| Granulomas, Congenital Cerebral |
|
Neonatal death |
OMIM:306300 |
| Genitourinary Tract Anomalies |
|
Neonatal death |
OMIM:305690 |
| Ethanolaminosis |
|
Cardiomegaly |
OMIM:227150 |
| Facial Clefting, Oblique, 1 |
|
Tessier number 4 facial cleft, Cleft palate, Cleft upper lip |
OMIM:600251 |
| Orofacial Cleft 11 |
|
Cleft lip, Cleft palate |
OMIM:600625 |
| Pulmonary Hypoplasia, Primary |
|
Neonatal death |
OMIM:265430 |
| Lethal Congenital Contracture Syndrome 3 |
|
Neonatal death |
OMIM:611369 |
| Hernia, Anterior Diaphragmatic |
|
Neonatal death |
OMIM:306950 |
| Epidermolysis Bullosa With Diaphragmatic Hernia |
|
Neonatal death |
OMIM:226735 |
| Cardiomyopathy, Dilated, 1I |
|
Dilated cardiomyopathy, Cardiomegaly |
OMIM:604765 |
| Pyknoachondrogenesis |
|
Stillbirth |
OMIM:265880 |
| Fryns Microphthalmia Syndrome |
|
Facial cleft, Bilateral cleft lip and palate |
OMIM:600776 |
| Palatopharyngeal Incompetence |
|
Velopharyngeal insufficiency, Cleft palate |
OMIM:167500 |
| Acrofacial Dysostosis, Weyers Type |
|
Abnormality of the dentition, Conical tooth, Facial cleft, Abnormal oral frenulum morphology, Sol... |
ORPHA:952 |
| Brachial Amelia, Cleft Lip, And Holoprosencephaly |
|
Bilateral cleft palate, Facial cleft, Cleft upper lip, Bilateral cleft lip |
OMIM:601357 |
| Anophthalmia Plus Syndrome |
|
Non-midline cleft lip, Facial cleft, Cleft palate, Bilateral cleft lip and palate |
ORPHA:1104 |
| Frontonasal Dysplasia 3 |
|
Facial cleft, Cleft palate |
OMIM:613456 |
| Cerebrooculonasal Syndrome |
|
Facial cleft, Widely spaced teeth, High palate, Solitary median maxillary central incisor, Long p... |
ORPHA:66625 |
| Neutropenia, Lethal Congenital, With Eosinophilia |
|
Neonatal death |
OMIM:257100 |
| Hypertelorism, Microtia, Facial Clefting Syndrome |
|
Narrow mouth, Facial cleft, Cleft palate, Cleft upper lip |
OMIM:239800 |
| Supernumerary Nostril |
|
Facial cleft |
ORPHA:141096 |
| Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies |
|
High, narrow palate, Facial cleft, Cleft palate, Cleft upper lip |
OMIM:607597 |
| Orofacial Cleft 10 |
|
Unilateral cleft palate, Unilateral cleft lip |
OMIM:613705 |
| Oculomaxillofacial Dysostosis |
|
Median cleft lip, Facial cleft, Cleft palate, Abnormality of the dentition |
ORPHA:1794 |
| Orofacial Cleft 1 |
|
Cleft palate, Cleft upper lip |
OMIM:119530 |
| Orofacial Cleft 5 |
|
Cleft palate, Cleft upper lip |
OMIM:608874 |
| Orofacial Cleft 6, Susceptibility To |
|
Cleft palate, Cleft upper lip |
OMIM:608864 |
| Congenital Velopharyngeal Incompetence |
|
Velopharyngeal insufficiency, Abnormal palate morphology |
ORPHA:2291 |
| Bifid Uvula |
|
Submucous cleft soft palate, Cleft lip, Bifid uvula |
ORPHA:99771 |
| Uvula, Bifid |
|
Bifid uvula |
OMIM:192100 |
| Omphalocele-Cleft Palate Syndrome, Lethal |
|
Death in infancy, Bifid uvula, Cleft palate |
OMIM:258320 |
| Van Der Woude Syndrome 1 |
|
Cleft upper lip, Lower lip pit, Cleft palate, Hypodontia, Bifid uvula |
OMIM:119300 |
| Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Cardiomegaly |
ORPHA:88643 |
| Cleft Soft Palate |
|
Cleft soft palate |
OMIM:119570 |
| Thanatophoric Dysplasia, Glasgow Variant |
|
Neonatal death |
OMIM:273680 |
| Orofacial Cleft 13 |
|
Oligodontia, Cleft soft palate |
OMIM:613857 |
| Orofaciodigital Syndrome Type 5 |
|
Median cleft lip, Abnormality of the philtrum, Cleft soft palate, Accessory oral frenulum, Agangl... |
ORPHA:2919 |
| Frontofacionasal Dysplasia |
|
Non-midline cleft lip, Facial cleft, Cleft palate |
ORPHA:1791 |
| Cleft Palate, Deafness, And Oligodontia |
|
No permanent dentition, Oligodontia of primary teeth, Cleft soft palate |
OMIM:216300 |
| Acrofacial Dysostosis, Catania Type |
|
Smooth philtrum, Abnormality of the dentition, Carious teeth, Facial cleft, Tooth agenesis, Abnor... |
ORPHA:1786 |
| Cardiomyopathy, Familial Hypertrophic, 27 |
|
Cardiomegaly, Concentric hypertrophic cardiomyopathy, Ventricular septal hypertrophy, Cardiomyocy... |
OMIM:618052 |
| Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Atrial septal defect, Hypertrophic cardiomyopathy, Perimembranous ventricular septal defect, Card... |
OMIM:620135 |
| Unilateral Ocular Duplication |
|
Cleft palate, Midline facial cleft, Median cleft lip |
ORPHA:3374 |
| Cleft Palate With Or Without Ankyloglossia, X-Linked |
|
Ankyloglossia, Bifid uvula, Cleft palate |
OMIM:303400 |
| Oculocerebrocutaneous Syndrome |
|
Wide mouth, Facial cleft, Orofacial cleft |
ORPHA:1647 |
| Coffin-Siris Syndrome 11 |
|
Cleft soft palate, Esophageal atresia, Downturned corners of mouth, Wide mouth, High palate, Bifi... |
OMIM:618779 |
| Lethal Omphalocele-Cleft Palate Syndrome |
|
Bifid uvula, Unilateral cleft lip, Cleft soft palate, Cleft palate |
ORPHA:2736 |
| Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome |
|
Submucous cleft hard palate, Bifid uvula, Cleft palate |
ORPHA:2521 |
| Cleft Lip/Palate |
|
Agenesis of lateral incisor, Bilateral cleft palate, Velopharyngeal insufficiency, Abnormality of... |
ORPHA:199306 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Cardiomegaly |
OMIM:300886 |
| Attrv30M Amyloidosis |
|
Cardiomyopathy, Cardiomegaly |
ORPHA:85447 |
| Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Cardiomegaly |
OMIM:613576 |
| Constricting Bands, Congenital |
|
Facial cleft, Cleft palate, Cleft upper lip |
OMIM:217100 |
| Cleft Velum |
|
Velopharyngeal insufficiency, Cleft soft palate |
ORPHA:99772 |
| Combined Oxidative Phosphorylation Deficiency 8 |
|
Hypertrophic cardiomyopathy, Cardiomegaly |
OMIM:614096 |
| 3Mc Syndrome 3 |
|
Facial cleft, Cleft palate, Cleft upper lip |
OMIM:248340 |
| Hemifacial Hyperplasia With Strabismus |
|
Submucous cleft hard palate |
OMIM:141350 |
| Treacher-Collins Syndrome |
|
Abnormal dental morphology, Abnormal dental enamel morphology, Cleft upper lip, Open bite, Abnorm... |
ORPHA:861 |
| Ichthyosis, Congenital, Autosomal Recessive 4B |
|
Neonatal death, Death in infancy, Everted lower lip vermilion |
OMIM:242500 |
| Van Der Woude Syndrome 2 |
|
Lip pit, Cleft upper lip, Dental malocclusion, Cleft palate, Hypodontia, Anodontia |
OMIM:606713 |
| Familial Atrial Myxoma |
|
Pulmonic valve myxoma, Cardiac myxoma, Bacterial endocarditis, Cardiomegaly |
ORPHA:615 |
| Mitochondrial Complex I Deficiency, Nuclear Type 36 |
|
Perimembranous ventricular septal defect, Cardiomegaly |
OMIM:619170 |
| Bencze Syndrome |
|
Open bite, Submucous cleft hard palate |
ORPHA:1241 |
| Congenital Myopathy 8 |
|
Cardiomegaly |
OMIM:618654 |
| Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence |
|
Submucous cleft hard palate, Posteriorly placed tongue, Pierre-Robin sequence |
OMIM:192445 |
| Orofaciodigital Syndrome Xix |
|
Cleft soft palate, Accessory oral frenulum, Carious teeth, Narrow palate, Downturned corners of m... |
OMIM:620107 |
| Van Der Woude Syndrome |
|
Lip pit, Cleft upper lip, Lower lip pit, Cleft palate, Hypodontia, Abnormal salivary gland morpho... |
ORPHA:888 |
| Congenitally Uncorrected Transposition Of The Great Arteries |
|
Levotransposition of the great arteries, Hepatomegaly, Ventricular septal defect, Abnormal pulmon... |
ORPHA:860 |
| Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome |
|
Hypodontia, Lip pit, Facial cleft, Abnormal palate morphology |
ORPHA:1236 |
| Mosaic Trisomy 9 |
|
Intestinal malrotation, High palate, Facial cleft, Cleft palate |
ORPHA:99776 |
| Epidermolysis Bullosa, Junctional 6, With Pyloric Atresia |
|
Neonatal death, Esophageal stenosis, Congenital pyloric atresia, Oral mucosal blisters |
OMIM:619817 |
| Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Hepatomegaly, Dilated cardiomyopathy, Cardiomegaly |
OMIM:600649 |
| Congenital Tricuspid Valve Dysplasia |
|
Hepatomegaly, Cardiomegaly, Pericardial effusion, Anomalous pulmonary venous return, Abnormal tri... |
ORPHA:555874 |
| Fixed Subaortic Stenosis |
|
Bicuspid aortic valve, Ventricular septal defect, Cardiomegaly, Abnormal heart morphology, Abnorm... |
ORPHA:3092 |
| Isolated Childhood Apraxia Of Speech |
|
High, narrow palate, Submucous cleft hard palate |
ORPHA:209908 |
| Birk-Barel Syndrome |
|
Tented upper lip vermilion, High palate, Short philtrum, Submucous cleft soft palate, Bifid uvula |
OMIM:612292 |
| Mycophenolate Mofetil Embryopathy |
|
Tracheoesophageal fistula, Facial cleft, Orofacial cleft |
ORPHA:268249 |
| Robinow Syndrome, Autosomal Dominant 2 |
|
Thin upper lip vermilion, Dental crowding, Cleft soft palate, Abnormality of the dentition, Denta... |
OMIM:616331 |
| Neurooculocardiogenitourinary Syndrome |
|
Atrial septal defect, Ventricular septal defect, Patent foramen ovale, Cardiomegaly |
OMIM:618652 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 20 |
|
Hepatomegaly, Cardiomegaly |
OMIM:619064 |
| Congenital Toxoplasmosis |
|
Hepatomegaly, Cardiomegaly |
ORPHA:858 |
| Brachycephaly, Trichomegaly, And Developmental Delay |
|
Supernumerary tooth, Submucous cleft hard palate, Thick lower lip vermilion, Thin vermilion borde... |
OMIM:617412 |
| Attrv122I Amyloidosis |
|
Cardiomegaly, Hypertrophic cardiomyopathy, Aortic valve stenosis, Left ventricular hypertrophy, R... |
ORPHA:85451 |
| Infantile Sialic Acid Storage Disease |
|
Splenomegaly, Hepatomegaly, Cardiomegaly |
OMIM:269920 |
| Uruguay Faciocardiomusculoskeletal Syndrome |
|
Ventricular hypertrophy, Left atrial enlargement, Cardiomegaly, Cardiomyopathy, Left ventricular ... |
OMIM:300280 |
| Cardiomyopathy, Familial Hypertrophic, 4 |
|
Ventricular hypertrophy, Hepatomegaly, Cardiomegaly, Pericardial effusion, Muscular ventricular s... |
OMIM:115197 |
| Combined Oxidative Phosphorylation Deficiency 10 |
|
Pericardial effusion, Hypertrophic cardiomyopathy, Cardiomegaly |
OMIM:614702 |
| Mulibrey Nanism |
|
Hepatomegaly, Myocardial fibrosis, Pericardial constriction, Cardiomegaly |
OMIM:253250 |
| Mucopolysaccharidosis, Type Iiib |
|
Splenomegaly, Hepatomegaly, Asymmetric septal hypertrophy, Cardiomegaly |
OMIM:252920 |
| Carnitine Deficiency, Systemic Primary |
|
Hepatomegaly, Cardiomegaly, Cardiomyopathy, Endocardial fibroelastosis, Hypertrophic cardiomyopathy |
OMIM:212140 |
| Ulnar Agenesis And Endocardial Fibroelastosis |
|
Neonatal death |
OMIM:276822 |
| Chromosome 17Q12 Duplication Syndrome |
|
Esophageal atresia, Cleft soft palate, Smooth philtrum |
OMIM:614526 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 7 |
|
Ventricular hypertrophy, Hypertrophic cardiomyopathy, Cardiomegaly |
OMIM:619051 |
| Bartsocas-Papas Syndrome 1 |
|
Anal stenosis, Cleft upper lip, Facial cleft, Cleft palate, Oral synechia, Anal atresia |
OMIM:263650 |
| Acromelic Frontonasal Dysostosis |
|
U-Shaped upper lip vermilion, Midline facial cleft, Cleft palate, Cleft upper lip |
OMIM:603671 |
| Robinow Syndrome, Autosomal Recessive 2 |
|
Cleft soft palate, Abnormality of the dentition, Gingival overgrowth, Long philtrum, Triangular m... |
OMIM:618529 |
| Oculofaciocardiodental Syndrome |
|
Delayed eruption of teeth, Intestinal malrotation, Abnormality of the dentition, Submucous cleft ... |
ORPHA:2712 |
| Combined Oxidative Phosphorylation Deficiency 41 |
|
Cardiomegaly |
OMIM:618838 |
| Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome |
|
High, narrow palate, Glossoptosis, Submucous cleft hard palate, Hypodontia |
ORPHA:3201 |
| Coronary Arterial Fistula |
|
Bicuspid aortic valve, Cardiomegaly, Abnormal heart morphology, Right ventricular dilatation, Bac... |
ORPHA:2041 |
| Microcephaly 30, Primary, Autosomal Recessive |
|
Thin upper lip vermilion, Pierre-Robin sequence, Cleft soft palate |
OMIM:620183 |
| Mucopolysaccharidosis, Type Ix |
|
Submucous cleft hard palate, Bifid uvula |
OMIM:601492 |
| Frontonasal Dysplasia 2 |
|
Tessier number 13 facial cleft, Widely spaced teeth, Broad philtrum, Conical tooth |
OMIM:613451 |
| Neuraminidase Deficiency |
|
Splenomegaly, Hepatomegaly, Cardiomyopathy, Cardiomegaly |
OMIM:256550 |
| Neurodevelopmental Disorder With Or Without Autism Or Seizures |
|
Submucous cleft hard palate, Bifid uvula |
OMIM:619239 |
| Aorta Coarctation |
|
Bicuspid aortic valve, Cardiomegaly, Aortic valve atresia, Perimembranous ventricular septal defe... |
ORPHA:1457 |
| Isolated Right Ventricular Hypoplasia |
|
Cardiomegaly, Muscular ventricular septal defect, Atrial septal defect, Patent foramen ovale, Rig... |
ORPHA:439 |
| Amish Lethal Microcephaly |
|
Death in infancy, Cleft soft palate |
ORPHA:99742 |
| Timothy Syndrome |
|
Ventricular septal defect, Tetralogy of Fallot, Patent foramen ovale, Cardiomegaly |
OMIM:601005 |
| Hydrolethalus |
|
Submucous cleft hard palate, Cleft palate, Gingival cleft, Unilateral cleft lip, Bifid uvula |
ORPHA:2189 |
| Isolated Arrhinia |
|
Facial cleft |
ORPHA:1134 |
| Gaucher Disease, Type Iiic |
|
Hepatomegaly, Mitral valve calcification, Cardiomegaly, Splenomegaly, Aortic valve calcification,... |
OMIM:231005 |
| Fraser Syndrome 1 |
|
Abnormal small intestine morphology, Dental crowding, Cleft upper lip, Dental malocclusion, Facia... |
OMIM:219000 |
| Alpha-N-Acetylgalactosaminidase Deficiency |
|
Cardiomegaly |
ORPHA:3137 |
| Cantu Syndrome |
|
Pericardial effusion, Congenital hypertrophy of left ventricle, Bicuspid aortic valve, Cardiomegaly |
OMIM:239850 |
| Hemochromatosis, Type 1 |
|
Splenomegaly, Hepatomegaly, Cardiomyopathy, Cardiomegaly |
OMIM:235200 |
| Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome |
|
Facial cleft, Cleft palate |
ORPHA:306542 |
| Buratti-Harel Syndrome |
|
Velopharyngeal insufficiency, Submucous cleft hard palate, High palate, Bifid uvula |
OMIM:619314 |
| Intellectual Developmental Disorder, Autosomal Dominant 58 |
|
Dental crowding, Protruding tongue, Submucous cleft hard palate, Wide mouth, High palate, Thick v... |
OMIM:618106 |
| Multiple Epiphyseal Dysplasia, Lowry Type |
|
Cleft hard palate |
ORPHA:166016 |
| X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
|
Aortic valve stenosis, Mitral valve prolapse, Abnormal atrioventricular valve morphology, Cardiom... |
ORPHA:324410 |
| Craniosynostosis 2 |
|
Supernumerary tooth, Cleft soft palate |
OMIM:604757 |
| Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects |
|
Thin upper lip vermilion, Intestinal malrotation, Velopharyngeal insufficiency, Submucous cleft h... |
OMIM:614701 |
| Refsum Disease, Classic |
|
Cardiomyopathy, Cardiomegaly |
OMIM:266500 |
| Loeys-Dietz Syndrome 5 |
|
Tented upper lip vermilion, Cleft soft palate, Eosinophilic infiltration of the esophagus, Hiatus... |
OMIM:615582 |
| Schilbach-Rott Syndrome |
|
Submucous cleft hard palate, Bifid uvula, Narrow mouth |
OMIM:164220 |
| Arterial Calcification, Generalized, Of Infancy, 2 |
|
Right atrial enlargement, Cardiomegaly |
OMIM:614473 |
| Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome |
|
Delayed eruption of teeth, Abnormal dental enamel morphology, Conical tooth, Non-midline cleft li... |
ORPHA:1071 |
| Carnitine Palmitoyltransferase I Deficiency |
|
Hepatomegaly, Cardiomegaly |
OMIM:255120 |
| Arthrogryposis, Distal, Type 3 |
|
Submucous cleft hard palate, High palate, Bifid uvula, Cleft palate |
OMIM:114300 |
| Double Outlet Left Ventricle |
|
Double outlet left ventricle, Ventricular septal defect, Cardiomegaly, Bicuspid pulmonary valve, ... |
ORPHA:3427 |
| Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Cardiomegaly |
ORPHA:42 |
| Orofaciodigital Syndrome Type 2 |
|
Natal tooth, Median cleft lip, Hamartoma of tongue, Unilateral alveolar cleft of maxilla, Velopha... |
ORPHA:2751 |
| Combined Oxidative Phosphorylation Deficiency 33 |
|
Left ventricular hypertrophy, Hepatomegaly, Cardiomyopathy, Cardiomegaly |
OMIM:617713 |
| Heterotaxy, Visceral, 1, X-Linked |
|
Cardiomegaly, Dextrotransposition of the great arteries, Atrial septal defect, Atrioventricular c... |
OMIM:306955 |
| W Syndrome |
|
Broad uvula, Submucous cleft hard palate, Agenesis of maxillary central incisor, Upper lip pit |
ORPHA:2804 |
| Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Hepatomegaly, Hypertrophic cardiomyopathy, Cardiomegaly |
OMIM:201475 |
| 1Q41Q42 Microdeletion Syndrome |
|
Submucous cleft hard palate, Thick vermilion border, Cleft palate |
ORPHA:250999 |
| Robin Sequence With Distinctive Facial Appearance And Brachydactyly |
|
Exaggerated median tongue furrow, Tented upper lip vermilion, Exaggerated cupid's bow, Long upper... |
OMIM:608670 |
| Idiopathic Pulmonary Hemosiderosis |
|
Hepatosplenomegaly, Hepatomegaly, Cardiomegaly |
ORPHA:99931 |
| Hsd10 Disease, Infantile Type |
|
Hypertrophic cardiomyopathy, Cardiomegaly |
ORPHA:391428 |
| Cerebrocostomandibular Syndrome |
|
Anal stenosis, Cleft soft palate, Carious teeth, Cleft lip, Pierre-Robin sequence, Cleft palate, ... |
OMIM:117650 |
| Cree Mental Retardation Syndrome |
|
Cleft soft palate |
OMIM:606851 |
| Vertebral Hypersegmentation And Orofacial Anomalies |
|
Unilateral cleft palate, Submucous cleft hard palate, Unilateral cleft lip |
OMIM:619122 |
| Orofaciodigital Syndrome Type 10 |
|
Cleft soft palate, Accessory oral frenulum, Long philtrum |
ORPHA:2756 |
| Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities |
|
Thick lower lip vermilion, Submucous cleft hard palate, Wide mouth, Unilateral cleft lip, Unilate... |
OMIM:619103 |
| Chromosome 6Q24-Q25 Deletion Syndrome |
|
Thin upper lip vermilion, High, narrow palate, Submucous cleft hard palate, Anteriorly placed anu... |
OMIM:612863 |
| Holoprosencephaly 1 |
|
Facial cleft, Median cleft lip and palate |
OMIM:236100 |
| Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Hypertrophic cardiomyopathy, Ventricular septal defect, Cardiomegaly |
OMIM:616897 |
| Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3 |
|
Eclabion, Thin upper lip vermilion, Cleft soft palate, High, narrow palate, Deep philtrum, Cleft ... |
OMIM:619950 |
| Beck-Fahrner Syndrome |
|
Ventricular septal defect, Cardiomegaly |
OMIM:618798 |
| Osteopathia Striata-Cranial Sclerosis Syndrome |
|
Delayed eruption of teeth, High, narrow palate, Submucous cleft hard palate, Cleft palate, Bifid ... |
ORPHA:2780 |
| Stickler Syndrome, Type I |
|
Submucous cleft hard palate, Bifid uvula, Cleft palate, Pierre-Robin sequence |
OMIM:108300 |
| Cirrhotic Cardiomyopathy |
|
Hepatomegaly, Left atrial enlargement, Cardiomegaly, Left ventricular hypertrophy, Right atrial e... |
ORPHA:57777 |
| Danon Disease |
|
Myocardial necrosis, Cardiomegaly, Dilated cardiomyopathy, Myocardial fibrosis, Hypertrophic card... |
OMIM:300257 |
| Familial Aortic Dissection |
|
Cardiomegaly |
ORPHA:229 |
| Complete Atrioventricular Septal Defect |
|
Hepatomegaly, Cardiomegaly, Complete atrioventricular canal defect, Primum atrial septal defect, ... |
ORPHA:1329 |
| Craniofaciofrontodigital Syndrome |
|
Bicuspid aortic valve, Ventricular septal defect, Abnormal heart valve morphology, Cardiomegaly, ... |
ORPHA:363705 |
| Blepharophimosis-Intellectual Disability Syndrome, Verloes Type |
|
Short philtrum, Cleft soft palate, Smooth philtrum |
ORPHA:293725 |
| Short Rib-Polydactyly Syndrome, Verma-Naumoff Type |
|
Cleft upper lip, Esophageal atresia, Facial cleft, Ectopic anus, Long philtrum, Bifid tongue, Ana... |
ORPHA:93271 |
| Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Cardiomegaly |
OMIM:613320 |
| Oligodontia |
|
Orofacial cleft, Oligodontia, Agenesis of mandibular premolar, Widely spaced teeth, Microdontia, ... |
ORPHA:99798 |
| 8Q22.1 Microdeletion Syndrome |
|
Long philtrum, Submucous cleft hard palate, Abnormality of the dentition |
ORPHA:178303 |
| Spondylometaphyseal Dysplasia, Schmidt Type |
|
Cleft soft palate |
ORPHA:93316 |
| Limb-Mammary Syndrome |
|
Cleft hard palate, Cleft lip, Cleft palate, Hypodontia, Submucous cleft soft palate, Bifid uvula |
ORPHA:69085 |
| Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis |
|
Delayed eruption of teeth, Thin upper lip vermilion, Dental crowding, Cleft hard palate, Submucou... |
OMIM:300990 |
| Native American Myopathy |
|
Cleft palate, Downturned corners of mouth, High palate, Submucous cleft soft palate, Bifid uvula |
ORPHA:168572 |
| Pseudo-Torch Syndrome 3 |
|
Cardiomegaly |
OMIM:618886 |
| Naxos Disease |
|
Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Cardiomega... |
OMIM:601214 |
| Marbach-Schaaf Neurodevelopmental Syndrome |
|
Downturned corners of mouth, Thin upper lip vermilion, Submucous cleft hard palate |
OMIM:619680 |
| Branchiogenic-Deafness Syndrome |
|
Submucous cleft hard palate |
OMIM:609166 |
| Double Outlet Right Ventricle |
|
Submucous cleft hard palate, Intestinal malrotation, Cleft palate, Narrow mouth |
ORPHA:3426 |
| Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Splenomegaly, Hepatomegaly, Cardiomyopathy, Cardiomegaly |
ORPHA:465508 |
| Fucosidosis |
|
Hepatomegaly, Cardiomegaly |
ORPHA:349 |
| Rhizomelic Chondrodysplasia Punctata, Type 2 |
|
Submucous cleft hard palate, High palate |
OMIM:222765 |
| Sandhoff Disease |
|
Hepatosplenomegaly, Hepatomegaly, Cardiomegaly |
OMIM:268800 |
| Sacral Agenesis With Vertebral Anomalies |
|
Neonatal death, Anal atresia, Persistent cloaca |
OMIM:615709 |
| Myhre Syndrome |
|
Submucous cleft hard palate, Cleft palate, Gingival cleft, Abnormal lip morphology, Thin vermilio... |
ORPHA:2588 |
| Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
|
Bicuspid aortic valve, Ventricular septal defect, Partial atrioventricular canal defect, Cardiome... |
OMIM:620066 |
| Amyloidosis, Hereditary, Transthyretin-Related |
|
Cardiomyopathy, Cardiomegaly |
OMIM:105210 |
| Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
|
Thin upper lip vermilion, Pyloric stenosis, Submucous cleft hard palate, High palate, Long philtrum |
ORPHA:457279 |
| Walker-Warburg Syndrome |
|
Submucous cleft hard palate, Bifid uvula, Cleft palate |
ORPHA:899 |
| Neurodegeneration With Ataxia And Late-Onset Optic Atrophy |
|
Cardiomyopathy, Cardiomegaly |
OMIM:619259 |
| Mogs-Cdg |
|
Hepatomegaly, Cardiomegaly, Hepatosplenomegaly, Atrial septal defect, Left ventricular hypertrophy |
ORPHA:79330 |
| Cantú Syndrome |
|
Hypertrophic cardiomyopathy, Abnormal heart valve morphology, Cardiomegaly |
ORPHA:1517 |
| Lethal Congenital Contracture Syndrome 10 |
|
Overriding aorta, Ventricular septal defect, Cardiomegaly |
OMIM:617022 |
| Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Cardiomegaly, Pericardial effusion, Increased myocardial glycogen content, Biventricular hypertro... |
OMIM:261740 |
| Treacher Collins Syndrome 1 |
|
Cleft soft palate, Cleft palate, Wide mouth, Abnormal parotid gland morphology, Narrow mouth |
OMIM:154500 |
| Desmosterolosis |
|
Intestinal malrotation, Submucous cleft hard palate, Cleft palate, Narrow mouth, Bifid uvula |
ORPHA:35107 |
| Orofaciodigital Syndrome Type 4 |
|
Median cleft lip, Abnormal oral mucosa morphology, High, narrow palate, Abnormality of the gingiv... |
ORPHA:2753 |
| Sickle Cell Disease |
|
Splenomegaly, Hepatomegaly, Cardiomegaly |
OMIM:603903 |
| Arterial Calcification, Generalized, Of Infancy, 1 |
|
Dilated cardiomyopathy, Cardiomegaly |
OMIM:208000 |
| Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Left ventricular hypertrophy, Hepatomegaly, Hypertrophic cardiomyopathy, Cardiomegaly |
ORPHA:308552 |
| Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1 |
|
Submucous cleft hard palate, Bifid uvula |
OMIM:617660 |
| Cardiofaciocutaneous Syndrome 1 |
|
Abnormality of the dentition, Open bite, Deep philtrum, Submucous cleft hard palate, Dental maloc... |
OMIM:115150 |
| Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome |
|
Submucous cleft hard palate, Cleft palate, Failure of eruption of permanent teeth, Tooth malposit... |
ORPHA:2250 |
| Lethal Acantholytic Erosive Disorder |
|
Cardiomyopathy, Cardiomegaly |
ORPHA:158687 |
| Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Hepatomegaly, Dilated cardiomyopathy, Enlarged kidney, Cardiomegaly |
OMIM:608836 |
| Congenital Disorder Of Glycosylation, Type It |
|
Hepatomegaly, Dilated cardiomyopathy, Ventricular septal defect, Cardiomegaly |
OMIM:614921 |
| Velocardiofacial Syndrome |
|
Velopharyngeal insufficiency, Submucous cleft hard palate, Pierre-Robin sequence, Cleft palate, O... |
OMIM:192430 |
| Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome |
|
Submucous cleft soft palate, Cleft soft palate |
ORPHA:2282 |
| Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects |
|
Esophageal atresia, Submucous cleft hard palate, Tracheoesophageal fistula, Duodenal atresia |
OMIM:619227 |
| Gaucher Disease, Perinatal Lethal |
|
Hepatosplenomegaly, Hepatomegaly, Splenomegaly, Cardiomegaly |
OMIM:608013 |
| Branchioskeletogenital Syndrome |
|
Unilateral cleft palate, Abnormality of the dentition, Carious teeth, Submucous cleft hard palate... |
ORPHA:1299 |
| Neu-Laxova Syndrome |
|
Abnormality of the philtrum, Submucous cleft hard palate, Cleft palate, Thick vermilion border, E... |
ORPHA:2671 |
| Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Bicuspid aortic valve, Cardiomegaly, Mitral valve prolapse, Atrial septal defect, Left ventricula... |
OMIM:245600 |
| Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Hepatomegaly, Ventricular septal defect, Cardiomegaly, Splenomegaly, Hepatosplenomegaly, Mitral v... |
OMIM:602782 |
| Dysferlin-Related Limb-Girdle Muscular Dystrophy R2 |
|
Right ventricular hypertrophy, Cardiomegaly |
ORPHA:268 |
| Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Abnormal myocardium morphology, Hepatomegaly, Cardiomyopathy, Cardiomegaly |
ORPHA:228308 |
| Meier-Gorlin Syndrome 5 |
|
Submucous cleft hard palate, Thick vermilion border, Long philtrum |
OMIM:613805 |
| Truncus Arteriosus |
|
Ventricular septal defect, Abnormal heart valve morphology, Cardiomegaly, Abnormal heart morpholo... |
ORPHA:3384 |
| Neurodegeneration And Seizures Due To Copper Transport Defect |
|
Cardiomegaly |
OMIM:620306 |
| Absence Of The Pulmonary Artery |
|
Cardiomegaly, Abnormal heart morphology, Abnormal cardiac septum morphology, Atrial septal defect... |
ORPHA:980 |
| Hardikar Syndrome |
|
Cleft soft palate, Intestinal malrotation, Celiac disease, Esophageal varix, Bilateral cleft lip ... |
OMIM:301068 |
| Familial Idiopathic Dilatation Of The Right Atrium |
|
Hepatomegaly, Cardiomegaly, Right ventricular hypertrophy, Atrial septal dilatation, Right atrial... |
ORPHA:1677 |
| Congenital Tracheomalacia |
|
Ventricular septal defect, Cardiomegaly, Partial anomalous pulmonary venous return, Abnormal hear... |
ORPHA:95430 |
| Dubowitz Syndrome |
|
Delayed eruption of teeth, Carious teeth, Velopharyngeal insufficiency, Submucous cleft hard pala... |
OMIM:223370 |
| Developmental And Epileptic Encephalopathy 95 |
|
Hepatomegaly, Cardiomegaly |
OMIM:618143 |
| Holoprosencephaly 13, X-Linked |
|
Median cleft lip, Submucous cleft hard palate, Cleft palate, Solitary median maxillary central in... |
OMIM:301043 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Dental crowding, High, narrow palate, Wide mouth, Widely spaced teeth, Short philtrum, Narrow mou... |
OMIM:300967 |
| Glycogen Storage Disease Ii |
|
Splenomegaly, Hepatomegaly, Cardiomegaly |
OMIM:232300 |
| Dubowitz Syndrome |
|
Delayed eruption of teeth, Anal stenosis, Abnormality of the dentition, Malabsorption, Rectal pro... |
ORPHA:235 |
| Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2 |
|
Cleft soft palate |
OMIM:614557 |
| Fucosidosis |
|
Splenomegaly, Hepatomegaly, Cardiomegaly |
OMIM:230000 |
| Ear-Patella-Short Stature Syndrome |
|
High, narrow palate, Submucous cleft hard palate, Cleft palate, Thick vermilion border, Narrow mo... |
ORPHA:2554 |
| Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome |
|
Cardiomegaly |
ORPHA:2463 |
| Diamond-Blackfan Anemia |
|
Cleft lip, High palate, Cleft soft palate, Adenocarcinoma of the colon |
ORPHA:124 |
| Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
|
Pyloric stenosis, Supernumerary tooth, Widely spaced teeth, Cleft soft palate |
ORPHA:268261 |
| Lenz-Majewski Hyperostotic Dwarfism |
|
Abnormal dental enamel morphology, High, narrow palate, Submucous cleft hard palate, Cleft palate... |
ORPHA:2658 |
| Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
|
Downturned corners of mouth, Intestinal malrotation, Cleft soft palate, Smooth philtrum |
OMIM:619321 |
| Neurofacioskeletal Syndrome With Or Without Renal Agenesis |
|
Thin upper lip vermilion, Deep philtrum, Submucous cleft hard palate, Thin lower lip vermilion, W... |
OMIM:619194 |
| Mucopolysaccharidosis Type 3 |
|
Hepatomegaly, Cardiomegaly, Splenomegaly, Abnormal aortic valve morphology, Abnormal mitral valve... |
ORPHA:581 |
| Cardiofaciocutaneous Syndrome |
|
Submucous cleft hard palate, High palate, Long philtrum |
ORPHA:1340 |
| Congenital Total Pulmonary Venous Return Anomaly |
|
Hepatomegaly, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Mitral atresia, Ca... |
ORPHA:99125 |
| Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Delayed eruption of teeth, Thin upper lip vermilion, Dental crowding, Cleft soft palate, Deep phi... |
OMIM:619503 |
| Zttk Syndrome |
|
Abnormality of the dentition, Submucous cleft hard palate, Downturned corners of mouth, Thin verm... |
OMIM:617140 |
| Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Hepatosplenomegaly, Hepatomegaly, Ventricular hypertrophy, Cardiomegaly |
OMIM:618278 |
| Mucolipidosis Ii Alpha/Beta |
|
Hepatomegaly, Cardiomegaly, Splenomegaly, Hypertrophic cardiomyopathy, Enlarged kidney |
OMIM:252500 |
| Alpha-N-Acetylgalactosaminidase Deficiency Type 2 |
|
Cardiomegaly |
ORPHA:79280 |
| Viss Syndrome |
|
Chronic gastritis, Duodenitis, Intestinal malrotation, Cleft soft palate, Submucous cleft soft pa... |
OMIM:619472 |
| Marden-Walker Syndrome |
|
Pyloric stenosis, Submucous cleft hard palate, Cleft palate, Narrow mouth, Bifid uvula |
ORPHA:2461 |
| Paternal Uniparental Disomy Of Chromosome 6 |
|
Hepatomegaly, Ventricular septal defect, Cardiomegaly |
ORPHA:96191 |
| Ogden Syndrome |
|
Bicuspid aortic valve, Left atrial enlargement, Ventricular septal defect, Cardiomegaly, Secundum... |
OMIM:300855 |
| Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
Bicuspid aortic valve, Cardiomegaly |
ORPHA:91387 |
| Histiocytoid Cardiomyopathy |
|
Hepatomegaly, Ventricular septal defect, Cardiomegaly |
ORPHA:137675 |
| Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Left ventricular hypertrophy, Hepatomegaly, Hypertrophic cardiomyopathy, Cardiomegaly |
ORPHA:365 |
| Beckwith-Wiedemann Syndrome |
|
Hepatomegaly, Cardiomegaly, Pancreatic hyperplasia, Cardiomyopathy, Enlarged kidney |
OMIM:130650 |
| Bohring-Opitz Syndrome |
|
Abnormal cardiac septum morphology, Cardiomegaly |
ORPHA:97297 |
| Restrictive Dermopathy 1 |
|
Natal tooth, Submucous cleft hard palate, Stillbirth, Narrow mouth, Neonatal death |
OMIM:275210 |
| Abetalipoproteinemia |
|
Hepatomegaly, Cardiomegaly |
ORPHA:14 |
| Campomelic Dysplasia |
|
Irregular dentition, Carious teeth, Submucous cleft hard palate, Cleft palate, High palate, Narro... |
OMIM:114290 |
| Tropical Endomyocardial Fibrosis |
|
Hepatomegaly, Right ventricular cardiomyopathy, Left atrial enlargement, Cardiomegaly, Splenomega... |
ORPHA:75565 |
| Tolchin-Le Caignec Syndrome |
|
Submucous cleft hard palate, High palate, Narrow mouth |
OMIM:618971 |
| Microphthalmia, Syndromic 2 |
|
Delayed eruption of teeth, Persistence of primary teeth, Supernumerary tooth, Submucous cleft har... |
OMIM:300166 |
| Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Cleft palate, Downturned corners of mouth, Thin vermilion border, Short philtrum, Submucous cleft... |
ORPHA:500150 |
| Microcephaly, Developmental Delay, And Brittle Hair Syndrome |
|
Submucous cleft hard palate |
OMIM:618891 |
| Mowat-Wilson Syndrome |
|
Delayed eruption of teeth, Aganglionic megacolon, Dental crowding, Abnormal dental morphology, Cl... |
ORPHA:2152 |
| Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Delayed eruption of teeth, Aganglionic megacolon, Dental crowding, Abnormal dental morphology, Cl... |
ORPHA:261537 |
| Aicardi-Goutières Syndrome |
|
Hepatosplenomegaly, Hypertrophic cardiomyopathy, Cardiomegaly |
ORPHA:51 |
| Wiedemann-Rautenstrauch Syndrome |
|
Natal tooth, Thin upper lip vermilion, Abnormality of the dentition, Downturned corners of mouth,... |
ORPHA:3455 |
| Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Delayed eruption of teeth, Aganglionic megacolon, Dental crowding, Abnormal dental morphology, Cl... |
ORPHA:261552 |
| Holoprosencephaly 2 |
|
Submucous cleft hard palate, Bilateral cleft lip and palate, Solitary median maxillary central in... |
OMIM:157170 |
| Neuroocular Syndrome |
|
Short uvula, Submucous cleft hard palate, Downturned corners of mouth, Widely spaced teeth, Torus... |
OMIM:619539 |
| Liver Disease, Severe Congenital |
|
Hepatomegaly, Ventricular septal defect, Left atrial enlargement, Cardiomegaly, Splenomegaly, Dil... |
OMIM:619991 |
| Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii |
|
Submucous cleft hard palate, Thick vermilion border, Bifid uvula, Cleft palate |
ORPHA:2636 |
| Yunis-Varon Syndrome |
|
Ventricular septal defect, Cardiomegaly, Cardiomyopathy, Atrial septal defect, Tetralogy of Fallot |
ORPHA:3472 |
| Beckwith-Wiedemann Syndrome |
|
Hepatomegaly, Cardiomegaly, Splenomegaly, Hypertrophic cardiomyopathy, Visceromegaly, Enlarged ki... |
ORPHA:116 |
| Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type |
|
Neoplasm of the tongue, Submucous cleft hard palate, Bifid uvula |
ORPHA:3047 |
| Chromosome 1P36 Deletion Syndrome, Distal |
|
Cleft upper lip, Submucous cleft hard palate, Orofacial cleft, High palate, Long philtrum, Bifid ... |
OMIM:607872 |
| Williams Syndrome |
|
Abnormal endocardium morphology, Overriding aorta, Bicuspid aortic valve, Ventricular septal defe... |
ORPHA:904 |
| Coffin-Siris Syndrome 12 |
|
Celiac disease, Velopharyngeal insufficiency, Submucous cleft hard palate, High palate |
OMIM:619325 |
| Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Splenomegaly, Hepatomegaly, Cardiomegaly |
OMIM:256040 |
| Mowat-Wilson Syndrome |
|
Delayed eruption of teeth, Aganglionic megacolon, Pyloric stenosis, Submucous cleft hard palate, ... |
OMIM:235730 |
| Restrictive Dermopathy |
|
Natal tooth, Submucous cleft hard palate, Microcolon, Narrow mouth |
ORPHA:1662 |
| Singleton-Merten Syndrome 1 |
|
Mitral valve calcification, Cardiomegaly, Aortic valve calcification, Subvalvular aortic stenosis... |
OMIM:182250 |
| Generalized Arterial Calcification Of Infancy |
|
Pericardial effusion, Ventricular hypertrophy, Myocardial calcification, Cardiomegaly |
ORPHA:51608 |
| Craniofacial Microsomia 1 |
|
Transverse facial cleft, Wide mouth, Cleft palate, Cleft upper lip |
OMIM:164210 |
