |
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Flexion contracture, Increased variability in muscle fiber diameter, Muscle weakness, Proximal mu... |
OMIM:616471 |
Metatropic Dysplasia |
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Enlarged joints, Halberd-shaped pelvis, Cone-shaped epiphysis, Platyspondyly, Hyperplasia of the ... |
OMIM:156530 |
Heart-Hand Syndrome, Spanish Type |
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Short middle phalanx of finger, Brachydactyly, Ulnar deviation of the 2nd finger |
OMIM:140450 |
Proximal Symphalangism |
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Clinodactyly of the 5th finger, Elbow ankylosis, Finger syndactyly, Camptodactyly of finger, Syno... |
ORPHA:3250 |
Brachydactyly, Type B1 |
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Joint contracture of the hand, Micropenis, Cutaneous finger syndactyly, Hypoplastic sacrum, Hemiv... |
OMIM:113000 |
Congenital Absence Of Upper Arm And Forearm With Hand Present |
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Abnormal cardiac septum morphology, Abnormal hip bone morphology, Upper limb phocomelia, Abnormal... |
ORPHA:294975 |
Polydactyly, Preaxial Iii |
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Preaxial polydactyly, Triphalangeal thumb |
OMIM:174600 |
Myopathy, Myofibrillar, 8 |
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Nemaline bodies, Centrally nucleated skeletal muscle fibers, Gowers sign, Joint contracture of th... |
OMIM:617258 |
Marinesco-Sjogren Syndrome |
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Coxa valga, Flexion contracture, Short stature, Rimmed vacuoles, Progressive muscle weakness, Cub... |
OMIM:248800 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27 |
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Distal upper limb muscle weakness, Skeletal muscle hypertrophy, Proximal muscle weakness in lower... |
OMIM:619566 |
Acromesomelic Dysplasia, Hunter-Thompson Type |
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Bilateral single transverse palmar creases, Brachydactyly, Abnormality of the ankles, Cuboidal me... |
ORPHA:968 |
Postaxial Oligodactyly, Tetramelic |
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Aplasia of the 5th metacarpal, Radial bowing, Lunate-triquetral fusion, Absent fifth metatarsal, ... |
OMIM:176240 |
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia |
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Split foot, Aplasia/Hypoplasia of the fibula, Brachydactyly, Short phalanx of finger, Fibular apl... |
OMIM:113310 |
Myopathy, Myofibrillar, 3 |
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Myofibrillar myopathy, Distal amyotrophy, Proximal muscle weakness, Achilles tendon contracture, ... |
OMIM:609200 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh |
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Intrinsic hand muscle atrophy, Areflexia of upper limbs, First dorsal interossei muscle weakness,... |
OMIM:619574 |
Finnish Upper Limb-Onset Distal Myopathy |
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Intrinsic hand muscle atrophy, Amyotrophy of ankle musculature, Joint contracture of the hand, Pr... |
ORPHA:399086 |
Ophthalmomandibulomelic Dysplasia |
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Corneal opacity, Temporomandibular joint ankylosis, Lateral humeral condyle aplasia, Camptodactyl... |
ORPHA:2741 |
Multicentric Carpotarsal Osteolysis Syndrome |
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Ulnar deviation of the hand, Corneal opacity, Inability to walk, Metatarsal osteolysis, Hypertens... |
OMIM:166300 |
Eyebrows, Duplication Of, With Stretchable Skin And Syndactyly |
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2-3 toe syndactyly, 2-4 finger syndactyly |
OMIM:227210 |
Synpolydactyly 2 |
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Carpal synostosis, Polydactyly, Metatarsal synostosis, Tarsal synostosis, Metacarpal synostosis, ... |
OMIM:608180 |
Leri-Weill Dyschondrosteosis |
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Short toe, Tibial bowing, Abnormal femoral neck morphology, Radial bowing, Coxa valga, Abnormal c... |
OMIM:127300 |
Metaphyseal Chondrodysplasia, Schmid Type |
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Femoral bowing, Platyspondyly, Short long bone, Metaphyseal cupping of proximal phalanges, Metaph... |
ORPHA:174 |
Mucopolysaccharidosis Type 4 |
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Short neck, Platyspondyly, Pectus carinatum, Carious teeth, Genu valgum, Abnormal epiphysis morph... |
ORPHA:582 |
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12 |
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Flexion contracture of finger, Increased endomysial connective tissue, Proximal muscle weakness i... |
ORPHA:206549 |
Fatco Syndrome |
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Absent hand, Abnormality of tibia morphology, Abnormality of fibula morphology, Tarsal synostosis... |
ORPHA:2492 |
Muscular Dystrophy, Congenital, Davignon-Chauveau Type |
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Neck muscle weakness, Muscular dystrophy, Centrally nucleated skeletal muscle fibers, Respiratory... |
OMIM:617066 |
Distal Myopathy, Tateyama Type |
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Intrinsic hand muscle atrophy, EMG: myopathic abnormalities, Increased variability in muscle fibe... |
ORPHA:488650 |
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome |
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Inability to walk, Hepatomegaly, Micronodular cirrhosis, Congenital hip dislocation, Athetosis, O... |
ORPHA:404454 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 15 |
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Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Myopathy |
OMIM:618992 |
Bowen-Conradi Syndrome |
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Micrognathia, Abnormal joint morphology, Clinodactyly of the 5th finger, Rocker bottom foot |
OMIM:211180 |
Camptobrachydactyly |
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Camptodactyly of finger, Brachydactyly, Ulnar deviation of finger, Aplasia/Hypoplasia of the thum... |
ORPHA:1319 |
Bardet-Biedl Syndrome 5 |
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Syndactyly, Brachydactyly, Polydactyly |
OMIM:615983 |
Myopathy, Distal, 5 |
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Rimmed vacuoles, Distal amyotrophy, Muscle fiber splitting, Facial palsy, Myopathy |
OMIM:617030 |
Intellectual Developmental Disorder, Autosomal Dominant 4 |
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Short toe, Syndactyly |
OMIM:612581 |
Aphalangy-Syndactyly-Microcephaly Syndrome |
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Short distal phalanx of finger, Split foot, Camptodactyly of finger, Symphalangism affecting the ... |
ORPHA:1113 |
Myopathy, Distal, 3 |
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Joint contracture of the hand, Late-onset proximal muscle weakness, EMG: myopathic abnormalities,... |
OMIM:610099 |
Cardiomyopathy, Dilated, 1X |
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Calf muscle hypertrophy, Gowers sign, Increased variability in muscle fiber diameter, Proximal mu... |
OMIM:611615 |
Feingold Syndrome 2 |
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3-4 toe syndactyly, 2-3 toe syndactyly, Short middle phalanx of the 2nd finger, Short thumb, Shor... |
OMIM:614326 |
Brachydactyly, Type B2 |
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Short distal phalanx of finger, Carpal synostosis, Aplasia/Hypoplasia of the middle phalanges of ... |
OMIM:611377 |
Congenital Disorder Of Glycosylation, Type Iik |
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Epiphyseal dysplasia, Metaphyseal dysplasia, Kyphoscoliosis, Hepatomegaly, Malar flattening, Elev... |
OMIM:614727 |
Myopathy, Myofibrillar, 5 |
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Myofibrillar myopathy, Muscle fiber splitting, Muscle fiber cytoplasmatic inclusion bodies, Proxi... |
OMIM:609524 |
Myopathy, Myofibrillar, 2 |
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Late-onset proximal muscle weakness, EMG: myopathic abnormalities, Muscular dystrophy, Limb-girdl... |
OMIM:608810 |
Acromesomelic Dysplasia 2C |
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Distal femoral bowing, Radial bowing, Hypoplasia of the radius, Short tibia, Shortening of all pr... |
OMIM:201250 |
Brachydactyly Type C |
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Clinodactyly of the 5th finger, Stippling of the epiphysis of the distal phalanx of the thumb, Ps... |
ORPHA:93384 |
Epiphyseal Dysplasia, Multiple, 5 |
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Epiphyseal dysplasia, Coxa vara, Metaphyseal irregularity, Delayed tarsal ossification, Delayed o... |
OMIM:607078 |
Osteoporosis |
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Osteoporosis |
OMIM:166710 |
Aurocephalosyndactyly |
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4-5 toe syndactyly |
OMIM:109050 |
Platyspondylic Dysplasia, Torrance Type |
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Short distal phalanx of finger, Metaphyseal cupping, Malar flattening, Hydrops fetalis, Micromeli... |
ORPHA:85166 |
Brachydactyly, Preaxial, With Hallux Varus And Thumb Abduction |
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Short distal phalanx of finger, Short hallux, Hallux varus, Hitchhiker thumb, Short metatarsal, S... |
OMIM:112450 |
Spondyloepimetaphyseal Dysplasia, Irapa Type |
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Coxa vara, Short metacarpal, Osteoarthritis, Micromelia, Synostosis of carpal bones, Upper limb u... |
ORPHA:93351 |
Osteopathia Striata-Pigmentary Dermopathy-White Forelock Syndrome |
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Abnormal metaphysis morphology, Abnormal pelvic girdle bone morphology, White forelock, Coarse me... |
ORPHA:2779 |
Developmental And Speech Delay Due To Sox5 Deficiency |
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2-3 toe syndactyly, Lumbar hyperlordosis, Butterfly vertebrae, Self-injurious behavior, Mitral re... |
ORPHA:313892 |
Distal Myopathy With Anterior Tibial Onset |
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Intrinsic hand muscle atrophy, Finger flexor weakness, Progressive proximal muscle weakness, Limb... |
ORPHA:178400 |
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4 |
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Abdominal wall muscle weakness, Muscle fiber splitting, Proximal muscle weakness, Scapular wingin... |
OMIM:618129 |
Multiminicore Myopathy |
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Respiratory insufficiency due to muscle weakness, Abnormal muscle fiber morphology, Short stature... |
ORPHA:598 |
Exercise Intolerance, Riboflavin-Responsive |
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Ragged-red muscle fibers |
OMIM:616839 |
Weismann-Netter Syndrome |
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Abnormality of femur morphology, Tibial bowing, Kyphosis, Abnormal morphology of ulna, Abnormal h... |
ORPHA:3344 |
Alpha-Mannosidosis |
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Avascular necrosis, Dental malocclusion, Corneal opacity, Kyphosis, Hepatomegaly, Splenomegaly, S... |
ORPHA:61 |
Boomerang Dysplasia |
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Narrow chest, Abnormality of femur morphology, Abnormal bone ossification, Abnormal morphology of... |
ORPHA:1263 |
Wolf-Hirschhorn Syndrome |
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Craniofacial asymmetry, Radioulnar synostosis, Ventricular septal defect, Biliary tract abnormali... |
OMIM:194190 |
Postaxial Tetramelic Oligodactyly |
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Abnormal metacarpal morphology, Abnormality of finger, Oligodactyly, Ectrodactyly |
ORPHA:2730 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15 |
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Gowers sign, Rimmed vacuoles, Increased variability in muscle fiber diameter, Muscle weakness, Pr... |
OMIM:612937 |
Split hand/foot malformation 1 (SHFM1) |
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2-3 toe syndactyly, Split foot, Split hand, Cutaneous finger syndactyly, Toe syndactyly |
DECIPHER:46 |
Talo-Patello-Scaphoid Osteolysis |
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Enlarged joints, Osteolysis of talus, Short 4th metacarpal, Osteolysis of patellae, Osteolysis of... |
ORPHA:50809 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3 |
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Double outlet right ventricle, Vertebral segmentation defect, Bicuspid aortic valve, Talipes equi... |
OMIM:618845 |
Myopathy, Proximal, With Ophthalmoplegia |
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Distal muscle weakness, Muscle fiber inclusion bodies, Proximal muscle weakness, Neck muscle weak... |
OMIM:605637 |
Osebold-Remondini Syndrome |
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Carpal synostosis, Short toe, Dysplastic distal radial epiphyses, Hypoplasia of the radius, Short... |
OMIM:112910 |
15Q11Q13 Microduplication Syndrome |
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Clinodactyly of the 5th finger, Finger syndactyly |
ORPHA:238446 |
Axial Spondylometaphyseal Dysplasia |
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Osteopenia, Platyspondyly, Upper limb undergrowth, Retinal dystrophy, Optic atrophy, Cataract, Fl... |
ORPHA:168549 |
Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency |
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Increased variability in muscle fiber diameter, Congenital muscular dystrophy, Fatty replacement ... |
OMIM:613204 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25 |
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Muscle fiber necrosis, Muscular dystrophy, Increased variability in muscle fiber diameter, Limb-g... |
OMIM:616812 |
X-Linked Centronuclear Myopathy |
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Necklace skeletal muscle fibers, Fatigable weakness of swallowing muscles, Weakness of facial mus... |
ORPHA:596 |
Spondylometaphyseal Dysplasia, Type A4 |
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Sclerotic humeral metaphysis, Metaphyseal irregularity, Costochondral joint sclerosis, Broad isch... |
OMIM:609052 |
Triphalangeal Thumbs With Brachyectrodactyly |
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Short 2nd finger, Split foot, Brachydactyly, Triphalangeal thumb, Short 3rd toe, Split hand |
OMIM:190680 |
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 |
Amyotrophic Lateral Sclerosis 21 |
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Hand muscle weakness, Distal muscle weakness, Rimmed vacuoles, Increased variability in muscle fi... |
OMIM:606070 |
Ulna Metaphyseal Dysplasia Syndrome |
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Nephrolithiasis, Abnormal morphology of ulna, Abnormal hip bone morphology, Abnormal form of the ... |
ORPHA:1837 |
Laurin-Sandrow Syndrome |
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Absent radius, Syndactyly, Triphalangeal thumb, Patellar aplasia, Short foot, Hand polydactyly, F... |
OMIM:135750 |
Léri-Weill Dyschondrosteosis |
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Abnormality of femur morphology, Hypoplasia of the radius, Cone-shaped epiphysis, Micromelia, Abn... |
ORPHA:240 |
Oculopharyngodistal Myopathy 3 |
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Increased endomysial connective tissue, Internally nucleated skeletal muscle fibers, Weakness of ... |
OMIM:619473 |
Chondrodysplasia, Blomstrand Type |
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Advanced ossification of carpal bones, Malar flattening, Short ribs, Micrognathia, Flared metaphy... |
OMIM:215045 |
Myopathy, Distal, 1 |
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Amyotrophy of ankle musculature, Proximal muscle weakness, Toe extensor amyotrophy, Rimmed vacuol... |
OMIM:160500 |
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia |
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Aplasia/Hypoplasia of the thumb, Anterior vertebral fusion, Lateral clavicle hook, Malar flatteni... |
OMIM:171480 |
Split-Foot Deformity With Mandibulofacial Dysostosis |
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Split hand, Toe syndactyly, Split foot |
OMIM:183700 |
Dnajb6-Related Limb-Girdle Muscular Dystrophy D1 |
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Abnormal muscle fiber morphology, Rimmed vacuoles, Increased variability in muscle fiber diameter... |
ORPHA:34516 |
Otopalatodigital Syndrome Type 1 |
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Short distal phalanx of finger, Increased bone mineral density, Abnormal vertebral segmentation a... |
ORPHA:90650 |
Spondylometaphyseal Dysplasia With Corneal Dystrophy |
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Narrow chest, Beaking of vertebral bodies, Corneal opacity, Increased intervertebral space, Short... |
OMIM:618961 |
Aarskog-Scott Syndrome |
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Clinodactyly of the 5th finger, Pectus excavatum, Finger syndactyly, Genu recurvatum, Small hand,... |
ORPHA:915 |
Pierre Robin Sequence With Facial And Digital Anomalies |
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Short distal phalanx of finger, Clinodactyly of the 5th finger, Easily subluxated first metacarpo... |
OMIM:311895 |
Multiple Epiphyseal Dysplasia Type 4 |
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Short metacarpal, Accelerated skeletal maturation, Upper limb undergrowth, Arthralgia of the hip,... |
ORPHA:93307 |
Thrombocytopenia-Absent Radius Syndrome |
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Aplasia/Hypoplasia of the ulna, Abnormal cardiac septum morphology, Horseshoe kidney, Patellar di... |
ORPHA:3320 |
Endosteal Hyperostosis, Worth Type |
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Craniofacial hyperostosis, Facial palsy, Clavicular sclerosis, Abnormal form of the vertebral bod... |
ORPHA:2790 |
Multicentric Osteolysis, Nodulosis, And Arthropathy |
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Osteopenia, Delayed eruption of teeth, Thin metacarpal cortices, C1-C2 subluxation, Thin bony cor... |
OMIM:259600 |
Metatropic Dysplasia |
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Narrow chest, Kyphosis, Abnormal enchondral ossification, Halberd-shaped pelvis, Clinodactyly of ... |
ORPHA:2635 |
Isolated Split Hand-Split Foot Malformation |
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Split hand, Absent hand, Oligodactyly, Finger syndactyly |
ORPHA:2440 |
Ulnar Hemimelia |
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Aplasia/Hypoplasia of the ulna, Upper limb phocomelia, Radial club hand, Glenoid fossa hypoplasia... |
ORPHA:93320 |
Metaphyseal Chondrodysplasia, Spahr Type |
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Metaphyseal dysplasia, Reduced bone mineral density, Scoliosis, Genu varum, Short lower limbs, Ca... |
ORPHA:2501 |
Mucopolysaccharidosis, Type Iva |
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Pointed proximal second through fifth metacarpals, Hepatomegaly, Prominent sternum, Anterior beak... |
OMIM:253000 |
Distal Nebulin Myopathy |
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Nemaline bodies, Progressive proximal muscle weakness, Weakness of facial musculature, EMG: myopa... |
ORPHA:399103 |
Epiphyseal Dysplasia, Multiple, 7 |
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Epiphyseal dysplasia, Advanced ossification of carpal bones, Monkey wrench femoral neck, Hypoplas... |
OMIM:617719 |
Multiple Epiphyseal Dysplasia, Beighton Type |
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Retinal thinning, Biconcave vertebral bodies, Arthralgia of the hip, Genu valgum, Knee pain, Cata... |
ORPHA:166011 |
Muscular Dystrophy, Congenital, 1B |
|
Gowers sign, Generalized muscle hypertrophy, Pectoralis amyotrophy, Diaphragmatic weakness, Conge... |
OMIM:604801 |
Pseudoachondroplasia |
|
Fragmented epiphyses, Irregular carpal bones, Fragmented, irregular epiphyses, Platyspondyly, Sma... |
OMIM:177170 |
Oculopharyngodistal Myopathy 4 |
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Weakness of facial musculature, Rimmed vacuoles, Increased variability in muscle fiber diameter, ... |
OMIM:619790 |
Osteoporosis-Pseudoglioma Syndrome |
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Abnormal femoral neck/head morphology, Exudative vitreoretinopathy, Corneal opacity, Loss of ambu... |
ORPHA:2788 |
Alagille Syndrome |
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Telangiectasia of the skin, Hepatomegaly, Abnormality of the ureter, Reduced number of intrahepat... |
ORPHA:52 |
Jawad Syndrome |
|
Postaxial polydactyly, Single interphalangeal crease of fifth finger, Absent fourth finger distal... |
OMIM:251255 |
Camptobrachydactyly |
|
Short toe, Syndactyly, Brachydactyly, Congenital finger flexion contractures, Hand polydactyly |
OMIM:114150 |
Cardiomyopathy, Dilated, 1I |
|
Dilated cardiomyopathy, Cardiomegaly |
OMIM:604765 |
Tarsal-Carpal Coalition Syndrome |
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Carpal synostosis, Humeroradial synostosis, Proximal symphalangism of hands, Distal symphalangism... |
OMIM:186570 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Cc |
|
Rimmed vacuoles, Increased variability in muscle fiber diameter, Lower limb amyotrophy, Lower lim... |
OMIM:616924 |
Myopathy, Tubular Aggregate, 1 |
|
Flexion contracture, Type 2 muscle fiber atrophy, Increased variability in muscle fiber diameter,... |
OMIM:160565 |
Talo-Patello-Scaphoid Osteolysis, Synovitis, And Short Fourth Metacarpals |
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Osteolysis of talus, Short 4th metacarpal, Osteolysis of patellae, Osteolysis of scaphoids, Synov... |
OMIM:609655 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2 |
|
EMG: myopathic abnormalities, Muscular dystrophy, Increased variability in muscle fiber diameter,... |
OMIM:253601 |
Harel-Yoon Syndrome |
|
Corneal opacity, Ataxia, Inability to walk, Micrognathia, Scoliosis, Peripheral axonal neuropathy... |
OMIM:617183 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23 |
|
Gowers sign, Internally nucleated skeletal muscle fibers, Proximal muscle weakness in lower limbs... |
OMIM:618138 |
Mesomelic Limb Shortening And Bowing |
|
Bowing of the legs, Mesomelic leg shortening, Retrognathia, Micrognathia, Camptodactyly of finger... |
OMIM:249710 |
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1 |
|
Pelvic girdle muscle atrophy, Progressive proximal muscle weakness, Pelvic girdle amyotrophy, Rim... |
OMIM:167320 |
Acro-Renal-Ocular Syndrome |
|
Radial club hand, Microcornea, Optic disc coloboma, Hypoplasia of the ulna, Sandal gap, Horseshoe... |
ORPHA:959 |
Ring Chromosome 21 Syndrome |
|
Fused thoracic vertebrae, Small hand, Syndactyly, Scoliosis, Narrow palm, Abnormal thorax morphol... |
ORPHA:1445 |
Brachyolmia Type 1, Toledo Type |
|
Precocious costochondral ossification, Irregular vertebral endplates, Kyphoscoliosis, Squared-off... |
OMIM:271630 |
Polydactyly, Postaxial, With Dental And Vertebral Anomalies |
|
Dens in dente, Pectus excavatum, Hemivertebrae, Pectus carinatum, Mandibular prognathia, Spinal c... |
OMIM:263540 |
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly |
|
Aplasia/Hypoplasia of the ulna, Hypoplasia of the radius, Femoral bowing, Congenital hip dislocat... |
OMIM:228930 |
22Q11.2 Deletion Syndrome |
|
Tricuspid atresia, Cholelithiasis, Short neck, Carious teeth, Ventricular septal defect, Optic at... |
ORPHA:567 |
Nemaline Myopathy 4 |
|
Facial diplegia, Nemaline bodies, Gowers sign, Flexion contracture, Type 1 muscle fiber predomina... |
OMIM:609285 |
Ghosal Hematodiaphyseal Dysplasia |
|
Abnormality of femur morphology, Craniofacial hyperostosis, Splenomegaly, Anemia, Abnormal form o... |
ORPHA:1802 |
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type |
|
Corner fracture of metaphysis, Short neck, Platyspondyly, Biconcave vertebral bodies, Upper limb ... |
ORPHA:93315 |
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset |
|
Flexion contracture, Rimmed vacuoles, Increased variability in muscle fiber diameter, Muscle fibe... |
OMIM:300718 |
Myopathy, Centronuclear, 6, With Fiber-Type Disproportion |
|
Distal muscle weakness, Calf muscle hypertrophy, Rimmed vacuoles, Proximal muscle weakness, Skele... |
OMIM:617760 |
Kbg Syndrome |
|
Delayed skeletal maturation, Thick eyebrow, Cutaneous syndactyly, Short neck, Abnormal hair patte... |
ORPHA:2332 |
Acropectorovertebral Dysplasia |
|
Short distal phalanx of finger, Camptodactyly of finger, Synostosis of carpal bones, Triphalangea... |
ORPHA:957 |
Palmoplantar Carcinoma, Multiple Self-Healing |
|
Finger joint hypermobility, Corneal neovascularization, Short neck, Limbal stem cell deficiency, ... |
OMIM:615225 |
Acrocapitofemoral Dysplasia |
|
Cone-shaped epiphyses of the phalanges of the hand, Pectus excavatum, Hypoplasia of the radius, C... |
OMIM:607778 |
Cerebrooculofacioskeletal Syndrome 3 |
|
Talipes equinovarus, Micrognathia, Edema, Rocker bottom foot, Low-set ears |
OMIM:616570 |
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Narrow chest, Abnormal clavicle morphology, Micrognathia, Short neck, Platyspondyly, Ventricular ... |
ORPHA:93267 |
Keratoconus Posticus Circumscriptus |
|
Clinodactyly of the 5th finger, Abnormal vertebral segmentation and fusion, Short neck, Brachydac... |
OMIM:244600 |
Jeune Syndrome |
|
Narrow chest, Abnormality of retinal pigmentation, Abnormal clavicle morphology, Abnormal sternum... |
ORPHA:474 |
Dysspondyloenchondromatosis |
|
Vertebral segmentation defect, Enlarged joints, Kyphoscoliosis, Joint dislocation, Generalized jo... |
ORPHA:85198 |
Autosomal Dominant Centronuclear Myopathy |
|
Proximal muscle weakness in lower limbs, Calf muscle hypertrophy, EMG: myopathic abnormalities, A... |
ORPHA:169189 |
Otopalatodigital Syndrome, Type I |
|
Short 3rd metacarpal, Broad hallux, Sandal gap, Delayed closure of the anterior fontanelle, Broad... |
OMIM:311300 |
Camurati-Engelmann Disease |
|
Abnormality of femur morphology, Ataxia, Hepatomegaly, Abnormality of the humerus, Delayed erupti... |
ORPHA:1328 |
Neurodevelopmental Disorder With Cerebellar Hypoplasia And Spasticity |
|
Optic atrophy, Overlapping toe, Inability to walk |
OMIM:618572 |
Mesomelic Dysplasia, Nievergelt Type |
|
Clinodactyly of the 5th finger, Abnormal morphology of ulna, Camptodactyly of finger, Micromelia,... |
ORPHA:2633 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 2 |
|
EMG: myopathic abnormalities, Facial palsy, Progressive external ophthalmoplegia, Ragged-red musc... |
OMIM:609283 |
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1 |
|
Gowers sign, Flexion contracture, Rimmed vacuoles, Muscular dystrophy, Pelvic girdle muscle weakn... |
OMIM:603511 |
Symphalangism, Distal, With Microdontia, Dental Pulp Stones, And Narrowed Zygomatic Arch |
|
Short distal phalanx of finger, Absent trapezoid bone, Cone-shaped epiphyses of the middle phalan... |
OMIM:606895 |
Polydactyly, Postaxial, Type A7 |
|
Postaxial polydactyly |
OMIM:617642 |
Adams-Oliver Syndrome 3 |
|
Short distal phalanx of finger, 2-3 toe syndactyly, Absent toe, Short palm, Short metatarsal, Sho... |
OMIM:614814 |
Kyphomelic Dysplasia |
|
Narrow chest, Joint stiffness, Undulate ribs, Micrognathia, Micromelia, Anterior rib cupping, Abn... |
ORPHA:1801 |
Spondylometaphyseal Dysplasia, Kozlowski Type |
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Abnormal humeral metaphysis morphology, Platyspondyly, Pectus carinatum, Difficulty walking, Prem... |
ORPHA:93314 |
Scheie Syndrome |
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Corneal opacity, Aortic valve stenosis, Retinal degeneration, Spondylolisthesis, Short neck, Genu... |
OMIM:607016 |
Otopalatodigital Syndrome Type 2 |
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Abnormal cardiac septum morphology, Ureteral obstruction, Cataract, Bowing of the long bones, Elb... |
ORPHA:90652 |
Congenital Multicore Myopathy With External Ophthalmoplegia |
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Facial diplegia, Hypertrophied muscle fibers, Abnormal skeletal muscle morphology, Sternocleidoma... |
ORPHA:98905 |
Diastrophic Dysplasia |
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Abnormal clavicle morphology, Micromelia, Symphalangism affecting the phalanges of the hand, Ulna... |
ORPHA:628 |
Spondylometaphyseal Dysplasia, Axial |
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Narrow chest, Coxa vara, Retinal degeneration, Rod-cone dystrophy, Narrow greater sciatic notch, ... |
OMIM:602271 |
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome |
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Short stature, Skeletal muscle autophagosome accumulation, Rimmed vacuoles, Progressive muscle we... |
OMIM:619518 |
Neurodevelopmental Disorder With Seizures And Gingival Overgrowth |
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Inappropriate crying, Camptodactyly of finger, Optic atrophy, Jaw swelling, Flexion contracture o... |
OMIM:619323 |
Gorlin Syndrome |
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Arachnodactyly, Hemivertebrae, Vertebral fusion, Palmar pits, Brachydactyly, Scoliosis, Carious t... |
ORPHA:377 |
Acromesomelic Dysplasia 2B |
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Short metatarsal, Brachydactyly, Short phalanx of finger, Deviation of finger, Rhizomelia, Deform... |
OMIM:228900 |
Scapuloperoneal Spinal Muscular Atrophy |
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Scapular muscle atrophy, Torticollis, Amyoplasia, Peroneal muscle weakness, Talipes equinovarus, ... |
OMIM:181405 |
Verheij Syndrome |
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Abnormal cardiac septum morphology, Hemivertebrae, Short neck, Short 5th finger, Scoliosis, Renal... |
OMIM:615583 |
Pelvic Hypoplasia With Lower-Limb Arthrogryposis |
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Hip contracture, Paraspinal muscle hypertrophy, Congenital foot contractures, Short stature, Narr... |
OMIM:602484 |
Heart Defects-Limb Shortening Syndrome |
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Narrow chest, Abnormal mitral valve morphology, Kyphosis, Atrial septal defect, Accelerated skele... |
ORPHA:1354 |
Acrorenal Syndrome |
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Abnormal morphology of ulna, Micrognathia, Abnormality of tibia morphology, Aplasia/Hypoplasia of... |
ORPHA:971 |
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
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Hepatomegaly, Craniosynostosis, Ventricular septal defect, Rocker bottom foot, Double outlet righ... |
OMIM:301056 |
Holt-Oram Syndrome |
|
Anomalous pulmonary venous return, Pectus excavatum, Abnormal clavicle morphology, Absent thumb, ... |
ORPHA:392 |
Poland Syndrome |
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Hemivertebrae, Cone-shaped epiphysis, Short neck, Abnormality of the humerus, Pectus carinatum, R... |
ORPHA:2911 |
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome |
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Aplasia/Hypoplasia of the ulna, Abnormality of femur morphology, Clinodactyly of the 5th finger, ... |
ORPHA:2141 |
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome |
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2-3 toe syndactyly, Hypospadias, Ectopia pupillae, Microcornea, 3-4 finger syndactyly, Rhizomelia... |
OMIM:615877 |
King-Denborough Syndrome |
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Muscle fiber atrophy, Short stature, Weakness of facial musculature, Minicore myopathy, Type 1 mu... |
OMIM:619542 |
Frontometaphyseal Dysplasia 1 |
|
Craniosynostosis, Increased density of long bone diaphyses, Delayed eruption of teeth, Genu valgu... |
OMIM:305620 |
Ectrodactyly-Polydactyly |
|
Postaxial hand polydactyly, Split hand, Split foot |
OMIM:225290 |
Myopathy, Areflexia, Respiratory Distress, And Dysphagia, Early-Onset |
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Muscle fiber necrosis, Diaphragmatic weakness, Poor head control, Talipes equinovarus, EMG: myopa... |
OMIM:614399 |
Miyoshi Muscular Dystrophy 1 |
|
Distal muscle weakness, Muscular dystrophy, Lower limb muscle weakness, Distal amyotrophy, Deposi... |
OMIM:254130 |
Mucolipidosis Iii Gamma |
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Kyphosis, Joint stiffness, Flat capital femoral epiphysis, Aortic valve stenosis, Flared iliac wi... |
OMIM:252605 |
Adult-Onset Nemaline Myopathy |
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Nemaline bodies, Respiratory insufficiency due to muscle weakness, Flexion contracture, EMG: myop... |
ORPHA:171442 |
Isolated Klippel-Feil Syndrome |
|
Sprengel anomaly, Cervical C2/C3 vertebral fusion, Abnormal vertebral segmentation and fusion, Sh... |
ORPHA:2345 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 7 |
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Hypoglycosylation of alpha-dystroglycan, Macroglossia, Calf muscle hypertrophy, Muscle weakness, ... |
OMIM:616052 |
Thrombocytopenia-Absent Radius Syndrome |
|
Absent thumb, Atrioventricular canal defect, Hypoplasia of the radius, Femoral bowing, Ventricula... |
OMIM:274000 |
Mucopolysaccharidosis, Type Ivb |
|
Pointed proximal second through fifth metacarpals, Hepatomegaly, Prominent sternum, Platyspondyly... |
OMIM:253010 |
Gordon Syndrome |
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Clinodactyly of the 5th finger, Short stature, Camptodactyly of finger, Decreased muscle mass, Fi... |
ORPHA:376 |
Feingold Syndrome Type 2 |
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Short middle phalanx of finger, Brachydactyly, Short thumb, Toe syndactyly |
ORPHA:391646 |
Myasthenic Syndrome, Congenital, 14 |
|
Gowers sign, Flexion contracture, Limb-girdle muscle weakness, Fatigable weakness, Ragged-red mus... |
OMIM:616228 |
Lamb-Shaffer Syndrome |
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Overlapping toe, Long hallux, Vertebral clefting, Anxiety, Scoliosis, Long fingers, Pectus carina... |
OMIM:616803 |
Brachydactyly-Elbow Wrist Dysplasia Syndrome |
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Joint stiffness, Clinodactyly of the 5th finger, Abnormal morphology of ulna, Abnormality of the ... |
ORPHA:1275 |
Juberg-Hayward Syndrome |
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Abnormality of toe, Limited elbow extension, Abnormality of the radial head, Aplasia/Hypoplasia o... |
OMIM:216100 |
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness |
|
Cone-shaped epiphyses of the phalanges of the hand, Platyspondyly, Distal ulnar epiphyseal stippl... |
OMIM:609616 |
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5 |
|
Gowers sign, Increased endomysial connective tissue, Macroglossia, Right ventricular hypertrophy,... |
ORPHA:353 |
Amish Nemaline Myopathy |
|
Hip contracture, EMG: myopathic abnormalities, Type 1 muscle fiber predominance, Progressive musc... |
ORPHA:98902 |
Nemaline Myopathy 5 |
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Hip contracture, Nemaline bodies, Z-band streaming, Type 1 muscle fiber predominance, Progressive... |
OMIM:605355 |
Autoinflammation With Arthritis And Dyskeratosis |
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Elevated circulating C-reactive protein concentration, Hepatomegaly, Splenomegaly, Corneal neovas... |
OMIM:617388 |
Eiken Syndrome |
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Epiphyseal dysplasia, Metaphyseal irregularity, Short toe, Delayed epiphyseal ossification, Abnor... |
ORPHA:79106 |
Spondylocarpotarsal Synostosis Syndrome |
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Short neck, Pectus carinatum, Cataract, Block vertebrae, Delayed skeletal maturation, Vertebral s... |
OMIM:272460 |
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome |
|
Spastic gait, Corneal opacity, Micrognathia, Optic nerve hypoplasia, Scoliosis, Peripheral axonal... |
ORPHA:496790 |
Angel-Shaped Phalangoepiphyseal Dysplasia |
|
Delayed ossification of carpal bones, Hyperextensibility of the finger joints, Hip osteoarthritis... |
OMIM:105835 |
Metaphyseal Dysplasia, Braun-Tinschert Type |
|
Upper limb metaphyseal widening, Osteopenia, Humerus varus, Thin bony cortex, Hypoplasia of the u... |
ORPHA:85188 |
Anterior Segment Dysgenesis 8 |
|
Microphakia, Ectopia pupillae, Uveal ectropion, Optic nerve dysplasia, Hypoplasia of the iris, Ca... |
OMIM:617319 |
Ectodermal Dysplasia, Ectrodactyly, And Macular Dystrophy Syndrome |
|
Split hand, Syndactyly, Joint contracture of the hand, Camptodactyly |
OMIM:225280 |
Fibrous Dysplasia Of Bone |
|
Abnormality of femur morphology, Abnormal clavicle morphology, Abnormality of the humerus, Thin b... |
ORPHA:249 |
Multiple Epiphyseal Dysplasia, Al-Gazali Type |
|
Enlarged joints, Delayed epiphyseal ossification, Pectus excavatum, Spindle-shaped finger, Cutane... |
ORPHA:166024 |
Liberfarb Syndrome |
|
Delayed epiphyseal ossification, Retinal degeneration, Retinal pigment epithelial mottling, Metap... |
OMIM:618889 |
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked |
|
Respiratory insufficiency due to muscle weakness, Short stature, Type 1 fibers relatively smaller... |
OMIM:300580 |
Isolated Osteopoikilosis |
|
Abnormality of femur morphology, Joint stiffness, Abnormal bone ossification, Sclerosis of foot b... |
ORPHA:166119 |
Bethlem Myopathy |
|
Multiple joint contractures, Scapular winging, Quadriceps muscle weakness, Achilles tendon contra... |
ORPHA:610 |
Multiple Pterygium Syndrome, Lethal Type |
|
Akinesia, Multiple pterygia, Joint dislocation, Hypoplastic heart, Thin ribs, Flexion contracture... |
OMIM:253290 |
Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures |
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Increased endomysial connective tissue, Flexion contracture, Muscular dystrophy, Muscle weakness,... |
OMIM:617072 |
Hypogonadotropic Hypogonadism 19 With Or Without Anosmia |
|
Osteopenia, Osteoporosis |
OMIM:615269 |
Gm1 Gangliosidosis |
|
Ataxia, Platyspondyly, Ventricular septal defect, Optic atrophy, Abnormal epiphysis morphology, U... |
ORPHA:354 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 3 |
|
Gowers sign, Increased endomysial connective tissue, Skeletal muscle hypertrophy, Calf muscle hyp... |
OMIM:613157 |
Mucopolysaccharidosis, Type Vi |
|
Hepatomegaly, Prominent sternum, Delayed eruption of teeth, Pectus carinatum, Carious teeth, Genu... |
OMIM:253200 |
Charcot-Marie-Tooth Disease, Axonal, Type 2E |
|
Nemaline bodies, Ulnar claw, Flexion contracture, Distal muscle weakness, Foot dorsiflexor weakne... |
OMIM:607684 |
Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Coxa vara, Tibial bowing, Metaphyseal cupping, Radial bowing, Flared iliac wing, Femoral bowing, ... |
OMIM:602111 |
Dyggve-Melchior-Clausen Disease |
|
Cone-shaped epiphyses of the phalanges of the hand, Prominent sternum, Femoral bowing, Barrel-sha... |
OMIM:223800 |
Fibular Aplasia-Complex Brachydactyly Syndrome |
|
Abnormal morphology of ulna, Abnormal hip bone morphology, Aplasia/Hypoplasia of the fibula, Brac... |
ORPHA:2639 |
Oculopharyngeal Muscular Dystrophy |
|
Abnormal muscle fiber morphology, Rimmed vacuoles, Ragged-red muscle fibers, Myopathy, Ophthalmop... |
ORPHA:270 |
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy |
|
Femoral bowing, Platyspondyly, Rhizomelia, Severe platyspondyly, Ovoid vertebral bodies, Metaphys... |
OMIM:608940 |
Ventriculomegaly And Arthrogryposis |
|
Micrognathia, Talipes equinovarus, Hand clenching, Ulnar deviation of the wrist |
OMIM:619501 |
Diaphanospondylodysostosis |
|
Enlarged thorax, Abnormal vertebral segmentation and fusion, Short neck, Multiple renal cysts, Ab... |
ORPHA:66637 |
Myasthenic Syndrome, Congenital, 1A, Slow-Channel |
|
Intrinsic hand muscle atrophy, Diaphragmatic weakness, Type 2 muscle fiber atrophy, Hand muscle a... |
OMIM:601462 |
Mucopolysaccharidosis, Type Vii |
|
Hepatomegaly, Coarse hair, Short neck, Heparan sulfate excretion in urine, Platyspondyly, Pectus ... |
OMIM:253220 |
Acrodysostosis |
|
Spinal canal stenosis, Short toe, Abnormal morphology of ulna, Accelerated skeletal maturation, H... |
ORPHA:950 |
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome |
|
Short distal phalanx of finger, Short distal phalanx of the thumb, Short toe, Short stature, 3-4 ... |
ORPHA:370010 |
Spondylodysplastic Ehlers-Danlos Syndrome |
|
Multiple joint contractures, Slender long bones with narrow diaphyses, Osteopenia, Megalocornea, ... |
ORPHA:536471 |
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type |
|
Coxa vara, Severe short stature, Short long bone, Enlarged metaphyses, Irregular femoral epiphysi... |
OMIM:618728 |
Mucopolysaccharidosis Type 1 |
|
Optic atrophy, Abnormal epiphysis morphology, Mucopolysacchariduria, Abnormal metaphysis morpholo... |
ORPHA:579 |
Melnick-Needles Syndrome |
|
Abnormal cardiac septum morphology, Cone-shaped epiphyses of the phalanges of the hand, Abnormali... |
ORPHA:2484 |
Carpenter Syndrome 1 |
|
Aplasia/Hypoplasia of the middle phalanges of the toes, Short neck, Microcornea, Ventricular sept... |
OMIM:201000 |
Congenital Rubella Syndrome |
|
Corneal opacity, Abnormality of retinal pigmentation, Atrial septal defect, Hepatomegaly, Splenom... |
ORPHA:290 |
Holt-Oram Syndrome |
|
Aplasia of the ulna, Short clavicles, Absent thumb, Hypoplasia of the radius, Partial duplication... |
OMIM:142900 |
Tibial Aplasia-Ectrodactyly Syndrome |
|
Aplasia/Hypoplasia of the ulna, Abnormality of femur morphology, Ectrodactyly, Aplasia/Hypoplasia... |
ORPHA:3329 |
2Q31.1 Microdeletion Syndrome |
|
Short neck, Optic disc coloboma, Tapered finger, Ventricular septal defect, Abnormality of fibula... |
ORPHA:251014 |
Multiple Pterygium Syndrome, X-Linked |
|
Multiple pterygia, Joint dislocation, Hypoplastic heart, Thin ribs, Flexion contracture, Microgna... |
OMIM:312150 |
Craniodiaphyseal Dysplasia |
|
Optic atrophy, Diaphyseal thickening, Craniofacial hyperostosis, Abnormal rib morphology |
ORPHA:1513 |
Glycogen Storage Disease Ixd |
|
Glycogen accumulation in muscle fiber lysosomes, Muscle fiber necrosis, Increased muscle glycogen... |
OMIM:300559 |
Seckel Syndrome 7 |
|
Microtia, Primary amenorrhea, Clinodactyly, Madelung deformity, Hip dysplasia, Abnormal carpal mo... |
OMIM:614851 |
Benign Samaritan Congenital Myopathy |
|
Centrally nucleated skeletal muscle fibers, Internally nucleated skeletal muscle fibers |
ORPHA:324581 |
Arthrogryposis, Distal, Type 2E |
|
Talipes equinovarus, Joint contracture of the hand, Micrognathia, Absent antihelix, Trismus |
OMIM:121070 |
Congenital Myasthenic Syndromes With Glycosylation Defect |
|
Gowers sign, Poor head control, Flexion contracture, Distal muscle weakness, Generalized weakness... |
ORPHA:353327 |
Pelvis-Shoulder Dysplasia |
|
Facial hirsutism, Microcornea, Absent proximal finger flexion creases, Talipes equinovarus, Micro... |
ORPHA:2839 |
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations |
|
Sparse eyebrow, Tricuspid stenosis, Barrel-shaped chest, Short neck, Delayed eruption of teeth, H... |
OMIM:143095 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Happy demeanor, Pectus excavatum, Inability to walk, Delayed eruption of teeth, Pectus carinatum,... |
ORPHA:261552 |
Wt Limb-Blood Syndrome |
|
Hypoplastic anemia, Clinodactyly of the 5th finger, Absent thumb, Retrognathia, Micrognathia, Uln... |
OMIM:194350 |
Acromesomelic Dysplasia 2A |
|
Short femur, Hypoplasia of the radius, Short tibia, Short humerus, Aplasia/Hypoplasia of the pate... |
OMIM:200700 |
Periventricular Nodular Heterotopia 7 |
|
Optic atrophy, Micrognathia, 2-3 toe syndactyly, Flexion contracture |
OMIM:617201 |
Ring Chromosome 4 Syndrome |
|
Split hand, Abnormal morphology of ulna, Aplasia/Hypoplasia of the radius, Abnormality of the upp... |
ORPHA:1447 |
Frontometaphyseal Dysplasia |
|
Limitation of movement at ankles, Craniosynostosis, Ureteral obstruction, Limitation of knee mobi... |
ORPHA:1826 |
Hurler Syndrome |
|
Hepatomegaly, Retinal degeneration, Calvarial hyperostosis, Short neck, Hypoplasia of the femoral... |
OMIM:607014 |
Robinow Syndrome, Autosomal Recessive 1 |
|
Pectus excavatum, Hypoplastic sacrum, Hypoplasia of the radius, Hemivertebrae, Duplication of the... |
OMIM:268310 |
Humero-Radio-Ulnar Synostosis |
|
Elbow ankylosis, Abnormality of the ureter, Radioulnar synostosis, Abnormal thumb morphology, Abn... |
ORPHA:3266 |
Osteoporosis, Juvenile |
|
Osteoporosis |
OMIM:259750 |
Hypotrichosis-Intellectual Disability, Lopes Type |
|
1-5 finger complete cutaneous syndactyly |
ORPHA:2266 |
49,Xyyyy Syndrome |
|
Azoospermia, Micrognathia, Finger clinodactyly, Low-set, posteriorly rotated ears, Short 5th fing... |
ORPHA:99330 |
Mucopolysaccharidosis-Plus Syndrome |
|
Pectus excavatum, Hepatomegaly, Inability to walk, Coarse hair, Short neck, Pectus carinatum, Enl... |
OMIM:617303 |
Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome |
|
Abnormal morphology of ulna, Abnormal hair quantity, Short neck, Mitral valve prolapse, Abnormal ... |
ORPHA:2233 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Hypertrichosis, Broad phalanx, Exocrine pancreatic insufficiency, Pectus excavatum, Atrioventricu... |
ORPHA:508498 |
Ophthalmomandibulomelic Dysplasia |
|
Radial bowing, Temporomandibular joint ankylosis, Lateral humeral condyle aplasia, Coxa valga, Me... |
OMIM:164900 |
Combined Oxidative Phosphorylation Deficiency 6 |
|
Ragged-red muscle fibers, Skeletal muscle atrophy, Muscle weakness, Respiratory insufficiency due... |
OMIM:300816 |
Sclerosteosis |
|