| Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
|
Bicuspid aortic valve, Bulbous nose, Coarctation of aorta, Broad hallux, Broad thumb, Patent duct... |
OMIM:612474 |
| 14Q24.1Q24.3 Microdeletion Syndrome |
|
Dislocated radial head, Atrial septal defect, Intestinal malrotation, Brachydactyly, Long philtru... |
ORPHA:401935 |
| Congenital Absence Of Upper Arm And Forearm With Hand Present |
|
Abnormal cardiac septum morphology, Congenital malformation of the great arteries, Cleft palate, ... |
ORPHA:294975 |
| Right Atrial Isomerism |
|
Atrial septal defect, Pulmonic stenosis, Single ventricle, Right atrial isomerism, Tetralogy of F... |
OMIM:208530 |
| Polydactyly, Preaxial Ii |
|
Preaxial foot polydactyly, Syndactyly, Duplication of thumb phalanx, Postaxial hand polydactyly, ... |
OMIM:174500 |
| Heterotaxy, Visceral, 2, Autosomal |
|
Double outlet right ventricle, Atrioventricular canal defect, Intestinal malrotation, Abdominal s... |
OMIM:605376 |
| Syndactyly Type 2 |
|
Clinodactyly of the 5th finger, 2-3 toe syndactyly, Camptodactyly of finger, Symphalangism affect... |
ORPHA:93403 |
| Heterotaxy, Visceral, 7, Autosomal |
|
Abnormal cardiac septum morphology, Atrial septal defect, Heterotaxy, Atrioventricular canal defe... |
OMIM:616749 |
| Genitopalatocardiac Syndrome |
|
Double outlet right ventricle, Cleft upper lip, Cleft palate, Hypospadias, Ventricular septal def... |
OMIM:231060 |
| Synpolydactyly 1 |
|
Clinodactyly of the 5th finger, Mesoaxial hand polydactyly, 6 metacarpals, 2nd-5th toe middle pha... |
OMIM:186000 |
| Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs |
|
Short distal phalanx of finger, Unilateral renal agenesis, Ventricular septal defect, Hydranencep... |
OMIM:601355 |
| Conotruncal Heart Malformations |
|
Double outlet right ventricle, Postaxial polydactyly, Coarctation of aorta, Broad hallux, Complet... |
OMIM:217095 |
| Cleft-Limb-Heart Malformation Syndrome |
|
Syndactyly, Truncus arteriosus |
OMIM:215850 |
| Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Anal atresia, Urethral atresia, Atrioventricular canal defect, Tracheoesophageal fistula, Short h... |
OMIM:314390 |
| Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome |
|
Short distal phalanx of finger, Renal hypoplasia/aplasia, High, narrow palate, Cleft palate, Rena... |
ORPHA:2516 |
| Heterotaxy, Visceral, 1, X-Linked |
|
Posteriorly placed anus, Hepatomegaly, Atrioventricular canal defect, Biliary atresia, Congenital... |
OMIM:306955 |
| Fryns Microphthalmia Syndrome |
|
Anophthalmia, Neural tube defect, Bilateral cleft lip and palate, Facial cleft, Microphthalmia |
OMIM:600776 |
| Biemond Syndrome Type 2 |
|
Preaxial polydactyly, Hydrocephalus, Microphthalmia, Coloboma |
ORPHA:141333 |
| Microgastria-Limb Reduction Defect Syndrome |
|
Hiatus hernia, Tracheoesophageal fistula, Abnormality of the humerus, Horseshoe kidney, Microphth... |
ORPHA:2538 |
| Polydactyly, Postaxial, Type A1 |
|
Preaxial polydactyly, Syndactyly, Postaxial hand polydactyly, Triphalangeal thumb, Broad thumb |
OMIM:174200 |
| Tricuspid Atresia |
|
Tricuspid atresia, Atrial septal defect, Coarctation of aorta, Pulmonary artery atresia, Ventricu... |
ORPHA:1209 |
| Heterotaxy, Visceral, 5, Autosomal |
|
Atrioventricular canal defect, Ventricular septal defect, Double outlet right ventricle, Dextrotr... |
OMIM:270100 |
| Holzgreve Syndrome |
|
Cleft upper lip, Hypoplastic left heart, Cleft palate, Renal agenesis, Renal hypoplasia, Hand pol... |
OMIM:236110 |
| Thymic Aplasia With Fetal Death |
|
Renal agenesis, Pulmonary hypoplasia, Truncus arteriosus, Ureteral agenesis |
OMIM:274210 |
| Short Rib-Polydactyly Syndrome |
|
Cleft palate, Nephronophthisis, Depressed nasal bridge, Cone-shaped epiphysis, Micromelia, Hepati... |
ORPHA:1505 |
| 17Q12 Microduplication Syndrome |
|
Atrial septal defect, Cleft palate, Tracheoesophageal fistula, Microphthalmia, Finger syndactyly,... |
ORPHA:261272 |
| Blindness-Scoliosis-Arachnodactyly Syndrome |
|
Microphakia, Abnormality of retinal pigmentation, Lens subluxation, Arachnodactyly, Retinal detac... |
ORPHA:171844 |
| Microspherophakia-Metaphyseal Dysplasia |
|
Microspherophakia, Metaphyseal dysplasia, Lens subluxation, Retinal detachment, Irregular epiphys... |
OMIM:157151 |
| Czeizel-Losonci Syndrome |
|
High palate, Myelomeningocele, Hydrocephalus, Ectrodactyly, Congenital megaureter, Split foot, Tr... |
ORPHA:2437 |
| Double Outlet Right Ventricle |
|
Double outlet right ventricle, Narrow mouth, Hypoplastic left heart, Cleft palate, Heterotaxy, Pu... |
ORPHA:3426 |
| Ciliary Dyskinesia, Primary, 40 |
|
Left Isomerism, Atrioventricular canal defect, Unbalanced atrioventricular canal defect, Situs in... |
OMIM:618300 |
| Meckel Syndrome, Type 8 |
|
Cleft upper lip, Talipes equinovarus, Cleft palate, Hyperechogenic kidneys, Anophthalmia, Polydac... |
OMIM:613885 |
| Gombo Syndrome |
|
Brachydactyly, Clinodactyly, Microphthalmia, Radial deviation of finger, Abnormal heart morphology |
OMIM:233270 |
| 16P13.11 Microduplication Syndrome |
|
Atrial septal defect, Arachnodactyly, Coarctation of aorta, Tetralogy of Fallot, Ventricular sept... |
ORPHA:261243 |
| Chromosome 22Q11.2 Deletion Syndrome, Distal |
|
Cleft palate, Truncus arteriosus, Thin upper lip vermilion, Underdeveloped nasal alae, Smooth phi... |
OMIM:611867 |
| Catel-Manzke Syndrome |
|
High palate, Cleft upper lip, Clinodactyly of the 5th finger, Talipes equinovarus, Hyperphalangy ... |
OMIM:616145 |
| Adams-Oliver Syndrome 6 |
|
Splenomegaly, Brachydactyly, Syndactyly, Ventricular septal defect, Renal hypoplasia, Hepatic fib... |
OMIM:616589 |
| Bardet-Biedl Syndrome 13 |
|
Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, Polydactyly, Rod-c... |
OMIM:615990 |
| Mmep Syndrome |
|
Split foot, Oral cleft, Ventricular septal defect, Triphalangeal thumb, Median cleft lip, Microph... |
ORPHA:3434 |
| Polycystic Kidney, Cataract, And Congenital Blindness |
|
Hypoplasia of the retina, Microcoria, Cataract, Retinal dystrophy |
OMIM:263100 |
| Scimitar Syndrome |
|
Tricuspid atresia, Pulmonary sequestration, Anomalous pulmonary venous return, Ventricular septal... |
ORPHA:185 |
| Kallmann Syndrome-Heart Disease Syndrome |
|
Double outlet right ventricle, Cleft palate, Micropenis, Renal agenesis, Pulmonary artery hypopla... |
ORPHA:2326 |
| Mosaic Trisomy 9 |
|
High palate, Bulbous nose, Cleft palate, Abnormal liver lobulation, Finger clinodactyly, Micromel... |
ORPHA:99776 |
| Anterior Segment Dysgenesis 8 |
|
Microphakia, Ectopia pupillae, Uveal ectropion, Optic nerve dysplasia, Hypoplasia of the iris, Ca... |
OMIM:617319 |
| Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies |
|
Double outlet right ventricle, Overlapping toe, Atrial septal defect, Depressed nasal bridge, Cut... |
OMIM:618316 |
| Microphthalmia, Isolated, With Coloboma 6 |
|
Bilateral microphthalmos, Optic disc hypoplasia, Hypoplasia of the fovea, Coloboma |
OMIM:613703 |
| Hypertelorism, Microtia, Facial Clefting Syndrome |
|
Cleft upper lip, Narrow mouth, 2-3 toe syndactyly, Cleft palate, Small thenar eminence, Broad nas... |
OMIM:239800 |
| Acrocardiofacial Syndrome |
|
Mitral stenosis, Anal atresia, Cleft upper lip, Atrial septal defect, Finger syndactyly, Cleft pa... |
ORPHA:2008 |
| Heterotaxy, Visceral, 4, Autosomal |
|
Atrioventricular canal defect, Dextrotransposition of the great arteries, Pulmonary artery atresi... |
OMIM:613751 |
| Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Talipes equinovarus, Hepatomegaly, Aortic valve stenosis, Pulmonic stenosis, Femoral bowing, Cyst... |
OMIM:615415 |
| Microphthalmia, Syndromic 9 |
|
Multilobulated spleen, Hypoplastic left atrium, Ventricular septal defect, Pulmonary hypoplasia, ... |
OMIM:601186 |
| Facial Clefting, Oblique, 1 |
|
Cleft upper lip, Deep palmar crease, Facial cleft, Cleft palate |
OMIM:600251 |
| Pallister-Hall-Like Syndrome |
|
Hydrocephalus, Cleft palate, Micropenis, Micromelia, Renal dysplasia, Postaxial hand polydactyly,... |
OMIM:241800 |
| Truncus Arteriosus |
|
Single coronary artery origin, Abnormal coronary artery morphology, Ventricular septal defect, Pu... |
ORPHA:3384 |
| Hadziselimovic Syndrome |
|
High palate, Anal atresia, U-Shaped upper lip vermilion, Atrial septal defect, Tetralogy of Fallo... |
OMIM:612946 |
| Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities |
|
Syndactyly, Ventricular septal defect, Hypoplasia of the ulna, Renal cyst, Renal hypoplasia, Meso... |
OMIM:228940 |
| Polydactyly, Preaxial Iv |
|
1-5 toe syndactyly, Preaxial polydactyly, Duplication of thumb phalanx, 3-4 finger syndactyly, Dy... |
OMIM:174700 |
| Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome |
|
High palate, Overlapping toe, Atrial septal defect, Postaxial polydactyly, Bilateral talipes equi... |
OMIM:618142 |
| Santos Syndrome |
|
Talipes equinovarus, Postaxial polydactyly, Preaxial polydactyly, Syndactyly, Brachydactyly, Poly... |
OMIM:613005 |
| Atrioventricular Septal Defect, Susceptibility To, 2 |
|
Dextrocardia, Atrioventricular canal defect, Right aortic arch with mirror image branching, Pulmo... |
OMIM:606217 |
| Polydactyly, Preaxial I |
|
Partial duplication of thumb phalanx, Preaxial hand polydactyly, Radial deviation of thumb termin... |
OMIM:174400 |
| Orofaciodigital Syndrome Xviii |
|
Short distal phalanx of finger, Postaxial polydactyly, Preaxial polydactyly, Brachydactyly, Singl... |
OMIM:617927 |
| Biemond Syndrome Ii |
|
Preaxial hand polydactyly, Hydrocephalus, Iris coloboma |
OMIM:210350 |
| Vacterl/Vater Association |
|
Anal atresia, Abnormal cardiac septum morphology, Hypoplasia of penis, Cleft palate, Finger synda... |
ORPHA:887 |
| Anophthalmia Plus Syndrome |
|
Cleft palate, Anophthalmia, Deviation of finger, Bilateral cleft lip and palate, Facial cleft, No... |
ORPHA:1104 |
| Heterotaxy, Visceral, 6, Autosomal |
|
Double outlet right ventricle, Hypoplastic left heart, Unbalanced atrioventricular canal defect, ... |
OMIM:614779 |
| Methimazole Embryofetopathy |
|
Tracheoesophageal fistula, Hypospadias, Coarctation of aorta, Ventricular septal defect, Choanal ... |
ORPHA:1923 |
| Cardiac-Urogenital Syndrome |
|
Enlarged kidney, Ventricular septal defect, Pulmonary hypoplasia, Patent urachus, Tracheomalacia,... |
OMIM:618280 |
| Acrofacial Dysostosis, Weyers Type |
|
Clinodactyly of the 5th finger, Hypodontia, Small hand, Abnormality of the dentition, Overlapping... |
ORPHA:952 |
| Short Stature-Wormian Bones-Dextrocardia Syndrome |
|
High palate, Anal atresia, Tooth agenesis, Renal hypoplasia/aplasia, Midshaft hypospadias, Campto... |
ORPHA:2863 |
| Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy |
|
Double outlet right ventricle, High palate, Anomalous pulmonary venous return, Atrial septal defe... |
OMIM:619657 |
| Heterotaxy, Visceral, 12, Autosomal |
|
Left Isomerism, Single coronary artery origin, Ventricular septal defect, Double outlet right ven... |
OMIM:619702 |
| Schisis Association |
|
Anal atresia, Cleft palate, Renal agenesis, Tracheoesophageal fistula, Anencephaly, Micromelia, U... |
ORPHA:63862 |
| Oculomaxillofacial Dysostosis |
|
Aplasia/Hypoplasia affecting the eye, Cleft palate, Adducted thumb, Abnormality of the dentition,... |
ORPHA:1794 |
| Hallux Varus And Preaxial Polysyndactyly |
|
Broad hallux, Syndactyly, Hallux varus, Preaxial hand polydactyly |
OMIM:234280 |
| 14Q11.2 Microdeletion Syndrome |
|
High palate, Narrow mouth, Toe clinodactyly, Everted lower lip vermilion, Depressed nasal bridge,... |
ORPHA:261120 |
| Heterotaxy, Visceral, 8, Autosomal |
|
Double outlet right ventricle, Hypoplastic left heart, Atrial situs inversus, Unbalanced atrioven... |
OMIM:617205 |
| Transposition Of The Great Arteries, Dextro-Looped |
|
Transposition of the great arteries |
OMIM:608808 |
| Fanconi Anemia, Complementation Group B |
|
Duodenal atresia, Absent thumb, Micropenis, Renal agenesis, Tracheoesophageal fistula, Aplastic a... |
OMIM:300514 |
| Foveal Hypoplasia 1 |
|
Presenile cataracts, Hypoplasia of the fovea |
OMIM:136520 |
| Phenobarbital Embryopathy |
|
Abnormal mitral valve morphology, Hypospadias, Brachydactyly, Tetralogy of Fallot, Abnormal nasal... |
ORPHA:1919 |
| Ciliary Dyskinesia, Primary, 37 |
|
Situs inversus totalis, Dextrocardia, Chronic rhinitis, Bronchiectasis, Right aortic arch |
OMIM:617577 |
| Renal Tubular Dysgenesis |
|
Nephropathy, Renotubular dysgenesis, Multiple renal cysts, Tetralogy of Fallot, Bilateral single ... |
ORPHA:3033 |
| Choroidal Dystrophy, Central Areolar, 1 |
|
Chorioretinal atrophy, Choriocapillaris atrophy, Pigmentary retinopathy |
OMIM:215500 |
| Cataract 21, Multiple Types |
|
Cerulean cataract, Retinal detachment, Microcornea, Cortical pulverulent cataract, Iris coloboma,... |
OMIM:610202 |
| Syndactyly, Type Iv |
|
2-3 toe syndactyly, 1-5 finger complete cutaneous syndactyly, Postaxial polydactyly, Polydactyly,... |
OMIM:186200 |
| Thomas Syndrome |
|
Cleft upper lip, Renal hypoplasia/aplasia, Hypoplastic left heart, Cleft palate, Multicystic kidn... |
ORPHA:3316 |
| Oculoauricular Syndrome |
|
Microphakia, Rod-cone dystrophy, Retinal coloboma, Morning glory anomaly, Macular hypoplasia, Ret... |
OMIM:612109 |
| Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome |
|
Cleft palate, Abnormal hip bone morphology, Thin vermilion border, Camptodactyly of finger, Abnor... |
ORPHA:2631 |
| Nevus Comedonicus Syndrome |
|
Preaxial polydactyly, Spina bifida occulta, Cataract, Spina bifida, Finger syndactyly, Toe syndac... |
ORPHA:64754 |
| Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies |
|
Cleft upper lip, High, narrow palate, Cleft palate, Broad proximal phalanges of the hand, Optic n... |
OMIM:607597 |
| Emanuel Syndrome |
|
High palate, Anal atresia, Atrial septal defect, Aortic valve stenosis, Cleft palate, Gastroesoph... |
OMIM:609029 |
| Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Hydrocephalus, Hypoplasia of penis, Holoprosencephaly, Hypospadias, Tracheoesophageal fistula, An... |
ORPHA:77298 |
| Mycophenolate Mofetil Embryopathy |
|
Tracheomalacia, Tracheoesophageal fistula, Coarctation of aorta, Bifid nose, Oral cleft, Ventricu... |
ORPHA:268249 |
| Frontonasal Dysplasia 1 |
|
Median cleft palate, Joint contracture of the hand, Broad nasal tip, Brachydactyly, Bifid nose, T... |
OMIM:136760 |
| Fallot Complex-Intellectual Disability-Growth Delay Syndrome |
|
High palate, Double outlet right ventricle, 2-3 toe syndactyly, Atrial septal defect, Overriding ... |
ORPHA:3304 |
| Congenital Alveolar Capillary Dysplasia |
|
Annular pancreas, Pulmonary valve atresia, Bicuspid aortic valve, Anal atresia, Atrial septal def... |
ORPHA:210122 |
| Cerebrooculonasal Syndrome |
|
High palate, U-Shaped upper lip vermilion, Long philtrum, Microdontia, Anophthalmia, Postaxial ha... |
ORPHA:66625 |
| Congenital Heart Defects, Multiple Types, 6 |
|
Double outlet right ventricle, Secundum atrial septal defect, Pulmonic stenosis, Single ventricle... |
OMIM:613854 |
| Trisomy 13 |
|
Ectrodactyly, Atrial septal defect, High, narrow palate, Cleft palate, Microphthalmia, Abnormalit... |
ORPHA:3378 |
| Dextrocardia With Unusual Facies And Microphthalmia |
|
Dextrocardia, Anophthalmia, Cleft palate, Microphthalmia |
OMIM:221950 |
| Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Cleft palate, Atrioventricular canal defect, Tracheoesophageal fistula, Ventricular septal defect... |
OMIM:265380 |
| Orofaciodigital Syndrome Xvii |
|
High, narrow palate, Micropenis, Partial duplication of thumb phalanx, Short middle phalanx of th... |
OMIM:617926 |
| Congenital Primary Aphakia |
|
Congenital aphakia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Microphthalmia,... |
ORPHA:83461 |
| Pulmonary Atresia-Intact Ventricular Septum Syndrome |
|
Abnormal tricuspid valve morphology, Patent ductus arteriosus, Pulmonary artery atresia |
ORPHA:1208 |
| Congenital Contractural Arachnodactyly |
|
High palate, Duodenal atresia, Arachnodactyly, Tracheoesophageal fistula, Camptodactyly of finger... |
ORPHA:115 |
| Primary Ciliary Dyskinesia |
|
Anomalous pulmonary venous return, Polysplenia, Peribronchovascular interstitial thickening, Abno... |
ORPHA:244 |
| Microphthalmia, Syndromic 12 |
|
Anophthalmia, Hypoplastic left atrium, Ventricular septal defect, Pulmonary hypoplasia, Microphth... |
OMIM:615524 |
| Pulmonary Atresia With Intact Ventricular Septum |
|
Hypoplastic right heart, Pulmonary artery atresia |
OMIM:265150 |
| Macrosomia With Microphthalmia, Lethal |
|
Microphthalmia, Median cleft palate, Respiratory infections in early life |
OMIM:248110 |
| Fryns Syndrome |
|
High palate, Abnormal cardiac septum morphology, Wide mouth, Cleft palate, Pulmonary hypoplasia, ... |
ORPHA:2059 |
| Polydactyly, Preaxial Iii |
|
Preaxial polydactyly, Triphalangeal thumb |
OMIM:174600 |
| Fetal Trimethadione Syndrome |
|
Atrial septal defect, Hypospadias, Depressed nasal bridge, Bilateral single transverse palmar cre... |
ORPHA:1913 |
| Lymphedema, Cardiac Septal Defects, And Characteristic Facies |
|
Atrial septal defect, Broad nasal tip, Depressed nasal bridge, Ventricular septal defect, Thin up... |
OMIM:601927 |
| Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome |
|
Hydrocephalus, Coloboma, Developmental cataract, Ocular anterior segment dysgenesis, Microphthalm... |
ORPHA:324416 |
| Preaxial Polydactyly-Colobomata-Intellectual Disability Syndrome |
|
Retinal coloboma, Iris coloboma, Preaxial polydactyly, Chorioretinal coloboma |
ORPHA:2921 |
| Anencephaly 2 |
|
Median cleft palate, Anophthalmia, Anencephaly, Median cleft lip, Cleft of alveolar ridge of maxilla |
OMIM:619452 |
| Floating-Harbor Syndrome |
|
Wide mouth, Short metacarpal, Broad nasal tip, Short philtrum, Long nose, Microdontia, Broad fing... |
ORPHA:2044 |
| Congenital Tracheomalacia |
|
Tracheoesophageal fistula, Ventricular septal defect, Pulmonary hypoplasia, Pneumonia, Cardiomega... |
ORPHA:95430 |
| Floating-Harbor Syndrome |
|
Wide mouth, Cone-shaped epiphyses of the phalanges of the hand, Bulbous nose, Short 1st metacarpa... |
OMIM:136140 |
| Persistent Placoid Maculopathy |
|
Abnormal macular morphology, Choroidal neovascularization, Retinal pigment epithelial mottling, H... |
ORPHA:97341 |
| Microgastria-Limb Reduction Defects Association |
|
Type I truncus arteriosus, Absent thumb, Hypoplasia of the radius, Biliary tract abnormality, Hyp... |
OMIM:156810 |
| Recombinant Chromosome 8 Syndrome |
|
Double outlet right ventricle, Gingival overgrowth, Clinodactyly of the 5th finger, Atrial septal... |
OMIM:179613 |
| Liberfarb Syndrome |
|
Delayed epiphyseal ossification, Retinal degeneration, Retinal pigment epithelial mottling, Metap... |
OMIM:618889 |
| Brachial Amelia, Cleft Lip, And Holoprosencephaly |
|
Cleft upper lip, Short femur, Anterior encephalocele, Bilateral cleft lip and palate, Facial clef... |
OMIM:601357 |
| Mosaic Trisomy 1 |
|
Wide mouth, Cleft palate, Depressed nasal bridge, 2-3 finger syndactyly, Finger clinodactyly, Sin... |
ORPHA:1692 |
| Diamond-Blackfan Anemia 6 |
|
Increased mean corpuscular volume, Cleft upper lip, Atrial septal defect, Cleft palate, Tracheoma... |
OMIM:612561 |
| Lethal Congenital Contracture Syndrome 10 |
|
High palate, Narrow palate, Talipes equinovarus, Adducted thumb, Overlapping fingers, Long philtr... |
OMIM:617022 |
| Retinitis Pigmentosa 36 |
|
Macular degeneration, Rod-cone dystrophy, Attenuation of retinal blood vessels, Optic disc pallor... |
OMIM:610599 |
| Congenital Tracheal Stenosis |
|
Abnormal tracheobronchial morphology, Anomalous origin of left pulmonary artery from ascending ao... |
ORPHA:141127 |
| Cone-Rod Dystrophy 16 |
|
Rod-cone dystrophy, Postaxial polydactyly, Attenuation of retinal blood vessels, Cone/cone-rod dy... |
OMIM:614500 |
| Oculofaciocardiodental Syndrome |
|
Abnormal cardiac septum morphology, Cleft palate, Abnormality of the dentition, Delayed eruption ... |
ORPHA:2712 |
| Meckel Syndrome, Type 5 |
|
Cleft upper lip, Cleft palate, Anencephaly, Postaxial hand polydactyly, Renal cyst, Postaxial foo... |
OMIM:611561 |
| Feingold Syndrome 1 |
|
Annular pancreas, High palate, Short toe, 2-3 toe syndactyly, Duodenal atresia, Everted lower lip... |
OMIM:164280 |
| Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3 |
|
Double outlet right ventricle, Bicuspid aortic valve, Talipes equinovarus, Hypoplastic left heart... |
OMIM:618845 |
| Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome |
|
Ectopic anus, Hypoplastic left heart, Cleft palate, Anencephaly, Ventricular septal defect, Aplas... |
ORPHA:2476 |
| Cleft Palate, Cardiac Defects, And Mental Retardation |
|
Cleft upper lip, 2-3 toe syndactyly, Short 2nd finger, Atrial septal defect, Secundum atrial sept... |
OMIM:600987 |
| Ritscher-Schinzel Syndrome 1 |
|
Double outlet right ventricle, Anal atresia, Atrial septal defect, Aortic valve stenosis, Hypopla... |
OMIM:220210 |
| Microphthalmia, Isolated, With Coloboma 7 |
|
Coloboma |
OMIM:614497 |
| Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome |
|
Bicuspid aortic valve, Clinodactyly of the 5th finger, Pseudocoarctation of the aorta, Abnormal h... |
ORPHA:228190 |
| Pentalogy Of Cantrell |
|
Hydrocephalus, Atrial septal defect, Cleft palate, Abnormal pericardium morphology, Renal agenesi... |
ORPHA:1335 |
| Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies |
|
Broad nasal tip, Long nose, Depressed nasal bridge, Dextrotransposition of the great arteries, Br... |
OMIM:619995 |
| Microphthalmia, Isolated, With Coloboma 5 |
|
Holoprosencephaly, Anophthalmia, Oral cleft, Bilateral microphthalmos, Microphthalmia |
OMIM:611638 |
| Distal 22Q11.2 Microdeletion Syndrome |
|
Cleft palate, Ulnar deviation of finger, Ventricular septal defect, Pyloric stenosis, Sandal gap,... |
ORPHA:261330 |
| Esophageal Atresia |
|
Cleft palate, Tracheoesophageal fistula, Ventricular septal defect, Pyloric stenosis, Pulmonary h... |
ORPHA:1199 |
| Disorganization, Mouse, Homolog Of |
|
Cleft upper lip, Cleft palate, Limb duplication, Hand polydactyly, Hip dislocation |
OMIM:223200 |
| Pmp22-Rai1 Contiguous Gene Duplication Syndrome |
|
Double outlet right ventricle, Bicuspid aortic valve, 2-3 toe syndactyly, Atrial septal defect, T... |
ORPHA:477817 |
| Congenital Unilateral Hypoplasia Of Depressor Anguli Oris |
|
Tooth agenesis, Renal hypoplasia/aplasia, Cleft palate, Abnormal hip bone morphology, Abnormality... |
ORPHA:1166 |
| Syndactyly-Polydactyly-Earlobe Syndrome |
|
Bifid distal phalanx of toe, 1-2 toe complete cutaneous syndactyly, Preaxial foot polydactyly, Br... |
OMIM:186350 |
| Microspherophakia With Hernia |
|
Microspherophakia, Superior lens subluxation, Retinal detachment |
OMIM:157150 |
| Microphthalmia With Limb Anomalies |
|
High palate, Cleft palate, Depressed nasal bridge, Single transverse palmar crease, Short nose, S... |
OMIM:206920 |
| Acropectoral Syndrome |
|
Preaxial polydactyly, Partial duplication of thumb phalanx, Triphalangeal thumb |
OMIM:605967 |
| Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction |
|
Pulmonary artery atresia, Ventricular septal defect, Left superior vena cava draining directly to... |
OMIM:613759 |
| Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 |
|
Atrial septal defect, Postaxial polydactyly, Abnormally large globe, Ventricular septal defect, V... |
OMIM:603387 |
| Gonadal dysgenesis, xy type, with associated anomalies |
|
Cleft upper lip, Abnormal heart morphology, Broad palm, Oral cleft |
OMIM:233430 |
| Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies |
|
Short toe, Clinodactyly of the 5th finger, Bicuspid aortic valve, Pseudocoarctation of the aorta,... |
OMIM:604381 |
| Structural Heart Defects And Renal Anomalies Syndrome |
|
Tricuspid atresia, Overlapping toe, Atrial septal defect, Tetralogy of Fallot, Ventricular septal... |
OMIM:617478 |
| Carpenter Syndrome 1 |
|
Aplasia/Hypoplasia of the middle phalanges of the toes, Depressed nasal bridge, Ventricular septa... |
OMIM:201000 |
| Maternal Phenylketonuria |
|
Double outlet right ventricle, High palate, Hypoplastic left heart, Brachydactyly, Coarctation of... |
ORPHA:2209 |
| Trisomy 1Q |
|
Anal atresia, Narrow mouth, Cleft palate, Congenital megaureter, Arachnodactyly, Depressed nasal ... |
ORPHA:261344 |
| Congenital Radioulnar Synostosis |
|
Dislocated radial head, Abnormality of the musculature of the upper arm, Talipes equinovarus, Abn... |
ORPHA:3269 |
| Choroideremia |
|
Granular macular appearance, Choroideremia, Retinal pigment epithelial mottling, Chorioretinal at... |
OMIM:303100 |
| Velocardiofacial Syndrome |
|
Unilateral primary pulmonary dysgenesis, Underdeveloped nasal alae, Bulbous nose, Velopharyngeal ... |
OMIM:192430 |
| Adams-Oliver Syndrome 4 |
|
Short toe, Absent middle phalanx of the 3rd toe, Atrial septal defect, Aplasia of the middle phal... |
OMIM:615297 |
| Ciliary Dyskinesia, Primary, 39 |
|
Recurrent lower respiratory tract infections, Dextrocardia, Double outlet right ventricle, Bronch... |
OMIM:618254 |
| Ivic Syndrome |
|
Absent thumb, Limited interphalangeal movement, Hypoplasia of the radius, Short 1st metacarpal, U... |
OMIM:147750 |
| Duane-Radial Ray Syndrome |
|
Absent thumb, Hypoplasia of the radius, Hypoplasia of the ulna, Ventricular septal defect, Sandal... |
OMIM:607323 |
| Preaxial Hallucal Polydactyly |
|
Preaxial foot polydactyly, Preaxial hand polydactyly |
OMIM:601759 |
| Microphthalmia, Isolated 4 |
|
Microphthalmia, Postaxial polydactyly, Coloboma |
OMIM:613094 |
| Leber Congenital Amaurosis 13 |
|
Bone spicule pigmentation of the retina, Optic disc pallor, Attenuation of retinal blood vessels,... |
OMIM:612712 |
| Fanconi Anemia |
|
High palate, Abnormality of femur morphology, Arteriovenous malformation, Abnormal cardiac septum... |
ORPHA:84 |
| Triphalangeal Thumb, Nonopposable |
|
Triphalangeal thumb, Polydactyly |
OMIM:190600 |
| Aminopterin/Methotrexate Embryofetopathy |
|
Cleft palate, Micromelia, Wide nasal bridge, Tetralogy of Fallot, Pulmonary artery atresia, Situs... |
ORPHA:1908 |
| Emanuel Syndrome |
|
High palate, Cleft palate, Congenital hip dislocation, Delayed eruption of teeth, Ventricular sep... |
ORPHA:96170 |
| Cerebrooculofacioskeletal Syndrome 3 |
|
Talipes equinovarus, Microphthalmia, Cleft palate, Edema, Rocker bottom foot, Intrauterine growth... |
OMIM:616570 |
| Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1 |
|
Short toe, Clinodactyly of the 5th finger, Pulmonic stenosis, Spina bifida occulta, Short nose, S... |
OMIM:617877 |
| Rhombencephalosynapsis |
|
Anal atresia, Narrow mouth, Tracheoesophageal fistula, Polydactyly, Short phalanx of finger, Abno... |
ORPHA:59315 |
| Opitz Gbbb Syndrome |
|
High palate, Cleft palate, Tracheoesophageal fistula, Ventricular septal defect, Aortic root aneu... |
ORPHA:2745 |
| Axial Mesodermal Dysplasia Spectrum |
|
Anal atresia, Gingival overgrowth, Renal hypoplasia/aplasia, Hydrocephalus, Gastroesophageal refl... |
ORPHA:1834 |
| Nail-Patella Syndrome |
|
Microphakia, Clinodactyly of the 5th finger, Talipes equinovarus, Disproportionate prominence of ... |
OMIM:161200 |
| Fanconi Anemia, Complementation Group D2 |
|
Absent thumb, Tracheoesophageal fistula, Horseshoe kidney, Complete duplication of thumb phalanx,... |
OMIM:227646 |
| Thakker-Donnai Syndrome |
|
Anal atresia, Narrow mouth, Bulbous nose, Tracheoesophageal fistula, Tetralogy of Fallot, Ventric... |
ORPHA:1780 |
| Chromosome 16P13.3 Duplication Syndrome |
|
Bulbous nose, Short toe, Atrial septal defect, Short phalanx of finger, Tapered finger, Long fing... |
OMIM:613458 |
| Pulmonary Atresia With Ventricular Septal Defect |
|
Ventricular septal defect, Pulmonary artery atresia |
OMIM:178370 |
| Meckel Syndrome, Type 4 |
|
Hydrocephalus, Atrial septal defect, Microphthalmia, Cleft palate, Anencephaly, Ventricular septa... |
OMIM:611134 |
| Cardiac Diverticulum |
|
Tricuspid atresia, Tricuspid stenosis, Ventricular septal defect, Abnormal heart morphology, Tetr... |
ORPHA:1686 |
| Orofaciodigital Syndrome Type 5 |
|
High, narrow palate, Tetralogy of Fallot, Postaxial hand polydactyly, Non-midline cleft lip, Agen... |
ORPHA:2919 |
| Brachydactyly, Coloboma, And Anterior Segment Dysgenesis |
|
Syndactyly, Brachydactyly, Coloboma, Peters anomaly, Iris coloboma, Clinodactyly, Ocular anterior... |
OMIM:610023 |
| Sorsby Pseudoinflammatory Fundus Dystrophy |
|
Abnormal fundus autofluorescence imaging, Subretinal deposits, Yellow/white lesions of the macula... |
ORPHA:59181 |
| Kapur-Toriello Syndrome |
|
Cleft upper lip, Bulbous nose, Atrial septal defect, Joint contracture of the hand, Cleft palate,... |
OMIM:244300 |
| Oculoauriculovertebral Spectrum With Radial Defects |
|
Ectopic anus, Wide mouth, Aplasia/Hypoplasia affecting the eye, Distal urethral duplication, Rena... |
ORPHA:2549 |
| Chromosome 13Q33-Q34 Deletion Syndrome |
|
High palate, Distally placed thumb, Short philtrum, Cutaneous syndactyly, Anencephaly, Delayed er... |
OMIM:619148 |
| Johnson Neuroectodermal Syndrome |
|
Cleft palate, Micropenis, Carious teeth, Ventricular septal defect, Patent ductus arteriosus, Cho... |
OMIM:147770 |
| Intellectual Disability, Wolff Type |
|
Short distal phalanx of finger, Bulbous nose, Clinodactyly of the 5th finger, Hypospadias, Campto... |
ORPHA:3080 |
| Neural Tube Defects, Folate-Sensitive |
|
Spinal dysraphism |
OMIM:601634 |
| Bardet-Biedl Syndrome 11 |
|
Retinopathy, Polydactyly |
OMIM:615988 |
| Frontonasal Dysplasia 3 |
|
Facial cleft, Cleft palate, Microphthalmia |
OMIM:613456 |
| Meacham Syndrome |
|
Cardiac total anomalous pulmonary venous connection, Bicuspid aortic valve, Atrial septal defect,... |
OMIM:608978 |
| Hydrolethalus |
|
Hydrocephalus, Cleft palate, Tracheal atresia, Gingival cleft, Anencephaly, Bifid uvula, Arrhinen... |
ORPHA:2189 |
| Congenital Heart Defects, Multiple Types, 7 |
|
Absence of the pulmonary valve, Pulmonic stenosis, Double aortic arch, Tetralogy of Fallot, Pulmo... |
OMIM:618780 |
| Mullegama-Klein-Martinez Syndrome |
|
Abnormal cardiac septum morphology, Bulbous nose, Clinodactyly of the 5th finger, Hypoplastic lef... |
OMIM:301022 |
| Acropectoral Syndrome |
|
Preaxial hand polydactyly, Finger syndactyly |
ORPHA:85203 |
| Fallot Complex With Severe Mental And Growth Retardation |
|
Double outlet right ventricle, Ventricular septal defect, Pulmonic stenosis, Tetralogy of Fallot |
OMIM:601127 |
| Nanophthalmos |
|
Abnormality of retinal pigmentation, Abnormal choroid morphology, Microphthalmia |
ORPHA:35612 |
| Acrofacial Dysostosis, Catania Type |
|
Tooth agenesis, Clinodactyly of the 5th finger, Finger syndactyly, Inguinal hernia, Small hand, A... |
ORPHA:1786 |
| Orofaciodigital Syndrome Vi |
|
High palate, Cleft upper lip, Accessory oral frenulum, Mesoaxial hand polydactyly, Cleft palate, ... |
OMIM:277170 |
| Stankiewicz-Isidor Syndrome |
|
2-3 toe syndactyly, Absent thumb, Micropenis, Hypospadias, Ureteral duplication, Truncus arterios... |
OMIM:617516 |
| Anterior Segment Dysgenesis 2 |
|
Congenital aphakia, Corneal opacity, Microcornea, Coloboma, Peters anomaly, Cataract, Microphthal... |
OMIM:610256 |
| Holoprosencephaly-Radial Heart Renal Anomalies Syndrome |
|
Renal hypoplasia/aplasia, Holoprosencephaly, Hypoplasia of the radius, Abnormality of the humerus... |
ORPHA:3186 |
| Mental Retardation, X-Linked 91 |
|
Small hand, Short 5th finger, Short nose, Cubitus valgus, Short foot, Clinodactyly |
OMIM:300577 |
| Delpire-Mcneill Syndrome |
|
Ventricular septal defect, Tracheoesophageal fistula, Dysphagia, Hip dislocation |
OMIM:619083 |
| Pseudotrisomy 13 Syndrome |
|
Cleft upper lip, Anal atresia, Hydrocephalus, Tricuspid atresia, Atrial septal defect, 2-3 toe sy... |
OMIM:264480 |
| Bardet-Biedl Syndrome 5 |
|
Rod-cone dystrophy, Syndactyly, Brachydactyly, Polydactyly, Macular dystrophy |
OMIM:615983 |
| Seckel Syndrome 9 |
|
Talipes equinovarus, Atrial septal defect, Convex nasal ridge, Recurrent urinary tract infections... |
OMIM:616777 |
| Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development |
|
Cleft upper lip, Hematuria, Cleft palate, Microphthalmia |
OMIM:120433 |
| Familial Median Cleft Of The Upper And Lower Lips |
|
Cleft upper lip, Diastema, Fusion of gums, Irregular dentition, Median cleft lip, Cleft lower lip |
ORPHA:401942 |
| Microspherophakia And/Or Megalocornea, With Ectopia Lentis And With Or Without Secondary Glaucoma |
|
Microspherophakia, Megalocornea, Iridodonesis, Deep anterior chamber, Ectopia lentis |
OMIM:251750 |
| 8P23.1 Microdeletion Syndrome |
|
Abnormal cardiac septum morphology, Hypoplastic left heart, Atrioventricular canal defect, Hyposp... |
ORPHA:251071 |
| Burn-Mckeown Syndrome |
|
Abnormal cardiac septum morphology, Bilateral choanal atresia, Short nose, Prominent nasal bridge... |
ORPHA:1200 |
| Central Areolar Choroidal Dystrophy |
|
Perifoveal ring of hyperautofluorescence, Full-thickness macular hole, Absent retinal pigment epi... |
ORPHA:75377 |
| Pallister-Hall Syndrome |
|
Cleft palate, Depressed nasal bridge, Ventricular septal defect, Y-shaped metacarpals, Short nose... |
OMIM:146510 |
| Diaphragmatic Hernia 4, With Cardiovascular Defects |
|
Bulbous nose, Clinodactyly of the 5th finger, Talipes equinovarus, 2-3 toe syndactyly, Hepatomega... |
OMIM:620025 |
| Familial Drusen |
|
Perifoveal ring of hyperautofluorescence, Granular macular appearance, Abnormality of retinal pig... |
ORPHA:75376 |
| Autosomal Dominant Keratitis |
|
Keratitis, Hypoplastic iris stroma, Corneal neovascularization, Opacification of the corneal stro... |
ORPHA:2334 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
|
Hypoplasia of the retina, Hydrocephalus, Retinal degeneration, Buphthalmos, Megalocornea, Opacifi... |
OMIM:253280 |
| Pagod Syndrome |
|
Renal hypoplasia/aplasia, Hypoplastic left heart, Multicystic kidney dysplasia, Abnormality of th... |
ORPHA:991 |
| Burn-Mckeown Syndrome |
|
Cleft upper lip, Narrow mouth, 2-3 toe syndactyly, Atrial septal defect, Cleft palate, Thin vermi... |
OMIM:608572 |
| Partial Atrioventricular Septal Defect |
|
Double outlet right ventricle, Partial atrioventricular canal defect, Bacterial endocarditis, Ano... |
ORPHA:1330 |
| Recombinant 8 Syndrome |
|
Cleft upper lip, Gingival overgrowth, Clinodactyly of the 5th finger, Atrial septal defect, Cleft... |
ORPHA:96167 |
| 17Q21.31 Microduplication Syndrome |
|
High palate, Clinodactyly of the 5th finger, Abnormality of the dentition, Short philtrum, Short ... |
ORPHA:217340 |
| Autosomal Recessive Amelia |
|
Abnormal cardiac septum morphology, Hypoplasia of penis, Acromelia of the lower limbs, Oral cleft... |
ORPHA:1027 |
| Pierre Robin Sequence With Facial And Digital Anomalies |
|
Short distal phalanx of finger, Clinodactyly of the 5th finger, Easily subluxated first metacarpo... |
OMIM:311895 |
| X-Linked Retinal Dysplasia |
|
Abnormality of retinal pigmentation, Abnormal retinal vascular morphology, Retinal dysplasia |
ORPHA:1852 |
| Albinism, Oculocutaneous, Type Iv |
|
Blue irides, Hypopigmentation of hair, Albinism, Macular hypoplasia, Hypopigmentation of the fundus |
OMIM:606574 |
| Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta |
|
Atrial septal defect, Hypoplastic left heart, Abnormal descending aorta morphology, Anomalous ori... |
ORPHA:99050 |
| Cardiac, Facial, And Digital Anomalies With Developmental Delay |
|
Double outlet right ventricle, Hypoplastic left heart, Pulmonic stenosis, Coarctation of aorta, P... |
OMIM:618164 |
| Apert Syndrome |
|
Hydrocephalus, Cleft palate, Cutaneous syndactyly, Delayed eruption of teeth, Rhizomelic arm shor... |
OMIM:101200 |
| Foveal Hypoplasia 2 |
|
Axenfeld anomaly, Posterior embryotoxon, Hypoplasia of the fovea, Foveal hyperpigmentation, Optic... |
OMIM:609218 |
| Ring Chromosome 8 Syndrome |
|
Abnormality of the ureter, Deviation of finger, Short nose, Hydronephrosis, Anteverted nares |
ORPHA:1450 |
| Acces Syndrome |
|
Ectrodactyly, Clinodactyly of the 5th finger, Split foot, Tracheoesophageal fistula, Horseshoe ki... |
OMIM:619959 |
| Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Cleft palate, Depressed nasal bridge, Pulmonary hypoplasia, Microphthalmia, Short long bone, Anal... |
OMIM:617925 |
| Retinopathy, Pericentral Pigmentary, Dominant |
|
Retinopathy, Attenuation of retinal blood vessels, Pigmentary retinopathy, Retinal dystrophy, Ret... |
OMIM:180210 |
| Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities |
|
Unilateral wrist flexion contracture, Talipes equinovarus, Overlapping fingers, Pulmonary hypopla... |
OMIM:616531 |
| Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
High palate, Cleft palate, Short uvula, Micromelia, Microdontia, Pulmonary hypoplasia, Bowing of ... |
OMIM:614091 |
| Chromosome 1Q41-Q42 Deletion Syndrome |
|
High palate, Cleft upper lip, Talipes equinovarus, Cleft palate, Holoprosencephaly, 3-4 finger cu... |
OMIM:612530 |
| Lissencephaly Syndrome, Norman-Roberts Type |
|
Atrial septal defect, Adducted thumb, Wide nose, Patent foramen ovale, Hypoplastic spleen, Rocker... |
ORPHA:89844 |
| Simpson-Golabi-Behmel Syndrome, Type 2 |
|
High palate, Wide mouth, Cleft palate, Congenital hip dislocation, Tapered finger, Single transve... |
OMIM:300209 |
| Larsen-Like Osseous Dysplasia-Short Stature Syndrome |
|
Abnormal cardiac septum morphology, Clinodactyly of the 5th finger, Brachydactyly, Abnormal metac... |
ORPHA:2370 |
| Stargardt Disease |
|
Yellow/white lesions of the macula, Abnormal foveal morphology, Macular degeneration, Retinal pig... |
ORPHA:827 |
| Robinow Syndrome, Autosomal Dominant 3 |
|
Triangular mouth, Cleft palate, Depressed nasal bridge, Ventricular septal defect, Short nose, An... |
OMIM:616894 |
| Joubert Syndrome 16 |
|
Encephalocele, Polydactyly, Retinal dystrophy, Coloboma |
OMIM:614465 |
| Coloboma Of Macula With Type B Brachydactyly |
|
Type B brachydactyly, Coloboma, Bifid distal phalanx of the thumb, Broad distal phalanx of the th... |
OMIM:120400 |
| Thoracoabdominal Syndrome |
|
Cleft upper lip, Hydrocephalus, Cleft palate, Renal agenesis, Hypospadias, Anencephaly, Ectopia c... |
OMIM:313850 |
| Greig Cephalopolysyndactyly Syndrome |
|
Hydrocephalus, Finger syndactyly, Preaxial hand polydactyly, Broad hallux phalanx, Postaxial hand... |
ORPHA:380 |
| Macular Dystrophy, Retinal, 2 |
|
Perifoveal ring of hyperautofluorescence, Macular dystrophy, Granular macular appearance, Retinal... |
OMIM:608051 |
| Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Anal atresia, Microphthalmia, Cleft palate, Postaxial polydactyly, Preaxial polydactyly, Bifid to... |
OMIM:616300 |
| Microphthalmia, Isolated, With Coloboma 4 |
|
Microphthalmia, Microcornea, Coloboma |
OMIM:251505 |
| X-Linked Intellectual Disability, Siderius Type |
|
Cleft upper lip, Broad nasal tip, Oral cleft, Large hands, Preaxial hand polydactyly |
ORPHA:85287 |
| Craniosynostosis With Anomalies Of The Cranial Base And Digits |
|
Absent thumb, Absent middle phalanx of 2nd finger, Proximal placement of hallux, Proximal placeme... |
OMIM:218530 |
| Dextrocardia |
|
Congenital malformation of the great arteries, Intestinal malrotation, Abnormality of the ureter,... |
ORPHA:1666 |
| Cayler Cardiofacial Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Tetralogy of Fallot |
OMIM:125520 |
| Renpenning Syndrome |
|
Anal atresia, Narrow mouth, Clinodactyly of the 5th finger, High, narrow palate, Cleft palate, He... |
ORPHA:3242 |
| Frontofacionasal Dysplasia |
|
Microphthalmia, Depressed nasal ridge, Cleft palate, Dimple on nasal tip, Depressed nasal bridge,... |
ORPHA:1791 |
| Microcephaly, Corpus Callosum Dysgenesis, And Cleft Lip/Palate |
|
Cleft upper lip, Preaxial hand polydactyly, Cleft palate |
OMIM:601420 |
| Bardet-Biedl Syndrome 12 |
|
Polydactyly, Rod-cone dystrophy |
OMIM:615989 |
| Rubinstein-Taybi Syndrome 1 |
|
High palate, Dental crowding, Prominent fingertip pads, Cleft palate, Single transverse palmar cr... |
OMIM:180849 |
| Congenitally Corrected Transposition Of The Great Arteries |
|
Ventricular septal defect, Abnormal aortic valve cusp morphology, Abnormal heart morphology, Righ... |
ORPHA:216694 |
| Split hand/foot malformation 1 (SHFM1) |
|
2-3 toe syndactyly, Cleft palate, Split foot, Abnormality of the urinary system, Median cleft lip... |
DECIPHER:46 |
| Vater/Vacterl Association |
|
Hypoplasia of the radius, Tracheoesophageal fistula, Radioulnar synostosis, Ventricular septal de... |
OMIM:192350 |
| Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome |
|
Anophthalmia, Microphthalmia |
ORPHA:85275 |
| Meier-Gorlin Syndrome 7 |
|
High palate, Bowing of the legs, Anal atresia, 2-3 toe syndactyly, Atrial septal defect, Narrow m... |
OMIM:617063 |
| Tetralogy Of Fallot |
|
Clinodactyly of the 5th finger, Thin vermilion border, Abnormal nasal morphology, Brachydactyly, ... |
ORPHA:3303 |
| Femoral-Facial Syndrome |
|
Cleft palate, Short fourth metatarsal, Radioulnar synostosis, Ventricular septal defect, Short no... |
OMIM:134780 |
| Primary Pulmonary Hypoplasia |
|
Secundum atrial septal defect, Cleft palate, Abnormal tracheal morphology, Ureteral stenosis, Dex... |
ORPHA:2257 |
| Constricting Bands, Congenital |
|
Cleft upper lip, Talipes equinovarus, Cleft palate, Syndactyly, Bladder exstrophy, Ectopia cordis... |
OMIM:217100 |
| Acromelic Frontonasal Dysostosis |
|
Cleft upper lip, U-Shaped upper lip vermilion, Talipes equinovarus, Cleft palate, Preaxial polyda... |
OMIM:603671 |
| Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome |
|
Optic atrophy, Abnormality of retinal pigmentation, Microphthalmia |
ORPHA:1574 |
| Odontochondrodysplasia 1 |
|
Cone-shaped epiphyses of the phalanges of the hand, Nephronophthisis, Micromelia, Delayed eruptio... |
OMIM:184260 |
| Laryngotracheoesophageal Cleft Type 4 |
|
Abnormal cardiac septum morphology, Intestinal atresia, Tracheoesophageal fistula, Abnormality of... |
ORPHA:93941 |
| Acro-Renal-Mandibular Syndrome |
|
High palate, Renal hypoplasia/aplasia, Aplasia/Hypoplasia of the tongue, Split foot, Hypoplasia o... |
ORPHA:958 |
| Oculocutaneous Albinism Type 6 |
|
Abnormal iris pigmentation, Aplasia/Hypoplasia of the macula, Abnormal fundus morphology, Abnorma... |
ORPHA:370097 |
| Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Narrow mouth, Arteriovenous malformation, Abnormal hip bone morphology, Genu varum, Carious teeth... |
ORPHA:1110 |
| Congenitally Uncorrected Transposition Of The Great Arteries |
|
Abnormal pulmonary valve morphology, Abnormal mitral valve morphology, Anomalous pulmonary venous... |
ORPHA:860 |
| Van Der Woude Syndrome 2 |
|
Cleft upper lip, Anodontia, Cleft palate |
OMIM:606713 |
| Marden-Walker Syndrome |
|
High palate, Narrow mouth, Talipes equinovarus, High, narrow palate, Cleft palate, Micropenis, Ar... |
OMIM:248700 |
| 3P25.3 Microdeletion Syndrome |
|
Cleft palate, Depressed nasal bridge, 2-3 finger syndactyly, Short philtrum, Tapered finger, Broa... |
ORPHA:435638 |
| Van Esch-O'Driscoll Syndrome |
|
Pulmonary valve atresia, Wide mouth, Clinodactyly of the 5th finger, Atrial septal defect, Trache... |
OMIM:301030 |
| Charge Syndrome |
|
Cleft palate, Tracheoesophageal fistula, Down-sloping shoulders, Hypoplasia of the ulna, Ventricu... |
OMIM:214800 |
| Microphthalmia With Limb Anomalies |
|
High palate, Hydrocephalus, Cleft palate, Macrodontia, True anophthalmia, Abnormality of the uppe... |
ORPHA:1106 |
| Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome |
|
Genu valgum, Cataract, Aplasia/Hypoplasia of the lens |
ORPHA:1381 |
| Intellectual Developmental Disorder, Autosomal Dominant 66 |
|
Clinodactyly of the 5th finger, Secundum atrial septal defect, Toe clinodactyly, Arachnodactyly, ... |
OMIM:619910 |
| Ectrodactyly Of Lower Limbs, Congenital Heart Defect, And Micrognathia |
|
Ventricular septal defect, Hypoplastic right heart, Tetralogy of Fallot, Split foot |
OMIM:601348 |
| Meckel Syndrome, Type 2 |
|
Microphthalmia, Cleft palate, Intestinal malrotation, Anencephaly, Polydactyly, Postaxial hand po... |
OMIM:603194 |
| Meckel Syndrome, Type 6 |
|
Cleft upper lip, Aplasia of the bladder, Hydrocephalus, Talipes equinovarus, Cleft palate, Anence... |
OMIM:612284 |
| Phaver Syndrome |
|
Myelomeningocele, Depressed nasal bridge, Broad hallux phalanx, Camptodactyly of finger, Coarctat... |
ORPHA:2876 |
| Diprosopus |
|
Abnormal cardiac septum morphology, Anencephaly, Cleft palate, Non-midline cleft lip |
ORPHA:1681 |
| Aortic Arch Anomaly With Peculiar Facies And Mental Retardation |
|
Right aortic arch with mirror image branching |
OMIM:107500 |
| 22Q11.2 Duplication Syndrome |
|
Hypoplastic left heart, Cleft palate, Depressed nasal ridge, Tetralogy of Fallot, Ventricular sep... |
ORPHA:1727 |
| Camptosynpolydactyly, Complex |
|
Cutaneous syndactyly, Syndactyly, Polydactyly, Camptodactyly |
OMIM:607539 |
| Leber Congenital Amaurosis |
|
Abnormality of retinal pigmentation, Keratoconus, Cataract, Abnormal optic disc morphology, Encep... |
ORPHA:65 |
| Adams-Oliver Syndrome |
|
Short distal phalanx of finger, Absent hand, Arteriovenous malformation, Abnormal pulmonary valve... |
ORPHA:974 |
| Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Broad phalanx, Exocrine pancreatic insufficiency, Atrioventricular canal defect, Broad hallux, Ve... |
ORPHA:508498 |
| Tetralogy Of Fallot |
|
Clinodactyly of the 5th finger, Tetralogy of Fallot |
OMIM:187500 |
| Hereditary Mucoepithelial Dysplasia |
|
Gingival overgrowth, Tracheoesophageal fistula, Hematuria, Furrowed tongue, Abnormality of the bl... |
ORPHA:1839 |
| Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome |
|
Cleft palate, Camptodactyly of finger, Brachydactyly, Finger clinodactyly, Tetralogy of Fallot, B... |
ORPHA:306542 |
| Townes-Brocks Syndrome 1 |
|
Tracheoesophageal fistula, Ventricular septal defect, Anal atresia, Rectoperineal fistula, Tetral... |
OMIM:107480 |
| Isolated Aniridia |
|
Peters anomaly, Aniridia, Cataract, Aplasia/Hypoplasia of the macula |
ORPHA:250923 |
| Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects |
|
Bulbous nose, Talipes equinovarus, Depressed nasal bridge, Transposition of the great arteries, P... |
OMIM:616789 |
| Retinitis Pigmentosa 40 |
|
Bone spicule pigmentation of the retina, Cataract, Attenuation of retinal blood vessels, Rod-cone... |
OMIM:613801 |
| Multiple Synostoses Syndrome 3 |
|
Cleft palate, Limited interphalangeal movement, Cutaneous syndactyly of toes, Metatarsal synostos... |
OMIM:612961 |
| Oculocerebrocutaneous Syndrome |
|
Orbital encephalocele, Cleft palate, Congenital hip dislocation, Anophthalmia, Microphthalmia |
OMIM:164180 |
| Eye Defects-Arachnodactyly-Cardiopathy Syndrome |
|
Clinodactyly of the 5th finger, Cleft palate, Abnormal hip bone morphology, Arachnodactyly, Radio... |
ORPHA:2725 |
| Developmental Delay With Or Without Dysmorphic Facies And Autism |
|
Abnormal cardiac septum morphology, Wide mouth, Bulbous nose, Cleft palate, Depressed nasal bridg... |
OMIM:618454 |
| Keutel Syndrome |
|
Short distal phalanx of finger, Peripheral pulmonary artery stenosis, Cartilaginous ossification ... |
OMIM:245150 |
| Orofaciodigital Syndrome Viii |
|
High palate, Cleft palate, Short tibia, Broad nasal tip, Syndactyly, Polydactyly, Recurrent aspir... |
OMIM:300484 |
| Vacterl With Hydrocephalus |
|
Anal atresia, Hydrocephalus, Renal hypoplasia/aplasia, Aqueductal stenosis, Renal agenesis, Trach... |
ORPHA:3412 |
| Prune Belly Syndrome |
|
Abnormality of the ureter, Congenital hip dislocation, Ventricular septal defect, Congenital post... |
ORPHA:2970 |
| Anencephaly 1 |
|
Spina bifida, Anencephaly |
OMIM:206500 |
| Neural Tube Defects, X-Linked |
|
Spina bifida, Anencephaly |
OMIM:301410 |
| Cleft Lip-Retinopathy Syndrome |
|
Retinopathy, Abnormality of retinal pigmentation |
ORPHA:1995 |
| Mosaic Trisomy 16 |
|
Wide mouth, Single coronary artery origin, Craniofacial asymmetry, Ventricular septal defect, Sin... |
ORPHA:1708 |
| Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly |
|
Cleft upper lip, Cleft palate, Micropenis, Hypospadias, Coarctation of aorta, Tetralogy of Fallot... |
OMIM:600460 |
| Ververi-Brady Syndrome |
|
Metaphyseal irregularity, Bulbous nose, Clinodactyly of the 5th finger, Broad nasal tip, Wide nos... |
OMIM:617982 |
| Goiter, Multinodular, Cystic Renal Disease, And Digital Anomalies |
|
Postaxial hand polydactyly, Renal cyst, Preaxial foot polydactyly, Bilateral triphalangeal thumbs |
OMIM:138790 |
| Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome |
|
Postaxial hand polydactyly, Preaxial foot polydactyly, Triphalangeal thumb, Multicystic kidney dy... |
ORPHA:2091 |
| Diabetic Embryopathy |
|
Hydrocephalus, Micropenis, Ureteral duplication, Tetralogy of Fallot, Ventricular septal defect, ... |
ORPHA:1926 |
| Microphthalmia-Microtia-Fetal Akinesia Syndrome |
|
Microphthalmia, Hypoplasia of penis, Abnormality of the upper urinary tract, Camptodactyly of fin... |
ORPHA:2547 |
| Nephronophthisis 16 |
|
Aortic valve stenosis, Periportal fibrosis, Nephronophthisis, Pulmonic stenosis, Cholestasis, Enl... |
OMIM:615382 |
| Microcephaly And Chorioretinopathy, Autosomal Recessive, 1 |
|
Abnormality of retinal pigmentation, Microphthalmia, Retinal detachment, Retinal dystrophy, Optic... |
OMIM:251270 |
| Orofaciodigital Syndrome V |
|
High palate, Hypodontia, Cleft palate, Postaxial polydactyly, Bifid tongue, Bifid uvula, Tetralog... |
OMIM:174300 |
| Linear Skin Defects With Multiple Congenital Anomalies 2 |
|
Atrial septal defect, Long philtrum, Tetralogy of Fallot, Short nose, Sandal gap, Ventricular hyp... |
OMIM:300887 |
| Serkal Syndrome |
|
Abnormal penis morphology, Hypospadias, Malrotation of small bowel, Renal agenesis, Hypoplasia of... |
ORPHA:139466 |
| Fibular Hemimelia |
|
Arthralgia of the hip, Abnormality of fibula morphology, Genu valgum, Hip subluxation, Abnormal h... |
ORPHA:93323 |
| 22Q11.2 Deletion Syndrome |
|
Cholelithiasis, Tricuspid atresia, Bulbous nose, Cleft palate, Abnormality of the dentition, Shor... |
ORPHA:567 |
| Ankyloblepharon Filiforme Adnatum-Imperforate Anus Syndrome |
|
Tooth agenesis, Cleft palate, Non-midline cleft lip |
ORPHA:1074 |
| Jawad Syndrome |
|
Postaxial polydactyly, Single interphalangeal crease of fifth finger, Absent fourth finger distal... |
OMIM:251255 |
| Hyperreflexia |
|
Abnormality of retinal pigmentation |
OMIM:145290 |
| Treacher-Collins Syndrome |
|
High palate, Wide mouth, Cleft upper lip, Tooth agenesis, Narrow mouth, Hypoplasia of penis, Clef... |
ORPHA:861 |
| Deafness, Onychodystrophy, Osteodystrophy, Mental Retardation, And Seizures Syndrome |
|
High palate, Bulbous nose, Cleft palate, Ventricular septal defect, Open mouth, Thick lower lip v... |
OMIM:220500 |
| Retinitis Pigmentosa 39 |
|
Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, Rod-cone dystrophy |
OMIM:613809 |
| Xk Aprosencephaly Syndrome |
|
Anal atresia, Narrow mouth, Atrial septal defect, Abnormal morphology of the radius, Ventricular ... |
ORPHA:3469 |
| Fadd-Related Immunodeficiency |
|
Ventricular septal defect, Hepatic fibrosis, Pulmonary artery atresia |
ORPHA:306550 |
| Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Chordee, Anal atresia, Hydrocephalus, Atrial septal defect, Cleft palate, Micropenis, Hypospadias... |
OMIM:309801 |
| Phosphoribosylaminoimidazole Carboxylase Deficiency |
|
Clinodactyly of the 5th finger, Talipes equinovarus, Tracheoesophageal fistula, Depressed nasal b... |
OMIM:619859 |
| Microphthalmia, Syndromic 8 |
|
Cleft upper lip, Cleft palate, Split foot, Oral cleft, Microphthalmia, Widely-spaced maxillary ce... |
OMIM:601349 |
| Bardet-Biedl Syndrome 9 |
|
Retinal degeneration, Rod-cone dystrophy, Postaxial polydactyly, Syndactyly, Brachydactyly, Polyd... |
OMIM:615986 |
| Mckusick-Kaufman Syndrome |
|
High palate, Cleft palate, Ventricular septal defect, Ectopic anus, Anal atresia, Tetralogy of Fa... |
ORPHA:2473 |
| Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect |
|
Ventricular septal defect, Preaxial foot polydactyly, Polysyndactyly of hallux |
OMIM:235750 |
| Weyers Ulnar Ray/Oligodactyly Syndrome |
|
Cleft upper lip, High palate, Aplasia/Hypoplasia of the ulna, Cleft palate, Hand oligodactyly, Hy... |
OMIM:602418 |
| Microphthalmia, Isolated 1 |
|
Anophthalmia, Microphthalmia |
OMIM:251600 |
| Infantile Myofibromatosis |
|
Neoplasm of the pancreas, Tracheoesophageal fistula, Abnormality of the kidney, Neoplasm of the l... |
ORPHA:2591 |
| Fraser Syndrome 1 |
|
Cleft palate, Depressed nasal bridge, Cleft ala nasi, Pulmonary hypoplasia, Abnormality of the th... |
OMIM:219000 |
| Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects |
|
Duodenal atresia, Muscular ventricular septal defect, Unilateral renal agenesis, Tracheoesophagea... |
OMIM:619227 |
| Otopalatodigital Syndrome Type 2 |
|
Abnormal cardiac septum morphology, Cleft palate, Depressed nasal bridge, Ureteral obstruction, S... |
ORPHA:90652 |
| Cleft Lip/Palate With Characteristic Facies, Intestinal Malrotation, And Lethal Congenital Heart Disease |
|
Cleft upper lip, Abnormality of the tongue, Intestinal malrotation, Partial duplication of thumb ... |
OMIM:601165 |
| Alg3-Cdg |
|
High palate, Metaphyseal chondrodysplasia, Macroglossia, Coarctation of the descending aortic arc... |
ORPHA:79321 |
| Grouped Pigmentation Of The Retina |
|
Abnormality of retinal pigmentation |
OMIM:233800 |
| Charge Syndrome |
|
Abnormal cardiac septum morphology, Cleft palate, Tracheoesophageal fistula, Depressed nasal brid... |
ORPHA:138 |
| Bardet-Biedl Syndrome 10 |
|
Abnormality of the kidney, Renal cyst, Polydactyly, Renal insufficiency |
OMIM:615987 |
| Feingold Syndrome Type 1 |
|
Tricuspid atresia, Tricuspid stenosis, Horseshoe kidney, Abnormal heart morphology, Anal atresia,... |
ORPHA:391641 |
| Baraitser-Winter Syndrome 1 |
|
Cleft upper lip, Wide mouth, Bicuspid aortic valve, Aortic valve stenosis, Micropenis, Long philt... |
OMIM:243310 |
| Weiss-Kruszka Syndrome |
|
Bicuspid aortic valve, Clinodactyly of the 5th finger, Left ventricular hypertrophy, Dextrotransp... |
OMIM:618619 |
| Heart And Brain Malformation Syndrome |
|
Gastroesophageal reflux, High, narrow palate, Everted lower lip vermilion, Depressed nasal bridge... |
OMIM:616920 |
| Congenital Heart Defects, Multiple Types, 5 |
|
Double outlet right ventricle, Bicuspid aortic valve, Aortic valve stenosis, Atrial septal defect... |
OMIM:617912 |
| Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly |
|
Clinodactyly of the 5th finger, Talipes equinovarus, 2-3 toe syndactyly, Cutaneous syndactyly, Br... |
OMIM:236500 |
| 20Q13.33 Microdeletion Syndrome |
|
Bulbous nose, Abnormal cardiac ventricle morphology, Talipes equinovarus, Atrial septal defect, T... |
ORPHA:261311 |
| Greig Cephalopolysyndactyly Syndrome |
|
Hydrocephalus, Joint contracture of the hand, Hypospadias, Broad hallux phalanx, Camptodactyly of... |
OMIM:175700 |
| Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Hepatomegaly, Ventricular septal defect, Rocker bottom foot, Double outlet right ventricle, Talip... |
OMIM:301056 |
| Ankyloblepharon Filiforme Adnatum And Cleft Palate |
|
Cleft upper lip, Cleft palate |
OMIM:106250 |
| 2Q24 Microdeletion Syndrome |
|
Bullet-shaped distal phalanx of the hallux, Cleft palate, Short philtrum, Camptodactyly of finger... |
ORPHA:1617 |
| Congenital Heart Defects, Multiple Types, 4 |
|
Aortic valve stenosis, Hypoplastic left heart, Atrioventricular canal defect, Coarctation of aort... |
OMIM:615779 |
| Charlie M Syndrome |
|
Narrow mouth, Tooth agenesis, Thin vermilion border, Short philtrum, Brachydactyly, Abnormal meta... |
ORPHA:1406 |
| Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Cleft palate, Femoral bowing, Cone-shaped epiphysis, Short digit, Enlarged kidney, Hypoplasia of ... |
OMIM:613091 |
| Zaki Syndrome |
|
High palate, Ectrodactyly, Wide mouth, Renal agenesis, Hypoplasia of the phalanges of the toes, B... |
OMIM:619648 |
| Hyperlysinemia |
|
High palate, Argininuria, Gastroesophageal reflux, Cystinuria, Depressed nasal ridge, Pulmonary a... |
ORPHA:2203 |
| Isotretinoin-Like Syndrome |
|
Bicuspid aortic valve, Abnormal cardiac ventricle morphology, Aortic valve stenosis, Gastroesopha... |
ORPHA:2306 |
| 3C Syndrome |
|
Abnormal mitral valve morphology, Cleft palate, Atrioventricular canal defect, Depressed nasal br... |
ORPHA:7 |
| Hartsfield Syndrome |
|
Cleft palate, Aplasia/Hypoplasia of the radius, Non-midline cleft lip, Microphthalmia, Split hand... |
ORPHA:2117 |
| Orofaciodigital Syndrome Type 10 |
|
Mesomelic leg shortening, Short toe, Hypoplasia of proximal radius, Preaxial polydactyly, Depress... |
ORPHA:2756 |
| Penile Agenesis |
|
Anal atresia, Urethral atresia, male, Rectal fistula, Urethral fistula, Atrial septal defect, Bil... |
ORPHA:49 |
| Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction |
|
Bulbous nose, Atrial septal defect, Micropenis, Tapered finger, Ventricular septal defect, Short ... |
OMIM:613870 |
| 8P23.1 Duplication Syndrome |
|
Pulmonic stenosis, Long philtrum, Tetralogy of Fallot, Ventricular septal defect, Wide nose, Hydr... |
ORPHA:251076 |
| Retinitis Pigmentosa 9 |
|
Rod-cone dystrophy, Macular edema, Cataract, Macular atrophy, Bone spicule pigmentation of the re... |
OMIM:180104 |
| Juberg-Hayward Syndrome |
|
Cleft upper lip, Abnormality of toe, Limited elbow extension, Horseshoe kidney, Anteriorly placed... |
OMIM:216100 |
| Nphp3-Related Meckel-Like Syndrome |
|
Intestinal malrotation, Multicystic kidney dysplasia, Pulmonary hypoplasia, Renal dysplasia |
ORPHA:3032 |
| Orofacial Cleft 10 |
|
Unilateral cleft lip, Unilateral cleft palate |
OMIM:613705 |
| Hyperphosphatasia With Impaired Intellectual Development Syndrome 1 |
|
Short distal phalanx of finger, Cleft upper lip, Short toe, Delayed ossification of carpal bones,... |
OMIM:239300 |
| Bartsocas-Papas Syndrome 1 |
|
Short metacarpal, Absent thumb, Cleft palate, Short nose, Facial cleft, Microphthalmia, Cleft upp... |
OMIM:263650 |
| 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 |
| Blue Cone Monochromatism |
|
Abnormality of retinal pigmentation, Corneal dystrophy |
ORPHA:16 |
| Acrocallosal Syndrome |
|
High palate, Abnormal cardiac septum morphology, Wide mouth, Triangular mouth, Cleft palate, Shor... |
OMIM:200990 |
| Renal Agenesis, Bilateral |
|
Cleft palate, Renal agenesis, Tracheoesophageal fistula, Sirenomelia, Pulmonary hypoplasia, Non-m... |
ORPHA:1848 |
| Tonne-Kalscheuer Syndrome |
|
Narrow mouth, Velopharyngeal insufficiency, Micropenis, Hypospadias, Brachydactyly, Downturned co... |
OMIM:300978 |
| Heart Defects, Congenital, And Other Congenital Anomalies |
|
Hypoplastic tricuspid valve, Biliary atresia, Glycosuria, Pancreatic hypoplasia, Ventricular sept... |
OMIM:600001 |
| Congenital Hypothyroidism |
|
Nephrolithiasis, Macroglossia, Abnormal pericardium morphology, Depressed nasal ridge, Tracheoeso... |
ORPHA:442 |
| Retinitis Pigmentosa 37 |
|
Cystoid macular degeneration, Cataract, Pigmentary retinopathy, Rod-cone dystrophy |
OMIM:611131 |
| Microphthalmia, Isolated 5 |
|
Foveoschisis, Abnormal foveal morphology, Rod-cone dystrophy, Cystoid macular edema, Optic disc d... |
OMIM:611040 |
| Macrosomia-Microphthalmia-Cleft Palate Syndrome |
|
Median cleft palate, Recurrent respiratory infections, Microphthalmia |
ORPHA:2432 |
| Distal Monosomy 15Q |
|
Double outlet right ventricle with doubly committed ventricular septal defect and pulmonary steno... |
ORPHA:1596 |
| Leber Congenital Amaurosis 8 |
|
Chorioretinal atrophy, Nummular pigmentation of the fundus, Pigmentary retinopathy, Choriocapilla... |
OMIM:613835 |
| Criss-Cross Heart |
|
Mitral stenosis, Abnormal mitral valve morphology, Pulmonic stenosis, Tricuspid stenosis, Ventric... |
ORPHA:1461 |
| Braddock-Carey Syndrome 1 |
|
U-Shaped upper lip vermilion, Talipes equinovarus, Cleft palate, Everted lower lip vermilion, Sma... |
OMIM:619980 |
| Down Syndrome |
|
Atrioventricular canal defect, Single transverse palmar crease, Ventricular septal defect, Sandal... |
OMIM:190685 |
| Bardet-Biedl Syndrome 17 |
|
Mesoaxial hand polydactyly, Short fourth metatarsal, Hyposmia, Micropenis, Polyuria, Brachydactyl... |
OMIM:615994 |
| Distal Tetrasomy 15Q |
|
High palate, Hydrocephalus, Atrial septal defect, Arachnodactyly, Abnormality of the kidney, Neph... |
ORPHA:314588 |
| Chromosome 6Pter-P24 Deletion Syndrome |
|
High palate, Anal atresia, Cleft upper lip, Clinodactyly of the 5th finger, Atrial septal defect,... |
OMIM:612582 |
| Cardiomyopathy, Dilated, 1S |
|
Bicuspid aortic valve, Left ventricular noncompaction, Coarctation of aorta, Pulmonary artery hyp... |
OMIM:613426 |
| Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Carious teeth, Broad hallux, Ventricular septal defect, Pneumonia, Abnormal heart morphology, Nep... |
ORPHA:353281 |
| Congenital Heart Defects And Skeletal Malformations Syndrome |
|
High palate, Anal atresia, Dental crowding, Atrial septal defect, Arachnodactyly, Intestinal malr... |
OMIM:617602 |
| Retinitis Pigmentosa 32 |
|
Photoreceptor layer loss on macular OCT, Retinal degeneration, Attenuation of retinal blood vesse... |
OMIM:609913 |
| Distal Trisomy 14Q |
|
Abnormality of the upper urinary tract, Patent ductus arteriosus, Abnormal aortic morphology, Abn... |
ORPHA:1705 |
| Weill-Marchesani Syndrome 3 |
|
Shallow anterior chamber, Microspherophakia, Brachydactyly, Ectopia lentis |
OMIM:614819 |
| Thanatophoric Dysplasia |
|
Hydrocephalus, Atrial septal defect, Abnormality of the kidney, Micromelia, Brachydactyly, Abnorm... |
ORPHA:2655 |
| Hyperphosphatasia With Impaired Intellectual Development Syndrome 2 |
|
Anal atresia, Peripheral pulmonary artery stenosis, Atrial septal defect, Cleft palate, Shortenin... |
OMIM:614749 |
| Agnathia-Otocephaly Complex |
|
Narrow mouth, Secundum atrial septal defect, Cleft palate, Holoprosencephaly, Tracheomalacia, Sit... |
OMIM:202650 |
| Orofaciodigital Syndrome Type 6 |
|
High palate, Renal hypoplasia/aplasia, Cleft palate, Preaxial polydactyly, Broad nasal tip, Renal... |
ORPHA:2754 |
| Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly |
|
2-3 finger syndactyly, Coarctation of aorta, Postaxial hand polydactyly, Broad hallux, Hamartoma ... |
OMIM:217085 |
| Mirage Syndrome |
|
Talipes equinovarus, Lymphopenia, Gastroesophageal reflux, Aspiration pneumonia, Radial club hand... |
OMIM:617053 |
| Neuroectodermal Melanolysosomal Disease |
|
Hypopigmentation of the skin, Hypopigmentation of hair, Optic atrophy, Generalized hyperpigmentat... |
ORPHA:33445 |
| Retinitis Pigmentosa 30 |
|
Rod-cone dystrophy, Chorioretinal atrophy, Attenuation of retinal blood vessels, Optic atrophy, B... |
OMIM:607921 |
| Night Blindness, Congenital Stationary, Autosomal Dominant 1 |
|
Bone spicule pigmentation of the retina, Congenital stationary night blindness |
OMIM:610445 |
| Verheij Syndrome |
|
Abnormal cardiac septum morphology, Renal agenesis, Long philtrum, Short 5th finger, Short nose, ... |
OMIM:615583 |
| Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome |
|
Aplasia/Hypoplasia of the ulna, Abnormality of femur morphology, Clinodactyly of the 5th finger, ... |
ORPHA:2141 |
| Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Hydrocephalus, Nephroblastoma, Syndactyly, Polydactyly, Ventricular septal defect, Microphthalmia... |
OMIM:602501 |
| Hydrolethalus Syndrome 2 |
|
Hydrocephalus, Anencephaly, Postaxial hand polydactyly, Postaxial foot polydactyly, Preaxial foot... |
OMIM:614120 |
| Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome |
|
Renal hypoplasia/aplasia, Cleft palate, Abnormality of the ureter, Brachydactyly, Bilateral singl... |
ORPHA:1770 |
| 1Q21.1 Microdeletion Syndrome |
|
High palate, Abnormal cardiac septum morphology, Bulbous nose, Clinodactyly of the 5th finger, Ta... |
ORPHA:250989 |
| Meckel Syndrome, Type 10 |
|
Ulnar deviation of the hand, Cleft palate, Micropenis, Postaxial polydactyly, Hypospadias, Anence... |
OMIM:614175 |
| Alar Cartilages Hypoplasia-Coloboma-Telecanthus Syndrome |
|
Convex nasal ridge, Cleft ala nasi, Non-midline cleft lip, Underdeveloped nasal alae, Wide nasal ... |
ORPHA:2007 |
| Congenital Laryngomalacia |
|
Cleft palate, Non-midline cleft lip |
ORPHA:2373 |
| Atelosteogenesis, Type Ii |
|
Talipes equinovarus, Cleft palate, Bifid humerus, Micromelia, Limb undergrowth, Short middle phal... |
OMIM:256050 |
| Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Lens subluxation, Retinal thinning, Rhizomelia, Abnormal epiphysis morphology, Bowing of the long... |
ORPHA:85167 |
| Holoprosencephaly |
|
Depressed nasal ridge, Depressed nasal tip, Ventricular septal defect, Median cleft lip and palat... |
ORPHA:2162 |
| Rosselli-Gulienetti Syndrome |
|
Cleft upper lip, Anodontia, Hypodontia, Cleft palate, Cutaneous syndactyly of toes, Microdontia, ... |
OMIM:225000 |
| Microphthalmia, Syndromic 2 |
|
Contracture of the proximal interphalangeal joint of the 3rd toe, Radiculomegaly, Broad nasal tip... |
OMIM:300166 |
| Triploidy |
|
Aplasia/Hypoplasia affecting the eye, Wide mouth, Narrow mouth, Hydrocephalus, Abnormal cardiac s... |
ORPHA:3376 |
| Meckel Syndrome, Type 1 |
|
Wide mouth, Hydrocephalus, Abnormal cardiac septum morphology, Cleft palate, Abnormality of the u... |
OMIM:249000 |
| Laurin-Sandrow Syndrome |
|
Preaxial foot polydactyly, Hydrocephalus, Absent tibia, Depressed nasal ridge, Absent radius, Pre... |
ORPHA:2378 |
| Microphthalmia, Isolated, With Coloboma 10 |
|
Anophthalmia, Microphthalmia |
OMIM:616428 |
| Heart Defects-Limb Shortening Syndrome |
|
Abnormal mitral valve morphology, Atrial septal defect, Mesomelic/rhizomelic limb shortening, Ven... |
ORPHA:1354 |
| Retinitis Pigmentosa 69 |
|
Abnormality of retinal pigmentation, Pigmentary retinopathy, Rod-cone dystrophy |
OMIM:615780 |
| Retinitis Pigmentosa 33 |
|
Rod-cone dystrophy, Attenuation of retinal blood vessels, Retinal pigment epithelial atrophy, Opt... |
OMIM:610359 |
| Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome |
|
Clinodactyly of the 5th finger, Hypoplasia of penis, Abnormal hip bone morphology, Tracheoesophag... |
ORPHA:3068 |
| Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Decreased fibular diameter, Cleft palate, Micropenis, Short femur, Hypospadias, Flared metaphysis... |
OMIM:616897 |
| Phocomelia, Schinzel Type |
|
Aplasia of the ulna, Anal atresia, Ectrodactyly, Radial bowing, Hypoplasia of penis, High, narrow... |
ORPHA:2879 |
| Short-Rib Thoracic Dysplasia 12 |
|
Hydrocephalus, Anencephaly, Lobulated tongue, Ventricular septal defect, Median cleft lip and pal... |
OMIM:269860 |
| Homocarnosinosis |
|
Abnormality of retinal pigmentation, Abnormality of skin pigmentation |
OMIM:236130 |
| Temtamy Syndrome |
|
Short toe, Clinodactyly of the 5th finger, Microphthalmia, Brachydactyly, Genu varum, Aortic aneu... |
ORPHA:1777 |
| Testicular Anomalies With Or Without Congenital Heart Disease |
|
Perineal hypospadias, Microphallus, Tetralogy of Fallot, Micropenis |
OMIM:615542 |
| Acromicric Dysplasia |
|
Abnormality of femur morphology, Bulbous nose, Fifth metacarpal with ulnar notch, Small hand, Bra... |
ORPHA:969 |
| Combined Oxidative Phosphorylation Deficiency 25 |
|
Depressed nasal bridge, Long philtrum, Short nose, Vascular dilatation, Anteverted nares, Wide na... |
OMIM:616430 |
| Chromosome 1P36 Deletion Syndrome, Proximal |
|
High palate, Bicuspid aortic valve, Atrial septal defect, Cleft palate, Bifid nasal tip, Pulmonic... |
OMIM:619343 |
| Pericardial And Diaphragmatic Defect |
|
Mitral stenosis, Pulmonary sequestration, Bicuspid aortic valve, Atrial septal defect, Morphologi... |
ORPHA:2847 |
| Chromosome 18Q Deletion Syndrome |
|
Cleft palate, Depressed nasal bridge, Short philtrum, Ventricular septal defect, Rocker bottom fo... |
OMIM:601808 |
| Williams Syndrome |
|
Cholelithiasis, Abnormal cardiac septum morphology, Wide mouth, Stroke, Abnormal carotid artery m... |
ORPHA:904 |
| Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome |
|
Atrial septal defect, Everted lower lip vermilion, Depressed nasal bridge, Long philtrum, Postaxi... |
ORPHA:75389 |
| Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
|
Short distal phalanx of finger, Bicuspid aortic valve, Anomalous pulmonary venous return, Atrial ... |
ORPHA:1120 |
| Keratoconus Posticus Circumscriptus |
|
Cleft upper lip, Clinodactyly of the 5th finger, Cleft palate, Recurrent urinary tract infections... |
OMIM:244600 |
| Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects |
|
Cleft palate, Radioulnar synostosis, Single transverse palmar crease, Short nose, Enamel agenesis... |
OMIM:614701 |
| 3Mc Syndrome 3 |
|
Cleft upper lip, Cleft palate, Micropenis, Preaxial polydactyly, Radioulnar synostosis, Penoscrot... |
OMIM:248340 |
| C Syndrome |
|
High palate, Wide mouth, Hepatomegaly, Micromelia, Ulnar deviation of finger, Ventricular septal ... |
OMIM:211750 |
| Fanconi Anemia, Complementation Group O |
|
Anal atresia, Absent thumb, Hypoplasia of the radius, Small thenar eminence, Short thumb, Renal c... |
OMIM:613390 |
| Absence Of The Pulmonary Artery |
|
Abnormal cardiac septum morphology, Pulmonary edema, Atrial septal defect, Abnormal coronary arte... |
ORPHA:980 |
| Cutis Laxa, Autosomal Recessive, Type Ic |
|
Bladder diverticulum, Gastroesophageal reflux, Tracheomalacia, Bronchomalacia, Long philtrum, Pyl... |
OMIM:613177 |
| Cerebellar Vermis Aplasia With Associated Features Suggesting Smith-Lemli-Opitz Syndrome And Meckel Syndrome |
|
Occipital encephalocele, Postaxial polydactyly |
OMIM:213010 |
| Bardet-Biedl Syndrome 4 |
|
Abnormality of the dentition, Abnormality of the kidney, Brachydactyly, Syndactyly, Polydactyly, ... |
OMIM:615982 |
| Acrofacial Dysostosis 1, Nager Type |
|
Wide mouth, Absent thumb, Cleft palate, Hypoplasia of the radius, Radioulnar synostosis, Broad ha... |
OMIM:154400 |
| Alagille Syndrome 2 |
|
Peripheral pulmonary artery stenosis, Cholestatic liver disease, Atrial septal defect, Renal tubu... |
OMIM:610205 |
| Bothnia Retinal Dystrophy |
|
Increased OCT-measured foveal thickness, Retinal degeneration, Macular degeneration, Abnormal fov... |
ORPHA:85128 |
| Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate |
