| 14Q24.1Q24.3 Microdeletion Syndrome |
|
Dislocated radial head, Long philtrum, Atrial septal defect, Truncus arteriosus, Short nose, Abno... |
ORPHA:401935 |
| Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
|
Truncus arteriosus, Bulbous nose, Broad thumb, Coarctation of aorta, Patent ductus arteriosus, Bi... |
OMIM:612474 |
| Congenital Absence Of Upper Arm And Forearm With Hand Present |
|
Abnormal lung morphology, Congenital malformation of the great arteries, Abnormal heart morpholog... |
ORPHA:294975 |
| Right Atrial Isomerism |
|
Right atrial isomerism, Situs inversus totalis, Abdominal situs ambiguus, Single ventricle, Aorto... |
OMIM:208530 |
| Heterotaxy, Visceral, 2, Autosomal |
|
Situs inversus totalis, Polysplenia, Abdominal situs inversus, Intestinal malrotation, Dextrocard... |
OMIM:605376 |
| Genitopalatocardiac Syndrome |
|
Ventricular septal defect, Double outlet right ventricle, Renal cyst, Cleft upper lip, Cleft pala... |
OMIM:231060 |
| Heterotaxy, Visceral, 7, Autosomal |
|
Atrial septal defect, Situs inversus totalis, Interrupted aortic arch, Abnormal tricuspid valve m... |
OMIM:616749 |
| Syndactyly Type 2 |
|
Camptodactyly of finger, Mesoaxial polydactyly, 2-3 toe syndactyly, Preaxial foot polydactyly, 3-... |
ORPHA:93403 |
| Polydactyly, Preaxial Ii |
|
Opposable triphalangeal thumb, Postaxial hand polydactyly, Preaxial hand polydactyly, Duplication... |
OMIM:174500 |
| Oculoauricular Syndrome |
|
Coloboma, Microphakia, Macular hypoplasia, Cataract, Ocular anterior segment dysgenesis, Microcor... |
OMIM:612109 |
| Synpolydactyly 1 |
|
6 metacarpals, 4-5 toe syndactyly, Y-shaped metacarpals, Finger syndactyly, 2nd-5th toe middle ph... |
OMIM:186000 |
| Conotruncal Heart Malformations |
|
Truncus arteriosus, Complete atrioventricular canal defect, Postaxial polydactyly, Double outlet ... |
OMIM:217095 |
| Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Urethral atresia, Hand polydactyly, Enlarged kidney, Short humerus, Anal atresia, Isomerism, Abse... |
OMIM:314390 |
| Brachydactyly, Type C |
|
Triangular shaped middle phalanx of the 3rd finger, Triangular shaped proximal phalanx of the 2nd... |
OMIM:113100 |
| Cleft-Limb-Heart Malformation Syndrome |
|
Syndactyly, Truncus arteriosus |
OMIM:215850 |
| Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs |
|
Truncus arteriosus, Underdeveloped nasal alae, Ventricular septal defect, Unilateral renal agenes... |
OMIM:601355 |
| Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome |
|
Truncus arteriosus, Renal agenesis, Underdeveloped nasal alae, Ventricular septal defect, Abnorma... |
ORPHA:2516 |
| Thymic Aplasia With Fetal Death |
|
Renal agenesis, Pulmonary hypoplasia, Truncus arteriosus, Ureteral agenesis |
OMIM:274210 |
| Tricuspid Atresia |
|
Tricuspid atresia, Atrial septal defect, Patent foramen ovale, Ventricular septal defect, Persist... |
ORPHA:1209 |
| Biemond Syndrome Type 2 |
|
Microphthalmia, Preaxial polydactyly, Hydrocephalus, Coloboma |
ORPHA:141333 |
| Blindness-Scoliosis-Arachnodactyly Syndrome |
|
Abnormality of retinal pigmentation, Microphakia, Cataract, Lens subluxation, Retinal detachment,... |
ORPHA:171844 |
| 17Q12 Microduplication Syndrome |
|
Atrial septal defect, Toe syndactyly, Finger syndactyly, Microphthalmia, Cleft palate, Tracheoeso... |
ORPHA:261272 |
| Short Rib-Polydactyly Syndrome |
|
Abnormal ilium morphology, Nephronophthisis, Gastrointestinal atresia, Abnormality of long bone m... |
ORPHA:1505 |
| Holzgreve Syndrome |
|
Hand polydactyly, Renal hypoplasia, Hypoplastic left heart, Cleft upper lip, Cleft palate, Renal ... |
OMIM:236110 |
| Microspherophakia-Metaphyseal Dysplasia |
|
Irregular epiphyses, Microspherophakia, Lens coloboma, Metaphyseal dysplasia, Lens subluxation, R... |
OMIM:157151 |
| Polydactyly, Postaxial, Type A1 |
|
Postaxial hand polydactyly, Broad thumb, Preaxial polydactyly, Syndactyly, Triphalangeal thumb |
OMIM:174200 |
| Double Outlet Right Ventricle |
|
Truncus arteriosus, Narrow mouth, Ventricular septal defect, Coarctation of aorta, Intestinal mal... |
ORPHA:3426 |
| Microgastria-Limb Reduction Defect Syndrome |
|
Absent hand, Crossed fused renal ectopia, Elbow dislocation, Intestinal malrotation, Abnormality ... |
ORPHA:2538 |
| Chromosome 22Q11.2 Deletion Syndrome, Distal |
|
Truncus arteriosus, Underdeveloped nasal alae, Smooth philtrum, Thin upper lip vermilion, Cleft p... |
OMIM:611867 |
| Czeizel-Losonci Syndrome |
|
2-3 finger syndactyly, Spina bifida, 1-2 finger syndactyly, Congenital megaureter, Abnormality of... |
ORPHA:2437 |
| Hypertelorism, Microtia, Facial Clefting Syndrome |
|
Small thenar eminence, Broad nasal tip, Narrow mouth, Abnormal heart morphology, 2-3 toe syndacty... |
OMIM:239800 |
| Anterior Segment Dysgenesis 8 |
|
Persistent pupillary membrane, Uveal ectropion, Microphakia, Ectopia lentis, Hypoplasia of the ir... |
OMIM:617319 |
| Gombo Syndrome |
|
Abnormal heart morphology, Radial deviation of finger, Clinodactyly, Microphthalmia, Brachydactyly |
OMIM:233270 |
| Catel-Manzke Syndrome |
|
Talipes equinovarus, Ventricular septal defect, Coarctation of aorta, Camptodactyly, Ulnar deviat... |
OMIM:616145 |
| 16P13.11 Microduplication Syndrome |
|
Atrial septal defect, Hand polydactyly, Ventricular septal defect, Coarctation of aorta, Tetralog... |
ORPHA:261243 |
| Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Situs inversus totalis, Truncus arteriosus, Enlarged kidney, Cystic renal dysplasia, Cholestasis,... |
OMIM:615415 |
| Heterotaxy, Visceral, 4, Autosomal |
|
Ventricular septal defect, Dextrocardia, Atrioventricular canal defect, Right aortic arch, Ectopi... |
OMIM:613751 |
| Mosaic Trisomy 9 |
|
Bulbous nose, Elbow dislocation, Intestinal malrotation, Patent ductus arteriosus, Dextrocardia, ... |
ORPHA:99776 |
| Truncus Arteriosus |
|
Abnormal coronary artery morphology, Patent ductus arteriosus, Pulmonary edema, Pulmonary artery ... |
ORPHA:3384 |
| Kallmann Syndrome-Heart Disease Syndrome |
|
Anomalous origin of left coronary artery from the pulmonary artery, Midgut malrotation, Pulmonary... |
ORPHA:2326 |
| Meckel Syndrome, Type 8 |
|
Postaxial hand polydactyly, Short nose, Polydactyly, Anophthalmia, Cleft palate, Microphthalmia, ... |
OMIM:613885 |
| Polycystic Kidney, Cataract, And Congenital Blindness |
|
Hypoplasia of the retina, Cataract, Microcoria, Retinal dystrophy |
OMIM:263100 |
| Mmep Syndrome |
|
Ventricular septal defect, Oral cleft, Split foot, Microphthalmia, Triphalangeal thumb, Median cl... |
ORPHA:3434 |
| Acrocardiofacial Syndrome |
|
Camptodactyly of finger, Atrial septal defect, Truncus arteriosus, Toe syndactyly, Ventricular se... |
ORPHA:2008 |
| Microphthalmia, Syndromic 9 |
|
Single ventricle, Patent ductus arteriosus, Multilobulated spleen, Pelvic kidney, Anophthalmia, A... |
OMIM:601186 |
| Atrioventricular Septal Defect, Susceptibility To, 2 |
|
Pulmonary artery atresia, Right aortic arch with mirror image branching, Dextrocardia, Atrioventr... |
OMIM:606217 |
| Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies |
|
Overlapping fingers, Atrial septal defect, Cutaneous syndactyly, Patent foramen ovale, Overlappin... |
OMIM:618316 |
| Bardet-Biedl Syndrome 13 |
|
Attenuation of retinal blood vessels, Polydactyly, Bone spicule pigmentation of the retina, Rod-c... |
OMIM:615990 |
| Pallister-Hall-Like Syndrome |
|
Postaxial hand polydactyly, Short nose, Abnormal heart morphology, Micromelia, Renal dysplasia, M... |
OMIM:241800 |
| Microphthalmia, Isolated, With Coloboma 6 |
|
Optic disc hypoplasia, Hypoplasia of the fovea, Bilateral microphthalmos, Coloboma |
OMIM:613703 |
| Hadziselimovic Syndrome |
|
Ventricular hypertrophy, Atrial septal defect, Anteverted nares, Ventricular septal defect, Renal... |
OMIM:612946 |
| Microspherophakia With Hernia |
|
Superior lens subluxation, Microspherophakia, Retinal detachment |
OMIM:157150 |
| Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities |
|
Truncus arteriosus, Ventricular septal defect, Renal hypoplasia, Mesomelia, Hypoplasia of the uln... |
OMIM:228940 |
| Short Stature-Wormian Bones-Dextrocardia Syndrome |
|
Camptodactyly of finger, Delayed eruption of teeth, Depressed nasal tip, Midshaft hypospadias, Ab... |
ORPHA:2863 |
| Scimitar Syndrome |
|
Single ventricle, Patent ductus arteriosus, Bronchogenic cyst, Dextrocardia, Left superior vena c... |
ORPHA:185 |
| Santos Syndrome |
|
Oligodactyly, Genu valgum, Polydactyly, Preaxial polydactyly, Postaxial polydactyly, Metatarsus a... |
OMIM:613005 |
| Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome |
|
Overlapping fingers, Atrial septal defect, Ventricular septal defect, Preaxial polydactyly, Paten... |
OMIM:618142 |
| Oculomaxillofacial Dysostosis |
|
Camptodactyly of finger, Underdeveloped nasal alae, Abnormality of the nose, Abnormality of the d... |
ORPHA:1794 |
| Adams-Oliver Syndrome 6 |
|
Truncus arteriosus, Ventricular septal defect, Renal hypoplasia, Foot oligodactyly, Esophageal va... |
OMIM:616589 |
| Orofaciodigital Syndrome Xviii |
|
Genu valgum, Short philtrum, Short middle phalanx of finger, Preaxial polydactyly, Diastema, Post... |
OMIM:617927 |
| Methimazole Embryofetopathy |
|
Ventricular septal defect, Abnormal aortic morphology, Choanal atresia, Esophageal atresia, Coarc... |
ORPHA:1923 |
| Cleft Palate, Cardiac Defects, And Mental Retardation |
|
Atrial septal defect, Broad thumb, Ventricular septal defect, Gastroesophageal reflux, 2-3 toe sy... |
OMIM:600987 |
| Polydactyly, Preaxial Iv |
|
Preaxial polydactyly, 3-4 finger syndactyly, Dysplastic distal thumb phalanges with a central hol... |
OMIM:174700 |
| Biemond Syndrome Ii |
|
Preaxial hand polydactyly, Iris coloboma, Hydrocephalus |
OMIM:210350 |
| Renal Tubular Dysgenesis |
|
Multiple renal cysts, Proximal tubulopathy, Renotubular dysgenesis, Nephropathy, Bilateral single... |
ORPHA:3033 |
| Frontonasal Dysplasia 1 |
|
Pectoral muscle hypoplasia/aplasia, Postaxial hand polydactyly, Hypoplastic frontal sinuses, Shor... |
OMIM:136760 |
| 14Q11.2 Microdeletion Syndrome |
|
Long philtrum, Toe syndactyly, Short nose, Narrow mouth, Ventricular septal defect, Everted lower... |
ORPHA:261120 |
| Microphthalmia, Syndromic 12 |
|
Ventricular septal defect, Hypoplastic left atrium, Anophthalmia, Wide nasal bridge, Pulmonary hy... |
OMIM:615524 |
| Dextrocardia With Unusual Facies And Microphthalmia |
|
Anophthalmia, Dextrocardia, Microphthalmia, Cleft palate, Prominent nose |
OMIM:221950 |
| Fanconi Anemia, Complementation Group B |
|
Ventricular septal defect, Optic disc hypoplasia, Patent ductus arteriosus, Esophageal atresia, T... |
OMIM:300514 |
| Congenital Alveolar Capillary Dysplasia |
|
Pulmonary valve atresia, Atrial septal defect, Ventricular septal defect, Absent gallbladder, Aga... |
ORPHA:210122 |
| Phenobarbital Embryopathy |
|
Aplasia/Hypoplasia of fingers, Abnormal mitral valve morphology, Unilateral cleft lip, Abnormal n... |
ORPHA:1919 |
| Hallux Varus And Preaxial Polysyndactyly |
|
Hallux varus, Preaxial hand polydactyly, Syndactyly, Broad hallux |
OMIM:234280 |
| Mycophenolate Mofetil Embryopathy |
|
Ventricular septal defect, Tracheomalacia, Oral cleft, Foot polydactyly, Ectopic kidney, Micropht... |
ORPHA:268249 |
| Ciliary Dyskinesia, Primary, 37 |
|
Situs inversus totalis, Bronchiectasis, Dextrocardia, Chronic rhinitis, Right aortic arch |
OMIM:617577 |
| Transposition Of The Great Arteries, Dextro-Looped 1 |
|
Transposition of the great arteries |
OMIM:608808 |
| Polydactyly, Preaxial I |
|
Partial duplication of thumb phalanx, Preaxial hand polydactyly, Radial deviation of thumb termin... |
OMIM:174400 |
| Vacterl/Vater Association |
|
Anorectal anomaly, Preaxial hand polydactyly, Renal agenesis, Finger syndactyly, Anencephaly, Mul... |
ORPHA:887 |
| Pulmonary Atresia-Intact Ventricular Septum Syndrome |
|
Pulmonary artery atresia, Patent ductus arteriosus, Abnormal tricuspid valve morphology |
ORPHA:1208 |
| Foveal Hypoplasia 1 |
|
Hypoplasia of the fovea, Presenile cataracts |
OMIM:136520 |
| Pulmonary Atresia With Intact Ventricular Septum |
|
Pulmonary artery atresia, Hypoplastic right heart |
OMIM:265150 |
| Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Ventricular septal defect, Holoprosencephaly, Patent ductus arteriosus, Esophageal atresia, Micro... |
ORPHA:77298 |
| Nevus Comedonicus Syndrome |
|
Spina bifida, Toe syndactyly, Finger syndactyly, Preaxial polydactyly, Cataract, Spina bifida occ... |
ORPHA:64754 |
| Neural Tube Defects, Folate-Sensitive |
|
Spinal dysraphism |
OMIM:601634 |
| Emanuel Syndrome |
|
Long philtrum, Delayed eruption of primary teeth, Atrial septal defect, Truncus arteriosus, Conge... |
OMIM:609029 |
| Cataract 21, Multiple Types |
|
Cortical pulverulent cataract, Iris coloboma, Cerulean cataract, Macular hypoplasia, Microcornea,... |
OMIM:610202 |
| Fallot Complex-Intellectual Disability-Growth Delay Syndrome |
|
Clubbing of fingers, Atrial septal defect, 2-3 toe syndactyly, Patent ductus arteriosus, Wide nas... |
ORPHA:3304 |
| Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome |
|
Camptodactyly of finger, Thin vermilion border, Elbow dislocation, Abnormality of epiphysis morph... |
ORPHA:2631 |
| Congenital Heart Defects, Multiple Types, 6 |
|
Hypoplastic pulmonary veins, Single ventricle, Ventricular septal defect, Complete atrioventricul... |
OMIM:613854 |
| Schisis Association |
|
Spina bifida, Anencephaly, Unilateral cleft lip, Anal atresia, Cleft palate, Renal agenesis, Trac... |
ORPHA:63862 |
| Orofaciodigital Syndrome Xvii |
|
Clubbing of fingers, Central Y-shaped metacarpal, Polydactyly, Renal hypoplasia, Short middle pha... |
OMIM:617926 |
| Trisomy 13 |
|
Long philtrum, Multiple renal cysts, Atrial septal defect, Postaxial hand polydactyly, Ventricula... |
ORPHA:3378 |
| Anophthalmia Plus Syndrome |
|
Choanal atresia, Bilateral cleft lip and palate, Anophthalmia, Non-midline cleft lip, Cleft palat... |
ORPHA:1104 |
| Congenital Contractural Arachnodactyly |
|
Camptodactyly of finger, Aortic aneurysm, Mitral valve prolapse, Intestinal malrotation, Duodenal... |
ORPHA:115 |
| Primary Ciliary Dyskinesia |
|
Bronchiectasis, Nasal polyposis, Intestinal malrotation, Atrial situs ambiguous, Double outlet ri... |
ORPHA:244 |
| Syndactyly, Type Iv |
|
6 metacarpals, Polydactyly, 2-3 toe syndactyly, 1-5 finger syndactyly, Supernumerary metacarpal b... |
OMIM:186200 |
| Thomas Syndrome |
|
Multicystic kidney dysplasia, Hypoplastic left heart, Cleft upper lip, Cleft palate, Renal hypopl... |
ORPHA:3316 |
| Recombinant Chromosome 8 Syndrome |
|
Atrial septal defect, Downturned corners of mouth, Ventricular septal defect, Thick lower lip ver... |
OMIM:179613 |
| Microgastria-Limb Reduction Defects Association |
|
Secundum atrial septal defect, Intestinal malrotation, Biliary tract abnormality, Pelvic kidney, ... |
OMIM:156810 |
| Diamond-Blackfan Anemia 6 |
|
Ventricular hypertrophy, Atrial septal defect, Macrocytic anemia, Persistence of hemoglobin F, Ve... |
OMIM:612561 |
| Floating-Harbor Syndrome |
|
Carious teeth, Oligodontia, Short clavicles, Short thumb, Broad fingertip, Hip dysplasia, Disloca... |
ORPHA:2044 |
| Lymphedema, Cardiac Septal Defects, And Characteristic Facies |
|
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Thin upper lip vermili... |
OMIM:601927 |
| Microphthalmia With Limb Anomalies |
|
Sandal gap, Anophthalmia, High palate, Depressed nasal bridge, Postaxial hand polydactyly, Foot o... |
OMIM:206920 |
| Macrosomia With Microphthalmia, Lethal |
|
Respiratory infections in early life, Median cleft palate, Microphthalmia |
OMIM:248110 |
| Mosaic Trisomy 1 |
|
Hepatic agenesis, Oral cleft, Long toe, Complete duplication of thumb phalanx, Elbow flexion cont... |
ORPHA:1692 |
| Congenital Primary Aphakia |
|
Congenital aphakia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Retinal dysplas... |
ORPHA:83461 |
| Fryns Syndrome |
|
Intestinal malrotation, Short distal phalanx of finger, Vesicoureteral reflux, High palate, Media... |
ORPHA:2059 |
| Fetal Trimethadione Syndrome |
|
Atrial septal defect, Short nose, Ventricular septal defect, Bilateral single transverse palmar c... |
ORPHA:1913 |
| Esophageal Atresia |
|
Morphological abnormality of the gastrointestinal tract, Laryngotracheomalacia, Choanal atresia, ... |
ORPHA:1199 |
| Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies |
|
Broad proximal phalanges of the hand, Choanal atresia, Bilateral microphthalmos, Short foot, Clef... |
OMIM:607597 |
| Congenital Tracheal Stenosis |
|
Morphological abnormality of the gastrointestinal tract, Anomalous origin of left pulmonary arter... |
ORPHA:141127 |
| Ritscher-Schinzel Syndrome 1 |
|
Atrial septal defect, Ventricular septal defect, Pulmonic stenosis, Aortic valve stenosis, Anal a... |
OMIM:220210 |
| Cerebrooculonasal Syndrome |
|
Long philtrum, Postaxial hand polydactyly, Anophthalmia, Abnormality of the nares, Solitary media... |
ORPHA:66625 |
| Pmp22-Rai1 Contiguous Gene Duplication Syndrome |
|
Long philtrum, Abnormal renal morphology, Atrial septal defect, Overriding aorta, Abnormal heart ... |
ORPHA:477817 |
| Liberfarb Syndrome |
|
Retinal pigment epithelial mottling, Retinal degeneration, Delayed epiphyseal ossification, Metap... |
OMIM:618889 |
| Fanconi Anemia, Complementation Group L |
|
Renal hypoplasia, Esophageal atresia, Wide nasal bridge, Anal atresia, Microphthalmia, Cleft pala... |
OMIM:614083 |
| Infections, Recurrent, With Encephalopathy, Hepatic Dysfunction, And Cardiovascular Malformations |
|
Ventricular septal defect, Portal inflammation, Hepatic bridging fibrosis, Howell-Jolly bodies, P... |
OMIM:613759 |
| Persistent Placoid Maculopathy |
|
Abnormal macular morphology, Retinal pigment epithelial mottling, Choroidal neovascularization, H... |
ORPHA:97341 |
| Floating-Harbor Syndrome |
|
Nephrocalcinosis, Atrial septal defect, Thin vermilion border, Downturned corners of mouth, Wide ... |
OMIM:136140 |
| Polydactyly, Preaxial Iii |
|
Triphalangeal thumb, Preaxial polydactyly |
OMIM:174600 |
| Lethal Congenital Contracture Syndrome 10 |
|
Overlapping fingers, Long philtrum, Talipes equinovarus, Narrow palate, Ventricular septal defect... |
OMIM:617022 |
| Preaxial Polydactyly-Colobomata-Intellectual Disability Syndrome |
|
Retinal coloboma, Chorioretinal coloboma, Preaxial polydactyly, Iris coloboma |
ORPHA:2921 |
| Retinitis Pigmentosa 36 |
|
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Macular degenerati... |
OMIM:610599 |
| Congenital Unilateral Hypoplasia Of Depressor Anguli Oris |
|
Multiple renal cysts, Ventricular septal defect, Abnormal aortic morphology, Tooth agenesis, Vesi... |
ORPHA:1166 |
| Cone-Rod Dystrophy 16 |
|
Macular atrophy, Beaten bronze macular sheen, Attenuation of retinal blood vessels, Postaxial pol... |
OMIM:614500 |
| Oculofaciocardiodental Syndrome |
|
Oligodontia, Intestinal malrotation, Peripheral pulmonary artery stenosis, Patent ductus arterios... |
ORPHA:2712 |
| Heterotaxy, Visceral, 8, Autosomal |
|
Unbalanced atrioventricular canal defect, Ventricular septal defect, Abdominal situs inversus, At... |
OMIM:617205 |
| Microphthalmia, Isolated, With Coloboma 5 |
|
Holoprosencephaly, Bilateral microphthalmos, Oral cleft, Microphthalmia, Anophthalmia |
OMIM:611638 |
| Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3 |
|
Anomalous origin of left coronary artery from the pulmonary artery, Bilateral renal agenesis, Pat... |
OMIM:618845 |
| Disorganization, Mouse, Homolog Of |
|
Limb duplication, Hand polydactyly, Cleft upper lip, Cleft palate, Hip dislocation |
OMIM:223200 |
| Opitz Gbbb Syndrome, Type Ii |
|
Patent ductus arteriosus, High palate, Absent gallbladder, Abnormality of the kidney, Depressed n... |
OMIM:145410 |
| Maternal Phenylketonuria |
|
Long philtrum, Abnormal renal morphology, Deviated nasal septum, Abnormal heart morphology, Ventr... |
ORPHA:2209 |
| Feingold Syndrome 1 |
|
4-5 toe syndactyly, Depressed nasal tip, Accessory spleen, Everted lower lip vermilion, 2-3 toe s... |
OMIM:164280 |
| Holoprosencephaly-Radial Heart Renal Anomalies Syndrome |
|
Hypoplasia of the radius, Holoprosencephaly, Hypoplasia of the ulna, Abnormal localization of kid... |
ORPHA:3186 |
| Trisomy 1Q |
|
Camptodactyly of finger, Preaxial hand polydactyly, Toe syndactyly, Narrow mouth, Ventricular sep... |
ORPHA:261344 |
| Fanconi Anemia |
|
Abnormal carotid artery morphology, Hydroureter, Choanal atresia, Patent ductus arteriosus, Recur... |
ORPHA:84 |
| Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 |
|
Atrial septal defect, Ventricular septal defect, Postaxial polydactyly, Abnormally large globe, V... |
OMIM:603387 |
| Pulmonary Atresia With Ventricular Septal Defect |
|
Pulmonary artery atresia, Ventricular septal defect |
OMIM:178370 |
| Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome |
|
Spina bifida, Ventricular septal defect, Non-midline cleft lip, Anencephaly, Aplasia/Hypoplasia o... |
ORPHA:2476 |
| Gonadal Dysgenesis, Xy Type, With Associated Anomalies |
|
Oral cleft, Broad palm, Cleft upper lip, Abnormal heart morphology |
OMIM:233430 |
| Brachial Amelia, Cleft Lip, And Holoprosencephaly |
|
Short femur, Ventricular septal defect, Foot oligodactyly, Bilateral cleft lip and palate, Cleft ... |
OMIM:601357 |
| Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome |
|
Pseudocoarctation of the aorta, Short 5th metacarpal, Patent ductus arteriosus, Abnormal hand mor... |
ORPHA:228190 |
| Fanconi Anemia, Complementation Group D2 |
|
Patent ductus arteriosus, Duplicated collecting system, Neutropenia, Partial duplication of thumb... |
OMIM:227646 |
| Rhombencephalosynapsis |
|
Abnormal renal morphology, Short nose, Short phalanx of finger, Finger syndactyly, Polydactyly, N... |
ORPHA:59315 |
| Duane-Radial Ray Syndrome |
|
Crossed fused renal ectopia, Choanal stenosis, Optic disc hypoplasia, Choanal atresia, Sandal gap... |
OMIM:607323 |
| Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Misalignment of the pulmonary veins, Hydroureter, Intestinal malrotation, Patent ductus arteriosu... |
OMIM:265380 |
| Delpire-Mcneill Syndrome |
|
Dysphagia, Hip dislocation, Tracheoesophageal fistula, Ventricular septal defect |
OMIM:619083 |
| Velocardiofacial Syndrome |
|
Right aortic arch with mirror image branching, Bulbous nose, Underdeveloped nasal alae, Ventricul... |
OMIM:192430 |
| Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1 |
|
Short nose, Short 5th metacarpal, Sandal gap, Pulmonic stenosis, Perimembranous ventricular septa... |
OMIM:617877 |
| Carpenter Syndrome 1 |
|
Flared iliac wing, Hydroureter, Camptodactyly, Patent ductus arteriosus, Metatarsus adductus, Spi... |
OMIM:201000 |
| Syndactyly-Polydactyly-Earlobe Syndrome |
|
Bifid distal phalanx of toe, Preaxial hand polydactyly, Broad toe, Preaxial foot polydactyly, 1-2... |
OMIM:186350 |
| Apert Syndrome |
|
Anomalous tracheal cartilage, Narrow palate, Choanal atresia, Hydrocephalus, Depressed nasal brid... |
OMIM:101200 |
| Ciliary Dyskinesia, Primary, 39 |
|
Recurrent lower respiratory tract infections, Dextrocardia, Double outlet right ventricle, Bronch... |
OMIM:618254 |
| Preaxial Hallucal Polydactyly |
|
Preaxial hand polydactyly, Preaxial foot polydactyly |
OMIM:601759 |
| Microphthalmia, Isolated, With Coloboma 7 |
|
Coloboma |
OMIM:614497 |
| Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies |
|
Short toe, Pseudocoarctation of the aorta, Short finger, Short 5th metacarpal, Patent ductus arte... |
OMIM:604381 |
| Acropectoral Syndrome |
|
Partial duplication of thumb phalanx, Preaxial polydactyly, Triphalangeal thumb |
OMIM:605967 |
| Burn-Mckeown Syndrome |
|
Thin vermilion border, Atrial septal defect, Short philtrum, Narrow mouth, Underdeveloped nasal a... |
OMIM:608572 |
| Pentalogy Of Cantrell |
|
Atrial septal defect, Renal agenesis, Abnormality of tibia morphology, Ventricular septal defect,... |
ORPHA:1335 |
| Thakker-Donnai Syndrome |
|
Bulbous nose, Narrow mouth, Ventricular septal defect, Downturned corners of mouth, Rectovaginal ... |
ORPHA:1780 |
| Laryngotracheoesophageal Cleft Type 4 |
|
Abnormality of mesentery morphology, Abnormality of the spleen, Laryngomalacia, Tracheal stenosis... |
ORPHA:93941 |
| Distal 22Q11.2 Microdeletion Syndrome |
|
Narrow mouth, Underdeveloped nasal alae, Choanal atresia, Recurrent urinary tract infections, San... |
ORPHA:261330 |
| Oculoauriculovertebral Spectrum With Radial Defects |
|
Triphalangeal thumb, Short mandibular rami, Preaxial hand polydactyly, Distal urethral duplicatio... |
ORPHA:2549 |
| Emanuel Syndrome |
|
Congenital hip dislocation, Dental crowding, Submucous cleft lip, Patent ductus arteriosus, High ... |
ORPHA:96170 |
| Ivic Syndrome |
|
Limited wrist movement, Carpal bone hypoplasia, Intestinal malrotation, Patent ductus arteriosus,... |
OMIM:147750 |
| Axial Mesodermal Dysplasia Spectrum |
|
Morphological abnormality of the gastrointestinal tract, Abnormality of the urinary system, Gastr... |
ORPHA:1834 |
| Kapur-Toriello Syndrome |
|
Overlapping fingers, Camptodactyly of finger, Atrial septal defect, Bulbous nose, Ventricular sep... |
OMIM:244300 |
| Bardet-Biedl Syndrome 7 |
|
Polydactyly, Rod-cone dystrophy |
OMIM:615984 |
| Intellectual Disability, Wolff Type |
|
Camptodactyly of finger, Broad thumb, Bulbous nose, Thick lower lip vermilion, Large hands, Non-m... |
ORPHA:3080 |
| Congenital Heart Defects, Multiple Types, 7 |
|
Aortopulmonary collateral arteries, Double aortic arch, Pulmonic stenosis, Absence of the pulmona... |
OMIM:618780 |
| Microphthalmia, Isolated 4 |
|
Postaxial polydactyly, Microphthalmia, Coloboma |
OMIM:613094 |
| Johnson Neuroectodermal Syndrome |
|
Carious teeth, Choanal stenosis, Ventricular septal defect, Anosmia, Patent ductus arteriosus, Cl... |
OMIM:147770 |
| 17Q21.31 Microduplication Syndrome |
|
Short philtrum, Toe syndactyly, Short nose, Abnormality of the dentition, Sandal gap, High palate... |
ORPHA:217340 |
| X-Linked Intellectual Disability, Siderius Type |
|
Preaxial hand polydactyly, Large hands, Oral cleft, Cleft upper lip, Broad nasal tip |
ORPHA:85287 |
| Chromosome 16P13.3 Duplication Syndrome |
|
Atrial septal defect, Short nose, Short phalanx of finger, Bulbous nose, Ventricular septal defec... |
OMIM:613458 |
| Aminopterin/Methotrexate Embryofetopathy |
|
Situs inversus totalis, Ventricular septal defect, Finger syndactyly, Mesomelia, Non-midline clef... |
ORPHA:1908 |
| Triphalangeal Thumb, Nonopposable |
|
Polydactyly, Triphalangeal thumb |
OMIM:190600 |
| Cardiomyopathy, Dilated, 1S |
|
Pulmonary artery hypoplasia, Bicuspid aortic valve, Coarctation of aorta, Dilated cardiomyopathy,... |
OMIM:613426 |
| Orofaciodigital Syndrome Type 5 |
|
Enamel hypoplasia, Postaxial polysyndactyly of foot, Crossed fused renal ectopia, Abnormality of ... |
ORPHA:2919 |
| Mullegama-Klein-Martinez Syndrome |
|
Long philtrum, Short philtrum, Bulbous nose, Polydactyly, Coarctation of aorta, Smooth philtrum, ... |
OMIM:301022 |
| Chromosome 13Q33-Q34 Deletion Syndrome |
|
Open mouth, Camptodactyly, Patent ductus arteriosus, Choanal atresia, Anencephaly, Short thumb, H... |
OMIM:619148 |
| Pallister-Hall Syndrome |
|
Y-shaped metacarpals, Hydroureter, Natal tooth, Choanal atresia, Patent ductus arteriosus, Mesoax... |
OMIM:146510 |
| Seckel Syndrome 9 |
|
Convex nasal ridge, Atrial septal defect, Ventricular septal defect, Recurrent urinary tract infe... |
OMIM:616777 |
| 8P23.1 Microdeletion Syndrome |
|
Broad thumb, Short nose, Abnormal aortic morphology, Broad hallux phalanx, Patent ductus arterios... |
ORPHA:251071 |
| Nail-Patella Syndrome |
|
Keratoconus, Spina bifida, Limited elbow extension, Triceps aplasia, Biceps aplasia, Talipes equi... |
OMIM:161200 |
| Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome |
|
Developmental cataract, Coloboma, Retinal dysplasia, Ocular anterior segment dysgenesis, Micropht... |
ORPHA:324416 |
| Pagod Syndrome |
|
Situs inversus totalis, Abnormal aortic morphology, Pulmonary artery hypoplasia, Multicystic kidn... |
ORPHA:991 |
| Acropectoral Syndrome |
|
Preaxial hand polydactyly, Finger syndactyly |
ORPHA:85203 |
| Orofaciodigital Syndrome Vi |
|
Preaxial hand polydactyly, Toe syndactyly, Broad nasal tip, Central Y-shaped metacarpal, Tongue n... |
OMIM:277170 |
| Bardet-Biedl Syndrome 11 |
|
Polydactyly, Retinopathy |
OMIM:615988 |
| Fallot Complex With Severe Mental And Growth Retardation |
|
Pulmonic stenosis, Tetralogy of Fallot, Double outlet right ventricle, Ventricular septal defect |
OMIM:601127 |
| Hydrolethalus Syndrome 2 |
|
Postaxial polydactyly, Preaxial polydactyly, Hydrocephalus, Anencephaly |
OMIM:614120 |
| Nanophthalmos |
|
Abnormal choroid morphology, Abnormality of retinal pigmentation, Microphthalmia |
ORPHA:35612 |
| Mental Retardation, X-Linked 91 |
|
Cubitus valgus, Short nose, Clinodactyly, Small hand, Short foot, High palate, Short 5th finger, ... |
OMIM:300577 |
| Autosomal Recessive Amelia |
|
Acromelia of the lower limbs, Amelia involving the upper limbs, Non-midline cleft lip, Oral cleft... |
ORPHA:1027 |
| Opitz Gbbb Syndrome |
|
Natal tooth, Patent ductus arteriosus, Vesicoureteral reflux, Aortic root aneurysm, Patent forame... |
ORPHA:2745 |
| Hydrolethalus |
|
Postaxial hand polydactyly, Arrhinencephaly, Micromelia, Tracheal atresia, Anencephaly, Gingival ... |
ORPHA:2189 |
| Tetralogy Of Fallot |
|
Thin vermilion border, Tetralogy of Fallot, Clinodactyly of the 5th finger, Brachydactyly, Abnorm... |
ORPHA:3303 |
| Familial Median Cleft Of The Upper And Lower Lips |
|
Fusion of gums, Diastema, Irregular dentition, Cleft lower lip, Cleft upper lip, Median cleft lip |
ORPHA:401942 |
| Structural Heart Defects And Renal Anomalies Syndrome |
|
Tricuspid atresia, Atrial septal defect, Truncus arteriosus, Interrupted aortic arch, Ventricular... |
OMIM:617478 |
| Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Carious teeth, Narrow mouth, Downturned corners of mouth, Abnormal aortic arch morphology, Abnorm... |
ORPHA:1110 |
| Brachydactyly, Coloboma, And Anterior Segment Dysgenesis |
|
Coloboma, Iris coloboma, Ocular anterior segment dysgenesis, Peters anomaly, Syndactyly, Clinodac... |
OMIM:610023 |
| Vater/Vacterl Association |
|
Choanal atresia, Patent ductus arteriosus, Absent radius, Vesicoureteral reflux, Short thumb, Tri... |
OMIM:192350 |
| Facial Clefting, Oblique, 1 |
|
Deep palmar crease, Facial cleft, Cleft upper lip, Cleft palate |
OMIM:600251 |
| Bardet-Biedl Syndrome 5 |
|
Polydactyly, Syndactyly, Brachydactyly, Rod-cone dystrophy, Macular dystrophy |
OMIM:615983 |
| Fryns Microphthalmia Syndrome |
|
Bilateral cleft lip and palate, Anophthalmia, Microphthalmia, Neural tube defect |
OMIM:600776 |
| Anterior Segment Dysgenesis 2 |
|
Aniridia, Congenital aphakia, Anterior segment of eye aplasia, Coloboma, Cataract, Peters anomaly... |
OMIM:610256 |
| Autosomal Dominant Keratitis |
|
Aniridia, Coloboma, Bilateral microphthalmos, Macular hypoplasia, Cataract, Keratitis, Microcorne... |
ORPHA:2334 |
| Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Natal tooth, Hamartoma of tongue, Postaxial polydactyly, Narrow greater sciatic notch, Absent gal... |
OMIM:617925 |
| Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Mental Retardation |
|
Hematuria, Microphthalmia, Cleft upper lip, Cleft palate |
OMIM:120433 |
| Dextrocardia |
|
Meckel diverticulum, Abnormal renal morphology, Situs inversus totalis, Congenital hip dislocatio... |
ORPHA:1666 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
|
Buphthalmos, Retinal atrophy, Coloboma, Retinal degeneration, Retinal dysplasia, Cataract, Megalo... |
OMIM:253280 |
| Hardikar Syndrome |
|
Ventricular septal defect, Hydroureter, Coarctation of aorta, Portal hypertension, Intestinal mal... |
OMIM:612726 |
| Burn-Mckeown Syndrome |
|
Short nose, Bilateral choanal atresia, Wide nasal bridge, Abnormal cardiac septum morphology, Pro... |
ORPHA:1200 |
| Central Areolar Choroidal Dystrophy |
|
Macular atrophy, Perifoveal ring of hyperautofluorescence, Foveal photoreceptor outer segment los... |
ORPHA:75377 |
| Frontofacionasal Dysplasia |
|
Short nose, Depressed nasal ridge, Choanal atresia, Non-midline cleft lip, Cleft palate, Micropht... |
ORPHA:1791 |
| Robinow Syndrome, Autosomal Dominant 3 |
|
Broad thumb, Hypoplastic right heart, Short phalanx of finger, Downturned corners of mouth, Campt... |
OMIM:616894 |
| Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
Polydactyly, Postaxial polydactyly, Short distal phalanx of finger, Flat acetabular roof, High pa... |
OMIM:614091 |
| Albinism, Oculocutaneous, Type Iv |
|
Hypopigmentation of hair, Albinism, Macular hypoplasia, Hypopigmentation of the fundus, Blue irides |
OMIM:606574 |
| Frontonasal Dysplasia 3 |
|
Underdeveloped nasal alae, Wide nasal bridge, Microphthalmia, Cleft palate, Facial cleft |
OMIM:613456 |
| Recombinant 8 Syndrome |
|
Camptodactyly of finger, Atrial septal defect, Downturned corners of mouth, Ventricular septal de... |
ORPHA:96167 |
| Ectodermal Dysplasia Syndrome With Distinctive Facial Appearance And Preaxial Polydactyly Of Feet |
|
Enamel hypoplasia, Carious teeth, Midline notch of upper alveolar ridge, Complete duplication of ... |
OMIM:129540 |
| Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta |
|
Anomalous origin of right pulmonary artery from ascending aorta, Atrial septal defect, Anomalous ... |
ORPHA:99050 |
| Constricting Bands, Congenital |
|
Hand polydactyly, Ectopia cordis, Syndactyly, Bladder exstrophy, Cleft palate, Cleft upper lip, T... |
OMIM:217100 |
| Pseudotrisomy 13 Syndrome |
|
Median cleft lip and palate, Tricuspid atresia, Atrial septal defect, Postaxial hand polydactyly,... |
OMIM:264480 |
| Odontochondrodysplasia 1 |
|
Nephronophthisis, Short phalanx of finger, Flared iliac wing, Flat acetabular roof, Small epiphys... |
OMIM:184260 |
| Short-Rib Thoracic Dysplasia 18 With Polydactyly |
|
Preaxial polydactyly, Postaxial polydactyly, Hypoplastic ischia, Syndactyly, Polycystic kidney dy... |
OMIM:617866 |
| Acromelic Frontonasal Dysostosis |
|
Broad nasal tip, Polydactyly, Midline defect of the nose, Preaxial polydactyly, Wide nasal bridge... |
OMIM:603671 |
| X-Linked Retinal Dysplasia |
|
Retinal dysplasia, Abnormality of retinal pigmentation, Abnormal retinal vascular morphology |
ORPHA:1852 |
| Renpenning Syndrome |
|
Short philtrum, Abnormal thumb morphology, Narrow mouth, High, narrow palate, Anal atresia, Heter... |
ORPHA:3242 |
| Femoral-Facial Syndrome |
|
Short fifth metatarsal, Abnormal renal collecting system morphology, Underdeveloped nasal alae, M... |
OMIM:134780 |
| 22Q11.2 Duplication Syndrome |
|
Interrupted aortic arch, Ventricular septal defect, Aplasia/Hypoplasia of the thymus, Abnormality... |
ORPHA:1727 |
| Acrofacial Dysostosis, Weyers Type |
|
Overlapping fingers, Postaxial hand polydactyly, Abnormality of the dentition, Hypodontia, Solita... |
ORPHA:952 |
| Macular Dystrophy, Retinal, 2 |
|
Retinal pigment epithelial atrophy, Perifoveal ring of hyperautofluorescence, Granular macular ap... |
OMIM:608051 |
| Cardiac, Facial, And Digital Anomalies With Developmental Delay |
|
Abnormal heart morphology, Patent ductus arteriosus, Pulmonic stenosis, Clinodactyly, Double outl... |
OMIM:618164 |
| Marden-Walker Syndrome |
|
Long philtrum, Talipes equinovarus, Narrow mouth, Anteverted nares, Zollinger-Ellison syndrome, R... |
OMIM:248700 |
| Retinopathy, Pericentral Pigmentary, Dominant |
|
Retinal atrophy, Pigmentary retinopathy, Attenuation of retinal blood vessels, Retinal dystrophy,... |
OMIM:180210 |
| Bardet-Biedl Syndrome 22 |
|
Polydactyly, Rod-cone dystrophy |
OMIM:617119 |
| Larsen-Like Osseous Dysplasia-Short Stature Syndrome |
|
Hip dysplasia, Short nose, Abnormality of the metacarpal bones, Abnormality of pelvic girdle bone... |
ORPHA:2370 |
| Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome |
|
Camptodactyly of finger, Pectoral muscle hypoplasia/aplasia, Underdeveloped nasal alae, Finger cl... |
ORPHA:306542 |
| Weill-Marchesani Syndrome 3 |
|
Shallow anterior chamber, Brachydactyly, Ectopia lentis, Microspherophakia |
OMIM:614819 |
| Diabetic Embryopathy |
|
Ventricular septal defect, Abnormal aortic morphology, Spinal dysraphism, Ureteral duplication, H... |
ORPHA:1926 |
| Partial Atrioventricular Septal Defect |
|
Anomalous pulmonary venous return, Abnormal tricuspid valve morphology, Bacterial endocarditis, C... |
ORPHA:1330 |
| Stargardt Disease |
|
Retinal pigment epithelial mottling, Retinal pigment epithelial atrophy, Abnormal foveal morpholo... |
ORPHA:827 |
| Microspherophakia And/Or Megalocornea, With Ectopia Lentis And With Or Without Secondary Glaucoma |
|
Ectopia lentis, Microspherophakia, Deep anterior chamber, Iridodonesis, Megalocornea |
OMIM:251750 |
| Lissencephaly Syndrome, Norman-Roberts Type |
|
Rocker bottom foot, Atrial septal defect, Dysphagia, Hypoplastic spleen, Wide nasal bridge, Paten... |
ORPHA:89844 |
| Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Squared iliac bones, Hypoplastic pelvis, Renal hypoplasia, Rhizomelia, Preaxial polydactyly, Pate... |
OMIM:616300 |
| Microcephaly, Corpus Callosum Dysgenesis, And Cleft Lip/Palate |
|
Preaxial hand polydactyly, Cleft upper lip, Cleft palate |
OMIM:601420 |
| Greig Cephalopolysyndactyly Syndrome |
|
Postaxial hand polydactyly, Broad thumb, Preaxial hand polydactyly, Toe syndactyly, Finger syndac... |
ORPHA:380 |
| Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects |
|
Unilateral renal agenesis, Esophageal atresia, Choanal atresia, Duodenal atresia, Muscular ventri... |
OMIM:619227 |
| Craniosynostosis With Anomalies Of The Cranial Base And Digits |
|
Proximal placement of hallux, Preaxial foot polydactyly, Absent middle phalanx of 5th finger, Abs... |
OMIM:218530 |
| Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly |
|
Bulbous nose, Renal hypoplasia, 2-3 toe syndactyly, Single transverse palmar crease, Brachydactyl... |
OMIM:236500 |
| Keutel Syndrome |
|
Short hallux, Recurrent bronchitis, Epiphyseal stippling, Premature fusion of phalangeal epiphyse... |
OMIM:245150 |
| Thoracoabdominal Syndrome |
|
Patent ductus arteriosus, Anencephaly, Ectopia cordis, Cleft palate, Pulmonary hypoplasia, Cleft ... |
OMIM:313850 |
| Bardet-Biedl Syndrome 6 |
|
Polydactyly, Syndactyly, Rod-cone dystrophy, Retinal dystrophy |
OMIM:605231 |
| Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly |
|
Ventricular septal defect, Absent pulmonary artery, Split hand, Coarctation of aorta, Patent duct... |
OMIM:600460 |
| Simpson-Golabi-Behmel Syndrome, Type 2 |
|
Congenital hip dislocation, Pneumonia, High palate, Micropenis, Wide nose, Recurrent upper respir... |
OMIM:300209 |
| Meier-Gorlin Syndrome 7 |
|
Atrial septal defect, Narrow mouth, Anal stenosis, Ventricular septal defect, Complete atrioventr... |
OMIM:617063 |
| Oculocutaneous Albinism Type 6 |
|
Abnormal fundus morphology, Abnormal foveal morphology on macular OCT, Abnormal iris pigmentation... |
ORPHA:370097 |
| Acro-Renal-Mandibular Syndrome |
|
Short philtrum, Hypoplasia of the radius, Rudimentary fibula, Finger syndactyly, Split hand, High... |
ORPHA:958 |
| Charge Syndrome |
|
Choanal atresia, Patent ductus arteriosus, Double outlet right ventricle, Absent radius, Short th... |
OMIM:214800 |
| Bardet-Biedl Syndrome 12 |
|
Polydactyly, Rod-cone dystrophy |
OMIM:615989 |
| Foveal Hypoplasia 2 |
|
Posterior embryotoxon, Axenfeld anomaly, Foveal hyperpigmentation, Optic nerve misrouting, Microp... |
OMIM:609218 |
| Ring Chromosome 8 Syndrome |
|
Short nose, Abnormality of the ureter, Hydronephrosis, Anteverted nares, Deviation of finger |
ORPHA:1450 |
| Van Der Woude Syndrome 2 |
|
Cleft palate, Cleft upper lip, Anodontia |
OMIM:606713 |
| Cayler Cardiofacial Syndrome |
|
Tetralogy of Fallot, Patent ductus arteriosus, Ventricular septal defect |
OMIM:125520 |
| Heterotaxy, Visceral, 1, X-Linked |
|
Posteriorly placed anus, Atrial septal defect, Horseshoe kidney, Single ventricle, Ventricular se... |
OMIM:306955 |
| Congenitally Corrected Transposition Of The Great Arteries |
|
Single ventricle, Patent ductus arteriosus, Atrial situs ambiguous, Dextrocardia, Gerbode ventric... |
ORPHA:216694 |
| Microphthalmia With Limb Anomalies |
|
Thin vermilion border, Tarsal synostosis, Broad thumb, Elbow dislocation, Bilateral single transv... |
ORPHA:1106 |
| 3P25.3 Microdeletion Syndrome |
|
Broad thumb, Downturned corners of mouth, Pyloric stenosis, Patent ductus arteriosus, Postaxial p... |
ORPHA:435638 |
| Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome |
|
Abnormality of retinal pigmentation, Optic atrophy, Microphthalmia |
ORPHA:1574 |
| Stankiewicz-Isidor Syndrome |
|
Truncus arteriosus, Ventricular septal defect, 2-3 toe syndactyly, Patent ductus arteriosus, Shor... |
OMIM:617516 |
| Venous Malformations, Multiple Cutaneous And Mucosal |
|
Venous malformation, Abnormality of the mouth, Intestinal bleeding |
OMIM:600195 |
| Fraser Syndrome 1 |
|
Underdeveloped nasal alae, Choanal stenosis, Dental crowding, Anophthalmia, Renal hypoplasia/apla... |
OMIM:219000 |
| Charlie M Syndrome |
|
Short philtrum, Thin vermilion border, Narrow mouth, Finger syndactyly, Split hand, Non-midline c... |
ORPHA:1406 |
| Adams-Oliver Syndrome |
|
Absent hand, Cirrhosis, Gastrointestinal hemorrhage, Finger syndactyly, Split hand, Esophageal va... |
ORPHA:974 |
| Ectrodactyly Of Lower Limbs, Congenital Heart Defect, And Micrognathia |
|
Tetralogy of Fallot, Split foot, Hypoplastic right heart, Ventricular septal defect |
OMIM:601348 |
| Microphthalmia-Microtia-Fetal Akinesia Syndrome |
|
Camptodactyly of finger, Short nose, Hydroureter, Patent ductus arteriosus, Symphalangism affecti... |
ORPHA:2547 |
| Acrofacial Dysostosis, Catania Type |
|
Carious teeth, Short nose, Finger syndactyly, Abnormal palate morphology, Smooth philtrum, Bilate... |
ORPHA:1786 |
| Hemifacial Microsomia |
|
Branchial anomaly, Ventricular septal defect, Coarctation of aorta, Patent ductus arteriosus, Wid... |
OMIM:164210 |
| Primary Pulmonary Hypoplasia |
|
Secundum atrial septal defect, Abnormal pulmonary artery morphology, Dextrocardia, Pulmonary hypo... |
ORPHA:2257 |
| Congenital Laryngomalacia |
|
Laryngomalacia, Non-midline cleft lip, Cleft palate |
ORPHA:2373 |
| Xk Aprosencephaly Syndrome |
|
Abnormal morphology of the radius, Atrial septal defect, Narrow mouth, Ventricular septal defect,... |
ORPHA:3469 |
| Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome |
|
Cataract, Genu valgum, Aplasia/Hypoplasia of the lens |
ORPHA:1381 |
| Heterotaxy, Visceral, 5, Autosomal |
|
Dextrocardia, Atrial septal defect, Transposition of the great arteries, Ventricular septal defect |
OMIM:270100 |
| Coloboma Of Macula With Type B Brachydactyly |
|
Coloboma, Bifid distal phalanx of the thumb, Type B brachydactyly, Broad distal phalanx of the th... |
OMIM:120400 |
| Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Broad thumb, Pelvic kidney, Long philtrum, Preaxial hand polydactyly, Truncus arteriosus, Thin up... |
ORPHA:508498 |
| Fadd-Related Immunodeficiency |
|
Pulmonary artery atresia, Hepatic fibrosis, Ventricular septal defect |
ORPHA:306550 |
| Hereditary Mucoepithelial Dysplasia |
|
Hematuria, Pulmonary fibrosis, Recurrent respiratory infections, Abnormality of the bladder, Furr... |
ORPHA:1839 |
| Cerebrooculofacioskeletal Syndrome 3 |
|
Talipes equinovarus, Rocker bottom foot, Microphthalmia, Cleft palate |
OMIM:616570 |
| Linear Skin Defects With Multiple Congenital Anomalies 2 |
|
Long philtrum, Ventricular hypertrophy, Atrial septal defect, Short nose, Sandal gap, Tetralogy o... |
OMIM:300887 |
| Microphthalmia, Isolated, With Coloboma 4 |
|
Microcornea, Microphthalmia, Coloboma |
OMIM:251505 |
| Serkal Syndrome |
|
Malrotation of small bowel, Hypoplasia of the bladder, Ventricular septal defect, Abnormal penis ... |
ORPHA:139466 |
| Aortic Arch Anomaly With Peculiar Facies And Mental Retardation |
|
Right aortic arch with mirror image branching |
OMIM:107500 |
| Phaver Syndrome |
|
Camptodactyly of finger, Broad thumb, Radioulnar synostosis, Ventricular septal defect, Broad hal... |
ORPHA:2876 |
| Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects |
|
Bulbous nose, Clinodactyly, Patent foramen ovale, Talipes equinovarus, Transposition of the great... |
OMIM:616789 |
| Isolated Aniridia |
|
Aniridia, Peters anomaly, Cataract, Aplasia/Hypoplasia of the macula |
ORPHA:250923 |
| Meckel Syndrome, Type 4 |
|
Atrial septal defect, Postaxial hand polydactyly, Ventricular septal defect, Bowing of the long b... |
OMIM:611134 |
| Tetralogy Of Fallot |
|
Tetralogy of Fallot, Clinodactyly of the 5th finger |
OMIM:187500 |
| Meckel Syndrome, Type 6 |
|
Postaxial hand polydactyly, Hand polydactyly, Anencephaly, Pulmonary hypoplasia, Renal cyst, Clef... |
OMIM:612284 |
| Penile Agenesis |
|
Hydroureter, Bilateral renal agenesis, Abnormality of the bladder, Bilateral renal hypoplasia, De... |
ORPHA:49 |
| Infantile Myofibromatosis |
|
Abnormality of the kidney, Gingival fibromatosis, Neoplasm of the lung, Abnormality of the metaph... |
ORPHA:2591 |
| Developmental Delay With Or Without Dysmorphic Facies And Autism |
|
Bulbous nose, Laryngotracheomalacia, Patent ductus arteriosus, Vesicoureteral reflux, Patent fora... |
OMIM:618454 |
| Bardet-Biedl Syndrome 17 |
|
Situs inversus totalis, Mesoaxial polydactyly, Polydactyly, Dextrocardia, Renal cyst, Stage 5 chr... |
OMIM:615994 |
| Mosaic Trisomy 16 |
|
Short forearm, Patent ductus arteriosus, Short thumb, Short femoral neck, Abnormality of the gast... |
ORPHA:1708 |
| Fibular Hemimelia |
|
Hip subluxation, Bowing of the legs, Anophthalmia, Abnormality of fibula morphology, Arthralgia o... |
ORPHA:93323 |
| Congenital Radioulnar Synostosis |
|
Dislocated radial head, Abnormal morphology of the radius, Radioulnar synostosis, Congenital hip ... |
ORPHA:3269 |
| Orofaciodigital Syndrome Viii |
|
Broad nasal tip, Polydactyly, Short tibia, Hypoplasia of the epiglottis, Syndactyly, Cleft palate... |
OMIM:300484 |
| Eye Defects-Arachnodactyly-Cardiopathy Syndrome |
|
Radioulnar synostosis, Bowing of the long bones, Non-midline cleft lip, Sandal gap, Aplasia/Hypop... |
ORPHA:2725 |
| Vacterl With Hydrocephalus |
|
Spina bifida, Hypoplasia of the radius, Renal agenesis, Arrhinencephaly, Esophageal atresia, Aque... |
ORPHA:3412 |
| Spina Bifida-Hypospadias Syndrome |
|
Spina bifida, Spinal dysraphism |
ORPHA:3176 |
| Treacher-Collins Syndrome |
|
Open bite, Abnormal dental enamel morphology, Narrow mouth, Abnormality of dental morphology, Cho... |
ORPHA:861 |
| Charge Syndrome |
|
Abnormality of tibia morphology, Narrow mouth, Choanal atresia, Patent ductus arteriosus, Vesicou... |
ORPHA:138 |
| Tonne-Kalscheuer Syndrome |
|
Broad thumb, Narrow mouth, Downturned corners of mouth, Abnormal heart morphology, Dysphagia, Wid... |
OMIM:300978 |
| Camptosynpolydactyly, Complex |
|
Polydactyly, Camptodactyly, Syndactyly, Cutaneous syndactyly |
OMIM:607539 |
| 8P23.1 Duplication Syndrome |
|
Long philtrum, Toe syndactyly, Ventricular septal defect, Thick vermilion border, Pulmonic stenos... |
ORPHA:251076 |
| Baraitser-Winter Syndrome 1 |
|
Long philtrum, Short nose, Micropenis, Duplication of phalanx of hallux, Patent ductus arteriosus... |
OMIM:243310 |
| Cleft Lip-Retinopathy Syndrome |
|
Abnormality of retinal pigmentation, Retinopathy |
ORPHA:1995 |
| Microcephaly And Chorioretinopathy, Autosomal Recessive, 1 |
|
Abnormality of skin pigmentation, Abnormality of retinal pigmentation, Chorioretinal dysplasia, R... |
OMIM:251270 |
| Weyers Ulnar Ray/Oligodactyly Syndrome |
|
Hypoplasia of the radius, Mesomelia, Solitary median maxillary central incisor, Hydronephrosis, H... |
OMIM:602418 |
| Alar Cartilages Hypoplasia-Coloboma-Telecanthus Syndrome |
|
Convex nasal ridge, Underdeveloped nasal alae, Cleft ala nasi, Non-midline cleft lip, Wide nasal ... |
ORPHA:2007 |
| Ververi-Brady Syndrome |
|
Bulbous nose, Metaphyseal irregularity, Wide nose, Broad nasal tip, Clinodactyly of the 5th finge... |
OMIM:617982 |
| Prune Belly Syndrome |
|
Congenital hip dislocation, Hydroureter, Intestinal malrotation, Patent ductus arteriosus, Recurr... |
ORPHA:2970 |
| Otopalatodigital Syndrome Type 2 |
|
Oligodontia, Tarsal synostosis, Narrow mouth, Flared iliac wing, Elbow dislocation, Hypoplastic f... |
ORPHA:90652 |
| Thanatophoric Dysplasia |
|
Abnormal ilium morphology, Hip dysplasia, Abnormal sacroiliac joint morphology, Atrial septal def... |
ORPHA:2655 |
| Feingold Syndrome Type 1 |
|
Gastrointestinal atresia, Patent ductus arteriosus, Vesicoureteral reflux, Short thumb, Multiple ... |
ORPHA:391641 |
| Goiter, Multinodular, Cystic Renal Disease, And Digital Anomalies |
|
Postaxial hand polydactyly, Preaxial foot polydactyly, Bilateral triphalangeal thumbs, Renal cyst |
OMIM:138790 |
| Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome |
|
Triphalangeal thumb, Postaxial hand polydactyly, Preaxial foot polydactyly, Multicystic kidney dy... |
ORPHA:2091 |
| Split hand/foot malformation 1 (SHFM1) |
|
Toe syndactyly, Split hand, Abnormality of the urinary system, 2-3 toe syndactyly, Cutaneous fing... |
DECIPHER:46 |
| Ankyloblepharon Filiforme Adnatum-Imperforate Anus Syndrome |
|
Cleft palate, Non-midline cleft lip, Tooth agenesis |
ORPHA:1074 |
| Heart And Brain Malformation Syndrome |
|
Camptodactyly of finger, Interrupted aortic arch, Ventricular septal defect, Everted lower lip ve... |
OMIM:616920 |
| 22Q11.2 Deletion Syndrome |
|
Carious teeth, Abnormal dental enamel morphology, Bulbous nose, Narrow mouth, Choanal atresia, In... |
ORPHA:567 |
| Diprosopus |
|
Abnormal cardiac septum morphology, Non-midline cleft lip, Anencephaly, Cleft palate |
ORPHA:1681 |
| Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect |
|
Preaxial foot polydactyly, Polysyndactyly of hallux, Ventricular septal defect |
OMIM:235750 |
| Mckusick-Kaufman Syndrome |
|
Tarsal synostosis, Patent ductus arteriosus, Abnormality of the metacarpal bones, Renal hypoplasi... |
ORPHA:2473 |
| Bardet-Biedl Syndrome 10 |
|
Polydactyly, Renal insufficiency, Renal cyst, Abnormality of the kidney |
OMIM:615987 |
| Orofaciodigital Syndrome V |
|
Postaxial hand polydactyly, Horseshoe kidney, Aganglionic megacolon, Postaxial foot polydactyly, ... |
OMIM:174300 |
| Verheij Syndrome |
|
Long philtrum, Short nose, Renal hypoplasia, Wide nasal bridge, Thin upper lip vermilion, Clinoda... |
OMIM:615583 |
| Congenital Hypothyroidism |
|
Macroglossia, Abnormality of epiphysis morphology, Anosmia, Abnormal pericardium morphology, Sinu... |
ORPHA:442 |
| Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Ventricular septal defect, Polydactyly, Smooth philtrum, Syndactyly, Nephroblastoma, Microphthalm... |
OMIM:602501 |
| Distal Trisomy 14Q |
|
Abnormal aortic morphology, Patent ductus arteriosus, Abnormality of the upper urinary tract, Abn... |
ORPHA:1705 |
| Hyperreflexia |
|
Abnormality of retinal pigmentation |
OMIM:145290 |
| Retinitis Pigmentosa 39 |
|
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy |
OMIM:613809 |
| Bardet-Biedl Syndrome 9 |
|
Postaxial hand polydactyly, Attenuation of retinal blood vessels, Polydactyly, Postaxial polydact... |
OMIM:615986 |
| Meacham Syndrome |
|
Pulmonary sequestration, Anomalous pulmonary venous return, Atrial septal defect, Situs inversus ... |
ORPHA:3097 |
| Grouped Pigmentation Of The Retina |
|
Abnormality of retinal pigmentation |
OMIM:233800 |
| Meckel Syndrome, Type 5 |
|
Postaxial hand polydactyly, Abnormality of the urinary system, Bowing of the long bones, Anenceph... |
OMIM:611561 |
| Hyperlysinemia |
|
Recurrent pneumonia, Decreased urine alpha-ketoglutarate concentration, Dysphagia, Gastroesophage... |
ORPHA:2203 |
| Cleft Lip/Palate With Characteristic Facies, Intestinal Malrotation, And Lethal Congenital Heart Disease |
|
Abnormality of the tongue, Broad palm, Intestinal malrotation, Bilateral cleft lip and palate, Ab... |
OMIM:601165 |
| Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Duplicated collecting system, Double outlet right ventricle, Vesicoureteral reflux, Leukopenia, M... |
OMIM:301056 |
| Renal Agenesis, Bilateral |
|
Sirenomelia, Non-midline cleft lip, Pulmonary hypoplasia, Cleft palate, Renal agenesis, Abnormal ... |
ORPHA:1848 |
| Weiss-Kruszka Syndrome |
|
Short nose, Anteverted nares, Ventricular septal defect, Single transverse palmar crease, Left ve... |
OMIM:618619 |
| Hyperphosphatasia With Mental Retardation Syndrome 1 |
|
Short toe, Abnormal renal morphology, Short philtrum, Short nose, Broad nasal tip, Abnormal heart... |
OMIM:239300 |
| Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction |
|
Atrial septal defect, Contractures of the interphalangeal joint of the thumb, Short nose, Bulbous... |
OMIM:613870 |
| Microphthalmia, Syndromic 8 |
|
Oral cleft, Split foot, Microphthalmia, Cleft upper lip, Cleft palate, Widely-spaced maxillary ce... |
OMIM:601349 |
| Isotretinoin-Like Syndrome |
|
Abnormality of the pulmonary veins, Thin anteverted nares, Abnormal aortic arch morphology, Gastr... |
ORPHA:2306 |
| Greig Cephalopolysyndactyly Syndrome |
|
Postaxial hand polydactyly, Broad thumb, 1-3 toe syndactyly, Preaxial hand polydactyly, Abnormal ... |
OMIM:175700 |
| Atelosteogenesis, Type Ii |
|
Dumbbell-shaped femur, Hitchhiker thumb, Short middle phalanx of finger, Short greater sciatic no... |
OMIM:256050 |
| Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome |
|
Finger syndactyly, Upper limb asymmetry, Aplasia/Hypoplasia of the radius, Pulmonary hypoplasia, ... |
ORPHA:2141 |
| Faciothoracogenital Syndrome |
|
Glandular hypospadias, Long philtrum, Smooth philtrum, Thin upper lip vermilion, Microphthalmia, ... |
OMIM:227320 |
| Heterotaxy, Visceral, 6, Autosomal |
|
Dextrocardia, Transposition of the great arteries |
OMIM:614779 |
| 20Q13.33 Microdeletion Syndrome |
|
Abnormality of limb bone morphology, Thin vermilion border, Atrial septal defect, Bulbous nose, H... |
ORPHA:261311 |
| Nephronophthisis 16 |
|
Nephronophthisis, Situs inversus totalis, Enlarged kidney, Patent ductus arteriosus, Cholestasis,... |
OMIM:615382 |
| Ankyloblepharon Filiforme Adnatum And Cleft Palate |
|
Cleft upper lip, Cleft palate |
OMIM:106250 |
| 3C Syndrome |
|
Intestinal malrotation, Oral cleft, High, narrow palate, Depressed nasal bridge, Abnormal tricusp... |
ORPHA:7 |
| Heart Defects, Congenital, And Other Congenital Anomalies |
|
Intestinal malrotation, Patent ductus arteriosus, Pancreatic hypoplasia, Microcolon, Pulmonary ar... |
OMIM:600001 |
| Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Hamartoma of tongue, Intestinal malrotation, Postaxial polydactyly, Short digit, Micropenis, Femo... |
OMIM:613091 |
| Phocomelia, Schinzel Type |
|
Radial bowing, Hypoplasia of the radius, Abnormality of tibia morphology, Humeroradial synostosis... |
ORPHA:2879 |
| Cutis Laxa, Autosomal Recessive, Type Ic |
|
Sandal gap, Long philtrum, Emphysema, Gastroesophageal reflux, Bronchomalacia, Umbilical hernia, ... |
OMIM:613177 |
| Combined Oxidative Phosphorylation Deficiency 25 |
|
Long philtrum, Short nose, Vascular dilatation, Wide nasal bridge, Anteverted nares, Depressed na... |
OMIM:616430 |
| Heart Defects-Limb Shortening Syndrome |
|
Atrial septal defect, Abnormal mitral valve morphology, Abnormal tricuspid valve morphology, Vent... |
ORPHA:1354 |
| Congenital Heart Defects, Multiple Types, 5 |
|
Atrial septal defect, Ventricular septal defect, Aortic valve stenosis, Double outlet right ventr... |
OMIM:617912 |
| Deafness, Onychodystrophy, Osteodystrophy, Mental Retardation, And Seizures Syndrome |
|
Bulbous nose, Open mouth, Downturned corners of mouth, Patent ductus arteriosus, Short distal pha... |
OMIM:220500 |
| Orofaciodigital Syndrome Type 10 |
|
Mesomelic arm shortening, Radial deviation of the hand, Prominent calcaneus, Oligodactyly, Tarsal... |
ORPHA:2756 |
| Congenital Heart Defects, Multiple Types, 4 |
|
Ventricular septal defect, Aortic valve stenosis, Hypoplastic left heart, Coarctation of aorta, A... |
OMIM:615779 |
| Bartsocas-Papas Syndrome 1 |
|
Short phalanx of finger, Underdeveloped nasal alae, Absent radius, Short thumb, Absent palmar cre... |
OMIM:263650 |
| Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Short femur, Short nose, Anteverted nares, Ventricular septal defect, Pleural effusion, Limb unde... |
OMIM:616897 |
| Blue Cone Monochromatism |
|
Abnormality of retinal pigmentation, Corneal dystrophy |
ORPHA:16 |
| Distal Monosomy 15Q |
|
Patent ductus arteriosus, Short distal phalanx of finger, Micropenis, Genu valgum, Finger clinoda... |
ORPHA:1596 |
| Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly |
|
Polydactyly, Brachydactyly |
OMIM:617405 |
| Orofacial Cleft 10 |
|
Unilateral cleft lip, Unilateral cleft palate |
OMIM:613705 |
| Hartsfield Syndrome |
|
Split hand, Non-midline cleft lip, Aplasia/Hypoplasia of the radius, Microphthalmia, Lobar holopr... |
ORPHA:2117 |
| Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome |
|
Abnormal palate morphology, Abnormal hip bone morphology, Hypoplasia of penis, Clinodactyly of th... |
ORPHA:3068 |
| Criss-Cross Heart |
|
Ventricular septal defect, Abnormal mitral valve morphology, Pulmonic stenosis, Tricuspid stenosi... |
ORPHA:1461 |
| Orofacial Cleft 5 |
|
Cleft upper lip, Cleft palate |
OMIM:608874 |
| Orofacial Cleft 6, Susceptibility To |
|
Cleft upper lip, Cleft palate |
OMIM:608864 |
| Orofacial Cleft 1 |
|
Cleft upper lip, Cleft palate |
OMIM:119530 |
| Fanconi Anemia, Complementation Group O |
|
Hypoplasia of the radius, Abnormal heart morphology, Anal atresia, Hydronephrosis, Rectal atresia... |
OMIM:613390 |
| Juberg-Hayward Syndrome |
|
Limited elbow extension, Horseshoe kidney, Abnormality of the radial head, Aplasia/Hypoplasia of ... |
OMIM:216100 |
| Retinitis Pigmentosa 9 |
|
Macular atrophy, Bone spicule pigmentation of the retina, Cataract, Macular edema, Rod-cone dystr... |
OMIM:180104 |
| Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Carious teeth, Narrow palate, Abnormal proximal phalanx morphology of the hand, Broad thumb, Dent... |
ORPHA:353281 |
| Chromosome 1Q41-Q42 Deletion Syndrome |
|
Holoprosencephaly, Microphthalmia, Cleft upper lip, Cleft palate, Talipes equinovarus, Anteverted... |
OMIM:612530 |
| Retinitis Pigmentosa 37 |
|
Cataract, Cystoid macular degeneration, Rod-cone dystrophy, Pigmentary retinopathy |
OMIM:611131 |
| Microphthalmia, Isolated 5 |
|
Abnormality of skin pigmentation, Optic disc drusen, Rod-cone dystrophy, Retinal pigment epitheli... |
OMIM:611040 |
| Macrosomia-Microphthalmia-Cleft Palate Syndrome |
|
Median cleft palate, Recurrent respiratory infections, Microphthalmia |
ORPHA:2432 |
| 2Q24 Microdeletion Syndrome |
|
Camptodactyly of finger, Short philtrum, Toe syndactyly, Hand clenching, Microphthalmia, Bullet-s... |
ORPHA:1617 |
| Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:85275 |
| Nphp3-Related Meckel-Like Syndrome |
|
Renal dysplasia, Pulmonary hypoplasia, Intestinal malrotation, Multicystic kidney dysplasia |
ORPHA:3032 |
| Rosselli-Gulienetti Syndrome |
|
Cutaneous syndactyly of toes, Abnormality of the philtrum, Anodontia, Hypodontia, Cutaneous finge... |
OMIM:225000 |
| Distal Tetrasomy 15Q |
|
Atrial septal defect, Horseshoe kidney, Hydrocephalus, Abnormal heart morphology, Camptodactyly, ... |
ORPHA:314588 |
| Meckel Syndrome, Type 1 |
|
Hypoplasia of the bladder, Natal tooth, Intestinal malrotation, Patent ductus arteriosus, Anencep... |
OMIM:249000 |
| Acrocallosal Syndrome |
|
Thin vermilion border, Hypoplasia of teeth, Open mouth, Rectovaginal fistula, Triangular mouth, H... |
OMIM:200990 |
| Acrofacial Dysostosis 1, Nager Type |
|
Patent ductus arteriosus, Absent radius, Triphalangeal thumb, Hallux valgus, Limited elbow extens... |
OMIM:154400 |
| Congenital Heart Defects And Skeletal Malformations Syndrome |
|
Carious teeth, Atrial septal defect, Short nose, Ventricular septal defect, Finger clinodactyly, ... |
OMIM:617602 |
| Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
|
Spina bifida, Anomalous pulmonary venous return, Atrial septal defect, Preaxial hand polydactyly,... |
ORPHA:1120 |
| Craniofacioskeletal Syndrome |
|
Short philtrum, Atrial septal defect, Interrupted aortic arch, Ventricular septal defect, Hypopla... |
OMIM:300712 |
| Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome |
|
Long philtrum, Atrial septal defect, Postaxial hand polydactyly, Ventricular septal defect, Renal... |
ORPHA:75389 |
| Neuroectodermal Melanolysosomal Disease |
|
Hypopigmentation of hair, Premature graying of hair, Abnormality of the optic nerve, Generalized ... |
ORPHA:33445 |
| C Syndrome |
|
Patent ductus arteriosus, High palate, Dislocated radial head, Postaxial hand polydactyly, Limb u... |
OMIM:211750 |
| Ciliary Dyskinesia, Primary, 14 |
|
Recurrent pneumonia, Situs inversus totalis, Bronchiectasis, Absent inner dynein arms, Polyspleni... |
OMIM:613807 |
| Retinitis Pigmentosa 32 |
|
Photoreceptor layer loss on macular OCT, Pigmentary retinopathy, Attenuation of retinal blood ves... |
OMIM:609913 |
| Combined Oxidative Phosphorylation Deficiency 8 |
|
Pulmonary hypoplasia, Hypertrophic cardiomyopathy |
OMIM:614096 |
| Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Long philtrum, Hypoplasia of the radius, Ventricular septal defect, Micromelia, Hypoplastic ilia,... |
OMIM:617895 |
| Temtamy Syndrome |
|
Abnormal palate morphology, Clinodactyly of the 5th finger, Microphthalmia, Genu varum, Short toe... |
ORPHA:1777 |
| Night Blindness, Congenital Stationary, Autosomal Dominant 1 |
|
Bone spicule pigmentation of the retina, Congenital stationary night blindness |
OMIM:610445 |
| Cleft Palate-Short Stature-Vertebral Anomalies Syndrome |
|
Thin upper lip vermilion, Anteverted nares, Short nose, Cleft palate |
ORPHA:2015 |
| Solitary Median Maxillary Central Incisor |
|
Abnormal nasopharynx morphology, Holoprosencephaly, Pyriform aperture stenosis, Torus palatinus, ... |
OMIM:147250 |
| Retinitis Pigmentosa 30 |
|
Attenuation of retinal blood vessels, Chorioretinal atrophy, Optic atrophy, Bone spicule pigmenta... |
OMIM:607921 |
| Orofaciodigital Syndrome Type 6 |
|
Hand polydactyly, Renal agenesis, Central Y-shaped metacarpal, Tongue nodules, Abnormal heart mor... |
ORPHA:2754 |
| Endocrine-Cerebroosteodysplasia |
|
Depressed nasal tip, Microphallus, Hyperechogenic kidneys, Enlarged kidney, Polydactyly, Micropen... |
OMIM:612651 |
| Gillessen-Kaesbach-Nishimura Syndrome |
|
Underdeveloped nasal alae, Abnormal heart morphology, Smooth philtrum, Ulnar deviation of the han... |
OMIM:263210 |
| Triploidy |
|
Macroglossia, Narrow mouth, Finger syndactyly, Holoprosencephaly, Intestinal malrotation, Wide mo... |
ORPHA:3376 |
| Holoprosencephaly |
|
Choanal atresia, Solitary median maxillary central incisor, Aplasia/Hypoplasia of the lungs, Anop... |
ORPHA:2162 |
| Testicular Anomalies With Or Without Congenital Heart Disease |
|
Perineal hypospadias, Tetralogy of Fallot, Microphallus, Micropenis |
OMIM:615542 |
| Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Atrial septal defect, Chordee, Ventricular septal defect, Anal atresia, Microphthalmia, Overridin... |
OMIM:309801 |
| Opitz Gbbb Syndrome, Type I |
|
Abnormal nasopharynx morphology, Abnormal heart morphology, Dysphagia, Gastroesophageal reflux, P... |
OMIM:300000 |
| Chromosome 18Q Deletion Syndrome |
|
Choanal stenosis, Downturned corners of mouth, Patent ductus arteriosus, Absence of the pulmonary... |
OMIM:601808 |
| Meckel Syndrome, Type 2 |
|
Postaxial hand polydactyly, Polydactyly, Bowing of the long bones, Anencephaly, Meningocele, Rena... |
OMIM:603194 |
| Alagille Syndrome 2 |
|
Atrial septal defect, Hematuria, Renal hypoplasia, Peripheral pulmonary artery stenosis, Cholesta... |
OMIM:610205 |
| Mirage Syndrome |
|
Overlapping fingers, Radial club hand, Rocker bottom foot, Microphallus, Lymphopenia, Gastroesoph... |
OMIM:617053 |
| Humero-Radial Synostosis |
|
Chorioretinal coloboma, Tarsal synostosis, Elbow dislocation, Iris coloboma, Elbow ankylosis, Men... |
ORPHA:3265 |
| Laurin-Sandrow Syndrome |
|
Preaxial hand polydactyly, Tarsal synostosis, Absent tibia, Underdeveloped nasal alae, Limb dupli... |
ORPHA:2378 |
| Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly |
|
Short nose, Dental crowding, 2-3 toe syndactyly, Thick vermilion border, Hypodontia, Clinodactyly... |
OMIM:617061 |
| Chromosome 15Q25 Deletion Syndrome |
|
Tented upper lip vermilion, Dextrocardia, Cleft upper lip, Cleft palate, Abnormal cardiac septum ... |
OMIM:614294 |
| Homocarnosinosis |
|
Abnormality of skin pigmentation, Abnormality of retinal pigmentation |
OMIM:236130 |
| Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome |
|
Long philtrum, Thin vermilion border, Toe syndactyly, Short nose, Radioulnar synostosis, Renal ag... |
ORPHA:171839 |
| Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Carious teeth, Narrow palate, Abnormal proximal phalanx morphology of the hand, Broad thumb, Dent... |
ORPHA:353284 |
| Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Carious teeth, Narrow palate, Abnormal proximal phalanx morphology of the hand, Broad thumb, Dent... |
ORPHA:353277 |
| Keratoconus Posticus Circumscriptus |
|
Recurrent urinary tract infections, Vesicoureteral reflux, Limited elbow extension and supination... |
OMIM:244600 |
| Retinitis Pigmentosa 33 |
|
Attenuation of retinal blood vessels, Retinal pigment epithelial atrophy, Bone spicule pigmentati... |
OMIM:610359 |
| Zechi-Ceide Syndrome |
|
Oligodontia, Short metatarsal, Underdeveloped nasal alae, Wide nasal bridge, Sandal gap, Short di... |
OMIM:612916 |
| Retinitis Pigmentosa 69 |
|
Abnormality of retinal pigmentation, Rod-cone dystrophy, Pigmentary retinopathy |
OMIM:615780 |
| Kniest Dysplasia |
|
Dumbbell-shaped femur, Flexion contracture of finger, Enlarged epiphyses, Lens luxation, Enlarged... |
ORPHA:485 |
| Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence |
|
Short nose, Downturned corners of mouth, Laryngeal hypoplasia, Pierre-Robin sequence, Short palm,... |
OMIM:217980 |
| Retinitis Pigmentosa 2 |
|
Cataract, Chorioretinal degeneration, Rod-cone dystrophy, Pigmentary retinopathy |
OMIM:312600 |
| Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Postaxial polysyndactyly of foot, Atrial septal defect, Postaxial hand polydactyly, Preaxial hand... |
OMIM:263520 |
| Carpenter Syndrome 2 |
|
Narrow palate, Broad thumb, Camptodactyly, Patent ductus arteriosus, Postaxial polydactyly, Dextr... |
OMIM:614976 |
| Feingold Syndrome |
|
Toe syndactyly, Patent ductus arteriosus, Esophageal atresia, Brachydactyly, Deviation of the 2nd... |
ORPHA:1305 |
| Pericardial And Diaphragmatic Defect |
|
Meckel diverticulum, Partial diaphragmatic absence of pericardium, Pulmonary sequestration, Atria... |
ORPHA:2847 |
| Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly |
|
2-3 finger syndactyly, Postaxial hand polydactyly, Complete atrioventricular canal defect, Hamart... |
OMIM:217085 |
| Progeroid Facial Appearance With Hand Anomalies |
|
Thin vermilion border, Short philtrum, Narrow mouth, Joint contracture of the 5th finger, Cutaneo... |
OMIM:602249 |
| Microphthalmia, Syndromic 2 |
|
Oligodontia, Patent ductus arteriosus, Sandal gap, Hammertoe, Dextrocardia, Double outlet right v... |
OMIM:300166 |
| 1Q21.1 Microdeletion Syndrome |
|
Ankyloglossia, Talipes equinovarus, Long philtrum, Broad thumb, Bulbous nose, Interrupted aortic ... |
ORPHA:250989 |
| Microphthalmia, Isolated 1 |
|
Microphthalmia, Anophthalmia |
OMIM:251600 |
| Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome |
|
Broad thumb, Abnormality of the philtrum, Ventricular septal defect, Large hands, Non-midline cle... |
ORPHA:1770 |
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3 |
|
Long philtrum, Short nose, Open mouth, Downturned corners of mouth, Restrictive cardiomyopathy, D... |
OMIM:615398 |
| Bardet-Biedl Syndrome 16 |
|
Renal insufficiency, Bronchiolitis, Recurrent respiratory infections, Renal dysplasia, Renal cyst... |
OMIM:615993 |
| Tarp Syndrome |
|
Tongue nodules, Postaxial polydactyly, Alveolar ridge overgrowth, Hypoplasia of proximal radius, ... |
ORPHA:2886 |
| Oculocerebrocutaneous Syndrome |
|
Cleft palate, Congenital hip dislocation, Microphthalmia, Anophthalmia |
OMIM:164180 |
| Williams Syndrome |
|
Open bite, Carious teeth, Abnormal carotid artery morphology, Abnormal dental enamel morphology, ... |
ORPHA:904 |
| Acromicric Dysplasia |
|
Abnormality of femur morphology, Short nose, Bulbous nose, Abnormality of epiphysis morphology, F... |
ORPHA:969 |
| Pierpont Syndrome |
|
Prominent median palatal raphe, Deep palmar crease, Short toe, Thin vermilion border, Short nose,... |
OMIM:602342 |
| X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Underdeveloped nasal alae, Choanal atresia, Patent ductus arteriosus, Long toe, Toe clinodactyly,... |
ORPHA:163979 |
| Bardet-Biedl Syndrome 4 |
|
Polydactyly, Abnormality of the dentition, Syndactyly, Renal cyst, Brachydactyly, Abnormality of ... |
OMIM:615982 |
| 46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs |
|
Hypoplasia of the bladder, Ventricular septal defect, Hypospadias, Pulmonary hypoplasia, Bilatera... |
OMIM:611812 |
| Short-Rib Thoracic Dysplasia 12 |
|
Natal tooth, Intestinal malrotation, Hamartoma of tongue, Anencephaly, Patent ductus arteriosus, ... |
OMIM:269860 |
| Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly |
|
Ventricular septal defect, Preaxial polydactyly, Postaxial polydactyly, Short long bone, Pulmonar... |
OMIM:615503 |
| 3Mc Syndrome 3 |
|
Horseshoe kidney, Radioulnar synostosis, Preaxial polydactyly, Penoscrotal hypospadias, Clinodact... |
OMIM:248340 |
| Genitopatellar Syndrome |
|
Long philtrum, Delayed eruption of teeth, Atrial septal defect, Radioulnar synostosis, Hypoplasti... |
ORPHA:85201 |
| Bothnia Retinal Dystrophy |
|
Pigmentary retinopathy, Retinitis, Retinal pigment epithelial mottling, Retinal pigment epithelia... |
ORPHA:85128 |
| Atelosteogenesis Type Ii |
|
Short phalanx of finger, Elbow dislocation, Hitchhiker thumb, Camptodactyly, Sandal gap, Metatars... |
ORPHA:56304 |
| Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Short philtrum, Bulbous nose, Broad nasal tip, Everted lower lip vermilion, Thick vermilion borde... |
ORPHA:411986 |
| Genitopalatocardiac Syndrome |
|
Postaxial hand polydactyly, Downturned corners of mouth, Non-midline cleft lip, Multicystic kidne... |
ORPHA:2075 |
| Fryns Syndrome |
|
Camptodactyly, Intestinal malrotation, Short distal phalanx of finger, Short thumb, Ureteral dupl... |
OMIM:229850 |
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1 |
|
Abnormal ilium morphology, Thin vermilion border, Open mouth, Patent ductus arteriosus, Ureteral ... |
OMIM:614080 |
| Jeune Syndrome |
|
Abnormality of retinal pigmentation, Postaxial hand polydactyly, Toe syndactyly, Cone-shaped epip... |
ORPHA:474 |
| X-Linked Intellectual Disability, Nascimento Type |
|
Thin vermilion border, Underdeveloped nasal alae, Downturned corners of mouth, Peripheral pulmona... |
ORPHA:163956 |
| Ellis Van Creveld Syndrome |
|
Thin vermilion border, Hydroureter, Short distal phalanx of finger, Dextrocardia, Aplasia/Hypopla... |
ORPHA:289 |
| Kleefstra Syndrome |
|
Downturned corners of mouth, Vesicoureteral reflux, Pulmonary artery stenosis, Renal insufficienc... |
ORPHA:261494 |
| Congenital Hydrocephalus |
|
Macular hypoplasia, Optic atrophy, Iris coloboma, Hydrocephalus |
ORPHA:2185 |
| Koolen-De Vries Syndrome |
|
Pear-shaped nose, Narrow palate, Bulbous nose, Open mouth, Patent ductus arteriosus, Recurrent ur... |
OMIM:610443 |
| Timothy Syndrome |
|
Cutaneous syndactyly, Patent foramen ovale, Ventricular septal defect, Patent ductus arteriosus, ... |
OMIM:601005 |
| Nephronophthisis 2 |
|
Nephronophthisis, Situs inversus totalis, Enlarged kidney, Absence of renal corticomedullary diff... |
OMIM:602088 |
| Contractures-Developmental Delay-Pierre Robin Syndrome |
|
Abnormality of the columella, Hip dysplasia, Atrial septal defect, Abnormality of finger, Underde... |
ORPHA:436003 |
| Tricho-Retino-Dento-Digital Syndrome |
|
Abnormality of retinal pigmentation, Short 5th metacarpal, Abnormality of the hand, Brachydactyly... |
ORPHA:1264 |
| Orofaciodigital Syndrome I |
|
Enamel hypoplasia, Carious teeth, Underdeveloped nasal alae, Tongue nodules, Polydactyly, Lobulat... |
OMIM:311200 |
| Stevenson-Carey Syndrome |
|
Hip dysplasia, Atrial septal defect, Narrow mouth, Downturned corners of mouth, Underdeveloped na... |
OMIM:611961 |
| Oculocutaneous Albinism, Type Viii |
|
Hypopigmentation of hair, Chorioretinal hypopigmentation, Iris transillumination defect, Hypoplas... |
OMIM:619165 |
| Spondylo-Ocular Syndrome |
|
Iris hypopigmentation, Cataract, Microphthalmia, Retinal detachment, Aplasia/Hypoplasia of the lens |
ORPHA:85194 |
| Oligomeganephronia |
|
Branchial cyst, Decreased numbers of nephrons, Proteinuria, Secundum atrial septal defect, Unilat... |
ORPHA:2260 |
| Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion |
|
Ventricular hypertrophy, Short nose, Bulbous nose, Abnormal heart morphology, Ventricular septal ... |
ORPHA:284169 |
| Achromatopsia 7 |
|
Macular atrophy, Hypoplasia of the fovea, Absent foveal reflex |
OMIM:616517 |
| Midline Malformations, Multiple, With Limb Abnormalities And Hypopituitarism |
|
Overlapping fingers, Camptodactyly, Limb undergrowth, Cleft upper lip, Cleft palate, Joint contra... |
OMIM:601016 |
| Cortical Blindness, Retardation, And Postaxial Polydactyly |
|
Short nose |
OMIM:218010 |
| Aphalangy With Hemivertebrae |
|
Ventricular septal defect, Aphalangy of the hands, Pulmonary hypoplasia, Aplasia of the phalanges... |
OMIM:207620 |
| Platyspondylic Dysplasia, Torrance Type |
|
Hypoplastic pelvis, Hypoplastic scapulae, Micromelia, Metaphyseal cupping, Bowing of the long bon... |
ORPHA:85166 |
| Atrioventricular Septal Defect With Blepharophimosis And Anal And Radial Defects |
|
Aplasia of the 1st metacarpal, Atrial septal defect, Ventricular septal defect, Gastroesophageal ... |
OMIM:600123 |
| Meckel Syndrome |
|
Aplasia/Hypoplasia of the tongue, Pancreatic fibrosis, Anophthalmia, Ureteral duplication, Depres... |
ORPHA:564 |
| 46,Xx Disorder Of Sex Development-Anorectal Anomalies Syndrome |
|
Urogenital sinus anomaly, Hydroureter, Intestinal malrotation, Aplasia/Hypoplasia of the radius, ... |
ORPHA:2973 |
| Porencephaly, Cerebellar Hypoplasia, And Internal Malformations |
|
Tetralogy of Fallot, Atrial septal defect, Situs inversus totalis |
OMIM:601322 |
| Mesoaxial Hexadactyly And Cardiac Malformation |
|
Atrial septal defect, Hand polydactyly, Ventricular septal defect, Everted lower lip vermilion, P... |
OMIM:249670 |
| Congenital Heart Defect-Round Face-Developmental Delay Syndrome |
|
Hypospadias, Anteverted nares, Short nose, Depressed nasal ridge |
ORPHA:1355 |
| Chromosome 6Pter-P24 Deletion Syndrome |
|
Hip dysplasia, Rocker bottom foot, Atrial septal defect, Narrow mouth, Broad toe, Ventricular sep... |
OMIM:612582 |
| Chromosome 3Pter-P25 Deletion Syndrome |
|
Long philtrum, Abnormal renal morphology, Thin vermilion border, Anteverted nares, Downturned cor... |
OMIM:613792 |
| Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome |
|
Broad thumb, Abnormal aortic morphology, Patent ductus arteriosus, Intestinal malrotation, Bilate... |
ORPHA:2001 |
| Neu-Laxova Syndrome 1 |
|
Short umbilical cord, Camptodactyly, Patent ductus arteriosus, Patent foramen ovale, Rocker botto... |
OMIM:256520 |
| Achromatopsia |
|
Abnormal macular morphology, Absent foveal reflex, Attenuation of retinal blood vessels, Retinal ... |
ORPHA:49382 |
| Retinitis Pigmentosa 4 |
|
Cataract, Rod-cone dystrophy, Pigmentary retinopathy |
OMIM:613731 |
| Hypertelorism And Tetralogy Of Fallot |
|
Long philtrum, Tetralogy of Fallot with absent pulmonary valve, Patent ductus arteriosus, Hypospa... |
OMIM:239711 |
| Holoprosencephaly 13, X-Linked |
|
Ventricular septal defect, Gastroesophageal reflux, Patent ductus arteriosus, Aplasia of the nose... |
OMIM:301043 |
| Microcephaly-Micromelia Syndrome |
|
Oligodactyly, Humeroradial synostosis, Narrow mouth, Forearm undergrowth, Pulmonary hypoplasia, A... |
OMIM:251230 |
| Laterality Defects, Autosomal Dominant |
|
Asplenia, Situs inversus totalis, Heterotaxy |
OMIM:601086 |
| Igg4-Related Aortitis |
|
Abnormal aortic arch morphology, Thoracic aortic aneurysm, Hypereosinophilia, Abnormal common car... |
ORPHA:449400 |
| Sirenomelia |
|
