| Genitopalatocardiac Syndrome |
|
Ventricular septal defect, Micrognathia, Double outlet right ventricle, Renal cyst, Cleft upper l... |
OMIM:231060 |
| Conotruncal Heart Malformations |
|
Truncus arteriosus, Complete atrioventricular canal defect, Double outlet right ventricle, Coarct... |
OMIM:217095 |
| Thymic Aplasia With Fetal Death |
|
Renal agenesis, Truncus arteriosus, Ureteral agenesis |
OMIM:274210 |
| Congenital Heart Defects, Multiple Types, 6 |
|
Hypoplastic pulmonary veins, Single ventricle, Ventricular septal defect, Complete atrioventricul... |
OMIM:613854 |
| Spondylocamptodactyly Syndrome |
|
Scoliosis, Platyspondyly, Camptodactyly of finger |
ORPHA:3180 |
| Heterotaxy, Visceral, 4, Autosomal |
|
Ventricular septal defect, Dextrocardia, Atrioventricular canal defect, Right aortic arch, Ectopi... |
OMIM:613751 |
| Fallot Complex With Severe Mental And Growth Retardation |
|
Pulmonic stenosis, Tetralogy of Fallot, Double outlet right ventricle, Ventricular septal defect |
OMIM:601127 |
| Cleft-Limb-Heart Malformation Syndrome |
|
Truncus arteriosus |
OMIM:215850 |
| Atrioventricular Septal Defect, Susceptibility To, 2 |
|
Pulmonary artery atresia, Right aortic arch with mirror image branching, Dextrocardia, Atrioventr... |
OMIM:606217 |
| Spondyloepiphyseal Dysplasia, Maroteaux Type |
|
Platyspondyly, Genu valgum |
OMIM:184095 |
| 14Q24.1Q24.3 Microdeletion Syndrome |
|
Long philtrum, Cryptorchidism, Atrial septal defect, Truncus arteriosus, Short nose, Ventricular ... |
ORPHA:401935 |
| Osteoarthritis With Mild Chondrodysplasia |
|
Platyspondyly, Beaking of vertebral bodies, Hip osteoarthritis, Irregular vertebral endplates, Sc... |
OMIM:604864 |
| Sacral Agenesis With Vertebral Anomalies |
|
Absence of the sacrum, Abnormal vertebral morphology |
OMIM:615709 |
| Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
|
Truncus arteriosus, Coarctation of aorta, Patent ductus arteriosus, Bicuspid aortic valve, Transp... |
OMIM:612474 |
| Second Metatarsal-Metacarpal Syndrome |
|
Platyspondyly, Synostosis of carpals/tarsals |
OMIM:269630 |
| Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities |
|
Renal hypoplasia, Truncus arteriosus, Renal cyst, Ventricular septal defect |
OMIM:228940 |
| Congenital Heart Defects, Multiple Types, 4 |
|
Ventricular septal defect, Aortic valve stenosis, Hypoplastic left heart, Coarctation of aorta, A... |
OMIM:615779 |
| Familial Scheuermann Disease |
|
Kyphosis, Abnormal form of the vertebral bodies |
ORPHA:3135 |
| Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs |
|
Truncus arteriosus, Underdeveloped nasal alae, Ventricular septal defect, Unilateral renal agenes... |
OMIM:601355 |
| Spondylocamptodactyly |
|
Scoliosis, Camptodactyly of finger, Camptodactyly, Cervical platyspondyly |
OMIM:600000 |
| Brachyolmia Type 2 |
|
Platyspondyly |
OMIM:613678 |
| Vertebral Fusion, Posterior Lumbosacral, With Blepharoptosis |
|
Posterior fusion of lumbosacral vertebrae |
OMIM:192800 |
| Chromosome 22Q11.2 Deletion Syndrome, Distal |
|
Truncus arteriosus, Underdeveloped nasal alae, Smooth philtrum, Thin upper lip vermilion, Cleft p... |
OMIM:611867 |
| Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome |
|
Truncus arteriosus, Underdeveloped nasal alae, Ventricular septal defect, Abnormal aortic morphol... |
ORPHA:2516 |
| Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome |
|
Tarsal synostosis, Abnormal form of the vertebral bodies, Posterior fusion of lumbosacral vertebr... |
ORPHA:2064 |
| Right Atrial Isomerism |
|
Right atrial isomerism, Situs inversus totalis, Single ventricle, Atrial septal defect, Ventricul... |
OMIM:208530 |
| Heterotaxy, Visceral, 7, Autosomal |
|
Atrial septal defect, Situs inversus totalis, Interrupted aortic arch, Abnormal tricuspid valve m... |
OMIM:616749 |
| Spondyloepiphyseal Dysplasia Tarda With Mental Retardation |
|
Anterior beaking of lumbar vertebrae, Platyspondyly |
OMIM:271620 |
| Cervical Vertebral Dysplasia |
|
Cervical vertebral facet hypoplasia, Cervical vertebral dysplasia, Anterior atlanto-occipital dis... |
OMIM:118005 |
| Cayler Cardiofacial Syndrome |
|
Tetralogy of Fallot, Patent ductus arteriosus, Ventricular septal defect |
OMIM:125520 |
| Spondyloepiphyseal Dysplasia, Kimberley Type |
|
Platyspondyly, Genu valgum, Delayed skeletal maturation, Genu varum |
OMIM:608361 |
| Microcephaly With Cervical Spine Fusion Anomalies |
|
Vertebral fusion, Spinal instability |
OMIM:251250 |
| Congenital Heart Defects, Multiple Types, 5 |
|
Atrial septal defect, Ventricular septal defect, Aortic valve stenosis, Double outlet right ventr... |
OMIM:617912 |
| Spondyloepiphyseal Dysplasia Tarda, Kohn Type |
|
Abnormality of the knee, Platyspondyly, Abnormal vertebral morphology, Restricted large joint mov... |
ORPHA:163665 |
| Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3 |
|
Anomalous origin of left coronary artery from the pulmonary artery, Bilateral renal agenesis, Pat... |
OMIM:618845 |
| Tricuspid Atresia |
|
Tricuspid atresia, Atrial septal defect, Patent foramen ovale, Ventricular septal defect, Persist... |
ORPHA:1209 |
| Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type |
|
Scoliosis, Platyspondyly, Genu valgum, Decreased hip abduction, Thoracic kyphosis, Irregular vert... |
OMIM:609223 |
| Aortic Arch Anomaly With Peculiar Facies And Mental Retardation |
|
Right aortic arch with mirror image branching |
OMIM:107500 |
| Spondyloepiphyseal Dysplasia, Stanescu Type |
|
Platyspondyly, Beaking of vertebral bodies, Joint stiffness, Kyphoscoliosis, Stiff neck |
OMIM:616583 |
| Atrial Septal Defect 2 |
|
Atrioventricular canal defect, Atrial septal defect, Ventricular septal defect |
OMIM:607941 |
| Autosomal Dominant Brachyolmia |
|
Platyspondyly, Increased vertebral height, Kyphoscoliosis |
ORPHA:93304 |
| Congenital Heart Defects, Multiple Types, 7 |
|
Aortopulmonary collateral arteries, Double aortic arch, Pulmonic stenosis, Absence of the pulmona... |
OMIM:618780 |
| Lymphedema, Cardiac Septal Defects, And Characteristic Facies |
|
Hydrocele testis, Atrial septal defect, Broad nasal tip, Ventricular septal defect, Patent ductus... |
OMIM:601927 |
| Cardioacrofacial Dysplasia 2 |
|
Short philtrum, Accessory oral frenulum, Deep philtrum, Mandibular prognathia, Conical tooth, Hyp... |
OMIM:619143 |
| Heterotaxy, Visceral, 8, Autosomal |
|
Unbalanced atrioventricular canal defect, Ventricular septal defect, Atrial situs ambiguous, Doub... |
OMIM:617205 |
| Testicular Anomalies With Or Without Congenital Heart Disease |
|
Perineal hypospadias, Tetralogy of Fallot, Microphallus, Micropenis |
OMIM:615542 |
| Double Outlet Right Ventricle |
|
Truncus arteriosus, Narrow mouth, Ventricular septal defect, Intestinal malrotation, Aplasia/Hypo... |
ORPHA:3426 |
| Morquio Syndrome C |
|
Platyspondyly |
OMIM:252300 |
| Spondylocostal Dysostosis 1, Autosomal Recessive |
|
Back pain, Hemivertebrae, Vertebral fusion, Abnormality of the odontoid process, Kyphoscoliosis, ... |
OMIM:277300 |
| Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly |
|
Complete atrioventricular canal defect, Subvalvular aortic stenosis, Coarctation of aorta |
OMIM:217085 |
| 14Q11.2 Microdeletion Syndrome |
|
Long philtrum, Narrow mouth, Short nose, Ventricular septal defect, High palate, Everted lower li... |
ORPHA:261120 |
| Johnson Neuroectodermal Syndrome |
|
Carious teeth, Choanal stenosis, Ventricular septal defect, Anosmia, Patent ductus arteriosus, Cl... |
OMIM:147770 |
| Partial Atrioventricular Septal Defect |
|
Anomalous pulmonary venous return, Abnormal tricuspid valve morphology, Coarctation of aorta, Pat... |
ORPHA:1330 |
| Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Situs inversus totalis, Truncus arteriosus, Enlarged kidney, Cystic renal dysplasia, Pulmonic ste... |
OMIM:615415 |
| Microphthalmia, Syndromic 9 |
|
Cryptorchidism, Single ventricle, Patent ductus arteriosus, Multilobulated spleen, Pelvic kidney,... |
OMIM:601186 |
| Venous Malformations, Multiple Cutaneous And Mucosal |
|
Venous malformation, Abnormality of the mouth, Intestinal bleeding |
OMIM:600195 |
| Structural Heart Defects And Renal Anomalies Syndrome |
|
Tricuspid atresia, Atrial septal defect, Truncus arteriosus, Interrupted aortic arch, Ventricular... |
OMIM:617478 |
| Spondylocostal Dysostosis 6, Autosomal Recessive |
|
Scoliosis, Hemivertebrae, Cervical kyphosis, Spinal canal stenosis, Butterfly vertebrae |
OMIM:616566 |
| Brachyolmia, Maroteaux Type |
|
Scoliosis, Platyspondyly, Abnormal form of the vertebral bodies |
ORPHA:93302 |
| Ciliary Dyskinesia, Primary, 37 |
|
Situs inversus totalis, Goiter, Bronchiectasis, Hypothyroidism, Dextrocardia, Chronic rhinitis, R... |
OMIM:617577 |
| Brachyolmia Type 1, Hobaek Type |
|
Scoliosis, Kyphosis, Back pain, Osteopenia, Flat acetabular roof, Intervertebral space narrowing,... |
OMIM:271530 |
| Ciliary Dyskinesia, Primary, 39 |
|
Dextrocardia, Double outlet right ventricle |
OMIM:618254 |
| Adams-Oliver Syndrome 6 |
|
Renal hypoplasia, Truncus arteriosus, Ventricular septal defect |
OMIM:616589 |
| Pierre Robin Syndrome |
|
Pierre-Robin sequence, Cor pulmonale, Glossoptosis, Cleft palate, Micrognathia |
OMIM:261800 |
| Multiple Synostoses Syndrome 2 |
|
Humeroradial synostosis, Tarsal synostosis, Proximal symphalangism, Vertebral fusion, Finger symp... |
OMIM:610017 |
| Hypomandibular Faciocranial Dysostosis |
|
Pursed lips, Atrial septal defect, Aglossia, Choanal stenosis, Patent ductus arteriosus, Microgna... |
OMIM:241310 |
| Spondyloepimetaphyseal Dysplasia, Di Rocco Type |
|
Irregular acetabular roof, Platyspondyly, Genu varum, Delayed ossification of carpal bones |
OMIM:617974 |
| Emanuel Syndrome |
|
Long philtrum, Delayed eruption of primary teeth, Atrial septal defect, Truncus arteriosus, Crypt... |
OMIM:609029 |
| Velocardiofacial Syndrome |
|
Right aortic arch with mirror image branching, Cryptorchidism, Bulbous nose, Interrupted aortic a... |
OMIM:192430 |
| Ectrodactyly Of Lower Limbs, Congenital Heart Defect, And Micrognathia |
|
Tetralogy of Fallot, Micrognathia, Hypoplastic right heart, Ventricular septal defect |
OMIM:601348 |
| Truncus Arteriosus |
|
Abnormal coronary artery morphology, Patent ductus arteriosus, Cardiomegaly, Pulmonary artery ste... |
ORPHA:3384 |
| Epiphyseal Dysplasia, Multiple, 7 |
|
Platyspondyly, Flat acetabular roof, Genu varum, Advanced ossification of carpal bones, Vertebral... |
OMIM:617719 |
| Heterotaxy, Visceral, 1, X-Linked |
|
Posteriorly placed anus, Atrial septal defect, Horseshoe kidney, Single ventricle, Ventricular se... |
OMIM:306955 |
| Brachydactylous Dwarfism, Mseleni Type |
|
Platyspondyly, Osteoarthritis of the elbow, Protrusio acetabuli, Stiff shoulders, Hip osteoarthri... |
ORPHA:2619 |
| Klippel-Feil Syndrome 3, Autosomal Dominant |
|
Cervical C5/C6 vertebrae fusion, Cervical C3/C4 vertebral fusion, Thoracic scoliosis |
OMIM:613702 |
| Tetralogy Of Fallot |
|
Tetralogy of Fallot |
OMIM:187500 |
| Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta |
|
Anomalous origin of right pulmonary artery from ascending aorta, Atrial septal defect, Anomalous ... |
ORPHA:99050 |
| Autosomal Dominant Coarctation Of Aorta |
|
Ventricular septal defect, Abnormal aortic arch morphology, Patent ductus arteriosus, Hypoplastic... |
ORPHA:1455 |
| Pseudodiastrophic Dysplasia |
|
Scoliosis, Platyspondyly, Phalangeal dislocation, Elbow dislocation |
ORPHA:85174 |
| Cortical Blindness, Retardation, And Postaxial Polydactyly |
|
Microretrognathia, Long philtrum, Short nose |
OMIM:218010 |
| Sonoda Syndrome |
|
Depressed nasal bridge, Narrow mouth, Ventricular septal defect |
OMIM:270460 |
| Congenital Absence Of Upper Arm And Forearm With Hand Present |
|
Abnormal lung morphology, Congenital malformation of the great arteries, Abnormal heart morpholog... |
ORPHA:294975 |
| Renal Tubular Dysgenesis |
|
Multiple renal cysts, Proximal tubulopathy, Renotubular dysgenesis, Nephropathy, Tetralogy of Fallot |
ORPHA:3033 |
| 17Q21.31 Microduplication Syndrome |
|
Short philtrum, Short nose, Abnormality of the dentition, Malar flattening, Delayed puberty, High... |
ORPHA:217340 |
| Coarctation Of Aorta |
|
Hypoplastic left heart, Coarctation of aorta |
OMIM:120000 |
| Cleft Palate-Short Stature-Vertebral Anomalies Syndrome |
|
Short nose, Thin upper lip vermilion, Cleft palate, Micrognathia, Anteverted nares |
ORPHA:2015 |
| Acitretin/Etretinate Embryopathy |
|
Aplasia/hypoplasia involving bones of the upper limbs, Hypoplastic nasal septum, Median cleft pal... |
ORPHA:40366 |
| Stankiewicz-Isidor Syndrome |
|
Cryptorchidism, Truncus arteriosus, Pineal cyst, Ventricular septal defect, Ureteral duplication,... |
OMIM:617516 |
| Osteomesopyknosis |
|
Scoliosis, Sclerotic vertebral body, Abnormal form of the vertebral bodies, Kyphosis, Increased b... |
ORPHA:2777 |
| Tetralogy Of Fallot And Glaucoma |
|
Tetralogy of Fallot |
OMIM:187501 |
| Congenital Unilateral Hypoplasia Of Depressor Anguli Oris |
|
Cryptorchidism, Multiple renal cysts, Ventricular septal defect, Micrognathia, Abnormal aortic mo... |
ORPHA:1166 |
| Burn-Mckeown Syndrome |
|
Short nose, Abnormal palate morphology, Bilateral choanal atresia, Wide nasal bridge, Abnormal ca... |
ORPHA:1200 |
| Pulmonary Atresia With Ventricular Septal Defect |
|
Pulmonary artery atresia, Ventricular septal defect |
OMIM:178370 |
| Porencephaly, Cerebellar Hypoplasia, And Internal Malformations |
|
Tetralogy of Fallot, Atrial septal defect, Situs inversus totalis |
OMIM:601322 |
| Familial Aortic Dissection |
|
Descending thoracic aorta aneurysm, Carotid artery dilatation, Patent ductus arteriosus, Coronary... |
ORPHA:229 |
| Primary Basilar Invagination |
|
Abnormality of the cervical spine, Short neck, Abnormal vertebral morphology |
ORPHA:2285 |
| Scimitar Syndrome |
|
Single ventricle, Patent ductus arteriosus, Left superior vena cava draining to coronary sinus, D... |
ORPHA:185 |
| Dysspondyloenchondromatosis |
|
Scoliosis, Platyspondyly, Genu valgum, Enlarged joints, Anisospondyly, Generalized joint laxity, ... |
ORPHA:85198 |
| Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome |
|
Pseudocoarctation of the aorta, Patent ductus arteriosus, Bicuspid aortic valve |
ORPHA:228190 |
| Lethal Congenital Contracture Syndrome 10 |
|
Long philtrum, Narrow palate, Ventricular septal defect, Hypoplasia of the thymus, Pulmonary hypo... |
OMIM:617022 |
| Bruck Syndrome 1 |
|
Scoliosis, Platyspondyly, Osteoporosis, Protrusio acetabuli, Joint laxity, Kyphosis, Pterygium, I... |
OMIM:259450 |
| White Forelock With Malformations |
|
Aplasia/Hypoplasia of the distal phalanges of the toes, Atrial septal defect, Bronchomalacia, Pro... |
OMIM:277740 |
| 22Q11.2 Duplication Syndrome |
|
Interrupted aortic arch, Ventricular septal defect, Depressed nasal ridge, Displacement of the ur... |
ORPHA:1727 |
| Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive |
|
Hip osteoarthritis, Platyspondyly, Osteoarthritis |
OMIM:271600 |
| Acrocardiofacial Syndrome |
|
Cryptorchidism, Atrial septal defect, Truncus arteriosus, Ventricular septal defect, Wide nasal b... |
ORPHA:2008 |
| Fetal Minoxidil Syndrome |
|
Cryptorchidism, Micrognathia, Depressed nasal bridge, Ventricular septal defect |
ORPHA:1918 |
| Fetal Trimethadione Syndrome |
|
Atrial septal defect, Short nose, Ventricular septal defect, Hypospadias, High palate, Tetralogy ... |
ORPHA:1913 |
| Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B |
|
Scoliosis, Tarsal synostosis, Flexion contracture, Fused thoracic vertebrae, Antecubital pterygiu... |
OMIM:618469 |
| Emanuel Syndrome |
|
Cryptorchidism, Dental crowding, Submucous cleft lip, Patent ductus arteriosus, Broad jaw, High p... |
ORPHA:96170 |
| Burn-Mckeown Syndrome |
|
Thin vermilion border, Atrial septal defect, Short philtrum, Narrow mouth, Underdeveloped nasal a... |
OMIM:608572 |
| Diamond-Blackfan Anemia 6 |
|
Atrial septal defect, Ventricular hypertrophy, Macrocytic anemia, Persistence of hemoglobin F, Ve... |
OMIM:612561 |
| Adams-Oliver Syndrome 4 |
|
Short toe, Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect |
OMIM:615297 |
| Brachyolmia Type 1, Toledo Type |
|
Back pain, Irregular vertebral endplates, Intervertebral space narrowing, Precocious costochondra... |
OMIM:271630 |
| Kallmann Syndrome-Heart Disease Syndrome |
|
Anomalous origin of left coronary artery from the pulmonary artery, Midgut malrotation, Pulmonary... |
ORPHA:2326 |
| Cardiac, Facial, And Digital Anomalies With Developmental Delay |
|
Abnormal heart morphology, Patent ductus arteriosus, Pulmonic stenosis, Double outlet right ventr... |
OMIM:618164 |
| Pseudotrisomy 13 Syndrome |
|
Tricuspid atresia, Atrial septal defect, Ventricular septal defect, Renal hypoplasia, Complete at... |
OMIM:264480 |
| Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 |
|
Atrial septal defect, Vascular ring, Ventricular septal defect |
OMIM:603387 |
| Osteogenesis Imperfecta, Type V |
|
Platyspondyly, Wormian bones, Joint hypermobility, Biconcave vertebral bodies, Recurrent fracture... |
OMIM:610967 |
| 8P23.1 Duplication Syndrome |
|
Long philtrum, Ventricular septal defect, Thick vermilion border, Pulmonic stenosis, Adrenal insu... |
ORPHA:251076 |
| Heart Defects-Limb Shortening Syndrome |
|
Atrial septal defect, Abnormal mitral valve morphology, Abnormal tricuspid valve morphology, Vent... |
ORPHA:1354 |
| Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Cryptorchidism, Erythroid hypoplasia, Atrial septal defect, Monocytosis, Lymphopenia, Patent duct... |
OMIM:612541 |
| Atrial Septal Defect 4 |
|
Patent foramen ovale, Atrial septal defect, Coarctation of aorta |
OMIM:611363 |
| Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies |
|
Pseudocoarctation of the aorta, Patent ductus arteriosus, Bicuspid aortic valve |
OMIM:604381 |
| Ellis-Van Creveld Syndrome |
|
Delayed eruption of teeth, Cryptorchidism, Atrial septal defect, Natal tooth, Short ribs, Hypodon... |
OMIM:225500 |
| Ritscher-Schinzel Syndrome 1 |
|
Atrial septal defect, Adrenal hypoplasia, Ventricular septal defect, Pulmonic stenosis, Aortic va... |
OMIM:220210 |
| Craniostenosis, Sagittal, With Congenital Heart Disease, Mental Deficiency, And Mandibular Ankylosis |
|
Cryptorchidism, Microphallus, Abnormal heart morphology, Trismus, Abnormal tracheobronchial morph... |
OMIM:218450 |
| Pallister-Hall-Like Syndrome |
|
Short nose, Abnormal heart morphology, Micromelia, Short ribs, Microglossia, Pulmonary hypoplasia... |
OMIM:241800 |
| Heterotaxy, Visceral, 2, Autosomal |
|
Situs inversus totalis, Dextrocardia, Double outlet right ventricle, Mesocardia, Left atrial isom... |
OMIM:605376 |
| Aorto-Ventricular Tunnel |
|
Abnormal coronary artery morphology, Ventricular hypertrophy, Abnormal heart valve morphology, Ab... |
ORPHA:3400 |
| Mmep Syndrome |
|
Cryptorchidism, Ventricular septal defect, Mandibular prognathia, Oral cleft, Median cleft lip |
ORPHA:3434 |
| Transposition Of The Great Arteries, Dextro-Looped 1 |
|
Transposition of the great arteries |
OMIM:608808 |
| Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome |
|
Abnormal cardiac septum morphology, Neonatal death, Patent ductus arteriosus, Coarctation of aorta |
OMIM:601612 |
| Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant |
|
Platyspondyly, Knee pain, Irregular vertebral endplates, Lumbar hyperlordosis, Cervical subluxati... |
OMIM:184100 |
| Tetraamelia Syndrome 2 |
|
Hypoplastic pulmonary veins, Ankyloglossia, Ventricular septal defect, Microretrognathia, Glossop... |
OMIM:618021 |
| Cardioacrofacial Dysplasia 1 |
|
Atrioventricular canal defect, Complete atrioventricular canal defect |
OMIM:619142 |
| Deafness, Congenital Heart Defects, And Posterior Embryotoxon |
|
Tetralogy of Fallot, Peripheral pulmonary artery stenosis, Ventricular septal defect |
OMIM:617992 |
| Von Willebrand Disease |
|
Venous insufficiency, Abnormal mitral valve morphology |
ORPHA:903 |
| Catel-Manzke Syndrome |
|
Atrial septal defect, Ventricular septal defect, Glossoptosis, Oral synechia, Cleft palate, Micro... |
ORPHA:1388 |
| Hadziselimovic Syndrome |
|
Prominent nasal bridge, Atrial septal defect, Ventricular hypertrophy, Ventricular septal defect,... |
OMIM:612946 |
| Osteogenesis Imperfecta With Opalescent Teeth, Blue Sclerae And Wormian Bones, But Without Fractures |
|
Wormian bones, Moderate generalized osteoporosis, Biconcave flattened vertebrae, Abnormal joint m... |
OMIM:166230 |
| Atrial Septal Defect 5 |
|
Atrial septal defect |
OMIM:612794 |
| Aortic Valve Disease 1 |
|
Mitral atresia, Ventricular septal defect, Aortic valve stenosis, Double outlet right ventricle, ... |
OMIM:109730 |
| Nephronophthisis 16 |
|
Nephronophthisis, Situs inversus totalis, Enlarged kidney, Patent ductus arteriosus, Pulmonic ste... |
OMIM:615382 |
| Immunodeficiency, Developmental Delay, And Hypohomocysteinemia |
|
Atrial septal defect, Recurrent respiratory infections, Abnormal heart morphology |
OMIM:617744 |
| Distal Trisomy 14Q |
|
Abnormal aortic morphology, Patent ductus arteriosus, Abnormality of the upper urinary tract |
ORPHA:1705 |
| Microphthalmia, Syndromic 12 |
|
Cryptorchidism, Ventricular septal defect, Hypoplastic left atrium, Wide nasal bridge, Pulmonary ... |
OMIM:615524 |
| 8p23.1 deletion syndrome |
|
Atrioventricular canal defect, Atrial septal defect, Abnormal heart morphology |
DECIPHER:39 |
| Ventricular Septal Defect 3 |
|
Atrial septal defect, Patent ductus arteriosus, Pulmonary artery stenosis, Ventricular septal defect |
OMIM:614432 |
| Indomethacin Embryofetopathy |
|
Abnormal renal tubule morphology, Atrial septal defect, Ventricular septal defect, Nephropathy, M... |
ORPHA:1909 |
| Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2 |
|
Short nose, Pneumonia, High palate, Retrognathia, Anteverted nares, Chronic bronchitis, Depressed... |
OMIM:614069 |
| Recombinant Chromosome 8 Syndrome |
|
Cryptorchidism, Atrial septal defect, Downturned corners of mouth, Ventricular septal defect, Pat... |
OMIM:179613 |
| Spondylometaphyseal Dysplasia, A4 Type |
|
Platyspondyly, Limitation of joint mobility |
ORPHA:168555 |
| Spondyloepiphyseal Dysplasia, Kimberley Type |
|
Platyspondyly, Osteoarthritis |
ORPHA:93283 |
| Pseudoachondroplasia |
|
Scoliosis, Irregular carpal bones, Joint laxity, Flat acetabular roof, Joint stiffness, Acetabula... |
ORPHA:750 |
| Spinal Muscular Atrophy, Type I |
|
Tongue fasciculations, Atrial septal defect, Recurrent respiratory infections, Ventricular septal... |
OMIM:253300 |
| X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome |
|
Scoliosis, Fused cervical vertebrae, Abnormal sacrum morphology, Thoracic hemivertebrae |
ORPHA:1436 |
| Brachydactyly-Mesomelia-Intellectual Disability-Heart Defects Syndrome |
|
Convex nasal ridge, Abnormal mitral valve morphology, Abnormal palate morphology, Mesomelia, Toot... |
ORPHA:1277 |
| 16P13.11 Microduplication Syndrome |
|
Atrial septal defect, Ventricular septal defect, Coarctation of aorta, Tetralogy of Fallot, Trans... |
ORPHA:261243 |
| Monosomy 13Q34 |
|
Epistaxis, Pulmonic stenosis, Broad nasal tip, Micrognathia, Prominent nasal bridge, Common atriu... |
ORPHA:96168 |
| Hamel Cerebro-Palato-Cardiac Syndrome |
|
Atrial septal defect, Narrow mouth, Bulbous nose, Wide nasal bridge, Cleft palate, Micrognathia, ... |
ORPHA:93946 |
| Combined Oxidative Phosphorylation Deficiency 25 |
|
Long philtrum, Short nose, Decreased response to growth hormone stimuation test, Vascular dilatat... |
OMIM:616430 |
| Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies |
|
Atrial septal defect, Patent foramen ovale, Ventricular septal defect, Patent ductus arteriosus, ... |
OMIM:618316 |
| Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe |
|
Right aortic arch, Coarctation of aorta |
OMIM:140850 |
| Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Convex nasal ridge, Carious teeth, Narrow mouth, Downturned corners of mouth, Abnormal aortic arc... |
ORPHA:1110 |
| Alagille Syndrome 2 |
|
Atrial septal defect, Hematuria, Renal hypoplasia, Peripheral pulmonary artery stenosis, Renal tu... |
OMIM:610205 |
| Spondyloepimetaphyseal Dysplasia, Handigodu Type |
|
Abnormality of the knee, Platyspondyly, Hip subluxation, Protrusio acetabuli, Abnormality of the ... |
ORPHA:99642 |
| Spondylometaphyseal Dysplasia, Schmidt Type |
|
Platyspondyly, Genu valgum, Joint dislocation, Abnormality of the wrist, Kyphoscoliosis |
ORPHA:93316 |
| Lethal Osteosclerotic Bone Dysplasia |
|
Mandibular aplasia, Median cleft lip and palate, Gingival fibromatosis, Short nose, Gingival over... |
ORPHA:1832 |
| Spondylocostal Dysostosis 5 |
|
Scoliosis, Low back pain, Hemivertebrae, Vertebral fusion, Short neck, Butterfly vertebrae |
OMIM:122600 |
| Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation |
|
Short philtrum, Atrial septal defect, Ventricular septal defect, Micrognathia, Thick lower lip ve... |
OMIM:608227 |
| Hypoplastic Left Heart Syndrome |
|
Atrial septal defect, Mitral atresia, Patent ductus arteriosus, Hypoplastic aortic arch, Hypoplas... |
ORPHA:2248 |
| Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type |
|
Scoliosis, Platyspondyly, Genu varum |
OMIM:618728 |
| Mesoaxial Hexadactyly And Cardiac Malformation |
|
Atrial septal defect, Ventricular septal defect, Everted lower lip vermilion, Patent ductus arter... |
OMIM:249670 |
| Hypoplastic Left Heart Syndrome 1 |
|
Aortic valve stenosis, Hypoplastic left heart, Coarctation of aorta |
OMIM:241550 |
| Mental Retardation, X-Linked 91 |
|
Short nose, Small hand, Short foot, High palate, Short 5th finger, Macrodontia |
OMIM:300577 |
| Progressive Pseudorheumatoid Arthropathy Of Childhood |
|
Scoliosis, Irregularity of vertebral bodies, Abnormal hip joint morphology, Joint swelling, Enlar... |
ORPHA:1159 |
| Aorta Coarctation |
|
Abnormal left ventricular outflow tract morphology, Aortic valve atresia, Patent ductus arteriosu... |
ORPHA:1457 |
| Congenital Heart Defects, Multiple Types, 3 |
|
Persistent left superior vena cava, Tetralogy of Fallot, Atrial septal defect, Abnormal heart mor... |
OMIM:614954 |
| Phenobarbital Embryopathy |
|
Hypospadias, Tetralogy of Fallot, Abnormal mitral valve morphology |
ORPHA:1919 |
| Spondylocostal Dysostosis 4, Autosomal Recessive |
|
Hemivertebrae, Vertebral fusion, Abnormality of the odontoid process, Spina bifida occulta, Block... |
OMIM:613686 |
| Chromosome 15Q14 Deletion Syndrome |
|
Short philtrum, Atrial septal defect, Ventricular septal defect, Everted lower lip vermilion, Ten... |
OMIM:616898 |
| Congenital Heart Defect-Round Face-Developmental Delay Syndrome |
|
Narrow mouth, Short nose, Hypospadias, Depressed nasal ridge, Abnormal oral cavity morphology, An... |
ORPHA:1355 |
| Fallot Complex-Intellectual Disability-Growth Delay Syndrome |
|
Cryptorchidism, Atrial septal defect, Patent ductus arteriosus, Thin upper lip vermilion, Pulmoni... |
ORPHA:3304 |
| Heart Defects, Congenital, And Other Congenital Anomalies |
|
Patent ductus arteriosus, Intestinal malrotation, Pancreatic hypoplasia, Microcolon, Pulmonary ar... |
OMIM:600001 |
| Faciocardiomelic Syndrome |
|
Long philtrum, Hyperplasia of the maxilla, Wide mouth, Dental malocclusion, Micrognathia, Antever... |
OMIM:612731 |
| Immunodeficiency 42 |
|
Hypoplasia of the thymus |
OMIM:616622 |
| Distal 7Q11.23 Microdeletion Syndrome |
|
Atrial septal defect, Patent ductus arteriosus |
ORPHA:254351 |
| Spondylometaphyseal Dysplasia, X-Linked |
|
Platyspondyly, Enlarged joints, Kyphosis, Thoracolumbar scoliosis, Knee flexion contracture, Hip ... |
OMIM:313420 |
| Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes |
|
Platyspondyly, Lumbar scoliosis, Irregular vertebral endplates, Kyphoscoliosis |
OMIM:612847 |
| Megabladder, Congenital |
|
Atrial septal defect, Left ventricular noncompaction cardiomyopathy, Ventricular septal defect, P... |
OMIM:618719 |
| Spondylocostal Dysostosis 3, Autosomal Recessive |
|
Scoliosis, Supernumerary vertebral ossification centers, Kyphosis, Vertebral segmentation defect,... |
OMIM:609813 |
| Gm1-Gangliosidosis, Type Iii |
|
Scoliosis, Platyspondyly, Kyphosis, Anterior beaking of lumbar vertebrae, Hypoplastic acetabulae |
OMIM:230650 |
| Maxillonasal Dysplasia |
|
Open bite, Short nose, Depressed nasal ridge, Hypoplasia of the maxilla, Short columella, Mandibu... |
ORPHA:1248 |
| Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Urethral atresia, Enlarged kidney, Hydronephrosis, Atrioventricular canal defect, Transposition o... |
OMIM:314390 |
| Pierre Robin Syndrome And Oligodactyly |
|
Pierre-Robin sequence, Micrognathia, Hand oligodactyly, Cleft palate |
OMIM:172880 |
| Epiphyseal Dysplasia, Multiple, With Severe Proximal Femoral Dysplasia |
|
Platyspondyly, Irregularity of vertebral bodies, Genu valgum |
OMIM:609324 |
| Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Hypoplasia of the thymus, Lymphopenia |
OMIM:200900 |
| Isolated Dandy-Walker Malformation |
|
Tetralogy of Fallot, Cleft palate |
ORPHA:217 |
| Infections, Recurrent, With Encephalopathy, Hepatic Dysfunction, And Cardiovascular Malformations |
|
Pulmonary artery atresia, Left superior vena cava draining directly to the left atrium, Howell-Jo... |
OMIM:613759 |
| Mental Retardation, Skeletal Dysplasia, And Abducens Palsy |
|
Scoliosis, Fused cervical vertebrae, Prominent metopic ridge, Thoracic hemivertebrae |
OMIM:309620 |
| Digeorge Syndrome |
|
Right aortic arch with mirror image branching, Short philtrum, Decreased circulating parathyroid ... |
OMIM:188400 |
| Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A |
|
Scoliosis, Multiple pterygia, Craniosynostosis, Arthrogryposis multiplex congenita, Tarsal synost... |
OMIM:178110 |
| Congenital Heart Defects, Multiple Types, 2 |
|
Abnormal left ventricular outflow tract morphology, Subvalvular aortic stenosis, Ventricular sept... |
OMIM:614980 |
| Microgastria-Limb Reduction Defects Association |
|
Cryptorchidism, Hypoplasia of the radius, Horseshoe kidney, Cystic renal dysplasia, Secundum atri... |
OMIM:156810 |
| Chromosome 16P13.3 Duplication Syndrome |
|
Atrial septal defect, Short nose, Bulbous nose, Ventricular septal defect, Short toe, Malar flatt... |
OMIM:613458 |
| Coffin-Siris Syndrome 10 |
|
Ventricular septal defect, Wide mouth, Persistence of primary teeth, Laryngomalacia, Anteverted n... |
OMIM:618506 |
| Mental Retardation, Autosomal Dominant 21 |
|
Long philtrum, Thin vermilion border, Atrial septal defect, Cryptorchidism, Narrow mouth, Patent ... |
OMIM:615502 |
| Cardiomyopathy-Cataract-Hip Spine Disease Syndrome |
|
Platyspondyly, Abnormality of the intervertebral disk, Joint stiffness, Avascular necrosis, Osteo... |
ORPHA:1345 |
| Chromosome 14Q11-Q22 Deletion Syndrome |
|
Long philtrum, Cryptorchidism, Narrow mouth, Short nose, Ventricular septal defect, Patent ductus... |
OMIM:613457 |
| Osteogenesis Imperfecta, Type Vi |
|
Protrusio acetabuli, Joint laxity, Biconcave vertebral bodies, Beaking of vertebral bodies, Incre... |
OMIM:613982 |
| Congenital Heart Defects And Skeletal Malformations Syndrome |
|
Cryptorchidism, Carious teeth, Atrial septal defect, Short nose, Dental crowding, Ventricular sep... |
OMIM:617602 |
| Acrodysplasia Scoliosis |
|
Scoliosis, Vertebral segmentation defect, Spina bifida occulta |
ORPHA:2956 |
| Short Stature-Wormian Bones-Dextrocardia Syndrome |
|
Delayed eruption of teeth, Cryptorchidism, Depressed nasal tip, Midshaft hypospadias, Abnormality... |
ORPHA:2863 |
| Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction |
|
Atrial septal defect, Bulbous nose, Short nose, Ventricular septal defect, Micropenis, Aganglioni... |
OMIM:613870 |
| Tetralogy Of Fallot |
|
Cryptorchidism, Tetralogy of Fallot, Thin vermilion border |
ORPHA:3303 |
| Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps |
|
Hematuria, Nephropathy, Vascular dilatation, Dilatation of the cerebral artery, Renal cyst, Renal... |
OMIM:611773 |
| Dextrocardia With Unusual Facies And Microphthalmia |
|
Vertebral fusion, Vertebral segmentation defect |
OMIM:221950 |
| Czech Dysplasia |
|
Scoliosis, Platyspondyly, Thoracic kyphosis, Flexion contracture, Irregular vertebral endplates, ... |
OMIM:609162 |
| Bruck Syndrome |
|
Scoliosis, Platyspondyly, Osteoporosis, Wormian bones, Arthrogryposis multiplex congenita, Kyphos... |
ORPHA:2771 |
| Distal 22Q11.2 Microdeletion Syndrome |
|
Ankyloglossia, Atrial septal defect, Truncus arteriosus, Narrow mouth, Underdeveloped nasal alae,... |
ORPHA:261330 |
| Linear Skin Defects With Multiple Congenital Anomalies 2 |
|
Long philtrum, Ventricular hypertrophy, Atrial septal defect, Short nose, Tetralogy of Fallot |
OMIM:300887 |
| Fryns Syndrome |
|
Cryptorchidism, Intestinal malrotation, Short distal phalanx of finger, Vesicoureteral reflux, Hi... |
ORPHA:2059 |
| Progressive Pseudorheumatoid Dysplasia |
|
Osteoporosis, Platyspondyly, Camptodactyly of finger, Joint swelling, Enlarged interphalangeal jo... |
OMIM:208230 |
| Osteogenesis Imperfecta, Type Ix |
|
Scoliosis, Platyspondyly, Wormian bones, Kyphosis, Decreased calvarial ossification, Recurrent fr... |
OMIM:259440 |
| Methimazole Embryofetopathy |
|
Ventricular septal defect, Hypothyroidism, Abnormal aortic morphology, Choanal atresia, Esophagea... |
ORPHA:1923 |
| Pmp22-Rai1 Contiguous Gene Duplication Syndrome |
|
Abnormal renal morphology, Atrial septal defect, Patent foramen ovale, Abnormal heart morphology,... |
ORPHA:477817 |
| Pyle Disease |
|
Scoliosis, Platyspondyly, Genu valgum, Limited elbow extension, Reduced bone mineral density |
OMIM:265900 |
| Spondyloepiphyseal Dysplasia Tarda |
|
Scoliosis, Limited wrist movement, Localized osteoporosis, Joint swelling, Thoracic kyphosis, Lim... |
ORPHA:93284 |
| Developmental Delay With Or Without Dysmorphic Facies And Autism |
|
Cryptorchidism, Bulbous nose, Laryngotracheomalacia, Patent ductus arteriosus, Vesicoureteral ref... |
OMIM:618454 |
| Isotretinoin-Like Syndrome |
|
Abnormality of the pulmonary veins, Thin anteverted nares, Abnormal aortic arch morphology, Paten... |
ORPHA:2306 |
| Heterotaxy, Visceral, 5, Autosomal |
|
Dextrocardia, Atrial septal defect, Transposition of the great arteries, Ventricular septal defect |
OMIM:270100 |
| Non-Distal Trisomy 10Q |
|
Convex nasal ridge, Cryptorchidism, Short nose, Everted lower lip vermilion, High palate, Microgn... |
ORPHA:1695 |
| Cleft Palate, Cardiac Defects, And Mental Retardation |
|
Atrial septal defect, Ventricular septal defect, Coarctation of aorta, Tented upper lip vermilion... |
OMIM:600987 |
| Oculoauriculofrontonasal Syndrome |
|
Narrow mouth, Underdeveloped nasal alae, Ventricular septal defect, Cleft lip, Cleft palate, Broa... |
ORPHA:398156 |
| Peroxisome Biogenesis Disorder 3A (Zellweger) |
|
Polycystic kidney dysplasia, Vascular dilatation |
OMIM:614859 |
| Holzgreve Syndrome |
|
Renal hypoplasia, Hypoplastic left heart, Cleft upper lip, Cleft palate |
OMIM:236110 |
| Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1 |
|
Long philtrum, Short nose, Dental crowding, Pierre-Robin sequence, Everted lower lip vermilion, S... |
OMIM:617877 |
| Autosomal Recessive Amelia |
|
Cryptorchidism, Acromelia of the lower limbs, Amelia involving the upper limbs, Non-midline cleft... |
ORPHA:1027 |
| Ring Chromosome 8 Syndrome |
|
Short nose, Abnormal palate morphology, Abnormality of the ureter, Hydronephrosis, Anteverted nares |
ORPHA:1450 |
| Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair |
|
Micrognathia, Depressed nasal bridge, Abnormality of the dentition, Ventricular septal defect |
OMIM:616901 |
| Anauxetic Dysplasia 1 |
|
Cervical subluxation, Platyspondyly, Short neck, Delayed ossification of carpal bones |
OMIM:607095 |
| Ventricular Septal Defect 1 |
|
Pulmonic stenosis, Atrial septal defect, Ventricular septal defect |
OMIM:614429 |
| Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
|
Osteoporosis, Platyspondyly, Kyphosis |
ORPHA:2786 |
| Cardioneuromyopathy With Hyaline Masses And Nemaline Rods |
|
Fusion of midcervical facet joints, Widening of cervical spinal canal, Cervical vertebral bodies ... |
OMIM:606842 |
| Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome |
|
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Unilateral renal agene... |
OMIM:618142 |
| Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia |
|
Short philtrum, Downturned corners of mouth, Ventricular septal defect, Mandibular prognathia, Ec... |
ORPHA:94066 |
| 8Q12 Microduplication Syndrome |
|
Long philtrum, Atrial septal defect, Narrow mouth, Ventricular septal defect, Everted lower lip v... |
ORPHA:228399 |
| Aortic Valve Disease 3 |
|
Bicuspid aortic valve, Aortic valve stenosis, Atrial septal defect, Aortic root aneurysm |
OMIM:618496 |
| Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome |
|
Cryptorchidism, Abnormal palate morphology, Anal atresia, Hypoplasia of penis, Hypospadias, Tetra... |
ORPHA:1381 |
| Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Irregular acetabular roof, Platyspondyly, Enlarged joints, Carpal bone hypoplasia, Severe carpal ... |
OMIM:184252 |
| Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome |
|
Carious teeth, Patent ductus arteriosus, Thin lower lip vermilion, Micropenis, Unilateral renal a... |
ORPHA:363444 |
| Dislocation Of Hip, Congenital, With Hyperextensibility Of Fingers And Facial Dysmorphism |
|
Atrial septal defect, Patent ductus arteriosus, Wide nasal bridge, Vesicoureteral reflux, Patent ... |
OMIM:601450 |
| 8P23.1 Microdeletion Syndrome |
|
Cryptorchidism, Thin vermilion border, Short nose, Abnormal aortic morphology, Patent ductus arte... |
ORPHA:251071 |
| Greenberg Dysplasia |
|
Platyspondyly, Abnormal bone ossification, Abnormal form of the vertebral bodies, Anterior rib pu... |
ORPHA:1426 |
| Filippi Syndrome |
|
Cryptorchidism, Thin vermilion border, Short philtrum, Abnormality of dental morphology, Ventricu... |
OMIM:272440 |
| Metatropic Dysplasia |
|
Scoliosis, Platyspondyly, Arthrogryposis multiplex congenita, Anisospondyly, Long coccyx, Abnorma... |
OMIM:156530 |
| Tubulointerstitial Kidney Disease, Autosomal Dominant, 5 |
|
Focal segmental glomerulosclerosis, Nephropathy, Vascular dilatation, Chronic kidney disease, Ren... |
OMIM:617056 |
| Femoral-Facial Syndrome |
|
Cryptorchidism, Short fifth metatarsal, Underdeveloped nasal alae, Micrognathia, Micropenis, Long... |
OMIM:134780 |
| Atrioventricular Septal Defect 5 |
|
Atrioventricular canal defect, Muscular ventricular septal defect |
OMIM:614474 |
| Rhiny |
|
Thin vermilion border, Anteverted nares, Short nose |
OMIM:180360 |
| Meier-Gorlin Syndrome 7 |
|
Atrial septal defect, Ventricular septal defect, Complete atrioventricular canal defect, Vesicour... |
OMIM:617063 |
| Teebi Hypertelorism Syndrome |
|
Long philtrum, Atrial septal defect, Short nose, Dental crowding, Ventricular septal defect, Nata... |
OMIM:145420 |
| Osteogenesis Imperfecta, Type Xv |
|
Scoliosis, Platyspondyly, Joint hypermobility, Recurrent fractures, Bowing of limbs due to multip... |
OMIM:615220 |
| Timothy Syndrome |
|
Ventricular septal defect, Hypothyroidism, Patent ductus arteriosus, Pneumonia, Bronchitis, Thin ... |
OMIM:601005 |
| Thomas Syndrome |
|
Renal hypoplasia/aplasia, Hypoplastic left heart, Multicystic kidney dysplasia |
ORPHA:3316 |
| 22Q11.2 Deletion Syndrome |
|
Cryptorchidism, Carious teeth, Abnormal dental enamel morphology, Narrow mouth, Bulbous nose, Pat... |
ORPHA:567 |
| Gastrointestinal Defects And Immunodeficiency Syndrome |
|
Enamel hypoplasia, Ventricular septal defect, Autoimmune hemolytic anemia, Intestinal malrotation... |
OMIM:243150 |
| Li-Campeau Syndrome |
|
Long philtrum, Cryptorchidism, Atrial septal defect, Ventricular septal defect, Hypothyroidism, P... |
OMIM:619189 |
| Microcephalic Osteodysplastic Dysplasia, Saul-Wilson Type |
|
Platyspondyly, Irregularity of vertebral bodies, Hypoplasia of the odontoid process |
ORPHA:85172 |
| Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion |
|
Ventricular hypertrophy, Bulbous nose, Short nose, Ventricular septal defect, Abnormal heart morp... |
ORPHA:284169 |
| 3C Syndrome |
|
Intestinal malrotation, Oral cleft, High, narrow palate, Micrognathia, Depressed nasal bridge, Ab... |
ORPHA:7 |
| Microcephaly-Capillary Malformation Syndrome |
|
Atrial septal defect, Short nose, Ventricular septal defect, Short distal phalanx of finger, Vesi... |
OMIM:614261 |
| Mullegama-Klein-Martinez Syndrome |
|
Long philtrum, Short philtrum, Bulbous nose, Smooth philtrum, Wide nasal bridge, Thin upper lip v... |
OMIM:301022 |
| Diabetic Embryopathy |
|
Cryptorchidism, Ventricular septal defect, Abnormal aortic morphology, Ureteral duplication, Hydr... |
ORPHA:1926 |
| Hypertelorism And Tetralogy Of Fallot |
|
Tetralogy of Fallot with absent pulmonary valve, Patent ductus arteriosus, Patent foramen ovale, ... |
OMIM:239711 |
| Perlman Syndrome |
|
Cryptorchidism, Short nose, Open mouth, Hyperinsulinemia, Smooth philtrum, Wide nasal bridge, Abn... |
ORPHA:2849 |
| Aortic Aneurysm, Familial Thoracic 7 |
|
Descending aortic dissection, Aortic aneurysm, Ascending aortic dissection, Aortic rupture |
OMIM:613780 |
| Zechi-Ceide Syndrome |
|
Thin vermilion border, Atrial septal defect, Oligodontia, Short philtrum, Downturned corners of m... |
ORPHA:217017 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type |
|
Short philtrum, Atrial septal defect, Open mouth, Dental crowding, Ventricular septal defect, Mic... |
OMIM:309520 |
| Aortic Aneurysm, Familial Thoracic 4 |
|
Ascending aortic dissection, Livedo reticularis, Patent ductus arteriosus, Posterior cerebral art... |
OMIM:132900 |
| Robinow Syndrome, Autosomal Dominant 2 |
|
Long philtrum, Cryptorchidism, Short nose, Dental crowding, Micropenis, Abnormality of the dentit... |
OMIM:616331 |
| Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly |
|
Multiple small vertebral fractures, Platyspondyly, Osteoporosis of vertebrae |
OMIM:156510 |
| Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3 |
|
Scoliosis, Platyspondyly, Multiple joint dislocation, Dislocated radial head, Joint laxity, Carpa... |
OMIM:618395 |
| Catel-Manzke Syndrome |
|
Cryptorchidism, Ventricular septal defect, Coarctation of aorta, Dextrocardia, Cleft palate, Glos... |
OMIM:616145 |
| Igg4-Related Aortitis |
|
Abnormal aortic arch morphology, Thoracic aortic aneurysm, Abnormal common carotid artery morphol... |
ORPHA:449400 |
| Chondrodysplasia With Joint Dislocations, Gpapp Type |
|
Short nose, Narrow mouth, Short foot, Wide nasal bridge, Short metacarpal, Cleft palate, Short to... |
OMIM:614078 |
| Larsen-Like Osseous Dysplasia-Short Stature Syndrome |
|
Short nose, Abnormal cardiac septum morphology, Thin vermilion border, Narrow mouth |
ORPHA:2370 |
| Reticular Dysgenesis |
|
Congenital agranulocytosis, Lymphopenia, Leukopenia, Hypoplasia of the thymus |
OMIM:267500 |
| Spondyloepimetaphyseal Dysplasia With Joint Laxity |
|
Scoliosis, Platyspondyly, Limited elbow extension, Dislocated radial head, Joint laxity, Abnormal... |
ORPHA:93359 |
| Lowry-Maclean Syndrome |
|
Convex nasal ridge, Delayed eruption of primary teeth, Talon cusp, Short nose, Downturned corners... |
ORPHA:2409 |
| Adenylosuccinate Lyase Deficiency |
|
Long philtrum, Short nose, Smooth philtrum, Thin upper lip vermilion, Anteverted nares |
ORPHA:46 |
| Robinow Syndrome, Autosomal Recessive 2 |
|
Long philtrum, Absent uvula, Broad nasal tip, Short nose, Abnormality of the dentition, Mesomelia... |
OMIM:618529 |
| Feingold Syndrome 2 |
|
Ventricular septal defect, Short middle phalanx of the 2nd finger, Short thumb, Short middle phal... |
OMIM:614326 |
| Mcdonough Syndrome |
|
Cryptorchidism, Short philtrum, Atrial septal defect, Ventricular septal defect, Mandibular progn... |
OMIM:248950 |
| Bardet-Biedl Syndrome 10 |
|
Renal insufficiency, Renal cyst, Abnormality of the kidney |
OMIM:615987 |
| Brachydactyly, Type B1 |
|
Hypoplastic sacrum, Camptodactyly, Hemivertebrae, Vertebral fusion, Delayed cranial suture closur... |
OMIM:113000 |
| Li-Ghorbani-Weisz-Hubshman Syndrome |
|
Atrial septal defect, Downturned corners of mouth, Ventricular septal defect, Patent ductus arter... |
OMIM:618974 |
| Grange Syndrome |
|
Patent ductus arteriosus, Arterial stenosis, Short palm, Ventricular septal defect |
ORPHA:79094 |
| RCAD (renal cysts and diabetes) |
|
Multiple renal cysts |
DECIPHER:47 |
| Pseudodiastrophic Dysplasia |
|
Scoliosis, Platyspondyly, Elbow dislocation, Hypoplasia of the odontoid process, Phalangeal dislo... |
OMIM:264180 |
| Maternal Phenylketonuria |
|
Abnormal renal morphology, Ventricular septal defect, Abnormal heart morphology, Double outlet ri... |
ORPHA:2209 |
| Xk Aprosencephaly Syndrome |
|
Atrial septal defect, Narrow mouth, Ventricular septal defect, Abnormality of the nares, Anal atr... |
ORPHA:3469 |
| Mitochondrial Myopathy And Sideroblastic Anemia |
|
Long philtrum, Short nose, Delayed puberty, Anemia, High palate, Micrognathia |
ORPHA:2598 |
| Maxillonasal Dysplasia, Binder Type |
|
Short nose, Short columella, Short distal phalanx of finger, Dental malocclusion, Depressed nasal... |
OMIM:155050 |
| Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome |
|
Long philtrum, Thin vermilion border, Cryptorchidism, Short nose, Renal hypoplasia, Micropenis, S... |
ORPHA:171839 |
| Endocardial Fibroelastosis |
|
Cryptorchidism, Endocardial fibroelastosis, Abnormal palate morphology, Restrictive cardiomyopath... |
ORPHA:2022 |
| Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant |
|
Platyspondyly, Premature osteoarthritis |
OMIM:184840 |
| Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Long philtrum, Truncus arteriosus, Horseshoe kidney, Ventricular septal defect, Microretrognathia... |
ORPHA:508498 |
| Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly |
|
Short nose, Dental crowding, Thick vermilion border, Hypodontia, High palate, Micrognathia |
OMIM:617061 |
| Fadd-Related Immunodeficiency |
|
Pulmonary artery atresia, Ventricular septal defect |
ORPHA:306550 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5 |
|
Scoliosis, Hyperlordosis, Pachygyria, Kyphosis, Achilles tendon contracture, Vertebral fusion |
OMIM:606612 |
| Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Cryptorchidism, Carious teeth, Narrow palate, Dental crowding, Natal tooth, Patent ductus arterio... |
ORPHA:353281 |
| Mental Retardation With Language Impairment And With Or Without Autistic Features |
|
Short nose, Drooling, Open mouth, Enuresis, Broad nasal tip, Retrognathia, Malar flattening |
OMIM:613670 |
| Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Renal tubular dysfunction, Double outlet right ventricle, Patent ductus arteriosus, Atrial septal... |
OMIM:614886 |
| Atrioventricular Septal Defect With Blepharophimosis And Anal And Radial Defects |
|
Aplasia of the 1st metacarpal, Atrial septal defect, Ventricular septal defect, Micrognathia, Hyp... |
OMIM:600123 |
| Dental Anomalies And Short Stature |
|
Platyspondyly, Herniation of intervertebral nuclei, Intervertebral space narrowing, Narrow verteb... |
OMIM:601216 |
| Klippel-Feil Syndrome 2, Autosomal Recessive |
|
Scoliosis, Short neck, Fused cervical vertebrae, Cervical C2/C3 vertebral fusion |
OMIM:214300 |
| Umbilical Cord Ulceration-Intestinal Atresia Syndrome |
|
Ventricular septal defect, Abnormal tricuspid valve morphology, Abnormal aortic morphology, Duode... |
ORPHA:3405 |
| Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome |
|
Ventricular septal defect, Non-midline cleft lip, Aplasia/Hypoplasia of the radius, Ectopic anus,... |
ORPHA:2476 |
| Diaphanospondylodysostosis |
|
Absent or minimally ossified vertebral bodies, Short neck, Abnormal vertebral segmentation and fu... |
ORPHA:66637 |
| Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome |
|
Hyperplasia of the maxilla, Pineal cyst, Ventricular septal defect, Micrognathia, Tracheomalacia,... |
ORPHA:513456 |
| Bullous Dystrophy, Hereditary Macular Type |
|
Acrocyanosis, Death in childhood |
OMIM:302000 |
| Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome |
|
Aplasia of the proximal phalanges of the hand, Cryptorchidism, Ventricular septal defect, Renal h... |
ORPHA:2256 |
| Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome |
|
Long philtrum, Atrial septal defect, Ventricular septal defect, Renal hypoplasia, Abnormality of ... |
ORPHA:75389 |
| Fibromuscular Dysplasia, Arterial |
|
Renovascular hypertension, Arterial fibromuscular dysplasia, Aortic dissection |
OMIM:135580 |
| Simpson-Golabi-Behmel Syndrome, Type 2 |
|
Short nose, Recurrent upper respiratory tract infections, Micropenis, Deep philtrum, Short finger... |
OMIM:300209 |
| Bruck Syndrome 2 |
|
Platyspondyly, Wormian bones, Flexion contracture, Pterygium, Increased susceptibility to fractur... |
OMIM:609220 |
| Monosomy 18Q |
|
Left aortic arch with right descending aorta and right ductus arteriosus, Bulbous nose, Open mout... |
ORPHA:1600 |
| Feingold Syndrome Type 2 |
|
Short middle phalanx of finger, Jejunal atresia, Short thumb, Ventricular septal defect |
ORPHA:391646 |
| Eng-Strom Syndrome |
|
Abnormal cardiac septum morphology, Ventricular septal defect |
ORPHA:1937 |
| Renal Dysplasia, Cystic, Susceptibility To |
|
Cystic renal dysplasia, Renal dysplasia, Vesicoureteral reflux, Hyperechogenic kidneys, Renal ins... |
OMIM:601331 |
| 1Q21.1 Microduplication Syndrome |
|
Hypospadias, Tetralogy of Fallot |
ORPHA:250994 |
| Diamond-Blackfan Anemia 16 |
|
Pulmonic stenosis, Atrial septal defect, Anemia |
OMIM:617408 |
| Lowry-Maclean Syndrome |
|
Delayed eruption of teeth, Cleft palate, Convex nasal ridge, Abnormal heart morphology |
OMIM:600252 |
| Verheij Syndrome |
|
Long philtrum, Short nose, Renal hypoplasia, Wide nasal bridge, Thin upper lip vermilion, Renal c... |
OMIM:615583 |
| Isolated Klippel-Feil Syndrome |
|
Scoliosis, Abnormality of the vertebral column, Cervical C2/C3 vertebral fusion, Abnormal vertebr... |
ORPHA:2345 |
| Multiple Epiphyseal Dysplasia, Beighton Type |
|
Genu valgum, Lumbar platyspondyly, Abnormal hip joint morphology, Biconcave vertebral bodies, Low... |
ORPHA:166011 |
| Craniofacioskeletal Syndrome |
|
Cryptorchidism, Short philtrum, Atrial septal defect, Interrupted aortic arch, Ventricular septal... |
OMIM:300712 |
| 3P25.3 Microdeletion Syndrome |
|
Short philtrum, Atrial septal defect, Downturned corners of mouth, Ventricular septal defect, Mic... |
ORPHA:435638 |
| Spondylometaphyseal Dysplasia, Axial |
|
Platyspondyly, Reduced sperm motility |
OMIM:602271 |
| Cardiac Septal Defects With Coarctation Of The Aorta |
|
Secundum atrial septal defect, Perimembranous ventricular septal defect, Coarctation of aorta |
OMIM:212090 |
| T-Cell Immunodeficiency, Recurrent Infections, And Autoimmunity With Or Without Cardiac Malformations |
|
Lymphopenia, Atrial septal defect, Neutropenia |
OMIM:614868 |
| Transaldolase Deficiency |
|
Thin vermilion border, Atrial septal defect, Short philtrum, Ventricular septal defect, Deep phil... |
OMIM:606003 |
| Cleft Palate, Isolated |
|
Anterior open-bite malocclusion, Increased overbite, Gingival overgrowth, Cleft palate, Micrognathia |
OMIM:119540 |
| Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome |
|
Myopathy, Cyanosis, Hypertrophic cardiomyopathy |
ORPHA:91130 |
| Diabetes Insipidus, Neurohypophyseal |
|
Long philtrum, Central diabetes insipidus, Short nose, Wide nose |
OMIM:125700 |
| Spondylometaphyseal Dysplasia, Type A4 |
|
Platyspondyly, Ovoid vertebral bodies, Osteoporotic tarsals, Irregular patellae, Flat acetabular ... |
OMIM:609052 |
| Spondyloepiphyseal Dysplasia Tarda, X-Linked |
|
Scoliosis, Platyspondyly, Hip osteoarthritis, Kyphosis, Lumbar hyperlordosis, Hump-shaped mound o... |
OMIM:313400 |
| Nephronophthisis 14 |
|
Nephronophthisis, Situs inversus totalis, Polycystic kidney dysplasia |
OMIM:614844 |
| Congenitally Corrected Transposition Of The Great Arteries |
|
Single ventricle, Patent ductus arteriosus, Atrial situs ambiguous, Dextrocardia, Gerbode ventric... |
ORPHA:216694 |
| 15Q11.2 Microdeletion Syndrome |
|
Atrial septal defect, Ventricular septal defect, Abnormal heart morphology, Abnormal palate morph... |
ORPHA:261183 |
| Treacher-Collins Syndrome |
|
Open bite, Cryptorchidism, Abnormal dental enamel morphology, Narrow mouth, Patent ductus arterio... |
ORPHA:861 |
| Keratoconus Posticus Circumscriptus |
|
Short neck, Limited elbow extension and supination, Abnormal vertebral segmentation and fusion |
OMIM:244600 |
| Pierpont Syndrome |
|
Cryptorchidism, Thin vermilion border, Short toe, Short nose, Micropenis, Everted lower lip vermi... |
OMIM:602342 |
| Microgastria-Limb Reduction Defect Syndrome |
|
Absent hand, Crossed fused renal ectopia, Intestinal malrotation, Rectovaginal fistula, Short thu... |
ORPHA:2538 |
| Aortic Arch Interruption, Facial Palsy, And Retinal Coloboma |
|
Facial palsy, Interrupted aortic arch, Coarctation of aorta |
OMIM:107550 |
| Beaulieu-Boycott-Innes Syndrome |
|
Carious teeth, Horseshoe kidney, Ventricular septal defect, Patent ductus arteriosus, Dental malo... |
OMIM:613680 |
| Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects |
|
Ventricular septal defect, Secundum atrial septal defect, Left ventricular hypertrophy, Pulmonary... |
OMIM:108900 |
| 9q subtelomeric deletion syndrome |
|
Protruding tongue, Anteverted nares, Short nose, Abnormal heart morphology |
DECIPHER:52 |
| Transaldolase Deficiency |
|
Atrial septal defect, Biventricular hypertrophy, Thrombocytopenia, Anemia, Coarctation of aorta, ... |
ORPHA:101028 |
| Bardet-Biedl Syndrome 16 |
|
Renal insufficiency, Renal dysplasia, Renal cyst, Renal agenesis, Abnormality of the kidney |
OMIM:615993 |
| Lujan-Fryns Syndrome |
|
Short philtrum, Atrial septal defect, Dental crowding, Macroorchidism, Abnormality of the dentiti... |
ORPHA:776 |
| Fetal Valproate Spectrum Disorder |
|
Long philtrum, Thin vermilion border, Short nose, Narrow mouth, Downturned corners of mouth, Depr... |
ORPHA:1906 |
| Wildervanck Syndrome |
|
Fused cervical vertebrae |
OMIM:314600 |
| Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome |
|
Atrial septal defect, Downturned corners of mouth, Underdeveloped nasal alae, Choanal atresia, Wi... |
ORPHA:521308 |
| Noonan Syndrome-Like Disorder With Loose Anagen Hair |
|
Cryptorchidism, Thin vermilion border, Carious teeth, Short nose, Abnormal palate morphology, Dee... |
ORPHA:2701 |
| 20P12.3 Microdeletion Syndrome |
|
Long philtrum, Atrial septal defect, Narrow mouth, Hypoplasia of the maxilla, Wide nasal bridge, ... |
ORPHA:261295 |
| Aortic Aneurysm, Familial Thoracic 8 |
|
Coronary artery aneurysm, Coronary artery dissection, Descending aortic dissection, Ascending aor... |
OMIM:615436 |
| Autosomal Dominant Omodysplasia |
|
Long philtrum, Cryptorchidism, Short nose, Rhizomelia, Short 1st metacarpal, Short humerus, Hypop... |
ORPHA:93328 |
| Right Pulmonary Artery, Anomalous Origin Of, Familial |
|
Anomalous origin of right pulmonary artery from ascending aorta, Ventricular septal defect, Paten... |
OMIM:610338 |
| Down Syndrome |
|
Complete atrioventricular canal defect |
OMIM:190685 |
| Neurooculocardiogenitourinary Syndrome |
|
Atrial septal defect, Downturned corners of mouth, Ventricular septal defect, Patent ductus arter... |
OMIM:618652 |
| 15Q14 Microdeletion Syndrome |
|
Long philtrum, Short philtrum, Atrial septal defect, Convex nasal ridge, Ventricular septal defec... |
ORPHA:261190 |
| Nephrotic Syndrome, Type 11 |
|
Diffuse mesangial sclerosis, Ventricular septal defect, Focal segmental glomerulosclerosis, Smoot... |
OMIM:616730 |
| Autosomal Dominant Polycystic Kidney Disease |
|
Renal insufficiency, Hematuria, Albuminuria, Pyelonephritis, Enlarged kidney, Abnormal urinary el... |
ORPHA:730 |
| Nephronophthisis 20 |
|
Nephronophthisis, Renal insufficiency, Renal cyst, Stage 5 chronic kidney disease |
OMIM:617271 |
| Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Hypoplastic sacrum, Platyspondyly, Limited elbow extension, Genu valgum, Capitate-hamate fusion, ... |
OMIM:271650 |
| Heterotaxy, Visceral, 6, Autosomal |
|
Dextrocardia, Transposition of the great arteries |
OMIM:614779 |
| Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature |
|
Ventricular septal defect, Varicose veins, Patent ductus arteriosus, Peripheral arterial stenosis |
OMIM:126320 |
| Prune Belly Syndrome |
|
Atrial septal defect, Urogenital sinus anomaly, Hydroureter, Ventricular septal defect, Patent du... |
ORPHA:2970 |
| Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease |
|
Mitral valve prolapse, Cerebral berry aneurysm, Renal insufficiency, Polycystic kidney dysplasia |
OMIM:173900 |
| Robinow Syndrome, Autosomal Dominant 3 |
|
Cryptorchidism, Hypoplastic right heart, Downturned corners of mouth, Patent ductus arteriosus, T... |
OMIM:616894 |
| Atelosteogenesis, Type Ii |
|
Scoliosis, Platyspondyly, Coronal cleft vertebrae, Lumbar hyperlordosis, Cervical kyphosis, Flat ... |
OMIM:256050 |
| Syndromic Diarrhea |
|
Atrial septal defect, Thrombocytosis, Ventricular septal defect, Abnormal heart morphology, Renal... |
ORPHA:84064 |
| Ehlers-Danlos Syndrome, Autosomal Dominant, Type Unspecified |
|
Mucoid extracellular matrix accumulation, Aortic dissection, Micrognathia, Prominent nasal bridge... |
OMIM:130090 |
| Robinow Syndrome |
|
Cryptorchidism, Dental crowding, Short distal phalanx of finger, Oral cleft, Triangular mouth, Mi... |
ORPHA:97360 |
| Gm1-Gangliosidosis, Type Ii |
|
Platyspondyly |
OMIM:230600 |
| Fanconi Anemia, Complementation Group O |
|
Stage 5 chronic kidney disease, Hydronephrosis, Renal cyst, Abnormal heart morphology |
OMIM:613390 |
| Hydrocephaly-Low Insertion Umbilicus Syndrome |
|
Anomalous pulmonary venous return, Tetralogy of Fallot, Patent ductus arteriosus, Abnormality of ... |
ORPHA:2184 |
| Primary Ciliary Dyskinesia |
|
Anomalous pulmonary venous return, Situs inversus totalis, Abnormal heart morphology, Abnormal at... |
ORPHA:244 |
| Microphthalmia-Microtia-Fetal Akinesia Syndrome |
|
Short nose, Hydroureter, Patent ductus arteriosus, Hypoplasia of penis, Micrognathia, Duodenal st... |
ORPHA:2547 |
| Meacham Syndrome |
|
Pulmonary sequestration, Abnormal lung lobation, Anomalous pulmonary venous return, Atrial septal... |
ORPHA:3097 |
| Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome |
|
Acrocyanosis |
ORPHA:86918 |
| Baraitser-Winter Syndrome 1 |
|
Long philtrum, Cryptorchidism, Short nose, Micropenis, Patent ductus arteriosus, Wide mouth, Wide... |
OMIM:243310 |
| Alzahrani-Kuwahara Syndrome |
|
Long philtrum, Atrial septal defect, Bulbous nose, Ventricular septal defect, Pulmonary artery sl... |
OMIM:619268 |
| Complete Atrioventricular Septal Defect |
|
Complete atrioventricular canal defect, Displacement of the papillary muscles, Right ventricular ... |
ORPHA:1329 |
| Distal Trisomy 5Q |
|
Long philtrum, Thin vermilion border, Carious teeth, Hypoplasia of the radius, Narrow mouth, Shor... |
ORPHA:96097 |
| Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome |
|
Narrow mouth, Ventricular septal defect, Abnormal cardiac septum morphology, Abnormal nasal morph... |
ORPHA:83473 |
| Even-Plus Syndrome |
|
Atrial septal defect, Short nose, Renal hypoplasia, Hypodontia, Anal atresia, Vesicoureteral refl... |
OMIM:616854 |
| Ulnar/Fibula Ray Defect-Brachydactyly Syndrome |
|
Atrial septal defect, Postaxial oligodactyly, Malar flattening, Aplasia/Hypoplasia of the fibula,... |
ORPHA:52056 |
| Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome |
|
Abnormal aortic morphology, Intestinal malrotation, Bilateral cleft lip and palate, Patent ductus... |
ORPHA:2001 |
| Cranioacrofacial Syndrome |
|
Pulmonic stenosis, Ventricular septal defect |
OMIM:122850 |
| Fetal Alcohol Syndrome |
|
Atrial septal defect, Short nose, Smooth philtrum, Non-midline cleft lip, Thin upper lip vermilio... |
ORPHA:1915 |
| Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Complete atrioventricular canal defect, Tetralogy of Fallot, Micropenis |
OMIM:617925 |
| Aortic Aneurysm, Familial Thoracic 6 |
|
Moyamoya phenomenon, Aortic aneurysm, Premature coronary artery atherosclerosis, Thoracic aortic ... |
OMIM:611788 |
| Recombinant 8 Syndrome |
|
Cryptorchidism, Atrial septal defect, Downturned corners of mouth, Ventricular septal defect, Pat... |
ORPHA:96167 |
| Char Syndrome |
|
Short philtrum, Ventricular septal defect, Everted lower lip vermilion, Patent ductus arteriosus,... |
ORPHA:46627 |
| Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence |
|
Cryptorchidism, Short nose, Downturned corners of mouth, Laryngeal hypoplasia, Pierre-Robin seque... |
OMIM:217980 |
| Codas Syndrome |
|
Delayed eruption of teeth, Abnormal dental enamel morphology, Short nose, Abnormality of dental m... |
ORPHA:1458 |
| Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Cryptorchidism, Carious teeth, Hydrocele testis, Narrow palate, Dental crowding, Natal tooth, Pat... |
ORPHA:353284 |
| Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Cryptorchidism, Carious teeth, Hydrocele testis, Narrow palate, Dental crowding, Natal tooth, Pat... |
ORPHA:353277 |
| 10Q22.3Q23.3 Microduplication Syndrome |
|
Hypospadias, Tetralogy of Fallot |
ORPHA:276422 |
| Chung-Jansen Syndrome |
|
Long philtrum, Short philtrum, Thin vermilion border, Cryptorchidism, Short nose, High palate, Mi... |
OMIM:617991 |
| Transketolase Deficiency |
|
Atrial septal defect, Ventricular septal defect, Abnormal heart morphology, Increased level of ri... |
ORPHA:488618 |
| Mental Retardation, Buenos Aires Type |
|
Carious teeth, Atrial septal defect, Mandibular prognathia, Wide mouth, Wide nasal bridge, Thin u... |
OMIM:249630 |
| Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction |
|
Atrial septal defect, Narrow palate, Patent ductus arteriosus, Hashimoto thyroiditis, Pulmonic st... |
OMIM:618223 |
| German Syndrome |
|
Cryptorchidism, Open mouth, Everted lower lip vermilion, Wide nasal bridge, Oral cleft, Tetralogy... |
ORPHA:2077 |
| Noonan Syndrome 11 |
|
Atrial septal defect, Bulbous nose, Thick vermilion border, Pulmonic stenosis, Depressed nasal br... |
OMIM:618499 |
| Spondyloepiphyseal Dysplasia, Myopia, And Sensorineural Deafness |
|
Lumbar hyperlordosis, Platyspondyly, Short neck |
OMIM:184000 |
| Congenital Alveolar Capillary Dysplasia |
|
Pulmonary valve atresia, Atrial septal defect, Ventricular septal defect, Patent ductus arteriosu... |
ORPHA:210122 |
| Shashi-Pena Syndrome |
|
Retrognathia, Atrial septal defect, Broad nasal tip |
OMIM:617190 |
| Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome |
|
Urinary incontinence, Complete atrioventricular canal defect |
ORPHA:476126 |
| Isolated Polycystic Liver Disease |
|
Multiple renal cysts, Vascular dilatation |
ORPHA:2924 |
| Acromicric Dysplasia |
|
Long philtrum, Narrow mouth, Bulbous nose, Short nose, Small hand, Short metacarpal, Thick lower ... |
ORPHA:969 |
| Peroxisome Biogenesis Disorder 8A (Zellweger) |
|
Glossoptosis, Ventricular septal defect |
OMIM:614876 |
| Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome |
|
Short philtrum, Short nose, Everted lower lip vermilion, Mandibular prognathia, Wide mouth, Thin ... |
ORPHA:2429 |
| Short Stature, Developmental Delay, And Congenital Heart Defects |
|
Patent foramen ovale, Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect |
OMIM:617044 |
| Autism Spectrum Disorder Due To Auts2 Deficiency |
|
Cryptorchidism, Short philtrum, Atrial septal defect, Narrow mouth, Abnormal heart morphology, Wi... |
ORPHA:352490 |
| Atrial Septal Defect 1 |
|
Atrial septal defect, Atrial septal dilatation, Ventricular septal defect, Secundum atrial septal... |
OMIM:108800 |
| Pentasomy X |
|
Patent ductus arteriosus, Wide nasal bridge, Small hand, Delayed puberty, Short foot, Abnormal ca... |
ORPHA:11 |
| Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Vertebral hypoplasia, Platyspondyly, Joint laxity, Central vertebral hypoplasia, Lumbar hyperlord... |
OMIM:602557 |
| Melanocytic Nevus Syndrome, Congenital |
|
Narrow nasal ridge, Long philtrum, Prominence of the premaxilla, Short nose, Open mouth, Everted ... |
OMIM:137550 |
| Diprosopus |
|
Abnormal cardiac septum morphology, Abnormality of the nose, Non-midline cleft lip, Cleft palate |
ORPHA:1681 |
| Hypomandibular Faciocranial Dysostosis |
|
Atrial septal defect, Narrow mouth, Choanal stenosis, Short nose, Laryngeal hypoplasia, Patent du... |
ORPHA:1790 |
| Hall-Riggs Mental Retardation Syndrome |
|
Scoliosis, Platyspondyly, Osteoporosis, Kyphosis, Irregular vertebral endplates, Delayed skeletal... |
OMIM:234250 |
| Aminopterin/Methotrexate Embryofetopathy |
|
Situs inversus totalis, Ventricular septal defect, Mandibular prognathia, Mesomelia, Non-midline ... |
ORPHA:1908 |
| Heart And Brain Malformation Syndrome |
|
Interrupted aortic arch, Ventricular septal defect, Everted lower lip vermilion, Wide nasal bridg... |
OMIM:616920 |
| Coffin-Siris Syndrome 5 |
|
Short philtrum, Atrial septal defect, Wide mouth, Thick nasal alae, Short distal phalanx of finge... |
OMIM:616938 |
| Helsmoortel-Van Der Aa Syndrome |
|
Long philtrum, Advanced eruption of teeth, Short nose, Abnormal heart morphology, Everted lower l... |
OMIM:615873 |
| Venular Insufficiency, Systemic |
|
Cyanosis |
OMIM:192700 |
| Sulfhemoglobinemia, Congenital |
|
Cyanosis |
OMIM:185460 |
| Geroderma Osteodysplasticum |
|
Osteoporosis, Platyspondyly, Wormian bones, Biconcave vertebral bodies, Beaking of vertebral bodi... |
OMIM:231070 |
| Kleefstra Syndrome |
|
Cryptorchidism, Downturned corners of mouth, Mandibular prognathia, Vesicoureteral reflux, Pulmon... |
ORPHA:261494 |
| Bardet-Biedl Syndrome 6 |
|
Hypospadias, Renal cyst |
OMIM:605231 |
| Osteogenesis Imperfecta, Type Xiii |
|
Scoliosis, Platyspondyly, Wormian bones, Joint hypermobility, Osteoporosis, Dislocated radial hea... |
OMIM:614856 |
| Chromosome 9P Deletion Syndrome |
|
Long philtrum, Atrial septal defect, Narrow mouth, Ventricular septal defect, Micropenis, Patent ... |
OMIM:158170 |
| Stickler Syndrome Type 1 |
|
Long philtrum, Short nose, Cleft palate, Mitral valve prolapse, Hypoplasia of the maxilla |
ORPHA:90653 |
| Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
|
Anomalous pulmonary venous return, Atrial septal defect, Coarctation of aorta, Abnormal aortic va... |
ORPHA:1120 |
| Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
T lymphocytopenia, Endocardial fibroelastosis, Pericardial effusion, Restrictive cardiomyopathy, ... |
OMIM:619313 |
| Spondylometaphyseal Dysplasia With Corneal Dystrophy |
|
Lumbar platyspondyly, Beaking of vertebral bodies, Patent ductus arteriosus, Thoracic platyspondy... |
OMIM:618961 |
| Smith-Mccort Dysplasia 1 |
|
Scoliosis, Platyspondyly, Atlantoaxial instability, Multicentric femoral head ossification, Genu ... |
OMIM:607326 |
| Mental Retardation, Autosomal Recessive 65 |
|
Cryptorchidism, Thin vermilion border, Atrial septal defect, Bulbous nose, Hypospadias, Prominent... |
OMIM:618109 |
| Mayer-Rokitansky-Küster-Hauser Syndrome |
|
Vertebral fusion, Vertebral segmentation defect, Abnormal sacrum morphology, Abnormal form of the... |
ORPHA:3109 |
| Calvarial Doughnut Lesions With Bone Fragility |
|
Scoliosis, Platyspondyly, Osteoporosis, Recurrent fractures, Osteopenia |
OMIM:126550 |
| C Syndrome |
|
Cryptorchidism, Short nose, Renal cortical cysts, Ventricular septal defect, Micromelia, Patent d... |
OMIM:211750 |
| Beta-Mercaptolactate Cysteine Disulfiduria |
|
Convex nasal ridge, Atrial septal defect, Abnormality of the ureter, High palate, Anteverted nare... |
ORPHA:1035 |
| Atrial Septal Defect 8 |
|
Anomalous pulmonary venous return, Atrial septal defect |
OMIM:614433 |
| Orofacial Cleft 13 |
|
Oligodontia, Cleft soft palate, Retrognathia, Micrognathia, Malar flattening |
OMIM:613857 |
| Diamond-Blackfan Anemia 10 |
|
Ventricular septal defect, Choanal atresia, Patent ductus arteriosus, Reticulocytopenia, Ectopic ... |
OMIM:613309 |
| Deafness, Onychodystrophy, Osteodystrophy, Mental Retardation, And Seizures Syndrome |
|
Long philtrum, Short 5th finger, Atrial septal defect, Bulbous nose, Downturned corners of mouth,... |
OMIM:220500 |
| Intellectual Developmental Disorder, X-Linked 30 |
|
Drooling, Open mouth, Short nose, Thin upper lip vermilion, High palate, Anteverted nares |
OMIM:300558 |
| Holt-Oram Syndrome |
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Anomalous pulmonary venous return, Atrial septal defect, Ventricular septal defect, Abnormal aort... |
ORPHA:392 |
| Trigonocephaly With Short Stature And Developmental Delay |
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Convex nasal ridge, Ventricular septal defect, Wide nasal bridge, Broad secondary alveolar ridge,... |
OMIM:314320 |
| 3-Hydroxyisobutyryl-Coa Hydrolase Deficiency |
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Tetralogy of Fallot, Aminoaciduria |
OMIM:250620 |
| Asymmetric Short Stature Syndrome |
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Lumbar scoliosis, Fused cervical vertebrae |
OMIM:108450 |
| Pallister-Hall Syndrome |
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Cryptorchidism, Hydroureter, Natal tooth, Patent ductus arteriosus, Choanal atresia, Decreased te... |
OMIM:146510 |
| Peroxisome Biogenesis Disorder 2A (Zellweger) |
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Cryptorchidism, Abnormal heart morphology, Aminoaciduria, Hypoplasia of the thymus, Polycystic ki... |
OMIM:214110 |
| Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome |
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Cryptorchidism, Atrial septal defect, Broad nasal tip, Downturned corners of mouth, Ventricular s... |
ORPHA:457193 |
| Keutel Syndrome |
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Underdeveloped nasal alae, Ventricular septal defect, Recurrent sinusitis, Tracheal atresia, Shor... |
ORPHA:85202 |
| Microcephaly-Cardiomyopathy Syndrome |
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Dilated cardiomyopathy, High, narrow palate, Ventricular septal defect |
ORPHA:2515 |
| Methemoglobinemia, Beta Type |
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Cyanosis |
OMIM:617971 |
| Methemoglobinemia, Alpha Type |
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Cyanosis |
OMIM:617973 |
| Frontoocular Syndrome |
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Atrial septal defect, Narrow mouth, Pulmonic stenosis, Narrow philtrum, High palate, Micrognathia... |
OMIM:605321 |
| Mandibulofacial Dysostosis-Microcephaly Syndrome |
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Atrial septal defect, Short nose, Cleft palate, Micrognathia, Malar flattening, Accessory oral fr... |
ORPHA:79113 |
| Acrocephalopolydactyly |
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Abnormality of the mouth, Short nose, Limb undergrowth, Depressed nasal ridge, Hepatosplenomegaly |
ORPHA:221054 |
| Fatty Acyl-Coa Reductase 1 Deficiency |
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Long philtrum, Short nose, Smooth philtrum, Thin upper lip vermilion, Depressed nasal bridge |
ORPHA:438178 |
| Phaver Syndrome |
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Ventricular septal defect, Hypoplastic aortic arch, Short thumb, Coarctation of aorta, Pulmonary ... |
ORPHA:2876 |
| Facial Paresis, Hereditary Congenital, 3 |
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Short nose, Downturned corners of mouth, Smooth philtrum, Micrognathia, Anteverted nares, Depress... |
OMIM:614744 |
| Woods Syndrome |
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Thin vermilion border, Ventricular septal defect, Wide nasal bridge, Supernumerary nipple, Low ha... |
OMIM:615236 |
| Hardikar Syndrome |
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Ventricular septal defect, Hydroureter, Patent ductus arteriosus, Intestinal malrotation, Cleft p... |
OMIM:612726 |
| 17P13.3 Microduplication Syndrome |
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Narrow mouth, Short nose, Hypoplasia of penis, High palate, Wide nose |
ORPHA:217385 |
| Renal Hypodysplasia/Aplasia 3 |
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Horseshoe kidney, Multicystic kidney dysplasia, Renal dysplasia, Vesicoureteral reflux, Hydroneph... |
OMIM:617805 |
| Abruzzo-Erickson Syndrome |
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Cryptorchidism, Atrial septal defect, Abnormal palate morphology, Cleft palate, Coronal hypospadi... |
ORPHA:921 |
| Roifman Syndrome |
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Long philtrum, Short toe, Noncompaction cardiomyopathy, Downturned corners of mouth, Ventricular ... |
OMIM:616651 |
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3 |
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Long philtrum, Short nose, Downturned corners of mouth, Open mouth, Restrictive cardiomyopathy, D... |
OMIM:615398 |
| Brachyolmia Type 3 |
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Scoliosis, Platyspondyly, Kyphosis, Short neck |
OMIM:113500 |
| Dyssegmental Dysplasia With Glaucoma |
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Platyspondyly, Elbow flexion contracture, Hip contracture, Delayed epiphyseal ossification |
OMIM:601561 |
| Microform Holoprosencephaly |
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Panhypopituitarism, Short philtrum, Maternal diabetes, Short nose, Hypothyroidism, Choanal atresi... |
ORPHA:280200 |
| Growth Retardation, Developmental Delay, And Facial Dysmorphism |
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Cryptorchidism, Macroglossia, Ventricular septal defect, Patent ductus arteriosus, Protruding ton... |
OMIM:612938 |
| Rhizomelic Limb Shortening With Dysmorphic Features |
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Long philtrum, Rhizomelia, Stage 1 chronic kidney disease, Smooth philtrum, Laryngomalacia, Wide ... |
OMIM:618821 |
| Mandibulofacial Dysostosis, Guion-Almeida Type |
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Atrial septal defect, Short nose, Ventricular septal defect, Deep philtrum, Choanal atresia, Esop... |
OMIM:610536 |
| Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
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Short femur, Short nose, Ventricular septal defect, Pleural effusion, Micropenis, Limb undergrowt... |
OMIM:616897 |
| Mosaic Variegated Aneuploidy Syndrome 2 |
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Abnormal lung lobation, Atrial septal defect, Narrow mouth, Bulbous nose, Ventricular septal defe... |
OMIM:614114 |
| Kagami-Ogata Syndrome |
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Long philtrum, Atrial septal defect, Ventricular septal defect, Hypoplasia of the maxilla, Patent... |
OMIM:608149 |
| Distal Trisomy 18Q |
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Cryptorchidism, Carious teeth, Short nose, Abnormality of dental morphology, Choanal atresia, Hyp... |
ORPHA:1716 |
| Odontochondrodysplasia |
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Delayed eruption of teeth, Short nose, Micromelia, Patent ductus arteriosus, Dentinogenesis imper... |
ORPHA:166272 |
| Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome |
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Prominent nasolabial fold, Short nose, Downturned corners of mouth, Open mouth, Abnormal heart mo... |
ORPHA:391372 |
| Ohdo Syndrome |
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Long philtrum, Thin vermilion border, Cryptorchidism, Hypoplasia of teeth, Narrow mouth, Short no... |
OMIM:249620 |
| Bardet-Biedl Syndrome 17 |
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Dextrocardia, Situs inversus totalis, Renal cyst, Stage 5 chronic kidney disease |
OMIM:615994 |
| Kniest-Like Dysplasia With Pursed Lips And Ectopia Lentis |
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Platyspondyly, Flexion contracture, Absent ossification of capital femoral epiphysis, Cervical ky... |
OMIM:245160 |
| Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness |
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Scoliosis, Platyspondyly, Distal ulnar epiphyseal stippling, Beaking of vertebral bodies, Delayed... |
OMIM:609616 |
| Orofaciodigital Syndrome Type 5 |
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Enamel hypoplasia, Accessory oral frenulum, Crossed fused renal ectopia, Abnormality of the philt... |
ORPHA:2919 |
| Osteogenesis Imperfecta, Type Xvii |
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Scoliosis, Platyspondyly, Vertebral compression fracture, Osteoporosis |
OMIM:616507 |
| Suleiman-El-Hattab Syndrome |
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Long philtrum, Cryptorchidism, Atrial septal defect, Drooling, Downturned corners of mouth, Ventr... |
OMIM:618950 |
| Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome |
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Osteoporosis, Platyspondyly |
ORPHA:71267 |
| Distal Tetrasomy 15Q |
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Hydrocele testis, Atrial septal defect, Horseshoe kidney, Abnormal heart morphology, Patent ductu... |
ORPHA:314588 |
| Trigonocephaly-Short Stature-Developmental Delay Syndrome |
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Ventricular septal defect, Wide nasal bridge, Large beaked nose, Broad secondary alveolar ridge, ... |
ORPHA:3369 |
| Pseudoachondroplasia |
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Scoliosis, Platyspondyly, Limited elbow extension, Irregular carpal bones, Genu valgum, Joint lax... |
OMIM:177170 |
| Geroderma Osteodysplastica |
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Scoliosis, Platyspondyly, Osteoporosis, Abnormal bone ossification, Biconcave vertebral bodies, A... |
ORPHA:2078 |
| Lessel-Kreienkamp Syndrome |
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Atrial septal defect, Open mouth, Patent ductus arteriosus, Wide nasal bridge, Thin upper lip ver... |
OMIM:619149 |
| Intellectual Disability-Hypoplastic Corpus Callosum-Preauricular Tag Syndrome |
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