Arthrogryposis, Distal, Type 10 |
|
Hamstring contractures, Tip-toe gait, Camptodactyly of finger, Wrist flexion contracture, Distal ... |
OMIM:187370 |
Osteochondritis Dissecans |
|
Joint swelling, Joint stiffness, Decreased hip abduction, Quadriceps muscle atrophy, Abnormal mus... |
ORPHA:2764 |
Panner Disease |
|
Joint swelling, Large elbow, Abnormality of the humerus, Limited elbow extension, Limited elbow m... |
ORPHA:97336 |
Arthrogryposis, Congenital, Lower Limb, X-Linked |
|
Hip contracture, Gait disturbance, Arthrogryposis multiplex congenita, Knee flexion contracture, ... |
OMIM:300158 |
Osgood-Schlatter Disease |
|
Irregular proximal tibial epiphyses, Large knee, Shuffling gait, Difficulty walking, Knee pain, A... |
ORPHA:97335 |
Intermittent Hydrarthrosis |
|
Joint swelling, Knee joint hypermobility, Chondrocalcinosis, Abnormality of the knee |
ORPHA:329967 |
Sinding-Larsen-Johansson Disease |
|
Joint swelling, Limitation of knee mobility, Knee pain, Painless fractures due to injury, Osteoch... |
ORPHA:97337 |
Progressive Pseudorheumatoid Dysplasia |
|
Joint swelling, Joint stiffness, Coxa vara, Joint contracture of the hand, Enlarged metacarpophal... |
OMIM:208230 |
Familial Calcium Pyrophosphate Deposition |
|
Joint swelling, Joint dislocation, Chondrocalcinosis, Osteoarthritis, Arthritis, Calcification of... |
ORPHA:1416 |
Genochondromatosis Type 1 |
|
Abnormality of the knee, Multiple enchondromatosis |
ORPHA:85197 |
Rheumatoid Factor-Positive Polyarticular Juvenile Idiopathic Arthritis |
|
Joint swelling, Progressive joint destruction, Limitation of joint mobility, Reduced bone mineral... |
ORPHA:85435 |
Arthrogryposis, Distal, Type 1B |
|
Talipes equinovarus, Joint contracture of the hand, Camptodactyly, Distal arthrogryposis, Arthrog... |
OMIM:614335 |
Acrocephalopolysyndactyly Type Iv |
|
Joint contracture of the hand, Hand polydactyly, Syndactyly, Camptodactyly, Ulnar deviation of th... |
OMIM:201020 |
Camptodactyly-Tall Stature-Scoliosis-Hearing Loss Syndrome |
|
Camptodactyly of finger, Abnormality of lower limb joint |
ORPHA:85164 |
Tenosynovial Giant Cell Tumor |
|
Joint swelling, Joint stiffness, Limitation of joint mobility, Chondrocalcinosis, Abnormality of ... |
ORPHA:66627 |
Popliteal Cyst |
|
Joint swelling, Abnormality of the knee |
OMIM:175750 |
Mosaic Trisomy 15 |
|
Abnormality of the hand, Camptodactyly of finger, Deviation of finger |
ORPHA:1706 |
Progressive Pseudorheumatoid Arthropathy Of Childhood |
|
Irregular acetabular roof, Genu valgum, Polyarticular arthropathy, Generalized osteoporosis, Join... |
ORPHA:1159 |
Cranio-Osteoarthropathy |
|
Joint swelling, Joint stiffness, Osteoarthritis, Abnormality of tibia morphology, Arthritis, Devi... |
ORPHA:1525 |
Camptodactyly 1 |
|
Camptodactyly of finger, Knee dislocation, Joint subluxation |
OMIM:114200 |
Osteochondrosis Of The Tarsal Bone |
|
Avascular necrosis, Ankle pain, Chondritis, Antalgic gait, Arthritis, Tarsal sclerosis, Juvenile ... |
ORPHA:563991 |
Prader-Willi Habitus, Osteopenia, And Camptodactyly |
|
Joint contracture of the hand, Osteopenia, Osteoporosis, Camptodactyly, Enlarged epiphyses |
OMIM:264010 |
Syndactyly Type 2 |
|
Clinodactyly of the 5th finger, 2-3 toe syndactyly, Camptodactyly of finger, Symphalangism affect... |
ORPHA:93403 |
Legg-Calvé-Perthes Disease |
|
Avascular necrosis, Joint dislocation, Cartilage destruction, Delayed skeletal maturation, Skelet... |
ORPHA:2380 |
Metaphyseal Dysplasia, Spahr Type |
|
Metaphyseal dysplasia, Metaphyseal sclerosis, Metaphyseal widening, Short lower limbs, Genu valgu... |
OMIM:250400 |
Spondylocamptodactyly |
|
Camptodactyly of finger, Camptodactyly |
OMIM:600000 |
Digitotalar Dysmorphism |
|
Camptodactyly of finger, Rocker bottom foot, Ulnar deviation of finger |
OMIM:126050 |
Arthrogryposis, Distal, Type 2B2 |
|
Short toe, Talipes equinovarus, Adducted thumb, Overlapping fingers, Brachydactyly, Ulnar deviati... |
OMIM:618435 |
Osteosarcoma |
|
Abnormal femoral metaphysis morphology, Joint swelling, Abnormal tibial metaphysis morphology, Pa... |
ORPHA:668 |
Synpolydactyly 1 |
|
Clinodactyly of the 5th finger, Mesoaxial hand polydactyly, 6 metacarpals, 2nd-5th toe middle pha... |
OMIM:186000 |
Hemochromatosis Type 4 |
|
Joint swelling, Joint dislocation, Limitation of joint mobility |
ORPHA:139491 |
Arthrogryposis, Distal, Type 11 |
|
Limited pronation/supination of forearm, Talipes equinovarus, Camptodactyly, Metatarsus adductus,... |
OMIM:620019 |
Corpus Callosum, Agenesis Of |
|
Joint contracture of the hand, Camptodactyly |
OMIM:217990 |
Liebenberg Syndrome |
|
Radially deviated wrists, Metaphyseal widening, 2-3 finger syndactyly, Brachydactyly, Joint contr... |
OMIM:186550 |
Syndactyly Type 5 |
|
Short distal phalanx of finger, Clinodactyly of the 5th finger, 2-3 toe syndactyly, Camptodactyly... |
ORPHA:93406 |
Syndactyly Type 3 |
|
Short toe, Camptodactyly of finger, Finger syndactyly |
ORPHA:93404 |
Farber Lipogranulomatosis |
|
Joint swelling, Hyperextensibility of the finger joints, Ulnar deviation of the wrist, Arthritis,... |
OMIM:228000 |
Wahab Syndrome |
|
Adducted thumb, Syndactyly, Ankylosis, Camptodactyly, Short foot, Clinodactyly, Short palm, Short... |
OMIM:615170 |
Metachondromatosis |
|
Abnormal joint morphology, Bowing of the long bones, Multiple enchondromatosis |
OMIM:156250 |
Rheumatoid Arthritis |
|
Joint swelling, Joint stiffness, Swan neck-like deformities of the fingers, Interphalangeal joint... |
OMIM:180300 |
Autosomal Recessive Spastic Paraplegia Type 45 |
|
Spastic gait, Ankle flexion contracture, Flexion contracture of toe, Knee flexion contracture |
ORPHA:320396 |
Multiple Epiphyseal Dysplasia Type 1 |
|
Joint stiffness, Delayed epiphyseal ossification, Coxa vara, Limitation of joint mobility, Finger... |
ORPHA:93308 |
Spondyloepiphyseal Dysplasia Tarda |
|
Abnormally ossified vertebrae, Arthralgia of the hip, Knee pain, Abnormal cartilage morphology, P... |
ORPHA:93284 |
Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome |
|
Coxa vara, Flattened metacarpal heads, Flattened metatarsal heads, Wrist flexion contracture, Con... |
OMIM:208250 |
Distal Arthrogryposis Type 1 |
|
Joint stiffness, Abnormal hip bone morphology, Adducted thumb, Camptodactyly of finger, Overlappi... |
ORPHA:1146 |
Camptosynpolydactyly, Complex |
|
Cutaneous syndactyly, Syndactyly, Polydactyly, Camptodactyly |
OMIM:607539 |
Juvenile Idiopathic Arthritis |
|
Joint swelling, Joint stiffness, Joint dislocation, Cartilage destruction, Arthritis, Abnormal jo... |
ORPHA:92 |
Majeed Syndrome |
|
Joint swelling, Osteomyelitis, Flexion contracture, Bone pain, Delayed skeletal maturation |
OMIM:609628 |
Syndactyly Type 4 |
|
Short tibia, Camptodactyly of finger, 6 metacarpals, Triphalangeal thumb, Hand polydactyly, Foot ... |
ORPHA:93405 |
Coloboma Of Macula-Brachydactyly Type B Syndrome |
|
Short distal phalanx of finger, Camptodactyly of finger, Type B brachydactyly, Broad thumb |
ORPHA:1471 |
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis |
|
Joint swelling, Oligoarthritis, Joint stiffness, Flexion contracture, Abnormality of the hand, Ab... |
ORPHA:85408 |
Syndactyly, Type V |
|
Short distal phalanx of finger, Carpal synostosis, 3-4 toe syndactyly, Joint contracture of the h... |
OMIM:186300 |
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies |
|
Overlapping toe, Clinodactyly of the 5th finger, Short thumb, Camptodactyly |
OMIM:618453 |
Spastic Paraplegia 20, Autosomal Recessive |
|
Dysmetria, Flexion contracture, Ankle clonus, Brachydactyly, Lower limb muscle weakness, Distal a... |
OMIM:275900 |
Familial Afibrinogenemia |
|
Joint swelling |
ORPHA:98880 |
Masa Syndrome |
|
Gait disturbance, Camptodactyly of finger, Clinodactyly of the 5th finger, Hand clenching |
ORPHA:2466 |
Calpain-3-Related Limb-Girdle Muscular Dystrophy R1 |
|
Hamstring contractures, Scapular muscle atrophy, Pectoralis amyotrophy, Tip-toe gait, Flexion con... |
ORPHA:267 |
Patterson Pseudoleprechaunism Syndrome |
|
Joint swelling, Palmoplantar cutis laxa, Talipes valgus, Irregular acetabular roof, Large hands, ... |
OMIM:169170 |
Moderate Hemophilia A |
|
Joint hemorrhage, Joint swelling, Hip contracture, Limitation of joint mobility, Cartilage destru... |
ORPHA:169805 |
Brachydactyly-Distal Symphalangism Syndrome |
|
Distal symphalangism of hands, Short 1st metacarpal, Camptodactyly of finger, Chess-pawn distal p... |
OMIM:113450 |
Ectrodactyly-Polydactyly Syndrome |
|
Ectrodactyly, Camptodactyly of finger, Brachydactyly, Symphalangism affecting the phalanges of th... |
ORPHA:1892 |
Ectodermal Dysplasia, Ectrodactyly, And Macular Dystrophy Syndrome |
|
Split hand, Syndactyly, Joint contracture of the hand, Camptodactyly |
OMIM:225280 |
Distal Symphalangism |
|
Joint stiffness, Camptodactyly of finger, Synostosis of carpal bones, Symphalangism affecting the... |
ORPHA:3248 |
Hemophilia A |
|
Joint hemorrhage, Joint swelling, Intramuscular hematoma, Abnormality of the elbow |
ORPHA:98878 |
Epidermolytic Palmoplantar Keratoderma |
|
Palmar hyperkeratosis, Diffuse palmoplantar hyperkeratosis, Camptodactyly, Palmoplantar hyperkera... |
ORPHA:2199 |
Brachydactyly, Type B1 |
|
Wide anterior fontanel, Joint contracture of the hand, Delayed cranial suture closure, Syndactyly... |
OMIM:113000 |
Extensor Tendons Of Finger Anomalies |
|
Camptodactyly of finger, Multiple lipomas, Osteoporosis, Skeletal muscle atrophy, Limitation of j... |
ORPHA:3294 |
Brachydactyly-Syndactyly Syndrome |
|
Short digit, Brachydactyly, Syndactyly, Short phalanx of finger, Camptodactyly, Oligodactyly, Fin... |
OMIM:610713 |
Arthrogryposis, Distal, Type 1A |
|
Overlapping toe, Decreased hip abduction, Hip contracture, Talipes equinovarus, Joint contracture... |
OMIM:108120 |
Martsolf Syndrome 2 |
|
Overlapping toe, Camptodactyly of finger, Camptodactyly |
OMIM:619420 |
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases |
|
Talipes equinovarus, Joint contracture of the hand, Inguinal hernia, Small thenar eminence, Derma... |
OMIM:211960 |
Proximal Symphalangism |
|
Clinodactyly of the 5th finger, Elbow ankylosis, Finger syndactyly, Camptodactyly of finger, Syno... |
ORPHA:3250 |
Bethlem Myopathy 1 |
|
Torticollis, Camptodactyly of finger, Limb-girdle muscle weakness, Elbow flexion contracture, Con... |
OMIM:158810 |
Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments |
|
Apathy, Bradykinesia, Anxiety, Inappropriate behavior, Falls, Memory impairment, Shuffling gait, ... |
ORPHA:412066 |
Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect |
|
Hip contracture, Internally rotated shoulders, Talipes equinovarus, Flexion contracture, Scapular... |
OMIM:617468 |
Chromosome 16P13.3 Duplication Syndrome |
|
Short toe, Short phalanx of finger, Tapered finger, Long fingers, Camptodactyly, Proximal placeme... |
OMIM:613458 |
Severe Hemophilia A |
|
Joint hemorrhage, Joint swelling, Progressive joint destruction, Limitation of joint mobility, In... |
ORPHA:169802 |
Systemic-Onset Juvenile Idiopathic Arthritis |
|
Juvenile rheumatoid arthritis, Joint swelling, Pleural effusion |
ORPHA:85414 |
Fetal Akinesia Deformation Sequence 4 |
|
Flexion contracture, Camptodactyly, Polyhydramnios, Arthrogryposis multiplex congenita, Rocker bo... |
OMIM:618393 |
Stiff Skin Syndrome |
|
Camptodactyly, Lipodystrophy, Elbow flexion contracture, Knee flexion contracture, Limited should... |
OMIM:184900 |
Mesomelic Limb Shortening And Bowing |
|
Bowing of the legs, Mesomelic leg shortening, Camptodactyly of finger, Bowing of the arm, Mesomel... |
OMIM:249710 |
Alkaptonuria |
|
Joint swelling, Joint stiffness, Joint dislocation, Tendon rupture, Reduced bone mineral density,... |
ORPHA:56 |
Midline Malformations, Multiple, With Limb Abnormalities And Hypopituitarism |
|
Joint contracture of the hand, Overlapping fingers, Micromelia, Camptodactyly, Limb undergrowth |
OMIM:601016 |
Wilson Disease |
|
Joint swelling, Proximal muscle weakness in lower limbs, Abnormality of the hand, Arthritis, Path... |
ORPHA:905 |
Eng-Strom Syndrome |
|
Camptodactyly of finger, Brachydactyly, Arthritis |
ORPHA:1937 |
Pseudoleprechaunism Syndrome, Patterson Type |
|
Joint swelling, Metaphyseal sclerosis, Palmoplantar cutis laxa, Large hands, Genu valgum, Flat ac... |
ORPHA:2976 |
Arthrogryposis, Impaired Intellectual Development, And Seizures |
|
Knee dislocation, Camptodactyly of finger, Arthrogryposis multiplex congenita, Hip dislocation, A... |
OMIM:615553 |
Chromosome 20Q11-Q12 Deletion Syndrome |
|
Adducted thumb, Brachydactyly, Finger clinodactyly, Camptodactyly, Tarsal osteovalgus |
OMIM:614257 |
Neurodevelopmental Disorder With Seizures And Gingival Overgrowth |
|
Camptodactyly of finger, Gait ataxia, Flexion contracture of toe |
OMIM:619323 |
Camptodactyly-Taurinuria Syndrome |
|
Camptodactyly of toe, Camptodactyly of finger |
ORPHA:1325 |
Perching Syndrome |
|
Flexion contracture, Camptodactyly |
OMIM:617055 |
Mesomelic Dysplasia, Kantaputra Type |
|
Clinodactyly of the 5th finger, Camptodactyly of finger, Abnormality of the ankles, Synostosis of... |
ORPHA:1836 |
Dysplasia Epiphysealis Hemimelica With Chondromas And Osteochondromas |
|
Joint swelling |
OMIM:127820 |
Adult-Onset Still Disease |
|
Joint swelling, Cartilage destruction, Arthritis |
ORPHA:829 |
Leri Pleonosteosis |
|
Joint stiffness, Abnormality of finger, Genu recurvatum, Camptodactyly of finger, Brachydactyly, ... |
ORPHA:2900 |
Aphalangy-Syndactyly-Microcephaly Syndrome |
|
Short distal phalanx of finger, Split foot, Camptodactyly of finger, Symphalangism affecting the ... |
ORPHA:1113 |
Ulnar Hemimelia |
|
Aplasia/Hypoplasia of the ulna, Upper limb phocomelia, Radial club hand, Glenoid fossa hypoplasia... |
ORPHA:93320 |
Lyme Disease |
|
Joint swelling, Arthritis |
ORPHA:91546 |
Blau Syndrome |
|
Joint swelling, Cystoid macular edema, Camptodactyly of finger, Tendonitis, Arthritis, Flexion co... |
OMIM:186580 |
Arthrogryposis, Distal, Type 1C |
|
Hip contracture, Metacarpophalangeal joint contracture, Clinodactyly of the 5th finger, Talipes e... |
OMIM:619110 |
Pachydermoperiostosis |
|
Avascular necrosis, Joint swelling, Osteomyelitis, Small hand, Genu varum, Osteoporosis, Arthriti... |
ORPHA:2796 |
Sillence Syndrome |
|
Abnormal morphology of the proximal phalanx of the hallux, Large iliac wing, Intervertebral disc ... |
ORPHA:3168 |
Aase-Smith Syndrome |
|
Joint stiffness, Multiple joint contractures, Talipes equinovarus, Slender finger, Abnormal hip b... |
ORPHA:916 |
Hyperekplexia 4 |
|
Talipes equinovarus, Inguinal hernia, Flexion contracture, Adducted thumb, Camptodactyly, Distal ... |
OMIM:618011 |
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome |
|
Abnormal hip bone morphology, Camptodactyly of finger, Mesomelia, Abnormal metacarpal morphology,... |
ORPHA:2631 |
20Q11.2 Microdeletion Syndrome |
|
Brachydactyly, Finger clinodactyly, Camptodactyly, Adducted thumb |
ORPHA:444051 |
Symptomatic Form Of Hemochromatosis Type 1 |
|
Joint swelling, Joint stiffness, Osteoporosis, Arthritis, Abnormal metacarpophalangeal joint morp... |
ORPHA:465508 |
Multiple Epiphyseal Dysplasia Type 5 |
|
Joint stiffness, Decreased hip abduction, Osteoarthritis of the small joints of the hand, Delayed... |
ORPHA:93311 |
Hyperchlorhidrosis, Isolated |
|
Failure to thrive, Hyperkalemia, Hyponatremia |
OMIM:143860 |
Arthrogryposis, Distal, Type 2B3 |
|
Overlapping fingers, Talipes equinovarus, Hallux valgus, Camptodactyly |
OMIM:618436 |
Farber Disease |
|
Joint swelling, Short toe, Flexion contracture, Abnormality of the hand, Hydrops fetalis, Osteopo... |
ORPHA:333 |
Whistling Face Syndrome, Recessive Form |
|
Talipes equinovarus, Inguinal hernia, Ulnar deviation of finger, Camptodactyly, Shoulder flexion ... |
OMIM:277720 |
Emery-Nelson Syndrome |
|
Metacarpophalangeal joint contracture, Camptodactyly of finger, Brachydactyly, Abnormal thumb mor... |
ORPHA:1927 |
Spondyloepimetaphyseal Dysplasia With Abnormal Dentition |
|
Metaphyseal irregularity, Slender finger, Flared metaphysis, Broad femoral neck, Flattened epiphy... |
OMIM:601668 |
Huntington Disease-Like 2 |
|
Apathy, Bradykinesia, Depression, Anxiety, Weight loss, Irritability, Dementia |
OMIM:606438 |
Myopathy, Congenital, Compton-North |
|
Akinesia, Joint contracture of the hand, Arachnodactyly, Overlapping fingers, Camptodactyly, Poly... |
OMIM:612540 |
Spondylocamptodactyly Syndrome |
|
Camptodactyly of finger |
ORPHA:3180 |
Ophthalmomandibulomelic Dysplasia |
|
Lateral humeral condyle aplasia, Camptodactyly of finger, Synostosis of carpal bones, Micromelia,... |
ORPHA:2741 |
Autosomal Recessive Spastic Paraplegia Type 18 |
|
Hip contracture, Ankle flexion contracture, Inability to walk, Flexion contracture, Macroglossia,... |
ORPHA:209951 |
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency |
|
Hypoglycemia, Failure to thrive, Hyperkalemia, Hyponatremia |
OMIM:614736 |
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome |
|
Camptodactyly of finger, Brachydactyly, Micromelia, Ulnar deviation of finger, Gait disturbance, ... |
ORPHA:2928 |
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy |
|
Limitation of joint mobility, Camptodactyly of finger, Slender long bone, Abnormality of the wris... |
ORPHA:2774 |
Limb-Mammary Syndrome |
|
Joint contracture of the hand, Split foot, Syndactyly, Camptodactyly, Hallux valgus, Split hand |
OMIM:603543 |
Arthrogryposis, Distal, Type 4 |
|
Torticollis, Talipes equinovarus, 2-5 finger cutaneous syndactyly, Osteopenia, Camptodactyly of 2... |
OMIM:609128 |
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis |
|
Joint swelling, Osteomyelitis, Osteopenia, Fused cervical vertebrae, Osteolysis |
OMIM:612852 |
Mesomelic Dysplasia, Nievergelt Type |
|
Clinodactyly of the 5th finger, Abnormal morphology of ulna, Finger syndactyly, Camptodactyly of ... |
ORPHA:2633 |
Camptodactyly Syndrome, Guadalajara Type 2 |
|
Talipes equinovarus, Camptodactyly of finger, Short 3rd toe, Hip dislocation, Patellar hypoplasia... |
ORPHA:1326 |
Erdheim-Chester Disease |
|
Avascular necrosis, Joint swelling, Ataxia, Osteomyelitis, Increased bone mineral density, Abnorm... |
ORPHA:35687 |
Coronary Artery Disease, Autosomal Dominant 2 |
|
Glucose intolerance, Hyperlipidemia, Gout, Impaired glucose tolerance, Hypertriglyceridemia, Hype... |
OMIM:610947 |
Bethlem Myopathy |
|
Multiple joint contractures, Quadriceps muscle weakness, Scapular winging, Difficulty walking, Ac... |
ORPHA:610 |
Contractural Arachnodactyly, Congenital |
|
Hip contracture, Talipes equinovarus, Adducted thumb, Arachnodactyly, Osteopenia, Limited elbow e... |
OMIM:121050 |
Partington Syndrome |
|
Flexion contracture, Camptodactyly |
OMIM:309510 |
Myasthenic Syndrome, Congenital, 24, Presynaptic |
|
Knee flexion contracture, Camptodactyly |
OMIM:618198 |
Spondyloenchondrodysplasia With Immune Dysregulation |
|
Joint swelling, Metaphyseal irregularity, Sclerosis of skull base, Metaphyseal dysplasia, Metaphy... |
OMIM:607944 |
Desbuquois Syndrome |
|
Coxa vara, Abnormal femoral neck/head morphology, Clinodactyly of the 5th finger, Genu recurvatum... |
ORPHA:1425 |
Reactive Arthritis |
|
Joint swelling, Joint stiffness, Osteomyelitis, Cartilage destruction, Arthritis, Enthesitis |
ORPHA:29207 |
Mixed Connective Tissue Disease |
|
Avascular necrosis, Joint swelling, Joint stiffness, Xerostomia, Myositis, Arthritis, Osteolysis |
ORPHA:809 |
Developmental Delay With Variable Neurologic And Brain Abnormalities |
|
Down-sloping shoulders, Cubitus valgus, Knee flexion contracture, Camptodactyly |
OMIM:619694 |
Autoinflammation, Panniculitis, And Dermatosis Syndrome |
|
Joint swelling, Lipodystrophy, Panniculitis |
OMIM:617099 |
Arthrogryposis, Distal, Type 2A |
|
Flexion contracture of finger, Rocker bottom foot, Joint dislocation, Talipes equinovarus, Ulnar ... |
OMIM:193700 |
Dyggve-Melchior-Clausen Disease |
|
Cone-shaped epiphyses of the phalanges of the hand, Femoral bowing, Rhizomelic arm shortening, Ge... |
OMIM:223800 |
Moebius Syndrome |
|
Facial diplegia, Talipes equinovarus, Dysdiadochokinesis, Brachydactyly, Short phalanx of finger,... |
OMIM:157900 |
Terminal Osseous Dysplasia |
|
Multiple joint contractures, Short toe, Mesomelic leg shortening, Toe clinodactyly, Camptodactyly... |
OMIM:300244 |
Multiple Epiphyseal Dysplasia Type 4 |
|
Accelerated skeletal maturation, Short metacarpal, Arthralgia of the hip, Abnormal hand morpholog... |
ORPHA:93307 |
Arthrogryposis, Distal, Type 5D |
|
Talipes equinovarus, Adducted thumb, Camptodactyly, Elbow flexion contracture, Arthrogryposis mul... |
OMIM:615065 |
Frontonasal Dysplasia 1 |
|
Joint contracture of the hand, Brachydactyly, Camptodactyly, Postaxial hand polydactyly, Pectoral... |
OMIM:136760 |
Greig Cephalopolysyndactyly Syndrome |
|
Abnormal muscle fiber morphology, Joint contracture of the hand, Accelerated skeletal maturation,... |
OMIM:175700 |
Pseudodiastrophic Dysplasia |
|
Talipes equinovarus, Camptodactyly, Phalangeal dislocation, Rhizomelia, Elbow dislocation |
OMIM:264180 |
Acropectorovertebral Dysplasia |
|
Short distal phalanx of finger, Camptodactyly of finger, Synostosis of carpal bones, Triphalangea... |
ORPHA:957 |
Monosomy 22 |
|
Joint swelling, Clinodactyly of the 5th finger, Single transverse palmar crease, Contractures of ... |
ORPHA:96123 |
Summitt Syndrome |
|
Clinodactyly of the 5th finger, Craniosynostosis, Prominent metopic ridge, Camptodactyly of finge... |
ORPHA:3210 |
Catel-Manzke Syndrome |
|
Clinodactyly of the 5th finger, Talipes equinovarus, Joint dislocation, Ulnar deviation of the 2n... |
OMIM:616145 |
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A |
|
Carpal synostosis, Hip contracture, Multiple pterygia, Craniosynostosis, Camptodactyly, Elbow fle... |
OMIM:178110 |
Posterior Column Ataxia With Retinitis Pigmentosa |
|
Broad-based gait, Ataxia, Flexion contracture of finger, Joint contracture of the hand, Camptodac... |
OMIM:609033 |
Larsen-Like Syndrome, Lethal Type |
|
Multiple joint dislocation, Joint dislocation, Abnormal cartilage matrix |
OMIM:245650 |
Catifa Syndrome |
|
Gait disturbance, Inguinal hernia, Camptodactyly |
OMIM:618761 |
Fibrosis Of Extraocular Muscles, Congenital, 3A, With Or Without Extraocular Involvement |
|
Levator palpebrae superioris atrophy, Joint contracture of the hand, Camptodactyly of finger, Con... |
OMIM:600638 |
Cerebrooculofacioskeletal Syndrome 1 |
|
Joint contracture of the hand, Flexion contracture, Dehydration, Osteoporosis, Camptodactyly, Elb... |
OMIM:214150 |
Congenital Disorder Of Glycosylation, Type Ie |
|
Ataxia, Small hand, Muscular dystrophy, Upper limb undergrowth, Camptodactyly, Knee flexion contr... |
OMIM:608799 |
Camptobrachydactyly |
|
Camptodactyly of finger, Brachydactyly, Ulnar deviation of finger, Aplasia/Hypoplasia of the thum... |
ORPHA:1319 |
Systemic Sclerosis |
|
Joint swelling, Osteomyelitis, Flexion contracture, Arthritis, Osteolytic defects of the phalange... |
ORPHA:90291 |
Arthrogryposis, Distal, With Impaired Proprioception And Touch |
|
Broad-based gait, Inability to walk, Talipes equinovarus, Flexion contracture, Arachnodactyly, Lo... |
OMIM:617146 |
Carpenter Syndrome 1 |
|
Aplasia/Hypoplasia of the middle phalanges of the toes, Genu valgum, Sagittal craniosynostosis, U... |
OMIM:201000 |
Congenital Contractures Of The Limbs And Face, Hypotonia, And Developmental Delay |
|
Hip contracture, Talipes equinovarus, Inguinal hernia, Adducted thumb, Camptodactyly, Elbow flexi... |
OMIM:616266 |
Joubert Syndrome 18 |
|
Joint laxity, Polydactyly, Camptodactyly |
OMIM:614815 |
Fibrochondrogenesis 1 |
|
Widely patent coronal suture, Widely patent sagittal suture, Short palm, Clinodactyly of the 5th ... |
OMIM:228520 |
Stuve-Wiedemann Syndrome 2 |
|
Short long bone, Bowing of the long bones, Camptodactyly |
OMIM:619751 |
Multiple Pterygium Syndrome, Escobar Variant |
|
Multiple joint contractures, Weakness of facial musculature, Down-sloping shoulders, Ulnar deviat... |
OMIM:265000 |
Corticosterone Methyloxidase Type Ii Deficiency |
|
Hyponatremia, Failure to thrive, Hyperkalemia, Increased circulating renin level |
OMIM:610600 |
Schaaf-Yang Syndrome |
|
Inability to walk, Flexion contracture, Small hand, Brachydactyly, Narrow palm, Tapered finger, C... |
OMIM:615547 |
Corticosterone Methyloxidase Type I Deficiency |
|
Hyponatremia, Failure to thrive, Hyperkalemia, Increased circulating renin level |
OMIM:203400 |
Dyssegmental Dysplasia, Rolland-Desbuquois Type |
|
Advanced ossification of carpal bones, Limitation of joint mobility, Joint contracture of the han... |
OMIM:224400 |
Cousin Syndrome |
|
Dislocated radial head, Clinodactyly of the 5th finger, Talipes equinovarus, Joint contracture of... |
OMIM:260660 |
Pallister W Syndrome |
|
Radial bowing, Joint contracture of the hand, Camptodactyly, Hypoplasia of the ulna, Cubitus valg... |
OMIM:311450 |
Uruguay Faciocardiomusculoskeletal Syndrome |
|
Joint contracture of the hand, Skeletal muscle hypertrophy, Camptodactyly of toe, Congenital hip ... |
OMIM:300280 |
Atelosteogenesis Type Ii |
|
Broad phalanx, Micromelia, Rhizomelic arm shortening, Upper limb undergrowth, Dumbbell-shaped fem... |
ORPHA:56304 |
Chikungunya |
|
Joint swelling, Joint stiffness, Facial edema, Ankle joint effusion, Arthritis, Pedal edema, Oste... |
ORPHA:324625 |
Spinocerebellar Ataxia, Autosomal Recessive 20 |
|
Ataxia, Inability to walk, Talipes equinovarus, Macroglossia, Brachydactyly, Camptodactyly, Clino... |
OMIM:616354 |
Imagawa-Matsumoto Syndrome |
|
Accelerated skeletal maturation, Camptodactyly, Large hands, Clinodactyly, Umbilical hernia |
OMIM:618786 |
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy |
|
Overlapping toe, Arthrogryposis multiplex congenita, Camptodactyly |
OMIM:614262 |
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly |
|
Femoral bowing, Broad hallux, Genu valgum, Rhizomelia, Short long bone, Metaphyseal irregularity,... |
OMIM:618019 |
W Syndrome |
|
Radial bowing, Camptodactyly, Hypoplasia of the ulna, Cubitus valgus, Clinodactyly, Metatarsus ad... |
ORPHA:2804 |
Hypoadrenocorticism, Familial |
|
Hypoglycemia, Hyperkalemia, Hyponatremia |
OMIM:240200 |
Arthrogryposis, Distal, Type 2B1 |
|
Talipes equinovarus, Camptodactyly of finger, Ulnar deviation of the wrist, Ulnar deviation of th... |
OMIM:601680 |
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome |
|
Tapered finger, Camptodactyly, Single transverse palmar crease, Knee flexion contracture, Ankle f... |
ORPHA:435938 |
Warburg-Cinotti Syndrome |
|
Joint swelling, Flexion contracture of finger, Wrist flexion contracture, Osteolytic defects of t... |
OMIM:618175 |
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome |
|
Short distal phalanx of finger, Short toe, Joint dislocation, Camptodactyly of finger, Tapered fi... |
ORPHA:3201 |
Arthrogryposis, Distal, Type 3 |
|
Overlapping toe, Decreased hip abduction, Talipes equinovarus, Camptodactyly of toe, Camptodactyl... |
OMIM:114300 |
Crisponi/Cold-Induced Sweating Syndrome 1 |
|
Talipes equinovarus, Adducted thumb, Facial palsy, Tapered finger, Limited elbow extension, Campt... |
OMIM:272430 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 2 |
|
Lymphedema, Syndactyly, Osteoporosis, Camptodactyly |
OMIM:616006 |
Multicentric Osteolysis, Nodulosis, And Arthropathy |
|
Osteopenia, C1-C2 subluxation, Thin metacarpal cortices, Delayed closure of the anterior fontanel... |
OMIM:259600 |
Cerebrooculofacioskeletal Syndrome 4 |
|
Dislocated radial head, Adducted thumb, Camptodactyly of finger, Flared metaphysis, Steep acetabu... |
OMIM:610758 |
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome |
|
Ataxia, Osteomyelitis, Flexion contracture of finger, Camptodactyly, Gait disturbance, Gait ataxia |
ORPHA:88628 |
Pseudohypoaldosteronism, Type I, Autosomal Dominant |
|
Hyponatremia, Failure to thrive, Hyperkalemia, Increased circulating renin level |
OMIM:177735 |
Stuve-Wiedemann Syndrome 1 |
|
Enlarged joints, Femoral bowing, Ulnar deviation of finger, Single transverse palmar crease, Cont... |
OMIM:601559 |
Late-Onset Familial Hypoaldosteronism |
|
Hyponatremia, Failure to thrive, Hyperkalemia, Increased circulating renin level |
ORPHA:556037 |
Pseudohypoaldosteronism, Type I, Autosomal Recessive |
|
Failure to thrive, Hyperkalemia, Hyponatremia |
OMIM:264350 |
Classical Ehlers-Danlos Syndrome |
|
Joint swelling, Dislocated radial head, Uterine prolapse, Hiatus hernia, Talipes equinovarus, Ing... |
ORPHA:287 |
Early-Onset Familial Hypoaldosteronism |
|
Hyponatremia, Failure to thrive, Hyperkalemia, Increased circulating renin level |
ORPHA:556030 |
Weaver Syndrome |
|
Accelerated skeletal maturation, Prominent fingertip pads, Short fourth metatarsal, Single transv... |
OMIM:277590 |
Malignant Hyperthermia, Susceptibility To, 2 |
|
Elevated circulating creatine kinase concentration, Hyperphosphatemia, Hyperkalemia |
OMIM:154275 |
Wieacker-Wolff Syndrome |
|
Talipes equinovarus, Congenital foot contractures, Palmar hyperkeratosis, Distal amyotrophy, Camp... |
OMIM:314580 |
Idiopathic Hypereosinophilic Syndrome |
|
Joint swelling, Swelling of proximal interphalangeal joints, Arthritis, Angioedema, Ankle swellin... |
ORPHA:3260 |
Split-Hand/Foot Malformation 3 |
|
Split hand, Camptodactyly |
OMIM:246560 |
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis |
|
Wide anterior fontanel, Flexion contracture, Coronal craniosynostosis, Femoral bowing, Arachnodac... |
OMIM:207410 |
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion |
|
Diastasis recti, Overlapping toe, Flexion contracture of finger, Flexion contracture, Macroglossi... |
ORPHA:254528 |
Malignant Hyperthermia, Susceptibility To, 3 |
|
Elevated circulating creatine kinase concentration, Hyperphosphatemia, Hyperkalemia |
OMIM:154276 |
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects |
|
Ataxia, Inability to walk, Hyperkalemia |
OMIM:608885 |
Generalized Pseudohypoaldosteronism Type 1 |
|
Hyperkalemia, Increased circulating renin level, Hyponatremia, Weight loss, Failure to thrive in ... |
ORPHA:171876 |
Schwartz-Jampel Syndrome, Type 1 |
|
Quadriceps muscle weakness, Congenital hip dislocation, Micromelia, Umbilical hernia, Anterior bo... |
OMIM:255800 |
Acromegaly |
|
Joint swelling, Macroglossia, Cortical diaphyseal thickening of the upper limbs, Deep palmar crea... |
ORPHA:963 |
Somatomammotropinoma |
|
Joint swelling, Macroglossia, Cortical diaphyseal thickening of the upper limbs, Deep palmar crea... |
ORPHA:314769 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Reduced subcutaneous adipose tissue, Short distal phalanx of finger, Joint stiffness, Increased a... |
OMIM:248370 |
Urban-Rogers-Meyer Syndrome |
|
Recurrent fractures, Clinodactyly of the 5th finger, Camptodactyly of finger, Brachydactyly, Oste... |
ORPHA:3409 |
Robinow Syndrome, Autosomal Recessive 2 |
|
Brachydactyly, Camptodactyly, Mesomelia, Ventral hernia, Broad thumb, Clinodactyly, Omphalocele |
OMIM:618529 |
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak |
|
Hyperkalemia |
OMIM:609153 |
Fibrosclerosis, Multifocal |
|
Camptodactyly of finger, Joint contracture of the hand |
OMIM:228800 |
Familial Hypoaldosteronism |
|
Failure to thrive, Increased circulating renin level, Hyponatremia, Hyperkalemia, Lethargy |
ORPHA:427 |
Hyperkalemic Periodic Paralysis |
|
Hypokalemia, Elevated circulating creatine kinase concentration, Gait disturbance, Hyponatremia, ... |
ORPHA:682 |
Oculocerebrorenal Syndrome Of Lowe |
|
Joint swelling, Joint stiffness, Recurrent fractures, Inguinal hernia, Abnormal metaphysis morpho... |
ORPHA:534 |
Camptobrachydactyly |
|
Short toe, Syndactyly, Brachydactyly, Congenital finger flexion contractures, Hand polydactyly |
OMIM:114150 |
Peroxisome Biogenesis Disorder 2A (Zellweger) |
|
Talipes equinovarus, Joint contracture of the hand, Stippled chondral calcification, Palpebral ed... |
OMIM:214110 |
Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Talipes equinovarus, Stippled chondral calcification, Palpebral edema, Camptodactyly, Single tran... |
OMIM:614866 |
Recombinant Chromosome 8 Syndrome |
|
Clinodactyly of the 5th finger, Joint contracture of the hand, Camptodactyly |
OMIM:179613 |
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb |
|
Brachydactyly, Clinodactyly, Camptodactyly |
OMIM:613604 |
Alg8-Cdg |
|
Ataxia, Talipes equinovarus, Macroglossia, Hydrops fetalis, Brachydactyly, Camptodactyly, Edema, ... |
ORPHA:79325 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Reduced subcutaneous adipose tissue, Slender finger, Falls, Tapered finger, Single transverse pal... |
OMIM:619503 |
Birk-Landau-Perez Syndrome |
|
Limb ataxia, Failure to thrive in infancy, Difficulty walking, Choreoathetosis, Increased circula... |
OMIM:617595 |
Ehlers-Danlos Syndrome, Musculocontractural Type, 2 |
|
Talipes equinovarus, Inguinal hernia, Adducted thumb, Arachnodactyly, Camptodactyly, Facial hypot... |
OMIM:615539 |
Hyperkalemic Periodic Paralysis |
|
Hyperkalemia |
OMIM:170500 |
Malignant Hyperthermia, Susceptibility To, 1 |
|
Elevated circulating creatine kinase concentration, Hyperphosphatemia, Hyperkalemia |
OMIM:145600 |
Alkuraya-Kucinskas Syndrome |
|
Overlapping toe, Talipes equinovarus, Adducted thumb, Cutaneous syndactyly, Overlapping fingers, ... |
OMIM:617822 |
Hemangioma-Thrombocytopenia Syndrome |
|
Hyperkalemia |
OMIM:141000 |
Arthrogryposis Multiplex Congenita 5 |
|
Akinesia, Talipes equinovarus, Flexion contracture, Inguinal hernia, Adducted thumb, Limitation o... |
OMIM:618947 |
Stevenson-Carey Syndrome |
|
Hip dysplasia, Joint contracture of the hand, Camptodactyly |
OMIM:611961 |
Sandestig-Stefanova Syndrome |
|
Prominent metopic ridge, Bilateral single transverse palmar creases, Camptodactyly, Clinodactyly,... |
OMIM:618804 |
Ritscher-Schinzel Syndrome 2 |
|
Short distal phalanx of finger, Overlapping toe, Syndactyly, Camptodactyly, Broad hallux, Clinoda... |
OMIM:300963 |
Myoglobinuria, Acute Recurrent, Autosomal Recessive |
|
Elevated circulating creatine kinase concentration, Hyperkalemia |
OMIM:268200 |
Blau Syndrome |
|
Joint swelling, Limitation of joint mobility, Camptodactyly of finger, Xerostomia, Polyarticular ... |
ORPHA:90340 |
Marden-Walker Syndrome |
|
Wide anterior fontanel, Talipes equinovarus, Joint contracture of the hand, Inguinal hernia, Arac... |
OMIM:248700 |
Cholestasis With Gallstone, Ataxia, And Visual Disturbance |
|
Camptodactyly of finger, Ataxia |
OMIM:214980 |
Pseudohypoaldosteronism, Type Iia |
|
Hyperkalemia |
OMIM:145260 |
Congenital Disorder Of Glycosylation, Type Iig |
|
Talipes equinovarus, Small hand, Osteopenia, Left ventricular hypertrophy, Camptodactyly, Rhizome... |
OMIM:611209 |
Bohring-Opitz Syndrome |
|
Dislocated radial head, Short toe, Overlapping toe, Joint dislocation, Flexion contracture, Deep ... |
OMIM:605039 |
Meier-Gorlin Syndrome 1 |
|
Absent glenoid fossa, Genu valgum, Delayed skeletal maturation, Absent sternal ossification, Elbo... |
OMIM:224690 |
Dpm1-Cdg |
|
Long hallux, Ataxia, Muscular dystrophy, Camptodactyly, Limb undergrowth, Sandal gap, Knee flexio... |
ORPHA:79322 |
Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis |
|
Talipes equinovarus, Camptodactyly |
OMIM:617333 |
Mandibulofacial Dysostosis With Ptosis, Autosomal Dominant |
|
Joint contracture of the hand, Camptodactyly |
OMIM:608257 |
Pseudohypoaldosteronism Type 2 |
|
Hyperkalemia |
ORPHA:757 |
Geroderma Osteodysplasticum |
|
Recurrent fractures, Tibial bowing, Hyperextensibility of the finger joints, Osteopenia, Femoral ... |
OMIM:231070 |
Mucolipidosis Ii Alpha/Beta |
|
Craniosynostosis, Osteopenia, Bullet-shaped phalanges of the hand, Varus deformity of humeral nec... |
OMIM:252500 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Talipes equinovarus, Joint contracture of the hand, Coronal craniosynostosis, Small hand, Bilater... |
OMIM:235510 |
Meester-Loeys Syndrome |
|
Joint dislocation, Joint hypermobility, Flexion contracture, Camptodactyly |
OMIM:300989 |
Meckel Syndrome, Type 10 |
|
Ulnar deviation of the hand, Postaxial polydactyly, Camptodactyly, Postaxial hand polydactyly, Po... |
OMIM:614175 |
Genetic Recurrent Myoglobinuria |
|
Hypocalcemia, Difficulty walking, Hyperphosphatemia, Highly elevated creatine kinase, Hyperkalemia |
ORPHA:99845 |
Familial Glucocorticoid Deficiency |
|
Failure to thrive, Ketotic hypoglycemia, Hypoglycemic seizures, Hyponatremia, Weight loss, Hyperk... |
ORPHA:361 |
Intellectual Disability-Coarse Face-Macrocephaly-Cerebellar Hypotrophy Syndrome |
|
Broad-based gait, Ataxia, Talipes equinovarus, Macroglossia, Palpebral edema, Brachydactyly, Camp... |
ORPHA:397709 |
Camptodactyly Syndrome, Guadalajara, Type Iii |
|
Torticollis, Joint contracture of the hand, Absent phalangeal crease, Small thenar eminence, Spin... |
OMIM:611929 |
Cerebellar Ataxia, Brain Abnormalities, And Cardiac Conduction Defects |
|
Ataxia, Inability to walk, Dysmetria, Tapered finger, Camptodactyly, Clinodactyly |
OMIM:619576 |
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency |
|
Ataxia, Macroglossia, Arthrogryposis-like hand anomaly, Abnormality of the hand, Syndactyly, Camp... |
ORPHA:369891 |
Pseudohypoaldosteronism, Type Iib |
|
Hyperchloremia, Hyperkalemia |
OMIM:614491 |
Pseudohypoaldosteronism, Type Iid |
|
Hyperchloremia, Hyperkalemia |
OMIM:614495 |
Hunter-Macdonald Syndrome |
|
Epiphyseal dysplasia, Clinodactyly of the 5th finger, 2-3 toe syndactyly, Joint contracture of th... |
OMIM:611962 |
13Q12.3 Microdeletion Syndrome |
|
Congenital diaphragmatic hernia, Upper eyelid edema, Camptodactyly, Hemihypotrophy of lower limb,... |
ORPHA:412035 |
Shprintzen-Goldberg Craniosynostosis Syndrome |
|
Dislocated radial head, Wide anterior fontanel, Genu recurvatum, Joint contracture of the hand, T... |
OMIM:182212 |
Pituitary Adenoma 4, Acth-Secreting |
|
Abdominal obesity, Glucose intolerance, Abnormal fear/anxiety-related behavior, Hypokalemia, Impa... |
OMIM:219090 |
Meier-Gorlin Syndrome 2 |
|
Tracheomalacia, Slender long bone, Camptodactyly, Patellar aplasia, Joint hypermobility, Delayed ... |
OMIM:613800 |
Congenital Disorder Of Glycosylation, Type Ih |
|
Talipes equinovarus, Camptodactyly, Edema, Oligohydramnios, Ascites |
OMIM:608104 |
Rahman Syndrome |
|
Talipes equinovarus, Accelerated skeletal maturation, Camptodactyly |
OMIM:617537 |
Brittle Cornea Syndrome |
|
Corneal scarring, Arachnodactyly, Osteoporosis, Camptodactyly, Gait disturbance, Abnormal epiphys... |
ORPHA:90354 |
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2 |
|
Hypomagnesemia, Hypokalemia, Self-biting |
OMIM:618314 |
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Elbow ankylosis, Craniosynostosis, Femoral bowing, Radioulnar synostosis, Bowing of the long bone... |
ORPHA:95699 |
Adrenocortical Carcinoma |
|
Hypokalemia, Anxiety, Panic attack, Diabetes mellitus, Increased body weight, Weight loss, Irrita... |
ORPHA:1501 |
Pseudohypoaldosteronism, Type Iic |
|
Hyperchloremia, Hyperkalemia |
OMIM:614492 |
Pseudohypoaldosteronism, Type Iie |
|
Hyperchloremia, Hyperkalemia |
OMIM:614496 |
Autoimmune Disease, Multisystem, With Facial Dysmorphism |
|
Limited elbow extension, Slender long bone, Single transverse palmar crease, Camptodactyly, Hallu... |
OMIM:613385 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1 |
|
Camptodactyly, Flexion contracture, Rocker bottom foot |
OMIM:604273 |
Basilicata-Akhtar Syndrome |
|
Adducted thumb, Camptodactyly, Single transverse palmar crease, Short foot, Short palm |
OMIM:301032 |
Thyrotoxic Periodic Paralysis |
|
Postprandial hyperglycemia, Hypomagnesemia, Episodic hypokalemia, Mildly elevated creatine kinase... |
ORPHA:79102 |
Braddock-Carey Syndrome 1 |
|
Talipes equinovarus, Small hand, Camptodactyly, Enamel hypoplasia, Clinodactyly |
OMIM:619980 |
Mirage Syndrome |
|
Hypoglycemia, Decreased body weight, Hyperkalemia, Hyponatremia |
OMIM:617053 |
Glutamine Deficiency, Congenital |
|
Micromelia, Flexion contracture, Camptodactyly |
OMIM:610015 |
Neuroleptic Malignant Syndrome |
|
Hypomagnesemia, Hypocalcemia, Anxiety, Elevated circulating creatine kinase concentration, Hypern... |
ORPHA:94093 |
Chromosome 2P16.1-P15 Deletion Syndrome |
|
Joint contracture of the hand, Arachnodactyly, Camptodactyly, Metatarsus adductus, Calcaneovalgus... |
OMIM:612513 |
Acute Adrenal Insufficiency |
|
Failure to thrive, Increased circulating renin level, Hypoglycemia, Hyponatremia, Hyperuricemia, ... |
ORPHA:95409 |
Opitz-Kaveggia Syndrome |
|
Multiple joint contractures, Wide anterior fontanel, Joint contracture of the hand, Prominent fin... |
OMIM:305450 |
Mody |
|
Glucose intolerance, Hypoinsulinemia, Hyperinsulinemic hypoglycemia, Abnormal C-peptide level, El... |
ORPHA:552 |
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome |
|
Inguinal hernia, Small hand, Bilateral single transverse palmar creases, Camptodactyly, Sagittal ... |
ORPHA:459061 |
Nablus Mask-Like Facial Syndrome |
|
Joint contracture of the hand, Craniosynostosis, Tapered finger, Camptodactyly, Clinodactyly |
OMIM:608156 |
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Failure to thrive, Hypokalemia, Lethargy |
OMIM:611590 |
Chromosome 13Q33-Q34 Deletion Syndrome |
|
Overlapping toe, Talipes equinovarus, Distally placed thumb, Small thenar eminence, Prominent met... |
OMIM:619148 |
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency |
|
Hypoglycemia, Failure to thrive, Hyperkalemia, Hyponatremia |
ORPHA:90790 |
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Failure to thrive, Increased circulating renin level, Hyponatremia, Neonatal hypoglycemia, Hyperk... |
ORPHA:90791 |
Glycogen Storage Disease Due To Aldolase A Deficiency |
|
Elevated creatine kinase after exercise, Hyperkalemia |
ORPHA:57 |
Cystinosis |
|
Failure to thrive, Hypophosphatemia, Hypokalemia, Gait disturbance, Type I diabetes mellitus |
ORPHA:213 |
Apparent Mineralocorticoid Excess |
|
Decreased circulating renin level, Hypokalemia, Failure to thrive, Small for gestational age |
OMIM:218030 |
Orofaciodigital Syndrome Ix |
|
Hand polydactyly, Short tibia, Camptodactyly, Toe syndactyly |
OMIM:258865 |
Nephronophthisis 2 |
|
Elevated circulating creatinine concentration, Hyperkalemia |
OMIM:602088 |
Glass Syndrome |
|
Broad-based gait, Talipes equinovarus, Inguinal hernia, Arachnodactyly, Camptodactyly |
OMIM:612313 |
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Mental Retardation, And Ear Anomalies Syndrome |
|
Broad-based gait, Clinodactyly of the 5th finger, Joint contracture of the hand, Broad 2nd toe, P... |
OMIM:280000 |
Osteopathia Striata With Cranial Sclerosis |
|
Sclerosis of skull base, Clinodactyly of the 5th finger, Talipes equinovarus, Joint contracture o... |
OMIM:300373 |
Frank-Ter Haar Syndrome |
|
Wide anterior fontanel, Talipes equinovarus, Bilateral talipes equinovarus, Delayed cranial sutur... |
OMIM:249420 |
Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Flexion contracture of finger, Camptodactyly of finger, Joint contracture of the 5th finger, Camp... |
OMIM:602782 |
Hyperaldosteronism, Familial, Type Ii |
|
Hypokalemia |
OMIM:605635 |
Arthrogryposis And Ectodermal Dysplasia |
|
Joint contracture of the hand, Camptodactyly, Arthrogryposis multiplex congenita, Atypical scarri... |
OMIM:601701 |
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations |
|
Hypoplasia of the capital femoral epiphysis, Hypoplasia of the ulna, Genu valgum, Rhizomelia, Gen... |
OMIM:143095 |
Galloway-Mowat Syndrome 3 |
|
Hiatus hernia, Arachnodactyly, Camptodactyly, Edema, Hip dislocation, Oligohydramnios |
OMIM:617729 |
Myhre Syndrome |
|
Joint stiffness, Ataxia, Generalized muscle hypertrophy, Limitation of joint mobility, Overlappin... |
OMIM:139210 |
Camptodactyly, Tall Stature, And Hearing Loss Syndrome |
|
Arachnodactyly, Camptodactyly of toe, Broad femoral metaphyses, Joint contracture of the hand |
OMIM:610474 |
Van Den Ende-Gupta Syndrome |
|
Craniosynostosis, Femoral bowing, Tapered finger, Glenoid fossa hypoplasia, Long metacarpals, Lon... |
OMIM:600920 |
Faciodigitogenital Syndrome, Autosomal Recessive |
|
Clinodactyly of the 5th finger, Inguinal hernia, Down-sloping shoulders, Syndactyly, Broad palm, ... |
OMIM:227330 |
Addison Disease |
|
Failure to thrive, Increased circulating renin level, Hypoglycemia, Type I diabetes mellitus, Hyp... |
ORPHA:85138 |
Alg12-Cdg |
|
Clinodactyly of the 5th finger, Talipes equinovarus, Abnormal bone ossification, Abnormal adipose... |
ORPHA:79324 |
Lysosomal Acid Lipase Deficiency |
|
Failure to thrive, Cognitive impairment, Cachexia, Hypertriglyceridemia, Psychomotor deterioratio... |
ORPHA:275761 |
Immunodeficiency 82 With Systemic Inflammation |
|
Joint swelling, Osteomyelitis, Osteomalacia, Arthritis |
OMIM:619381 |
Robinow Syndrome, Autosomal Dominant 2 |
|
Short distal phalanx of finger, Partial duplication of thumb phalanx, Brachydactyly, Partial dupl... |
OMIM:616331 |
Ethylene Glycol Poisoning |
|
Ataxia, Hypocalcemia, Euphoria, Hyperkalemia |
ORPHA:31826 |
Cholera |
|
Hypokalemia, Hypocalcemia, Hypoglycemia, Abnormal blood ion concentration, Hyponatremia, Lethargy... |
ORPHA:173 |
Hypokalemic Periodic Paralysis, Type 2 |
|
Hypokalemia |
OMIM:613345 |
Cerebrofacioarticular Syndrome |
|
Ataxia, Talipes equinovarus, Tracheomalacia, Osteopenia, Syndactyly, Camptodactyly, Caudal append... |
ORPHA:314679 |
Native American Myopathy |
|
Inability to walk, Talipes equinovarus, Muscle fiber atrophy, Abnormality of skeletal muscle fibe... |
ORPHA:168572 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type |
|
Arachnodactyly, Talipes equinovarus, Joint laxity, Camptodactyly |
OMIM:301039 |
Takenouchi-Kosaki Syndrome |
|
Overlapping toe, Ataxia, Inguinal hernia, Tapered finger, Camptodactyly, Lymphedema, Clinodactyly... |
OMIM:616737 |
Ollier Disease |
|
Multiple enchondromatosis, Abnormal cartilage morphology |
ORPHA:296 |
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss |
|
Failure to thrive, Hypokalemia |
OMIM:602722 |
Miller-Dieker Lissencephaly Syndrome |
|
Clinodactyly of the 5th finger, Joint contracture of the hand, Inguinal hernia, Deep palmar creas... |
OMIM:247200 |
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder |
|
Spina bifida occulta, Camptodactyly, Polyhydramnios, Clinodactyly, Joint hypermobility |
OMIM:617360 |
Sarcoidosis |
|
Joint swelling, Chylothorax, Pleural effusion, Scarring, Facial palsy |
ORPHA:797 |
Distal Tetrasomy 15Q |
|
Flexion contracture, Craniosynostosis, Arachnodactyly, Camptodactyly, Hernia |
ORPHA:314588 |
Liddle Syndrome 3 |
|
Hypokalemia |
OMIM:618126 |
Duane Retraction Syndrome |
|
Aplasia/Hypoplasia of the thumb, Talipes equinovarus, Abnormal vertebral segmentation and fusion,... |
ORPHA:233 |
Cohen-Gibson Syndrome |
|
Accelerated skeletal maturation, Flexion contracture, Osteopenia, Flared metaphysis, Long fingers... |
OMIM:617561 |
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Flexion contracture of thumb, Absent glenoid fossa, Clinodactyly of the 3rd finger, Short 1st met... |
ORPHA:96334 |
Hypocalcemia, Autosomal Dominant 1 |
|
Hypomagnesemia, Hypokalemia, Hypocalcemia, Increased circulating renin level, Hyperphosphatemia |
OMIM:601198 |
Fanconi-Bickel Syndrome |
|
Failure to thrive, Hypophosphatemia, Hypokalemia, Glycosuria, Hypouricemia |
OMIM:227810 |
Galloway-Mowat Syndrome 1 |
|
Ataxia, Hiatus hernia, Joint contracture of the hand, Slender finger, Talipes equinovarus, Campto... |
OMIM:251300 |
Hypomagnesemia 2, Renal |
|
Chondrocalcinosis, Hypomagnesemia, Hypokalemia |
OMIM:154020 |
Hypokalemic Periodic Paralysis |
|
Postprandial hyperglycemia, Episodic hypokalemia, Mildly elevated creatine kinase |
ORPHA:681 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 1 |
|
Weight loss, Hypokalemia |
OMIM:188580 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 2 |
|
Weight loss, Hypokalemia |
OMIM:613239 |
Aymé-Gripp Syndrome |
|
Clinodactyly of the 5th finger, Limitation of joint mobility, Congenital diaphragmatic hernia, In... |
ORPHA:1272 |
Cutis Laxa, Autosomal Recessive, Type Iid |
|
Hip dislocation, Talipes equinovarus, Inguinal hernia, Camptodactyly |
OMIM:617403 |
Hypokalemic Alkalosis, Familial, With Specific Renal Tubulopathy |
|
Increased serum prostaglandin E2, Hypokalemia, Abnormal magnesium concentration, Increased circul... |
OMIM:241150 |
Frontometaphyseal Dysplasia 2 |
|
Dislocated radial head, Hip contracture, Ulnar deviation of the hand, Talipes equinovarus, Short ... |
OMIM:617137 |
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Failure to thrive, Increased circulating renin level, Abnormal circulating cholesterol concentrat... |
ORPHA:168558 |
Familial Pseudohyperkalemia |
|
Hyperkalemia |
ORPHA:90044 |
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Failure to thrive, Increased circulating renin level, Abnormal circulating cholesterol concentrat... |
ORPHA:289548 |
East Syndrome |
|
Hypomagnesemia, Hypokalemia, Inability to walk, Ataxia, Increased circulating renin level, Diffic... |
ORPHA:199343 |
Polymicrogyria With Or Without Vascular-Type Ehlers-Danlos Syndrome |
|
Talipes equinovarus, Slender finger, Long fingers, Camptodactyly, Atrophic scars |
OMIM:618343 |
Congenital Heart Defects And Skeletal Malformations Syndrome |
|
Arachnodactyly, Finger clinodactyly, Congenital diaphragmatic hernia, Camptodactyly |
OMIM:617602 |
21Q22.11Q22.12 Microdeletion Syndrome |
|
Short proximal phalanx of the 5th finger, Cone-shaped epiphyses of the phalanges of the hand, Sho... |
ORPHA:261323 |
Trisomy 10P |
|
Flexion contracture of thumb, Short toe, Talipes equinovarus, Decreased muscle mass, Abnormality ... |
ORPHA:171929 |
Liddle Syndrome |
|
Hypokalemia |
ORPHA:526 |
X-Linked Intellectual Disability, Snyder Type |
|
Recurrent fractures, Inability to walk, Arachnodactyly, Osteoporosis, Camptodactyly, Slender toe,... |
ORPHA:3063 |
Fanconi Renotubular Syndrome 1 |
|
Hypophosphatemia, Glycosuria, Hypokalemia |
OMIM:134600 |
Neu-Laxova Syndrome 1 |
|
Yellow subcutaneous tissue covered by thin, scaly skin, Joint contracture of the hand, Generalize... |
OMIM:256520 |
Diarrhea 1, Secretory Chloride, Congenital |
|
Failure to thrive, Hypokalemia, Hypochloremia, Hyponatremia |
OMIM:214700 |
Hypokalemic Periodic Paralysis, Type 1 |
|
Hypokalemia |
OMIM:170400 |
Malignant Hyperthermia Of Anesthesia |
|
Elevated creatine kinase after exercise, Hyperphosphatemia, Hyperkalemia |
ORPHA:423 |
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Cachexia, Hypomagnesemia, Hypokalemia, Hypocalcemia |
OMIM:175500 |
Infection-Related Hemolytic Uremic Syndrome |
|
Hypocalcemia, Hyponatremia, Diabetes mellitus, Hyperkalemia, Septic arthritis |
ORPHA:544482 |
H Syndrome |
|
Recurrent fractures, Upper eyelid edema, Camptodactyly, Lipodystrophy, Osteolysis, Hallux valgus,... |
ORPHA:168569 |
Renal Tubular Acidosis, Distal, 1 |
|
Elevated circulating creatinine concentration, Hypokalemia, Hypocalcemia |
OMIM:179800 |
Teebi-Shaltout Syndrome |
|
Ulnar deviation of the hand, Talipes equinovarus, Syndactyly, Camptodactyly, Single transverse pa... |
OMIM:272950 |
Marfan Syndrome |
|
Reduced subcutaneous adipose tissue, Genu recurvatum, Joint hypermobility, Flexion contracture, E... |
OMIM:154700 |
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Mental Retardation |
|
Hypokalemia, Hyperamylasemia |
OMIM:604278 |
Primary Hypomagnesemia-Refractory Seizures-Intellectual Disability Syndrome |
|
Hypomagnesemia, Episodic hypokalemia |
ORPHA:564178 |
Exercise-Induced Malignant Hyperthermia |
|
Ataxia, Hypocalcemia, Elevated circulating creatine kinase concentration, Hyperphosphatemia, Hype... |
ORPHA:466650 |
Cardiofacioneurodevelopmental Syndrome |
|
Clinodactyly of the 5th finger, Brachydactyly, Camptodactyly |
OMIM:619123 |
Bartter Syndrome Type 4 |
|
Failure to thrive, Hypomagnesemia, Hypokalemia, Severe failure to thrive, Small for gestational a... |
ORPHA:89938 |
Brachycephaly, Deafness, Cataract, Microstomia, And Mental Retardation |
|
Brachydactyly, Finger clinodactyly, Tapered finger, Camptodactyly, Rocker bottom foot |
OMIM:601353 |
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome |
|
Overlapping toe, Camptodactyly |
ORPHA:363444 |
Chromosome 8Q21.11 Deletion Syndrome |
|
Absent palmar crease, Syndactyly, Short metacarpal, Camptodactyly |
OMIM:614230 |
Infantile Nephropathic Cystinosis |
|
Failure to thrive, Hypophosphatemia, Hypokalemia, Cognitive impairment, Glycosuria, Abnormal bloo... |
ORPHA:411629 |
Robinow Syndrome, Autosomal Dominant 3 |
|
Brachydactyly, Short phalanx of finger, Syndactyly, Camptodactyly, Mesomelia, Broad thumb, Clinod... |
OMIM:616894 |
Dpagt1-Cdg |
|
Akinesia, Ataxia, Inability to walk, Flexion contracture, Arachnodactyly, Osteoporosis, Camptodac... |
ORPHA:86309 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type |
|
Overlapping toe, Flexion contracture, Craniosynostosis, Small hand, Brachydactyly, Tapered finger... |
OMIM:309590 |
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects |
|
Congenital diaphragmatic hernia, Small hand, Contracture of the proximal interphalangeal joint of... |
OMIM:301044 |
Gitelman Syndrome |
|
Failure to thrive, Hypomagnesemia, Hypokalemia, Ataxia, Chondrocalcinosis, Increased circulating ... |
OMIM:263800 |
Fryns Syndrome |
|
Short distal phalanx of finger, Chylothorax, Joint contracture of the hand, Prominent fingertip p... |
OMIM:229850 |
Hemorrhagic Fever-Renal Syndrome |
|
Decreased body weight, Elevated circulating creatinine concentration, Hyperphosphatemia, Hyperkal... |
ORPHA:340 |
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome |
|
Long hallux, Tibial bowing, Talipes equinovarus, Macroglossia, Inguinal hernia, Spina bifida occu... |
ORPHA:500095 |
Bartter Syndrome, Type 5, Antenatal, Transient |
|
Hyponatremia, Hypokalemia, Hypochloremia, Increased circulating renin level |
OMIM:300971 |
Normosmic Congenital Hypogonadotropic Hypogonadism |
|
Generalized joint laxity, Osteopenia, Osteoporosis, Camptodactyly, Delayed skeletal maturation |
ORPHA:432 |
Hepatocellular Carcinoma |
|
Hypokalemia, Type II diabetes mellitus, Hyperbilirubinemia, Hypoglycemia, Hypoalbuminemia, Hypona... |
ORPHA:88673 |
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome |
|
Overlapping toe, Flexion contracture, Inguinal hernia, Tapered finger, Camptodactyly, Lymphedema,... |
ORPHA:487796 |
Ayme-Gripp Syndrome |
|
Delayed cranial suture closure, Brachydactyly, Tapered finger, Camptodactyly, Radioulnar synostosis |
OMIM:601088 |
Gitelman Syndrome |
|
Glucose intolerance, Hypomagnesemia, Hypokalemia, Hypocalcemia, Type II diabetes mellitus, Failur... |
ORPHA:358 |
Rabson-Mendenhall Syndrome |
|
Postprandial hyperglycemia, Hypokalemia, Insulin resistance, Diabetic ketoacidosis, Increased C-p... |
ORPHA:769 |
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis |
|
Carpal synostosis, Joint contracture of the hand, Craniosynostosis, Arachnodactyly, Femoral bowin... |
OMIM:201750 |
Diabetes Insipidus, Neurohypophyseal, X-Linked |
|
Hypokalemia |
OMIM:304900 |
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Failure to thrive, Hyponatremia, Neonatal hypoglycemia, Weight loss, Hypochloremia, Hyperkalemia |
ORPHA:90794 |
Loeys-Dietz Syndrome 2 |
|
Talipes equinovarus, Joint contracture of the hand, Inguinal hernia, Craniosynostosis, Postaxial ... |
OMIM:610168 |
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness |
|
Failure to thrive, Hypokalemia, Hyponatremia, Hypochloremia, Hyperchloriduria |
OMIM:613090 |
Schinzel-Giedion Syndrome |
|
Short distal phalanx of finger, Overlapping toe, Tibial bowing, Sclerosis of skull base, Wide ant... |
ORPHA:798 |
Carpenter Syndrome 2 |
|
Coxa vara, Bilateral postaxial polydactyly, Clinodactyly of the 5th finger, Talipes equinovarus, ... |
OMIM:614976 |
3Q29 Microduplication Syndrome |
|
Camptodactyly of toe, Sandal gap, Toe syndactyly, Craniosynostosis |
ORPHA:251038 |
Lethal Acantholytic Erosive Disorder |
|
Clinodactyly of the 5th finger, Camptodactyly of toe, 2-3 finger syndactyly, 4-5 finger syndactyl... |
ORPHA:158687 |
Juvenile Nephropathic Cystinosis |
|
Failure to thrive, Hypophosphatemia, Hypokalemia, Hypocalcemia, Glycosuria, Hypocalcemic tetany, ... |
ORPHA:411634 |
Liddle Syndrome 2 |
|
Decreased circulating renin level, Hypokalemia |
OMIM:618114 |
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency |
|
Clinodactyly, Camptodactyly |
ORPHA:228426 |
Apparent Mineralocorticoid Excess |
|
Decreased circulating renin level, Hypokalemia, Failure to thrive |
ORPHA:320 |
Cystinosis, Nephropathic |
|
Hypomagnesemia, Hypophosphatemic rickets, Hypophosphatemia, Hypokalemia, Glycosuria, Progressive ... |
OMIM:219800 |
Colchicine Poisoning |
|
Hypomagnesemia, Hypophosphatemia, Hypokalemia, Hypocalcemia, Abnormal blood ion concentration, Hy... |
ORPHA:31824 |
Primary Fanconi Renotubular Syndrome |
|
Hypophosphatemic rickets, Hypophosphatemia, Hypokalemia, Glycosuria, Hypoglycemia, Decreased plas... |
ORPHA:3337 |
Seizures, Sensorineural Deafness, Ataxia, Mental Retardation, And Electrolyte Imbalance |
|
Hypomagnesemia, Hypokalemia, Ataxia, Dysdiadochokinesis, Increased circulating renin level |
OMIM:612780 |
Primary Aldosteronism, Seizures, And Neurologic Abnormalities |
|
Decreased circulating renin level, Hypokalemia, Athetosis |
OMIM:615474 |
Craniosynostosis-Mental Retardation Syndrome Of Lin And Gettig |
|
Multiple joint contractures, Decreased palmar creases, Slender finger, Joint contracture of the h... |
OMIM:218649 |
Bartter Syndrome, Type 1, Antenatal |
|
Failure to thrive, Hypomagnesemia, Hypokalemia, Small for gestational age, Chondrocalcinosis, Inc... |
OMIM:601678 |
Loeys-Dietz Syndrome 1 |
|
Talipes equinovarus, Craniosynostosis, Arachnodactyly, Camptodactyly, Postaxial hand polydactyly,... |
OMIM:609192 |
Renal Tubular Acidosis Iii |
|
Hypokalemia |
OMIM:267200 |
Osteootohepatoenteric Syndrome |
|
Failure to thrive, Weight loss, Hypokalemia, Increased serum bile acid concentration |
OMIM:619377 |
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome |
|
Hypokalemia, Athetosis |
ORPHA:369929 |
Loeys-Dietz Syndrome 3 |
|
Uterine prolapse, Talipes equinovarus, Cystocele, Craniosynostosis, Intervertebral disc degenerat... |
OMIM:613795 |
Liddle Syndrome 1 |
|
Decreased circulating renin level, Hypokalemia |
OMIM:177200 |
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness |
|
Failure to thrive, Hypokalemia, Hyponatremia, Hypochloremia, Hyperchloriduria |
OMIM:602522 |
Familial Hyperaldosteronism Type Ii |
|
Hypokalemia |
ORPHA:404 |
Familial Hyperaldosteronism Type I |
|
Hypokalemia |
ORPHA:403 |
Lethal Kniest-Like Dysplasia |
|
Abnormal cartilage morphology, Abnormal cartilage matrix |
ORPHA:2347 |
Familial Hyperaldosteronism Type Iii |
|
Hypokalemia |
ORPHA:251274 |
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease |
|
Elevated alpha-fetoprotein, Elevated circulating creatinine concentration, Hypokalemia |
OMIM:613095 |
Romano-Ward Syndrome |
|
Hypokalemia |
ORPHA:101016 |
Pearson Syndrome |
|
Hypomagnesemia, Hypophosphatemia, Hypocalcemia, Hypokalemia, Ataxia, Small for gestational age, G... |
ORPHA:699 |
Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Hypokalemia, Elevated circulating creatinine concentration, Unconjugated hyperbilirubinemia, Hypo... |
ORPHA:90038 |
Leprechaunism |
|
Postprandial hyperglycemia, Failure to thrive, Hyperinsulinemia, Hypokalemia, Decreased body weig... |
ORPHA:508 |
Hyperaldosteronism, Familial, Type Iii |
|
Decreased circulating renin level, Hypokalemia |
OMIM:613677 |
Juvenile Polyposis Syndrome |
|
Failure to thrive, Hypokalemia, Hypoalbuminemia |
OMIM:174900 |
Chromosome 1P36 Deletion Syndrome, Distal |
|
Wide anterior fontanel, Clinodactyly of the 5th finger, Camptodactyly of finger, Brachydactyly, S... |
OMIM:607872 |
Renpenning Syndrome 1 |
|
Synostosis of the proximal phalanx of the thumb with the 1st metacarpal, Clinodactyly of the 5th ... |
OMIM:309500 |
Chromosome 1P36 Deletion Syndrome, Proximal |
|
Clinodactyly, Camptodactyly |
OMIM:619343 |
Marburg Hemorrhagic Fever |
|
Hypokalemia, Hyperammonemia, Elevated circulating creatine kinase concentration, Arthritis, Hypog... |
ORPHA:99826 |
Bartter Syndrome, Type 2, Antenatal |
|
Failure to thrive, Hypomagnesemia, Hypokalemia, Small for gestational age, Chondrocalcinosis, Inc... |
OMIM:241200 |
Ectopic Aldosterone-Producing Tumor |
|
Decreased circulating renin level, Hypokalemia |
ORPHA:231632 |
Ablepharon-Macrostomia Syndrome |
|
Clinodactyly of the 5th finger, Talipes equinovarus, Camptodactyly, Ventral hernia, Omphalocele, ... |
OMIM:200110 |
Vipoma |
|
Weight loss, Hypokalemia, Hypercalcemia, Diabetes mellitus |
ORPHA:97282 |
Andersen Cardiodysrhythmic Periodic Paralysis |
|
Depression, Hypokalemia |
OMIM:170390 |
Primary Unilateral Adrenal Hyperplasia |
|
Decreased circulating renin level, Hypokalemia |
ORPHA:231580 |
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion |
|
Decreased circulating renin level, Hypokalemia |
ORPHA:231625 |
Mercury Poisoning |
|
Hypokalemia |
ORPHA:330021 |
Bartter Syndrome, Type 3 |
|
Hypokalemia, Hyperchloriduria, Increased circulating renin level |
OMIM:607364 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Broad-based gait, Long hallux, Inability to walk, Ulnar deviation of the hand, Flexion contractur... |
ORPHA:261537 |
Helix Syndrome |
|
Hypokalemia, Hypermagnesemia |
OMIM:617671 |
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Decreased circulating renin level, Hypokalemia, Failure to thrive |
ORPHA:90793 |
Mowat-Wilson Syndrome |
|
Broad-based gait, Recurrent fractures, Ataxia, Inability to walk, Ulnar deviation of the hand, Fl... |
ORPHA:2152 |
Scorpion Envenomation |
|
Ataxia, Hypokalemia, Increased circulating NT-proBNP concentration, Glycosuria, Increased circula... |
ORPHA:466677 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Broad-based gait, Long hallux, Inability to walk, Ulnar deviation of the hand, Flexion contractur... |
ORPHA:261552 |
Multiple Osteochondromas |
|
Talipes valgus, Arthritis, Limitation of knee mobility, Genu valgum, Abnormal cartilage morpholog... |
ORPHA:321 |
Nelson Syndrome |
|
Hypokalemia, Type II diabetes mellitus |
ORPHA:199244 |
Proximal Renal Tubular Acidosis |
|
Failure to thrive, Hypokalemia, Glycosuria, Bicarbonaturia |
ORPHA:47159 |
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency |
|
Decreased circulating renin level, Hypokalemia |
ORPHA:90795 |
Microphthalmia, Syndromic 1 |
|
Short clavicles, Abnormal palmar dermatoglyphics, Joint contracture of the hand, Prominent finger... |
OMIM:309800 |
Generalized Glucocorticoid Resistance Syndrome |
|
Hypoglycemia, Hypokalemia |
ORPHA:786 |
Distal Renal Tubular Acidosis |
|
Failure to thrive, Hypokalemia |
ORPHA:18 |
Encephalocraniocutaneous Lipomatosis |
|
Osteochondrosis, Abnormal cartilage morphology |
ORPHA:2396 |
Immunodeficiency 87 And Autoimmunity |
|
Hypertriglyceridemia, Hypokalemia, Elevated circulating C-reactive protein concentration, Small f... |
OMIM:619573 |
Tsh-Secreting Pituitary Adenoma |
|
Weight loss, Hypokalemia |
ORPHA:91347 |
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency |
|
Decreased circulating renin level, Hypokalemia |
OMIM:202010 |
Vascular Ehlers-Danlos Syndrome |
|
Hypokalemia, Joint dislocation, Cognitive impairment, Osteoarthritis, Congenital hip dislocation |
ORPHA:286 |