| Genitopalatocardiac Syndrome |
|
Double outlet right ventricle, Cleft upper lip, Cleft palate, Micrognathia, Hypospadias, Ventricu... |
OMIM:231060 |
| Conotruncal Heart Malformations |
|
Double outlet right ventricle, Coarctation of aorta, Complete atrioventricular canal defect, Tran... |
OMIM:217095 |
| Thymic Aplasia With Fetal Death |
|
Renal agenesis, Ureteral agenesis, Truncus arteriosus |
OMIM:274210 |
| Congenital Heart Defects, Multiple Types, 6 |
|
Double outlet right ventricle, Secundum atrial septal defect, Pulmonic stenosis, Single ventricle... |
OMIM:613854 |
| Heterotaxy, Visceral, 4, Autosomal |
|
Atrioventricular canal defect, Dextrotransposition of the great arteries, Pulmonary artery atresi... |
OMIM:613751 |
| Fallot Complex With Severe Mental And Growth Retardation |
|
Double outlet right ventricle, Ventricular septal defect, Pulmonic stenosis, Tetralogy of Fallot |
OMIM:601127 |
| Cleft-Limb-Heart Malformation Syndrome |
|
Truncus arteriosus |
OMIM:215850 |
| Atrioventricular Septal Defect, Susceptibility To, 2 |
|
Dextrocardia, Right aortic arch with mirror image branching, Pulmonary artery atresia, Atrioventr... |
OMIM:606217 |
| Spondylocamptodactyly Syndrome |
|
Camptodactyly of finger, Platyspondyly, Scoliosis |
ORPHA:3180 |
| 14Q24.1Q24.3 Microdeletion Syndrome |
|
Atrial septal defect, Intestinal malrotation, Long philtrum, Wide nasal bridge, Short thumb, Pulm... |
ORPHA:401935 |
| Sacral Agenesis With Vertebral Anomalies |
|
Abnormal vertebral morphology, Absence of the sacrum |
OMIM:615709 |
| Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
|
Bicuspid aortic valve, Coarctation of aorta, Patent ductus arteriosus, Transposition of the great... |
OMIM:612474 |
| Spondyloepiphyseal Dysplasia, Maroteaux Type |
|
Genu valgum, Platyspondyly |
OMIM:184095 |
| Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities |
|
Ventricular septal defect, Renal cyst, Renal hypoplasia, Truncus arteriosus |
OMIM:228940 |
| Familial Scheuermann Disease |
|
Kyphosis, Abnormal form of the vertebral bodies |
ORPHA:3135 |
| Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs |
|
Short distal phalanx of finger, Cleft palate, Unilateral renal agenesis, Ventricular septal defec... |
OMIM:601355 |
| Vertebral Fusion, Posterior Lumbosacral, With Blepharoptosis |
|
Posterior fusion of lumbosacral vertebrae |
OMIM:192800 |
| Chromosome 22Q11.2 Deletion Syndrome, Distal |
|
Cleft palate, Malar flattening, Truncus arteriosus, Thin upper lip vermilion, Underdeveloped nasa... |
OMIM:611867 |
| Osteoarthritis With Mild Chondrodysplasia |
|
Irregular vertebral endplates, Joint stiffness, Beaking of vertebral bodies, Platyspondyly, Hip o... |
OMIM:604864 |
| Congenital Heart Defects, Multiple Types, 4 |
|
Aortic valve stenosis, Hypoplastic left heart, Atrioventricular canal defect, Coarctation of aort... |
OMIM:615779 |
| Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome |
|
Joint stiffness, Posterior fusion of lumbosacral vertebrae, Abnormal form of the vertebral bodies... |
ORPHA:2064 |
| Second Metatarsal-Metacarpal Syndrome |
|
Platyspondyly, Synostosis of carpals/tarsals |
OMIM:269630 |
| Heterotaxy, Visceral, 6, Autosomal |
|
Double outlet right ventricle, Hypoplastic left heart, Unbalanced atrioventricular canal defect, ... |
OMIM:614779 |
| Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome |
|
Short distal phalanx of finger, High, narrow palate, Cleft palate, Micrognathia, Ventricular sept... |
ORPHA:2516 |
| Right Atrial Isomerism |
|
Atrial septal defect, Pulmonic stenosis, Single ventricle, Right atrial isomerism, Tetralogy of F... |
OMIM:208530 |
| Spondylocamptodactyly |
|
Cervical platyspondyly, Scoliosis, Camptodactyly of finger, Camptodactyly |
OMIM:600000 |
| Heterotaxy, Visceral, 7, Autosomal |
|
Abnormal cardiac septum morphology, Atrial septal defect, Atrioventricular canal defect, Intestin... |
OMIM:616749 |
| Cervical Vertebral Dysplasia |
|
Anterior atlanto-occipital dislocation, Cervical vertebral dysplasia, Cervical vertebral facet hy... |
OMIM:118005 |
| Cayler Cardiofacial Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Tetralogy of Fallot |
OMIM:125520 |
| Brachyolmia Type 2 |
|
Platyspondyly |
OMIM:613678 |
| Microcephaly With Cervical Spine Fusion Anomalies |
|
Vertebral fusion, Spinal instability |
OMIM:251250 |
| Tricuspid Atresia |
|
Tricuspid atresia, Atrial septal defect, Cyanosis, Coarctation of aorta, Pulmonary artery atresia... |
ORPHA:1209 |
| Congenital Heart Defects, Multiple Types, 5 |
|
Double outlet right ventricle, Bicuspid aortic valve, Atrial septal defect, Aortic valve stenosis... |
OMIM:617912 |
| Ciliary Dyskinesia, Primary, 40 |
|
Atrioventricular canal defect, Unbalanced atrioventricular canal defect, Situs inversus totalis, ... |
OMIM:618300 |
| Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3 |
|
Double outlet right ventricle, Bicuspid aortic valve, Hypoplastic left heart, Unilateral renal ag... |
OMIM:618845 |
| Spondyloepiphyseal Dysplasia Tarda With Mental Retardation |
|
Anterior beaking of lumbar vertebrae, Platyspondyly |
OMIM:271620 |
| Aortic Arch Anomaly With Peculiar Facies And Mental Retardation |
|
Right aortic arch with mirror image branching |
OMIM:107500 |
| Heterotaxy, Visceral, 12, Autosomal |
|
Single coronary artery origin, Ventricular septal defect, Double outlet right ventricle, Dextrotr... |
OMIM:619702 |
| Lymphedema, Cardiac Septal Defects, And Characteristic Facies |
|
Hydrocele testis, Atrial septal defect, Overriding aorta, Broad nasal tip, Depressed nasal bridge... |
OMIM:601927 |
| Heterotaxy, Visceral, 8, Autosomal |
|
Double outlet right ventricle, Hypoplastic left heart, Atrial situs inversus, Unbalanced atrioven... |
OMIM:617205 |
| Congenital Heart Defects, Multiple Types, 7 |
|
Absence of the pulmonary valve, Pulmonic stenosis, Double aortic arch, Tetralogy of Fallot, Pulmo... |
OMIM:618780 |
| Spondyloepiphyseal Dysplasia, Kimberley Type |
|
Delayed skeletal maturation, Genu valgum, Platyspondyly, Genu varum |
OMIM:608361 |
| Structural Heart Defects And Renal Anomalies Syndrome |
|
Tricuspid atresia, Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Partial ... |
OMIM:617478 |
| Cardioacrofacial Dysplasia 2 |
|
Accessory oral frenulum, Prominent nasal tip, Hypodontia, Atrioventricular canal defect, Short ph... |
OMIM:619143 |
| Spondyloepiphyseal Dysplasia Tarda, Kohn Type |
|
Platyspondyly, Abnormality of the ankles, Abnormal vertebral morphology, Restricted large joint m... |
ORPHA:163665 |
| Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type |
|
Irregular vertebral endplates, Decreased hip abduction, Lumbar hyperlordosis, Platyspondyly, Scol... |
OMIM:609223 |
| Spondyloepiphyseal Dysplasia, Stanescu Type |
|
Joint stiffness, Kyphoscoliosis, Beaking of vertebral bodies, Platyspondyly, Stiff neck |
OMIM:616583 |
| Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly |
|
Subvalvular aortic stenosis, Complete atrioventricular canal defect, Coarctation of aorta |
OMIM:217085 |
| Testicular Anomalies With Or Without Congenital Heart Disease |
|
Perineal hypospadias, Microphallus, Tetralogy of Fallot, Micropenis |
OMIM:615542 |
| Autosomal Dominant Brachyolmia |
|
Increased vertebral height, Kyphoscoliosis, Platyspondyly |
ORPHA:93304 |
| Double Outlet Right Ventricle |
|
Double outlet right ventricle, Hypoparathyroidism, Narrow mouth, Hypoplastic left heart, Cleft pa... |
ORPHA:3426 |
| Partial Atrioventricular Septal Defect |
|
Double outlet right ventricle, Partial atrioventricular canal defect, Bacterial endocarditis, Ano... |
ORPHA:1330 |
| 14Q11.2 Microdeletion Syndrome |
|
High palate, Narrow mouth, Everted lower lip vermilion, Depressed nasal bridge, Micrognathia, Lon... |
ORPHA:261120 |
| Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Aortic valve stenosis, Pulmonic stenosis, Cystic renal dysplasia, Enlarged kidney, Situs inversus... |
OMIM:615415 |
| Johnson Neuroectodermal Syndrome |
|
Cleft palate, Micropenis, Retrognathia, Hypogonadotropic hypogonadism, Carious teeth, Ventricular... |
OMIM:147770 |
| Meacham Syndrome |
|
Cardiac total anomalous pulmonary venous connection, Bicuspid aortic valve, Atrial septal defect,... |
OMIM:608978 |
| Spondylocostal Dysostosis 6, Autosomal Recessive |
|
Spinal canal stenosis, Butterfly vertebrae, Hemivertebrae, Scoliosis, Cervical kyphosis |
OMIM:616566 |
| Ciliary Dyskinesia, Primary, 39 |
|
Double outlet right ventricle, Dextrocardia |
OMIM:618254 |
| Pierre Robin Syndrome |
|
Cleft palate, Glossoptosis, Micrognathia, Cor pulmonale, Pierre-Robin sequence |
OMIM:261800 |
| Stankiewicz-Isidor Syndrome |
|
Absent thumb, Micropenis, Retrognathia, Micrognathia, Hypospadias, Ureteral duplication, Short th... |
OMIM:617516 |
| Adams-Oliver Syndrome 6 |
|
Ventricular septal defect, Renal hypoplasia, Truncus arteriosus |
OMIM:616589 |
| Microphthalmia, Syndromic 9 |
|
Atrial septal defect, Multilobulated spleen, Pulmonic stenosis, Micrognathia, Single ventricle, W... |
OMIM:601186 |
| Morquio Syndrome C |
|
Platyspondyly |
OMIM:252300 |
| Multiple Synostoses Syndrome 2 |
|
Carpal synostosis, Vertebral fusion, Proximal symphalangism, Tarsal synostosis, Humeroradial syno... |
OMIM:610017 |
| Ciliary Dyskinesia, Primary, 37 |
|
Chronic rhinitis, Dextrocardia, Situs inversus totalis, Hypothyroidism, Goiter, Right aortic arch |
OMIM:617577 |
| Velocardiofacial Syndrome |
|
Hypoparathyroidism, Underdeveloped nasal alae, Bulbous nose, Velopharyngeal insufficiency, Cleft ... |
OMIM:192430 |
| Emanuel Syndrome |
|
High palate, Anal atresia, Atrial septal defect, Aortic valve stenosis, Cleft palate, Low hanging... |
OMIM:609029 |
| Ectrodactyly Of Lower Limbs, Congenital Heart Defect, And Micrognathia |
|
Ventricular septal defect, Hypoplastic right heart, Tetralogy of Fallot |
OMIM:601348 |
| Klippel-Feil Syndrome 3, Autosomal Dominant |
|
Cervical C5/C6 vertebrae fusion, Cervical C3/C4 vertebral fusion, Thoracic scoliosis |
OMIM:613702 |
| Venous Malformations, Multiple Cutaneous And Mucosal |
|
Venous malformation |
OMIM:600195 |
| Heterotaxy, Visceral, 1, X-Linked |
|
Posteriorly placed anus, Atrioventricular canal defect, Enlarged kidney, Ventricular septal defec... |
OMIM:306955 |
| Whim Syndrome 2 |
|
Tetralogy of Fallot |
OMIM:619407 |
| Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta |
|
Atrial septal defect, Hypoplastic left heart, Abnormal descending aorta morphology, Anomalous ori... |
ORPHA:99050 |
| Brachyolmia, Maroteaux Type |
|
Platyspondyly, Scoliosis, Abnormal form of the vertebral bodies |
ORPHA:93302 |
| Brachyolmia Type 1, Hobaek Type |
|
Sclerotic foci of metaphyses of the elbow, Kyphosis, Squared-off platyspondyly, Back pain, Osteop... |
OMIM:271530 |
| Tetralogy Of Fallot |
|
Tetralogy of Fallot |
OMIM:187500 |
| Scimitar Syndrome |
|
Tricuspid atresia, Anomalous pulmonary venous return, Ventricular septal defect, Descending aorta... |
ORPHA:185 |
| Congenitally Uncorrected Transposition Of The Great Arteries |
|
Abnormal pulmonary valve morphology, Abnormal mitral valve morphology, Anomalous pulmonary venous... |
ORPHA:860 |
| Renal Tubular Dysgenesis |
|
Nephropathy, Renotubular dysgenesis, Multiple renal cysts, Tetralogy of Fallot, Proximal tubulopathy |
ORPHA:3033 |
| Cortical Blindness, Retardation, And Postaxial Polydactyly |
|
Short nose, Long philtrum, Microretrognathia |
OMIM:218010 |
| Spondylocostal Dysostosis 1, Autosomal Recessive |
|
Vertebral segmentation defect, Kyphoscoliosis, Back pain, Hemivertebrae, Short neck, Block verteb... |
OMIM:277300 |
| Acitretin/Etretinate Embryopathy |
|
High palate, Hypoplastic nasal septum, Median cleft palate, Aplasia/Hypoplasia of the maxilla, Ap... |
ORPHA:40366 |
| Truncus Arteriosus |
|
Single coronary artery origin, Abnormal coronary artery morphology, Ventricular septal defect, Ca... |
ORPHA:3384 |
| Autosomal Dominant Coarctation Of Aorta |
|
Hypoplastic left heart, Ventricular septal defect, Aortic arch aneurysm, Abnormal aortic arch mor... |
ORPHA:1455 |
| 17Q21.31 Microduplication Syndrome |
|
High palate, Malar flattening, Abnormality of the dentition, Short philtrum, Micrognathia, Short ... |
ORPHA:217340 |
| Cleft Palate-Short Stature-Vertebral Anomalies Syndrome |
|
Cleft palate, Micrognathia, Short nose, Anteverted nares, Thin upper lip vermilion |
ORPHA:2015 |
| Sonoda Syndrome |
|
Ventricular septal defect, Depressed nasal bridge, Narrow mouth |
OMIM:270460 |
| Epiphyseal Dysplasia, Multiple, 7 |
|
Advanced ossification of carpal bones, Platyspondyly, Genu varum, Flat acetabular roof, Vertebral... |
OMIM:617719 |
| Brachydactylous Dwarfism, Mseleni Type |
|
Joint subluxation, Osteoarthritis of the elbow, Osteopenia, Platyspondyly, Abnormality of the ank... |
ORPHA:2619 |
| Coarctation Of Aorta |
|
Hypoplastic left heart, Coarctation of aorta |
OMIM:120000 |
| Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome |
|
Bicuspid aortic valve, Patent ductus arteriosus, Pseudocoarctation of the aorta |
ORPHA:228190 |
| Osteomesopyknosis |
|
Kyphosis, Increased bone mineral density, Scoliosis, Abnormal form of the vertebral bodies, Scler... |
ORPHA:2777 |
| Burn-Mckeown Syndrome |
|
Abnormal cardiac septum morphology, Bilateral choanal atresia, Short nose, Abnormal palate morpho... |
ORPHA:1200 |
| Tetralogy Of Fallot And Glaucoma |
|
Tetralogy of Fallot |
OMIM:187501 |
| Primary Basilar Invagination |
|
Abnormal vertebral morphology, Short neck, Abnormality of the cervical spine |
ORPHA:2285 |
| Porencephaly, Cerebellar Hypoplasia, And Internal Malformations |
|
Situs inversus totalis, Atrial septal defect, Tetralogy of Fallot |
OMIM:601322 |
| Spondyloepimetaphyseal Dysplasia, Di Rocco Type |
|
Delayed ossification of carpal bones, Reduced bone mineral density, Platyspondyly, Genu varum, Ir... |
OMIM:617974 |
| Acrocardiofacial Syndrome |
|
Cleft upper lip, Anal atresia, Mitral stenosis, Atrial septal defect, Hypoplasia of penis, Cleft ... |
ORPHA:2008 |
| Congenital Unilateral Hypoplasia Of Depressor Anguli Oris |
|
Tooth agenesis, Cleft palate, Abnormality of lower lip, Micrognathia, Multiple renal cysts, Tetra... |
ORPHA:1166 |
| Pseudodiastrophic Dysplasia |
|
Phalangeal dislocation, Platyspondyly, Scoliosis, Elbow dislocation |
ORPHA:85174 |
| Fetal Trimethadione Syndrome |
|
High palate, Atrial septal defect, Depressed nasal bridge, Micrognathia, Hypospadias, Tetralogy o... |
ORPHA:1913 |
| Osteogenesis Imperfecta, Type V |
|
Recurrent fractures, Limited pronation/supination of forearm, Anterior radial head dislocation, H... |
OMIM:610967 |
| Pulmonary Atresia With Ventricular Septal Defect |
|
Ventricular septal defect, Pulmonary artery atresia |
OMIM:178370 |
| 22Q11.2 Duplication Syndrome |
|
Hypoplastic left heart, Cleft palate, Depressed nasal ridge, Micrognathia, Tetralogy of Fallot, V... |
ORPHA:1727 |
| Lethal Congenital Contracture Syndrome 10 |
|
High palate, Narrow palate, Micrognathia, Hypoplasia of the thymus, Long philtrum, Ventricular se... |
OMIM:617022 |
| Atrial Septal Defect 4 |
|
Patent foramen ovale, Atrial septal defect, Coarctation of aorta |
OMIM:611363 |
| Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B |
|
Flexion contracture, Fused thoracic vertebrae, Short neck, Scoliosis, Fused cervical vertebrae, T... |
OMIM:618469 |
| Atrial Septal Defect 2 |
|
Atrial septal defect, Atrioventricular canal defect, Pulmonic stenosis, Ventricular septal defect... |
OMIM:607941 |
| Congenital Absence Of Upper Arm And Forearm With Hand Present |
|
Abnormal cardiac septum morphology, Congenital malformation of the great arteries, Cleft palate, ... |
ORPHA:294975 |
| Fetal Minoxidil Syndrome |
|
Ventricular septal defect, Depressed nasal bridge, Cryptorchidism, Micrognathia |
ORPHA:1918 |
| Cardiac, Facial, And Digital Anomalies With Developmental Delay |
|
Double outlet right ventricle, Hypoplastic left heart, Pulmonic stenosis, Coarctation of aorta, P... |
OMIM:618164 |
| Emanuel Syndrome |
|
High palate, Cleft palate, Delayed eruption of teeth, Ventricular septal defect, Submucous cleft ... |
ORPHA:96170 |
| Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 |
|
Ventricular septal defect, Atrial septal defect, Vascular ring |
OMIM:603387 |
| Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies |
|
Bicuspid aortic valve, Patent ductus arteriosus, Pseudocoarctation of the aorta |
OMIM:604381 |
| Kallmann Syndrome-Heart Disease Syndrome |
|
Double outlet right ventricle, Cleft palate, Micropenis, Hypogonadotropic hypogonadism, Pulmonary... |
ORPHA:2326 |
| Dysspondyloenchondromatosis |
|
Enlarged joints, Vertebral segmentation defect, Kyphoscoliosis, Joint dislocation, Generalized jo... |
ORPHA:85198 |
| Familial Aortic Dissection |
|
Carotid artery dilatation, Peripheral arterial stenosis, Stroke, Mucoid extracellular matrix accu... |
ORPHA:229 |
| Nephronophthisis 16 |
|
Aortic valve stenosis, Nephronophthisis, Pulmonic stenosis, Enlarged kidney, Situs inversus total... |
OMIM:615382 |
| 8P23.1 Duplication Syndrome |
|
Adrenal insufficiency, Pulmonic stenosis, Long philtrum, Tetralogy of Fallot, Ventricular septal ... |
ORPHA:251076 |
| Bruck Syndrome 1 |
|
Hip contracture, Kyphosis, Platyspondyly, Scoliosis, Osteoporosis, Protrusio acetabuli, Joint lax... |
OMIM:259450 |
| Pseudotrisomy 13 Syndrome |
|
Tricuspid atresia, Atrial septal defect, Micropenis, Renal agenesis, Coarctation of aorta, Ventri... |
OMIM:264480 |
| Transposition Of The Great Arteries, Dextro-Looped |
|
Transposition of the great arteries |
OMIM:608808 |
| Ritscher-Schinzel Syndrome 1 |
|
Double outlet right ventricle, Anal atresia, Atrial septal defect, Aortic valve stenosis, Cleft p... |
OMIM:220210 |
| Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe |
|
Right aortic arch, Coarctation of aorta |
OMIM:140850 |
| Ellis-Van Creveld Syndrome |
|
Cleft upper lip, Abnormality of the alveolar ridges, Atrial septal defect, Hypodontia, Short ribs... |
OMIM:225500 |
| Absence Of The Pulmonary Artery |
|
Abnormal cardiac septum morphology, Atrial septal defect, Cyanosis, Abnormal coronary artery morp... |
ORPHA:980 |
| Indomethacin Embryofetopathy |
|
Atrial septal defect, Abnormal renal tubule morphology, Multicystic kidney dysplasia, Nephropathy... |
ORPHA:1909 |
| Heterotaxy, Visceral, 2, Autosomal |
|
Double outlet right ventricle, Atrioventricular canal defect, Situs inversus totalis, Dextrocardi... |
OMIM:605376 |
| Gillespie Syndrome |
|
Truncus arteriosus |
OMIM:206700 |
| Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome |
|
Abnormal cardiac septum morphology, Neonatal death, Patent ductus arteriosus, Coarctation of aorta |
OMIM:601612 |
| Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps |
|
Stroke, Nephropathy, Hematuria, Renal cyst, Dilatation of the cerebral artery, Vascular dilatatio... |
OMIM:611773 |
| Deafness, Congenital Heart Defects, And Posterior Embryotoxon |
|
Ventricular septal defect, Peripheral pulmonary artery stenosis, Tetralogy of Fallot |
OMIM:617992 |
| Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive |
|
Hip osteoarthritis, Osteoarthritis, Platyspondyly |
OMIM:271600 |
| Heart Defects-Limb Shortening Syndrome |
|
Abnormal mitral valve morphology, Atrial septal defect, Mesomelic/rhizomelic limb shortening, Ven... |
ORPHA:1354 |
| Cardioacrofacial Dysplasia 1 |
|
Complete atrioventricular canal defect, Atrioventricular canal defect |
OMIM:619142 |
| Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies |
|
Double outlet right ventricle, Atrial septal defect, Hypospadias, Tetralogy of Fallot, Pulmonary ... |
OMIM:618316 |
| Atrial Septal Defect 5 |
|
Atrial septal defect |
OMIM:612794 |
| Chromosome 1P36 Deletion Syndrome, Proximal |
|
Bicuspid aortic valve, Atrial septal defect, Pulmonic stenosis, Ventricular septal defect, Partia... |
OMIM:619343 |
| Distal Trisomy 14Q |
|
Abnormality of the upper urinary tract, Patent ductus arteriosus, Abnormal aortic morphology |
ORPHA:1705 |
| Mmep Syndrome |
|
Oral cleft, Ventricular septal defect, Median cleft lip, Mandibular prognathia, Cryptorchidism |
ORPHA:3434 |
| Diamond-Blackfan Anemia 6 |
|
Cleft upper lip, Increased mean corpuscular volume, Atrial septal defect, Cleft palate, Retrognat... |
OMIM:612561 |
| Pallister-Hall-Like Syndrome |
|
Cleft palate, Short ribs, Micropenis, Depressed nasal bridge, Micrognathia, Micromelia, Anterior ... |
OMIM:241800 |
| Aortic Valve Disease 1 |
|
Mitral stenosis, Double outlet right ventricle, Bicuspid aortic valve, Aortic valve stenosis, Mit... |
OMIM:109730 |
| Aorta Coarctation |
|
Bicuspid aortic valve, Stroke, Hypoplastic left heart, Aortic valve atresia, Coarctation of the d... |
ORPHA:1457 |
| Brachyolmia Type 1, Toledo Type |
|
Irregular vertebral endplates, Squared-off platyspondyly, Precocious costochondral ossification, ... |
OMIM:271630 |
| Recombinant Chromosome 8 Syndrome |
|
Double outlet right ventricle, Gingival overgrowth, Atrial septal defect, Pulmonic stenosis, Abno... |
OMIM:179613 |
| X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome |
|
Abnormal sacrum morphology, Fused cervical vertebrae, Thoracic hemivertebrae, Scoliosis |
ORPHA:1436 |
| Hadziselimovic Syndrome |
|
High palate, Anal atresia, U-Shaped upper lip vermilion, Ventricular hypertrophy, Atrial septal d... |
OMIM:612946 |
| Catel-Manzke Syndrome |
|
Atrial septal defect, Malar flattening, Cleft palate, Glossoptosis, Micrognathia, Ventricular sep... |
ORPHA:1388 |
| 16P13.11 Microduplication Syndrome |
|
Atrial septal defect, Coarctation of aorta, Tetralogy of Fallot, Ventricular septal defect, Trans... |
ORPHA:261243 |
| Monosomy 13Q34 |
|
Pulmonic stenosis, Broad nasal tip, Micrognathia, Common atrium, Prominent nose, Prominent nasal ... |
ORPHA:96168 |
| Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy |
|
High palate, Double outlet right ventricle, Anomalous pulmonary venous return, Atrial septal defe... |
OMIM:619657 |
| Hamel Cerebro-Palato-Cardiac Syndrome |
|
Narrow mouth, Bulbous nose, Atrial septal defect, Malar flattening, Cleft palate, Micrognathia, W... |
ORPHA:93946 |
| Combined Oxidative Phosphorylation Deficiency 25 |
|
Decreased response to growth hormone stimulation test, Depressed nasal bridge, Long philtrum, Sho... |
OMIM:616430 |
| Von Willebrand Disease |
|
Abnormal mitral valve morphology, Venous insufficiency |
ORPHA:903 |
| White Forelock With Malformations |
|
Prominent veins on trunk, Atrial septal defect, Aplasia/Hypoplasia of the distal phalanges of the... |
OMIM:277740 |
| Tetraamelia Syndrome 2 |
|
Microretrognathia, Micropenis, Glossoptosis, Micrognathia, Ventricular septal defect, Hypoplastic... |
OMIM:618021 |
| Burn-Mckeown Syndrome |
|
Cleft upper lip, Narrow mouth, Atrial septal defect, Cleft palate, Thin vermilion border, Microgn... |
OMIM:608572 |
| Brachydactyly-Mesomelia-Intellectual Disability-Heart Defects Syndrome |
|
Abnormal mitral valve morphology, Tooth agenesis, Convex nasal ridge, Micrognathia, Mesomelia, Ab... |
ORPHA:1277 |
| Spondylocostal Dysostosis 5 |
|
Butterfly vertebrae, Hemivertebrae, Short neck, Scoliosis, Low back pain, Vertebral fusion |
OMIM:122600 |
| Alagille Syndrome 2 |
|
Peripheral pulmonary artery stenosis, Atrial septal defect, Renal tubular acidosis, Pulmonic sten... |
OMIM:610205 |
| Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Arteriovenous malformation, Narrow mouth, Convex nasal ridge, Carious teeth, Downturned corners o... |
ORPHA:1110 |
| Lethal Osteosclerotic Bone Dysplasia |
|
Gingival overgrowth, Depressed nasal ridge, Retrognathia, Micrognathia, Gingival fibromatosis, Sh... |
ORPHA:1832 |
| Chromosome 15Q14 Deletion Syndrome |
|
Atrial septal defect, Cleft palate, Everted lower lip vermilion, Short philtrum, Recurrent viral ... |
OMIM:616898 |
| 8p23.1 deletion syndrome |
|
Abnormal heart morphology, Atrial septal defect, Atrioventricular canal defect |
DECIPHER:39 |
| Hypoplastic Left Heart Syndrome |
|
Mitral stenosis, Atrial septal defect, Hypoplastic left heart, Mitral atresia, Patent ductus arte... |
ORPHA:2248 |
| Spondylocostal Dysostosis 4, Autosomal Recessive |
|
Vertebral segmentation defect, Hemivertebrae, Spina bifida occulta, Block vertebrae, Abnormality ... |
OMIM:613686 |
| Ventricular Septal Defect 3 |
|
Ventricular septal defect, Pulmonary artery stenosis, Patent ductus arteriosus, Atrial septal defect |
OMIM:614432 |
| Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation |
|
Atrial septal defect, Micrognathia, Short philtrum, Ventricular septal defect, Widely-spaced maxi... |
OMIM:608227 |
| Microphthalmia, Syndromic 12 |
|
Retrognathia, Broad nasal tip, Micrognathia, Hypoplastic left atrium, Ventricular septal defect, ... |
OMIM:615524 |
| Mental Retardation, X-Linked 91 |
|
High palate, Small hand, Short 5th finger, Macrodontia, Short nose, Short foot |
OMIM:300577 |
| Adams-Oliver Syndrome 4 |
|
Short toe, Absent middle phalanx of the 3rd toe, Atrial septal defect, Aplasia of the middle phal... |
OMIM:615297 |
| Mesoaxial Hexadactyly And Cardiac Malformation |
|
Atrial septal defect, Everted lower lip vermilion, Pulmonic stenosis, Ventricular septal defect, ... |
OMIM:249670 |
| Fallot Complex-Intellectual Disability-Growth Delay Syndrome |
|
High palate, Double outlet right ventricle, Atrial septal defect, Cryptorchidism, Overriding aort... |
ORPHA:3304 |
| Hypoplastic Left Heart Syndrome 1 |
|
Aortic valve stenosis, Hypoplastic left heart, Coarctation of aorta |
OMIM:241550 |
| Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant |
|
Irregular vertebral endplates, Kyphoscoliosis, Lumbar hyperlordosis, Platyspondyly, Short neck, A... |
OMIM:184100 |
| Congenital Heart Defects, Multiple Types, 3 |
|
Persistent left superior vena cava, Atrial septal defect, Tetralogy of Fallot, Abnormal heart mor... |
OMIM:614954 |
| Spondylosis, Cervical |
|
Spondylolisthesis, Spondylolysis, Osteoarthritis, Spina bifida occulta, Cervical spondylosis |
OMIM:184300 |
| Distal 7Q11.23 Microdeletion Syndrome |
|
Patent ductus arteriosus, Atrial septal defect |
ORPHA:254351 |
| Aorto-Ventricular Tunnel |
|
Abnormal coronary artery morphology, Aorto-ventricular tunnel, Aortic root aneurysm, Ventricular ... |
ORPHA:3400 |
| Congenital Heart Defect-Round Face-Developmental Delay Syndrome |
|
Narrow mouth, Abnormal oral cavity morphology, Depressed nasal ridge, Hypospadias, Short nose, An... |
ORPHA:1355 |
| Megabladder, Congenital |
|
Left ventricular noncompaction cardiomyopathy, Bicuspid aortic valve, Atrial septal defect, Ventr... |
OMIM:618719 |
| Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2 |
|
High palate, Retrognathia, Depressed nasal bridge, Short nose, Anteverted nares |
OMIM:614069 |
| Immunodeficiency 42 |
|
Hypoplasia of the thymus |
OMIM:616622 |
| Chromosome 14Q11-Q22 Deletion Syndrome |
|
High palate, Narrow mouth, Depressed nasal bridge, Micrognathia, Long philtrum, Ventricular septa... |
OMIM:613457 |
| Craniostenosis, Sagittal, With Congenital Heart Disease, Mental Deficiency, And Mandibular Ankylosis |
|
Cryptorchidism, Micropenis, Micrognathia, Trismus, Microphallus, Abnormal heart morphology |
OMIM:218450 |
| Fetal Encasement Syndrome |
|
Horseshoe kidney, Increased urinary 8-oxo-7,8-dihydroguanosine level, Tetralogy of Fallot |
OMIM:613630 |
| Pseudoachondroplasia |
|
Irregular carpal bones, Platyspondyly, Irregular acetabular roof, Genu valgum, Distal joint laxit... |
ORPHA:750 |
| Phenobarbital Embryopathy |
|
Abnormal mitral valve morphology, Hypospadias, Tetralogy of Fallot |
ORPHA:1919 |
| Peroxisome Biogenesis Disorder 3A (Zellweger) |
|
Polycystic kidney dysplasia, Vascular dilatation |
OMIM:614859 |
| Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Hypoplasia of the thymus, Lymphopenia |
OMIM:200900 |
| Distal 22Q11.2 Microdeletion Syndrome |
|
Short distal phalanx of finger, Short palm, Narrow mouth, Atrial septal defect, High, narrow pala... |
ORPHA:261330 |
| Mental Retardation, Skeletal Dysplasia, And Abducens Palsy |
|
Thoracic hemivertebrae, Fused cervical vertebrae, Prominent metopic ridge, Scoliosis |
OMIM:309620 |
| Intellectual Developmental Disorder, Autosomal Dominant 21 |
|
Narrow mouth, Atrial septal defect, Cleft palate, Thin vermilion border, Long philtrum, Coarctati... |
OMIM:615502 |
| Maxillonasal Dysplasia |
|
Short distal phalanx of finger, Tooth agenesis, Depressed nasal ridge, Cleft palate, Open bite, D... |
ORPHA:1248 |
| Hypomandibular Faciocranial Dysostosis |
|
Atrial septal defect, Pursed lips, Malar flattening, Micrognathia, Aglossia, Patent ductus arteri... |
OMIM:241310 |
| Heart Defects, Congenital, And Other Congenital Anomalies |
|
Hypoplastic tricuspid valve, Glycosuria, Ventricular septal defect, Pancreatic hypoplasia, Microc... |
OMIM:600001 |
| Spondyloepimetaphyseal Dysplasia, Handigodu Type |
|
Hip contracture, Hump-shaped mound of bone in central and posterior portions of vertebral endplat... |
ORPHA:99642 |
| Spondyloepiphyseal Dysplasia, Kimberley Type |
|
Osteoarthritis, Platyspondyly |
ORPHA:93283 |
| Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome |
|
Short distal phalanx of finger, Narrow mouth, Precocious puberty, Atrial septal defect, Short dis... |
OMIM:619356 |
| Isolated Dandy-Walker Malformation |
|
Tetralogy of Fallot, Cleft palate |
ORPHA:217 |
| Spondylometaphyseal Dysplasia, A4 Type |
|
Platyspondyly, Limitation of joint mobility |
ORPHA:168555 |
| Faciocardiomelic Syndrome |
|
Dental malocclusion, Wide mouth, Depressed nasal bridge, Micrognathia, Hyperplasia of the maxilla... |
OMIM:612731 |
| Chromosome 16P13.3 Duplication Syndrome |
|
Short toe, Bulbous nose, Atrial septal defect, Malar flattening, Ventricular septal defect, Short... |
OMIM:613458 |
| Aortic Arch Interruption |
|
Double outlet right ventricle, Abnormal ascending aorta morphology, Bicuspid aortic valve, Aortic... |
ORPHA:2299 |
| Congenital Heart Defects, Multiple Types, 2 |
|
Bicuspid aortic valve, Aortic valve stenosis, Myxomatous mitral valve degeneration, Tetralogy of ... |
OMIM:614980 |
| Isolated Polycystic Liver Disease |
|
Vascular dilatation, Multiple renal cysts |
ORPHA:2924 |
| Linear Skin Defects With Multiple Congenital Anomalies 2 |
|
Atrial septal defect, Long philtrum, Tetralogy of Fallot, Short nose, Ventricular hypertrophy |
OMIM:300887 |
| Progressive Pseudorheumatoid Arthropathy Of Childhood |
|
Platyspondyly, Irregular acetabular roof, Genu valgum, Polyarticular arthropathy, Generalized ost... |
ORPHA:1159 |
| Tubulointerstitial Kidney Disease, Autosomal Dominant, 5 |
|
Chronic kidney disease, Nephropathy, Focal segmental glomerulosclerosis, Renal cyst, Vascular dil... |
OMIM:617056 |
| RCAD (renal cysts and diabetes) |
|
Multiple renal cysts |
DECIPHER:47 |
| Acrodysplasia Scoliosis |
|
Vertebral segmentation defect, Scoliosis, Spina bifida occulta |
ORPHA:2956 |
| Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type |
|
Platyspondyly, Scoliosis, Genu varum |
OMIM:618728 |
| Tetralogy Of Fallot |
|
Thin vermilion border, Cryptorchidism, Tetralogy of Fallot |
ORPHA:3303 |
| Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Urethral atresia, Atrioventricular canal defect, Enlarged kidney, Transposition of the great arte... |
OMIM:314390 |
| Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A |
|
Carpal synostosis, Hip contracture, Multiple pterygia, Spondylolisthesis, Craniosynostosis, Hemiv... |
OMIM:178110 |
| Ring Chromosome 8 Syndrome |
|
Abnormality of the ureter, Anteverted nares, Short nose, Hydronephrosis, Abnormal palate morphology |
ORPHA:1450 |
| Dextrocardia With Unusual Facies And Microphthalmia |
|
Vertebral segmentation defect, Vertebral fusion |
OMIM:221950 |
| Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction |
|
Bulbous nose, Atrial septal defect, Micropenis, Ventricular septal defect, Short nose, Patent duc... |
OMIM:613870 |
| Down Syndrome |
|
Double outlet right ventricle, Atrial septal defect, Atrioventricular canal defect, Tetralogy of ... |
OMIM:190685 |
| Short Stature-Wormian Bones-Dextrocardia Syndrome |
|
High palate, Anal atresia, Tooth agenesis, Midshaft hypospadias, Cryptorchidism, Micrognathia, De... |
ORPHA:2863 |
| Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction |
|
Ventricular septal defect, Left superior vena cava draining directly to the left atrium, Howell-J... |
OMIM:613759 |
| Beaulieu-Boycott-Innes Syndrome |
|
Dental malocclusion, Velopharyngeal insufficiency, Low hanging columella, Unilateral renal agenes... |
OMIM:613680 |
| Non-Distal Trisomy 10Q |
|
High palate, Convex nasal ridge, Everted lower lip vermilion, Depressed nasal bridge, Micrognathi... |
ORPHA:1695 |
| Congenital Heart Defects And Skeletal Malformations Syndrome |
|
High palate, Anal atresia, Atrial septal defect, Cryptorchidism, Intestinal malrotation, Long nos... |
OMIM:617602 |
| Heterotaxy, Visceral, 5, Autosomal |
|
Double outlet right ventricle, Atrial septal defect, Double inlet left ventricle, Atrioventricula... |
OMIM:270100 |
| Developmental Delay With Or Without Dysmorphic Facies And Autism |
|
Wide mouth, Bulbous nose, Abnormal cardiac septum morphology, Cleft palate, Depressed nasal bridg... |
OMIM:618454 |
| Holzgreve Syndrome |
|
Cleft upper lip, Renal hypoplasia, Hypoplastic left heart, Cleft palate |
OMIM:236110 |
| Spondylocostal Dysostosis 3, Autosomal Recessive |
|
Vertebral segmentation defect, Kyphosis, Supernumerary vertebral ossification centers, Scoliosis,... |
OMIM:609813 |
| Methimazole Embryofetopathy |
|
Abnormality of the thyroid gland, Tracheoesophageal fistula, Hypospadias, Coarctation of aorta, V... |
ORPHA:1923 |
| Pmp22-Rai1 Contiguous Gene Duplication Syndrome |
|
Double outlet right ventricle, Bicuspid aortic valve, Atrial septal defect, Abnormal renal morpho... |
ORPHA:477817 |
| Cardioneuromyopathy With Hyaline Masses And Nemaline Rods |
|
Cervical vertebral bodies with decreased anteroposterior diameter, Fusion of midcervical facet jo... |
OMIM:606842 |
| Fryns Syndrome |
|
High palate, Wide mouth, Abnormal cardiac septum morphology, Cleft palate, Tented upper lip vermi... |
ORPHA:2059 |
| Gm1-Gangliosidosis, Type Iii |
|
Kyphosis, Anterior beaking of lumbar vertebrae, Platyspondyly, Scoliosis, Hypoplastic acetabulae |
OMIM:230650 |
| Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes |
|
Irregular vertebral endplates, Kyphoscoliosis, Platyspondyly, Lumbar scoliosis |
OMIM:612847 |
| Rubinstein-Taybi Syndrome 1 |
|
High palate, Cleft palate, Premature thelarche, Ventricular septal defect, Hypoplasia of the maxi... |
OMIM:180849 |
| Bardet-Biedl Syndrome 10 |
|
Abnormality of the kidney, Renal cyst, Renal insufficiency |
OMIM:615987 |
| Dislocation Of Hip, Congenital, With Hyperextensibility Of Fingers And Facial Dysmorphism |
|
Atrial septal defect, Malar flattening, Patent ductus arteriosus, Patent foramen ovale, Vesicoure... |
OMIM:601450 |
| Teebi Hypertelorism Syndrome 1 |
|
Hydrocele testis, Atrial septal defect, Small hand, Depressed nasal bridge, Micrognathia, Long ph... |
OMIM:145420 |
| Isotretinoin-Like Syndrome |
|
Bicuspid aortic valve, Thin anteverted nares, Abnormal cardiac ventricle morphology, Aortic valve... |
ORPHA:2306 |
| Renal Dysplasia, Cystic, Susceptibility To |
|
Cystic renal dysplasia, Hyperechogenic kidneys, Renal dysplasia, Renal insufficiency, Vesicourete... |
OMIM:601331 |
| Thomas Syndrome |
|
Renal hypoplasia/aplasia, Multicystic kidney dysplasia, Hypoplastic left heart |
ORPHA:3316 |
| Microgastria-Limb Reduction Defects Association |
|
Type I truncus arteriosus, Secundum atrial septal defect, Absent thumb, Hand oligodactyly, Intest... |
OMIM:156810 |
| Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia |
|
Ectopic anus, Malar flattening, Cleft palate, Short philtrum, Downturned corners of mouth, Ventri... |
ORPHA:94066 |
| Coffin-Siris Syndrome 10 |
|
Anteverted nares, Wide mouth, Ventricular septal defect, Persistence of primary teeth |
OMIM:618506 |
| Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1 |
|
High palate, Short toe, Everted lower lip vermilion, Pulmonic stenosis, Long philtrum, Anterior o... |
OMIM:617877 |
| Spondylometaphyseal Dysplasia, X-Linked |
|
Enlarged joints, Kyphosis, Sclerosis of skull base, Hip contracture, Hyperextensibility of the fi... |
OMIM:313420 |
| Oculoauriculofrontonasal Syndrome |
|
Narrow mouth, Cleft palate, Micrognathia, Ventricular septal defect, Bifid nasal tip, Cleft lip, ... |
ORPHA:398156 |
| Ventricular Septal Defect 1 |
|
Ventricular septal defect, Pulmonic stenosis, Atrial septal defect |
OMIM:614429 |
| Fibromuscular Dysplasia, Arterial |
|
Aortic dissection, Stroke, Arterial fibromuscular dysplasia, Renovascular hypertension |
OMIM:135580 |
| Osteogenesis Imperfecta, Type Vi |
|
Beaking of vertebral bodies, Biconcave vertebral bodies, Protrusio acetabuli, Joint laxity, Incre... |
OMIM:613982 |
| Reticular Dysgenesis |
|
Hypoplasia of the thymus, Lymphopenia, Leukopenia, Congenital agranulocytosis |
OMIM:267500 |
| Rhiny |
|
Thin vermilion border, Short nose, Anteverted nares |
OMIM:180360 |
| Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion |
|
Bulbous nose, Bicuspid aortic valve, Pulmonic stenosis, Depressed nasal bridge, Coarctation of ao... |
ORPHA:284169 |
| Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome |
|
Anal atresia, Hypoplasia of penis, Hypospadias, Tetralogy of Fallot, Abnormal palate morphology, ... |
ORPHA:1381 |
| Epiphyseal Dysplasia, Multiple, With Severe Proximal Femoral Dysplasia |
|
Genu valgum, Platyspondyly, Irregularity of vertebral bodies |
OMIM:609324 |
| Li-Campeau Syndrome |
|
Atrial septal defect, Cryptorchidism, Micropenis, Long philtrum, Ventricular septal defect, Hypot... |
OMIM:619189 |
| Aortic Aneurysm, Familial Thoracic 4 |
|
Bicuspid aortic valve, Posterior cerebral artery stenosis, Stroke, Thoracic aortic aneurysm, Coro... |
OMIM:132900 |
| 8Q12 Microduplication Syndrome |
|
Narrow mouth, Atrial septal defect, Everted lower lip vermilion, Long philtrum, Ventricular septa... |
ORPHA:228399 |
| Congenital Tracheomalacia |
|
Atrial septal defect, Tracheoesophageal fistula, Double aortic arch, Esophageal atresia, Recurren... |
ORPHA:95430 |
| Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1 |
|
Ventricular septal defect, Abnormality of the dentition, Depressed nasal bridge, Micrognathia |
OMIM:616901 |
| Femoral-Facial Syndrome |
|
Cleft palate, Short fourth metatarsal, Ventricular septal defect, Short nose, Short fifth metatar... |
OMIM:134780 |
| Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
High palate, Cleft palate, Cor triatriatum, Splenomegaly, Erythroid hypoplasia, Patent ductus art... |
OMIM:612541 |
| Cardiomyopathy-Cataract-Hip Spine Disease Syndrome |
|
Avascular necrosis, Joint stiffness, Osteoarthritis, Platyspondyly, Abnormal intervertebral disk ... |
ORPHA:1345 |
| 8P23.1 Microdeletion Syndrome |
|
High palate, Abnormal cardiac septum morphology, Hypoplastic left heart, Cryptorchidism, Atrioven... |
ORPHA:251071 |
| Mullegama-Klein-Martinez Syndrome |
|
Abnormal cardiac septum morphology, Bulbous nose, Hypoplastic left heart, Cleft palate, Depressed... |
OMIM:301022 |
| Perlman Syndrome |
|
Hyperinsulinemia, Abnormal pancreas morphology, High, narrow palate, Hypoplasia of penis, Retrogn... |
ORPHA:2849 |
| Atrioventricular Septal Defect 5 |
|
Atrioventricular canal defect, Muscular ventricular septal defect |
OMIM:614474 |
| Bruck Syndrome |
|
Recurrent fractures, Joint stiffness, Kyphosis, Platyspondyly, Scoliosis, Osteoporosis, Wormian b... |
ORPHA:2771 |
| Robinow Syndrome, Autosomal Recessive 2 |
|
Gingival overgrowth, Bicuspid aortic valve, Triangular mouth, Abnormality of the dentition, Broad... |
OMIM:618529 |
| Microcephaly-Capillary Malformation Syndrome |
|
Short distal phalanx of finger, Atrial septal defect, Cleft palate, Right ventricular hypertrophy... |
OMIM:614261 |
| Spinal Muscular Atrophy, Type I |
|
Ventricular septal defect, Tongue fasciculations, Atrial septal defect |
OMIM:253300 |
| Nephronophthisis 20 |
|
Renal cyst, Renal insufficiency, Nephronophthisis, Stage 5 chronic kidney disease |
OMIM:617271 |
| Progressive Pseudorheumatoid Dysplasia |
|
Joint stiffness, Joint swelling, Kyphoscoliosis, Joint contracture of the hand, Osteoarthritis, P... |
OMIM:208230 |
| Meier-Gorlin Syndrome 7 |
|
Atrial septal defect, Micropenis, Hypospadias, Urethral stricture, Ventricular septal defect, Com... |
OMIM:617063 |
| Monosomy 18Q |
|
High palate, Wide mouth, Bulbous nose, Depressed nasal bridge, Short philtrum, Open mouth, Mandib... |
ORPHA:1600 |
| Autosomal Dominant Polycystic Kidney Disease |
|
Nephrolithiasis, Chronic kidney disease, Decreased glomerular filtration rate, Abnormal urinary e... |
ORPHA:730 |
| Osteogenesis Imperfecta, Type Ix |
|
Recurrent fractures, Kyphosis, Decreased calvarial ossification, Platyspondyly, Scoliosis, Wormia... |
OMIM:259440 |
| Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease |
|
Cerebral berry aneurysm, Hepatic cysts, Mitral valve prolapse, Polycystic kidney dysplasia, Renal... |
OMIM:173900 |
| Diaphanospondylodysostosis |
|
Abnormal vertebral segmentation and fusion, Short neck, Absent or minimally ossified vertebral bo... |
ORPHA:66637 |
| Spondyloepiphyseal Dysplasia Tarda |
|
Abnormally ossified vertebrae, Short neck, Platyspondyly, Biconcave vertebral bodies, Knee pain, ... |
ORPHA:93284 |
| 3C Syndrome |
|
Abnormal mitral valve morphology, Cleft palate, Atrioventricular canal defect, Depressed nasal br... |
ORPHA:7 |
| Chondrodysplasia With Joint Dislocations, Gpapp Type |
|
Short toe, Narrow mouth, Cleft palate, Micrognathia, Short nose, Short foot, Short metacarpal, Wi... |
OMIM:614078 |
| 22Q11.2 Deletion Syndrome |
|
Tricuspid atresia, Cholelithiasis, Bulbous nose, Cleft palate, Abnormality of the dentition, Shor... |
ORPHA:567 |
| Aortic Aneurysm, Familial Thoracic 7 |
|
Descending aortic dissection, Ascending aortic dissection, Aortic rupture, Aortic aneurysm |
OMIM:613780 |
| Pyle Disease |
|
Reduced bone mineral density, Platyspondyly, Scoliosis, Limited elbow extension, Genu valgum |
OMIM:265900 |
| Larsen-Like Osseous Dysplasia-Short Stature Syndrome |
|
Thin vermilion border, Abnormal cardiac septum morphology, Narrow mouth, Short nose |
ORPHA:2370 |
| Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies |
|
High palate, Broad nasal tip, Long nose, Depressed nasal bridge, Dextrotransposition of the great... |
OMIM:619995 |
| Lowry-Maclean Syndrome |
|
Convex nasal ridge, High, narrow palate, Cleft palate, Atrioventricular canal defect, Retrognathi... |
ORPHA:2409 |
| Zechi-Ceide Syndrome |
|
Short distal phalanx of finger, Atrial septal defect, Cleft palate, Thin vermilion border, Short ... |
ORPHA:217017 |
| Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome |
|
High palate, Atrial septal defect, Micropenis, Retrognathia, Depressed nasal bridge, Micrognathia... |
OMIM:618142 |
| Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome |
|
Thick upper lip vermilion, Anal atresia, Dental malocclusion, Velopharyngeal insufficiency, Atria... |
ORPHA:363444 |
| Bardet-Biedl Syndrome 16 |
|
Renal agenesis, Abnormality of the kidney, Renal dysplasia, Renal cyst, Renal insufficiency |
OMIM:615993 |
| Feingold Syndrome 2 |
|
Intestinal atresia, Short middle phalanx of the 2nd finger, Ventricular septal defect, Short thum... |
OMIM:614326 |
| Maxillonasal Dysplasia, Binder Type |
|
Short distal phalanx of finger, Dental malocclusion, Depressed nasal bridge, Short nose, Short co... |
OMIM:155050 |
| Cardiac Septal Defects With Coarctation Of The Aorta |
|
Secundum atrial septal defect, Coarctation of aorta, Perimembranous ventricular septal defect |
OMIM:212090 |
| Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Bicuspid aortic valve, Microretrognathia, Atrioventricular canal defect, Micrognathia, Hypospadia... |
ORPHA:508498 |
| Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease |
|
Polycystic kidney dysplasia, Dilatation of the cerebral artery, Hepatic cysts |
OMIM:600666 |
| Digeorge Syndrome |
|
High palate, Hydrocele testis, Cholelithiasis, Cleft palate, Ovarian cyst, Short philtrum, Thromb... |
OMIM:188400 |
| Diabetic Embryopathy |
|
Cleft palate, Micropenis, Micrognathia, Ureteral duplication, Tetralogy of Fallot, Ventricular se... |
ORPHA:1926 |
| Adenylosuccinate Lyase Deficiency |
|
Long philtrum, Short nose, Anteverted nares, Thin upper lip vermilion, Smooth philtrum |
ORPHA:46 |
| Grange Syndrome |
|
Ventricular septal defect, Arterial stenosis, Short palm, Patent ductus arteriosus |
ORPHA:79094 |
| Aortic Valve Disease 3 |
|
Bicuspid aortic valve, Aortic valve stenosis, Aortic root aneurysm, Atrial septal defect |
OMIM:618496 |
| Brachydactyly, Type B1 |
|
Joint contracture of the hand, Hypoplastic sacrum, Hemivertebrae, Delayed cranial suture closure,... |
OMIM:113000 |
| Ulnar/Fibula Ray Defect-Brachydactyly Syndrome |
|
Aplasia/Hypoplasia of the ulna, Atrial septal defect, Malar flattening, Aplasia/Hypoplasia of the... |
ORPHA:52056 |
| Nephronophthisis 14 |
|
Situs inversus totalis, Polycystic kidney dysplasia, Nephronophthisis |
OMIM:614844 |
| Igg4-Related Aortitis |
|
Thoracic aortic aneurysm, Abnormal common carotid artery morphology, Abnormal aortic arch morphol... |
ORPHA:449400 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5 |
|
Kyphosis, Scoliosis, Hyperlordosis, Pachygyria, Vertebral fusion, Achilles tendon contracture |
OMIM:606612 |
| 1Q21.1 Microduplication Syndrome |
|
Hypospadias, Tetralogy of Fallot |
ORPHA:250994 |
| Klippel-Feil Syndrome 2, Autosomal Recessive |
|
Cervical C2/C3 vertebral fusion, Fused cervical vertebrae, Short neck, Scoliosis |
OMIM:214300 |
| Mcdonough Syndrome |
|
Dental malocclusion, Atrial septal defect, Aortic valve stenosis, Pulmonic stenosis, Micrognathia... |
OMIM:248950 |
| Li-Ghorbani-Weisz-Hubshman Syndrome |
|
Atrial septal defect, Depressed nasal bridge, Downturned corners of mouth, Ventricular septal def... |
OMIM:618974 |
| Mitochondrial Myopathy And Sideroblastic Anemia |
|
High palate, Micrognathia, Long philtrum, Short nose, Delayed puberty, Anemia |
ORPHA:2598 |
| Autosomal Recessive Amelia |
|
Abnormal cardiac septum morphology, Hypoplasia of penis, Micrognathia, Acromelia of the lower lim... |
ORPHA:1027 |
| Catel-Manzke Syndrome |
|
High palate, Cleft upper lip, Cleft palate, Glossoptosis, Micrognathia, Coarctation of aorta, Ven... |
OMIM:616145 |
| Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
|
Kyphosis, Platyspondyly, Osteoporosis |
ORPHA:2786 |
| Maternal Phenylketonuria |
|
Double outlet right ventricle, Hypoplastic left heart, Coarctation of aorta, Tetralogy of Fallot,... |
ORPHA:2209 |
| Umbilical Cord Ulceration-Intestinal Atresia Syndrome |
|
Duodenal atresia, Intestinal atresia, Anemia, Ventricular septal defect, Abnormal tricuspid valve... |
ORPHA:3405 |
| Timothy Syndrome |
|
Depressed nasal bridge, Microdontia, Tetralogy of Fallot, Ventricular septal defect, Hypothyroidi... |
OMIM:601005 |
| Intellectual Developmental Disorder, Autosomal Recessive 73 |
|
Thick upper lip vermilion, Ventricular septal defect, Deep philtrum, Widely spaced teeth, Patent ... |
OMIM:619717 |
| Congenitally Corrected Transposition Of The Great Arteries |
|
Ventricular septal defect, Abnormal aortic valve cusp morphology, Abnormal heart morphology, Righ... |
ORPHA:216694 |
| Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features |
|
Malar flattening, Retrognathia, Broad nasal tip, Short nose, Open mouth, Enuresis |
OMIM:613670 |
| Osteogenesis Imperfecta, Type Xv |
|
Recurrent fractures, Platyspondyly, Scoliosis, Joint hypermobility, Bowing of limbs due to multip... |
OMIM:615220 |
| Simpson-Golabi-Behmel Syndrome, Type 2 |
|
High palate, Wide mouth, U-Shaped upper lip vermilion, Cleft palate, Micropenis, Recurrent upper ... |
OMIM:300209 |
| Feingold Syndrome Type 2 |
|
Jejunal atresia, Ventricular septal defect, Short middle phalanx of finger, Short thumb |
ORPHA:391646 |
| Bullous Dystrophy, Hereditary Macular Type |
|
Death in childhood, Acrocyanosis |
OMIM:302000 |
| Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome |
|
Cryptorchidism, Malar flattening, Micropenis, Thin vermilion border, Depressed nasal bridge, Micr... |
ORPHA:171839 |
| Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome |
|
Atrial septal defect, Everted lower lip vermilion, Depressed nasal bridge, Long philtrum, Posteri... |
ORPHA:75389 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type |
|
High palate, Dental crowding, Atrial septal defect, Long nose, Short philtrum, Micrognathia, Narr... |
OMIM:309520 |
| Greenberg Dysplasia |
|
Abnormal bone ossification, Anterior rib punctate calcifications, Abnormally ossified vertebrae, ... |
ORPHA:1426 |
| Diabetes Insipidus, Neurohypophyseal |
|
Long philtrum, Decreased circulating osteocalcin level, Wide nose, Short nose, Central diabetes i... |
OMIM:125700 |
| Lowry-Maclean Syndrome |
|
Convex nasal ridge, Delayed eruption of teeth, Cleft palate, Abnormal heart morphology |
OMIM:600252 |
| Atrioventricular Septal Defect With Blepharophimosis And Anal And Radial Defects |
|
Anal atresia, Atrial septal defect, Atrioventricular canal defect, Micrognathia, Absent radius, T... |
OMIM:600123 |
| Primary Ciliary Dyskinesia |
|
Double outlet right ventricle, Anomalous pulmonary venous return, Intestinal malrotation, Situs i... |
ORPHA:244 |
| Cleft Palate, Isolated |
|
Gingival overgrowth, Cleft palate, Micrognathia, Anterior open-bite malocclusion, Increased overbite |
OMIM:119540 |
| Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome |
|
Hypoplasia of penis, Depressed nasal bridge, Micrognathia, Aplasia of the proximal phalanges of t... |
ORPHA:2256 |
| Isolated Klippel-Feil Syndrome |
|
Cervical C2/C3 vertebral fusion, Abnormal vertebral segmentation and fusion, Abnormality of the v... |
ORPHA:2345 |
| Hypotonia, Infantile, With Psychomotor Retardation |
|
Ventricular septal defect, Cryptorchidism, Open mouth |
OMIM:616816 |
| Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Carious teeth, Ventricular septal defect, Abnormal heart morphology, Nephrolithiasis, Patent duct... |
ORPHA:353281 |
| Xk Aprosencephaly Syndrome |
|
Anal atresia, Narrow mouth, Atrial septal defect, Abnormality of the nares, Ventricular septal de... |
ORPHA:3469 |
| Pierpont Syndrome |
|
Short toe, Prominent median palatal raphe, Long upper lip, Everted lower lip vermilion, Thin verm... |
OMIM:602342 |
| Eng-Strom Syndrome |
|
Ventricular septal defect, Abnormal cardiac septum morphology |
ORPHA:1937 |
| Prune Belly Syndrome |
|
Urogenital sinus anomaly, Atrial septal defect, Abnormality of the ureter, Multicystic kidney dys... |
ORPHA:2970 |
| Filippi Syndrome |
|
Hypodontia, Low hanging columella, Thin vermilion border, Short philtrum, Microdontia, Ventricula... |
OMIM:272440 |
| Even-Plus Syndrome |
|
High palate, Anal atresia, Atrial septal defect, Hypodontia, Depressed nasal ridge, Bifid nasal t... |
OMIM:616854 |
| Infundibulopelvic Dysgenesis |
|
Multicystic kidney dysplasia, Microscopic hematuria |
OMIM:600989 |
| Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome |
|
Ectopic anus, Hypoplastic left heart, Cleft palate, Aplasia/Hypoplasia of the radius, Ventricular... |
ORPHA:2476 |
| Verheij Syndrome |
|
Abnormal cardiac septum morphology, Short 5th finger, Long philtrum, Short nose, Renal cyst, Rena... |
OMIM:615583 |
| Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome |
|
Cyanosis, Hypertrophic cardiomyopathy, Myopathy |
ORPHA:91130 |
| Treacher-Collins Syndrome |
|
High palate, Wide mouth, Cleft palate, Abnormality of the dentition, Tracheoesophageal fistula, H... |
ORPHA:861 |
| Diamond-Blackfan Anemia 16 |
|
Pulmonic stenosis, Anemia, Atrial septal defect |
OMIM:617408 |
| 3P25.3 Microdeletion Syndrome |
|
Atrial septal defect, High, narrow palate, Cleft palate, Pulmonic stenosis, Depressed nasal bridg... |
ORPHA:435638 |
| Keratoconus Posticus Circumscriptus |
|
Abnormal vertebral segmentation and fusion, Short neck, Limited elbow extension and supination |
OMIM:244600 |
| 9q subtelomeric deletion syndrome |
|
Anteverted nares, Short nose, Protruding tongue, Abnormal heart morphology |
DECIPHER:52 |
| Microcephalic Osteodysplastic Dysplasia, Saul-Wilson Type |
|
Irregularity of vertebral bodies, Platyspondyly, Hypoplasia of the odontoid process |
ORPHA:85172 |
| Fadd-Related Immunodeficiency |
|
Ventricular septal defect, Pulmonary artery atresia |
ORPHA:306550 |
| Wildervanck Syndrome |
|
Fused cervical vertebrae |
OMIM:314600 |
| Neurooculocardiogenitourinary Syndrome |
|
Atrial septal defect, Downturned corners of mouth, Ventricular septal defect, Patent ductus arter... |
OMIM:618652 |
| Aortic Arch Interruption, Facial Palsy, And Retinal Coloboma |
|
Facial palsy, Interrupted aortic arch, Coarctation of aorta |
OMIM:107550 |
| Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome |
|
Prominent nasal tip, Cleft palate, Depressed nasal bridge, Micrognathia, Hyperplasia of the maxil... |
ORPHA:513456 |
| Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3 |
|
Irregular vertebral endplates, Dislocated radial head, Knee dislocation, Short neck, Platyspondyl... |
OMIM:618395 |
| Spondyloepimetaphyseal Dysplasia With Joint Laxity |
|
Dislocated radial head, Beaking of vertebral bodies, Kyphoscoliosis, Platyspondyly, Scoliosis, Li... |
ORPHA:93359 |
| Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Right atrial enlargement, Restrictive cardiomyopathy, Hypoplasia of the thymus, B lymphocytopenia... |
OMIM:619313 |
| T-Cell Immunodeficiency, Recurrent Infections, And Autoimmunity With Or Without Cardiac Malformations |
|
Neutropenia, Atrial septal defect, Lymphopenia |
OMIM:614868 |
| Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature |
|
Ventricular septal defect, Peripheral arterial stenosis, Patent ductus arteriosus, Varicose veins |
OMIM:126320 |
| Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects |
|
Secundum atrial septal defect, Left ventricular hypertrophy, Tetralogy of Fallot, Pulmonary arter... |
OMIM:108900 |
| Renal Hypodysplasia/Aplasia 3 |
|
Renal agenesis, Multicystic kidney dysplasia, Renal dysplasia, Horseshoe kidney, Hydronephrosis, ... |
OMIM:617805 |
| 15Q11.2 Microdeletion Syndrome |
|
Atrial septal defect, Coarctation of aorta, Tetralogy of Fallot, Ventricular septal defect, Total... |
ORPHA:261183 |
| Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly |
|
Platyspondyly, Osteoporosis of vertebrae, Multiple small vertebral fractures |
OMIM:156510 |
| Transaldolase Deficiency |
|
Atrial septal defect, Hepatosplenomegaly, Coarctation of aorta, Biventricular hypertrophy, Anemia... |
ORPHA:101028 |
| Microgastria-Limb Reduction Defect Syndrome |
|
Hiatus hernia, Tracheoesophageal fistula, Horseshoe kidney, Perineal fistula, Anal atresia, Aplas... |
ORPHA:2538 |
| Hyperphosphatasia With Impaired Intellectual Development Syndrome 2 |
|
Anal atresia, Peripheral pulmonary artery stenosis, Atrial septal defect, Cleft palate, Shortenin... |
OMIM:614749 |
| Noonan Syndrome-Like Disorder With Loose Anagen Hair |
|
Thin vermilion border, Pulmonic stenosis, Carious teeth, Deep philtrum, Short nose, Anteverted na... |
ORPHA:2701 |
| Fetal Valproate Spectrum Disorder |
|
Narrow mouth, Depressed nasal ridge, Thin vermilion border, Long philtrum, Downturned corners of ... |
ORPHA:1906 |
| Syndromic Diarrhea |
|
Peripheral pulmonary artery stenosis, Colitis, Gastritis, Atrial septal defect, Bicuspid aortic v... |
ORPHA:84064 |
| Aortic Aneurysm, Familial Thoracic 8 |
|
Ascending aortic dissection, Abdominal aortic aneurysm, Coronary artery aneurysm, Coronary artery... |
OMIM:615436 |
| Pseudodiastrophic Dysplasia |
|
Lumbar hyperlordosis, Tongue-like lumbar vertebral deformities, Platyspondyly, Short neck, Scolio... |
OMIM:264180 |
| Complete Atrioventricular Septal Defect |
|
Primum atrial septal defect, Right ventricular hypertrophy, Displacement of the papillary muscles... |
ORPHA:1329 |
| Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Duodenal atresia, Lymphopenia, Enterocolitis, Intestinal atresia, Leukocytosis, Intestinal malrot... |
OMIM:243150 |
| Braddock-Carey Syndrome 1 |
|
U-Shaped upper lip vermilion, Cleft palate, Everted lower lip vermilion, Small hand, Multicystic ... |
OMIM:619980 |
| Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly |
|
High palate, Dental crowding, Bulbous nose, Atrial septal defect, Retrognathia, Depressed nasal b... |
OMIM:617061 |
| Craniofacioskeletal Syndrome |
|
Atrial septal defect, Cryptorchidism, Cleft palate, Small hand, Micrognathia, Short philtrum, Hyp... |
OMIM:300712 |
| Autosomal Dominant Omodysplasia |
|
Hypoplasia of penis, Malar flattening, Cryptorchidism, Depressed nasal bridge, Micrognathia, Shor... |
ORPHA:93328 |
| Robinow Syndrome, Autosomal Dominant 3 |
|
Triangular mouth, Cleft palate, Depressed nasal bridge, Ventricular septal defect, Short nose, An... |
OMIM:616894 |
| Fetal Alcohol Syndrome |
|
Atrial septal defect, Cleft palate, Micrognathia, Microdontia, Short nose, Non-midline cleft lip,... |
ORPHA:1915 |
| Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome |
|
Abnormal cardiac septum morphology, Narrow mouth, Abnormal nasal morphology, Depressed nasal brid... |
ORPHA:83473 |
| Microphthalmia-Microtia-Fetal Akinesia Syndrome |
|
Hypoplasia of penis, Micrognathia, Hydroureter, Short nose, Patent ductus arteriosus, Duodenal st... |
ORPHA:2547 |
| Baraitser-Winter Syndrome 1 |
|
Cleft upper lip, Wide mouth, Bicuspid aortic valve, Aortic valve stenosis, Micropenis, Retrognath... |
OMIM:243310 |
| Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Double outlet right ventricle, Patent ductus arteriosus, Atrial septal defect, Renal tubular dysf... |
OMIM:614886 |
| Nephrotic Syndrome, Type 11 |
|
High palate, Nephrotic syndrome, Cleft palate, Diffuse mesangial sclerosis, Micrognathia, Ventric... |
OMIM:616730 |
| Transaldolase Deficiency |
|
Wide mouth, Atrial septal defect, Splenomegaly, Thin vermilion border, Depressed nasal bridge, Sh... |
OMIM:606003 |
| 20P12.3 Microdeletion Syndrome |
|
Narrow mouth, Atrial septal defect, Malar flattening, Depressed nasal bridge, Long philtrum, Hypo... |
ORPHA:261295 |
| Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome |
|
Acrocyanosis |
ORPHA:86918 |
| Ehlers-Danlos Syndrome, Autosomal Dominant, Type Unspecified |
|
Mucoid extracellular matrix accumulation, Micrognathia, Myxomatous mitral valve degeneration, Aor... |
OMIM:130090 |
| Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction |
|
Double outlet right ventricle, Hypoparathyroidism, Narrow palate, Atrial septal defect, Decreased... |
OMIM:618223 |
| Teebi Hypertelorism Syndrome 2 |
|
High palate, Cleft palate, Everted lower lip vermilion, Broad nasal tip, Depressed nasal bridge, ... |
OMIM:619736 |
| Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Atrioventricular canal defect, Depressed nasal bridge, Ventricular septal defect, Cor triatriatum... |
OMIM:619534 |
| Chung-Jansen Syndrome |
|
High palate, Thin vermilion border, Micrognathia, Short philtrum, Long philtrum, Short nose, Ante... |
OMIM:617991 |
| Hydrocephaly-Low Insertion Umbilicus Syndrome |
|
Abnormality of the urinary system, Anomalous pulmonary venous return, Patent ductus arteriosus, T... |
ORPHA:2184 |
| Lujan-Fryns Syndrome |
|
High palate, Atrial septal defect, Abnormality of the dentition, Short philtrum, Micrognathia, Hy... |
ORPHA:776 |
| Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome |
|
Wide mouth, Everted lower lip vermilion, Short philtrum, Short nose, Mandibular prognathia, Thin ... |
ORPHA:2429 |
| Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome |
|
Hypoplastic left heart, Intestinal malrotation, Micrognathia, Bifid tongue, Bilateral cleft lip a... |
ORPHA:2001 |
| Pentasomy X |
|
Abnormal cardiac septum morphology, Small hand, Micrognathia, Patent ductus arteriosus, Short foo... |
ORPHA:11 |
| Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome |
|
Atrial septal defect, Abnormal nasal bone morphology, Downturned corners of mouth, Bifid nasal ti... |
ORPHA:521308 |
| Alzahrani-Kuwahara Syndrome |
|
Bulbous nose, Atrial septal defect, Hypodontia, Narrow philtrum, Micrognathia, Hypospadias, Pulmo... |
OMIM:619268 |
| Clark-Baraitser Syndrome |
|
High palate, Wide mouth, Low hanging columella, Depressed nasal bridge, Short philtrum, Long phil... |
OMIM:617752 |
| Dental Anomalies And Short Stature |
|
Narrow vertebral interpedicular distance, Platyspondyly, Intervertebral space narrowing, Delayed ... |
OMIM:601216 |
| Transketolase Deficiency |
|
Atrial septal defect, Abnormal coronary artery course, Increased level of ribose in urine, Ventri... |
ORPHA:488618 |
| Robinow Syndrome |
|
Dental crowding, Tricuspid atresia, Triangular mouth, Broad nasal tip, Depressed nasal bridge, Ve... |
ORPHA:97360 |
| Char Syndrome |
|
No permanent dentition, Persistence of primary teeth, Triangular mouth, Depressed nasal ridge, Ev... |
ORPHA:46627 |
| Cleft Palate, Cardiac Defects, And Mental Retardation |
|
Cleft upper lip, Short 2nd finger, Atrial septal defect, Cleft palate, Secundum atrial septal def... |
OMIM:600987 |
| Charge Syndrome |
|
Cleft palate, Tracheoesophageal fistula, Hypoplasia of the ulna, Ventricular septal defect, Horse... |
OMIM:214800 |
| Melanocytic Nevus Syndrome, Congenital |
|
Everted lower lip vermilion, Prominence of the premaxilla, Broad nasal tip, Long philtrum, Deep p... |
OMIM:137550 |
| Distal Trisomy 5Q |
|
Narrow mouth, Absent thumb, Thin vermilion border, Hypoplasia of the radius, Micrognathia, Hyposp... |
ORPHA:96097 |
| Cranioacrofacial Syndrome |
|
Pulmonic stenosis, Ventricular septal defect |
OMIM:122850 |
| Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome |
|
Complete atrioventricular canal defect, Urinary incontinence |
ORPHA:476126 |
| Bruck Syndrome 2 |
|
Flexion contracture, Osteopenia, Platyspondyly, Wormian bones, Elbow flexion contracture, Increas... |
OMIM:609220 |
| Fixed Subaortic Stenosis |
|
Bacterial endocarditis, Abnormal cardiac septum morphology, Bicuspid aortic valve, Atrioventricul... |
ORPHA:3092 |
| Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
|
Bicuspid aortic valve, Anomalous pulmonary venous return, Atrial septal defect, Atrioventricular ... |
ORPHA:1120 |
| Acromicric Dysplasia |
|
Narrow mouth, Bulbous nose, Small hand, Long philtrum, Short nose, Anteverted nares, Short palm, ... |
ORPHA:969 |
| 10Q22.3Q23.3 Microduplication Syndrome |
|
Hypospadias, Tetralogy of Fallot |
ORPHA:276422 |
| Multiple Epiphyseal Dysplasia, Beighton Type |
|
Joint stiffness, Thoracic scoliosis, Osteoarthritis, Biconcave vertebral bodies, Abnormal hip joi... |
ORPHA:166011 |
| Deafness, Onychodystrophy, Osteodystrophy, Mental Retardation, And Seizures Syndrome |
|
High palate, Short distal phalanx of finger, Gingival overgrowth, Bulbous nose, Atrial septal def... |
OMIM:220500 |
| Recombinant 8 Syndrome |
|
Cleft upper lip, Gingival overgrowth, Atrial septal defect, Cryptorchidism, Cleft palate, Abnorma... |
ORPHA:96167 |
| Facial Paresis, Hereditary Congenital, 3 |
|
Depressed nasal bridge, Micrognathia, Downturned corners of mouth, Short nose, Anteverted nares, ... |
OMIM:614744 |
| Stickler Syndrome Type 1 |
|
Cleft palate, Long philtrum, Mitral valve prolapse, Short nose, Hypoplasia of the maxilla |
ORPHA:90653 |
| Heart And Brain Malformation Syndrome |
|
High, narrow palate, Everted lower lip vermilion, Depressed nasal bridge, Ventricular septal defe... |
OMIM:616920 |
| Peroxisome Biogenesis Disorder 8A (Zellweger) |
|
Glossoptosis, Ventricular septal defect |
OMIM:614876 |
| Venular Insufficiency, Systemic |
|
Cyanosis |
OMIM:192700 |
| Sulfhemoglobinemia, Congenital |
|
Cyanosis |
OMIM:185460 |
| Aortic Aneurysm, Familial Thoracic 6 |
|
Premature coronary artery atherosclerosis, Thoracic aortic aneurysm, Ascending aortic dissection,... |
OMIM:611788 |
| Polycystic Kidney Disease 5 |
|
Polycystic kidney dysplasia, Hyperechogenic kidneys, Stage 5 chronic kidney disease |
OMIM:617610 |
| Holt-Oram Syndrome |
|
Anomalous pulmonary venous return, Atrial septal defect, Hypoplastic left heart, Atrioventricular... |
ORPHA:392 |
| Mental Retardation, Buenos Aires Type |
|
High palate, Wide mouth, Dental malocclusion, Atrial septal defect, Hypospadias, Carious teeth, P... |
OMIM:249630 |
| Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Complete atrioventricular canal defect, Tetralogy of Fallot, Micropenis |
OMIM:617925 |
| Atrial Septal Defect 1 |
|
Bicuspid aortic valve, Aortic valve stenosis, Secundum atrial septal defect, Atrial septal defect... |
OMIM:108800 |
| Phosphoserine Aminotransferase Deficiency |
|
Death in infancy, Cyanotic episode |
OMIM:610992 |
| Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency |
|
High palate, Wide mouth, Bulbous nose, Macroglossia, Depressed nasal bridge, Downturned corners o... |
ORPHA:369891 |
| Codas Syndrome |
|
Depressed nasal bridge, Hydroureter, Delayed eruption of teeth, Ventricular septal defect, Short ... |
ORPHA:1458 |
| German Syndrome |
|
High palate, Abnormal cardiac septum morphology, Everted lower lip vermilion, Depressed nasal bri... |
ORPHA:2077 |
| Asymmetric Short Stature Syndrome |
|
Lumbar scoliosis, Fused cervical vertebrae |
OMIM:108450 |
| Right Pulmonary Artery, Anomalous Origin Of, Familial |
|
Coarctation of aorta, Ventricular septal defect, Patent ductus arteriosus, Patent foramen ovale, ... |
OMIM:610338 |
| Helsmoortel-Van Der Aa Syndrome |
|
Abnormal heart morphology, Wide mouth, Decreased response to growth hormone stimulation test, Eve... |
OMIM:615873 |
| Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy |
|
Ventricular septal defect, Atrial septal defect |
OMIM:614249 |
| Hepatorenocardiac Degenerative Fibrosis |
|
Reduced renal corticomedullary differentiation, Hyperechogenic kidneys, Enlarged kidney, Renal in... |
OMIM:619902 |
| Noonan Syndrome 11 |
|
Bulbous nose, Atrial septal defect, Pulmonic stenosis, Depressed nasal bridge, Thick vermilion bo... |
OMIM:618499 |
| Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Double outlet right ventricle, Bicuspid aortic valve, Atrial septal defect, Coarctation of aorta,... |
ORPHA:371428 |
| Frontoocular Syndrome |
|
High palate, Narrow mouth, Atrial septal defect, Narrow philtrum, Pulmonic stenosis, Micrognathia... |
OMIM:605321 |
| Orofacial Cleft 13 |
|
Malar flattening, Retrognathia, Micrognathia, Oligodontia, Cleft soft palate |
OMIM:613857 |
| Spondyloepiphyseal Dysplasia Tarda, X-Linked |
|
Hump-shaped mound of bone in central and posterior portions of vertebral endplate, Kyphosis, Lumb... |
OMIM:313400 |
| Autism Spectrum Disorder Due To Auts2 Deficiency |
|
Narrow mouth, Prominent nasal tip, Atrial septal defect, Retrognathia, Micrognathia, Short philtr... |
ORPHA:352490 |
| Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
High palate, Hydrocele testis, Abnormal subclavian artery morphology, Carious teeth, Ventricular ... |
ORPHA:353284 |
| Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
High palate, Hydrocele testis, Abnormal subclavian artery morphology, Carious teeth, Ventricular ... |
ORPHA:353277 |
| Primary Pulmonary Hypoplasia |
|
Secundum atrial septal defect, Cyanosis, Dextrocardia, Abnormal hemidiaphragm morphology, Hypoxem... |
ORPHA:2257 |
| Peroxisome Biogenesis Disorder 2A (Zellweger) |
|
Aminoaciduria, Cleft palate, Micrognathia, Hypoplasia of the thymus, Polycystic kidney dysplasia,... |
OMIM:214110 |
| Spondylometaphyseal Dysplasia, Type A4 |
|
Platyspondyly, Irregular patellae, Ovoid vertebral bodies, Osteoporotic tarsals, Flat acetabular ... |
OMIM:609052 |
| Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome |
|
Retrognathia, Broad nasal tip, Recurrent upper respiratory tract infections, Downturned corners o... |
ORPHA:391372 |
| Fatty Acyl-Coa Reductase 1 Deficiency |
|
Depressed nasal bridge, Long philtrum, Short nose, Thin upper lip vermilion, Smooth philtrum |
ORPHA:438178 |
| Hypomandibular Faciocranial Dysostosis |
|
Narrow mouth, Atrial septal defect, Aplasia/Hypoplasia of the tongue, Cleft palate, Maxillozygoma... |
ORPHA:1790 |
| Meacham Syndrome |
|
Anomalous pulmonary venous return, Atrial septal defect, Aortic valve stenosis, Hypoplastic left ... |
ORPHA:3097 |
| Methemoglobinemia, Beta Type |
|
Cyanosis |
OMIM:617971 |
| Methemoglobinemia, Alpha Type |
|
Cyanosis |
OMIM:617973 |
| Aminopterin/Methotrexate Embryofetopathy |
|
Cleft palate, Micrognathia, Micromelia, Tetralogy of Fallot, Pulmonary artery atresia, Ventricula... |
ORPHA:1908 |
| Microform Holoprosencephaly |
|
Duodenal atresia, Hypoplasia of penis, Cleft palate, Short philtrum, Panhypopituitarism, Maternal... |
ORPHA:280200 |
| Lessel-Kreienkamp Syndrome |
|
Dental malocclusion, Bicuspid aortic valve, Atrial septal defect, Pulmonic stenosis, Patent ductu... |
OMIM:619149 |
| Woods Syndrome |
|
Supernumerary nipple, Low hanging columella, Thin vermilion border, Ventricular septal defect, Wi... |
OMIM:615236 |
| 3-Hydroxyisobutyryl-Coa Hydrolase Deficiency |
|
Aminoaciduria, Tetralogy of Fallot |
OMIM:250620 |
| Mayer-Rokitansky-Küster-Hauser Syndrome |
|
Vertebral segmentation defect, Vertebral fusion, Abnormal sacrum morphology, Abnormal form of the... |
ORPHA:3109 |
| Atelosteogenesis, Type Ii |
|
Lumbar hyperlordosis, Increased intervertebral space, Horizontal sacrum, Platyspondyly, Short nec... |
OMIM:256050 |
| Coffin-Siris Syndrome 5 |
|
Short distal phalanx of finger, Wide mouth, Atrial septal defect, Depressed nasal bridge, Short p... |
OMIM:616938 |
| Hanac Syndrome |
|
Renal insufficiency, Multiple renal cysts, Hematuria |
ORPHA:73229 |
| Shashi-Pena Syndrome |
|
Retrognathia, Broad nasal tip, Atrial septal defect |
OMIM:617190 |
| Chromosome 9P Deletion Syndrome |
|
High palate, Depressed nasal bridge, Ventricular septal defect, High, narrow palate, Retrognathia... |
OMIM:158170 |
| 16P12.1P12.3 Triplication Syndrome |
|
Wide mouth, Bulbous nose, Atrial septal defect, High, narrow palate, Malar flattening, Decreased ... |
ORPHA:485405 |
| C Syndrome |
|
High palate, Wide mouth, Accessory oral frenulum, Renal cortical cysts, Cryptorchidism, Micrognat... |
OMIM:211750 |
| 15Q14 Microdeletion Syndrome |
|
Convex nasal ridge, Atrial septal defect, Cleft palate, Abnormality of the dentition, Short philt... |
ORPHA:261190 |
| Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Lumbar hyperlordosis, Hypoplastic sacrum, Osteoarthritis, Platyspondyly, Limited elbow extension,... |
OMIM:271650 |
| Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant |
|
Platyspondyly, Premature osteoarthritis |
OMIM:184840 |
| Mandibulofacial Dysostosis-Microcephaly Syndrome |
|
Accessory oral frenulum, Atrial septal defect, Cleft palate, Malar flattening, Micrognathia, Shor... |
ORPHA:79113 |
| Congenital Anomalies Of Kidney And Urinary Tract 3 |
|
Renal cyst, Vesicoureteral reflux, Ectopic kidney, Hydronephrosis |
OMIM:618270 |
| Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Cleft palate, Atrioventricular canal defect, Tracheoesophageal fistula, Ventricular septal defect... |
OMIM:265380 |
| Growth Retardation, Developmental Delay, And Facial Dysmorphism |
|
Alveolar ridge overgrowth, Cleft palate, Thin vermilion border, Retrognathia, Bifid uvula, Ventri... |
OMIM:612938 |
| Trigonocephaly With Short Stature And Developmental Delay |
|
High palate, Convex nasal ridge, Ventricular septal defect, Broad alveolar ridges, Wide nasal bridge |
OMIM:314320 |
| 20Q13.33 Microdeletion Syndrome |
|
Bulbous nose, Abnormal cardiac ventricle morphology, Atrial septal defect, Thin vermilion border,... |
ORPHA:261311 |
| Ohdo Syndrome |
|
Narrow mouth, Thin vermilion border, Depressed nasal bridge, Micrognathia, Long philtrum, Wide na... |
OMIM:249620 |
| Distal Trisomy 18Q |
|
High palate, Hypoplasia of penis, Micrognathia, Carious teeth, Short nose, Choanal atresia, Antev... |
ORPHA:1716 |
| Microcephaly-Cardiomyopathy Syndrome |
|
Ventricular septal defect, Dilated cardiomyopathy, High, narrow palate |
ORPHA:2515 |
| Mandibulofacial Dysostosis, Guion-Almeida Type |
|
Atrial septal defect, Cleft palate, Malar flattening, Micrognathia, Ventricular septal defect, De... |
OMIM:610536 |
| Congenital Alveolar Capillary Dysplasia |
|
Pulmonary valve atresia, Bicuspid aortic valve, Atrial septal defect, Aortic valve stenosis, Hypo... |
ORPHA:210122 |
| Atrial Septal Defect 8 |
|
Anomalous pulmonary venous return, Atrial septal defect |
OMIM:614433 |
| Kleefstra Syndrome |
|
Delayed eruption of teeth, Advanced eruption of teeth, Pyloric stenosis, Ventricular septal defec... |
ORPHA:261494 |
| Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome |
|
Microretrognathia, Atrial septal defect, Cleft palate, Intestinal malrotation, Broad nasal tip, D... |
ORPHA:457193 |
| Spondylometaphyseal Dysplasia, Axial |
|
Platyspondyly, Scoliosis, Reduced sperm motility |
OMIM:602271 |
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3 |
|
High palate, Restrictive cardiomyopathy, Abnormality of the dentition, Depressed nasal bridge, Lo... |
OMIM:615398 |
| Odontochondrodysplasia |
|
Dentinogenesis imperfecta, Retrognathia, Depressed nasal bridge, Micromelia, Delayed eruption of ... |
ORPHA:166272 |
| Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome |
|
Kyphosis, Hypoplastic vertebral bodies, Hemivertebrae, Scoliosis, Abnormal form of the vertebral ... |
ORPHA:2916 |
| Phaver Syndrome |
|
Depressed nasal bridge, Coarctation of aorta, Pulmonary artery atresia, Ventricular septal defect... |
ORPHA:2876 |
| Ferguson-Bonni Neurodevelopmental Syndrome |
|
Congenital diaphragmatic hernia, Coronary-pulmonary artery fistula, Patent foramen ovale |
OMIM:619699 |
| Rhizomelic Limb Shortening With Dysmorphic Features |
|
Stage 1 chronic kidney disease, Micrognathia, Long philtrum, Short 5th finger, Short thumb, Rhizo... |
OMIM:618821 |
| Noonan Syndrome 12 |
|
Lymphopenia, Decreased response to growth hormone stimulation test, 11 pairs of ribs, Tetralogy o... |
OMIM:618624 |
| 17P13.3 Microduplication Syndrome |
|
High palate, Narrow mouth, Hypoplasia of penis, Wide nose, Short nose |
ORPHA:217385 |
| Coffin-Siris Syndrome 6 |
|
Atrial septal defect, High, narrow palate, Cleft palate, Retrognathia, Broad nasal tip, Short phi... |
OMIM:617808 |
| Mosaic Variegated Aneuploidy Syndrome 2 |
|
Narrow mouth, Bulbous nose, Duodenal atresia, Atrial septal defect, Decreased response to growth ... |
OMIM:614114 |
| Orofaciodigital Syndrome Type 5 |
|
Accessory oral frenulum, Absent cupid's bow, Hypodontia, High, narrow palate, Supernumerary tooth... |
ORPHA:2919 |
| Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin |
|
Hiatus hernia, Persistence of primary teeth, Atrial septal defect, Persistence of hemoglobin F, R... |
OMIM:619769 |
| Ehlers-Danlos Syndrome, Musculocontractural Type, 2 |
|
High palate, Narrow mouth, Long philtrum, Mitral valve prolapse, Short nose, Patent foramen ovale... |
OMIM:615539 |
| Abruzzo-Erickson Syndrome |
|
Short toe, Atrial septal defect, Malar flattening, Cleft palate, Hypospadias, Coronal hypospadias... |
ORPHA:921 |
| Developmental And Speech Delay Due To Sox5 Deficiency |
|
Butterfly vertebrae, Lumbar hyperlordosis, Scoliosis, Thoracic kyphoscoliosis, Vertebral fusion |
ORPHA:313892 |
| Trigonocephaly-Short Stature-Developmental Delay Syndrome |
|
High palate, Ventricular septal defect, Broad secondary alveolar ridge, Large beaked nose, Wide n... |
ORPHA:3369 |
| Diprosopus |
|
Abnormality of the nose, Abnormal cardiac septum morphology, Cleft palate, Non-midline cleft lip |
ORPHA:1681 |
| Spondylometaphyseal Dysplasia, 'Corner Fracture' Type |
|
