| Syndactyly Type 4 |
|
1-5 finger syndactyly, Toe syndactyly, Camptodactyly of finger, 6 metacarpals, Hand polydactyly, ... |
ORPHA:93405 |
| Synpolydactyly 1 |
|
2nd-5th toe middle phalangeal hypoplasia, Finger syndactyly, Broad hallux, Mesoaxial hand polydac... |
OMIM:186000 |
| Syndactyly Type 2 |
|
Mesoaxial polydactyly, Sandal gap, Camptodactyly of finger, 2-3 toe syndactyly, Symphalangism aff... |
ORPHA:93403 |
| Familial Short Qt Syndrome |
|
Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Atrioventricular block, Syncope... |
ORPHA:51083 |
| Brugada Syndrome 3 |
|
Atrial fibrillation, J wave, Sudden cardiac death, Shortened QT interval, Syncope, Ventricular ar... |
OMIM:611875 |
| Polydactyly, Preaxial Ii |
|
Syndactyly, Duplication of thumb phalanx, Opposable triphalangeal thumb, Preaxial hand polydactyl... |
OMIM:174500 |
| Short Qt Syndrome 1 |
|
Paroxysmal atrial fibrillation, Cardiac arrest, Sudden cardiac death, Shortened QT interval, Sync... |
OMIM:609620 |
| Brugada Syndrome |
|
Tachycardia, Cardiac arrest, First degree atrioventricular block, Trifascicular block, ST segment... |
ORPHA:130 |
| Acromesomelic Dysplasia 2A |
|
Hypoplasia of the ulna, Short humerus, Short femur, Aplasia/Hypoplasia of the patella, Postaxial ... |
OMIM:200700 |
| Symphalangism With Multiple Anomalies Of Hands And Feet |
|
Finger syndactyly, Small hypothenar eminence, Toe syndactyly, 2-5 finger cutaneous syndactyly, Ab... |
ORPHA:3246 |
| Short Qt Syndrome 7 |
|
Cardiac arrest, Sudden cardiac death, Shortened QT interval, Syncope, Ventricular fibrillation |
OMIM:620231 |
| Short Qt Syndrome 2 |
|
Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Syncope, Bradycardia, Ventricul... |
OMIM:609621 |
| Osebold-Remondini Syndrome |
|
Dysplastic distal radial epiphyses, Broad toe, Decreased finger mobility, Hypoplasia of the ulna,... |
OMIM:112910 |
| Polydactyly, Postaxial, Type A1 |
|
Syndactyly, Preaxial hand polydactyly, Postaxial hand polydactyly, Postaxial foot polydactyly, Tr... |
OMIM:174200 |
| Acromesomelic Dysplasia 2C |
|
Hypoplasia of the ulna, Shortening of all middle phalanges of the fingers, Radial bowing, Single ... |
OMIM:201250 |
| Brugada Syndrome 9 |
|
Prolonged QT interval, ST segment elevation, Palpitations, Presyncope |
OMIM:616399 |
| Leri-Weill Dyschondrosteosis |
|
Hypoplasia of the ulna, Radial bowing, Abnormal femoral neck morphology, Dorsal subluxation of ul... |
OMIM:127300 |
| Syndactyly, Type Iii |
|
Absent middle phalanx of 5th finger, Syndactyly, 4-5 finger syndactyly, Short 5th finger |
OMIM:186100 |
| Syndactyly Type 1 |
|
Finger syndactyly, Toe syndactyly, Symphalangism affecting the phalanges of the hand |
ORPHA:93402 |
| Fibular Hemimelia |
|
Bowing of the legs, Structural foot deformity, Tibial bowing, Increased laxity of ankles, Foot ol... |
ORPHA:93323 |
| Brugada Syndrome 4 |
|
Shortened QT interval, Syncope, Atrial fibrillation |
OMIM:611876 |
| Léri-Weill Dyschondrosteosis |
|
Micromelia, Abnormal tibia morphology, Abnormal carpal morphology, Abnormal femur morphology, Tib... |
ORPHA:240 |
| Short Qt Syndrome 3 |
|
Shortened QT interval, Tachycardia, Palpitations |
OMIM:609622 |
| Acromesomelic Dysplasia, Grebe Type |
|
Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Brachydactyly, Tarsal synostosis, Micr... |
ORPHA:2098 |
| Glycogen Storage Disease Xv |
|
Scapular winging, ST segment elevation, Right bundle branch block, Paroxysmal ventricular tachyca... |
OMIM:613507 |
| Cardiomyopathy, Dilated, 1Nn |
|
Increased left ventricular end-diastolic volume, Congestive heart failure, Abnormal ST segment, D... |
OMIM:615916 |
| 15Q11Q13 Microduplication Syndrome |
|
Clinodactyly of the 5th finger, Finger syndactyly, Attention deficit hyperactivity disorder, Comp... |
ORPHA:238446 |
| Intellectual Disability-Spasticity-Ectrodactyly Syndrome |
|
Finger syndactyly, Abnormality of the upper limb, Abnormal hip bone morphology, Clinodactyly of t... |
ORPHA:1891 |
| Brachydactyly Type A7 |
|
Hallux valgus, Short 2nd finger, Sandal gap, Short hallux, Aplasia/Hypoplasia of the middle phala... |
ORPHA:93397 |
| Chondrodysplasia Punctata, Tibia-Metacarpal Type |
|
Micromelia, Epiphyseal stippling, Short long bone, Short 3rd metacarpal, Limb undergrowth, Short ... |
OMIM:118651 |
| Triphalangeal Thumb With Polysyndactyly |
|
Finger syndactyly, Preaxial hand polydactyly, Postaxial hand polydactyly, Triphalangeal thumb, Br... |
OMIM:190605 |
| Long Qt Syndrome 13 |
|
Cardiac arrest, Pulmonary embolism, Congestive heart failure, Permanent atrial fibrillation, Atri... |
OMIM:613485 |
| Brachydactyly, Type A2 |
|
Hallux valgus, Triangular shaped middle phalanx of the 2nd finger, Broad hallux, Short hallux, Ul... |
OMIM:112600 |
| Brugada Syndrome 7 |
|
Atrial flutter, Paroxysmal atrial fibrillation, ST segment elevation, Permanent atrial fibrillati... |
OMIM:613120 |
| Hallux Varus And Preaxial Polysyndactyly |
|
Preaxial hand polydactyly, Syndactyly, Broad hallux, Hallux varus |
OMIM:234280 |
| Jervell And Lange-Nielsen Syndrome 1 |
|
Prolonged QT interval, Sudden cardiac death, Syncope, Torsade de pointes, Prolonged QTc interval |
OMIM:220400 |
| Long Qt Syndrome 2 |
|
Prolonged QT interval, Cardiac arrest, Sudden cardiac death, Syncope, Torsade de pointes, Prolong... |
OMIM:613688 |
| Cardiomyopathy, Familial Hypertrophic, 13 |
|
Atrial fibrillation, Angina pectoris, Concentric hypertrophic cardiomyopathy, Right bundle branch... |
OMIM:613243 |
| Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome |
|
Syndactyly, Abnormality of the hand, Hand oligodactyly, Tibial bowing, Foot oligodactyly, Short t... |
OMIM:246570 |
| Wahab Syndrome |
|
Syndactyly, Short metacarpal, Short thumb, Short foot, Short palm, Clinodactyly, Camptodactyly, A... |
OMIM:615170 |
| Congenital Radioulnar Synostosis |
|
Syndactyly, Abnormal morphology of the radius, Congenital hip dislocation, Abnormal morphology of... |
ORPHA:3269 |
| Attention Deficit-Hyperactivity Disorder |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:143465 |
| Winchester Syndrome |
|
Osteolysis involving tarsal bones, Corneal opacity, Broad metacarpals, Carpal osteolysis |
OMIM:277950 |
| Lethal Faciocardiomelic Dysplasia |
|
Microretrognathia, Hypoplasia of the ulna, Sandal gap, Radial club hand, Short thumb, Hypoplasia ... |
ORPHA:1972 |
| Smith-Magenis syndrome |
|
Hyperactivity, Abnormal repetitive mannerisms, Self-mutilation, Brachydactyly |
DECIPHER:8 |
| Syndactyly Type 5 |
|
Camptodactyly of finger, 2-3 toe syndactyly, Ulnar deviation of finger, Metacarpal synostosis, Cl... |
ORPHA:93406 |
| Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome |
|
Hyperactivity, Large for gestational age, Bruxism, Aggressive behavior |
ORPHA:356996 |
| Congenital Left Ventricular Aneurysm |
|
Congestive heart failure, Arrhythmia, Abnormal ST segment, Abnormal T-wave |
ORPHA:1055 |
| Long Qt Syndrome 10 |
|
Prolonged QT interval, Atrial fibrillation, Sudden cardiac death, T-wave alternans, Atrioventricu... |
OMIM:611819 |
| Langer Mesomelic Dysplasia |
|
Hypoplasia of the ulna, Radial bowing, Micrognathia, Hypoplasia of the radius, Madelung deformity... |
OMIM:249700 |
| Syndactyly Type 3 |
|
Finger syndactyly, Short toe, Camptodactyly of finger |
ORPHA:93404 |
| Acrocapitofemoral Dysplasia |
|
Micromelia, Short proximal phalanx of thumb, Coxa vara, Hypoplastic iliac wing, Short palm, Short... |
OMIM:607778 |
| Endove Syndrome, Limb-Only Type |
|
Short middle phalanx of the 2nd finger, Fibular hypoplasia, Disproportionate shortening of the ti... |
OMIM:619217 |
| Cardiomyopathy, Familial Restrictive, 3 |
|
Abnormal ST segment, Reduced left ventricular ejection fraction, Hypotension, Left axis deviation... |
OMIM:612422 |
| Long Qt Syndrome 6 |
|
Prolonged QT interval, Cardiac arrest, Sudden cardiac death, Syncope, Torsade de pointes, Prolong... |
OMIM:613693 |
| Long Qt Syndrome 8 |
|
Syndactyly, Sudden cardiac death, Sinus bradycardia, Syncope, Aborted sudden cardiac death, Prolo... |
OMIM:618447 |
| Atrial Fibrillation, Familial, 9 |
|
Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Syncope, Palpitations, Prolonged Q... |
OMIM:613980 |
| Congenital Absence Of Upper Arm And Forearm With Hand Present |
|
Syndactyly, Small for gestational age, Upper limb phocomelia, Atypical scarring of skin, Polydact... |
ORPHA:294975 |
| Syndactyly, Type Iv |
|
1-5 finger syndactyly, Postaxial polydactyly, 6 metacarpals, 2-3 toe syndactyly, Supernumerary me... |
OMIM:186200 |
| Corneal Dystrophy, Endothelial, X-Linked |
|
Corneal opacity, Corneal dystrophy, Band keratopathy |
OMIM:300779 |
| Intellectual Developmental Disorder, Autosomal Recessive 33 |
|
Syndactyly, Short toe |
OMIM:614341 |
| Long Qt Syndrome 14 |
|
Prolonged QT interval, 2:1 atrioventricular block, Cardiac arrest, T-wave alternans, Prolonged QT... |
OMIM:616247 |
| Cataract-Microcornea Syndrome |
|
Cataract, Corneal opacity, Corneal dystrophy, Microcornea, Iris coloboma |
ORPHA:1377 |
| Camptosynpolydactyly, Complex |
|
Syndactyly, Polydactyly, Camptodactyly, Cutaneous syndactyly |
OMIM:607539 |
| Brugada Syndrome 6 |
|
ST segment elevation, Ventricular fibrillation, Cardiac arrest |
OMIM:613119 |
| Ventricular Tachycardia, Catecholaminergic Polymorphic, 3 |
|
Prolonged QT interval, Bidirectional ventricular tachycardia, Cardiac arrest, Polymorphic ventric... |
OMIM:614021 |
| Hypogonadism With Low-Grade Mental Deficiency And Microcephaly |
|
2-4 toe syndactyly, Syndactyly |
OMIM:241000 |
| Ophthalmomandibulomelic Dysplasia |
|
Corneal opacity, Camptodactyly of finger, Micromelia, Elbow dislocation, Radioulnar dislocation, ... |
ORPHA:2741 |
| Multicentric Carpotarsal Osteolysis Syndrome |
|
Ulnar deviation of the hand, Corneal opacity, Ankle swelling, Congenital diaphragmatic hernia, Mi... |
OMIM:166300 |
| Long Qt Syndrome 1 |
|
Prolonged QT interval, Sudden cardiac death, Syncope, Torsade de pointes, Prolonged QTc interval,... |
OMIM:192500 |
| Acheiropody |
|
Carpal bone aplasia, Short humerus, Peromelia, Aplasia of the phalanges of the hand, Aplasia of t... |
OMIM:200500 |
| Brugada Syndrome 8 |
|
Right bundle branch block, ST segment elevation, Ventricular tachycardia |
OMIM:613123 |
| Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency |
|
ST segment elevation, Ventricular tachycardia, Right bundle branch block, Cardiomyopathy, T-wave ... |
ORPHA:263297 |
| Corneal Dystrophy, Posterior Polymorphous, 2 |
|
Corneal opacity, Corneal dystrophy |
OMIM:609140 |
| Larsen-Like Osseous Dysplasia-Short Stature Syndrome |
|
Corneal opacity, Abnormal pelvic girdle bone morphology, Hip dysplasia, Abnormal metacarpal morph... |
ORPHA:2370 |
| Tako-Tsubo Cardiomyopathy |
|
Prolonged QTc interval, Mildly reduced left ventricular ejection fraction, Obesity, Bradycardia, ... |
ORPHA:66529 |
| Atrial Fibrillation, Familial, 3 |
|
Paroxysmal atrial fibrillation, Atrial fibrillation, Sudden cardiac death, Permanent atrial fibri... |
OMIM:607554 |
| Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome |
|
Clinodactyly of the 5th finger, Finger syndactyly, Radioulnar synostosis, Hip dysplasia |
ORPHA:71289 |
| Nathalie Syndrome |
|
Abnormal EKG, Cataract |
OMIM:255990 |
| Fraxe Intellectual Disability |
|
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... |
ORPHA:100973 |
| Split-Hand/Foot Malformation 4 |
|
Syndactyly, Aplasia/Hypoplasia of the phalanges of the hand, Split hand, Aplasia/Hypoplasia of th... |
OMIM:605289 |
| Myofibrillar Myopathy 10 |
|
Sandal gap, Ankle flexion contracture, Elbow flexion contracture, Increased QRS voltage, Knee fle... |
OMIM:619040 |
| Brugada Syndrome 5 |
|
ST segment elevation, Bundle branch block, Ventricular fibrillation |
OMIM:612838 |
| Brachydactyly, Coloboma, And Anterior Segment Dysgenesis |
|
Syndactyly, Coloboma, Peters anomaly, Ocular anterior segment dysgenesis, Clinodactyly, Iris colo... |
OMIM:610023 |
| Mesoaxial Synostotic Syndactyly With Phalangeal Reduction |
|
Finger syndactyly, Toe syndactyly, Short hallux, Aplasia/Hypoplasia of the middle phalanges of th... |
ORPHA:157801 |
| Tibial Aplasia-Ectrodactyly Syndrome |
|
Omphalocele, Finger syndactyly, Short femur, Preaxial hand polydactyly, Postaxial hand polydactyl... |
ORPHA:3329 |
| Polydactyly, Postaxial, Type A5 |
|
Syndactyly, Postaxial hand polydactyly, Cutaneous finger syndactyly, Metacarpal synostosis |
OMIM:263450 |
| Orofaciodigital Syndrome Viii |
|
Syndactyly, Short tibia, Polydactyly |
OMIM:300484 |
| Crossed Polysyndactyly |
|
Finger syndactyly, Aplasia/Hypoplasia of the thumb, Postaxial hand polydactyly |
ORPHA:2935 |
| Orofaciodigital Syndrome Type 10 |
|
Radial deviation of the hand, Duplication of thumb phalanx, Tarsal synostosis, Micrognathia, Shor... |
ORPHA:2756 |
| Long Qt Syndrome 9 |
|
Prolonged QT interval, Cardiac arrest, Sinus bradycardia, Syncope, Abnormal U wave, Ventricular a... |
OMIM:611818 |
| Atrial Fibrillation, Familial, 14 |
|
ST segment elevation, Paroxysmal atrial fibrillation, Hypertension, Prolonged PR interval |
OMIM:615378 |
| Corneal Dystrophy-Perceptive Deafness Syndrome |
|
Corneal opacity, Corneal dystrophy |
ORPHA:1490 |
| Tibia, Hypoplasia Or Aplasia Of, With Polydactyly |
|
Short tibia, Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication |
OMIM:188740 |
| Chromosome 17P13.3, Telomeric, Duplication Syndrome |
|
Contracture of the proximal interphalangeal joint of the 3rd finger, Short metacarpal, Brachydact... |
OMIM:612576 |
| Syndactyly, Mesoaxial Synostotic, With Phalangeal Reduction |
|
Aplasia/Hypoplasia of the thumb, Single transverse palmar crease, Aplasia/Hypoplasia of the middl... |
OMIM:609432 |
| Long Qt Syndrome 11 |
|
Syncope, Prolonged QTc interval |
OMIM:611820 |
| X-Linked Intellectual Disability, Stocco Dos Santos Type |
|
Hyperactivity, Cataract, Small for gestational age, Congenital bilateral hip dislocation, Talipes... |
ORPHA:85288 |
| Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Myocardial infarction, Cerebral hemorrhage, Congestive heart failure, Hypertension, Syncope, Isch... |
ORPHA:90065 |
| Tibial Hemimelia |
|
Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Knee flexion contracture, Increased... |
ORPHA:93322 |
| Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities |
|
Hyperactivity, Aggressive behavior, Obesity, Bilateral coxa valga, Hypertrophic cardiomyopathy |
OMIM:620270 |
| Bardet-Biedl Syndrome 9 |
|
Syndactyly, Bone spicule pigmentation of the retina, Cataract, Postaxial polydactyly, Postaxial h... |
OMIM:615986 |
| Mietens Syndrome |
|
Hypoplasia of the ulna, Cataract, Corneal opacity, Talipes, Sclerocornea, Coxa valga, Elbow dislo... |
ORPHA:2557 |
| Macrosomia-Microphthalmia-Cleft Palate Syndrome |
|
Microcornea, Corneal opacity, Large for gestational age |
ORPHA:2432 |
| Andersen Cardiodysrhythmic Periodic Paralysis |
|
Micrognathia, Short metatarsal, Short palm, Prominent U wave, Clinodactyly of the 5th finger, Sho... |
OMIM:170390 |
| Acrofacial Dysostosis Syndrome Of Rodriguez |
|
11 pairs of ribs, Overlapping toe, Single transverse palmar crease, Micrognathia, Fibular hypopla... |
OMIM:201170 |
| Tropical Endomyocardial Fibrosis |
|
Prolonged QRS complex, Restrictive cardiomyopathy, Atrioventricular block, Left bundle branch blo... |
ORPHA:75565 |
| Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness |
|
Prolonged QT interval, Shock, Cardiac arrest, Polymorphic ventricular tachycardia, Premature vent... |
OMIM:615441 |
| Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures |
|
Syndactyly, Tapered finger, Obesity, Attention deficit hyperactivity disorder, Clinodactyly of th... |
OMIM:618725 |
| Mucous Membrane Pemphigoid |
|
Atypical scarring of skin, Corneal opacity |
ORPHA:46486 |
| Sick Sinus Syndrome 4 |
|
Sinoatrial block, Chronotropic incompetence, Abnormal QT interval, Paroxysmal atrial fibrillation... |
OMIM:619464 |
| Liebenberg Syndrome |
|
Metaphyseal widening, Elbow flexion contracture, Abnormal carpal morphology, 2-3 finger syndactyl... |
OMIM:186550 |
| Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type |
|
Short tibia, Hypoplasia of the radius, Pseudoarthrosis |
OMIM:156230 |
| Heart-Hand Syndrome, Slovenian Type |
|
Syndactyly, Dilated cardiomyopathy, Aplasia of the middle phalanx of the hand, Clinodactyly, Brac... |
OMIM:610140 |
| Jervell And Lange-Nielsen Syndrome 2 |
|
Prolonged QT interval, Sudden cardiac death, Premature ventricular contraction, Syncope, Torsade ... |
OMIM:612347 |
| Spinal Muscular Atrophy With Mental Retardation |
|
Syndactyly |
OMIM:271109 |
| Spinocerebellar Degeneration-Corneal Dystrophy Syndrome |
|
Corneal opacity, Corneal dystrophy |
ORPHA:3177 |
| Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development |
|
Hypoplasia of the ulna, Short femur, Absent thumb, Fibular hypoplasia, Aplasia/Hypoplasia of the ... |
OMIM:612447 |
| Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy |
|
Atrial flutter, Tachycardia, Atrial fibrillation, Cardiac arrest, Congestive heart failure, Dilat... |
OMIM:616117 |
| Acropectoral Syndrome |
|
Preaxial hand polydactyly, Finger syndactyly |
ORPHA:85203 |
| Mesomelic Dysplasia, Savarirayan Type |
|
Abnormal foot morphology, Talipes equinovalgus, Hip dislocation, Fibular aplasia, Mesomelia, Shor... |
OMIM:605274 |
| Progressive Familial Heart Block, Type Ib |
|
Prolonged QT interval, Shortened PR interval, Atrioventricular block, Right bundle branch block, ... |
OMIM:604559 |
| Parathyroid Carcinoma |
|
Shortened QT interval, Weight loss, Dysphagia, Lipoma, Polydipsia, Chondrocalcinosis |
ORPHA:143 |
| Laurin-Sandrow Syndrome |
|
Syndactyly, Absent radius, Patellar aplasia, Short foot, Hand polydactyly, Triphalangeal thumb, B... |
OMIM:135750 |
| Split-Hand/Foot Malformation 1 |
|
Syndactyly, Broad hallux, Split hand, Hand oligodactyly, Split foot, Foot oligodactyly, Ectrodact... |
OMIM:183600 |
| Bardet-Biedl Syndrome 5 |
|
Syndactyly, Polydactyly, Obesity, Brachydactyly |
OMIM:615983 |
| Sick Sinus Syndrome 1 |
|
Prolonged QT interval, Ventricular escape rhythm, Absent P wave, Atrioventricular block, Sinus br... |
OMIM:608567 |
| Idiopathic Neonatal Atrial Flutter |
|
Abnormal EKG, Abnormal atrioventricular conduction, Large for gestational age, Abnormal left vent... |
ORPHA:45452 |
| Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome |
|
Omphalocele, Finger syndactyly, Congenital diaphragmatic hernia, Aplasia/hypoplasia of the humeru... |
ORPHA:2141 |
| Sinoatrial Node Dysfunction And Deafness |
|
Increased heart rate variability, Abnormal QRS complex, Syncope, Bradycardia |
OMIM:614896 |
| Cataract 21, Multiple Types |
|
Retinal detachment, Corneal opacity, Cerulean cataract, Microcornea, Cortical pulverulent catarac... |
OMIM:610202 |
| Brachydactyly-Syndactyly Syndrome |
|
Syndactyly, Finger syndactyly, Camptodactyly, Short phalanx of finger, Short digit, Oligodactyly,... |
OMIM:610713 |
| Syndactyly, Type V |
|
Brachydactyly, Camptodactyly of finger, 4-5 toe syndactyly, 4-5 metacarpal synostosis, Enlarged p... |
OMIM:186300 |
| Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly |
|
Congenital hip dislocation, Abnormal finger flexion crease, Aplasia/Hypoplasia of the 5th finger,... |
OMIM:228930 |
| Atrial Septal Defect, Ostium Secundum Type |
|
Bundle branch block, First degree atrioventricular block, Pedal edema, Abnormal left ventricular ... |
ORPHA:99103 |
| Microphthalmia With Limb Anomalies |
|
Micrognathia, Tibial bowing, Camptodactyly of 2nd-5th fingers, Foot oligodactyly, Clinodactyly of... |
ORPHA:1106 |
| Cardiogenic Shock |
|
Abnormal EKG, Increased pulmonary capillary wedge pressure, Cardiac arrest, Myocardial infarction... |
ORPHA:97292 |
| Stuve-Wiedemann Syndrome 1 |
|
Single transverse palmar crease, Micrognathia, Femoral bowing, Tibial bowing, Knee flexion contra... |
OMIM:601559 |
| Gollop-Wolfgang Complex |
|
Hand monodactyly, Bifid femur, Aplasia/Hypoplasia of the ulna, Ectrodactyly, Aplasia/Hypoplasia o... |
ORPHA:1986 |
| Long Qt Syndrome 16 |
|
Second degree atrioventricular block, Prolonged QTc interval, T-wave alternans, Bradycardia |
OMIM:618782 |
| Hyperparathyroidism-Jaw Tumor Syndrome |
|
Shortened QT interval, Dysphagia, Lipoma, Polydipsia, Chondrocalcinosis |
ORPHA:99880 |
| Ectrodactyly-Polydactyly Syndrome |
|
Finger syndactyly, Camptodactyly of finger, Postaxial hand polydactyly, Symphalangism affecting t... |
ORPHA:1892 |
| Lattice Corneal Dystrophy Type I |
|
Subepithelial corneal opacities, Corneal opacity, Central opacification of the cornea, Corneal sc... |
ORPHA:98964 |
| Recessive Mitochondrial Ataxia Syndrome |
|
ST segment elevation, Dysphagia |
ORPHA:94125 |
| Brachydactyly Type B |
|
Type B brachydactyly, Finger syndactyly, Short metacarpal, 2nd-5th toe middle phalangeal hypoplas... |
ORPHA:93383 |
| Glaucoma 3, Primary Congenital, D |
|
Corneal opacity, Primary congenital glaucoma, Ectopia lentis |
OMIM:613086 |
| Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3 |
|
Syndactyly, Postaxial hand polydactyly |
OMIM:615938 |
| Incessant Infant Ventricular Tachycardia |
|
Wolff-Parkinson-White syndrome, Bundle branch block, Prolonged QRS complex, Cardiac arrest, Conge... |
ORPHA:45453 |
| Dermoids Of Cornea |
|
Corneal opacity |
OMIM:304730 |
| Scheie Syndrome |
|
Aortic regurgitation, Corneal opacity, Genu valgum, Aortic valve stenosis, Pes cavus, Retinal deg... |
OMIM:607016 |
| Carpenter Syndrome |
|
Syndactyly, Finger syndactyly, Toe syndactyly, Postaxial hand polydactyly, Obesity, Genu valgum, ... |
ORPHA:65759 |
| Santos Syndrome |
|
Syndactyly, Postaxial polydactyly, Metatarsus adductus, Preaxial polydactyly, Genu valgum, Polyda... |
OMIM:613005 |
| Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Bowing of the legs, Coxa vara, Coloboma, Narrow greater sciatic notch, Short phalanx of finger, S... |
ORPHA:85167 |
| Andersen-Tawil Syndrome |
|
Prolonged QT interval, Bidirectional ventricular ectopy, Clinodactyly of the 5th toe, Micrognathi... |
ORPHA:37553 |
| Chromosome 3Q29 Deletion Syndrome |
|
Hyperactivity, Small for gestational age, Tapered finger, Aggressive behavior, Long fingers, Clin... |
OMIM:609425 |
| Chromosome 2Q35 Duplication Syndrome |
|
Distal symphalangism of hands, 3-4 finger syndactyly, 2-3 toe syndactyly, Cutaneous syndactyly |
OMIM:185900 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type |
|
Hyperactivity, Small hand, Hip dislocation, Short foot, Talipes equinovarus, Bruxism |
OMIM:300434 |
| Terminal Osseous Dysplasia |
|
Syndactyly, Multiple joint contractures, Camptodactyly of finger, Abnormal hand bone ossification... |
OMIM:300244 |
| Orofaciodigital Syndrome Iv |
|
Toe syndactyly, Postaxial polydactyly, Micrognathia, Hand polydactyly, Foot polydactyly, Short fi... |
OMIM:258860 |
| Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Cataract, Prolonged QRS complex, Left axis deviation, Congestive heart failure, ST segment elevat... |
OMIM:261740 |
| Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability |
|
Retinal detachment, Cataract, Corneal opacity, Optic atrophy, Chorioretinal coloboma, Posterior e... |
ORPHA:1473 |
| Ophthalmomandibulomelic Dysplasia |
|
Radial bowing, Coxa valga, Elbow dislocation, Ulnar deviated club hands, Fibular hypoplasia, Radi... |
OMIM:164900 |
| Aphalangia, Partial, With Syndactyly And Duplication Of Metatarsal Iv |
|
Aplasia/Hypoplasia of toe, Syndactyly, Duplication of metatarsal bones, Cutaneous finger syndactyly |
OMIM:600384 |
| Split-Hand/Foot Malformation 6 |
|
Finger syndactyly, Toe syndactyly, Split hand, Hand oligodactyly, Split foot, Foot oligodactyly |
OMIM:225300 |
| Intellectual Developmental Disorder, X-Linked 101 |
|
Clinodactyly, Hyperactivity, Optic atrophy |
OMIM:300928 |
| Long Qt Syndrome 15 |
|
Ventricular ectopy, 2:1 atrioventricular block, Cardiac arrest, Polymorphic ventricular tachycard... |
OMIM:616249 |
| Orofaciodigital Syndrome Ix |
|
Toe syndactyly, Hand polydactyly, Retinal coloboma, Camptodactyly, Short tibia |
OMIM:258865 |
| Muscular Dystrophy, Becker Type |
|
Calf muscle pseudohypertrophy, Abnormal EKG, Arrhythmia, Cardiomyopathy |
OMIM:300376 |
| Cardiac Arrhythmia, Ankyrin-B-Related |
|
Prolonged QT interval, Atrial fibrillation, Sudden cardiac death, Sinus bradycardia, Syncope |
OMIM:600919 |
| Intellectual Developmental Disorder, X-Linked 109 |
|
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... |
OMIM:309548 |
| Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome |
|
Clinodactyly of the 5th finger, Finger syndactyly, Radioulnar synostosis, Abnormality of the elbow |
ORPHA:3268 |
| Brachydactyly Type B2 |
|
Type B brachydactyly, Finger syndactyly, Short toe, Symphalangism affecting the phalanges of the ... |
ORPHA:140908 |
| Mucolipidosis Type Iii |
|
Inguinal hernia, Corneal opacity, Abnormal hip bone morphology, Hypoplastic inferior ilia, Large ... |
ORPHA:577 |
| Polydactyly, Preaxial Iv |
|
Duplication of thumb phalanx, Preaxial polydactyly, Dysplastic distal thumb phalanges with a cent... |
OMIM:174700 |
| Galactosialidosis |
|
Corneal opacity |
ORPHA:351 |
| Cardiomyopathy, Familial Hypertrophic, 27 |
|
Prolonged QT interval, Tricuspid regurgitation, Cardiac arrest, Left ventricular diastolic dysfun... |
OMIM:618052 |
| Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant |
|
Corneal opacity, Dilated cardiomyopathy, Flexion contracture, Developmental cataract, Bradycardia... |
OMIM:618815 |
| Pandas |
|
Anorexia, Impulsivity, Abnormal fear-induced behavior, Depression, Irritability, Tics, Attention ... |
ORPHA:66624 |
| Ectodermal Dysplasia, Ectrodactyly, And Macular Dystrophy Syndrome |
|
2-4 finger syndactyly, 1-4 finger syndactyly, Split hand, 2-3 finger syndactyly, Camptodactyly, J... |
OMIM:225280 |
| Morm Syndrome |
|
Hyperactivity, Cataract, Retinal atrophy, Aggressive behavior, Truncal obesity |
ORPHA:75858 |
| Terminal Osseous Dysplasia-Pigmentary Defects Syndrome |
|
Syndactyly, Osteolysis involving bones of the upper limbs, Flexion contracture, Osteolysis involv... |
ORPHA:88630 |
| Bilateral Parasagittal Parieto-Occipital Polymicrogyria |
|
Abnormal fear-induced behavior, Pseudobulbar paralysis, Abnormal digit morphology, Aggressive beh... |
ORPHA:208441 |
| Long Qt Syndrome 3 |
|
Ventricular flutter, Sudden cardiac death, Ventricular tachycardia, Syncope, Torsade de pointes, ... |
OMIM:603830 |
| Long Qt Syndrome 5 |
|
Sudden cardiac death, Sinus bradycardia, Syncope, Torsade de pointes, Prolonged QTc interval, Ven... |
OMIM:613695 |
| Dyggve-Melchior-Clausen Disease |
|
Glenoid fossa hypoplasia, Coxa vara, Hyperactivity, Iliac crest serration, Rhizomelia, Hypoplasia... |
ORPHA:239 |
| Cardiomyopathy, Dilated, 1D |
|
Prolonged QT interval, Increased left ventricular end-diastolic volume, Atrial fibrillation, Sudd... |
OMIM:601494 |
| Sick Sinus Syndrome 2 |
|
Aortic regurgitation, Paroxysmal atrial fibrillation, Atrial fibrillation, Cardiac arrest, Sudden... |
OMIM:163800 |
| Eiken Syndrome |
|
Epiphyseal dysplasia, Absence of the sacrum, Abnormal acetabulum morphology, Abnormal fingertip m... |
ORPHA:79106 |
| Atrial Standstill |
|
Ventricular escape rhythm, Cardiac conduction abnormality, Atrial standstill, Congestive heart fa... |
ORPHA:1344 |
| Developmental Delay, Language Impairment, And Ocular Abnormalities |
|
Hyperactivity, Inguinal hernia, Impulsivity, Aggressive behavior, Myopic astigmatism, Development... |
OMIM:620141 |
| Long Qt Syndrome 12 |
|
Syncope, Prolonged QTc interval, Ventricular fibrillation, Torsade de pointes |
OMIM:612955 |
| Thiel-Behnke Corneal Dystrophy |
|
Subepithelial corneal opacities, Astigmatism, Central corneal dystrophy, Recurrent corneal erosio... |
ORPHA:98960 |
| Atrial Fibrillation, Familial, 7 |
|
Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Prolonged QTc interval, Sinus brad... |
OMIM:612240 |
| Wagro Syndrome |
|
Cataract, Corneal opacity, Aggressive behavior, Micrognathia, Obesity, Hypertension, Agitation, L... |
OMIM:612469 |
| Congenital Heart Block |
|
First degree atrioventricular block, Gallop rhythm, Congestive heart failure, Atrioventricular bl... |
ORPHA:60041 |
| Laurin-Sandrow Syndrome |
|
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Tarsal synostosis, Talipes, A... |
ORPHA:2378 |
| Usmani-Riazuddin Syndrome, Autosomal Dominant |
|
Pes planus, Hyperactivity, Aggressive behavior, 2-3 toe syndactyly, Depression, Self-injurious be... |
OMIM:619467 |
| Romano-Ward Syndrome |
|
Sudden cardiac death, Sinus bradycardia, Syncope, Torsade de pointes, Abnormal T-wave, Prolonged ... |
ORPHA:101016 |
| 3-Methylglutaconic Aciduria, Type V |
|
Prolonged QT interval, Noncompaction cardiomyopathy, Sudden cardiac death, Congestive heart failu... |
OMIM:610198 |
| Cardiomyopathy, Familial Hypertrophic, 26 |
|
Atrial fibrillation, Sudden cardiac death, Congestive heart failure, Permanent atrial fibrillatio... |
OMIM:617047 |
| Erythrokeratodermia Variabilis |
|
Cataract, Corneal opacity, Tapered finger, Patchy palmoplantar hyperkeratosis, Weight loss, Brach... |
ORPHA:317 |
| Neurodevelopmental Disorder With Hypotonia, Language Delay, And Skeletal Defects With Or Without Seizures |
|
Prolonged QT interval, Pes planus, Optic nerve hypoplasia, Micrognathia, 2-3 toe cutaneous syndac... |
OMIM:620029 |
| Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome |
|
Brachydactyly, Single transverse palmar crease, Bifid distal phalanx of the thumb, Overweight, Tr... |
ORPHA:370010 |
| Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development |
|
Retinal detachment, Cataract, Corneal opacity, Aggressive behavior, Myopic astigmatism, Optic atr... |
OMIM:152950 |
| Early-Onset Cerebellar Ataxia With Retained Tendon Reflexes |
|
Abnormal EKG, Decreased/absent ankle reflexes, Optic atrophy, Cardiomyopathy, Dysphagia, Pes cavus |
ORPHA:1177 |
| Multiple Endocrine Neoplasia Type 1 |
|
Anorexia, Hematemesis, Shortened QT interval, Depression, Melena, Hypertension, Multiple lipomas,... |
ORPHA:652 |
| Slc35A2-Cdg |
|
Limb joint contracture, Camptodactyly of finger, Abnormality of the hand, Coxa valga, Metatarsus ... |
ORPHA:356961 |
| Femur-Fibula-Ulna Complex |
|
Short humerus, Finger syndactyly, Abnormal morphology of ulna, Micromelia, Humeroradial synostosi... |
ORPHA:2019 |
| Timothy Syndrome |
|
Prolonged QT interval, Ventricular tachycardia, Atrioventricular block, Cutaneous syndactyly, Bra... |
OMIM:601005 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 12 |
|
Right ventricular cardiomyopathy, Prolonged QRS complex, Ventricular tachycardia, T-wave inversio... |
OMIM:611528 |
| Spondylometaphyseal Dysplasia With Corneal Dystrophy |
|
Coarse metaphyseal trabecularization, Corneal opacity, Metaphyseal widening, Squared iliac bones,... |
OMIM:618961 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 14 |
|
Prolonged QT interval, Joint contracture, Cataract |
OMIM:615351 |
| Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome |
|
Hallux valgus, Hyperactivity, Cone-shaped epiphyses of the 3rd toe, Hyperopic astigmatism, Obesit... |
ORPHA:397973 |
| Bardet-Biedl Syndrome 4 |
|
Syndactyly, Obesity, Polydactyly, Retinal degeneration, Brachydactyly |
OMIM:615982 |
| Emery-Dreifuss Muscular Dystrophy 1, X-Linked |
|
Absent P wave, Sudden cardiac death, First degree atrioventricular block, Achilles tendon contrac... |
OMIM:310300 |
| Congenital Disorder Of Glycosylation, Type Ig |
|
Retinal detachment, Short humerus, Short femur, Rhizomelia, Sandal gap, Small for gestational age... |
OMIM:607143 |
| Split-Hand/Foot Malformation 2 |
|
Finger syndactyly, Short metacarpal, Split hand, Split foot, Short phalanx of finger |
OMIM:313350 |
| Mesomelic Dysplasia, Nievergelt Type |
|
Finger syndactyly, Abnormal morphology of ulna, Micromelia, Tarsal synostosis, Elbow dislocation,... |
ORPHA:2633 |
| Bilateral Striopallidodentate Calcinosis |
|
Corneal opacity |
ORPHA:1980 |
| Robin Sequence With Cleft Mandible And Limb Anomalies |
|
Proximal placement of thumb, Micrognathia, Clinodactyly of the 5th finger, Short tibia, Short pha... |
OMIM:268305 |
| Bartsocas-Papas Syndrome 2 |
|
2-5 finger cutaneous syndactyly, Corneal opacity, Micrognathia, Small hand, Antecubital pterygium... |
OMIM:619339 |
| Autoimmune Hypoparathyroidism |
|
Prolonged QT interval, Cataract, Depression, Abnormal left ventricular function, Irritability, Co... |
ORPHA:36913 |
| Stickler Syndrome Type 2 |
|
Retinal detachment, Cataract, Corneal opacity |
ORPHA:90654 |
| Greig Cephalopolysyndactyly Syndrome |
|
Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Congenital diaphragmatic hernia, Preaxia... |
ORPHA:380 |
| Pseudohypoparathyroidism Type 1C |
|
Prolonged QT interval, Short metacarpal, Cataract, Short fifth metatarsal, Short metatarsal, Obes... |
ORPHA:79444 |
| Harel-Yoon Syndrome |
|
Corneal opacity, Micrognathia, Talipes equinovalgus, Optic atrophy, Developmental cataract, Hip d... |
OMIM:617183 |
| Brachydactyly, Type B2 |
|
Tarsal synostosis, Proximal placement of thumb, Aplasia/Hypoplasia of the distal phalanges of the... |
OMIM:611377 |
| Rett Syndrome |
|
Cachexia, Short foot, Bruxism, Abnormal T-wave, Prolonged QTc interval, Stereotypical hand wringing |
OMIM:312750 |
| Jervell And Lange-Nielsen Syndrome |
|
Syncope, Torsade de pointes, Arrhythmia, Prolonged QTc interval, Ventricular fibrillation |
ORPHA:90647 |
| Cirrhotic Cardiomyopathy |
|
Prolonged QT interval, Elevated jugular venous pressure, Left ventricular diastolic dysfunction, ... |
ORPHA:57777 |
| Split-Hand/Foot Malformation With Long Bone Deficiency 1 |
|
Short hallux, Aplasia of the 3rd finger, Patellar aplasia, Split hand, Hand monodactyly, Split fo... |
OMIM:119100 |
| Phenylketonuria |
|
Hyperactivity, Cataract, Aggressive behavior, Blue irides, Depression, Irritability, Compulsive b... |
OMIM:261600 |
| Atrial Fibrillation, Familial, 11 |
|
Reduced left ventricular ejection fraction, Prolonged P wave, Atrial fibrillation, Prolonged QRS ... |
OMIM:614049 |
| Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia |
|
Sick sinus syndrome, Hyperactivity, Bradycardia, Attention deficit hyperactivity disorder |
OMIM:617182 |
| Acromelic Frontonasal Dysostosis |
|
Tubulonodular pericallosal lipoma, Syndactyly, Remnants of the hyaloid vascular system, Optic ner... |
OMIM:603671 |
| Chromosome 2Q37 Deletion Syndrome |
|
Hyperactivity, Short fourth metatarsal, Short metacarpal, Aggressive behavior, Short toe, Type E ... |
OMIM:600430 |
| Boomerang Dysplasia |
|
Omphalocele, Finger syndactyly, Abnormal morphology of the radius, Abnormal morphology of ulna, M... |
ORPHA:1263 |
| Aarskog-Scott Syndrome |
|
Finger syndactyly, Inguinal hernia, Pes planus, Genu recurvatum, Single transverse palmar crease,... |
ORPHA:915 |
| Multicentric Osteolysis, Nodulosis, And Arthropathy |
|
Peripheral opacification of the cornea, Micrognathia, Metaphyseal widening, Metatarsal osteolysis... |
OMIM:259600 |
| Gordon Syndrome |
|
Clinodactyly of the 5th finger, Finger syndactyly, Camptodactyly of finger, Talipes |
ORPHA:376 |
| Anterior Segment Dysgenesis 7 |
|
Cataract, Corneal opacity, Sclerocornea, Microcornea, Buphthalmos, Anterior synechiae of the ante... |
OMIM:269400 |
| Proximal Symphalangism |
|
Finger syndactyly, Brachydactyly, Camptodactyly of finger, Tarsal synostosis, Elbow dislocation, ... |
ORPHA:3250 |
| Acropectorovertebral Dysplasia |
|
Finger syndactyly, Toe syndactyly, Bifid distal phalanx of the thumb, Capitate-hamate fusion, Sho... |
OMIM:102510 |
| Hypomelanosis Of Ito |
|
Syndactyly, Cataract, Hand polydactyly, Radial deviation of finger, Clinodactyly, Iris coloboma |
OMIM:300337 |
| Multiple Epiphyseal Dysplasia, Al-Gazali Type |
|
Delayed epiphyseal ossification, Genu valgum, Cutaneous syndactyly, Clinodactyly, Spindle-shaped ... |
ORPHA:166024 |
| Summitt Syndrome |
|
Syndactyly, Obesity |
OMIM:272350 |
| Intellectual Developmental Disorder, Autosomal Dominant 67 |
|
Hyperactivity, Astigmatism, Compulsive behaviors, Attention deficit hyperactivity disorder, Motor... |
OMIM:619927 |
| Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Hypoplastic pubic ramus, Proximal placement of thumb, Micrognathia, Short metatarsal, Patellar hy... |
OMIM:609945 |
| Scorpion Envenomation |
|
Restlessness, Bundle branch block, Tachycardia, Cardiac conduction abnormality, Congestive heart ... |
ORPHA:466677 |
| Anterior Segment Dysgenesis 2 |
|
Cataract, Corneal opacity, Sclerocornea, Microcornea, Coloboma, Posterior synechiae of the anteri... |
OMIM:610256 |
| Acromesomelic Dysplasia 2B |
|
Short metacarpal, Brachydactyly, Rhizomelia, Deformed tarsal bones, Talipes equinovalgus, Short m... |
OMIM:228900 |
| Short Syndrome |
|
Posterior embryotoxon, Inguinal hernia, Corneal opacity, Abnormal dental enamel morphology, Lipod... |
ORPHA:3163 |
| Morquio Syndrome C |
|
Corneal opacity |
OMIM:252300 |
| Sclerosteosis |
|
Finger syndactyly, Optic atrophy, 2-3 finger syndactyly, Curved distal phalanges of the hand, Dia... |
ORPHA:3152 |
| Pseudohypoparathyroidism Type 1A |
|
Prolonged QT interval, Short metacarpal, Cataract, Short fifth metatarsal, Band keratopathy, Broa... |
ORPHA:79443 |
| Gand Syndrome |
|
Long toe, Hyperactivity, Long fingers, Tics, Inappropriate laughter |
OMIM:615074 |
| Hirschsprung Disease-Ganglioneuroblastoma Syndrome |
|
Prolonged QT interval, Abnormal pupil morphology, Arrhythmia |
ORPHA:2151 |
| Brachydactyly, Type B1 |
|
Type B brachydactyly, Syndactyly, Hypoplastic sacrum, Aplasia/Hypoplasia of the distal phalanges ... |
OMIM:113000 |
| Norrie Disease |
|
Retinal detachment, Cataract, Corneal opacity, Aggressive behavior, Optic atrophy, Leukocoria, Hy... |
OMIM:310600 |
| Summitt Syndrome |
|
Finger syndactyly, Camptodactyly of finger, Obesity, Genu valgum, Short palm, Clinodactyly of the... |
ORPHA:3210 |
| Mucolipidosis Iv |
|
Optic atrophy, Retinal degeneration, Corneal opacity, Opacification of the corneal stroma |
OMIM:252650 |
| Microcephaly-Micromelia Syndrome |
|
Micromelia, Absent thumb, Absent radius, Micrognathia, Missing ribs, Humeroradial synostosis, For... |
OMIM:251230 |
| Osteoporosis-Pseudoglioma Syndrome |
|
Retinal detachment, Crumpled long bones, Corneal opacity, Metaphyseal widening, Abnormal femoral ... |
ORPHA:2788 |
| Autosomal Dominant Keratitis |
|
Cataract, Keratitis, Abnormal corneal limbus morphology, Microcornea, Coloboma, Hypoplastic iris ... |
ORPHA:2334 |
| X-Linked Corneal Dermoid |
|
Abnormal pupil morphology, Corneal opacity |
ORPHA:1661 |
| Multifocal Atrial Tachycardia |
|
Atrial flutter, Tachycardia, Atrial fibrillation, Paroxysmal atrial tachycardia, Effort-induced p... |
ORPHA:3282 |
| Insensitivity To Pain, Congenital, With Anhidrosis |
|
Hyperactivity, Postural hypotension with compensatory tachycardia, Autoamputation of digits, Kera... |
OMIM:256800 |
| Megalocornea |
|
Iridodonesis, Retinal detachment, Cataract, Mosaic corneal dystrophy, Deep anterior chamber, Iris... |
OMIM:309300 |
| Multiple Epiphyseal Dysplasia, Lowry Type |
|
Epiphyseal dysplasia, Brachydactyly, Rhizomelia, Micrognathia, Delayed epiphyseal ossification, F... |
ORPHA:166016 |
| Carpenter Syndrome 1 |
|
Duplication of the proximal phalanx of the hallux, Micrognathia, Microcornea, Clinodactyly of the... |
OMIM:201000 |
| X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Hyperactivity, Anorexia, Aggressive behavior, Abnormal fear-induced behavior, Congestive heart fa... |
ORPHA:3077 |
| Fatco Syndrome |
|
Finger syndactyly, Tarsal synostosis, Abnormal tibia morphology, Split hand, Absent hand, Abnorma... |
ORPHA:2492 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 5 |
|
Right ventricular cardiomyopathy, Prolonged QRS complex, Sudden cardiac death, Congestive heart f... |
OMIM:604400 |
| Gómez-López-Hernández Syndrome |
|
Corneal opacity |
ORPHA:1532 |
| Wolff-Parkinson-White Syndrome |
|
Wolff-Parkinson-White syndrome, Atrial flutter, Paroxysmal atrial fibrillation, Prolonged QRS com... |
OMIM:194200 |
| Aminopterin Syndrome Sine Aminopterin |
|
Syndactyly, Inguinal hernia, Rudimentary postaxial polydactyly of hands, Arachnodactyly, Microgna... |
OMIM:600325 |
| Muscular Dystrophy, Cardiac Type |
|
Abnormal EKG, Cardiomyopathy |
OMIM:309930 |
| Intellectual Developmental Disorder, Autosomal Recessive 38 |
|
Hyperactivity, Sandal gap, Aggressive behavior, Blue irides, Recurrent hand flapping, Self-mutila... |
OMIM:615516 |
| Focal Dermal Hypoplasia |
|
Abnormal palmar dermatoglyphics, Congenital diaphragmatic hernia, Hypoplasia of the iris, Chorior... |
ORPHA:2092 |
| Moebius Syndrome |
|
Syndactyly, Brachydactyly, Pes planus, Micrognathia, Split hand, Abnormal pelvic girdle bone morp... |
OMIM:157900 |
| Gitelman Syndrome |
|
Prolonged QT interval, Salt craving, Raynaud phenomenon, Low-to-normal blood pressure, Syncope, S... |
ORPHA:358 |
| Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome |
|
Aplasia/Hypoplasia of the iris, Cataract, Corneal opacity, Persistent pupillary membrane |
ORPHA:1067 |
| Atelosteogenesis Type Iii |
|
Absent humerus, Ulnar deviation of the wrist, Epiphyseal stippling of the humerus, Short tubular ... |
ORPHA:56305 |
| Cri-Du-Chat Syndrome |
|
Microretrognathia, Syndactyly, Hyperactivity, Cataract, Short metacarpal, Single transverse palma... |
OMIM:123450 |
| Holt-Oram Syndrome |
|
Finger syndactyly, Paroxysmal atrial fibrillation, Down-sloping shoulders, First degree atriovent... |
ORPHA:392 |
| Microphthalmia With Brain And Digit Anomalies |
|
Finger syndactyly, Cataract, Sclerocornea, Proximal placement of thumb, Microcornea, Postaxial fo... |
ORPHA:139471 |
| Limbal Stem Cell Deficiency |
|
Opacification of the corneal epithelium, Generalized opacification of the cornea, Keratitis, Corn... |
ORPHA:171673 |
| Mucopolysaccharidosis, Type Ivb |
|
Inguinal hernia, Corneal opacity, Pointed proximal second through fifth metacarpals, Ulnar deviat... |
OMIM:253010 |
| Laurence-Moon Syndrome |
|
Finger syndactyly, Cataract, Bilateral single transverse palmar creases, Obesity, Hand polydactyl... |
ORPHA:2377 |
| Bent Bone Dysplasia Syndrome 2 |
|
Ulnar deviation of the hand, Bowed humerus, Ulnar bowing, Femoral bowing, Short sternum, Talipes ... |
OMIM:620076 |
| Congenital Sialidosis Type 2 |
|
Abnormal EKG, Inguinal hernia, Cataract, Corneal opacity, Optic atrophy, Telangiectasia, Developm... |
ORPHA:93400 |
| Cardiomyopathy, Familial Hypertrophic, 6 |
|
Wolff-Parkinson-White syndrome, Atrial fibrillation, Prolonged QRS complex, Congestive heart fail... |
OMIM:600858 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 10 |
|
Right ventricular cardiomyopathy, Sudden cardiac death, Ventricular tachycardia, Premature ventri... |
OMIM:610193 |
| Hereditary Bullous Dystrophy, Macular Type |
|
Cataract, Corneal opacity, Tapered finger, Heart murmur, Short finger |
ORPHA:1867 |
| Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Knee osteoarthritis, Flared metaphysis, Flattened epiphysis, Tibial bowing, Femoral bowing, Small... |
ORPHA:93356 |
| Metaphyseal Dysplasia, Braun-Tinschert Type |
|
Broad tibial metaphyses, Humerus varus, Tibial bowing, Exostoses of the ulna, Sclerosis of middle... |
ORPHA:85188 |
| Corneal Dystrophy, Reis-Bucklers Type |
|
Corneal erosion, Corneal opacity, Corneal dystrophy, Opacification of the corneal stroma |
OMIM:608470 |
| Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome |
|
Cataract, Corneal opacity, Optic nerve hypoplasia, Micrognathia, Optic atrophy, Positional foot d... |
ORPHA:496790 |
| Bartsocas-Papas Syndrome |
|
Finger syndactyly, Toe syndactyly, Corneal opacity, Talipes, Aplasia/Hypoplasia of the distal pha... |
ORPHA:1234 |
| Pelvis-Shoulder Dysplasia |
|
Syndactyly, Aplasia/Hypoplasia of the ribs, Aplasia/Hypoplasia of the clavicles, Camptodactyly of... |
ORPHA:2839 |
| Mesomelic Dysplasia, Savarirayan Type |
|
Broad tibial metaphyses, Bowing of the long bones, Glenoid fossa hypoplasia, Elbow dislocation, H... |
ORPHA:85170 |
| Macular Dystrophy, Corneal |
|
Punctate opacification of the cornea, Corneal dystrophy, Recurrent corneal erosions |
OMIM:217800 |
| Oculocerebrocutaneous Syndrome |
|
Finger syndactyly, Congenital hip dislocation, Corneal opacity, Talipes, Congenital diaphragmatic... |
ORPHA:1647 |
| Rubinstein-Taybi Syndrome 2 |
|
Syndactyly, Hyperactivity, Broad hallux, Micrognathia, Short first metatarsal, Short 5th toe, Pro... |
OMIM:613684 |
| Cornea Plana 2, Autosomal Recessive |
|
Flat cornea, Corneal opacity, Sclerocornea, Corneal arcus, Decreased corneal thickness |
OMIM:217300 |
| Oculomaxillofacial Dysostosis |
|
Brachydactyly, Corneal opacity, Camptodactyly of finger, Micrognathia, Abnormality of the humerus... |
ORPHA:1794 |
| Temtamy Preaxial Brachydactyly Syndrome |
|
Micrognathia, Abnormal optic disc morphology, Cutaneous finger syndactyly, Partial duplication of... |
ORPHA:363417 |
| Al-Gazali Syndrome |
|
Proximal radio-ulnar synostosis, Bowed humerus, Corneal opacity, Sclerocornea, Micrognathia, Bila... |
OMIM:609465 |
| Alpha-Mannosidosis |
|
Bowing of the long bones, Cataract, Corneal opacity, Inguinal hernia, Hip dysplasia, Hypoplastic ... |
ORPHA:61 |
| Spinocerebellar Degeneration And Corneal Dystrophy |
|
Corneal stromal edema, Corneal dystrophy, Opacification of the corneal stroma |
OMIM:271310 |
| Distal Deletion 6P |
|
Posterior embryotoxon, Corneal opacity, Micrognathia, Hypoplasia of the iris, Self-injurious beha... |
ORPHA:96125 |
| Persistent Hyperplastic Primary Vitreous |
|
Glial remnants anterior to the optic disc, Cataract, Corneal opacity, Hyaloid vascular remnant an... |
ORPHA:91495 |
| Omodysplasia 1 |
|
Short humerus, Rhizomelia, Increased fibular diameter, Micrognathia, Limited knee flexion, Fibula... |
OMIM:258315 |
| Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia |
|
Aplasia/Hypoplasia of the thumb, Short humerus, Elbow dislocation, Absent radius, Ulnar bowing, S... |
OMIM:171480 |
| Femur, Unilateral Bifid, With Monodactylous Ectrodactyly |
|
Aplasia of the ulna, Split hand, Bifid femur, Hand monodactyly, Absent tibia, Foot monodactyly |
OMIM:228250 |
| Brachyolmia Type 1, Toledo Type |
|
Broad tibial metaphyses, Short femoral neck, Opacification of the corneal stroma |
OMIM:271630 |
| Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome |
|
Aplasia/Hypoplasia of the thumb, Patellar aplasia, Abnormal fibula morphology, Aplasia/Hypoplasia... |
ORPHA:988 |
| Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Corneal opacity, Optic nerve hypoplasia, Rocker bottom foot, Coxa valga, Small for gestational ag... |
OMIM:301056 |
| Familial Hyperaldosteronism Type Iii |
|
Prolonged QT interval, Epistaxis, Intracranial hemorrhage, Hypertension, Polydipsia |
ORPHA:251274 |
| Faciocardiomelic Dysplasia, Lethal |
|
Hypoplasia of the ulna, Radial deviation of the hand, Small for gestational age, Single transvers... |
OMIM:227270 |
| Intellectual Developmental Disorder, Autosomal Recessive 39 |
|
Hallux valgus, Hyperactivity, Abnormal repetitive mannerisms, Aggressive behavior |
OMIM:615541 |
| 16P12.1P12.3 Triplication Syndrome |
|
Hallux valgus, Nail-biting, Hyperactivity, Tachycardia, Tapered finger, 2-3 toe syndactyly, Clino... |
ORPHA:485405 |
| Dpagt1-Cdg |
|
Prolonged QT interval, Arachnodactyly, Lipodystrophy, Aggressive behavior, Clinodactyly, Flexion ... |
ORPHA:86309 |
| Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Omphalocele, Microretrognathia, Rhizomelia, Postaxial polydactyly, Squared iliac bones, Preaxial ... |
OMIM:616300 |
| Mucolipidosis Iii Alpha/Beta |
|
Aortic regurgitation, Soft tissue swelling of interphalangeal joints, Hyperopic astigmatism, Irre... |
OMIM:252600 |
| Congenital Rubella Syndrome |
|
Abnormality of retinal pigmentation, Cataract, Corneal opacity, Aplasia/Hypoplasia of the iris, A... |
ORPHA:290 |
| Monosomy 5P |
|
Microretrognathia, Finger syndactyly, Inguinal hernia, Small hand |
ORPHA:281 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Edema of the dorsum of feet, Micrognathia, Femoral bowing, Abnormal shoulder morphology, Clinodac... |
OMIM:274000 |
| Sialidosis Type 2 |
|
Inguinal hernia, Corneal opacity, Flexion contracture, Pedal edema, Umbilical hernia |
ORPHA:87876 |
| Microphthalmia With Limb Anomalies |
|
Failure to thrive, Toe syndactyly, Sandal gap, Single transverse palmar crease, Capitate-hamate f... |
OMIM:206920 |
| Weismann-Netter Syndrome |
|
Bowing of the long bones, Abnormal morphology of ulna, Abnormality of the humerus, Abnormal tibia... |
ORPHA:3344 |
| Femoral-Facial Syndrome |
|
Inguinal hernia, Short femur, Micrognathia, Abnormal fibula morphology, Coxa vara, Abnormal pelvi... |
ORPHA:1988 |
| Acrodysostosis 2 With Or Without Hormone Resistance |
|
Short metacarpal, Hyperactivity, Blue irides, Short metatarsal, Advanced ossification of carpal b... |
OMIM:614613 |
| Multiple Synostoses Syndrome 1 |
|
Hypoplastic spinal processes, Single transverse palmar crease, Symphalangism affecting the phalan... |
OMIM:186500 |
| Moebius Syndrome |
|
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Brachydactyly, Corneal opacity, Abnormal morp... |
ORPHA:570 |
| Temtamy Preaxial Brachydactyly Syndrome |
|
Syndactyly, Short metacarpal, Hitchhiker thumb, Tarsal synostosis, Optic atrophy, Short metatarsa... |
OMIM:605282 |
| Pseudohypoparathyroidism Type 1B |
|
Prolonged QT interval, Cataract, Cortical subperiosteal resorption of humeral metaphyses, Diaphys... |
ORPHA:94089 |
| Brittle Cornea Syndrome 2 |
|
Keratoconus, Inguinal hernia, Flat cornea, Sclerocornea, Keratoglobus, Umbilical hernia, Decrease... |
OMIM:614170 |
| Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome |
|
Long toe, Hyperactivity, Optic nerve hypoplasia, Hyperopic astigmatism, Micrognathia, Long finger... |
ORPHA:363686 |
| 17Q24.2 Microdeletion Syndrome |
|
Prolonged QT interval, Failure to thrive in infancy, Aggressive behavior, Cubitus valgus, Microgn... |
ORPHA:529962 |
| Corneal Dystrophy, Posterior Polymorphous, 1 |
|
Polymorphous posterior corneal dystrophy, Iris atrophy, Corneal opacity, Band keratopathy, Uveal ... |
OMIM:122000 |
| Mucolipidosis Iii Gamma |
|
Aortic regurgitation, Abnormality of the hand, Flat capital femoral epiphysis, Genu valgum, Flare... |
OMIM:252605 |
| Sjogren-Larsson Syndrome |
|
Retinal pigment epithelial atrophy, Opacification of the corneal epithelium, Flexion contracture,... |
OMIM:270200 |
| Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
|
Cataract, Corneal opacity, Remnants of the hyaloid vascular system, Hyphema, Leukocoria, Microcor... |
OMIM:221900 |
| X-Linked Endothelial Corneal Dystrophy |
|
Abnormal corneal endothelium morphology, Nuclear cataract, Corneal opacity, Band keratopathy |
ORPHA:293621 |
| Cerebral Creatine Deficiency Syndrome 1 |
|
Prolonged QT interval, Aggressive behavior, Abnormal repetitive mannerisms, Attention deficit hyp... |
OMIM:300352 |
| Grange Syndrome |
|
Aortic regurgitation, Hypertension, Short palm, Syndactyly |
ORPHA:79094 |
| Cardiomyopathy, Familial Hypertrophic, 8 |
|
Cardiac arrest, Sudden cardiac death, Congestive heart failure, T-wave inversion, Reduced left ve... |
OMIM:608751 |
| Neonatal Lupus Erythematosus |
|
Prolonged QT interval, Heart block, Dilated cardiomyopathy, Atrioventricular block, Abnormal elec... |
ORPHA:398124 |
| Acrootoocular Syndrome |
|
Short metacarpal, Small hypothenar eminence, Sandal gap, Decreased palmar creases, Abnormal finge... |
ORPHA:2980 |
| Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome |
|
Finger syndactyly, Camptodactyly of finger, Short thumb, Palmoplantar keratoderma, Triphalangeal ... |
ORPHA:2251 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type |
|
Hyperactivity, Impulsivity, Attention deficit hyperactivity disorder |
OMIM:301008 |
| Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome |
|
Remnants of the hyaloid vascular system, Microcornea, Posterior lenticonus, Chorioretinal colobom... |
ORPHA:231736 |
| Isolated Split Hand-Split Foot Malformation |
|
Finger syndactyly, Split hand, Absent hand, Aniridia, Oligodactyly |
ORPHA:2440 |
| Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Hypoplasia of the ulna, Metaphyseal spurs, Postaxial polydactyly, Metaphyseal widening, Preaxial ... |
OMIM:613091 |
| Intellectual Developmental Disorder, Autosomal Dominant 45 |
|
Pes planus, Hyperactivity, Arachnodactyly, Slender build, Heart murmur, Pulmonic stenosis, Attent... |
OMIM:617600 |
| Lipodystrophy, Congenital Generalized, Type 4 |
|
Prolonged QT interval, Tachycardia, Atrial fibrillation, Lipodystrophy, Flexion contracture, Brad... |
OMIM:613327 |
| Shox-Related Short Stature |
|
Micrognathia, Madelung deformity, Obesity, Tibial bowing, Short foot, Genu valgum, Forearm underg... |
ORPHA:314795 |
| Cardiomyopathy, Familial Hypertrophic, 10 |
|
Sudden cardiac death, Ventricular tachycardia, Left bundle branch block, Asymmetric septal hypert... |
OMIM:608758 |
| Mesomelic Dwarfism, Reinhardt-Pfeiffer Type |
|
Hypoplasia of the ulna, Abnormal morphology of ulna, Micromelia, Elbow dislocation, Abnormal tibi... |
ORPHA:2634 |
| Hurler-Scheie Syndrome |
|
Aortic regurgitation, Inguinal hernia, Corneal opacity, Camptodactyly of finger, Thenar muscle at... |
OMIM:607015 |
| Hurler Syndrome |
|
Aortic regurgitation, Inguinal hernia, Corneal opacity, Hypoplasia of the femoral head, Coxa valg... |
OMIM:607014 |
| Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency |
|
Restlessness, Hyperactivity, Syndactyly, Abnormality of the hand, Aggressive behavior, Abnormal f... |
ORPHA:369891 |
| Charlie M Syndrome |
|
Finger syndactyly, Micrognathia, Split hand, Triphalangeal thumb, Abnormal metacarpal morphology,... |
ORPHA:1406 |
| Gm1 Gangliosidosis |
|
Inguinal hernia, Corneal opacity, Camptodactyly of finger, Congestive heart failure, Optic atroph... |
ORPHA:354 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Retinal detachment, Coloboma, Cataract, Corneal opacity |
OMIM:613153 |
| Weaver Syndrome |
|
Finger syndactyly, Inguinal hernia, Sandal gap, Camptodactyly of finger, Micrognathia, Large hand... |
ORPHA:3447 |
| Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Single transverse palmar crease, Micrognathia, Large for gestational age, Flexion contracture, Ti... |
ORPHA:96334 |
| Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly |
|
Mirror image foot polydactyly, Preaxial foot polydactyly, Patellar hypoplasia, Popliteal pterygiu... |
OMIM:119800 |
| Keratitis, Hereditary |
|
Keratitis, Opacification of the corneal stroma |
OMIM:148190 |
| Orofaciodigital Syndrome Type 2 |
|
Finger syndactyly, Broad hallux, Micrognathia, Short tibia, Adactyly, Broad first metatarsal, Pos... |
ORPHA:2751 |
| Craniosynostosis, Philadelphia Type |
|
Finger syndactyly |
ORPHA:1527 |
| Neurodegeneration And Seizures Due To Copper Transport Defect |
|
Short tibia, Tricuspid regurgitation, Talipes equinovarus, Short femur |
OMIM:620306 |
| Spondylodysplastic Ehlers-Danlos Syndrome |
|
Multiple joint contractures, Single transverse palmar crease, Micrognathia, Metaphyseal widening,... |
ORPHA:536471 |
| Hurler-Scheie Syndrome |
|
Cardiomyopathy, Corneal opacity, Hernia |
ORPHA:93476 |
| Pelvis-Shoulder Dysplasia |
|
Congenital hip dislocation, Hypoplastic scapulae, Hypoplastic ilia, Optic disc coloboma, Hypoplas... |
OMIM:169550 |
| Dyschondrosteosis-Nephritis Syndrome |
|
Radial bowing, Corneal opacity, Micromelia, Ulnar bowing, Madelung deformity, Aplasia/Hypoplasia ... |
ORPHA:1765 |
| Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Prolonged QT interval, Tachycardia, Small for gestational age, Overweight, Dilated cardiomyopathy... |
ORPHA:26793 |
| Corneal Dystrophy And Perceptive Deafness |
|
Corneal dystrophy, Opacification of the corneal stroma |
OMIM:217400 |
| Cutis Laxa, Autosomal Dominant 3 |
|
Aortic regurgitation, Corneal opacity, Hip dislocation, Developmental cataract, Talipes equinovar... |
OMIM:616603 |
| Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type |
|
Shortening of all metacarpals, Shortening of all phalanges of fingers, Bilateral talipes equinova... |
OMIM:601356 |
| Acropectorovertebral Dysplasia |
|
Finger syndactyly, Camptodactyly of finger, Tarsal synostosis, Triphalangeal thumb, Synostosis of... |
ORPHA:957 |
| Isolated Osteopoikilosis |
|
Syndactyly, Abnormal pelvis bone morphology, Abnormal pelvis bone ossification, Abnormal femur mo... |
ORPHA:166119 |
| Corneal Dystrophy, Fuchs Endothelial, 3 |
|
Corneal stromal edema, Corneal opacity, Corneal guttata |
OMIM:613267 |
| Holt-Oram Syndrome |
|
Syndactyly, Hypoplasia of the ulna, Short humerus, Aplasia of the ulna, Absent thumb, Absent radi... |
OMIM:142900 |
| Cln3 Disease |
|
Cataract, Aggressive behavior, Optic atrophy, Depression, Pigmentary retinopathy, T-wave inversio... |
ORPHA:228346 |
| Atrial Septal Defect, Ostium Primum Type |
|
First degree atrioventricular block, Atrioventricular block, Fixed splitting of the second heart ... |
ORPHA:99106 |
| Incontinentia Pigmenti |
|
Retinal detachment, Finger syndactyly, Cataract, Corneal opacity, Telangiectasia of the skin, Cam... |
ORPHA:464 |
| 2Q23.1 Microdeletion Syndrome |
|
Hyperactivity, Sandal gap, Abnormal repetitive mannerisms, Self-injurious behavior, Hip dysplasia... |
ORPHA:228402 |
| Nasopalpebral Lipoma-Coloboma Syndrome |
|
Lipomas of eyelids, Cataract, Corneal opacity, Coloboma, Multiple lipomas, Clinodactyly of the 5t... |
ORPHA:2399 |
| Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities |
|
Syndactyly, Arachnodactyly, Abnormal repetitive mannerisms, Clinodactyly, Pes cavus |
OMIM:619092 |
| Acromesomelic Dysplasia 3 |
|
Carpal synostosis, Hypoplasia of the ulna, Brachydactyly, Tarsal synostosis, Short toe, Short 1st... |
OMIM:609441 |
| Curry-Jones Syndrome |
|
Finger syndactyly, Toe syndactyly, Abnormality of thumb phalanx, Preaxial hand polydactyly, Optic... |
ORPHA:1553 |
| Camptobrachydactyly |
|
Finger syndactyly, Aplasia/Hypoplasia of the thumb, Toe syndactyly, Camptodactyly of finger, Ulna... |
ORPHA:1319 |
| Congenital Hereditary Endothelial Dystrophy Type Ii |
|
Increased corneal thickness, Corneal opacity, Abnormal Descemet membrane morphology, Irregular as... |
ORPHA:293603 |
| Premature Aging Syndrome, Penttinen Type |
|
Brachydactyly, Failure to thrive, Corneal opacity, Lipoatrophy, Micrognathia, Hyperextensibility ... |
OMIM:601812 |
| Histiocytoid Cardiomyopathy |
|
Wolff-Parkinson-White syndrome, Atrial flutter, Tachycardia, Corneal opacity, Atrial fibrillation... |
ORPHA:137675 |
| Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome |
|
Pes planus, Cataract, Rhizomelia, Sclerocornea, 2-3 toe syndactyly, Microcornea, Coloboma, Ectopi... |
OMIM:615877 |
| Cocaine Intoxication |
|
Prolonged QT interval, Tachycardia, Prolonged QRS complex, Myocardial infarction, Diffuse alveola... |
ORPHA:90068 |
| Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities |
|
Hyperactivity, Aggressive behavior, Dysphoria, 2-3 toe cutaneous syndactyly, Decreased patellar r... |
OMIM:620242 |
| Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull |
|
Omphalocele, Syndactyly, Toe syndactyly, Congenital diaphragmatic hernia, Clinodactyly of the 5th... |
OMIM:601163 |
| Anterior Segment Dysgenesis 6 |
|
Corneal opacity, Abnormal Descemet membrane morphology, Developmental glaucoma, Posterior synechi... |
OMIM:617315 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Finger syndactyly, Tibial torsion, Aplasia/hypoplasia of the humerus, Absent radius, Coxa valga, ... |
ORPHA:3320 |
| Aarskog-Scott Syndrome |
|
Hyperextensibility of the finger joints, Syndactyly, Inguinal hernia, Pes planus, Single transver... |
OMIM:305400 |
| Posterior Polymorphous Corneal Dystrophy |
|
Increased corneal curvature, Corneal opacity, Uveal ectropion, Abnormal Descemet membrane morphol... |
ORPHA:98973 |
| Cenani-Lenz Syndactyly Syndrome |
|
Syndactyly, Hypoplasia of the ulna, Broad hallux, Micrognathia, Hypoplasia of the radius, Radioul... |
OMIM:212780 |
| Syndromic Recessive X-Linked Ichthyosis |
|
Corneal opacity, Attention deficit hyperactivity disorder |
ORPHA:281090 |
| Coloboma, Ocular, Autosomal Dominant |
|
Optic nerve aplasia, Remnants of the hyaloid vascular system, Corneal opacity, Optic disc colobom... |
OMIM:120200 |
| Acro-Renal-Ocular Syndrome |
|
Microcornea, Coloboma, Chorioretinal coloboma, Triphalangeal thumb, Iris coloboma, Hypoplasia of ... |
ORPHA:959 |
| Intellectual Developmental Disorder, Autosomal Dominant 4 |
|
Syndactyly, Short toe |
OMIM:612581 |
| Cutis Laxa, Autosomal Recessive, Type Iie |
|
Syndactyly, Inguinal hernia, Genu varum, Hip dislocation, Deep palmar crease, Clinodactyly of the... |
OMIM:619451 |
| Mucopolysaccharidosis, Type Vi |
|
Metaphyseal widening, Flexion contracture, Hypoplastic iliac wing, Tricuspid regurgitation, Hypop... |
OMIM:253200 |
| Coronary Arterial Fistula |
|
Abnormal EKG, Elevated jugular venous pressure, Continuous heart murmur, Tachycardia, Angina pect... |
ORPHA:2041 |
| Recessive X-Linked Ichthyosis |
|
Opacification of the corneal stroma, Attention deficit hyperactivity disorder |
ORPHA:461 |
| Peripartum Cardiomyopathy |
|
Tachycardia, Right ventricular failure, Cardiogenic shock, Congestive heart failure, Dilated card... |
ORPHA:563 |
| Muscular Dystrophy, Duchenne Type |
|
Abnormal EKG, Calf muscle pseudohypertrophy, Congestive heart failure, Achilles tendon contractur... |
OMIM:310200 |
| Rubinstein-Taybi Syndrome |
|
Finger syndactyly, Broad hallux phalanx, Abnormal distal phalanx morphology of finger, Failure to... |
ORPHA:783 |
| Gitelman Syndrome |
|
Prolonged QT interval, Salt craving, Ventricular tachycardia, Palpitations, Hypotension, Polydips... |
OMIM:263800 |
| Silver-Russell Syndrome Due To A Point Mutation |
|
Syndactyly, Inguinal hernia, Small for gestational age, Micrognathia, Short 5th finger, Polydacty... |
ORPHA:397590 |
| Keratoendotheliitis Fugax Hereditaria |
|
Keratitis, Conjunctival hyperemia, Opacification of the corneal stroma |
OMIM:148200 |
| Attrv122I Amyloidosis |
|
Abnormal EKG, Angina pectoris, Abnormal atrioventricular conduction, Congestive heart failure, Hy... |
ORPHA:85451 |
| Alpha-Mannosidosis, Adult Form |
|
Aortic regurgitation, Optic disc pallor, Cataract, Corneal opacity, Depression |
ORPHA:309288 |
| Epiphyseal Dysplasia-Hearing Loss-Dysmorphism Syndrome |
|
Abnormal thumb morphology, Finger syndactyly, Abnormality of the wrist, Proximal placement of thumb |
ORPHA:1825 |
| Anterior Segment Dysgenesis 5 |
|
Rieger anomaly, Sclerocornea, Developmental cataract, Microcornea, Hypoplasia of the iris, Anteri... |
OMIM:604229 |
| Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Tricuspid regurgitation, Preaxial hand polydactyly, Postaxial hand polydactyly, Disproportionate ... |
OMIM:263520 |
| 19P13.12 Microdeletion Syndrome |
|
Aortic regurgitation, Finger syndactyly, Hyperactivity, Toe clinodactyly, Sandal gap, Obesity, Se... |
ORPHA:254346 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 9 |
|
Right ventricular cardiomyopathy, Prolonged QRS complex, Cardiac arrest, Sudden cardiac death, Ve... |
OMIM:609040 |
| Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Finger syndactyly, Toe syndactyly, Telangiectasia of the skin, Optic atrophy, Hand polydactyly, C... |
ORPHA:60040 |
| Dyrk1A-Related Intellectual Disability Syndrome |
|
Aortic regurgitation, Optic disc pallor, Hyperactivity, Hallux valgus, Corneal opacity, Arachnoda... |
ORPHA:464306 |
| Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Aortic regurgitation, Retinal detachment, Optic disc pallor, Failure to thrive, Corneal opacity, ... |
ORPHA:464311 |
| 2Q37 Microdeletion Syndrome |
|
Short palm, Finger syndactyly, Short metacarpal, Toe syndactyly, Brachydactyly, Congenital diaphr... |
ORPHA:1001 |
| Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome |
|
Prolonged QT interval, Abnormal EKG, Optic atrophy, Dysphagia, Arrhythmia |
ORPHA:480864 |
| Nevus Comedonicus Syndrome |
|
Finger syndactyly, Toe syndactyly, Cataract, Abnormal foot morphology, Preaxial polydactyly |
ORPHA:64754 |
| Dilated Cardiomyopathy With Ataxia |
|
Prolonged QT interval, Repetitive compulsive behavior, Dilated cardiomyopathy, Optic atrophy |
ORPHA:66634 |
| Wild Type Attr Amyloidosis |
|
Abnormal EKG, Myocardial infarction, Congestive heart failure, Pedal edema, Weight loss, Bradycar... |
ORPHA:330001 |
| Fabry Disease |
|
Conjunctival telangiectasia, Bundle branch block, Cataract, Corneal opacity, Corneal dystrophy, A... |
ORPHA:324 |
| Van Den Ende-Gupta Syndrome |
|
Glenoid fossa hypoplasia, Sclerocornea, Micrognathia, 2-3 toe cutaneous syndactyly, Narrow foot, ... |
OMIM:600920 |
| 3Q29 Microduplication Syndrome |
|
Cataract, Toe syndactyly, Sandal gap, Sclerocornea, Obesity, Aniridia, Iris coloboma, Camptodacty... |
ORPHA:251038 |
| 8Q21.11 Microdeletion Syndrome |
|
Finger syndactyly, Cataract, Corneal opacity, Camptodactyly of finger, Sclerocornea, Micrognathia... |
ORPHA:284160 |
| Neurodevelopmental Disorder With Microcephaly, Impaired Language, And Gait Abnormalities |
|
Syndactyly, Clinodactyly, Flexion contracture |
OMIM:619091 |
| Congenital Primary Aphakia |
|
Congenital aphakia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Retinal dysplas... |
ORPHA:83461 |
| Dysferlin-Related Limb-Girdle Muscular Dystrophy R2 |
|
Abnormal EKG, Scapular winging, Proximal muscle weakness in upper limbs, Limited elbow movement, ... |
ORPHA:268 |
| Mucopolysaccharidosis Type 3 |
|
Hyperactivity, Cataract, Corneal opacity, Inguinal hernia, Aggressive behavior, Avascular necrosi... |
ORPHA:581 |
| Kury-Isidor Syndrome |
|
Finger syndactyly, Rocker bottom foot, Proximal placement of thumb, Hip dysplasia, Astigmatism, T... |
OMIM:619762 |
| Filippi Syndrome |
|
Single transverse palmar crease, 2-4 toe syndactyly, Optic atrophy, Cutaneous syndactyly, Finger ... |
OMIM:272440 |
| Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration |
|
Cardiac arrest, Oral-pharyngeal dysphagia, Ventricular tachycardia, Optic atrophy, Torsade de poi... |
OMIM:616878 |
| Cranioectodermal Dysplasia |
|
Finger syndactyly, Brachydactyly, Rhizomelia, Abnormal dental enamel morphology, Abnormal diaphys... |
ORPHA:1515 |
| Cenani-Lenz Syndrome |
|
Hypoplasia of the ulna, Finger syndactyly, Cataract, Toe syndactyly, Abnormal dental enamel morph... |
ORPHA:3258 |
| Periventricular Nodular Heterotopia 1 |
|
Syndactyly, Clinodactyly, Cerebral hemorrhage, Short finger |
OMIM:300049 |
| Farber Disease |
|
Abnormality of the knee, Corneal opacity, Abnormality of the hand, Abnormal foot morphology, Shor... |
ORPHA:333 |
| Cystinosis |
|
Corneal opacity, Portal hypertension, Polydipsia, Failure to thrive, Abnormal repetitive mannerisms |
ORPHA:213 |
| Mucopolysaccharidosis Type 4 |
|
Bowing of the long bones, Corneal opacity, Abnormal dental enamel morphology, Coxa valga, Grayish... |
ORPHA:582 |
| Peters Anomaly |
|
Central opacification of the cornea, Developmental glaucoma, Anterior synechiae of the anterior c... |
ORPHA:708 |
| Craniofrontonasal Dysplasia |
|
Finger syndactyly, Broad hallux phalanx, Sandal gap, Camptodactyly of finger, Down-sloping should... |
ORPHA:1520 |
| Juvenile Sialidosis Type 2 |
|
Inguinal hernia, Cataract, Corneal opacity, Optic atrophy, Dysphagia, Umbilical hernia |
ORPHA:93399 |
| Chromosome 6Pter-P24 Deletion Syndrome |
|
Broad toe, Rocker bottom foot, Telangiectasia, Pigmentary retinopathy, Hip dysplasia, Short 2nd t... |
OMIM:612582 |
| Granular Corneal Dystrophy Type Ii |
|
Subepithelial corneal opacities, Central opacification of the cornea, Recurrent corneal erosions,... |
ORPHA:98963 |
| Simpson-Golabi-Behmel Syndrome |
|
Prolonged QT interval, Bundle branch block, Finger syndactyly, Congenital hip dislocation, Toe sy... |
ORPHA:373 |
| Graves Disease, Susceptibility To, 1 |
|
Hyperactivity, Congestive heart failure, Weight loss, Irritability, Polyphagia |
OMIM:275000 |
| Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Radial bowing, Rhizomelia, Ulnar bowing, Flared metaphysis, Coxa vara, Tibial bowing, Femoral bow... |
OMIM:602111 |
| Ethylene Glycol Poisoning |
|
Prolonged QT interval, Shock, Tachycardia, Atrial fibrillation, Congestive heart failure, Euphori... |
ORPHA:31826 |
| Mosaic Trisomy 1 |
|
Long toe, Broad toe, Omphalocele, Toe syndactyly, Arachnodactyly, Single transverse palmar crease... |
ORPHA:1692 |
| Schimke Immuno-Osseous Dysplasia |
|
Wide capital femoral epiphyses, Corneal opacity, Transient ischemic attack, Small for gestational... |
ORPHA:1830 |
| Epidermolysis Bullosa, Junctional 1B, Severe |
|
Syndactyly, Enamel hypoplasia, Failure to thrive, Atrophic scars |
OMIM:226700 |
| Neurodevelopmental Disorder With Or Without Autism Or Seizures |
|
Hyperactivity, Failure to thrive, Pulmonic stenosis, Absent thumb |
OMIM:619239 |
| Epithelial Recurrent Erosion Dystrophy |
|
Subepithelial corneal opacities, Corneal dystrophy, Irregular astigmatism, Corneal scarring, Kera... |
ORPHA:293381 |
| Fuchs Endothelial Corneal Dystrophy |
|
Abnormal corneal endothelium morphology, Reduced number of corneal endothelial cells, Abnormal De... |
ORPHA:98974 |
| Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities |
|
Abnormal EKG, Pulmonic stenosis |
OMIM:178650 |
| X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome |
|
Finger syndactyly, Single transverse palmar crease, Ankle flexion contracture, Tapered finger, Kn... |
ORPHA:435938 |
| Multiple Sulfatase Deficiency |
|
Abnormality of retinal pigmentation, Broad hallux phalanx, Cataract, Corneal opacity, Optic atrop... |
ORPHA:585 |
| 2Q31.1 Microdeletion Syndrome |
|
Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Sandal gap, Abnormal morphology of ulna,... |
ORPHA:251014 |
| Occipital Horn Syndrome |
|
Coxa vara, Humerus varus, Short palm, Large iliac wing, Abnormality of the wrist, Femoral hernia,... |
ORPHA:198 |
| Familial Pterygium Of The Conjunctiva |
|
Opacification of the corneal stroma |
ORPHA:2989 |
| 20P13 Microdeletion Syndrome |
|
Finger syndactyly, Failure to thrive in infancy, Microcornea, Polydactyly, Decreased body weight,... |
ORPHA:313781 |
| Short Stature-Craniofacial Anomalies-Genital Hypoplasia Syndrome |
|
Microretrognathia, Finger syndactyly, Arachnodactyly, Camptodactyly of finger, Triphalangeal thum... |
ORPHA:2994 |
| Exercise-Induced Malignant Hyperthermia |
|
Prolonged QT interval, ST segment depression, Hypotension, Abnormal T-wave, Abnormal pulse pressu... |
ORPHA:466650 |
| Walker-Warburg Syndrome |
|
Retinal detachment, Cataract, Corneal opacity, Optic atrophy, Microcornea, Retinal dysplasia, Met... |
ORPHA:899 |
| Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Postaxial polydactyly, Micrognathia, Preaxial polydactyly, Hypoplastic pubic bone, Fibular hypopl... |
OMIM:617925 |
| Wilson Disease |
|
Abnormality of the hand, Aggressive behavior, Hypersexuality, Increased body weight, Depression, ... |
ORPHA:905 |
| Limb-Mammary Syndrome |
|
Hallux valgus, Syndactyly, Split hand, Split foot, Camptodactyly, Joint contracture of the hand |
OMIM:603543 |
| Eiken Syndrome |
|
Broad femoral neck, Delayed epiphyseal ossification, Flat acetabular roof, Fibular hypoplasia, Fl... |
OMIM:600002 |
| Camptobrachydactyly |
|
Syndactyly, Short toe, Hand polydactyly, Congenital finger flexion contractures, Brachydactyly |
OMIM:114150 |
| Olmsted Syndrome 1 |
|
Autoamputation of digits, Corneal opacity, Flexion contracture, Palmoplantar keratoderma, Opacifi... |
OMIM:614594 |
| Gm1-Gangliosidosis, Type Iii |
|
Hypoplastic acetabulae, Flared iliac wing, Pes cavus, Opacification of the corneal stroma |
OMIM:230650 |
| Teebi Hypertelorism Syndrome 2 |
|
Clinodactyly of the 5th finger, Syndactyly, Attention deficit hyperactivity disorder |
OMIM:619736 |
| Dyggve-Melchior-Clausen Disease |
|
Metaphyseal widening, Flat glenoid fossa, Short metatarsal, Tibial bowing, Femoral bowing, Narrow... |
OMIM:223800 |
| Complete Atrioventricular Septal Defect |
|
Abnormal EKG, Tachycardia, Left-to-right shunt, Failure to thrive, Right ventricular failure, Thi... |
ORPHA:1329 |
| Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Syndactyly, Enamel hypoplasia, Palmoplantar keratoderma |
OMIM:613576 |
| X-Linked Intellectual Disability, Cabezas Type |
|
Hyperactivity, Toe syndactyly, Sandal gap, Camptodactyly of finger, Down-sloping shoulders, Aggre... |
ORPHA:85293 |
| Poland Syndrome |
|
Syndactyly, Unilateral oligodactyly, Unilateral brachydactyly, Short ribs, Hypoplasia of deltoid ... |
OMIM:173800 |
| Desbuquois Dysplasia 2 |
|
Epiphyseal dysplasia, Short metacarpal, Pes planus, Single transverse palmar crease, Monkey wrenc... |
OMIM:615777 |
| Seckel Syndrome 1 |
|
Ivory epiphyses, 11 pairs of ribs, Hyperactivity, Pes planus, Sandal gap, Abnormal finger flexion... |
OMIM:210600 |
| Mucolipidosis Type Iv |
|
Abnormality of retinal pigmentation, Palmoplantar keratoderma, Corneal opacity, Genu recurvatum |
ORPHA:578 |
| Mucopolysaccharidosis Type 1 |
|
Inguinal hernia, Corneal opacity, Congestive heart failure, Split hand, Optic atrophy, Abnormal e... |
ORPHA:579 |
| Adams-Oliver Syndrome 6 |
|
Syndactyly, Tricuspid regurgitation, Portal hypertension, Foot oligodactyly, Brachydactyly |
OMIM:616589 |
| Congenital-Onset Steinert Myotonic Dystrophy |
|
Bundle branch block, Hyperactivity, Cataract, Talipes, First degree atrioventricular block, Obesi... |
ORPHA:589821 |
| Pfeiffer Syndrome Type 1 |
|
Broad hallux phalanx, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Short h... |
ORPHA:93258 |
| Silver-Russell Syndrome 3 |
|
Syndactyly, Small for gestational age, Elbow contracture, Small hand, Antecubital pterygium, Decr... |
OMIM:616489 |
| Mucopolysaccharidosis Type 7 |
|
Inguinal hernia, Corneal opacity, Metatarsus adductus, Epiphyseal stippling, Abnormal hip bone mo... |
ORPHA:584 |
| Microphthalmia, Isolated, With Coloboma 9 |
|
Retinal detachment, Macular coloboma, Sclerocornea, Microcornea, Ocular anterior segment dysgenes... |
OMIM:615145 |
| Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia |
|
Brachydactyly, Aplasia/Hypoplasia of the fibula, Split foot, Short phalanx of finger, Fibular apl... |
OMIM:113310 |
| Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive |
|
Right axis deviation, Elevated jugular venous pressure, Congestive heart failure, Dilated cardiom... |
OMIM:255160 |
| Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Prolonged QT interval, Dilated cardiomyopathy, Pigmentary retinopathy, Hypertrophic cardiomyopath... |
ORPHA:71212 |
| Hurler Syndrome |
|
Corneal opacity, Angina pectoris, Camptodactyly of finger, Abnormality of the elbow, Depression, ... |
ORPHA:93473 |
| Loeffler Endocarditis |
|
Aortic regurgitation, Pericarditis, Left ventricular diastolic dysfunction, Congestive heart fail... |
ORPHA:75566 |
| Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome |
|
Hypoplasia of the ulna, Finger syndactyly, Aplasia/Hypoplasia of the fibula, Micrognathia, Short ... |
ORPHA:2256 |
| Mucopolysaccharidosis, Type Vii |
|
Corneal opacity, Metatarsus adductus, Hypoplasia of the odontoid process, Flexion contracture, Ge... |
OMIM:253220 |
| Eem Syndrome |
|
Abnormality of retinal pigmentation, Finger syndactyly, Ectrodactyly |
ORPHA:1897 |
| Zellweger Syndrome |
|
Failure to thrive, Cataract, Corneal opacity, Micrognathia, Brushfield spots, Optic atrophy, Epip... |
ORPHA:912 |
| Atelis Syndrome 2 |
|
Pes planus, Remnants of the hyaloid vascular system, Single transverse palmar crease, Micrognathi... |
OMIM:620185 |
| Granular Corneal Dystrophy Type I |
|
Subepithelial corneal opacities, Abnormal corneal epithelium morphology, Central opacification of... |
ORPHA:98962 |
| Mucopolysaccharidosis Type 2 |
|
Papilledema, Hyperactivity, Abnormality of retinal pigmentation, Corneal opacity, Inguinal hernia... |
ORPHA:580 |
| Peroxisome Biogenesis Disorder 2A (Zellweger) |
|
Failure to thrive, Cataract, Single transverse palmar crease, Micrognathia, Brushfield spots, Met... |
OMIM:214110 |
| Microphthalmia, Isolated 2 |
|
Opacification of the corneal stroma |
OMIM:610093 |
| Microphthalmia, Lenz Type |
|
Finger syndactyly, Cataract, Camptodactyly of finger, Optic disc coloboma, Microcornea, Self-inju... |
ORPHA:568 |
| 6P22 Microdeletion Syndrome |
|
Finger syndactyly, Clinodactyly, Hernia |
ORPHA:251046 |
| Ichthyosis, X-Linked |
|
Palmar hyperlinearity, Palmoplantar keratoderma, Opacification of the corneal stroma |
OMIM:308100 |
| Schimmelpenning-Feuerstein-Mims Syndrome |
|
Abnormal toe morphology, Coloboma, Abnormal finger morphology, Corneal opacity |
OMIM:163200 |
| Duane-Radial Ray Syndrome |
|
Syndactyly, Hypoplasia of the ulna, Cataract, Radial deviation of the hand, Sandal gap, Short hum... |
OMIM:607323 |
| Fibrochondrogenesis 1 |
|
Omphalocele, Hypoplastic scapulae, Rhizomelia, Broad long bones, Dumbbell-shaped long bone, Hypop... |
OMIM:228520 |
| Autosomal Recessive Cutis Laxa Type 2A |
|
Pes planus, Inguinal hernia, Congenital hip dislocation, Corneal opacity, Abnormal cornea morphology |
ORPHA:357058 |
| Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Syndactyly, Polydactyly, Hernia |
OMIM:602501 |
| Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Myocardial infarction, Micrognathia, Dermatoglyphic ridges abnormal, Short 5th metacarpal, Hyperm... |
ORPHA:99413 |
| Mosaic Monosomy X |
|
Myocardial infarction, Micrognathia, Dermatoglyphic ridges abnormal, Short 5th metacarpal, Hyperm... |
ORPHA:99228 |
| Monosomy X |
|
Myocardial infarction, Micrognathia, Dermatoglyphic ridges abnormal, Short 5th metacarpal, Hyperm... |
ORPHA:99226 |
| Turner Syndrome |
|
Myocardial infarction, Micrognathia, Dermatoglyphic ridges abnormal, Short 5th metacarpal, Hyperm... |
ORPHA:881 |
| Fish-Eye Disease |
|
Angina pectoris, Corneal opacity |
ORPHA:79292 |
| Acheiropodia |
|
Short humerus, Aplasia of the ulna, Absent radius, Absent hand, Upper limb phocomelia, Abnormal e... |
ORPHA:931 |
| 16P11.2P12.2 Microdeletion Syndrome |
|
Microretrognathia, Hyperactivity, Tricuspid regurgitation, Toe syndactyly, Camptodactyly of finge... |
ORPHA:261211 |
| 17Q12 Microduplication Syndrome |
|
Self-injurious behavior, Toe syndactyly, Finger syndactyly |
ORPHA:261272 |
| Bardet-Biedl Syndrome 1 |
|
Syndactyly, Bone spicule pigmentation of the retina, Cataract, Postaxial polydactyly, Postaxial h... |
OMIM:209900 |
| Aplasia Cutis Congenita |
|
Finger syndactyly, Toe syndactyly |
ORPHA:1114 |
| Acro-Renal-Mandibular Syndrome |
|
Hypoplasia of the ulna, Finger syndactyly, Hypoplastic scapulae, Congenital diaphragmatic hernia,... |
ORPHA:958 |
| Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Omphalocele, Syndactyly, Micromelia, Postaxial polydactyly, Hypoplastic ilia, Hypoplasia of the r... |
OMIM:617895 |
| Acrofacial Dysostosis, RodrÃguez Type |
|
Microretrognathia, Finger syndactyly, Hand oligodactyly, Fibular hypoplasia, Radioulnar synostosi... |
ORPHA:1788 |
| Mandibulofacial Dysostosis With Macroblepharon And Macrostomia |
|
Keratitis, Micrognathia, Conjunctivitis, Corneal opacity |
OMIM:602562 |
| Naxos Disease |
|
Right ventricular cardiomyopathy, Prolonged QRS complex, Sudden cardiac death, Congestive heart f... |
OMIM:601214 |
| Cleft-Limb-Heart Malformation Syndrome |
|
Syndactyly |
OMIM:215850 |
| Adams-Oliver Syndrome |
|
Gastrointestinal hemorrhage, Finger syndactyly, Brachydactyly, Cataract, Talipes, Portal hyperten... |
ORPHA:974 |
| Lowry-Maclean Syndrome |
|
Inguinal hernia, Corneal opacity, Single transverse palmar crease, Congenital diaphragmatic herni... |
ORPHA:2409 |
| Macular Corneal Dystrophy |
|
Hyperopic astigmatism, Corneal crystals, Punctate opacification of the cornea, Recurrent corneal ... |
ORPHA:98969 |
| Saul-Wilson Syndrome |
|
Enlarged epiphyses, Short metacarpal, Cataract, Pseudoepiphyses of the metacarpals, Coxa valga, M... |
OMIM:618150 |
| Sanjad-Sakati Syndrome |
|
Corneal opacity, Abnormal dental enamel morphology, Micrognathia, Small hand, Short foot, Astigma... |
ORPHA:2323 |
| Cleft Palate, Cardiac Defects, And Impaired Intellectual Development |
|
Short 2nd finger, Broad hallux, Sandal gap, 2-3 toe syndactyly, Cutaneous syndactyly, Short 5th f... |
OMIM:600987 |
| Multiple Sulfatase Deficiency |
|
Broad hallux, Corneal opacity, Hypoplastic vertebral bodies, Broad thumb, Retinal degeneration |
OMIM:272200 |
| Bardet-Biedl Syndrome 6 |
|
Pigmentary retinopathy, Obesity, Postaxial polydactyly, Syndactyly |
OMIM:605231 |
| Charcot-Marie-Tooth Disease, Type 4B3 |
|
Pes planus, Syndactyly, Distal lower limb muscle weakness |
OMIM:615284 |
| Cousin Syndrome |
|
Micrognathia, Prominent protruding coccyx, Microcornea, Hypoplastic iliac wing, Clinodactyly of t... |
OMIM:260660 |
| Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome |
|
Aniridia, Developmental glaucoma, Corneal opacity, Micrognathia |
ORPHA:1064 |
| Oculodentodigital Dysplasia |
|
Micrognathia, Microcornea, Clinodactyly of the 5th finger, Finger syndactyly, Abnormal dental ena... |
ORPHA:2710 |
| Symptomatic Form Of Fragile X Syndrome In Female Carriers |
|
Pes planus, Hyperactivity, Aggressive behavior, Depression, Irritability, Self-injurious behavior... |
ORPHA:449291 |
| Myoclonic-Astatic Epilepsy |
|
Syndactyly, Hyperactivity, Abnormal emotion, Attention deficit hyperactivity disorder |
ORPHA:1942 |
| Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1 |
|
Proximal radio-ulnar synostosis, Syndactyly, Radial bowing, Ulnar bowing, Hip dislocation, Clinod... |
OMIM:605432 |
| Familial Dysautonomia |
|
Orthostatic hypotension, Tachycardia, Corneal opacity, Abnormal pupil morphology, Corneal erosion... |
ORPHA:1764 |
| Gorlin-Chaudhry-Moss Syndrome |
|
Sclerocornea, Abnormal foot morphology, Astigmatism, Abnormal metacarpal morphology, Umbilical he... |
ORPHA:2095 |
| Sialidosis Type 1 |
|
Cataract, Corneal opacity, Hernia |
ORPHA:812 |
| Alpha-Mannosidosis, Infantile Form |
|
Aortic regurgitation, Optic disc pallor, Cataract, Corneal opacity, Depression, Genu valgum, Cort... |
ORPHA:309282 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
|
Retinal detachment, Cataract, Corneal opacity, Retinal atrophy, Optic nerve hypoplasia, Micrognat... |
OMIM:236670 |
| Drug-Induced Lupus Erythematosus |
|
Pericarditis, Prolonged QTc interval |
ORPHA:231111 |
| Fish-Eye Disease |
|
Opacification of the corneal stroma |
OMIM:136120 |
| Oculoauricular Syndrome |
|
Retinal detachment, Cataract, Short mandibular rami, Sclerocornea, Developmental cataract, Microc... |
OMIM:612109 |
| Silver-Russell Syndrome 1 |
|
Syndactyly, Small for gestational age, Micrognathia, Abnormal foot morphology, Short distal phala... |
OMIM:180860 |
| Chromosome 8Q21.11 Deletion Syndrome |
|
Syndactyly, Short metacarpal, Cataract, Sclerocornea, Micrognathia, Pigmentary retinopathy, Campt... |
OMIM:614230 |
| Ritscher-Schinzel Syndrome 1 |
|
Syndactyly, Micrognathia, Missing ribs, Coloboma, Pulmonic stenosis, Aortic valve stenosis |
OMIM:220210 |
| Mosaic Trisomy 8 |
|
Corneal opacity, Camptodactyly of finger, Micrognathia, Patellar aplasia, Narrow pelvis bone, Dee... |
ORPHA:96061 |
| De Barsy Syndrome |
|
Inguinal hernia, Congenital hip dislocation, Cataract, Corneal opacity, Lipodystrophy, Coxa vara,... |
ORPHA:2962 |
| Hamamy Syndrome |
|
Long toe, Syndactyly, Inguinal hernia, Prolonged QRS complex, Down-sloping shoulders, Tapered fin... |
OMIM:611174 |
| Verloove Vanhorick-Brubakk Syndrome |
|
Finger syndactyly, Tarsal synostosis, Micrognathia, Abnormal femur morphology, Abnormal pelvic gi... |
ORPHA:3429 |
| Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Finger syndactyly, Inguinal hernia, Overlapping fingers, Overlapping toe, Single transverse palma... |
ORPHA:464738 |
| Gelatinous Drop-Like Corneal Dystrophy |
|
Subepithelial corneal opacities, Conjunctival amyloidosis, Corneal neovascularization, Central op... |
ORPHA:98957 |
| Ring Chromosome 21 Syndrome |
|
Syndactyly, Clinodactyly, Small hand, Narrow palm |
ORPHA:1445 |
| Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
Syndactyly, Brachydactyly, Hypoplastic scapulae, Bowing of the long bones, Micromelia, Postaxial ... |
OMIM:614091 |
| Atelosteogenesis, Type I |
|
Micrognathia, Short metatarsal, Tibial bowing, Knee dislocation, Vertebral hypoplasia, Short meta... |
OMIM:108720 |
| Thyrotoxic Periodic Paralysis |
|
Prolonged QT interval, Shortened PR interval, Obesity, Weight loss, Impaired myocardial contracti... |
ORPHA:79102 |
| Corneal Endothelial Dystrophy |
|
Abnormal Descemet membrane morphology, Increased corneal thickness, Corneal dystrophy, Opacificat... |
OMIM:217700 |
| Oculo-Palato-Cerebral Syndrome |
|
Retinal detachment, Cataract, Remnants of the hyaloid vascular system, Small hand, Leukocoria, Sh... |
ORPHA:2714 |
| Larsen Syndrome |
|
Short metacarpal, Corneal opacity, Spatulate thumbs, Elbow dislocation, Talipes equinovalgus, Dis... |
OMIM:150250 |
| Atopic Keratoconjunctivitis |
|
Corneal opacity, Keratitis, Keratoconjunctivitis sicca, Chemosis, Corneal neovascularization |
ORPHA:163934 |
| Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly |
|
Syndactyly, Postaxial polydactyly, Preaxial polydactyly, Femoral bowing, Short long bone, Acetabu... |
OMIM:615503 |
| Mohr Syndrome |
|
Syndactyly, Micrognathia, Preaxial hand polydactyly, Postaxial hand polydactyly, Flared metaphysi... |
OMIM:252100 |
| Schizophrenia 1 |
|
Syndactyly, Short proximal phalanx of the 4th toe |
OMIM:181510 |
| Multiple Pterygium Syndrome, Escobar Variant |
|
Multiple joint contractures, Congenital diaphragmatic hernia, Micrognathia, Flexion contracture, ... |
OMIM:265000 |
| 45,X/46,Xy Mixed Gonadal Dysgenesis |
|
Prolonged QT interval, Hallux valgus, Tachycardia, Micrognathia, Developmental glaucoma, Short me... |
ORPHA:1772 |
| Yunis-Varon Syndrome |
|
Aplasia of the distal phalanges of the hand, Single transverse palmar crease, Sclerocornea, Micro... |
ORPHA:3472 |
| 19Q13.11 Microdeletion Syndrome |
|
Finger syndactyly, Cataract, Congenital hip dislocation, Toe syndactyly, Cachexia, Microcornea, T... |
ORPHA:217346 |
| Fg Syndrome Type 1 |
|
Finger syndactyly, Limited elbow extension and supination, Broad toe, Inguinal hernia, Single tra... |
ORPHA:93932 |
| Dermochondrocorneal Dystrophy |
|
Subepithelial corneal opacities, Corneal dystrophy, Abnormality of the hand, Anterior cortical ca... |
OMIM:221800 |
| Craniosynostosis, Herrmann-Opitz Type |
|
Finger syndactyly, Micromelia, Micrognathia, Split hand, Brachydactyly |
ORPHA:2145 |
| Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly |
|
Microretrognathia, Single transverse palmar crease, 2-3 toe syndactyly, Cutaneous syndactyly, Tal... |
OMIM:236500 |
| Neurofibromatosis Type 1 |
|
Abnormality of retinal pigmentation, Cataract, Corneal opacity, Genu valgum, Hypertension, Slende... |
ORPHA:636 |
| Fbln1-Related Developmental Delay-Central Nervous System Anomaly-Syndactyly Syndrome |
|
Macular degeneration, Congenital bilateral hip dislocation, Syndactyly |
ORPHA:404451 |
| Atrial Standstill 2 |
|
Atrial cardiomyopathy, Absent P wave, Scarring, Atrial standstill, Cardiomyopathy, Bradycardia, P... |
OMIM:615745 |
| Chromosome 13Q33-Q34 Deletion Syndrome |
|
Hyperactivity, Overlapping toe, Single transverse palmar crease, Small for gestational age, Aggre... |
OMIM:619148 |
| Oculocerebral Hypopigmentation Syndrome, Cross Type |
|
Inguinal hernia, Cataract, Arachnodactyly, Corneal opacity, Abnormal thumb morphology, Ocular alb... |
ORPHA:2719 |
| Mosaic Trisomy 9 |
|
Corneal opacity, Rocker bottom foot, Micromelia, Camptodactyly of finger, Elbow dislocation, Micr... |
ORPHA:99776 |
| Mucolipidosis Ii Alpha/Beta |
|
Micrognathia, Metaphyseal widening, Megalocornea, Hypoplasia of the odontoid process, Split hand,... |
OMIM:252500 |
| Gomez-Lopez-Hernandez Syndrome |
|
Self-injurious behavior, Hyperactivity, Opacification of the corneal stroma, Depression |
OMIM:601853 |
| Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects |
|
Aplasia of the distal phalanx of the 2nd finger, 2-5 finger syndactyly, Syndactyly, Congenital hi... |
OMIM:308050 |
| Pseudohypoparathyroidism Type 2 |
|
Prolonged QT interval |
ORPHA:94090 |
| Spondyloepiphyseal Dysplasia Tarda, X-Linked |
|
Coxa vara, Hypoplasia of the capital femoral epiphysis, Irregular epiphyses, Short femoral neck, ... |
OMIM:313400 |
| Mucopolysaccharidosis Type 6 |
|
Epiphyseal dysplasia, Genu valgum, Hernia, Opacification of the corneal stroma, Abnormal metaphys... |
ORPHA:583 |
| Pfeiffer Syndrome |
|
Finger syndactyly, Syndactyly, Shortening of all middle phalanges of the fingers, Broad hallux, H... |
OMIM:101600 |
| Amoebic Keratitis |
|
Iris atrophy, Cataract, Abnormal corneal epithelium morphology, Abnormal anterior chamber morphol... |
ORPHA:67043 |
| Mucopolysaccharidosis, Type Iva |
|
Inguinal hernia, Ulnar deviation of the wrist, Coxa valga, Epiphyseal deformities of tubular bone... |
OMIM:253000 |
| Alkuraya-Kucinskas Syndrome |
|
Cataract, Overlapping toe, Micrognathia, Abnormal foot morphology, Cutaneous syndactyly, Talipes ... |
OMIM:617822 |
| Epidermolysis Bullosa, Lethal Acantholytic |
|
Syndactyly, Sandal gap, Widely spaced toes, Mitten deformity, Clinodactyly of the 5th finger, Tap... |
OMIM:609638 |
| Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome |
|
Finger syndactyly, Toe syndactyly, Short hallux, Truncal obesity, Abnormal metacarpal morphology,... |
ORPHA:3224 |
| Linear Skin Defects With Multiple Congenital Anomalies 3 |
|
Cardiac arrest, Sclerocornea, Dilated cardiomyopathy, Ventricular tachycardia, Histiocytoid cardi... |
OMIM:300952 |
| Roberts Syndrome |
|
Aplasia/Hypoplasia of the thumb, Proximal placement of thumb, Micrognathia, Knee flexion contract... |
ORPHA:3103 |
| Prader-Willi Syndrome |
|
Syndactyly, Failure to thrive in infancy, Acromicria, Small hand, Narrow palm, Obesity, Genu valg... |
OMIM:176270 |
| Friedreich Ataxia |
|
Abnormal EKG, Congestive heart failure, Optic atrophy, Areflexia of lower limbs, Hypertrophic car... |
OMIM:229300 |
| Omodysplasia 2 |
|
Short humerus, Micrognathia, Fibular hypoplasia, Limited elbow flexion/extension, Hypoplastic dis... |
OMIM:164745 |
| Limb Body Wall Complex |
|
Ventral hernia, Duplication of hand bones, Corneal opacity, Broad hallux, Aplasia/hypoplasia invo... |
ORPHA:2369 |
| Al Amyloidosis |
|
Gastrointestinal hemorrhage, Abnormal EKG, Jaw claudication, Weight loss, Reduced left ventricula... |
ORPHA:85443 |
| Cohen Syndrome |
|
Abnormality of retinal pigmentation, Finger syndactyly, Arachnodactyly, Sandal gap, Failure to th... |
ORPHA:193 |
| Chime Syndrome |
|
Corneal opacity, Aplastic clavicle, Aplasia/Hypoplasia of the phalanges of the hand, Hip dislocat... |
ORPHA:3474 |
| Norrie Disease |
|
Retinal detachment, Aplasia/Hypoplasia of the lens, Corneal opacity, Cataract, Sclerocornea, Ecto... |
ORPHA:649 |
| Tarp Syndrome |
|
Single transverse palmar crease, Rocker bottom foot, Postaxial polydactyly, Micrognathia, Hypopla... |
OMIM:311900 |
| 3C Syndrome |
|
Finger syndactyly, Inguinal hernia, Micrognathia, Missing ribs, Optic atrophy, Hand polydactyly, ... |
ORPHA:7 |
| Acrorenal-Mandibular Syndrome |
|
Hypoplasia of the ulna, Toe syndactyly, Hypoplastic scapulae, Congenital diaphragmatic hernia, Mi... |
OMIM:200980 |
| Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Hypoplasia of the ulna, Early ossification of capital femoral epiphyses, Cone-shaped epiphyses of... |
OMIM:208500 |
| Tbck-Related Intellectual Disability Syndrome |
|
11 pairs of ribs, Broad toe, Corneal opacity, 2-3 toe syndactyly, Pulmonic stenosis, Broad finger... |
ORPHA:488632 |
| Fibular Dimelia-Diplopodia Syndrome |
|
Absent tibia |
ORPHA:1757 |
| Neuroocular Syndrome |
|
Hyperextensibility of the finger joints, Scapular winging, Cataract, Remnants of the hyaloid vasc... |
OMIM:619539 |
| Tibial Hemimelia |
|
Absent tibia |
OMIM:275220 |
| Kindler Epidermolysis Bullosa |
|
Finger syndactyly, Corneal opacity, Camptodactyly of finger, Abnormal dental enamel morphology, F... |
ORPHA:2908 |
| Osteogenesis Imperfecta |
|
Micromelia, Micrognathia, Abnormal tibia morphology, Flexion contracture, Abnormal femur morpholo... |
ORPHA:666 |
| Stromme Syndrome |
|
Cataract, Optic nerve hypoplasia, Sclerocornea, Micrognathia, Preaxial polydactyly, Microcornea, ... |
OMIM:243605 |
| Alternating Hemiplegia Of Childhood |
|
Skewfoot, Anorexia, Aggressive behavior, Oral-pharyngeal dysphagia, Impulsivity, Cardiac conducti... |
ORPHA:2131 |
| Pfeiffer Syndrome |
|
Finger syndactyly, Brachydactyly, Symphalangism affecting the phalanges of the hand, Hip dysplasi... |
ORPHA:710 |
| Smith-Lemli-Opitz Syndrome |
|
Sclerocornea, Proximal placement of thumb, Congenital diaphragmatic hernia, Micrognathia, Talipes... |
ORPHA:818 |
| Hennekam Lymphangiectasia-Lymphedema Syndrome 2 |
|
Syndactyly, Camptodactyly |
OMIM:616006 |
| Fucosidosis |
|
Lipoatrophy, Failure to thrive, Corneal opacity |
ORPHA:349 |
| Reese Retinal Dysplasia |
|
Remnants of the hyaloid vascular system, Retinal dysplasia |
OMIM:266400 |
| Otopalatodigital Syndrome Type 2 |
|
Omphalocele, Bowing of the long bones, Cataract, Tarsal synostosis, Short hallux, Camptodactyly o... |
ORPHA:90652 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 |
|
Retinal detachment, Cataract, Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Re... |
OMIM:614643 |
| Joubert Syndrome 33 |
|
Syndactyly |
OMIM:617767 |
| Congenital Disorder Of Deglycosylation 1 |
|
Restlessness, Corneal opacity, Single transverse palmar crease, Oral-pharyngeal dysphagia, Small ... |
OMIM:615273 |
| Schimke Immunoosseous Dysplasia |
|
Transient ischemic attack, Small for gestational age, Hypoplasia of the capital femoral epiphysis... |
OMIM:242900 |
| Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Cataract, Single transverse palmar crease, Sclerocornea, Congenital diaphragmatic hernia, Junctio... |
OMIM:309801 |
| Osteofibrous Dysplasia, Susceptibility To |
|
Pseudoarthrosis, Fibular hypoplasia |
OMIM:607278 |
| Microphthalmia, Syndromic 2 |
|
Retinal detachment, Remnants of the hyaloid vascular system, Broad hallux, Sandal gap, 2-3 toe cu... |
OMIM:300166 |
| Congenitally Uncorrected Transposition Of The Great Arteries |
|
Tachycardia, Small for gestational age, Cardiac shunt, Congestive heart failure, Left ventricular... |
ORPHA:860 |
| Xp22.3 Microdeletion Syndrome |
|
Opacification of the corneal stroma |
ORPHA:1643 |
| Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Optic disc pallor, Cataract, Ulnar deviation of the hand, Single transverse palmar crease, Rocker... |
OMIM:214100 |
| Short Stature With Microcephaly And Distinctive Facies |
|
Microretrognathia, Syndactyly, Short digit, Small for gestational age, Proximal placement of thum... |
OMIM:615789 |
| Orofaciodigital Syndrome Vi |
|
11 pairs of ribs, Brachydactyly, Toe syndactyly, Short femur, Mesoaxial hand polydactyly, Postaxi... |
OMIM:277170 |
| Ritscher-Schinzel Syndrome 2 |
|
Syndactyly, Broad hallux, Overlapping toe, Camptodactyly of finger, Clinodactyly of the 5th finge... |
OMIM:300963 |
| Endocrine-Cerebroosteodysplasia |
|
Syndactyly, Bowed forearm bones, Ulnar deviation of the hand, Sandal gap, Single transverse palma... |
OMIM:612651 |
| Scheie Syndrome |
|
Aortic regurgitation, Corneal opacity |
ORPHA:93474 |
| Rutherfurd Syndrome |
|
Corneal dystrophy, Opacification of the corneal stroma |
OMIM:180900 |
| Oculocerebrorenal Syndrome Of Lowe |
|
Micrognathia, Abnormal pupil morphology, Lentiglobus, Compulsive behaviors, Abnormal repetitive m... |
ORPHA:534 |
| 3Mc Syndrome 3 |
|
Preaxial polydactyly, Clinodactyly, Corneal opacity, Radioulnar synostosis |
OMIM:248340 |
| Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Micrognathia, Coloboma, Compulsive behaviors, Abnormal repetitive mannerisms, Syndactyly, Hyperac... |
ORPHA:353284 |
| Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Micrognathia, Coloboma, Compulsive behaviors, Abnormal repetitive mannerisms, Syndactyly, Hyperac... |
ORPHA:353277 |
| Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects |
|
Syndactyly, Single transverse palmar crease, 2-3 toe syndactyly, Coxa vara, Radioulnar synostosis... |
OMIM:614701 |
| Bardet-Biedl Syndrome |
|
Finger syndactyly, Postaxial hand polydactyly, Obesity, Hypertension, Pigmentary retinopathy |
ORPHA:110 |
| Postaxial Acrofacial Dysostosis |
|
Hypoplasia of the ulna, Finger syndactyly, Camptodactyly of finger, Micrognathia, Hypoplasia of t... |
ORPHA:246 |
| Choroidal Atrophy-Alopecia Syndrome |
|
Abnormality of retinal pigmentation, Finger syndactyly, Patchy atrophy of the retinal pigment epi... |
ORPHA:1433 |
| Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly |
|
Syndactyly, Broad hallux, Single transverse palmar crease, Micromelia, Sandal gap, Optic atrophy,... |
OMIM:614800 |
| Mend Syndrome |
|
Microretrognathia, Hyperactivity, Cataract, Broad hallux, Overlapping toe, Failure to thrive, Mic... |
OMIM:300960 |
| Blepharonasofacial Malformation Syndrome |
|
Finger syndactyly, Inguinal hernia, Optic atrophy |
ORPHA:1252 |
| Pfeiffer Syndrome Type 2 |
|
Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Short hallux, Hallux varus, Small hand, ... |
ORPHA:93259 |
| Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence |
|
Syndactyly, Proximal placement of thumb, Micrognathia, Cardiomyopathy, Hernia, Short palm, Clinod... |
OMIM:217980 |
| Lacrimoauriculodentodigital Syndrome |
|
Micrognathia, Abnormal digit morphology, Syndactyly, Finger syndactyly, Increased corneal thickne... |
ORPHA:2363 |
| Opitz-Kaveggia Syndrome |
|
Syndactyly, Inguinal hernia, Multiple joint contractures, Broad hallux, Single transverse palmar ... |
OMIM:305450 |
| Acromelic Frontonasal Dysplasia |
|
Midline central nervous system lipomas, Patellar hypoplasia, Talipes equinovarus, Preaxial foot p... |
ORPHA:1827 |
| Ectodermal Dysplasia-Blindness Syndrome |
|
Cataract, Corneal dystrophy, Sclerocornea, Microcornea, Keratoconjunctivitis sicca |
ORPHA:1806 |
| Bohring-Opitz Syndrome |
|
Syndactyly, Overlapping toe, Ulnar deviation of the wrist, Tapered finger, Mesomelic/rhizomelic l... |
OMIM:605039 |
| Kyphomelic Dysplasia |
|
Short humerus, Short metacarpal, Radial bowing, Short femur, Bowed humerus, Micromelia, Micrognat... |
OMIM:211350 |
| Bartsocas-Papas Syndrome 1 |
|
Micrognathia, Flexion contracture, Hypoplastic iliac wing, Pterygium, Short phalanx of finger, Sy... |
OMIM:263650 |
| Fryns Syndrome |
|
Omphalocele, Corneal opacity, Congenital diaphragmatic hernia, Micrognathia, Clinodactyly of the ... |
ORPHA:2059 |
| Mucopolysaccharidosis Type 2, Severe Form |
|
Papilledema, Abnormality of retinal pigmentation, Inguinal hernia, Corneal opacity, Camptodactyly... |
ORPHA:217085 |
| Adams-Oliver Syndrome 5 |
|
Syndactyly, Inguinal hernia, Umbilical hernia, Pulmonic stenosis, Pulmonary arterial hypertension... |
OMIM:616028 |
| Mend Syndrome |
|
Hyperactivity, Cataract, Broad hallux, Overlapping toe, Aggressive behavior, Micrognathia, Long f... |
ORPHA:401973 |
| Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Aortic regurgitation, Tricuspid regurgitation, Cataract, Single transverse palmar crease, Small f... |
OMIM:614866 |
| Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies |
|
Long toe, Omphalocele, Overlapping toe, Long fingers, Cutaneous syndactyly, Overlapping fingers |
OMIM:618316 |
| Aniridia 1 |
|
Anterior subcapsular cataract, Cataract, Optic nerve hypoplasia, Ectopia lentis, Corneal erosion,... |
OMIM:106210 |
| Intellectual Disability-Brachydactyly-Pierre Robin Syndrome |
|
Corneal opacity, Aplasia of the distal phalanx of the 5th toe, Aplasia of the distal phalanx of t... |
ORPHA:364577 |
| Yunis-Varon Syndrome |
|
Congenital hip dislocation, Single transverse palmar crease, Sclerocornea, Micrognathia, Short me... |
OMIM:216340 |
| Neurodevelopmental Disorder With Coarse Facies And Mild Distal Skeletal Abnormalities |
|
Clinodactyly of the 5th finger, Syndactyly, Hyperactivity, Broad palm |
OMIM:618505 |
| Acrofrontofacionasal Dysostosis 2 |
|
Syndactyly, Hand polydactyly, Broad hallux, Broad thumb |
OMIM:239710 |
| Mucopolysaccharidosis Type 2, Attenuated Form |
|
Papilledema, Abnormality of retinal pigmentation, Inguinal hernia, Corneal opacity, Camptodactyly... |
ORPHA:217093 |
| Pili Torti-Onychodysplasia Syndrome |
|
Keloids, Conjunctival hyperemia, Palmoplantar keratoderma, Cutaneous syndactyly |
ORPHA:2890 |
| Microphthalmia With Linear Skin Defects Syndrome |
|
Abnormality of retinal pigmentation, Failure to thrive, Tricuspid regurgitation, Corneal opacity,... |
ORPHA:2556 |
| Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Coloboma, Compulsive behaviors, Abnormal repetitive mannerisms, Hyperactivity, Broad hallux, Obes... |
ORPHA:353281 |
| Cantú Syndrome |
|
Finger syndactyly, Broad hallux phalanx, Short hallux, Coxa valga, Deep plantar creases, Umbilica... |
ORPHA:1517 |
| Roberts-Sc Phocomelia Syndrome |
|
Micrognathia, Tetraphocomelia, Knee flexion contracture, Coloboma, Phocomelia, Wrist flexion cont... |
OMIM:268300 |
| Anterior Segment Dysgenesis 1 |
|
Microcornea, Opacification of the corneal stroma, Peters anomaly, Posterior polar cataract, Ocula... |
OMIM:107250 |
| Filippi Syndrome |
|
Enlarged epiphyses, Finger syndactyly, Optic atrophy, Clinodactyly of the 5th finger, Clinodactyl... |
ORPHA:3255 |
| Methylcobalamin Deficiency Type Cble |
|
Hypertension, Clinodactyly, Failure to thrive, Syndactyly |
ORPHA:2169 |
| Congenital Aortic Valve Stenosis |
|
Angina pectoris, Sudden cardiac death, Increased QRS voltage, Heart murmur, Abnormal left ventric... |
ORPHA:3093 |
| Pierson Syndrome |
|
Retinal detachment, Rieger anomaly, Cataract, Hypoplasia of the ciliary body, Remnants of the hya... |
OMIM:609049 |
| Orofaciodigital Syndrome X |
|
Preaxial hand polydactyly, Coalescence of tarsal bones, Hand oligodactyly, Fibular aplasia |
OMIM:165590 |
| Hutchinson-Gilford Progeria Syndrome |
|
Myocardial infarction, Micrognathia, Intracranial hemorrhage, Limitation of movement at ankles, R... |
ORPHA:740 |
| Jacobsen Syndrome |
|
Broad hallux phalanx, Finger syndactyly, Cataract, Toe syndactyly, Inguinal hernia, Pes planus, T... |
ORPHA:2308 |
| Peters Plus Syndrome |
|
Inguinal hernia, Cataract, Corneal opacity, Toe syndactyly, Micromelia, Rhizomelia, Micrognathia,... |
ORPHA:709 |
| Triploidy |
|
Omphalocele, Finger syndactyly, Cataract, Micrognathia, Iris coloboma |
ORPHA:3376 |
| Acrofacial Dysostosis, Catania Type |
|
Microretrognathia, Finger syndactyly, Brachydactyly, Inguinal hernia, Small hand, Short palm, Cli... |
ORPHA:1786 |
| Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome |
|
Finger syndactyly, Abnormal dental enamel morphology, Abnormality of the elbow, Hip dislocation, ... |
ORPHA:1005 |
| Galloway-Mowat Syndrome 1 |
|
Cataract, Small for gestational age, Hiatus hernia, Micrognathia, Optic atrophy, Hypoplasia of th... |
OMIM:251300 |
| Acrocardiofacial Syndrome |
|
Hallux valgus, Finger syndactyly, Toe syndactyly, Camptodactyly of finger, Split hand, Split foot... |
ORPHA:2008 |
| Craniodigital-Intellectual Disability Syndrome |
|
Finger syndactyly, Micrognathia |
ORPHA:1514 |
| Meckel Syndrome 14 |
|
Microretrognathia, Syndactyly, Bowing of the long bones, Tricuspid regurgitation, Talipes, Postax... |
OMIM:619879 |
| Encephalocraniocutaneous Lipomatosis |
|
Sclerocornea, Hypoplasia of the iris, Lipoma, Limbal dermoid, Multiple central nervous system lip... |
OMIM:613001 |
| Wolf-Hirschhorn Syndrome |
|
Hypoplastic pubic ramus, Arachnodactyly, Short hallux, Sclerocornea, Congenital diaphragmatic her... |
ORPHA:280 |
| Ichthyosis, Congenital, Autosomal Recessive 11 |
|
Corneal opacity |
OMIM:602400 |
| Williams Syndrome |
|
Myocardial infarction, Micrognathia, Compulsive behaviors, Clinodactyly of the 5th finger, Megalo... |
ORPHA:904 |
| Goldberg-Shprintzen Megacolon Syndrome |
|
Finger syndactyly, Iris coloboma |
ORPHA:66629 |
| Legius Syndrome |
|
Hyperactivity, Cataract, Paroxysmal atrial tachycardia, Diaphyseal dysplasia, Lisch nodules, Mult... |
ORPHA:137605 |
| Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits |
|
Syndactyly, Clinodactyly |
OMIM:618087 |
| Hydrolethalus Syndrome 1 |
|
Omphalocele, Micrognathia, Preaxial hand polydactyly, Postaxial hand polydactyly, Duplication of ... |
OMIM:236680 |
| Cerebellar-Facial-Dental Syndrome |
|
Inguinal hernia, Cataract, Foot joint contracture, Single transverse palmar crease, Tapered finge... |
ORPHA:444072 |
| Dextrocardia |
|
Congenital hip dislocation, Abnormal EKG, T-wave inversion, Abnormal foot morphology |
ORPHA:1666 |
| X Small Rings |
|
Toe syndactyly, Tapered finger, 2-3 toe syndactyly, Upper limb undergrowth, Cutaneous syndactyly,... |
ORPHA:96201 |
| Autosomal Dominant Cutis Laxa |
|
Aortic regurgitation, Pes planus, Inguinal hernia, Corneal opacity, Genu recurvatum, Congestive h... |
ORPHA:90348 |
| Apert Syndrome |
|
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Micromelia, Corneal erosion, ... |
ORPHA:87 |
| Grange Syndrome |
|
Syndactyly, Renovascular hypertension, Finger clinodactyly, Decreased body weight, Brachydactyly |
OMIM:602531 |
| Lathosterolosis |
|
Toe syndactyly, Cataract, Talipes, Micrognathia, Postaxial hand polydactyly, Microcornea, Postaxi... |
ORPHA:46059 |
| Encephalocraniocutaneous Lipomatosis |
|
Corneal opacity, Lipodystrophy, Multiple lipomas, Pulmonary arterial hypertension, Aortic valve s... |
ORPHA:2396 |
| Cerebrofacioarticular Syndrome |
|
Syndactyly, Micrognathia, Self-injurious behavior, Talipes equinovarus, Pulmonic stenosis, Campto... |
ORPHA:314679 |
| Otopalatodigital Syndrome, Type Ii |
|
Congenital hip dislocation, Elbow contracture, Micrognathia, Short metatarsal, Femoral bowing, Ti... |
OMIM:304120 |
| Phocomelia, Schinzel Type |
|
Bowing of the long bones, Radial bowing, Talipes, Micromelia, Aplasia of the ulna, Micrognathia, ... |
ORPHA:2879 |
| Cockayne Syndrome B |
|
Reduced subcutaneous adipose tissue, Small for gestational age, Optic atrophy, Ivory epiphyses of... |
OMIM:133540 |
| Polysyndactyly With Cardiac Malformation |
|
Preaxial hand polydactyly, Syndactyly, Duplication of phalanx of hallux |
OMIM:263630 |
| Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome |
|
Finger syndactyly, Toe syndactyly, Arachnodactyly, Short palm |
ORPHA:73246 |
| Lcat Deficiency |
|
Corneal opacity |
ORPHA:650 |
| Charge Syndrome |
|
Omphalocele, Hypoplasia of the ulna, Cataract, Down-sloping shoulders, Abnormal palmar dermatogly... |
OMIM:214800 |
| Multiple Pterygium-Malignant Hyperthermia Syndrome |
|
Finger syndactyly, Inguinal hernia, Arachnodactyly, Long palm, Camptodactyly of finger, Tapered f... |
ORPHA:2215 |
| Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome |
|
Corneal opacity, Corneal dystrophy, Optic nerve hypoplasia, Aggressive behavior, Micrognathia, Bu... |
ORPHA:495875 |
| Blepharocheilodontic Syndrome 2 |
|
Cutaneous syndactyly |
OMIM:617681 |
| Kbg Syndrome |
|
Finger clinodactyly, Single transverse palmar crease, Cutaneous syndactyly |
ORPHA:2332 |
| Chronic Thromboembolic Pulmonary Hypertension |
|
Cardiac shunt, Pulmonary embolism, Right ventricular failure, Increased pulmonary vascular resist... |
ORPHA:70591 |
| Rubinstein-Taybi Syndrome 1 |
|
Plantar crease between first and second toes, Single transverse palmar crease, Micrognathia, Flex... |
OMIM:180849 |
| Cardiac Diverticulum |
|
Omphalocele, Abnormal EKG, Mitral stenosis, Angina pectoris, Tricuspid stenosis, Aplasia/Hypoplas... |
ORPHA:1686 |
| Orofaciodigital Syndrome Type 6 |
|
Syndactyly, Mesoaxial polydactyly, Micrognathia, Central Y-shaped metacarpal, Preaxial polydactyl... |
ORPHA:2754 |
| Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
11 pairs of ribs, Iris coloboma, Sclerocornea |
ORPHA:77298 |
| Camptodactyly-Joint Contractures-Facial Skeletal Defects Syndrome |
|
Finger syndactyly, Camptodactyly of finger, Micrognathia, Abnormal hip bone morphology, Synostosi... |
ORPHA:1323 |
| Pfeiffer Syndrome Type 3 |
|
Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Short hallux, Hallux varus, Small hand, ... |
ORPHA:93260 |
| Dubowitz Syndrome |
|
Syndactyly, Hyperactivity, Inguinal hernia, Pes planus, Single transverse palmar crease, Microgna... |
OMIM:223370 |
| Rodrigues Blindness |
|
Microcornea, Sclerocornea |
OMIM:268320 |
| Cockayne Syndrome A |
|
Reduced subcutaneous adipose tissue, Hip contracture, Cataract, Retinal atrophy, Retinal pigment ... |
OMIM:216400 |
| Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency |
|
Syndactyly, Failure to thrive, Umbilical hernia, Large for gestational age |
OMIM:614520 |
| Anemia, Congenital Dyserythropoietic, Type Ib |
|
Syndactyly |
OMIM:615631 |
| Blepharocheilodontic Syndrome 1 |
|
Clinodactyly, Cutaneous syndactyly |
OMIM:119580 |
| White Forelock With Malformations |
|
Clinodactyly of the 5th finger, Finger syndactyly |
ORPHA:2475 |
| Tyrosinemia Type 2 |
|
Palmoplantar keratoderma, Corneal opacity |
ORPHA:28378 |
| Cutis Marmorata Telangiectatica Congenita |
|
Retinal detachment, Finger syndactyly, Toe syndactyly, Telangiectasia of the skin, Micrognathia, ... |
ORPHA:1556 |
| Pseudo-Torch Syndrome 1 |
|
Microretrognathia, Cataract, Opacification of the corneal stroma, Umbilical hernia, Failure to th... |
OMIM:251290 |
| Microphthalmia, Syndromic 16 |
|
Sclerocornea |
OMIM:611038 |
| Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome |
|
Abnormality of retinal pigmentation, Finger syndactyly, Cachexia, Anorexia, Genu varum |
ORPHA:1969 |
| Poland Syndrome |
|
Aplasia/Hypoplasia of the thumb, Congenital diaphragmatic hernia, Aplasia of the pectoralis major... |
ORPHA:2911 |
| Scalp-Ear-Nipple Syndrome |
|
Finger syndactyly, Cataract, Congestive heart failure, 3-4 finger cutaneous syndactyly, 2-3 toe s... |
OMIM:181270 |
| Rhombencephalosynapsis |
|
Microretrognathia, Finger syndactyly, Septo-optic dysplasia, Polydactyly, Complete duplication of... |
ORPHA:59315 |
| Amyloidosis Of Gingiva And Conjunctiva With Impaired Intellectual Development |
|
Opacification of the corneal stroma |
OMIM:204850 |
| Sclerosteosis 1 |
|
Papilledema, Syndactyly, Optic atrophy, 2-3 finger syndactyly, Deviation of finger, Abnormal pelv... |
OMIM:269500 |
| Apert Syndrome |
|
Syndactyly, Finger syndactyly, Limited elbow movement, Preaxial hand polydactyly, Delayed epiphys... |
OMIM:101200 |
| Tangier Disease |
|
Myocardial infarction, Opacification of the corneal stroma |
OMIM:205400 |
| Oculopalatocerebral Syndrome |
|
Remnants of the hyaloid vascular system, Leukocoria |
OMIM:257910 |
| Campomelic Dysplasia |
|
Anterior tibial bowing, Micrognathia, Delayed epiphyseal ossification, Patellar hypoplasia, Femor... |
OMIM:114290 |
| Campomelic Dysplasia |
|
11 pairs of ribs, Bowing of the long bones, Small abnormally formed scapulae, Micrognathia, Hip d... |
ORPHA:140 |
| Axenfeld-Rieger Syndrome, Type 2 |
|
Inguinal hernia, Microcornea, Opacification of the corneal stroma, Umbilical hernia, Anterior cha... |
OMIM:601499 |
| Robin Sequence With Distinctive Facial Appearance And Brachydactyly |
|
Corneal opacity, Micrognathia, Aplasia of the distal phalanx of the 5th toe, Aplasia of the dista... |
OMIM:608670 |
| Acrocallosal Syndrome |
|
Microretrognathia, Finger syndactyly, Inguinal hernia, Toe syndactyly, Duplication of thumb phala... |
OMIM:200990 |
| Neurocardiofaciodigital Syndrome |
|
Optic disc pallor, Syndactyly, Cataract, Small for gestational age, Sclerocornea, Polydactyly, Fa... |
OMIM:619869 |
| Wiedemann-Rautenstrauch Syndrome |
|
Hypoplastic vertebral bodies, Loss of facial adipose tissue, Long toe, 2-3 toe syndactyly, Pulmon... |
ORPHA:3455 |
| Oculoectodermal Syndrome |
|
Hyperactivity, Transient ischemic attack, Lower limb asymmetry, Microcornea, Astigmatism, Opacifi... |
OMIM:600268 |
| Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7 |
|
Narrow joint spaces of the elbow, Syndactyly, Small for gestational age, Micrognathia, Lower limb... |
ORPHA:96182 |
| Ablepharon Macrostomia Syndrome |
|
Omphalocele, Toe syndactyly, Corneal opacity, Camptodactyly of finger, Corneal erosion, Umbilical... |
ORPHA:920 |
| Kbg Syndrome |
|
Syndactyly, Single transverse palmar crease, Cutaneous syndactyly, Attention deficit hyperactivit... |
OMIM:148050 |
| Optic Nerve Hypoplasia, Bilateral |
|
Optic nerve aplasia, Remnants of the hyaloid vascular system, Optic nerve hypoplasia |
OMIM:165550 |
| Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
|
Aplasia/hypoplasia of the extremities, Femoral bowing, Foot oligodactyly, Aplasia/Hypoplasia of t... |
OMIM:276820 |
| Blepharo-Cheilo-Odontic Syndrome |
|
Finger syndactyly |
ORPHA:1997 |
| Tukel Syndrome |
|
Carpal synostosis, Syndactyly, Carpal bone aplasia, Postaxial oligodactyly |
OMIM:609428 |
| Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form |
|
Corneal opacity, Scarring, Atrophic scars, Palmoplantar keratoderma, Enamel hypoplasia, Failure t... |
ORPHA:79396 |
| Crane-Heise Syndrome |
|
Finger syndactyly, Toe syndactyly, Hypoplastic scapulae, Aplastic clavicle, Micrognathia, Talipes... |
ORPHA:1512 |
| Teebi-Shaltout Syndrome |
|
Syndactyly, Ulnar deviation of the hand, Single transverse palmar crease, Rocker bottom foot, Met... |
OMIM:272950 |
| Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion |
|
Epistaxis, Intracranial hemorrhage, Hypertension, Palpitations, Abnormal T-wave |
ORPHA:231625 |
| Mosaic Variegated Aneuploidy Syndrome |
|
Aortic regurgitation, Cataract, Corneal opacity, Micrognathia, Abnormality of the upper limb, Cli... |
ORPHA:1052 |
| Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Hallux valgus, Spontaneous, recurrent epistaxis, Papilledema, Corneal opacity, Cachexia, Abnormal... |
ORPHA:2072 |
| Klippel-Trenaunay-Weber Syndrome |
|
Syndactyly, Hand oligodactyly, Macrodactyly, Hand polydactyly |
OMIM:149000 |
| Robinow Syndrome, Autosomal Dominant 3 |
|
Omphalocele, Syndactyly, Tricuspid regurgitation, Micrognathia, Mesomelia, Clinodactyly, Short ph... |
OMIM:616894 |
| Acrofacial Dysostosis, Palagonia Type |
|
Finger syndactyly, Micrognathia, Small hand, Short 4th metacarpal |
ORPHA:1787 |
| Autosomal Recessive Multiple Pterygium Syndrome |
|
Finger syndactyly, Inguinal hernia, Camptodactyly of finger, Multiple pterygia, Micrognathia, Abn... |
ORPHA:2990 |
| Larsen Syndrome |
|
Finger syndactyly, Accessory carpal bones, Abnormal epiphysis morphology, Broad distal phalanx of... |
ORPHA:503 |
| Hypoglossia-Hypodactyly Syndrome |
|
Finger syndactyly, Brachydactyly, Micrognathia, Adactyly, Split hand, Aplasia/Hypoplasia of finge... |
ORPHA:989 |
| Neu-Laxova Syndrome 2 |
|
Finger syndactyly, Toe syndactyly, Cataract, Rocker bottom foot, Micrognathia |
OMIM:616038 |
| Postaxial Acrofacial Dysostosis |
|
Syndactyly, Hypoplasia of the ulna, Congenital hip dislocation, Micrognathia, Short thumb, Abnorm... |
OMIM:263750 |
| Aminopterin/Methotrexate Embryofetopathy |
|
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Talipes, Micromelia, Micrognathia, Mesomelia |
ORPHA:1908 |
| Ring Chromosome 12 Syndrome |
|
Syndactyly, Small for gestational age, Abnormal 5th finger morphology, Symphalangism of the thumb... |
ORPHA:1439 |
| Microphthalmia, Syndromic 6 |
|
Finger syndactyly, Thumb contracture, Toe syndactyly, Single transverse palmar crease, Sclerocorn... |
OMIM:607932 |
| Lenz-Majewski Hyperostotic Dwarfism |
|
Hyperextensibility of the finger joints, Syndactyly, Inguinal hernia, Aplasia/Hypoplasia of the m... |
OMIM:151050 |
| Meckel Syndrome |
|
Bowing of the long bones, Cataract, Talipes, Sclerocornea, Micrognathia, Preaxial hand polydactyl... |
ORPHA:564 |
| Pallister-Hall Syndrome |
|
Syndactyly, Mesoaxial foot polydactyly, Toe syndactyly, Mesoaxial hand polydactyly, Postaxial han... |
OMIM:146510 |
| Saethre-Chotzen Syndrome |
|
Hallux valgus, Finger syndactyly, Proximal radio-ulnar synostosis, Brachydactyly, Optic atrophy, ... |
ORPHA:794 |
| Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
|
Omphalocele, Inguinal hernia, Abnormal pelvis bone morphology, Corneal opacity, Camptodactyly of ... |
ORPHA:2273 |
| Dopamine Beta-Hydroxylase Deficiency |
|
Abnormal EKG, Orthostatic hypotension, Syncope, Orthostatic syncope |
ORPHA:230 |
| Kinsship Syndrome |
|
Pes planus, Single transverse palmar crease, Coxa valga, Micrognathia, Hip dislocation, Bruxism, ... |
OMIM:619297 |
| Hereditary Sensory And Autonomic Neuropathy Type 4 |
|
Nail-biting, Hyperactivity, Fasciitis, Impulsivity, Corneal scarring, Atypical scarring of skin, ... |
ORPHA:642 |
| Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Hallux valgus, Failure to thrive, Hypoplastic scapulae, Lipodystrophy, Camptodactyly of finger, C... |
OMIM:256040 |
| Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome |
|
Finger syndactyly, Toe syndactyly, Elbow dislocation, Aplasia/Hypoplasia of the phalanges of the ... |
ORPHA:1112 |
| Trisomy 20P |
|
Finger syndactyly, Inguinal hernia, Camptodactyly of finger, Talipes, Micrognathia, Preaxial hand... |
ORPHA:261318 |
| Brain Small Vessel Disease 1 With Or Without Ocular Anomalies |
|
Corneal opacity, Cerebral hemorrhage, Polycoria, Retinal hemorrhage, Developmental cataract, Micr... |
OMIM:175780 |
| Fanconi Anemia |
|
Micrognathia, Abnormal femur morphology, Triphalangeal thumb, Clinodactyly of the 5th finger, Fin... |
ORPHA:84 |
| 14Q22Q23 Microdeletion Syndrome |
|
Optic nerve aplasia, Finger syndactyly, Toe syndactyly, Micrognathia, Short foot, Short palm, Cli... |
ORPHA:264200 |
| Combined Oxidative Phosphorylation Deficiency 25 |
|
Intraventricular hemorrhage, Failure to thrive, Syndactyly |
OMIM:616430 |
| Tarp Syndrome |
|
Finger syndactyly, Single transverse palmar crease, Rocker bottom foot, Postaxial polydactyly, Mi... |
ORPHA:2886 |
| Autosomal Recessive Robinow Syndrome |
|
Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Bilateral single transverse palmar creas... |
ORPHA:1507 |
| 8Q22.1 Microdeletion Syndrome |
|
Finger syndactyly, Sandal gap, Camptodactyly of finger |
ORPHA:178303 |
| Proboscis Lateralis |
|
Aplasia/Hypoplasia of the maxilla, Cataract, Corneal opacity, Optic nerve hypoplasia, Optic disc ... |
ORPHA:141099 |
| Schneckenbecken Dysplasia |
|
Hypoplastic scapulae, Increased fibular diameter, Dumbbell-shaped long bone, Micromelia, Hypoplas... |
ORPHA:3144 |
| Hereditary Acrokeratotic Poikiloderma |
|
Finger syndactyly, Telangiectasia of the skin, Camptodactyly of finger, Palmoplantar hyperkeratos... |
ORPHA:2907 |
| Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome |
|
Small for gestational age, Opacification of the corneal stroma |
OMIM:215250 |
| Orofaciodigital Syndrome Type 4 |
|
Finger syndactyly, Camptodactyly of finger, Micromelia, Micrognathia, Preaxial hand polydactyly, ... |
ORPHA:2753 |
| Apolipoprotein A-I Deficiency |
|
Angina pectoris, Opacification of the corneal stroma |
ORPHA:425 |
| Microphthalmia, Syndromic 3 |
|
Optic nerve aplasia, Cataract, Optic nerve hypoplasia, Sclerocornea, Missing ribs, Coloboma, Vert... |
OMIM:206900 |
| Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
|
Syndactyly, Micrognathia, Optic atrophy, Coloboma, Hip dysplasia, Attention deficit hyperactivity... |
OMIM:616975 |
| Orofaciodigital Syndrome Type 1 |
|
Finger syndactyly, Tarsal synostosis, Abnormal dental enamel morphology, Micrognathia, Preaxial h... |
ORPHA:2750 |
| Peters-Plus Syndrome |
|
Single transverse palmar crease, Limited elbow movement, Proximal placement of thumb, Micrognathi... |
OMIM:261540 |
| African Trypanosomiasis |
|
Abnormal EKG, Pericarditis, Papilledema, Aggressive behavior, Keratitis, Myocarditis, Congestive ... |
ORPHA:3385 |
| Autosomal Recessive Spondylocostal Dysostosis |
|
Finger syndactyly, Inguinal hernia, Camptodactyly of finger, Congenital diaphragmatic hernia, Umb... |
ORPHA:2311 |
| Cranioectodermal Dysplasia 1 |
|
Broad toe, Brachydactyly, Short humerus, Rhizomelia, Single transverse palmar crease, Broad dista... |
OMIM:218330 |
| Absence Of The Pulmonary Artery |
|
Abnormal EKG, Atrial flutter, Atrial fibrillation, Tachycardia, Congestive heart failure, Pedal e... |
ORPHA:980 |
| Faciodigitogenital Syndrome, Autosomal Recessive |
|
Syndactyly, Inguinal hernia, Down-sloping shoulders, Metatarsus adductus, Broad palm, Short foot,... |
OMIM:227330 |
| Proteus Syndrome |
|
Central heterochromia, Pulmonary embolism, Abnormal finger morphology, Chorioretinal coloboma, Cl... |
ORPHA:744 |
| Eec Syndrome |
|
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Abnormal dental enamel morpho... |
ORPHA:1896 |
| Monosomy 13Q14 |
|
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Cataract, Micrognathia, Clinodactyly of the 5... |
ORPHA:1587 |
| Townes-Brocks Syndrome 1 |
|
2-4 finger syndactyly, Pseudoepiphyses of second metacarpal, 1-2 toe syndactyly, Talipes, Small f... |
OMIM:107480 |
| Cleft Lip/Palate-Ectodermal Dysplasia Syndrome |
|
Finger syndactyly, Toe syndactyly, Abnormal dental enamel morphology, Micrognathia, Palmoplantar ... |
ORPHA:3253 |
| Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities |
|
Nail-biting, Sandal gap, Optic nerve hypoplasia, Aggressive behavior, Hair-pulling, Long fingers,... |
OMIM:620330 |
| Osteopathia Striata With Cranial Sclerosis |
|
Omphalocele, Failure to thrive, Paranasal sinus hypoplasia, Arachnodactyly, Micrognathia, Osteopa... |
OMIM:300373 |
| Autosomal Dominant Popliteal Pterygium Syndrome |
|
Finger syndactyly, Toe syndactyly, Micrognathia, Split hand, Popliteal pterygium |
ORPHA:1300 |
| Orofaciodigital Syndrome I |
|
Microretrognathia, Syndactyly, Hypertension, Short 2nd toe, Polydactyly, Radial deviation of fing... |
OMIM:311200 |
| Mucoepithelial Dysplasia, Hereditary |
|
Cataract, Keratoconjunctivitis, Melena, Opacification of the corneal stroma, Corneal neovasculari... |
OMIM:158310 |
| Fryns Syndrome |
|
Omphalocele, Microretrognathia, Single transverse palmar crease, Proximal placement of thumb, Roc... |
OMIM:229850 |
| Robinow Syndrome |
|
Syndactyly, Brachydactyly, Small for gestational age, Bifid distal phalanx of the thumb, Microgna... |
ORPHA:97360 |
| Diaphragmatic Hernia 4, With Cardiovascular Defects |
|
11 pairs of ribs, Finger syndactyly, Optic nerve hypoplasia, Micrognathia, 2-3 toe syndactyly, Ap... |
OMIM:620025 |
| Gaucher Disease |
|
Corneal opacity, Depression, Dysphagia, Pulmonary arterial hypertension, Arthrogryposis multiplex... |
ORPHA:355 |
| Mosaic Trisomy 16 |
|
Syndactyly, Small for gestational age, Single transverse palmar crease, Short thumb, Short femora... |
ORPHA:1708 |
| Autoimmune Polyendocrinopathy Type 1 |
|
Cataract, Opacification of the corneal stroma |
ORPHA:3453 |
| Meckel Syndrome, Type 1 |
|
Omphalocele, Syndactyly, Bowing of the long bones, Camptodactyly of finger, Postaxial polydactyly... |
OMIM:249000 |
| Galactosialidosis |
|
Conjunctival telangiectasia, Opacification of the corneal stroma |
OMIM:256540 |
| Full Nf2-Related Schwannomatosis |
|
Cortical cataract, Posterior subcapsular cataract, Remnants of the hyaloid vascular system, Dysph... |
ORPHA:637 |
| Vacterl/Vater Association |
|
Omphalocele, Finger syndactyly, Congenital diaphragmatic hernia, Preaxial hand polydactyly, Aplas... |
ORPHA:887 |
| Amastia, Bilateral, With Ureteral Triplication And Dysmorphism |
|
Cubitus valgus, Syndactyly, Congenital hip dislocation, Umbilical hernia |
OMIM:104350 |
| Fraser Syndrome 1 |
|
Aplasia/Hypoplasia of the thumb, Corneal opacity, Aplasia/Hypoplasia of the sternum, Aplasia/Hypo... |
OMIM:219000 |
| Mckusick-Kaufman Syndrome |
|
Finger syndactyly, Tarsal synostosis, Postaxial hand polydactyly, Postaxial foot polydactyly, Abn... |
ORPHA:2473 |
| Lathosterolosis |
|
Toe syndactyly, Cataract, Micrognathia, Postaxial hand polydactyly, Postaxial foot polydactyly, T... |
OMIM:607330 |
| Neu-Laxova Syndrome 1 |
|
Finger syndactyly, Cataract, Toe syndactyly, Rocker bottom foot, Micromelia, Micrognathia, Long f... |
OMIM:256520 |
| Degcags Syndrome |
|
Syndactyly, Tachycardia, Toe syndactyly, Small for gestational age, Oral-pharyngeal dysphagia, Hi... |
OMIM:619488 |
| Friedreich Ataxia 2 |
|
Abnormal EKG, Congestive heart failure, Concentric hypertrophic cardiomyopathy, Hammertoe, Pes cavus |
OMIM:601992 |
| Lenz-Majewski Hyperostotic Dwarfism |
|
Finger syndactyly, Inguinal hernia, Femoral hernia, Abnormal dental enamel morphology, Aplastic c... |
ORPHA:2658 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
|
Cataract, Retinal atrophy, Micrognathia, Optic atrophy, Buphthalmos, Coloboma, Hypoplasia of the ... |
OMIM:253280 |
| Saethre-Chotzen Syndrome |
|
Hallux valgus, Syndactyly, Absent first metatarsal, Toe syndactyly, Partial duplication of the di... |
OMIM:101400 |
| Bloom Syndrome |
|
Syndactyly, Small for gestational age, Hand polydactyly, Clinodactyly of the 5th finger, Facial t... |
OMIM:210900 |
| Autosomal Dominant Robinow Syndrome |
|
Finger syndactyly, Inguinal hernia, Femoral hernia, Camptodactyly of finger, Micromelia, Coxa val... |
ORPHA:3107 |
| Cranioectodermal Dysplasia 2 |
|
Syndactyly, Inguinal hernia, Rhizomelia, Micrognathia, Postaxial hand polydactyly, Hypertension, ... |
OMIM:613610 |
| Rapp-Hodgkin Syndrome |
|
Syndactyly, 2-3 toe cutaneous syndactyly, Palmoplantar keratoderma, Enamel hypoplasia |
OMIM:129400 |
| Lacrimoauriculodentodigital Syndrome 1 |
|
Hypoplasia of the ulna, Broad hallux, Absent radius, Short thumb, Partial duplication of thumb ph... |
OMIM:149730 |
| Xeroderma Pigmentosum |
|
Conjunctival telangiectasia, Cataract, Telangiectasia of the skin, Keratitis, Optic atrophy, Tela... |
ORPHA:910 |
| Wilson Disease |
|
Kayser-Fleischer ring, Pedal edema, Chondrocalcinosis, Dysphagia |
OMIM:277900 |
| Genitourinary And/Or Brain Malformation Syndrome |
|
Omphalocele, Syndactyly, Micrognathia, Astigmatism, Attention deficit hyperactivity disorder |
OMIM:618820 |
| Specc1L-Related Hypertelorism Syndrome |
|
Omphalocele, Finger syndactyly, Short toe, Clinodactyly of the 5th finger, Umbilical hernia, Arrh... |
ORPHA:1519 |
| Constricting Bands, Congenital |
|
Omphalocele, Syndactyly, Hand polydactyly, Talipes equinovarus |
OMIM:217100 |
| Phace Syndrome |
|
Cataract, Optic nerve hypoplasia, Sclerocornea, Lens coloboma, Heterochromia iridis, Iris coloboma |
ORPHA:42775 |
| Microphthalmia, Syndromic 1 |
|
Syndactyly, Abnormal palmar dermatoglyphics, Down-sloping shoulders, Aggressive behavior, Self-mu... |
OMIM:309800 |
| Limb-Mammary Syndrome |
|
Syndactyly, Toe syndactyly, Chronic irritative conjunctivitis, 3-4 finger cutaneous syndactyly, C... |
ORPHA:69085 |
| Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Abnormal pupil morphology, Calcaneovalgus deformity, Flexion contracture, Microcornea, Abnormal r... |
ORPHA:261552 |
| Gaucher Disease, Type Iiic |
|
Mitral stenosis, Pes cavus, Opacification of the corneal stroma |
OMIM:231005 |
| Anemia, Congenital Dyserythropoietic, Type Ia |
|
Syndactyly, Small for gestational age |
OMIM:224120 |
| Trichorhinophalangeal Syndrome, Type Ii |
|
Syndactyly, Scapular winging, Short metacarpal, Inguinal hernia, Single transverse palmar crease,... |
OMIM:150230 |
| Autosomal Recessive Faciodigitogenital Syndrome |
|
Finger syndactyly, Down-sloping shoulders, Micrognathia, Short foot, Clinodactyly of the 5th fing... |
ORPHA:1974 |
| Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Calcaneovalgus deformity, Flexion contracture, Abnormal repetitive mannerisms, Long hallux, Iris ... |
ORPHA:261537 |
| Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Cataract, Micrognathia, Congestive heart failure, Small hand, Obesity, Fibular hypoplasia, Hypopl... |
ORPHA:444077 |
| Monosomy 22 |
|
Finger syndactyly, Single transverse palmar crease, Clubbing, Contractures of the large joints, C... |
ORPHA:96123 |
| Adult Syndrome |
|
Finger syndactyly, Toe syndactyly, Split foot |
ORPHA:978 |
| Fontaine Progeroid Syndrome |
|
Reduced subcutaneous adipose tissue, Syndactyly, Tricuspid regurgitation, Small for gestational a... |
OMIM:612289 |
| Digeorge Syndrome |
|
Inguinal hernia, Femoral hernia, Sclerocornea, Micrognathia, Obesity, Patellar dislocation, Atten... |
OMIM:188400 |
| Hypertelorism-Hypospadias-Polysyndactyly Syndrome |
|
Preaxial hand polydactyly, Finger syndactyly, Broad hallux phalanx, Broad thumb |
ORPHA:2211 |
| Mowat-Wilson Syndrome |
|
Calcaneovalgus deformity, Flexion contracture, Abnormal repetitive mannerisms, Iris coloboma, Lon... |
ORPHA:2152 |
| Loeys-Dietz Syndrome 2 |
|
Syndactyly, Inguinal hernia, Pes planus, Arachnodactyly, Protrusio acetabuli, Postaxial polydacty... |
OMIM:610168 |
| Coffin-Siris Syndrome 12 |
|
Micrognathia, Hip subluxation, Short thumb, Slender finger, Heart murmur, Cutaneous syndactyly, R... |
OMIM:619325 |
| Doors Syndrome |
|
11 pairs of ribs, Cataract, Aplasia/Hypoplasia of the phalanges of the 2nd toe, Equinovarus defor... |
ORPHA:79500 |
| Craniofrontonasal Dysplasia-Poland Anomaly Syndrome |
|
Syndactyly, Unilateral brachydactyly, Aplasia/Hypoplasia involving the shoulder musculature, Apla... |
ORPHA:1521 |
| Tangier Disease |
|
Corneal opacity |
ORPHA:31150 |
| Ifap Syndrome 1, With Or Without Bresheck Syndrome |
|
Omphalocele, Inguinal hernia, Keratitis, Postaxial hand polydactyly, Hip dislocation, Hypertensio... |
OMIM:308205 |
| Mckusick-Kaufman Syndrome |
|
Syndactyly, Congenital hip dislocation, Mesoaxial hand polydactyly, Postaxial hand polydactyly, P... |
OMIM:236700 |
| Fraser Syndrome 3 |
|
Short toe, Micrognathia, Cutaneous syndactyly |
OMIM:617667 |
| Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Aortic regurgitation, Syndactyly, Inguinal hernia, Tricuspid regurgitation, Left-to-right shunt, ... |
OMIM:619534 |
| Vater/Vacterl Association |
|
Syndactyly, Absent radius, Short thumb, Hypoplasia of the radius, Preaxial polydactyly, Radioulna... |
OMIM:192350 |
| Alpha-N-Acetylgalactosaminidase Deficiency Type 2 |
|
Telangiectasia of the oral mucosa, Telangiectasia of the skin, Lip telangiectasia, Opacification ... |
ORPHA:79280 |
| Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome |
|
Finger syndactyly, Abnormal dental enamel morphology, Micrognathia, Palmoplantar keratoderma, Cli... |
ORPHA:1071 |
| Holoprosencephaly 2 |
|
Cyclopia, Remnants of the hyaloid vascular system, Iris coloboma, Chorioretinal coloboma |
OMIM:157170 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13 |
|
11 pairs of ribs, Optic nerve dysplasia, Retinal dysplasia, Opacification of the corneal stroma |
OMIM:615287 |
| Hennekam Syndrome |
|
Finger syndactyly, Camptodactyly of finger, Abnormal foot morphology |
ORPHA:2136 |
| Hartsfield Syndrome |
|
Syndactyly, Ectrodactyly |
OMIM:615465 |
| Fraser Syndrome 2 |
|
Cutaneous syndactyly |
OMIM:617666 |
| Woodhouse-Sakati Syndrome |
|
Abnormal T-wave |
OMIM:241080 |
| Fraser Syndrome |
|
Omphalocele, Finger syndactyly, Toe syndactyly, Umbilical hernia, Wide pubic symphysis |
ORPHA:2052 |
| Woodhouse-Sakati Syndrome |
|
Abnormal T-wave |
ORPHA:3464 |
