Idiopathic/Heritable Pulmonary Arterial Hypertension |
|
Tricuspid regurgitation, Palpitations, Heart murmur, Syncope, Abnormal cardiovascular system phys... |
ORPHA:422 |
Coronary Arterial Fistula |
|
Angina pectoris, Systolic heart murmur, Pedal edema, Cardiomegaly, Abnormal heart morphology, Pal... |
ORPHA:2041 |
Familial Dilated Cardiomyopathy |
|
Left bundle branch block, Mitral regurgitation, Palpitations, Left ventricular hypertrophy, Eleva... |
ORPHA:217607 |
Peripartum Cardiomyopathy |
|
Myocarditis, Heart murmur, Reduced left ventricular ejection fraction, Pedal edema, Hypertension,... |
ORPHA:563 |
Atrial Fibrillation, Familial, 10 |
|
Permanent atrial fibrillation, Tricuspid regurgitation, Left ventricular hypertrophy, Atrial flut... |
OMIM:614022 |
Atrial Septal Defect, Sinus Venosus Type |
|
Supraventricular arrhythmia, Supraventricular tachycardia, Premature atrial contractions, Atrial ... |
ORPHA:99105 |
Chromosome 6Q24-Q25 Deletion Syndrome |
|
High palate, Persistent fetal circulation, Atrial septal defect, High, narrow palate, Tricuspid r... |
OMIM:612863 |
Cardiomyopathy, Familial Restrictive, 6 |
|
Tricuspid regurgitation, Pulmonic stenosis, Pulmonary insufficiency, Restrictive cardiomyopathy, ... |
OMIM:619433 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14 |
|
Left bundle branch block, Premature ventricular contraction, Presyncope, Palpitations, Ventricula... |
OMIM:618920 |
Infantile Sialic Acid Storage Disease |
|
High palate, Gingival overgrowth, Death in childhood, Hydrops fetalis, Anteverted nares, Ascites,... |
OMIM:269920 |
Fetal Gaucher Disease |
|
High palate, Flexion contracture, Depressed nasal bridge, Intracranial hemorrhage, Hydrops fetali... |
ORPHA:85212 |
Indomethacin Embryofetopathy |
|
Atrial septal defect, Hydrops fetalis, Premature birth, Ventricular septal defect, Oligohydramnio... |
ORPHA:1909 |
Pai Syndrome |
|
Cleft palate, Depressed nasal bridge, Bifid uvula, Abnormal oral frenulum morphology, Median clef... |
ORPHA:1993 |
Lymphedema, Cardiac Septal Defects, And Characteristic Facies |
|
Atrial septal defect, Broad nasal tip, Depressed nasal bridge, Hydrops fetalis, Oligohydramnios, ... |
OMIM:601927 |
Congenital Disorder Of Glycosylation, Type Ik |
|
Flexion contracture, Thin vermilion border, Nonimmune hydrops fetalis, Death in infancy, Abnormal... |
OMIM:608540 |
Cleft, Median, Of Upper Lip With Polyps Of Facial Skin And Nasal Mucosa |
|
High palate, Bifid uvula, Nasal polyposis, Median cleft lip |
OMIM:155145 |
Mulibrey Nanism |
|
Myocardial fibrosis, Dental malocclusion, Hypodontia, Depressed nasal bridge, Pericardial constri... |
OMIM:253250 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5 |
|
Muscle fiber necrosis, Increased endomysial connective tissue, Flexion contracture, Right ventric... |
OMIM:253700 |
Nuchal Bleb, Familial |
|
Hydrops fetalis, Stillbirth, Fetal cystic hygroma |
OMIM:257350 |
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant |
|
Flexion contracture, Hydrops fetalis, Dilated cardiomyopathy, Death in infancy, Hypertrophic card... |
OMIM:618815 |
Fetal Parvovirus Syndrome |
|
Increased nuchal translucency, Hypertrophic cardiomyopathy, Hydrops fetalis, Ascites |
ORPHA:295 |
Cardiomyopathy, Familial Hypertrophic 27 |
|
Cardiac arrest, Tricuspid regurgitation, Concentric hypertrophic cardiomyopathy, Right ventricula... |
OMIM:618052 |
Atrial Septal Defect, Ostium Primum Type |
|
Systolic heart murmur, Right bundle branch block, Atrioventricular block, Palpitations, Syncope, ... |
ORPHA:99106 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13 |
|
Left bundle branch block, Ventricular tachycardia, Right ventricular dilatation, First degree atr... |
OMIM:615616 |
Transaldolase Deficiency |
|
Atrial septal defect, Hydrops fetalis, Coarctation of aorta, Biventricular hypertrophy, Edema, Te... |
ORPHA:101028 |
Umbilical Cord Ulceration-Intestinal Atresia Syndrome |
|
Duodenal atresia, Intestinal atresia, Single umbilical artery, Hydrops fetalis, Ventricular septa... |
ORPHA:3405 |
Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphism |
|
Anteverted nares, Polyhydramnios, Hydrops fetalis, Nonimmune hydrops fetalis |
OMIM:613124 |
Ciliary Dyskinesia, Primary, 30 |
|
Situs inversus totalis, Dextrocardia, Nasal congestion, Absent outer dynein arms, Nasal polyposis |
OMIM:616037 |
Hydrops Fetalis |
|
Miscarriage, Arrhythmia, Nonimmune hydrops fetalis, Polyhydramnios, Twin-to-twin transfusion, Lym... |
ORPHA:1041 |
Idiopathic Neonatal Atrial Flutter |
|
Supraventricular tachycardia, Abnormal left ventricular function, Hydrops fetalis, Arrhythmia, Ab... |
ORPHA:45452 |
Atrial Septal Defect, Ostium Secundum Type |
|
Supraventricular arrhythmia, Abnormal mitral valve morphology, Systolic heart murmur, Pedal edema... |
ORPHA:99103 |
Ciliary Dyskinesia, Primary, 35 |
|
Chronic rhinitis, Nasal polyposis, Situs inversus totalis |
OMIM:617092 |
Hydrops Fetalis, Nonimmune |
|
Hydrops fetalis, Nonimmune hydrops fetalis, Congestive heart failure |
OMIM:236750 |
Glycogen Storage Disease Iv |
|
Hydrops fetalis, Polyhydramnios, Esophageal varix, Portal hypertension, Edema, Arthrogryposis mul... |
OMIM:232500 |
Lipoid Proteinosis |
|
High palate, Abnormality of the gingiva, Abnormal oral mucosa morphology, Tongue nodules, Microgl... |
ORPHA:530 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Cleft palate, Flexion contracture, Hydrops fetalis, Cardiomegaly, Ventricular septal defect, Poly... |
OMIM:616897 |
Ciliary Dyskinesia, Primary, 22 |
|
Recurrent sinusitis, Situs inversus totalis, Dextrocardia, Rhinitis, Absent inner and outer dynei... |
OMIM:615444 |
Ciliary Dyskinesia, Primary, 2 |
|
Situs inversus totalis, Dextrocardia, Absent inner and outer dynein arms, Nasal polyposis |
OMIM:606763 |
Mitochondrial Complex I Deficiency, Nuclear Type 35 |
|
Neonatal death, Pulmonary arterial hypertension, Nonimmune hydrops fetalis, Cardiomyopathy |
OMIM:619003 |
Ciliary Dyskinesia, Primary, 19 |
|
Recurrent sinusitis, Situs inversus totalis, Rhinitis, Absent inner and outer dynein arms, Nasal ... |
OMIM:614935 |
Eosinophilic Granulomatosis With Polyangiitis |
|
Malabsorption, Abnormal pericardium morphology, Recurrent intrapulmonary hemorrhage, Endocarditis... |
ORPHA:183 |
Congenital Pulmonary Lymphangiectasia |
|
Chylopericardium, Tricuspid regurgitation, Pulmonic stenosis, Hydrops fetalis, Pleural effusion, ... |
ORPHA:2414 |
Atrial Septal Defect, Coronary Sinus Type |
|
Supraventricular arrhythmia, Bundle branch block, Unroofed coronary sinus, Anomalous pulmonary ve... |
ORPHA:99104 |
Lymphatic Malformation 12 |
|
Recurrent upper and lower respiratory tract infections, Fetal pericardial effusion, Nonimmune hyd... |
OMIM:620014 |
Klippel-Trénaunay Syndrome |
|
Atrial septal defect, Hydrops fetalis, Pulmonary embolism, Abnormality of the pulmonary artery, I... |
ORPHA:90308 |
Primary Ciliary Dyskinesia |
|
Double outlet right ventricle, Anomalous pulmonary venous return, Intestinal malrotation, Ectopic... |
ORPHA:244 |
Minicore Myopathy With External Ophthalmoplegia |
|
High palate, Nemaline bodies, Muscular dystrophy, Hydrops fetalis, Increased variability in muscl... |
OMIM:255320 |
Achondrogenesis |
|
Thickened nuchal skin fold, Hydrops fetalis, Long philtrum, Polyhydramnios, Short nose, Anteverte... |
ORPHA:932 |
Immunodeficiency 93 And Hypertrophic Cardiomyopathy |
|
Wolff-Parkinson-White syndrome, Hypertrophic cardiomyopathy, Tricuspid regurgitation, Right ventr... |
OMIM:619705 |
Alg9-Cdg |
|
Wide mouth, Depressed nasal bridge, Ventricular septal defect, Short nose, Abnormal heart morphol... |
ORPHA:79328 |
Lymphatic Malformation 8 |
|
Nonimmune hydrops fetalis, Polyhydramnios, Pleural effusion, Generalized edema, Stillbirth, Peric... |
OMIM:618773 |
Lethal Congenital Contracture Syndrome 10 |
|
High palate, Torticollis, Narrow palate, Oligohydramnios, Hydrops fetalis, Long philtrum, Ventric... |
OMIM:617022 |
Ciliary Dyskinesia, Primary, 5 |
|
Chronic rhinitis, Situs inversus totalis, Nasal polyposis, Recurrent sinusitis |
OMIM:608647 |
Peutz-Jeghers Syndrome |
|
Neoplasm of the rectum, Neoplasm of the colon, Esophageal neoplasm, Stomach cancer, Abnormality o... |
ORPHA:2869 |
Achondrogenesis Type 1B |
|
Thickened nuchal skin fold, Hydrops fetalis, Long philtrum, Polyhydramnios, Short nose, Anteverte... |
ORPHA:93298 |
Ciliary Dyskinesia, Primary, 15 |
|
Situs inversus totalis, Abnormal axonemal organization of respiratory motile cilia, Nasal polyposis |
OMIM:613808 |
Achondrogenesis Type 1A |
|
Thickened nuchal skin fold, Hydrops fetalis, Long philtrum, Polyhydramnios, Short nose, Anteverte... |
ORPHA:93299 |
Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome |
|
Limb-girdle muscular dystrophy, Right ventricular dilatation, Myopathy |
ORPHA:369847 |
Trisomy 1Q |
|
Anal atresia, Narrow mouth, Congenital diaphragmatic hernia, Cleft palate, Depressed nasal bridge... |
ORPHA:261344 |
Asthma, Nasal Polyps, And Aspirin Intolerance |
|
Nasal polyposis |
OMIM:208550 |
Long Qt Syndrome 3 |
|
Torsade de pointes, Ventricular flutter, Sudden cardiac death, Hydrops fetalis, Nonimmune hydrops... |
OMIM:603830 |
Ciliary Dyskinesia With Excessively Long Cilia |
|
Chronic rhinitis, Recurrent bronchitis, Abnormal respiratory motile cilium morphology, Nasal poly... |
OMIM:242680 |
Hb Bart'S Hydrops Fetalis |
|
Hydrops fetalis, Preeclampsia, Polyhydramnios, Pericarditis, Oligohydramnios, Congestive heart fa... |
ORPHA:163596 |
Gm1-Gangliosidosis, Type I |
|
Gingival overgrowth, Depressed nasal ridge, Hydrops fetalis, Dilated cardiomyopathy, Death in inf... |
OMIM:230500 |
Neuraminidase Deficiency |
|
Facial edema, Hydrops fetalis, Ascites, Bone-marrow foam cells, Skeletal muscle atrophy, Cardiomy... |
OMIM:256550 |
Burn-Mckeown Syndrome |
|
Cleft upper lip, Narrow mouth, Atrial septal defect, Cleft palate, Thin vermilion border, Short p... |
OMIM:608572 |
Intellectual Developmental Disorder, Autosomal Recessive 44 |
|
Thin vermilion border, Depressed nasal bridge, Long philtrum, Bifid uvula, Anteverted nares |
OMIM:615942 |
Achondrogenesis, Type Ib |
|
Hydrops fetalis, Polyhydramnios, Edema, Stillbirth, Breech presentation |
OMIM:600972 |
Developmental And Epileptic Encephalopathy 96 |
|
Hydrops fetalis, Death in infancy |
OMIM:619340 |
Ulnar Agenesis And Endocardial Fibroelastosis |
|
Hydrops fetalis, Neonatal death, Endocardial fibroelastosis |
OMIM:276822 |
Chondrodysplasia, Blomstrand Type |
|
Polyhydramnios, Hydrops fetalis, Stillbirth, Premature birth |
OMIM:215045 |
Arthrogryposis, Distal, Type 1C |
|
High palate, Hip contracture, Narrow mouth, Pursed lips, Cleft palate, Thin vermilion border, Cam... |
OMIM:619110 |
Chronic Thromboembolic Pulmonary Hypertension |
|
Cardiac shunt, Abnormal left ventricular function, Right atrial enlargement, Abnormal T-wave, Rig... |
ORPHA:70591 |
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
|
Abnormal muscle glycogen content, Flexion contracture, Nonimmune hydrops fetalis, Polyhydramnios,... |
ORPHA:367 |
Double Outlet Right Ventricle |
|
Double outlet right ventricle, Narrow mouth, Hypoplastic left heart, Cleft palate, Intestinal mal... |
ORPHA:3426 |
Ciliary Dyskinesia, Primary, 42 |
|
Chronic rhinitis, Nasal polyposis, Recurrent sinusitis |
OMIM:618695 |
Ciliary Dyskinesia With Defective Radial Spokes |
|
Chronic rhinitis, Nasal polyposis, Absent respiratory ciliary axoneme radial spokes |
OMIM:242670 |
Anencephaly 2 |
|
Median cleft palate, Bifid nose, Median cleft lip, Cleft of alveolar ridge of maxilla |
OMIM:619452 |
Achondrogenesis, Type Ii |
|
Cleft palate, Hydrops fetalis, Polyhydramnios, Edema, Stillbirth |
OMIM:200610 |
Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Narrow mouth, Miscarriage, Cleft palate, Flexion contracture, Hydrops fetalis, Increased placenta... |
ORPHA:1865 |
Ciliary Dyskinesia, Primary, 1 |
|
Nasal polyposis, Chronic rhinitis, Situs inversus totalis, Recurrent bronchitis, Absent outer dyn... |
OMIM:244400 |
Fibrochondrogenesis 1 |
|
Narrow mouth, Joint contracture of the hand, Cleft palate, Depressed nasal bridge, Hydrops fetali... |
OMIM:228520 |
Immunodeficiency 13 |
|
Recurrent sinusitis, Recurrent upper respiratory tract infections, Nasal polyposis |
OMIM:615518 |
Bare Lymphocyte Syndrome, Type I |
|
Recurrent bronchitis, Nasal polyposis |
OMIM:604571 |
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Cleft palate, Atrioventricular canal defect, Tracheoesophageal fistula, Nonimmune hydrops fetalis... |
OMIM:265380 |
Gaucher Disease, Perinatal Lethal |
|
Narrow mouth, Everted lower lip vermilion, Depressed nasal bridge, Nonimmune hydrops fetalis, Neo... |
OMIM:608013 |
Oculofaciocardiodental Syndrome |
|
Abnormal cardiac septum morphology, Peripheral pulmonary artery stenosis, Tooth malposition, Clef... |
ORPHA:2712 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type |
|
Cleft upper lip, Bulbous nose, Cleft palate, Dysplastic pulmonary valve, Bifid uvula, Anteverted ... |
OMIM:300958 |
Temple Syndrome |
|
High palate, Cleft palate, Flexion contracture, Depressed nasal bridge, Short philtrum, Bifid uvu... |
OMIM:616222 |
Trisomy 13 |
|
Atrial septal defect, High, narrow palate, Cleft palate, Abnormality of the dentition, Hydrops fe... |
ORPHA:3378 |
Gm1 Gangliosidosis |
|
Abnormal heart morphology, Narrow mouth, Gingival overgrowth, Depressed nasal ridge, Macroglossia... |
ORPHA:354 |
Mitochondrial Trifunctional Protein Deficiency |
|
Hydrops fetalis, Arrhythmia, Prenatal maternal abnormality, Rhabdomyolysis, Dilated cardiomyopath... |
OMIM:609015 |
Combined Oxidative Phosphorylation Deficiency 42 |
|
Nonimmune hydrops fetalis, Neonatal death, Cardiomyopathy, Death in infancy, Premature birth |
OMIM:618839 |
Sialidosis Type 2 |
|
Flexion contracture, Hydrops fetalis, Pedal edema, Ascites, Skeletal muscle atrophy |
ORPHA:87876 |
Combined Oxidative Phosphorylation Deficiency 40 |
|
Nonimmune hydrops fetalis, Neonatal death, Death in infancy, Hypertrophic cardiomyopathy, Prematu... |
OMIM:618835 |
Congenital Enterovirus Infection |
|
Hydrops fetalis, Premature birth, Hypotension, Myocarditis, Polyhydramnios, Cardiomyopathy, Pleur... |
ORPHA:292 |
Mosaic Trisomy 9 |
|
High palate, Bulbous nose, Atrial septal defect, Cleft palate, Intestinal malrotation, Camptodact... |
ORPHA:99776 |
Platyspondylic Dysplasia, Torrance Type |
|
Polyhydramnios, Depressed nasal bridge, Hydrops fetalis, Cleft palate |
ORPHA:85166 |
Lymphatic Malformation 7 |
|
Facial edema, Pulmonary edema, Atrial septal defect, Nonimmune hydrops fetalis, Lymphedema, Edema... |
OMIM:617300 |
Dysplastic Cortical Hyperostosis |
|
Polyhydramnios, Hydrops fetalis |
ORPHA:2204 |
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome |
|
Predominantly lower limb lymphedema, Palmar telangiectasia, Palpebral edema, Hydrops fetalis, Pla... |
ORPHA:69735 |
Achondrogenesis, Type Ia |
|
Depressed nasal bridge, Hypoplastic nasal bridge, Hydrops fetalis, Absence of stomach bubble on f... |
OMIM:200600 |
Cardiocranial Syndrome, Pfeiffer Type |
|
Torticollis, High, narrow palate, Bifid uvula, Small hypothenar eminence, Plantar flexion contrac... |
ORPHA:2872 |
Peutz-Jeghers Syndrome |
|
Intestinal bleeding, Multiple gastric polyps, Intussusception, Labial melanotic macule, Rectal pr... |
OMIM:175200 |
Mycophenolate Mofetil Embryopathy |
|
Congenital diaphragmatic hernia, Tracheoesophageal fistula, Hydrops fetalis, Coarctation of aorta... |
ORPHA:268249 |
Cardiac Valvular Dysplasia 1 |
|
Mitral stenosis, Tricuspid atresia, Tricuspid valve prolapse, Tricuspid regurgitation, Hydrops fe... |
OMIM:212093 |
Neurodevelopmental Disorder With Or Without Autism Or Seizures |
|
Pulmonic stenosis, Atrial septal defect, Bifid uvula, Submucous cleft hard palate |
OMIM:619239 |
Capillary Malformation-Arteriovenous Malformation |
|
Abnormal heart morphology, High-output congestive heart failure, Chylothorax, Abnormality of the ... |
ORPHA:137667 |
Viss Syndrome |
|
High palate, Chronic gastritis, Depressed nasal bridge, Aortic tortuosity, Pulmonary artery aneur... |
OMIM:619472 |
Zimmermann-Laband Syndrome 3 |
|
High palate, Gingival overgrowth, Flexion contracture, Broad nasal tip, Bifid uvula, Wide nasal b... |
OMIM:618658 |
Benign Schwannoma |
|
Abnormal esophagus morphology, Intestinal polyposis, Facial palsy, Abnormal parotid gland morphol... |
ORPHA:252164 |
Growth Retardation, Developmental Delay, And Facial Dysmorphism |
|
Alveolar ridge overgrowth, Cleft palate, Thin vermilion border, Death in childhood, Bifid uvula, ... |
OMIM:612938 |
Boomerang Dysplasia |
|
Polyhydramnios, Aplasia/Hypoplasia of the abdominal wall musculature, Hydrops fetalis |
ORPHA:1263 |
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome |
|
Facial telangiectasia in butterfly midface distribution, Long nose, Palpebral edema, Nonimmune hy... |
OMIM:137940 |
Short-Rib Thoracic Dysplasia 14 With Polydactyly |
|
Atrial septal defect, Congenital diaphragmatic hernia, Cleft palate, Depressed nasal bridge, Hydr... |
OMIM:616546 |
Diffuse Neonatal Hemangiomatosis |
|
Polyhydramnios, Hydrops fetalis, Premature birth, Ascites |
ORPHA:2123 |
Omphalocele-Cleft Palate Syndrome, Lethal |
|
Bifid uvula, Cleft palate, Death in infancy |
OMIM:258320 |
Mgat2-Cdg |
|
Recurrent upper and lower respiratory tract infections, Convex nasal ridge, Low hanging columella... |
ORPHA:79329 |
Schneckenbecken Dysplasia |
|
Cleft palate, Nonimmune hydrops fetalis, Polyhydramnios, Short nose, Stillbirth |
OMIM:269250 |
Combined Oxidative Phosphorylation Defect Type 27 |
|
Ragged-red muscle fibers, Nonimmune hydrops fetalis |
ORPHA:477774 |
Hypotrichosis-Lymphedema-Telangiectasia Syndrome |
|
Predominantly lower limb lymphedema, Abnormality of the dentition, Palmar telangiectasia, Palpebr... |
OMIM:607823 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 |
|
High palate, Triangular mouth, Depressed nasal bridge, Microdontia, Flexion contracture, Hydrops ... |
OMIM:300868 |
Stickler Syndrome, Type Ii |
|
High, narrow palate, Cleft palate, Depressed nasal bridge, Bifid uvula, Anteverted nares, Pierre-... |
OMIM:604841 |
Diamond-Blackfan Anemia 6 |
|
Cleft upper lip, Atrial septal defect, Cleft palate, Mitral regurgitation, Bifid uvula, Tetralogy... |
OMIM:612561 |
Mucopolysaccharidosis, Type Vii |
|
Gingival overgrowth, Macroglossia, Flexion contracture, Recurrent upper respiratory tract infecti... |
OMIM:253220 |
Coffin-Siris Syndrome 11 |
|
High palate, Wide mouth, Bulbous nose, Depressed nasal bridge, Bifid uvula, Downturned corners of... |
OMIM:618779 |
Lymphangiectasia, Pulmonary, Congenital |
|
Facial edema, Chylothorax, Depressed nasal bridge, Chylous ascites, Palpebral edema, Nonimmune hy... |
OMIM:265300 |
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence |
|
Premature ventricular contraction, Tachycardia, Syncope, Pierre-Robin sequence, Posteriorly place... |
OMIM:192445 |
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
|
Cleft palate, Intestinal malrotation, Depressed nasal bridge, Abnormal nasal morphology, Long phi... |
ORPHA:404440 |
Gm1 Gangliosidosis Type 1 |
|
Gingival overgrowth, Macroglossia, Broad nasal tip, Depressed nasal bridge, Hydrops fetalis, Long... |
ORPHA:79255 |
Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome |
|
Maternal hypertension, Bifid uvula |
ORPHA:2669 |
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
High palate, Cleft palate, Short uvula, Agenesis of permanent teeth, Hydrops fetalis, Microdontia... |
OMIM:614091 |
Autosomal Recessive Centronuclear Myopathy |
|
High palate, Facial diplegia, Narrow mouth, Hip contracture, Left ventricular hypertrophy, Facial... |
ORPHA:169186 |
S-Adenosylhomocysteine Hydrolase Deficiency |
|
Abnormality of the dentition, Muscular dystrophy, Hydrops fetalis, Cardiomyopathy |
ORPHA:88618 |
Hennekam Syndrome |
|
Malabsorption, Tooth agenesis, Gingival overgrowth, Narrow mouth, Supernumerary tooth, Chylothora... |
ORPHA:2136 |
Orofacial Cleft 13 |
|
Oligodontia, Cleft soft palate |
OMIM:613857 |
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2 |
|
Hydrops fetalis, Cleft palate |
OMIM:616738 |
Campomelia, Cumming Type |
|
Cleft palate, Hydrops fetalis, Lymphedema, Death in infancy, Abnormal intestine morphology, Oligo... |
ORPHA:1318 |
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome |
|
High, narrow palate, Hypodontia, Abnormality of the sense of smell, Glossoptosis, Camptodactyly o... |
ORPHA:3201 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Right atrial enlargement, Restrictive cardiomyopathy, Nonimmune hydrops fetalis, Endocardial fibr... |
OMIM:619313 |
Orofaciodigital Syndrome Type 5 |
|
Accessory oral frenulum, Absent cupid's bow, Hypodontia, High, narrow palate, Supernumerary tooth... |
ORPHA:2919 |
Osteopathia Striata-Cranial Sclerosis Syndrome |
|
Aortic valve stenosis, High, narrow palate, Cleft palate, Delayed eruption of teeth, Bifid uvula,... |
ORPHA:2780 |
Neurodevelopmental Disorder With Microcephaly, Arthrogryposis, And Structural Brain Anomalies |
|
Bulbous nose, Thin vermilion border, Depressed nasal bridge, Short philtrum, Bifid uvula, Deep ph... |
OMIM:618622 |
Hypomandibular Faciocranial Dysostosis |
|
Narrow mouth, Atrial septal defect, Aplasia/Hypoplasia of the tongue, Cleft palate, Bifid uvula, ... |
ORPHA:1790 |
Loeys-Dietz Syndrome 5 |
|
High palate, Hiatus hernia, Atrial septal defect, Cleft palate, Eosinophilic infiltration of the ... |
OMIM:615582 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Flexion contracture, Steatorrhea, Depressed nasal bridge, Death in childhood, Nonimmune hydrops f... |
OMIM:212065 |
Alg8-Cdg |
|
Macroglossia, Oligohydramnios, Hydrops fetalis, Camptodactyly, Edema, Ascites, Premature birth |
ORPHA:79325 |
Cystic Fibrosis |
|
Ileus, Steatorrhea, Meconium ileus, Cor pulmonale, Dehydration, Rectal prolapse, Nasal polyposis |
OMIM:219700 |
Velocardiofacial Syndrome |
|
Bulbous nose, Velopharyngeal insufficiency, Cleft palate, Double aortic arch, Tetralogy of Fallot... |
OMIM:192430 |
Free Sialic Acid Storage Disease |
|
Aplasia/Hypoplasia of the abdominal wall musculature, Hydrops fetalis, Ascites |
ORPHA:834 |
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14 |
|
High palate, Narrow mouth, Cleft palate, Depressed nasal bridge, Short philtrum, Bifid uvula, Pyl... |
ORPHA:96184 |
Emanuel Syndrome |
|
High palate, Multiple joint contractures, Cleft palate, Delayed eruption of teeth, Ventricular se... |
ORPHA:96170 |
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities |
|
Wide mouth, Bulbous nose, Dysplastic pulmonary valve, Depressed nasal bridge, Ventricular septal ... |
OMIM:619103 |
Intellectual Developmental Disorder, X-Linked 90 |
|
High palate, Bifid uvula |
OMIM:300850 |
Lymphatic Malformation 6 |
|
Facial edema, Atrial septal defect, Genital edema, Chylothorax, Nonimmune hydrops fetalis, Polyhy... |
OMIM:616843 |
Cranioectodermal Dysplasia 2 |
|
High palate, Atrial septal defect, Cleft palate, Everted lower lip vermilion, Depressed nasal bri... |
OMIM:613610 |
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Atrial septal defect, Tricuspid regurgitation, Cleft palate, Intestinal malrotation, Hydrops feta... |
OMIM:263520 |
Uvula, Bifid |
|
Bifid uvula |
OMIM:192100 |
Cleft Soft Palate |
|
Cleft soft palate |
OMIM:119570 |
Blomstrand Lethal Chondrodysplasia |
|
Depressed nasal bridge, Hydrops fetalis, Long philtrum, Coarctation of aorta, Polyhydramnios, Sho... |
ORPHA:50945 |
Osteogenesis Imperfecta, Type Ii |
|
Convex nasal ridge, Pulmonary insufficiency, Nonimmune hydrops fetalis, Premature birth, Congesti... |
OMIM:166210 |
Mucopolysaccharidosis, Type Ix |
|
Depressed nasal bridge, Bifid uvula, Submucous cleft hard palate |
OMIM:601492 |
Cleft Palate, Deafness, And Oligodontia |
|
No permanent dentition, Oligodontia of primary teeth, Cleft soft palate |
OMIM:216300 |
Combined Oxidative Phosphorylation Deficiency 41 |
|
Nonimmune hydrops fetalis, Premature birth, Cardiomegaly |
OMIM:618838 |
Cleft Velum |
|
Velopharyngeal insufficiency, Cleft soft palate |
ORPHA:99772 |
Spastic Paraplegia 81, Autosomal Recessive |
|
Bifid uvula, Cleft palate |
OMIM:618768 |
Multiple Epiphyseal Dysplasia, Lowry Type |
|
Broad nasal tip, Cleft hard palate, Knee flexion contracture |
ORPHA:166016 |
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects |
|
Velopharyngeal insufficiency, Cleft palate, Thin vermilion border, Intestinal malrotation, Long p... |
OMIM:614701 |
Auriculocondylar Syndrome 3 |
|
Glossoptosis, Bifid uvula |
OMIM:615706 |
Satb2-Associated Syndrome Due To A Pathogenic Variant |
|
High palate, Cleft palate, Abnormality of the dentition, Long philtrum, Bifid uvula, Thin upper l... |
ORPHA:576283 |
Brachycephaly, Trichomegaly, And Developmental Delay |
|
High palate, Supernumerary tooth, Thin vermilion border, Depressed nasal bridge, Bifid uvula, Sub... |
OMIM:617412 |
1Q41Q42 Microdeletion Syndrome |
|
Congenital diaphragmatic hernia, Cleft palate, Broad nasal tip, Depressed nasal bridge, Thick ver... |
ORPHA:250999 |
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
|
High palate, Abnormal heart morphology, Bicuspid aortic valve, Contracture of the proximal interp... |
ORPHA:457279 |
Nephrosis With Deafness And Urinary Tract And Digital Malformations |
|
Bifid uvula |
OMIM:256200 |
Congenital Disorder Of Glycosylation, Type Id |
|
High palate, Bulbous nose, Joint contracture of the hand, Flexion contracture, Depressed nasal br... |
OMIM:601110 |
Chromosome 18Q Deletion Syndrome |
|
Cleft upper lip, U-Shaped upper lip vermilion, Absence of the pulmonary valve, Aortic valve steno... |
OMIM:601808 |
Autosomal Recessive Complex Spastic Paraplegia Due To Kennedy Pathway Dysfunction |
|
Bifid uvula, Cleft palate |
ORPHA:506353 |
Yunis-Varon Syndrome |
|
Short philtrum, Pyloric stenosis, Ventricular septal defect, Narrow nasal base, Abnormality of de... |
ORPHA:3472 |
Multiple Pterygium Syndrome, Escobar Variant |
|
High palate, Dental malocclusion, Narrow mouth, Multiple joint contractures, Triangular mouth, Cl... |
OMIM:265000 |
Robin Sequence With Distinctive Facial Appearance And Brachydactyly |
|
High palate, Bulbous nose, Long upper lip, Cleft palate, Everted lower lip vermilion, Pierre-Robi... |
OMIM:608670 |
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type |
|
Bulbous nose, Prominent nasal tip, Depressed nasal tip, Short philtrum, Broad columella, Thick na... |
ORPHA:293725 |
Intellectual Developmental Disorder, Autosomal Dominant 58 |
|
High palate, Wide mouth, Dental crowding, Broad nasal tip, Protruding tongue, Thick vermilion bor... |
OMIM:618106 |
Robinow Syndrome, Autosomal Dominant 2 |
|
Dental crowding, Wide mouth, Dental malocclusion, Gingival overgrowth, Triangular mouth, Cleft pa... |
OMIM:616331 |
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome |
|
Thick upper lip vermilion, Anal atresia, Dental malocclusion, Velopharyngeal insufficiency, Atria... |
ORPHA:363444 |
Chromosome 17Q12 Duplication Syndrome |
|
Atrial septal defect, Cleft soft palate, Esophageal atresia, Facial hypotonia, Smooth philtrum |
OMIM:614526 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Subdural hemorrhage, Dehydration, Hydrops fetalis, Pulmonary embolism, Stomatitis, Glossitis, Dil... |
ORPHA:79282 |
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome |
|
Camptodactyly of finger, Bifid uvula, Cleft palate, Submucous cleft hard palate |
ORPHA:2521 |
Sarcoidosis |
|
Joint swelling, Chylothorax, Facial palsy, Arrhythmia, Enlargement of parotid gland, Abnormal nas... |
ORPHA:797 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome |
|
High palate, Bicuspid aortic valve, Atrial septal defect, Cleft palate, Macroglossia, Atrioventri... |
ORPHA:453499 |
Pallister W Syndrome |
|
Agenesis of central incisor, Joint contracture of the hand, Broad nasal tip, Depressed nasal brid... |
OMIM:311450 |
Hemochromatosis, Neonatal |
|
Oligohydramnios, Nonimmune hydrops fetalis |
OMIM:231100 |
Hydrolethalus |
|
Cleft palate, Abnormality of the sense of smell, Gingival cleft, Bifid uvula, Polyhydramnios, Uni... |
ORPHA:2189 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1 |
|
Mitral stenosis, Atrial septal defect, Aortic valve stenosis, Hypoplastic left heart, Bifid uvula... |
OMIM:617660 |
Stickler Syndrome, Type I |
|
Cleft palate, Depressed nasal bridge, Bifid uvula, Mitral valve prolapse, Anteverted nares, Pierr... |
OMIM:108300 |
Blackfan-Diamond Anemia |
|
High palate, Abnormality of the thenar eminence, Atrial septal defect, Depressed nasal bridge, Wi... |
ORPHA:124 |
Van Der Woude Syndrome 1 |
|
Cleft upper lip, Hypodontia, Cleft palate, Bifid uvula, Lower lip pit |
OMIM:119300 |
Schilbach-Rott Syndrome |
|
Narrow mouth, Long nose, Bifid uvula, Prominent nose, Submucous cleft hard palate |
OMIM:164220 |
Rapp-Hodgkin Syndrome |
|
Cleft upper lip, Narrow mouth, Velopharyngeal insufficiency, Hypodontia, Cleft palate, Depressed ... |
OMIM:129400 |
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis |
|
Narrow mouth, Depressed nasal bridge, Delayed eruption of teeth, Bifid uvula, Polyhydramnios, Cle... |
OMIM:300990 |
Amish Lethal Microcephaly |
|
Limb hypertonia, Death in infancy, Cleft soft palate, Decreased fetal movement |
ORPHA:99742 |
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3 |
|
High palate, Dental malocclusion, Hypodontia, Joint contracture of the hand, Depressed nasal brid... |
OMIM:612350 |
Congenital Disorder Of Glycosylation, Type It |
|
Cleft palate, Sudden cardiac death, Tachycardia, Bifid uvula, Coarctation of aorta, Cardiomegaly,... |
OMIM:614921 |
Loeys-Dietz Syndrome 4 |
|
High palate, Torticollis, Bicuspid aortic valve, High, narrow palate, Eosinophilic infiltration o... |
OMIM:614816 |
Gaucher Disease Type 3 |
|
Aortic valve calcification, Mitral valve calcification, Hydrops fetalis, Abnormal myocardium morp... |
ORPHA:77261 |
W Syndrome |
|
Broad nasal tip, Depressed nasal bridge, Camptodactyly, Broad uvula, Agenesis of maxillary centra... |
ORPHA:2804 |
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects |
|
Duodenal atresia, Muscular ventricular septal defect, Tracheoesophageal fistula, Wide nose, Choan... |
OMIM:619227 |
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Hydrops fetalis |
ORPHA:766 |
Alpha-Thalassemia |
|
Hydrops fetalis |
ORPHA:846 |
Farber Disease |
|
Joint swelling, Flexion contracture, Recurrent upper respiratory tract infections, Hydrops fetali... |
ORPHA:333 |
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome |
|
Abnormal dental enamel morphology, Hypodontia, Cleft palate, Submucous cleft soft palate, Delayed... |
ORPHA:1071 |
Buratti-Harel Syndrome |
|
High palate, Atrial septal defect, Velopharyngeal insufficiency, Bifid uvula, Submucous cleft har... |
OMIM:619314 |
Spondylometaphyseal Dysplasia, Schmidt Type |
|
Polyhydramnios, Cleft soft palate |
ORPHA:93316 |
Zimmermann-Laband Syndrome |
|
High palate, Wide mouth, Bulbous nose, Supernumerary tooth, Hypodontia, Cleft palate, Macroglossi... |
ORPHA:3473 |
Greenberg Dysplasia |
|
Echogenic fetal bowel, Depressed nasal ridge, Depressed nasal bridge, Hydrops fetalis, Nonimmune ... |
OMIM:215140 |
8Q22.1 Microdeletion Syndrome |
|
Depressed nasal ridge, Abnormality of the nares, Abnormality of the dentition, Camptodactyly of f... |
ORPHA:178303 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2 |
|
High palate, Triangular mouth, Ventricular septal defect, Aortic root aneurysm, Right bundle bran... |
OMIM:617506 |
Acrocallosal Syndrome |
|
High palate, Wide mouth, Abnormal cardiac septum morphology, Triangular mouth, Cleft palate, Shor... |
OMIM:200990 |
Generalized Arterial Calcification Of Infancy |
|
Medial calcification of medium-sized arteries, Aortic dissection, Ventricular hypertrophy, Transi... |
ORPHA:51608 |
Arthrogryposis, Distal, Type 3 |
|
High palate, Cleft palate, Camptodactyly of toe, Camptodactyly of finger, Bifid uvula, Distal art... |
OMIM:114300 |
Meckel Syndrome 12 |
|
Bifid uvula, Arthrogryposis multiplex congenita, Anteverted nares, Oligohydramnios, Wide nasal br... |
OMIM:616258 |
Cardiofaciocutaneous Syndrome 1 |
|
High palate, Dental malocclusion, Bulbous nose, Atrial septal defect, Open bite, Pulmonic stenosi... |
OMIM:115150 |
Fraser Syndrome 3 |
|
Wide nose, Hydrops fetalis, Convex nasal ridge |
OMIM:617667 |
Lymphatic Malformation 1 |
|
Hyperkeratosis over edematous areas, Predominantly lower limb lymphedema, Nonimmune hydrops fetalis |
OMIM:153100 |
Hyperphosphatasia-Intellectual Disability Syndrome |
|
High palate, Telangiectasia, Bulbous nose, Single umbilical artery, Short philtrum, Bifid uvula, ... |
ORPHA:247262 |
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities |
|
Wide mouth, Secundum atrial septal defect, Pulmonic stenosis, Depressed nasal bridge, Abnormality... |
OMIM:615802 |
Vertebral Hypersegmentation And Orofacial Anomalies |
|
Unilateral cleft palate, Unilateral cleft lip, Anteverted nares, Scapular winging, Submucous clef... |
OMIM:619122 |
Phocomelia, Schinzel Type |
|
Anal atresia, High, narrow palate, Cleft palate, Tracheoesophageal fistula, Hydrops fetalis, Shor... |
ORPHA:2879 |
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities |
|
Facial diplegia, Secundum atrial septal defect, Hypertrophic cardiomyopathy, Short philtrum, Long... |
OMIM:619121 |
Bencze Syndrome |
|
Submucous cleft hard palate, Open bite |
ORPHA:1241 |
Moebius Syndrome |
|
High palate, Facial diplegia, Depressed nasal bridge, Abnormality of the dentition, Bifid uvula, ... |
OMIM:157900 |
Pulmonary Hypertension, Primary, 1 |
|
Elevated right atrial pressure, Pulmonary aterial intimal fibrosis, Right ventricular hypertrophy... |
OMIM:178600 |
Orofaciodigital Syndrome V |
|
High palate, Hypodontia, Cleft palate, Bifid tongue, Bifid uvula, Lobulated tongue, Tetralogy of ... |
OMIM:174300 |
Gaucher Disease |
|
Aortic valve calcification, Abnormal pericardium morphology, Mitral valve calcification, Hydrops ... |
ORPHA:355 |
Frontometaphyseal Dysplasia 2 |
|
High palate, Hip contracture, Bicuspid aortic valve, Cleft palate, Pulmonic stenosis, Broad nasal... |
OMIM:617137 |
Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Wide mouth, Narrow mouth, Left ventricular noncompaction cardiomyopathy, Atrial septal defect, Hi... |
OMIM:300967 |
Restrictive Dermopathy 1 |
|
Premature rupture of membranes, Limb joint contracture, Narrow mouth, Convex nasal ridge, Atrial ... |
OMIM:275210 |
Marbach-Schaaf Neurodevelopmental Syndrome |
|
Torticollis, Broad nasal tip, Depressed nasal bridge, Downturned corners of mouth, Thin upper lip... |
OMIM:619680 |
Cardiofaciocutaneous Syndrome |
|
High palate, Atrial septal defect, Pulmonic stenosis, Depressed nasal bridge, Long philtrum, Shor... |
ORPHA:1340 |
Holoprosencephaly 13, X-Linked |
|
Double outlet right ventricle, Duodenal atresia, Median cleft palate, Hypoplastic left heart, Cle... |
OMIM:301043 |
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted |
|
Anal atresia, Bulbous nose, Atrial septal defect, Cleft palate, Depressed nasal bridge, Abnormali... |
OMIM:300968 |
Isolated Childhood Apraxia Of Speech |
|
High, narrow palate, Submucous cleft hard palate |
ORPHA:209908 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
|
Cleft palate, Broad nasal tip, Ventricular septal defect, Open mouth, Intestinal pseudo-obstructi... |
ORPHA:453504 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
|
Cleft palate, Broad nasal tip, Ventricular septal defect, Open mouth, Intestinal pseudo-obstructi... |
ORPHA:352665 |
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia |
|
High palate, Bifid uvula, Ventricular septal defect, Choanal atresia, Prominent nasal bridge |
OMIM:300472 |
Kleefstra Syndrome 2 |
|
Bifid uvula, Everted lower lip vermilion |
OMIM:617768 |
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type |
|
Bulbous nose, Atrial septal defect, Atrioventricular canal defect, Long nose, Camptodactyly of fi... |
ORPHA:3047 |
Trisomy 8P |
|
Multiple joint contractures, Peripheral pulmonary artery stenosis, Cleft palate, Thin vermilion b... |
ORPHA:264450 |
Myhre Syndrome |
|
Abnormal cardiac septum morphology, Narrow mouth, Cleft palate, Skeletal muscle hypertrophy, Thin... |
ORPHA:2588 |
Hemifacial Hyperplasia With Strabismus |
|
Submucous cleft hard palate |
OMIM:141350 |
Cholestasis, Progressive Familial Intrahepatic, 5 |
|
Ascites, Nonimmune hydrops fetalis, Death in infancy, Pleural effusion |
OMIM:617049 |
Desmosterolosis |
|
Narrow mouth, Anomalous pulmonary venous return, Cleft palate, Intestinal malrotation, Depressed ... |
ORPHA:35107 |
Orofaciodigital Syndrome Type 2 |
|
High palate, Agenesis of central incisor, Taurodontia, Velopharyngeal insufficiency, Cleft palate... |
ORPHA:2751 |
Orofaciodigital Syndrome Iii |
|
Bulbous nose, Supernumerary tooth, Bifid tongue, Bifid uvula, Microdontia, Tongue nodules |
OMIM:258850 |
Prader-Willi Syndrome Due To Translocation |
|
High palate, Wide mouth, Alveolar ridge overgrowth, Cleft palate, Everted lower lip vermilion, Br... |
ORPHA:177907 |
Osteopathia Striata With Cranial Sclerosis |
|
High palate, Cleft palate, Ventricular septal defect, Thick lower lip vermilion, Cleft upper lip,... |
OMIM:300373 |
Trichohepatoenteric Syndrome 1 |
|
Wide mouth, Narrow mouth, Depressed nasal ridge, Pulmonic stenosis, Long philtrum, Bifid uvula, T... |
OMIM:222470 |
Microphthalmia, Syndromic 2 |
|
Contracture of the proximal interphalangeal joint of the 3rd toe, Radiculomegaly, Broad nasal tip... |
OMIM:300166 |
Pearson Syndrome |
|
Steatorrhea, Corneal stromal edema, Dehydration, Hydrops fetalis, Median cleft lip and palate, Ca... |
ORPHA:699 |
Cri-Du-Chat Syndrome |
|
High palate, Diastasis recti, Short philtrum, Anterior open-bite malocclusion, Bifid uvula, Oral ... |
OMIM:123450 |
Mucopolysaccharidosis Type 7 |
|
Hydrops fetalis, Lymphedema, Ascites |
ORPHA:584 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Hypertrophic cardiomyopathy, Hydrops fetalis |
OMIM:613673 |
Neu-Laxova Syndrome |
|
Cleft palate, Everted lower lip vermilion, Depressed nasal ridge, Flexion contracture, Muscular d... |
ORPHA:2671 |
Holoprosencephaly 3 |
|
Cleft palate, Depressed nasal bridge, Bifid uvula, Abnormality of the nose, Cleft lip, Solitary m... |
OMIM:142945 |
Otospondylomegaepiphyseal Dysplasia |
|
Cleft palate, Glossoptosis, Depressed nasal bridge, Bifid uvula, Polyhydramnios, Anteverted nares |
ORPHA:1427 |
Microcephaly, Developmental Delay, And Brittle Hair Syndrome |
|
Atrial septal defect, Flexion contracture, Narrow nose, Generalized limb muscle atrophy, Aortic r... |
OMIM:618891 |
Zttk Syndrome |
|
High palate, Narrow mouth, Atrial septal defect, Intestinal atresia, Flexion contracture, Thin ve... |
OMIM:617140 |
White-Sutton Syndrome |
|
High palate, Atrial septal defect, Congenital diaphragmatic hernia, Cleft palate, Thin vermilion ... |
OMIM:616364 |
Galactosialidosis |
|
Nonimmune hydrops fetalis, Conjunctival telangiectasia |
OMIM:256540 |
Orofaciodigital Syndrome Type 4 |
|
Abnormality of the tongue, Depressed nasal ridge, Cleft palate, Short philtrum, Short nose, Perin... |
ORPHA:2753 |
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome |
|
Tooth malposition, Cleft palate, Hyposmia, Failure of eruption of permanent teeth, Bifid uvula, S... |
ORPHA:2250 |
Sifrim-Hitz-Weiss Syndrome |
|
Atrial septal defect, Bifid uvula, Tetralogy of Fallot, Coarctation of aorta, Ventricular septal ... |
OMIM:617159 |
Tolchin-Le Caignec Syndrome |
|
High palate, Diastasis recti, Narrow mouth, Prominent nose, Cardiac rhabdomyoma, Wide nasal bridg... |
OMIM:618971 |
Marshall Syndrome |
|
Thick upper lip vermilion, Macrodontia of permanent maxillary central incisor, Cleft palate, Depr... |
OMIM:154780 |
Limb-Mammary Syndrome |
|
Joint contracture of the hand, Hypodontia, Cleft palate, Bifid uvula, Camptodactyly |
OMIM:603543 |
Cerebrocostomandibular Syndrome |
|
High palate, Atrial septal defect, Glossoptosis, Abnormality of the dentition, Short hard palate,... |
OMIM:117650 |
Cleft Palate With Or Without Ankyloglossia, X-Linked |
|
Ankyloglossia, Bifid uvula, Cleft palate |
OMIM:303400 |
Van Esch-O'Driscoll Syndrome |
|
Wide mouth, Pulmonary valve atresia, Atrial septal defect, Depressed nasal bridge, Tracheoesophag... |
OMIM:301030 |
Restrictive Dermopathy |
|
Multiple joint contractures, Narrow mouth, Aplasia/Hypoplasia involving the nose, Atrial septal d... |
ORPHA:1662 |
Temple Syndrome |
|
Premature birth, Bifid uvula |
ORPHA:254516 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type |
|
Dental crowding, Bulbous nose, High, narrow palate, Cleft palate, Short philtrum, Bifid uvula, An... |
OMIM:309583 |
Treacher Collins Syndrome 1 |
|
Wide mouth, Narrow mouth, Cleft palate, Choanal atresia, Abnormal parotid gland morphology, Cleft... |
OMIM:154500 |
Marden-Walker Syndrome |
|
Narrow mouth, Cleft palate, Muscular dystrophy, Abnormal anatomic location of the heart, Camptoda... |
ORPHA:2461 |
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2 |
|
Aortic rupture, Tricuspid regurgitation, Mitral regurgitation, Type 1 muscle fiber predominance, ... |
OMIM:614557 |
Apert Syndrome |
|
Ectopic anus, Narrow palate, Convex nasal ridge, Cleft palate, Depressed nasal bridge, Delayed er... |
ORPHA:87 |
Dysmorphism-Short Stature-Deafness-Disorder Of Sex Development Syndrome |
|
Submucous cleft soft palate, Wide nasal bridge, Short nose, Anteverted nares, Pulmonary arterial ... |
ORPHA:2282 |
15Q Overgrowth Syndrome |
|
High palate, Contracture of the proximal interphalangeal joint of the 2nd finger, High, narrow pa... |
ORPHA:314585 |
Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Convex nasal ridge, Thin vermilion border, Depressed nasal bridge, Long philtrum, Bifid uvula |
OMIM:241410 |
Orofaciodigital Syndrome Type 3 |
|
Bulbous nose, Abnormality of the dentition, Bifid uvula, Lobulated tongue, Hamartoma of tongue, I... |
ORPHA:2752 |
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness |
|
Hydrops fetalis, Polyhydramnios, Edema, Fetal polyuria, Premature birth |
OMIM:602522 |
Pearson Marrow-Pancreas Syndrome |
|
Malabsorption, Steatorrhea, Death in childhood, Dehydration, Hydrops fetalis, Villous atrophy |
OMIM:557000 |
Steinfeld Syndrome |
|
Aplasia of the nose, Median cleft lip and palate, Bifid uvula, Abnormal heart morphology |
OMIM:184705 |
Craniolenticulosutural Dysplasia |
|
High palate, Wide mouth, Cleft palate, Long philtrum, Delayed eruption of teeth, Bifid uvula, Car... |
OMIM:607812 |
Hardikar Syndrome |
|
Premature rupture of membranes, Atrial septal defect, Hematemesis, Intestinal malrotation, Coarct... |
OMIM:301068 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
High palate, Wide mouth, Muscular ventricular septal defect, Depressed nasal bridge, Delayed erup... |
OMIM:619503 |
Megalocornea-Mental Retardation Syndrome |
|
High palate, Depressed nasal bridge, Long philtrum, Bifid uvula, Wide nasal bridge |
OMIM:249310 |
Apert Syndrome |
|
Ectopic anus, Dental malocclusion, Narrow palate, Cleft palate, Depressed nasal bridge, Delayed e... |
OMIM:101200 |
Auriculocondylar Syndrome |
|
Dental malocclusion, Narrow mouth, Cleft palate, Glossoptosis, Bifid uvula, Hamartoma of tongue, ... |
ORPHA:137888 |
Walker-Warburg Syndrome |
|
Cleft palate, Muscular dystrophy, Bifid uvula, Aplasia/Hypoplasia involving the skeletal musculat... |
ORPHA:899 |
Tessadori-Van Haaften Neurodevelopmental Syndrome 3 |
|
Wide mouth, Bulbous nose, Cleft palate, Broad nasal tip, Eclabion, Short philtrum, Limb hypertoni... |
OMIM:619950 |
Craniosynostosis 2 |
|
Supernumerary tooth, Cleft soft palate |
OMIM:604757 |
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum |
|
Torticollis, Narrow mouth, Atrioventricular canal defect, Broad nasal tip, Bifid uvula, Coarctati... |
OMIM:619480 |
Meckel Syndrome, Type 10 |
|
Bifid uvula, Cleft palate, Camptodactyly |
OMIM:614175 |
Branchiogenic-Deafness Syndrome |
|
Branchial cyst, Branchial fistula, Submucous cleft hard palate |
OMIM:609166 |
Autoimmune Lymphoproliferative Syndrome |
|
Colitis, Gastritis, Hydrops fetalis, Vasculitis, Recurrent aphthous stomatitis, Neoplasm of the t... |
ORPHA:3261 |
Lethal Omphalocele-Cleft Palate Syndrome |
|
Cleft soft palate, Unilateral cleft lip, Bifid uvula, Cleft palate |
ORPHA:2736 |
Orofaciodigital Syndrome Type 10 |
|
Depressed nasal bridge, Accessory oral frenulum, Long philtrum, Cleft soft palate |
ORPHA:2756 |
Branchioskeletogenital Syndrome |
|
Premature loss of teeth, Thin vermilion border, Broad nasal tip, Depressed nasal bridge, Short ph... |
ORPHA:1299 |
Neurofacioskeletal Syndrome With Or Without Renal Agenesis |
|
Wide mouth, Hip contracture, Macroglossia, Broad nasal tip, Oligohydramnios, Microdontia, Thin lo... |
OMIM:619194 |
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
|
Abnormal pulmonary valve morphology, Supernumerary tooth, Aortic valve stenosis, Broad nasal tip,... |
ORPHA:268261 |
Yunis-Varon Syndrome |
|
High palate, Thin vermilion border, Broad alveolar ridges, Short philtrum, Hydrops fetalis, Prema... |
OMIM:216340 |
Mowat-Wilson Syndrome |
|
Abnormal heart morphology, Prominent nasal tip, Atrial septal defect, Tooth malposition, Cleft pa... |
OMIM:235730 |
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome |
|
Convex nasal ridge, Hypoplasia of the tooth germ, Bifid uvula, Contracture of the proximal interp... |
ORPHA:293967 |
Tetrasomy 9P |
|
High palate, Abnormal mitral valve morphology, Bulbous nose, Abnormal cardiac septum morphology, ... |
ORPHA:3310 |
Bifid Uvula |
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Cleft lip, Submucous cleft soft palate, Bifid uvula |
ORPHA:99771 |
Native American Myopathy |
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High palate, Muscle fiber atrophy, Cleft palate, Submucous cleft soft palate, Bifid uvula, Abnorm... |
ORPHA:168572 |
Coffin-Siris Syndrome 12 |
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High palate, Celiac disease, Bulbous nose, Prominent nasal tip, Velopharyngeal insufficiency, Low... |
OMIM:619325 |
Dubowitz Syndrome |
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High palate, Velopharyngeal insufficiency, Broad nasal tip, Agenesis of permanent teeth, Delayed ... |
OMIM:223370 |
Loeys-Dietz Syndrome 1 |
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Bicuspid aortic valve, Atrial septal defect, Eosinophilic infiltration of the esophagus, Cleft pa... |
OMIM:609192 |
Elsahy-Waters Syndrome |
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High palate, Bulbous nose, Impacted tooth, Delayed eruption of teeth, Anteriorly placed anus, Age... |
OMIM:211380 |
Robin Sequence With Cleft Mandible And Limb Anomalies |
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High palate, Narrow mouth, Cleft palate, Small thenar eminence, Bifid uvula, Aplasia of the epigl... |
OMIM:268305 |
Meester-Loeys Syndrome |
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Flexion contracture, Mitral regurgitation, Pulmonary artery aneurysm, Bifid uvula, Camptodactyly,... |
OMIM:300989 |
Anemia, Congenital Dyserythropoietic, Type Ia |
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Hydrops fetalis |
OMIM:224120 |
Chromosome 1P36 Deletion Syndrome, Distal |
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High palate, Depressed nasal ridge, Depressed nasal bridge, Ventricular septal defect, Aortic roo... |
OMIM:607872 |
Ring Chromosome 7 Syndrome |
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Narrow mouth, Median cleft palate, Cleft palate, Thin vermilion border, Short philtrum, Bifid uvu... |
ORPHA:1449 |
Desbuquois Dysplasia 2 |
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Hypodontia, Cleft palate, Depressed nasal bridge, Long philtrum, Bifid uvula, Dental crowding |
OMIM:615777 |
Branchiootorenal Syndrome 1 |
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High palate, Cleft palate, Intestinal malrotation, Branchial fistula, Microdontia, Bifid uvula, I... |
OMIM:113650 |
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis |
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Congenital diaphragmatic hernia, Bifid uvula, Cleft palate |
OMIM:606164 |
Frontometaphyseal Dysplasia |
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Hypoplasia of the musculature, Interphalangeal joint contracture of finger, Joint contracture of ... |
ORPHA:1826 |
Telangiectasia, Hereditary Hemorrhagic, Type 2 |
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Melena, Subarachnoid hemorrhage, Hematochezia, Lip telangiectasia, Facial telangiectasia, Fingerp... |
OMIM:600376 |
Birk-Barel Syndrome |
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High palate, Short philtrum, Submucous cleft soft palate, Bifid uvula, Tented upper lip vermilion |
OMIM:612292 |
Cree Mental Retardation Syndrome |
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Cleft soft palate |
OMIM:606851 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
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Cleft palate, Depressed nasal tip, Short philtrum, Pulmonary artery sling, Delayed eruption of te... |
ORPHA:261537 |
Pyruvate Kinase Deficiency Of Red Cells |
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Nonimmune hydrops fetalis |
OMIM:266200 |
Smith-Lemli-Opitz Syndrome |
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Cleft palate, Broad alveolar ridges, Depressed nasal bridge, Pyloric stenosis, Ventricular septal... |
OMIM:270400 |
Progeria-Short Stature-Pigmented Nevi Syndrome |
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Supraventricular arrhythmia, Dental malocclusion, Multiple joint contractures, Hypodontia, Fragil... |
ORPHA:2959 |
Loeys-Dietz Syndrome 3 |
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High palate, Cleft palate, Aortic tortuosity, Subarachnoid hemorrhage, Dilatation of the sinus of... |
OMIM:613795 |
Campomelic Dysplasia |
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High palate, Abnormal heart morphology, Narrow mouth, Depressed nasal ridge, Cleft palate, Depres... |
OMIM:114290 |
Niemann-Pick Disease Type C |
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Aplasia/Hypoplasia of the abdominal wall musculature, Hydrops fetalis, Foam cells, Fetal ascites,... |
ORPHA:646 |
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type |
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Cleft upper lip, Anal atresia, Ectopic anus, Depressed nasal bridge, Bifid tongue, Long philtrum,... |
ORPHA:93271 |
Holoprosencephaly 2 |
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Single ventricle, Bifid uvula, Bilateral cleft lip and palate, Aplasia of the nasal bone, Submuco... |
OMIM:157170 |
Aneurysm-Osteoarthritis Syndrome |
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High palate, Dental malocclusion, Cleft palate, Pulmonic stenosis, Mitral regurgitation, Left ven... |
ORPHA:284984 |
Semilobar Holoprosencephaly |
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High palate, Abnormal heart morphology, Cleft palate, Depressed nasal ridge, Flexion contracture,... |
ORPHA:220386 |
Alobar Holoprosencephaly |
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High palate, Abnormal heart morphology, Cleft palate, Depressed nasal ridge, Flexion contracture,... |
ORPHA:93925 |
Midline Interhemispheric Variant Of Holoprosencephaly |
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High palate, Abnormal heart morphology, Cleft palate, Depressed nasal ridge, Flexion contracture,... |
ORPHA:93926 |
Lobar Holoprosencephaly |
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High palate, Abnormal heart morphology, Cleft palate, Depressed nasal ridge, Flexion contracture,... |
ORPHA:93924 |
Telangiectasia, Hereditary Hemorrhagic, Type 1 |
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Melena, Telangiectasia of the skin, Miscarriage, Hemothorax, Pulmonary hemorrhage, Subarachnoid h... |
OMIM:187300 |
Hereditary Elliptocytosis |
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Hydrops fetalis |
ORPHA:288 |
Mowat-Wilson Syndrome |
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Abnormal cardiac septum morphology, Cleft palate, Depressed nasal tip, Pulmonary artery sling, De... |
ORPHA:2152 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
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Cleft palate, Depressed nasal tip, Short philtrum, Pulmonary artery sling, Delayed eruption of te... |
ORPHA:261552 |
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs |
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High palate, Dental malocclusion, Convex nasal ridge, Bifid uvula, Wide nose, Prominent nose, Lar... |
OMIM:601552 |
Limb-Mammary Syndrome |
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Hypodontia, Cleft palate, Submucous cleft soft palate, Bifid uvula, Cleft lip, Cleft hard palate |
ORPHA:69085 |
Frontofacionasal Dysplasia |
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Cleft upper lip, Bifid nose, Bifid uvula, Oral cleft, Short nose, Midline defect of the nose, Und... |
OMIM:229400 |
Loeys-Dietz Syndrome 2 |
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Bicuspid aortic valve, Atrial septal defect, Joint contracture of the hand, Eosinophilic infiltra... |
OMIM:610168 |
Baller-Gerold Syndrome |
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High palate, Anal atresia, Narrow mouth, Cleft palate, Bifid uvula, Anteriorly placed anus, Choan... |
OMIM:218600 |
Lenz-Majewski Hyperostotic Dwarfism |
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Wide mouth, High, narrow palate, Cleft palate, Bifid uvula, Choanal atresia, Thick vermilion bord... |
ORPHA:2658 |
Dubowitz Syndrome |
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High palate, Wide mouth, Malabsorption, Depressed nasal bridge, Abnormality of the dentition, Del... |
ORPHA:235 |
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly |
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High palate, Wide mouth, Accessory oral frenulum, Macroglossia, Depressed nasal bridge, Bifid uvu... |
OMIM:266920 |
Polydactyly, Postaxial, With Dental And Vertebral Anomalies |
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Dens in dente, Hypodontia, Macrodontia, Bifid uvula, Enamel hypoplasia |
OMIM:263540 |
Telangiectasia, Hereditary Hemorrhagic, Type 4 |
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Transient ischemic attack, High-output congestive heart failure, Cerebral hemorrhage, Right-to-le... |
OMIM:610655 |
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
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Convex nasal ridge, Flexion contracture, Cleft soft palate, Intestinal malrotation, Downturned co... |
OMIM:619321 |
Hepatoerythropoietic Porphyria |
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Nonimmune hydrops fetalis, Abnormality of the amniotic fluid, Erythrodontia, Edema |
ORPHA:95159 |
Meier-Gorlin Syndrome 5 |
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Thick vermilion border, Long philtrum, Submucous cleft hard palate |
OMIM:613805 |
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii |
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Bulbous nose, Cleft palate, Thickened nuchal skin fold, Long nose, Bifid uvula, Prominent nose, T... |
ORPHA:2636 |
Camptodactyly Syndrome, Guadalajara, Type I |
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High palate, Dental malocclusion, Narrow mouth, Depressed nasal bridge, Abnormality of dental eru... |
OMIM:211910 |
Pallister-Hall Syndrome |
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Anal atresia, Recurrent upper and lower respiratory tract infections, Accessory oral frenulum, At... |
ORPHA:672 |
Pallister-Killian Syndrome |
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Wide mouth, Cleft palate, Depressed nasal bridge, Delayed eruption of teeth, Ventricular septal d... |
OMIM:601803 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
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Atrial septal defect, Cleft palate, Thin vermilion border, Depressed nasal bridge, Short philtrum... |
ORPHA:500150 |
Ear-Patella-Short Stature Syndrome |
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Narrow mouth, High, narrow palate, Cleft palate, Camptodactyly of finger, Bifid uvula, Thick verm... |
ORPHA:2554 |
Congenital Erythropoietic Porphyria |
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Nonimmune hydrops fetalis, Abnormality of the amniotic fluid, Erythrodontia, Edema |
ORPHA:79277 |
Spondyloepiphyseal Dysplasia Congenita |
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Pierre-Robin sequence, Bifid uvula, Cleft palate |
OMIM:183900 |
Loeys-Dietz Syndrome |
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High palate, Camptodactyly of finger, Bifid uvula, Oral cleft, Aortic dissection, Aortic aneurysm... |
ORPHA:60030 |
Lacrimoauriculodentodigital Syndrome |
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Hypodontia, Corneal neovascularization, Abnormality of the dentition, Xerostomia, Microdontia, Bi... |
ORPHA:2363 |
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 1 |
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Narrow mouth, Cleft palate, Flexion contracture, Bifid uvula, Wide nasal bridge |
OMIM:130070 |
Wiedemann-Rautenstrauch Syndrome |
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Premature loss of teeth, Narrow mouth, Convex nasal ridge, Hypodontia, Dysplastic pulmonary valve... |
ORPHA:3455 |
Digeorge Syndrome |
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High palate, High, narrow palate, Cleft palate, Short philtrum, Bifid uvula, Tetralogy of Fallot,... |
OMIM:188400 |
Popliteal Pterygium Syndrome |
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Cleft upper lip, Cleft palate, Bifid uvula, Lower lip pit, Fibrous syngnathia |
OMIM:119500 |
Neuroocular Syndrome |
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Short uvula, Torus palatinus, Scapular winging, Downturned corners of mouth, Widely spaced teeth,... |
OMIM:619539 |
Aprosencephaly And Cerebellar Dysgenesis |
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Bifid uvula |
OMIM:601374 |
Microphthalmia, Syndromic 6 |
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High palate, Flexion contracture of thumb, Cleft palate, Bifid uvula, Microglossia |
OMIM:607932 |