Arthrogryposis, Distal, Type 10 |
|
Camptodactyly of finger, Wrist flexion contracture, Plantar flexion contracture, Distal arthrogry... |
OMIM:187370 |
Arthrogryposis, Congenital, Lower Limb, X-Linked |
|
Knee flexion contracture, Hip contracture, Gait disturbance, Ankle flexion contracture, Arthrogry... |
OMIM:300158 |
Osteochondritis Dissecans |
|
Limited elbow flexion, Abnormality of the knee, Quadriceps muscle atrophy, Decreased hip abductio... |
ORPHA:2764 |
Panner Disease |
|
Large elbow, Elbow pain, Limited elbow movement, Abnormality of the humerus, Abnormality of upper... |
ORPHA:97336 |
Osgood-Schlatter Disease |
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Knee pain, Shuffling gait, Abnormal patella morphology, Limited knee extension, Large knee, Diffi... |
ORPHA:97335 |
Intermittent Hydrarthrosis |
|
Abnormality of the knee, Knee joint hypermobility, Chondrocalcinosis, Joint swelling |
ORPHA:329967 |
Sinding-Larsen-Johansson Disease |
|
Knee pain, Joint swelling, Limitation of knee mobility, Painless fractures due to injury, Osteoch... |
ORPHA:97337 |
Familial Calcium Pyrophosphate Deposition |
|
Joint dislocation, Arthritis, Calcification of cartilage, Limitation of joint mobility, Joint swe... |
ORPHA:1416 |
Progressive Pseudorheumatoid Dysplasia |
|
Camptodactyly of finger, Genu varum, Coxa vara, Joint contracture of the hand, Arthropathy, Enlar... |
OMIM:208230 |
Arthrogryposis, Distal, Type 1B |
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Distal arthrogryposis, Foot joint contracture, Joint contracture of the hand, Talipes equinovarus... |
OMIM:614335 |
Genochondromatosis Type 1 |
|
Multiple enchondromatosis, Abnormality of the knee |
ORPHA:85197 |
Rheumatoid Factor-Positive Polyarticular Juvenile Idiopathic Arthritis |
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Symmetric polyarthritis, Synovitis, Limitation of joint mobility, Abnormality of limb bone morpho... |
ORPHA:85435 |
Camptodactyly-Tall Stature-Scoliosis-Hearing Loss Syndrome |
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Camptodactyly of finger, Abnormality of lower limb joint |
ORPHA:85164 |
Tenosynovial Giant Cell Tumor |
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Abnormality of the knee, Synovial hypertrophy, Abnormality of the elbow, Lymphedema, Abnormal hip... |
ORPHA:66627 |
Popliteal Cyst |
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Abnormality of the knee, Joint swelling |
OMIM:175750 |
Mosaic Trisomy 15 |
|
Camptodactyly of finger, Deviation of finger, Abnormality of the hand |
ORPHA:1706 |
Cranio-Osteoarthropathy |
|
Abnormality of the knee, Arthritis, Clubbing of toes, Abnormality of tibia morphology, Joint swel... |
ORPHA:1525 |
Progressive Pseudorheumatoid Arthropathy Of Childhood |
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Wrist swelling, Flat capital femoral epiphysis, Camptodactyly, Polyarticular arthropathy, General... |
ORPHA:1159 |
Camptodactyly 1 |
|
Camptodactyly of finger, Knee dislocation, Joint subluxation |
OMIM:114200 |
Osteochondrosis Of The Tarsal Bone |
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Antalgic gait, Pedal edema, Avascular necrosis, Tarsal sclerosis, Juvenile aseptic necrosis, Foot... |
ORPHA:563991 |
Legg-Calvé-Perthes Disease |
|
Cartilage destruction, Joint dislocation, Avascular necrosis, Skeletal muscle atrophy, Delayed sk... |
ORPHA:2380 |
Syndactyly Type 2 |
|
Camptodactyly of finger, 2-3 toe syndactyly, Symphalangism affecting the phalanges of the hand, S... |
ORPHA:93403 |
Arthrogryposis, Distal, Type 2B2 |
|
Short toe, Tapered finger, Ulnar deviation of the wrist, Clinodactyly, Camptodactyly, Hip disloca... |
OMIM:618435 |
Osteosarcoma |
|
Abnormal femoral metaphysis morphology, Osteolysis, Abnormal tibial metaphysis morphology, Joint ... |
ORPHA:668 |
Digitotalar Dysmorphism |
|
Camptodactyly of finger, Ulnar deviation of finger, Rocker bottom foot |
OMIM:126050 |
Hemochromatosis Type 4 |
|
Joint dislocation, Joint swelling, Limitation of joint mobility |
ORPHA:139491 |
Corpus Callosum, Agenesis Of |
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Camptodactyly, Joint contracture of the hand |
OMIM:217990 |
Synpolydactyly 1 |
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Finger syndactyly, Short middle phalanx of the 5th finger, Preaxial foot polydactyly, Clinodactyl... |
OMIM:186000 |
Arthrogryposis, Distal, Type 11 |
|
Talipes equinovarus, Camptodactyly, Metatarsus adductus, Absent proximal finger flexion creases, ... |
OMIM:620019 |
Farber Lipogranulomatosis |
|
Osteolytic defects of the phalanges of the hand, Osteolysis involving bones of the feet, Hyperext... |
OMIM:228000 |
Syndactyly Type 5 |
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Camptodactyly of finger, 2-3 toe syndactyly, Ulnar deviation of finger, Metatarsal synostosis, Cl... |
ORPHA:93406 |
Rheumatoid Arthritis |
|
Rheumatoid arthritis, Swan neck-like deformities of the fingers, Digital flexor tenosynovitis, Po... |
OMIM:180300 |
Syndactyly Type 3 |
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Camptodactyly of finger, Short toe, Finger syndactyly |
ORPHA:93404 |
Wahab Syndrome |
|
Short foot, Short metacarpal, Clinodactyly, Camptodactyly, Ankylosis, Adducted thumb, Syndactyly,... |
OMIM:615170 |
Metachondromatosis |
|
Multiple enchondromatosis, Abnormal joint morphology |
OMIM:156250 |
Autosomal Recessive Spastic Paraplegia Type 45 |
|
Knee flexion contracture, Spastic gait, Ankle flexion contracture, Flexion contracture of toe |
ORPHA:320396 |
Multiple Epiphyseal Dysplasia Type 1 |
|
Genu varum, Genu valgum, Knee pain, Avascular necrosis of the capital femoral epiphysis, Finger j... |
ORPHA:93308 |
Juvenile Idiopathic Arthritis |
|
Joint dislocation, Cartilage destruction, Pericardial effusion, Arthritis, Joint swelling, Abnorm... |
ORPHA:92 |
Spondyloepiphyseal Dysplasia Tarda |
|
Hip osteoarthritis, Flattened femoral head, Increased bone mineral density, Stiff knee, Limb pain... |
ORPHA:93284 |
Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome |
|
Wrist flexion contracture, Congenital finger flexion contractures, Synovial hypertrophy, Coxa var... |
OMIM:208250 |
Camptosynpolydactyly, Complex |
|
Syndactyly, Polydactyly, Camptodactyly, Cutaneous syndactyly |
OMIM:607539 |
Distal Arthrogryposis Type 1 |
|
Camptodactyly of finger, Ulnar deviation of finger, Joint stiffness, Adducted thumb, Overlapping ... |
ORPHA:1146 |
Majeed Syndrome |
|
Flexion contracture, Osteomyelitis, Delayed skeletal maturation, Joint swelling, Bone pain |
OMIM:609628 |
Ectodermal Dysplasia, Ectrodactyly, And Macular Dystrophy Syndrome |
|
Joint contracture of the hand, 2-3 finger syndactyly, 2-4 finger syndactyly, Camptodactyly, 1-4 f... |
OMIM:225280 |
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis |
|
Oligoarthritis, Flexion contracture, Synovial hypertrophy, Hip osteoarthritis, Enthesitis, Arthri... |
ORPHA:85408 |
Syndactyly Type 4 |
|
Camptodactyly of finger, Triphalangeal thumb, Short tibia, Foot polydactyly, Toe syndactyly, Hand... |
ORPHA:93405 |
Familial Afibrinogenemia |
|
Joint swelling |
ORPHA:98880 |
Moderate Hemophilia A |
|
Cartilage destruction, Hip contracture, Arthropathy, Synovitis, Limitation of joint mobility, Joi... |
ORPHA:169805 |
Syndactyly, Type V |
|
Camptodactyly of finger, Joint contracture of the hand, Cutaneous finger syndactyly, Carpal synos... |
OMIM:186300 |
Coloboma Of Macula-Brachydactyly Type B Syndrome |
|
Camptodactyly of finger, Short distal phalanx of finger, Broad thumb, Type B brachydactyly |
ORPHA:1471 |
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies |
|
Overlapping toe, Camptodactyly, Short thumb, Clinodactyly of the 5th finger |
OMIM:618453 |
Calpain-3-Related Limb-Girdle Muscular Dystrophy R1 |
|
Wrist flexion contracture, Congenital finger flexion contractures, Flexion contracture, Tip-toe g... |
ORPHA:267 |
Masa Syndrome |
|
Camptodactyly of finger, Hand clenching, Clinodactyly of the 5th finger, Gait disturbance |
ORPHA:2466 |
Hemophilia A |
|
Joint swelling, Intramuscular hematoma, Abnormality of the elbow, Joint hemorrhage |
ORPHA:98878 |
Distal Symphalangism |
|
Camptodactyly of finger, Symphalangism affecting the phalanges of the hand, Synostosis of carpal ... |
ORPHA:3248 |
Brachydactyly, Type B1 |
|
Delayed cranial suture closure, Vertebral fusion, Wide anterior fontanel, Joint contracture of th... |
OMIM:113000 |
Ectrodactyly-Polydactyly Syndrome |
|
Camptodactyly of finger, Symphalangism affecting the phalanges of the hand, Finger syndactyly, Ab... |
ORPHA:1892 |
Arthrogryposis, Distal, Type 1A |
|
Knee flexion contracture, Hand clenching, Hip contracture, Ulnar deviation of the hand or of fing... |
OMIM:108120 |
Epidermolytic Palmoplantar Keratoderma |
|
Camptodactyly, Palmoplantar hyperkeratosis, Clubbing, Diffuse palmoplantar hyperkeratosis, Palmar... |
ORPHA:2199 |
Brachydactyly-Syndactyly Syndrome |
|
Short phalanx of finger, Finger syndactyly, Short digit, Camptodactyly, Oligodactyly, Syndactyly,... |
OMIM:610713 |
Extensor Tendons Of Finger Anomalies |
|
Camptodactyly of finger, Multiple lipomas, Limitation of joint mobility, Skeletal muscle atrophy,... |
ORPHA:3294 |
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases |
|
Joint contracture of the hand, Dermatoglyphic ridges abnormal, Camptodactyly, Small hypothenar em... |
OMIM:211960 |
Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect |
|
Knee flexion contracture, Distal arthrogryposis, Flexion contracture, Hip contracture, Elbow flex... |
OMIM:617468 |
Systemic-Onset Juvenile Idiopathic Arthritis |
|
Pleural effusion, Joint swelling, Juvenile rheumatoid arthritis |
ORPHA:85414 |
Proximal Symphalangism |
|
Camptodactyly of finger, Metacarpophalangeal synostosis, Finger syndactyly, Elbow ankylosis, Syno... |
ORPHA:3250 |
Severe Hemophilia A |
|
Synovitis, Limitation of joint mobility, Progressive joint destruction, Joint swelling, Limb join... |
ORPHA:169802 |
Huntington Disease-Like 2 |
|
Inertia, Weight loss, Apathy, Dementia, Depression, Anxiety, Subcortical dementia, Irritability, ... |
OMIM:606438 |
Stiff Skin Syndrome |
|
Knee flexion contracture, Elbow flexion contracture, Camptodactyly, Limited shoulder movement, Li... |
OMIM:184900 |
Wilson Disease |
|
Arthritis, Abnormality of the hand, Joint swelling, Difficulty walking, Proximal muscle weakness ... |
ORPHA:905 |
Neurodevelopmental Disorder With Seizures And Gingival Overgrowth |
|
Camptodactyly of finger, Flexion contracture of toe, Gait ataxia |
OMIM:619323 |
Congenital Myopathy 15 |
|
Polyhydramnios, Increased variability in muscle fiber diameter, Fatty replacement of skeletal mus... |
OMIM:620161 |
Alkaptonuria |
|
Joint dislocation, Thickened Achilles tendon, Cartilage destruction, Arthritis, Calcification of ... |
ORPHA:56 |
Chromosome 20Q11-Q12 Deletion Syndrome |
|
Camptodactyly, Adducted thumb, Tarsal osteovalgus, Brachydactyly, Finger clinodactyly |
OMIM:614257 |
Arthrogryposis, Impaired Intellectual Development, And Seizures |
|
Camptodactyly of finger, Hip dislocation, Acetabular dysplasia, Knee dislocation, Arthrogryposis ... |
OMIM:615553 |
Arthrogryposis, Distal, Type 1C |
|
Camptodactyly of finger, Wrist flexion contracture, Knee flexion contracture, Hip contracture, El... |
OMIM:619110 |
Eng-Strom Syndrome |
|
Camptodactyly of finger, Arthritis, Brachydactyly |
ORPHA:1937 |
Dysplasia Epiphysealis Hemimelica With Chondromas And Osteochondromas |
|
Joint swelling |
OMIM:127820 |
Hyperchlorhidrosis, Isolated |
|
Failure to thrive, Hyperkalemia, Hyponatremia |
OMIM:143860 |
Adult-Onset Still Disease |
|
Arthritis, Cartilage destruction, Joint swelling |
ORPHA:829 |
Camptodactyly-Taurinuria Syndrome |
|
Camptodactyly of finger, Camptodactyly of toe |
ORPHA:1325 |
Pseudoleprechaunism Syndrome, Patterson Type |
|
Genu valgum, Palmoplantar cutis laxa, Metaphyseal sclerosis, Flat acetabular roof, Abnormal limb ... |
ORPHA:2976 |
Spastic Paraplegia 20, Autosomal Recessive |
|
Ankle clonus, Flexion contracture, Lower limb muscle weakness, Spastic gait, Clinodactyly, Campto... |
OMIM:275900 |
Leri Pleonosteosis |
|
Camptodactyly of finger, Abnormal finger morphology, Abnormal metacarpal morphology, Gait disturb... |
ORPHA:2900 |
Lyme Disease |
|
Arthritis, Joint swelling |
ORPHA:91546 |
Arthrogryposis, Distal, Type 2B3 |
|
Hallux valgus, Camptodactyly, Adducted thumb, Overlapping fingers, Ulnar deviation of the hand, T... |
OMIM:618436 |
Ulnar Hemimelia |
|
Sclerotic forearm bones, Humeroradial synostosis, Aplasia of metacarpal bones, Abnormal 3rd metac... |
ORPHA:93320 |
Pachydermoperiostosis |
|
Genu varum, Avascular necrosis, Osteomyelitis, Small hand, Arthritis, Clubbing of toes, Limitatio... |
ORPHA:2796 |
Blau Syndrome |
|
Camptodactyly of finger, Arthritis, Synovitis, Tendonitis, Cystoid macular edema, Joint swelling,... |
OMIM:186580 |
20Q11.2 Microdeletion Syndrome |
|
Adducted thumb, Finger clinodactyly, Camptodactyly, Brachydactyly |
ORPHA:444051 |
Sillence Syndrome |
|
Bulbous tips of toes, Large iliac wing, Large tarsal bones, Flat acetabular roof, Camptodactyly, ... |
ORPHA:3168 |
Hyperekplexia 4 |
|
Distal arthrogryposis, Flexion contracture, Talipes equinovarus, Camptodactyly, Adducted thumb, I... |
OMIM:618011 |
Aphalangy-Syndactyly-Microcephaly Syndrome |
|
Camptodactyly of finger, Symphalangism affecting the phalanges of the hand, Toe syndactyly, Abnor... |
ORPHA:1113 |
Mesomelic Dysplasia, Kantaputra Type |
|
Camptodactyly of finger, Dumbbell-shaped humerus, Abnormality of the humerus, Synostosis of carpa... |
ORPHA:1836 |
Symptomatic Form Of Hemochromatosis Type 1 |
|
Decreased muscle mass, Arthropathy, Stiff interphalangeal joints, Arthritis, Joint swelling, Join... |
ORPHA:465508 |
Farber Disease |
|
Short toe, Abnormality of the knee, Hydrops fetalis, Flexion contracture, Abnormality of the elbo... |
ORPHA:333 |
Multiple Epiphyseal Dysplasia Type 5 |
|
Genu varum, Genu valgum, Knee pain, Avascular necrosis of the capital femoral epiphysis, Decrease... |
ORPHA:93311 |
Aase-Smith Syndrome |
|
Camptodactyly of finger, Multiple joint contractures, Joint stiffness, Aplasia/Hypoplasia of the ... |
ORPHA:916 |
Whistling Face Syndrome, Recessive Form |
|
Knee flexion contracture, Elbow flexion contracture, Camptodactyly, Ulnar deviation of finger, Sh... |
OMIM:277720 |
Midline Malformations, Multiple, With Limb Abnormalities And Hypopituitarism |
|
Camptodactyly, Joint contracture of the hand, Overlapping fingers |
OMIM:601016 |
Martsolf Syndrome 2 |
|
Camptodactyly of finger, Camptodactyly, Overlapping toe |
OMIM:619420 |
Fetal Akinesia Deformation Sequence 4 |
|
Polyhydramnios, Camptodactyly, Skeletal muscle atrophy, Arthrogryposis multiplex congenita, Rocke... |
OMIM:618393 |
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome |
|
Camptodactyly of finger, Abnormal metacarpal morphology, Elbow dislocation, Abnormal metaphysis m... |
ORPHA:2631 |
Chromosome 17P13.3, Telomeric, Duplication Syndrome |
|
Short tibia, Short toe, Short phalanx of finger, Absent toe, Short metacarpal, Finger symphalangi... |
OMIM:612576 |
Emery-Nelson Syndrome |
|
Camptodactyly of finger, Interphalangeal thumb joint contracture, Abnormal thumb morphology, Brac... |
ORPHA:1927 |
Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments |
|
Inappropriate behavior, Frontotemporal dementia, Inertia, Falls, Shuffling gait, Motor deteriorat... |
ORPHA:412066 |
Limb-Mammary Syndrome |
|
Hallux valgus, Joint contracture of the hand, Camptodactyly, Syndactyly, Split foot, Split hand |
OMIM:603543 |
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis |
|
Osteomyelitis, Fused cervical vertebrae, Osteolysis, Osteopenia, Joint swelling |
OMIM:612852 |
Autosomal Recessive Spastic Paraplegia Type 18 |
|
Knee flexion contracture, Ankle clonus, Hip contracture, Flexion contracture, Inability to walk, ... |
ORPHA:209951 |
Spondylocamptodactyly Syndrome |
|
Camptodactyly of finger |
ORPHA:3180 |
Keipert Syndrome |
|
Clinodactyly, Camptodactyly, Joint laxity, Broad hallux, Broad thumb, Brachydactyly, Broad distal... |
OMIM:301026 |
Perching Syndrome |
|
Joint contracture, Camptodactyly |
OMIM:617055 |
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy |
|
Wrist swelling, Polyhydramnios, Camptodactyly of finger, Slender long bone, Abnormality of the wr... |
ORPHA:2774 |
Arthrogryposis, Distal, Type 4 |
|
Distal arthrogryposis, Tibial deviation of toes, 2-5 finger cutaneous syndactyly, Fibular deviati... |
OMIM:609128 |
Erdheim-Chester Disease |
|
Avascular necrosis, Osteomyelitis, Increased bone mineral density, Ataxia, Pleural effusion, Oste... |
ORPHA:35687 |
Myasthenic Syndrome, Congenital, 24, Presynaptic |
|
Knee flexion contracture, Distal arthrogryposis, Camptodactyly, Talipes equinovarus |
OMIM:618198 |
Contractural Arachnodactyly, Congenital |
|
Knee flexion contracture, Wrist flexion contracture, Congenital finger flexion contractures, Arac... |
OMIM:121050 |
Spondyloenchondrodysplasia With Immune Dysregulation |
|
Metaphyseal irregularity, Metaphyseal sclerosis, Rheumatoid arthritis, Juvenile rheumatoid arthri... |
OMIM:607944 |
Camptodactyly Syndrome, Guadalajara Type 2 |
|
Camptodactyly of finger, Short 5th toe, Patellar hypoplasia, Short 3rd toe, Hip dislocation, Shor... |
ORPHA:1326 |
Ophthalmomandibulomelic Dysplasia |
|
Camptodactyly of finger, Symphalangism affecting the phalanges of the hand, Radioulnar dislocatio... |
ORPHA:2741 |
Reactive Arthritis |
|
Cartilage destruction, Osteomyelitis, Enthesitis, Arthritis, Joint swelling, Joint stiffness |
ORPHA:29207 |
Mixed Connective Tissue Disease |
|
Avascular necrosis, Arthritis, Myositis, Osteolysis, Joint swelling, Xerostomia, Joint stiffness |
ORPHA:809 |
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome |
|
Camptodactyly of finger, Ulnar deviation of finger, Gait disturbance, Abnormal pelvic girdle bone... |
ORPHA:2928 |
Arthrogryposis, Distal, Type 2A |
|
Wrist flexion contracture, Polyhydramnios, Ulnar deviation of the hand or of fingers of the hand,... |
OMIM:193700 |
Partington Syndrome |
|
Flexion contracture, Camptodactyly |
OMIM:309510 |
Bethlem Myopathy |
|
Camptodactyly of finger, Wrist flexion contracture, Limb-girdle muscle weakness, Flexion contract... |
ORPHA:610 |
Autoinflammation, Panniculitis, And Dermatosis Syndrome |
|
Lipodystrophy, Joint swelling, Panniculitis |
OMIM:617099 |
Developmental Delay With Variable Neurologic And Brain Abnormalities |
|
Knee flexion contracture, Cubitus valgus, Camptodactyly, Down-sloping shoulders |
OMIM:619694 |
Moebius Syndrome |
|
Short phalanx of finger, Hand clenching, Aplasia/Hypoplasia involving the metacarpal bones, Dysdi... |
OMIM:157900 |
Joubert Syndrome 18 |
|
Talipes equinovarus, Camptodactyly, Joint laxity, Trident pelvis, Bowing of the long bones, Posta... |
OMIM:614815 |
Dyggve-Melchior-Clausen Disease |
|
Camptodactyly, Flat glenoid fossa, Narrow greater sciatic notch, Talipes equinovarus, Hypoplastic... |
OMIM:223800 |
Monosomy 22 |
|
Contractures of the large joints, Finger syndactyly, Clinodactyly of the 5th finger, Clubbing, Si... |
ORPHA:96123 |
Mesomelic Dysplasia, Nievergelt Type |
|
Camptodactyly of finger, Genu varum, Genu valgum, Finger syndactyly, Abnormality of the wrist, Ra... |
ORPHA:2633 |
Congenital Myopathy 12 |
|
Polyhydramnios, Joint contracture of the hand, Akinesia, Camptodactyly, Overlapping fingers, Arac... |
OMIM:612540 |
Frontonasal Dysplasia 1 |
|
Joint contracture of the hand, Pectoral muscle hypoplasia/aplasia, Clinodactyly, Camptodactyly, R... |
OMIM:136760 |
Greig Cephalopolysyndactyly Syndrome |
|
Delayed cranial suture closure, Preaxial hand polydactyly, Joint contracture of the hand, Preaxia... |
OMIM:175700 |
Multiple Epiphyseal Dysplasia Type 4 |
|
Flexion contracture, Elbow flexion contracture, Stiff ankle, Metatarsal synostosis, Premature ost... |
ORPHA:93307 |
Larsen-Like Syndrome, Lethal Type |
|
Abnormal cartilage matrix, Joint dislocation, Multiple joint dislocation |
OMIM:245650 |
Posterior Column Ataxia With Retinitis Pigmentosa |
|
Joint contracture of the hand, Camptodactyly, Ataxia, Flexion contracture of finger, Skeletal mus... |
OMIM:609033 |
Ehlers-Danlos Syndrome, Musculocontractural Type, 2 |
|
Atrophic scars, Camptodactyly, Joint laxity, Adducted thumb, Inguinal hernia, Facial hypotonia, A... |
OMIM:615539 |
Catifa Syndrome |
|
Inguinal hernia, Camptodactyly, Gait disturbance |
OMIM:618761 |
Acropectorovertebral Dysplasia |
|
Camptodactyly of finger, Triphalangeal thumb, Finger syndactyly, Synostosis of carpal bones, Broa... |
ORPHA:957 |
Pseudodiastrophic Dysplasia |
|
Camptodactyly, Phalangeal dislocation, Talipes equinovarus, Elbow dislocation |
OMIM:264180 |
Cerebrooculofacioskeletal Syndrome 1 |
|
Knee flexion contracture, Flexion contracture, Coxa valga, Second metatarsal posteriorly placed, ... |
OMIM:214150 |
Camptodactyly-Arthropathy-Coxa-Vara-Pericarditis Syndrome |
|
Wrist swelling, Camptodactyly of finger, Coxa vara, Short femoral neck, Flattened femoral head, C... |
ORPHA:2848 |
Arthrogryposis, Distal, Type 5D |
|
Decreased muscle mass, Limited elbow movement, Elbow flexion contracture, Camptodactyly, Limited ... |
OMIM:615065 |
Corticosterone Methyloxidase Type Ii Deficiency |
|
Failure to thrive, Hyperkalemia, Increased circulating renin level, Hyponatremia |
OMIM:610600 |
Corticosterone Methyloxidase Type I Deficiency |
|
Failure to thrive, Hyperkalemia, Increased circulating renin level, Hyponatremia |
OMIM:203400 |
Congenital Disorder Of Glycosylation, Type Ie |
|
Knee flexion contracture, Upper limb undergrowth, Small hand, Muscular dystrophy, Camptodactyly, ... |
OMIM:608799 |
Systemic Sclerosis |
|
Osteolytic defects of the phalanges of the hand, Finger swelling, Flexion contracture, Osteomyeli... |
ORPHA:90291 |
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome |
|
Flexion contracture, Clinodactyly, Camptodactyly, Osteolysis involving bones of the upper limbs, ... |
ORPHA:88630 |
Carpenter Syndrome 1 |
|
Coxa valga, Lateral displacement of patellae, Toe syndactyly, Flared iliac wing, Camptodactyly, M... |
OMIM:201000 |
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A |
|
Knee flexion contracture, Vertebral fusion, Hip contracture, Cutaneous finger syndactyly, Multipl... |
OMIM:178110 |
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy |
|
Overlapping toe, Camptodactyly, Avascular necrosis of the capital femoral epiphysis, Arthrogrypos... |
OMIM:614262 |
Arthrogryposis, Distal, With Impaired Proprioception And Touch |
|
Flexion contracture, Lower limb muscle weakness, Inability to walk, Hip dysplasia, Camptodactyly,... |
OMIM:617146 |
Stuve-Wiedemann Syndrome 2 |
|
Bowing of the long bones, Camptodactyly, Short long bone |
OMIM:619751 |
Multiple Pterygium Syndrome, Escobar Variant |
|
Neck pterygia, Flexion contracture, Multiple joint contractures, Dysplastic patella, Hip dislocat... |
OMIM:265000 |
Camptobrachydactyly |
|
Camptodactyly of finger, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Ulna... |
ORPHA:1319 |
W Syndrome |
|
Radial bowing, Clinodactyly, Camptodactyly, Hypoplasia of the ulna, Metatarsus adductus, Elbow di... |
ORPHA:2804 |
Fibrochondrogenesis 1 |
|
Omphalocele, Hydrops fetalis, Dumbbell-shaped long bone, Short foot, Joint contracture of the han... |
OMIM:228520 |
Congenital Contractures Of The Limbs And Face, Hypotonia, And Developmental Delay |
|
Knee flexion contracture, Hip contracture, Elbow flexion contracture, Camptodactyly, Metatarsus a... |
OMIM:616266 |
Uruguay Faciocardiomusculoskeletal Syndrome |
|
Hallux valgus, Limited elbow movement, Joint contracture of the hand, Dislocation of toes, Campto... |
OMIM:300280 |
Dyssegmental Dysplasia, Rolland-Desbuquois Type |
|
Advanced ossification of carpal bones, Joint contracture of the hand, Short long bone, Camptodact... |
OMIM:224400 |
Chikungunya |
|
Pedal edema, Knee pain, Stiff interphalangeal joints, Arthritis, Enthesitis, Synovitis, Ankle joi... |
ORPHA:324625 |
Schaaf-Yang Syndrome |
|
Flexion contracture, Tapered finger, Small hand, Inability to walk, Clinodactyly, Camptodactyly, ... |
OMIM:615547 |
Imagawa-Matsumoto Syndrome |
|
Accelerated skeletal maturation, Camptodactyly, Clinodactyly, Large hands, Umbilical hernia |
OMIM:618786 |
Terminal Osseous Dysplasia |
|
Camptodactyly of finger, Short toe, Multiple joint contractures, Camptodactyly of toe, Clinodacty... |
OMIM:300244 |
Warburg-Cinotti Syndrome |
|
Osteolytic defects of the phalanges of the hand, Wrist flexion contracture, Elbow flexion contrac... |
OMIM:618175 |
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome |
|
Knee flexion contracture, Tapered finger, Finger syndactyly, Camptodactyly, Single transverse pal... |
ORPHA:435938 |
Crisponi/Cold-Induced Sweating Syndrome 1 |
|
Tapered finger, Elbow flexion contracture, Camptodactyly, Adducted thumb, Radial deviation of fin... |
OMIM:272430 |
Pseudohypoaldosteronism, Type I, Autosomal Dominant |
|
Failure to thrive, Hyperkalemia, Increased circulating renin level, Hyponatremia |
OMIM:177735 |
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive |
|
Failure to thrive, Hyperkalemia, Hyponatremia |
OMIM:264350 |
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly |
|
Knee flexion contracture, Genu valgum, Joint dislocation, Short 4th metacarpal, Metaphyseal irreg... |
OMIM:618019 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 2 |
|
Syndactyly, Camptodactyly, Osteoporosis, Lymphedema |
OMIM:616006 |
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome |
|
Camptodactyly of finger, Short toe, Joint dislocation, Tapered finger, Short 4th metacarpal, Apla... |
ORPHA:3201 |
Cerebrooculofacioskeletal Syndrome 4 |
|
Camptodactyly of finger, Wrist flexion contracture, Knee flexion contracture, Flexion contracture... |
OMIM:610758 |
Multicentric Osteolysis, Nodulosis, And Arthropathy |
|
Wrist flexion contracture, Delayed closure of the anterior fontanelle, Metacarpal osteolysis, Thi... |
OMIM:259600 |
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome |
|
Gait ataxia, Osteomyelitis, Camptodactyly, Gait disturbance, Ataxia, Flexion contracture of finger |
ORPHA:88628 |
Late-Onset Familial Hypoaldosteronism |
|
Failure to thrive, Hyperkalemia, Increased circulating renin level, Hyponatremia |
ORPHA:556037 |
Atelosteogenesis Type Ii |
|
Short phalanx of finger, Polyhydramnios, Ulnar deviation of the hand or of fingers of the hand, E... |
ORPHA:56304 |
Stuve-Wiedemann Syndrome 1 |
|
Short tibia, Short phalanx of finger, Metaphyseal rarefaction, Elbow flexion contracture, Camptod... |
OMIM:601559 |
Arthrogryposis, Distal, Type 3 |
|
Camptodactyly of finger, Short phalanx of finger, Knee flexion contracture, Decreased muscle mass... |
OMIM:114300 |
Malignant Hyperthermia, Susceptibility To, 2 |
|
Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration |
OMIM:154275 |
Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures |
|
Camptodactyly of finger, Increased variability in muscle fiber diameter, Interosseus muscle atrop... |
OMIM:617072 |
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak |
|
Hyperkalemia |
OMIM:609153 |
Classical Ehlers-Danlos Syndrome |
|
Shoulder dislocation, Blepharochalasis, Patellar dislocation, Generalized joint laxity, Incisiona... |
ORPHA:287 |
Malignant Hyperthermia, Susceptibility To, 3 |
|
Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration |
OMIM:154276 |
Spinocerebellar Ataxia, Autosomal Recessive 20 |
|
Inability to walk, Clinodactyly, Camptodactyly, Macroglossia, Ataxia, Brachydactyly, Talipes equi... |
OMIM:616354 |
Early-Onset Familial Hypoaldosteronism |
|
Failure to thrive, Hyperkalemia, Increased circulating renin level, Hyponatremia |
ORPHA:556030 |
Wieacker-Wolff Syndrome |
|
Congenital foot contractures, Camptodactyly, Hip dislocation, Palmar hyperkeratosis, Proximal pla... |
OMIM:314580 |
Idiopathic Hypereosinophilic Syndrome |
|
Arthritis, Clubbing, Pleural effusion, Ankle swelling, Skeletal muscle atrophy, Joint swelling, A... |
ORPHA:3260 |
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis |
|
Flexion contracture, Wide anterior fontanel, Humeroradial synostosis, Coronal craniosynostosis, N... |
OMIM:207410 |
Hyperkalemic Periodic Paralysis |
|
Hypokalemia, Gait disturbance, Hyperkalemia, Elevated circulating creatine kinase concentration, ... |
ORPHA:682 |
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive |
|
Hyperkalemia, Increased circulating renin level, Hyponatremia |
OMIM:620126 |
Split-Hand/Foot Malformation 3 |
|
Camptodactyly, Split hand |
OMIM:246560 |
Generalized Pseudohypoaldosteronism Type 1 |
|
Weight loss, Hyperkalemia, Increased circulating renin level, Hyponatremia, Failure to thrive in ... |
ORPHA:171876 |
Weaver Syndrome |
|
Coxa valga, Camptodactyly, Metatarsus adductus, Overlapping toe, Radial deviation of finger, Limi... |
OMIM:277590 |
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive |
|
Hyperkalemia, Increased circulating renin level, Hyponatremia |
OMIM:620125 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Hip subluxation, Flexion contracture, Tapered finger, Reduced subcutaneous adipose tissue, Elbow ... |
OMIM:619503 |
Hyperkalemic Periodic Paralysis |
|
Hyperkalemia |
OMIM:170500 |
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion |
|
Wrist flexion contracture, Polyhydramnios, Flexion contracture, Diastasis recti, Camptodactyly, M... |
ORPHA:254528 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Delayed cranial suture closure, Increased facial adipose tissue, Flexion contracture, Coxa valga,... |
OMIM:248370 |
Familial Hypoaldosteronism |
|
Hyperkalemia, Increased circulating renin level, Failure to thrive, Hyponatremia, Lethargy |
ORPHA:427 |
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency |
|
Failure to thrive, Hyperkalemia, Hyponatremia |
OMIM:614736 |
Urban-Rogers-Meyer Syndrome |
|
Camptodactyly of finger, Recurrent fractures, Toe syndactyly, Clinodactyly of the 5th finger, Abn... |
ORPHA:3409 |
Oculocerebrorenal Syndrome Of Lowe |
|
Genu valgum, Patellar dislocation, Recurrent fractures, Abnormal metaphysis morphology, Osteomala... |
ORPHA:534 |
Schwartz-Jampel Syndrome, Type 1 |
|
Wrist flexion contracture, Coxa valga, Delayed skeletal maturation, Skeletal muscle hypertrophy, ... |
OMIM:255800 |
Acromegaly |
|
Tapered finger, Macroglossia, Palpebral edema, Joint swelling, Cortical diaphyseal thickening of ... |
ORPHA:963 |
Hemangioma-Thrombocytopenia Syndrome |
|
Hyperkalemia |
OMIM:141000 |
Somatomammotropinoma |
|
Tapered finger, Macroglossia, Palpebral edema, Joint swelling, Cortical diaphyseal thickening of ... |
ORPHA:314769 |
Alg8-Cdg |
|
Hydrops fetalis, Abnormality of subcutaneous fat tissue, Camptodactyly, Macroglossia, Ataxia, Oli... |
ORPHA:79325 |
Peroxisome Biogenesis Disorder 2A (Zellweger) |
|
Joint contracture of the hand, Camptodactyly, Metatarsus adductus, Single transverse palmar creas... |
OMIM:214110 |
Recombinant Chromosome 8 Syndrome |
|
Camptodactyly, Clinodactyly of the 5th finger, Joint contracture of the hand |
OMIM:179613 |
Cousin Syndrome |
|
Hypoplastic iliac wing, Wrist flexion contracture, 2-3 toe syndactyly, Hypoplastic pubic bone, Jo... |
OMIM:260660 |
Birk-Landau-Perez Syndrome |
|
Choreoathetosis, Limb ataxia, Hyperkalemia, Difficulty walking, Increased circulating creatine ki... |
OMIM:617595 |
Pseudohypoaldosteronism, Type Iia |
|
Hyperkalemia |
OMIM:145260 |
Malignant Hyperthermia, Susceptibility To, 1 |
|
Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration |
OMIM:145600 |
Camptobrachydactyly |
|
Congenital finger flexion contractures, Short toe, Hand polydactyly, Syndactyly, Brachydactyly |
OMIM:114150 |
Hypoadrenocorticism, Familial |
|
Hyperkalemia, Hyponatremia |
OMIM:240200 |
Sandestig-Stefanova Syndrome |
|
Clinodactyly, Camptodactyly, Bilateral single transverse palmar creases, Prominent metopic ridge,... |
OMIM:618804 |
Myoglobinuria, Acute Recurrent, Autosomal Recessive |
|
Hyperkalemia, Elevated circulating creatine kinase concentration |
OMIM:268200 |
Renal Hypoplasia, Bilateral |
|
Small for gestational age, Hyperkalemia, Failure to thrive, Hyponatremia, Lethargy |
ORPHA:97362 |
Alkuraya-Kucinskas Syndrome |
|
Hand clenching, Pericardial effusion, Clinodactyly, Camptodactyly, Pleural effusion, Edema, Overl... |
OMIM:617822 |
Blau Syndrome |
|
Camptodactyly of finger, Synovitis, Limitation of joint mobility, Polyarticular arthritis, Xerost... |
ORPHA:90340 |
Ritscher-Schinzel Syndrome 2 |
|
Clinodactyly, Camptodactyly, Overlapping toe, Broad hallux, Syndactyly, Short distal phalanx of f... |
OMIM:300963 |
Stevenson-Carey Syndrome |
|
Hip dysplasia, Camptodactyly, Joint contracture of the hand |
OMIM:611961 |
Pseudohypoaldosteronism Type 2 |
|
Hyperkalemia |
ORPHA:757 |
Meier-Gorlin Syndrome 1 |
|
Flexion contracture, Coxa valga, Osteochondritis dissecans, Camptodactyly, Elbow dislocation, Abs... |
OMIM:224690 |
Marden-Walker Syndrome |
|
Decreased muscle mass, Wide anterior fontanel, Joint contracture of the hand, Camptodactyly, Radi... |
OMIM:248700 |
Arthrogryposis Multiplex Congenita 5 |
|
Polyhydramnios, Hand clenching, Flexion contracture, Akinesia, Elbow flexion contracture, Hip dis... |
OMIM:618947 |
Van Maldergem Syndrome 1 |
|
Short 4th metacarpal, Wide anterior fontanel, Cutaneous finger syndactyly, Clinodactyly, Camptoda... |
OMIM:601390 |
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb |
|
Single transverse palmar crease, Clinodactyly, Camptodactyly, Brachydactyly |
OMIM:613604 |
Mandibulofacial Dysostosis With Ptosis, Autosomal Dominant |
|
Camptodactyly, Joint contracture of the hand |
OMIM:608257 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Hypoplastic iliac wing, Short foot, Joint contracture of the hand, Lymphedema, Pericardial effusi... |
OMIM:235510 |
Dpm1-Cdg |
|
Knee flexion contracture, Muscular dystrophy, Long hallux, Camptodactyly, Ataxia, Sandal gap |
ORPHA:79322 |
Bohring-Opitz Syndrome |
|
Polyhydramnios, Short toe, Joint dislocation, Flexion contracture, Tapered finger, Ulnar deviatio... |
OMIM:605039 |
Geroderma Osteodysplasticum |
|
Increased susceptibility to fractures, Recurrent fractures, Hyperextensibility of the finger join... |
OMIM:231070 |
Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis |
|
Camptodactyly, Talipes equinovarus |
OMIM:617333 |
Meckel Syndrome, Type 10 |
|
Ulnar deviation of the hand, Camptodactyly, Postaxial foot polydactyly, Postaxial hand polydactyl... |
OMIM:614175 |
Pseudohypoaldosteronism, Type Iib |
|
Hyperchloremia, Hyperkalemia |
OMIM:614491 |
Pseudohypoaldosteronism, Type Iid |
|
Hyperchloremia, Hyperkalemia |
OMIM:614495 |
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency |
|
Clinodactyly, Camptodactyly, Macroglossia, Ataxia, Syndactyly, Abnormality of the hand, Arthrogry... |
ORPHA:369891 |
Mucolipidosis Ii Alpha/Beta |
|
Hip subluxation, Coxa valga, Flared iliac wing, Hip dislocation, Camptodactyly, Arthrogryposis mu... |
OMIM:252500 |
Genetic Recurrent Myoglobinuria |
|
Hyperphosphatemia, Highly elevated creatine kinase, Hyperkalemia, Difficulty walking, Hypocalcemia |
ORPHA:99845 |
Cerebellar Ataxia, Brain Abnormalities, And Cardiac Conduction Defects |
|
Tapered finger, Inability to walk, Clinodactyly, Camptodactyly, Ataxia, Dysmetria |
OMIM:619576 |
Camptodactyly Syndrome, Guadalajara, Type Iii |
|
Absent phalangeal crease, Joint contracture of the hand, Torticollis, Camptodactyly, Small hypoth... |
OMIM:611929 |
Congenital Disorder Of Glycosylation, Type Iig |
|
Broad femoral neck, Short foot, Small hand, Short long bone, Left ventricular hypertrophy, Campto... |
OMIM:611209 |
Shprintzen-Goldberg Craniosynostosis Syndrome |
|
Genu valgum, Wide anterior fontanel, Joint contracture of the hand, Minimal subcutaneous fat, Tal... |
OMIM:182212 |
Hunter-Macdonald Syndrome |
|
Delayed cranial suture closure, 2-3 toe syndactyly, Pseudoepiphyses, Joint contracture of the han... |
OMIM:611962 |
Brittle Cornea Syndrome |
|
Increased susceptibility to fractures, Hernia, Hallux valgus, Hip dysplasia, Corneal scarring, Ca... |
ORPHA:90354 |
Intellectual Disability-Coarse Face-Macrocephaly-Cerebellar Hypotrophy Syndrome |
|
Clinodactyly, Camptodactyly, Macroglossia, Ataxia, Palpebral edema, Brachydactyly, Broad-based ga... |
ORPHA:397709 |
Late-Onset Isolated Acth Deficiency |
|
Hyperuricemia, Weight loss, Hyperkalemia, Failure to thrive, Hypercalcemia, Hyponatremia, Lethargy |
ORPHA:199299 |
Rahman Syndrome |
|
Accelerated skeletal maturation, Camptodactyly, Talipes equinovarus |
OMIM:617537 |
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Flexion contracture, Humeroradial synostosis, Elbow flexion contracture, Narrow pelvis bone, Abno... |
ORPHA:95699 |
Pseudohypoaldosteronism, Type Iic |
|
Decreased circulating renin level, Hyperchloremia, Hyperkalemia |
OMIM:614492 |
Congenital Disorder Of Glycosylation, Type Ih |
|
Camptodactyly, Oligohydramnios, Edema, Ascites, Talipes equinovarus |
OMIM:608104 |
Meier-Gorlin Syndrome 2 |
|
Patellar aplasia, Slender long bone, Camptodactyly, Joint hypermobility, Delayed skeletal maturat... |
OMIM:613800 |
Pseudohypoaldosteronism, Type Iie |
|
Hyperchloremia, Hyperkalemia |
OMIM:614496 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1 |
|
Flexion contracture, Camptodactyly, Rocker bottom foot |
OMIM:604273 |
Autoimmune Disease, Multisystem, With Facial Dysmorphism |
|
Hallux valgus, Slender long bone, Clinodactyly, Camptodactyly, Single transverse palmar crease, D... |
OMIM:613385 |
13Q12.3 Microdeletion Syndrome |
|
Upper eyelid edema, Camptodactyly, Congenital diaphragmatic hernia, Hip dysplasia |
ORPHA:412035 |
Apparent Mineralocorticoid Excess |
|
Small for gestational age, Failure to thrive, Hypokalemia, Decreased circulating renin level |
OMIM:218030 |
Braddock-Carey Syndrome 1 |
|
Enamel hypoplasia, Small hand, Clinodactyly, Camptodactyly, Talipes equinovarus |
OMIM:619980 |
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Failure to thrive, Hypokalemia, Lethargy |
OMIM:611590 |
Basilicata-Akhtar Syndrome |
|
Short foot, Camptodactyly, Adducted thumb, Single transverse palmar crease, Short palm |
OMIM:301032 |
Congenital Isolated Acth Deficiency |
|
Hyperkalemia, Hyponatremia |
ORPHA:199296 |
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2 |
|
Hypokalemia, Hypomagnesemia, Self-biting |
OMIM:618314 |
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome |
|
Sagittal craniosynostosis, Small hand, Camptodactyly, Inguinal hernia, Bilateral single transvers... |
ORPHA:459061 |
Neuroleptic Malignant Syndrome |
|
Hyperphosphatemia, Hyperuricemia, Anxiety, Hyperkalemia, Elevated circulating creatine kinase con... |
ORPHA:94093 |
Nephronophthisis 2 |
|
Elevated circulating creatinine concentration, Hyperkalemia |
OMIM:602088 |
Opitz-Kaveggia Syndrome |
|
Delayed closure of the anterior fontanelle, Multiple joint contractures, Joint contracture of the... |
OMIM:305450 |
Chromosome 13Q33-Q34 Deletion Syndrome |
|
Tapered finger, Camptodactyly, Left ventricular hypertrophy, Overlapping toe, Single transverse p... |
OMIM:619148 |
Robinow Syndrome, Autosomal Recessive 2 |
|
Ventral hernia, Clinodactyly, Camptodactyly, Broad hallux, Broad thumb, Sandal gap, Brachydactyly... |
OMIM:618529 |
Orofaciodigital Syndrome Ix |
|
Short tibia, Hand polydactyly, Camptodactyly, Toe syndactyly |
OMIM:258865 |
Catel-Manzke Syndrome |
|
Short toe, Genu valgum, Joint dislocation, Short metacarpal, Camptodactyly, Clinodactyly of the 5... |
OMIM:616145 |
Glycogen Storage Disease Due To Aldolase A Deficiency |
|
Hyperkalemia, Elevated creatine kinase after exercise |
ORPHA:57 |
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome |
|
Joint contracture of the hand, Camptodactyly, Palmoplantar hyperkeratosis, Clinodactyly of the 5t... |
OMIM:280000 |
Glutamine Deficiency, Congenital |
|
Flexion contracture, Camptodactyly |
OMIM:610015 |
Chromosome 2P16.1-P15 Deletion Syndrome |
|
Joint contracture of the hand, Camptodactyly, Metatarsus adductus, Calcaneovalgus deformity, Arac... |
OMIM:612513 |
Frank-Ter Haar Syndrome |
|
Delayed cranial suture closure, Short phalanx of finger, Wide anterior fontanel, Short long bone,... |
OMIM:249420 |
Immunodeficiency 82 With Systemic Inflammation |
|
Arthritis, Osteomyelitis, Joint swelling, Osteomalacia |
OMIM:619381 |
Osteopathia Striata With Cranial Sclerosis |
|
Polyhydramnios, Delayed closure of the anterior fontanelle, Joint contracture of the hand, Flexio... |
OMIM:300373 |
Hypokalemic Periodic Paralysis, Type 2 |
|
Hypokalemia |
OMIM:613345 |
Familial Glucocorticoid Deficiency |
|
Failure to thrive, Hyperkalemia, Weight loss, Hyponatremia |
ORPHA:361 |
Alg12-Cdg |
|
Polyhydramnios, Abnormal bone ossification, Short long bone, Ulnar deviation of the wrist, Campto... |
ORPHA:79324 |
Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Camptodactyly of finger, Hallux valgus, Flexion contracture of toe, Tibial torsion, Elbow flexion... |
OMIM:602782 |
Arthrogryposis And Ectodermal Dysplasia |
|
Joint contracture of the hand, Camptodactyly, Skeletal muscle atrophy, Atypical scarring of skin,... |
OMIM:601701 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type |
|
Camptodactyly, Joint laxity, Talipes equinovarus, Arachnodactyly |
OMIM:301039 |
Myhre Syndrome |
|
Hypoplastic iliac wing, 2-3 toe syndactyly, Vertebral fusion, Short toe, Short long bone, Pericar... |
OMIM:139210 |
Frontometaphyseal Dysplasia 2 |
|
Decreased muscle mass, Hip contracture, Short metacarpal, Keloids, Fused cervical vertebrae, Camp... |
OMIM:617137 |
Faciodigitogenital Syndrome, Autosomal Recessive |
|
Vertebral fusion, Camptodactyly, Clinodactyly of the 5th finger, Down-sloping shoulders, Metatars... |
OMIM:227330 |
Lysosomal Acid Lipase Deficiency |
|
Hypercholesterolemia, Cognitive impairment, Weight loss, Cachexia, Hyperkalemia, Psychomotor dete... |
ORPHA:275761 |
Cerebrofacioarticular Syndrome |
|
Lymphedema, Caudal appendage, Camptodactyly, Ataxia, Syndactyly, Osteopenia, Tracheomalacia, Tali... |
ORPHA:314679 |
Mirage Syndrome |
|
Decreased body weight, Hyperkalemia, Hyponatremia |
OMIM:617053 |
Meester-Loeys Syndrome |
|
Joint dislocation, Camptodactyly, Joint hypermobility, Brachydactyly, Arachnodactyly, Joint contr... |
OMIM:300989 |
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss |
|
Failure to thrive, Hypokalemia |
OMIM:602722 |
Van Den Ende-Gupta Syndrome |
|
Tapered finger, Hallux valgus, Elbow flexion contracture, Slender metacarpals, Dislocated radial ... |
OMIM:600920 |
Native American Myopathy |
|
Muscle fiber atrophy, Inability to walk, Abnormality of skeletal muscle fiber size, Camptodactyly... |
ORPHA:168572 |
Adrenocortical Carcinoma |
|
Anxiety, Weight loss, Hypokalemia, Panic attack, Irritability, Increased body weight |
ORPHA:1501 |
Camptodactyly, Tall Stature, And Hearing Loss Syndrome |
|
Camptodactyly of toe, Camptodactyly, Broad femoral metaphyses, Arachnodactyly |
OMIM:610474 |
Ethylene Glycol Poisoning |
|
Euphoria, Hypocalcemia, Ataxia, Hyperkalemia |
ORPHA:31826 |
Takenouchi-Kosaki Syndrome |
|
Tapered finger, Lymphedema, Clinodactyly, Camptodactyly, Ataxia, Overlapping toe, Inguinal hernia... |
OMIM:616737 |
Ollier Disease |
|
Multiple enchondromatosis, Abnormal cartilage morphology |
ORPHA:296 |
Hypomagnesemia 2, Renal |
|
Hypokalemia, Chondrocalcinosis, Hypomagnesemia |
OMIM:154020 |
Galloway-Mowat Syndrome 3 |
|
Camptodactyly, Hip dislocation, Oligohydramnios, Edema, Arachnodactyly, Hiatus hernia |
OMIM:617729 |
Liddle Syndrome 3 |
|
Hypokalemia |
OMIM:618126 |
Thyrotoxic Periodic Paralysis |
|
Episodic hypokalemia, Weight loss, Transient hypophosphatemia, Hyperkalemia, Mildly elevated crea... |
ORPHA:79102 |
Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Wide anterior fontanel, Epiphyseal stippling, Camptodactyly, Metatarsus adductus, Single transver... |
OMIM:614866 |
Acute Adrenal Insufficiency |
|
Hyperuricemia, Weight loss, Hyperkalemia, Increased circulating renin level, Failure to thrive, H... |
ORPHA:95409 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 1 |
|
Hypokalemia, Weight loss |
OMIM:188580 |
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Failure to thrive, Hyperkalemia, Increased circulating renin level, Hyponatremia |
ORPHA:90791 |
Hypocalcemia, Autosomal Dominant 1 |
|
Hyperphosphatemia, Hypokalemia, Increased circulating renin level, Hypocalcemia, Hypomagnesemia |
OMIM:601198 |
Distal Tetrasomy 15Q |
|
Flexion contracture, Hernia, Camptodactyly, Arachnodactyly, Craniosynostosis |
ORPHA:314588 |
Sarcoidosis |
|
Scarring, Pleural effusion, Joint swelling, Chylothorax, Facial palsy |
ORPHA:797 |
Miller-Dieker Lissencephaly Syndrome |
|
Polyhydramnios, Polydactyly, Joint contracture of the hand, Camptodactyly, Clinodactyly of the 5t... |
OMIM:247200 |
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder |
|
Polyhydramnios, Clinodactyly, Camptodactyly, Joint hypermobility, Spina bifida occulta |
OMIM:617360 |
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects |
|
Ataxia, Conjugated hyperbilirubinemia, Hyperkalemia, Inability to walk |
OMIM:608885 |
Glass Syndrome |
|
Anterior tibial bowing, Camptodactyly, Inguinal hernia, Generalized osteoporosis, Facial hypotoni... |
OMIM:612313 |
Duane Retraction Syndrome |
|
Triphalangeal thumb, Aplasia/Hypoplasia of the thumb, Preaxial hand polydactyly, Hypoplasia of th... |
ORPHA:233 |
Hypokalemic Alkalosis, Familial, With Specific Renal Tubulopathy |
|
Increased serum prostaglandin E2, Hypokalemia, Abnormal magnesium concentration, Increased circul... |
OMIM:241150 |
Galloway-Mowat Syndrome 1 |
|
Hand clenching, Joint contracture of the hand, Camptodactyly, Ataxia, Oligohydramnios, Slender fi... |
OMIM:251300 |
Robinow Syndrome, Autosomal Dominant 2 |
|
Calvarial osteosclerosis, Partial duplication of the phalanx of hand, Clinodactyly, Camptodactyly... |
OMIM:616331 |
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency |
|
Failure to thrive, Hyperkalemia, Hyponatremia |
ORPHA:90790 |
Nablus Mask-Like Facial Syndrome |
|
Tapered finger, Joint contracture of the hand, Clinodactyly, Camptodactyly, Short hallux, Single ... |
OMIM:608156 |
Aymé-Gripp Syndrome |
|
Delayed cranial suture closure, Tapered finger, Pericardial effusion, Radioulnar synostosis, Camp... |
ORPHA:1272 |
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Short tibia, Polyhydramnios, Flexion contracture, Coxa valga, Epiphyseal stippling, Camptodactyly... |
ORPHA:96334 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 2 |
|
Hypokalemia, Weight loss |
OMIM:613239 |
Cohen-Gibson Syndrome |
|
Hypoplastic iliac wing, Flexion contracture, Coxa valga, Accelerated skeletal maturation, Camptod... |
OMIM:617561 |
Pituitary Adenoma 4, Acth-Secreting |
|
Abnormal fear/anxiety-related behavior, Hypokalemia, Emotional lability, Obesity, Abdominal obesity |
OMIM:219090 |
Cystinosis |
|
Failure to thrive, Hypophosphatemia, Gait disturbance, Hypokalemia |
ORPHA:213 |
Familial Pseudohyperkalemia |
|
Hyperkalemia |
ORPHA:90044 |
Cholera |
|
Hypokalemia, Irritability, Abnormal blood ion concentration, Hyponatremia, Hypocalcemia, Lethargy |
ORPHA:173 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Aggressive behavior, Self-injurious behavior, Hyponatremia, Hyperkalemia, Emotional lability, Dep... |
ORPHA:293987 |
East Syndrome |
|
Inability to walk, Hypokalemia, Increased circulating renin level, Ataxia, Difficulty walking, Hy... |
ORPHA:199343 |
Chromosome 16P13.3 Duplication Syndrome |
|
Short toe, Tracheobronchomalacia, Tapered finger, Short thumb, Camptodactyly, Hip dislocation, In... |
OMIM:613458 |
Hyperaldosteronism, Familial, Type Ii |
|
Hypokalemia |
OMIM:605635 |
Polymicrogyria With Or Without Vascular-Type Ehlers-Danlos Syndrome |
|
Atrophic scars, Camptodactyly, Joint hypermobility, Slender finger, Bilateral talipes equinovarus... |
OMIM:618343 |
Liddle Syndrome |
|
Hypokalemia |
ORPHA:526 |
Congenital Heart Defects And Skeletal Malformations Syndrome |
|
Clinodactyly of the 5th finger, Camptodactyly, Joint hypermobility, Congenital diaphragmatic hern... |
OMIM:617602 |
Hypokalemic Periodic Paralysis, Type 1 |
|
Hypokalemia |
OMIM:170400 |
Addison Disease |
|
Hyperuricemia, Weight loss, Hyperkalemia, Increased circulating renin level, Failure to thrive, H... |
ORPHA:85138 |
X-Linked Intellectual Disability, Snyder Type |
|
Cerebral edema, Decreased muscle mass, Recurrent fractures, Inability to walk, Slender toe, Campt... |
ORPHA:3063 |
Diarrhea 1, Secretory Chloride, Congenital |
|
Hypokalemia, Increased circulating renin level, Failure to thrive, Hypochloremia, Hyponatremia |
OMIM:214700 |
Trisomy 10P |
|
Short toe, Contracture of thumb, Decreased muscle mass, Abnormal hip joint morphology, Ulnar devi... |
ORPHA:171929 |
21Q22.11Q22.12 Microdeletion Syndrome |
|
Clinodactyly, Camptodactyly, Cone-shaped epiphyses of the phalanges of the hand, Delayed skeletal... |
ORPHA:261323 |
Renal Tubular Acidosis, Distal, 1 |
|
Elevated circulating creatinine concentration, Hypokalemia, Hypocalcemia |
OMIM:179800 |
Neurodevelopmental Disorder With Hypotonia, Language Delay, And Skeletal Defects With Or Without Seizures |
|
Flexion contracture, 3-4 finger cutaneous syndactyly, Camptodactyly, 2-3 toe cutaneous syndactyly... |
OMIM:620029 |
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Hypokalemia, Hypocalcemia, Cachexia, Hypomagnesemia |
OMIM:175500 |
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Impaired Intellectual Development |
|
Hypokalemia, Hyperamylasemia |
OMIM:604278 |
Teebi-Shaltout Syndrome |
|
Caudal appendage, Talipes equinovarus, Camptodactyly, Metatarsus adductus, Syndactyly, Single tra... |
OMIM:272950 |
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Failure to thrive, Hyperkalemia, Hyponatremia |
ORPHA:293978 |
H Syndrome |
|
Hernia, Hallux valgus, Recurrent fractures, Camptodactyly, Osteolysis, Lipodystrophy, Delayed ske... |
ORPHA:168569 |
Fanconi-Bickel Syndrome |
|
Failure to thrive, Hypophosphatemia, Hypouricemia, Hypokalemia |
OMIM:227810 |
Primary Hypomagnesemia-Refractory Seizures-Intellectual Disability Syndrome |
|
Episodic hypokalemia, Hypomagnesemia |
ORPHA:564178 |
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Abnormal circulating cholesterol concentration, Hyperkalemia, Increased circulating renin level, ... |
ORPHA:168558 |
Malignant Hyperthermia Of Anesthesia |
|
Hyperphosphatemia, Hyperkalemia, Elevated creatine kinase after exercise |
ORPHA:423 |
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Abnormal circulating cholesterol concentration, Hyperkalemia, Increased circulating renin level, ... |
ORPHA:289548 |
Marfan Syndrome |
|
Protrusio acetabuli, Arachnodactyly, Flexion contracture, Decreased muscle mass, Reduced subcutan... |
OMIM:154700 |
Dpagt1-Cdg |
|
Flexion contracture, Akinesia, Inability to walk, Clinodactyly, Camptodactyly, Ataxia, Lipodystro... |
ORPHA:86309 |
Cardiofacioneurodevelopmental Syndrome |
|
Camptodactyly, Clinodactyly of the 5th finger, Brachydactyly |
OMIM:619123 |
Carpenter Syndrome 2 |
|
Knee flexion contracture, Coxa vara, Diaphragmatic eventration, Cutaneous finger syndactyly, Shor... |
OMIM:614976 |
Cutis Laxa, Autosomal Recessive, Type Iid |
|
Reduced subcutaneous adipose tissue, Hip dysplasia, Camptodactyly, Hip dislocation, Inguinal hern... |
OMIM:617403 |
Exercise-Induced Malignant Hyperthermia |
|
Hyperphosphatemia, Hyperkalemia, Ataxia, Elevated circulating creatine kinase concentration, Hypo... |
ORPHA:466650 |
Bartter Syndrome Type 4 |
|
Small for gestational age, Hypokalemia, Increased circulating renin level, Emotional lability, Fa... |
ORPHA:89938 |
Brachycephaly, Deafness, Cataract, Microstomia, And Impaired Intellectual Development |
|
Tapered finger, Camptodactyly, Brachydactyly, Finger clinodactyly, Rocker bottom foot |
OMIM:601353 |
Fryns Syndrome |
|
Polyhydramnios, Joint contracture of the hand, Short thumb, Camptodactyly, Single transverse palm... |
OMIM:229850 |
Bartter Syndrome, Type 5, Antenatal, Transient |
|
Hypokalemia, Hypochloremia, Increased circulating renin level, Hyponatremia |
OMIM:300971 |
Chromosome 8Q21.11 Deletion Syndrome |
|
Syndactyly, Camptodactyly, Absent palmar crease, Short metacarpal |
OMIM:614230 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type |
|
Flexion contracture, Tapered finger, Small hand, Clinodactyly, Camptodactyly, Overlapping toe, De... |
OMIM:309590 |
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome |
|
Overlapping toe, Camptodactyly |
ORPHA:363444 |
Gitelman Syndrome |
|
Hypokalemia, Increased circulating renin level, Ataxia, Failure to thrive, Chondrocalcinosis, Hyp... |
OMIM:263800 |
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects |
|
Tapered finger, Small hand, Hip dysplasia, 1-2 toe syndactyly, Clinodactyly, Camptodactyly, Broad... |
OMIM:301044 |
Robinow Syndrome, Autosomal Dominant 3 |
|
Short phalanx of finger, Clinodactyly, Camptodactyly, Syndactyly, Broad thumb, Brachydactyly, Omp... |
OMIM:616894 |
Normosmic Congenital Hypogonadotropic Hypogonadism |
|
Generalized joint laxity, Camptodactyly, Delayed skeletal maturation, Osteopenia, Osteoporosis |
ORPHA:432 |
Ayme-Gripp Syndrome |
|
Delayed cranial suture closure, Tapered finger, Camptodactyly, Radioulnar synostosis, Brachydactyly |
OMIM:601088 |
Neu-Laxova Syndrome 1 |
|
Polyhydramnios, Finger syndactyly, Joint contracture of the hand, Yellow subcutaneous tissue cove... |
OMIM:256520 |
Liddle Syndrome 2 |
|
Decreased circulating renin level, Hypokalemia |
OMIM:618114 |
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome |
|
Tibial torsion, Long hallux, Camptodactyly, Macroglossia, Metatarsus adductus, Abnormal thumb mor... |
ORPHA:500095 |
Hemorrhagic Fever-Renal Syndrome |
|
Elevated circulating creatinine concentration, Hyperphosphatemia, Decreased body weight, Hyperkal... |
ORPHA:340 |
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome |
|
Flexion contracture, Tapered finger, Lymphedema, Clinodactyly, Camptodactyly, Overlapping toe, In... |
ORPHA:487796 |
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness |
|
Hypokalemia, Hyperchloriduria, Failure to thrive, Hypochloremia, Hyponatremia |
OMIM:613090 |
Loeys-Dietz Syndrome 2 |
|
Protrusio acetabuli, Joint contracture of the hand, Camptodactyly, Joint laxity, Brachydactyly, I... |
OMIM:610168 |
Schinzel-Giedion Syndrome |
|
Hypoplastic pubic bone, Wide anterior fontanel, Short 1st metacarpal, Radioulnar synostosis, Camp... |
ORPHA:798 |
Hypokalemic Periodic Paralysis |
|
Episodic hypokalemia, Mildly elevated creatine kinase |
ORPHA:681 |
Infection-Related Hemolytic Uremic Syndrome |
|
Septic arthritis, Hypocalcemia, Hyperkalemia, Hyponatremia |
ORPHA:544482 |
Apparent Mineralocorticoid Excess |
|
Decreased circulating renin level, Failure to thrive, Hypokalemia |
ORPHA:320 |
Infantile Nephropathic Cystinosis |
|
Cognitive impairment, Hypophosphatemia, Hypokalemia, Abnormal blood ion concentration, Failure to... |
ORPHA:411629 |
Colchicine Poisoning |
|
Hypophosphatemia, Hypokalemia, Abnormal blood ion concentration, Hyponatremia, Hypocalcemia, Hypo... |
ORPHA:31824 |
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency |
|
Clinodactyly, Camptodactyly |
ORPHA:228426 |
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
|
Mesoaxial foot polydactyly, Camptodactyly, Clinodactyly of the 5th finger, Joint laxity, Joint hy... |
OMIM:612474 |
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency |
|
Hyperkalemia, Hyponatremia |
OMIM:201810 |
Liddle Syndrome 1 |
|
Decreased circulating renin level, Hypokalemia |
OMIM:177200 |
Renal Tubular Acidosis Iii |
|
Hypokalemia |
OMIM:267200 |
Bartter Syndrome, Type 1, Antenatal |
|
Increased serum prostaglandin E2, Small for gestational age, Hypokalemia, Increased circulating r... |
OMIM:601678 |
Loeys-Dietz Syndrome 1 |
|
Camptodactyly, Joint laxity, Arachnodactyly, Postaxial hand polydactyly, Craniosynostosis, Talipe... |
OMIM:609192 |
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities |
|
Inability to walk, Calcinosis, Hypokalemia, Congenital hip dislocation, Hyponatremia, Hypocalcemia |
OMIM:617913 |
Osteootohepatoenteric Syndrome |
|
Failure to thrive, Hypokalemia, Increased serum bile acid concentration, Weight loss |
OMIM:619377 |
Fanconi Renotubular Syndrome 1 |
|
Hypokalemia, Hypophosphatemia |
OMIM:134600 |
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance |
|
Dysdiadochokinesis, Hypokalemia, Increased circulating renin level, Ataxia, Hypomagnesemia |
OMIM:612780 |
Loeys-Dietz Syndrome 3 |
|
Protrusio acetabuli, Hip osteoarthritis, Osteochondritis dissecans, Talipes equinovarus, Camptoda... |
OMIM:613795 |
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Weight loss, Hyperkalemia, Failure to thrive, Hypochloremia, Hyponatremia |
ORPHA:90794 |
Hepatocellular Carcinoma |
|
Weight loss, Hypokalemia, Hyperbilirubinemia, Emotional lability, Hypercalcemia, Hyponatremia, Hy... |
ORPHA:88673 |
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome |
|
Hypokalemia, Athetosis |
ORPHA:369929 |
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease |
|
Elevated circulating creatinine concentration, Hypokalemia, Elevated circulating alpha-fetoprotei... |
OMIM:613095 |
Juvenile Nephropathic Cystinosis |
|
Hypocalcemic tetany, Hypophosphatemia, Hypokalemia, Failure to thrive, Hyponatremia, Elevated cir... |
ORPHA:411634 |
Familial Hyperaldosteronism Type I |
|
Hypokalemia |
ORPHA:403 |
Primary Aldosteronism, Seizures, And Neurologic Abnormalities |
|
Decreased circulating renin level, Hypokalemia, Athetosis |
OMIM:615474 |
Familial Hyperaldosteronism Type Ii |
|
Hypokalemia |
ORPHA:404 |
Corticosteroid-Binding Globulin Deficiency |
|
Hypokalemia |
OMIM:611489 |
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis |
|
Humeroradial synostosis, Joint contracture of the hand, Small for gestational age, Decreased circ... |
OMIM:201750 |
Juvenile Polyposis Syndrome |
|
Failure to thrive, Hypokalemia, Hypoalbuminemia |
OMIM:174900 |
Hyperaldosteronism, Familial, Type Iii |
|
Decreased circulating renin level, Hypokalemia |
OMIM:613677 |
Cystinosis, Nephropathic |
|
Reduced blood urea nitrogen, Genu valgum, Weight loss, Decreased plasma carnitine, Hypophosphatem... |
OMIM:219800 |
Lethal Kniest-Like Dysplasia |
|
Abnormal cartilage matrix, Abnormal cartilage morphology |
ORPHA:2347 |
Romano-Ward Syndrome |
|
Hypokalemia |
ORPHA:101016 |
Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Unconjugated hyperbilirubinemia, Hypokalemia, Hyponatremia, Elevated circulating creatinine conce... |
ORPHA:90038 |
Familial Hyperaldosteronism Type Iii |
|
Hypokalemia |
ORPHA:251274 |
Ectopic Aldosterone-Producing Tumor |
|
Decreased circulating renin level, Hypokalemia |
ORPHA:231632 |
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9 |
|
Failure to thrive, Hypokalemia, Ataxia, Hyponatremia |
OMIM:618426 |
Renpenning Syndrome 1 |
|
Synostosis of the proximal phalanx of the thumb with the 1st metacarpal, Camptodactyly, Clinodact... |
OMIM:309500 |
Chromosome 1P36 Deletion Syndrome, Distal |
|
Camptodactyly of finger, Delayed closure of the anterior fontanelle, Short 5th finger, Wide anter... |
OMIM:607872 |
Bartter Syndrome, Type 2, Antenatal |
|
Increased serum prostaglandin E2, Small for gestational age, Hypokalemia, Increased circulating r... |
OMIM:241200 |
Chromosome 1P36 Deletion Syndrome, Proximal |
|
Clinodactyly, Camptodactyly |
OMIM:619343 |
Ablepharon-Macrostomia Syndrome |
|
Ventral hernia, Short metacarpal, Cutaneous finger syndactyly, Toe syndactyly, Camptodactyly, Cli... |
OMIM:200110 |
Primary Unilateral Adrenal Hyperplasia |
|
Decreased circulating renin level, Hypokalemia |
ORPHA:231580 |
Andersen Cardiodysrhythmic Periodic Paralysis |
|
Hypokalemia, Depression |
OMIM:170390 |
Primary Fanconi Renotubular Syndrome |
|
Weight loss, Hypophosphatemia, Decreased plasma carnitine, Hypokalemia, Hypophosphatemic rickets,... |
ORPHA:3337 |
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion |
|
Decreased circulating renin level, Hypokalemia |
ORPHA:231625 |
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness |
|
Hypokalemia, Hyperchloriduria, Failure to thrive, Hypochloremia, Hyponatremia |
OMIM:602522 |
Marburg Hemorrhagic Fever |
|
Aggressive behavior, Arthritis, Hypokalemia, Elevated circulating creatine kinase concentration, ... |
ORPHA:99826 |
Mercury Poisoning |
|
Hypokalemia |
ORPHA:330021 |
Pearson Syndrome |
|
Hyperalaninemia, Small for gestational age, Hypophosphatemia, Hypokalemia, Ataxia, Hypocalcemia, ... |
ORPHA:699 |
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Decreased circulating renin level, Failure to thrive, Hypokalemia |
ORPHA:90793 |
Helix Syndrome |
|
Hypokalemia, Hypermagnesemia |
OMIM:617671 |
Gitelman Syndrome |
|
Chondrocalcinosis, Hypokalemia, Hypermagnesemia, Gout, Failure to thrive, Hypocalcemia, Hypomagne... |
ORPHA:358 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Genu valgum, Flexion contracture, Hallux valgus, Inability to walk, Long hallux, Camptodactyly, A... |
ORPHA:261537 |
Bartter Syndrome, Type 3 |
|
Hyperchloriduria, Hypokalemia, Increased circulating renin level |
OMIM:607364 |
Mowat-Wilson Syndrome |
|
Genu valgum, Flexion contracture, Tapered finger, Hallux valgus, Recurrent fractures, Inability t... |
ORPHA:2152 |
Multiple Osteochondromas |
|
Abnormality of the knee, Genu valgum, Talipes valgus, Abnormal carpal morphology, Femoroacetabula... |
ORPHA:321 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Genu valgum, Flexion contracture, Hallux valgus, Inability to walk, Long hallux, Camptodactyly, A... |
ORPHA:261552 |
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency |
|
Decreased circulating renin level, Hypokalemia |
ORPHA:90795 |
Vipoma |
|
Hypokalemia, Hypercalcemia, Weight loss |
ORPHA:97282 |
Microphthalmia, Syndromic 1 |
|
Abnormal palmar dermatoglyphics, Joint contracture of the hand, Clinodactyly, Camptodactyly, Down... |
OMIM:309800 |
Rabson-Mendenhall Syndrome |
|
Hypokalemia, Increased C-peptide level |
ORPHA:769 |
Immunodeficiency 87 And Autoimmunity |
|
Small for gestational age, Hypokalemia, Hypertriglyceridemia, Elevated circulating C-reactive pro... |
OMIM:619573 |
Distal Renal Tubular Acidosis |
|
Failure to thrive, Hypokalemia |
ORPHA:18 |
Encephalocraniocutaneous Lipomatosis |
|
Osteochondrosis, Abnormal cartilage morphology |
ORPHA:2396 |
Scorpion Envenomation |
|
Hypokalemia, Increased circulating creatine kinase MB isoform, Ataxia, Increased circulating NT-p... |
ORPHA:466677 |
Leprechaunism |
|
Failure to thrive, Hypokalemia, Decreased body weight, Increased circulating renin level |
ORPHA:508 |
Proximal Renal Tubular Acidosis |
|
Failure to thrive, Hypokalemia, Bicarbonaturia |
ORPHA:47159 |
Tsh-Secreting Pituitary Adenoma |
|
Hypokalemia, Weight loss |
ORPHA:91347 |
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency |
|
Decreased circulating renin level, Hypokalemia |
OMIM:202010 |
Nelson Syndrome |
|
Hypokalemia |
ORPHA:199244 |
Generalized Glucocorticoid Resistance Syndrome |
|
Hypokalemia |
ORPHA:786 |
Vascular Ehlers-Danlos Syndrome |
|
Joint dislocation, Cognitive impairment, Hypokalemia, Congenital hip dislocation, Osteoarthritis |
ORPHA:286 |