Nanophthalmos 1 |
|
Bilateral microphthalmos |
OMIM:600165 |
Microphthalmia, Isolated 7 |
|
Microphthalmia |
OMIM:613704 |
Nanophthalmos 2 |
|
Microphthalmia |
OMIM:609549 |
Polycystic Kidney Disease 5 |
|
Stage 5 chronic kidney disease, Hepatosplenomegaly, Polycystic kidney dysplasia, Reduced renal co... |
OMIM:617610 |
Pierre Robin Syndrome |
|
Glossoptosis, Pierre-Robin sequence, Cleft palate |
OMIM:261800 |
Tricuspid Atresia |
|
Ventricular septal defect, Patent foramen ovale, Hypoplasia of right ventricle, Coarctation of ao... |
ORPHA:1209 |
Isolated Pierre Robin Syndrome |
|
Glossoptosis, Cleft palate |
ORPHA:718 |
Congenital Megacalycosis |
|
Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne... |
ORPHA:93109 |
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:85275 |
Conotruncal Heart Malformations |
|
Complete atrioventricular canal defect, Double outlet right ventricle, Coarctation of aorta, Tran... |
OMIM:217095 |
Melkersson-Rosenthal Syndrome |
|
Furrowed tongue |
OMIM:155900 |
Pierre Robin Sequence With Facial And Digital Anomalies |
|
Glossoptosis, Pierre-Robin sequence, Cleft palate |
OMIM:311895 |
Cayler Cardiofacial Syndrome |
|
Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect |
OMIM:125520 |
Poland Syndrome |
|
Syndactyly, Unilateral oligodactyly, Unilateral absence of pectoralis major muscle, Dextrocardia,... |
OMIM:173800 |
Transposition Of The Great Arteries, Dextro-Looped |
|
Transposition of the great arteries |
OMIM:608808 |
Congenital Heart Defects, Multiple Types, 6 |
|
Ventricular septal defect, Hypoplastic pulmonary veins, Secundum atrial septal defect, Complete a... |
OMIM:613854 |
Immunodeficiency, Common Variable, 6 |
|
Hepatomegaly, Glomerulonephritis, Stage 5 chronic kidney disease, Mesangial Immune complex deposi... |
OMIM:613496 |
Microphthalmia, Isolated 1 |
|
Microphthalmia, Anophthalmia |
OMIM:251600 |
Heterotaxy, Visceral, 4, Autosomal |
|
Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, Dextrotransposit... |
OMIM:613751 |
Premature Ovarian Failure 12 |
|
Microphthalmia |
OMIM:616947 |
Congenital Heart Defects, Multiple Types, 9 |
|
Mitral atresia, Aortopulmonary collateral arteries, Arteria lusoria, Double outlet right ventricl... |
OMIM:620294 |
Microphthalmia, Isolated 2 |
|
Microphthalmia |
OMIM:610093 |
Microphthalmia, Isolated, With Coloboma 6 |
|
Hypoplasia of the fovea, Bilateral microphthalmos, Optic disc hypoplasia |
OMIM:613703 |
Heterotaxy, Visceral, 6, Autosomal |
|
Dextrocardia, Situs inversus totalis, Double outlet right ventricle, Right aortic arch, Hypoplast... |
OMIM:614779 |
Microphthalmia, Isolated, With Cataract 1 |
|
Microphthalmia |
OMIM:156850 |
Vesicoureteral Reflux 2 |
|
Vesicoureteral reflux, Renal hypoplasia |
OMIM:610878 |
Genitopalatocardiac Syndrome |
|
Right aortic arch, Double outlet right ventricle, Ventricular septal defect, Transposition of the... |
OMIM:231060 |
Focal Segmental Glomerulosclerosis 7 |
|
Proteinuria, Stage 5 chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis... |
OMIM:616002 |
16P13.11 Microduplication Syndrome |
|
Ventricular septal defect, Coarctation of aorta, Transposition of the great arteries, Atrial sept... |
ORPHA:261243 |
Nephronophthisis 16 |
|
Renal insufficiency, Stage 5 chronic kidney disease, Polycystic kidney dysplasia, Nephronophthisi... |
OMIM:615382 |
Ophthalmoplegia, Progressive, With Scrotal Tongue And Mental Deficiency |
|
Furrowed tongue |
OMIM:165150 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Levotransposition of the great arteries, Abnormal coronary artery morphology, Ventricular septal ... |
ORPHA:860 |
Congenital Anomalies Of Kidney And Urinary Tract 3 |
|
Multicystic kidney dysplasia, Ectopic kidney, Renal hypoplasia, Vesicoureteral reflux, Hydronephr... |
OMIM:618270 |
Palatopharyngeal Incompetence |
|
Velopharyngeal insufficiency, Cleft palate |
OMIM:167500 |
Microphthalmia, Isolated, With Coloboma 4 |
|
Microphthalmia |
OMIM:251505 |
Robin Sequence-Oligodactyly Syndrome |
|
Glossoptosis, Cleft palate, Abnormality of the dentition |
ORPHA:3104 |
Atrioventricular Septal Defect 5 |
|
Muscular ventricular septal defect, Atrioventricular canal defect, Hypoplastic left heart |
OMIM:614474 |
Hepatorenocardiac Degenerative Fibrosis |
|
Renal cyst, Hepatosplenomegaly, Tubular luminal dilatation, Renal interstitial fibrosis, Reduced ... |
OMIM:619902 |
Heterotaxy, Visceral, 7, Autosomal |
|
Dextrocardia, Mitral atresia, Situs inversus totalis, Common atrium, Hypoplasia of right ventricl... |
OMIM:616749 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3 |
|
Microphthalmia |
OMIM:616335 |
Heart Defects-Limb Shortening Syndrome |
|
Atrial septal defect, Ventricular septal defect, Mesomelic/rhizomelic limb shortening, Abnormal r... |
ORPHA:1354 |
Microphthalmia, Isolated, With Coloboma 7 |
|
Microphthalmia |
OMIM:614497 |
Cleft Palate With Or Without Ankyloglossia, X-Linked |
|
Ankyloglossia, Bifid uvula, Cleft palate |
OMIM:303400 |
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 2 |
|
Hydrocele testis, Muscular ventricular septal defect, Brachydactyly, Adducted thumb |
OMIM:620062 |
Gombo Syndrome |
|
Microphthalmia |
OMIM:233270 |
Fallot Complex With Severe Mental And Growth Retardation |
|
Double outlet right ventricle, Tetralogy of Fallot, Ventricular septal defect, Pulmonic stenosis |
OMIM:601127 |
Preeclampsia/Eclampsia 1 |
|
Elevated hepatic transaminase, Hypertension, Edema, Intrauterine growth retardation |
OMIM:189800 |
Cardiomyopathy, Dilated, 2H |
|
Secundum atrial septal defect, Muscular ventricular septal defect, Reduced left ventricular eject... |
OMIM:620203 |
Femoral-Facial Syndrome |
|
Short femur, Cryptorchidism, Rib fusion, Abnormal rib morphology, Coxa vara, Abnormal fibula morp... |
ORPHA:1988 |
Cardiomyopathy, Familial Hypertrophic, 4 |
|
First degree atrioventricular block, Cardiomegaly, Atrioventricular block, Left bundle branch blo... |
OMIM:115197 |
Microphthalmia, Isolated, With Coloboma 3 |
|
Microphthalmia |
OMIM:610092 |
Isolated Right Ventricular Hypoplasia |
|
Tricuspid regurgitation, Abnormal atrioventricular conduction, Cardiomegaly, Right ventricular fa... |
ORPHA:439 |
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies |
|
Microphthalmia |
OMIM:251700 |
Meacham Syndrome |
|
Bicuspid aortic valve, Ventricular septal defect, Dextrocardia, Aplasia of the right hemidiaphrag... |
OMIM:608978 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Splenomegaly, Hepatomegaly, Enlarged kidney |
OMIM:615285 |
Becker Nevus Syndrome |
|
Micromelia, Pectus excavatum, Abnormal tibia morphology, Rib fusion, Pectus carinatum, Supernumer... |
ORPHA:64755 |
Uvula, Bifid |
|
Bifid uvula |
OMIM:192100 |
Cardiomyopathy, Dilated, 2D |
|
Perinuclear cardiomyocyte vacuolization, Tricuspid regurgitation, Muscular ventricular septal def... |
OMIM:619371 |
Spondylocostal Dysostosis 3, Autosomal Recessive |
|
Contracture of the proximal interphalangeal joint of the 2nd finger, Rib fusion, Slender finger |
OMIM:609813 |
Nephronophthisis 2 |
|
Absence of renal corticomedullary differentiation, Stage 5 chronic kidney disease, Chronic tubulo... |
OMIM:602088 |
Right Atrial Isomerism |
|
Right atrial isomerism, Ventricular septal defect, Dextrocardia, Aortopulmonary collateral arteri... |
OMIM:208530 |
Heterotaxy, Visceral, 12, Autosomal |
|
Dextrotransposition of the great arteries, Atrial septal defect, Pulmonary artery atresia, Patent... |
OMIM:619702 |
Ventricular Septal Defect 1 |
|
Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Atrioventricular canal defect... |
OMIM:614429 |
Renal Dysplasia |
|
Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure... |
ORPHA:93108 |
Microphthalmia, Isolated, With Coloboma 5 |
|
Microphthalmia, Anophthalmia, Bilateral microphthalmos |
OMIM:611638 |
Microphthalmia, Isolated, With Coloboma 10 |
|
Microphthalmia, Anophthalmia |
OMIM:616428 |
Isolated Congenital Hypoglossia/Aglossia |
|
Microglossia, Cleft palate |
ORPHA:141152 |
Left Ventricular Noncompaction 7 |
|
Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy |
OMIM:615092 |
Birk-Aharoni Syndrome |
|
Cryptorchidism, Muscular ventricular septal defect, Macrocytic anemia |
OMIM:620071 |
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta |
|
Ventricular septal defect, Patent ductus arteriosus, Arteria lusoria, Abnormal aortic arch morpho... |
ORPHA:99050 |
Aa Amyloidosis |
|
Hepatomegaly, Proteinuria, Abnormality of the kidney, Chronic kidney disease, Nephrotic syndrome,... |
ORPHA:85445 |
Cardiomyopathy, Dilated, 1R |
|
Myofiber disarray, Dilated cardiomyopathy, Cardiomyocyte hypertrophy, Left ventricular noncompact... |
OMIM:613424 |
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome |
|
Finger syndactyly, Abnormal rib morphology, Pectus carinatum, Radioulnar synostosis, Clinodactyly... |
ORPHA:3268 |
Congenital Disorder Of Glycosylation, Type Iig |
|
Thoracic scoliosis, Rhizomelia, Cryptorchidism, Thrombocytopenia, Squared iliac bones, Rib fusion... |
OMIM:611209 |
Congenital Heart Defects, Multiple Types, 4 |
|
Ventricular septal defect, Coarctation of aorta, Hypoplastic left heart, Aortic valve stenosis, A... |
OMIM:615779 |
Microphthalmia, Isolated 4 |
|
Microphthalmia |
OMIM:613094 |
Nanophthalmos 4 |
|
Microphthalmia |
OMIM:615972 |
Cardiac Diverticulum |
|
Bicuspid aortic valve, Bicuspid pulmonary valve, Pulmonary artery hypoplasia, Atrial septal defec... |
ORPHA:1686 |
Truncus Arteriosus |
|
Abnormal coronary artery morphology, Anomalous origin of one pulmonary artery from ascending aort... |
ORPHA:3384 |
Holt-Oram Syndrome |
|
Abnormal clavicle morphology, Paroxysmal atrial fibrillation, First degree atrioventricular block... |
ORPHA:392 |
Sandestig-Stefanova Syndrome |
|
Rocker bottom foot, Muscular ventricular septal defect, Perimembranous ventricular septal defect,... |
OMIM:618804 |
Nanophthalmos |
|
Microphthalmia |
ORPHA:35612 |
Microphthalmia, Syndromic 16 |
|
Microphthalmia, Anophthalmia |
OMIM:611038 |
Fetal Trimethadione Syndrome |
|
Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Transposition of the great ... |
ORPHA:1913 |
Metaphyseal Chondrodysplasia, Schmid Type |
|
Broad proximal phalanges of the hand, Bowing of the legs, Short tubular bones of the hand, Proxim... |
ORPHA:174 |
Jeune Syndrome |
|
Abnormal clavicle morphology, Toe syndactyly, Micromelia, Postaxial hand polydactyly, Short thora... |
ORPHA:474 |
Autosomal Dominant Otospondylomegaepiphyseal Dysplasia |
|
Glossoptosis, Cleft palate, Long philtrum |
ORPHA:166100 |
Spondylometaphyseal Dysplasia, Type A4 |
|
Brachydactyly, Coxa valga, Metaphyseal sclerosis, Enlargement of the costochondral junction, Meta... |
OMIM:609052 |
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome |
|
Premature ovarian insufficiency, Overlapping toe, Left-to-right shunt, Endometriosis, Muscular ve... |
ORPHA:363444 |
Congenital Heart Defects, Multiple Types, 5 |
|
Bicuspid aortic valve, Ventricular septal defect, Dilated cardiomyopathy, Aortic valve stenosis, ... |
OMIM:617912 |
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly |
|
Tapered finger, Short 3rd toe, Short thumb, Muscular ventricular septal defect, Split hand, Intri... |
OMIM:618569 |
Auriculocondylar Syndrome 2A |
|
Dental crowding, Microglossia, Dental malocclusion, Cleft palate, Mandibular condyle hypoplasia, ... |
OMIM:614669 |
Hartnup Disorder |
|
Glossitis |
OMIM:234500 |
Autosomal Recessive Spondylocostal Dysostosis |
|
Rib segmentation abnormalities, Finger syndactyly, Camptodactyly of finger, Congenital diaphragma... |
ORPHA:2311 |
Burning Mouth Syndrome |
|
Abnormality of taste sensation, Parageusia, Abnormality of the gingiva, Strawberry tongue, Xerost... |
ORPHA:353253 |
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome |
|
Enlarged polycystic ovaries, Enlarged kidney |
ORPHA:90301 |
Criss-Cross Heart |
|
Ventricular septal defect, Tricuspid stenosis, Transposition of the great arteries, Pulmonic sten... |
ORPHA:1461 |
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence |
|
Submucous cleft hard palate, Posteriorly placed tongue, Pierre-Robin sequence |
OMIM:192445 |
Heterotaxy, Visceral, 2, Autosomal |
|
Dextrocardia, Situs inversus totalis, Atrioventricular canal defect, Left atrial isomerism, Trans... |
OMIM:605376 |
Congenital Anomalies Of Kidney And Urinary Tract 1 |
|
Unilateral renal agenesis, Stage 5 chronic kidney disease, Renal hypoplasia, Vesicoureteral reflu... |
OMIM:610805 |
Catel-Manzke Syndrome |
|
Glossoptosis, Oral synechia, Cleft palate |
ORPHA:1388 |
Dilated Cardiomyopathy With Ataxia |
|
Elevated hepatic transaminase, Prolonged QT interval, Bilateral cryptorchidism, Microvesicular he... |
ORPHA:66634 |
Meacham Syndrome |
|
Ventricular septal defect, Congenital diaphragmatic hernia, Situs inversus totalis, Patent ductus... |
ORPHA:3097 |
Poirier-Bienvenu Neurodevelopmental Syndrome |
|
Downturned corners of mouth, Open mouth, Smooth philtrum, Protruding tongue |
OMIM:618732 |
Cataract 11, Multiple Types |
|
Microphthalmia |
OMIM:610623 |
Congenital Anomalies Of Kidney And Urinary Tract 2 |
|
Renal dysplasia, Renal insufficiency, Hydroureter, Renal hypoplasia, Congenital megaureter, Urete... |
OMIM:143400 |
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome |
|
Microphthalmia |
ORPHA:1574 |
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy |
|
Ventricular septal defect, Dextrocardia, Thoracic aortic aneurysm, Patent ductus arteriosus, Part... |
OMIM:619657 |
Peroxisome Biogenesis Disorder 8A (Zellweger) |
|
Glossoptosis |
OMIM:614876 |
Fryns Microphthalmia Syndrome |
|
Microphthalmia, Anophthalmia, Neural tube defect |
OMIM:600776 |
Meckel Syndrome, Type 8 |
|
Enlarged kidney, Polycystic kidney dysplasia, Hyperechogenic kidneys |
OMIM:613885 |
8P23.1 Microdeletion Syndrome |
|
Congenital diaphragmatic hernia, Pulmonary artery stenosis, Patent ductus arteriosus, Hypertrophi... |
ORPHA:251071 |
Bifid Uvula |
|
Submucous cleft soft palate, Cleft lip, Bifid uvula |
ORPHA:99771 |
Van Der Woude Syndrome 1 |
|
Cleft upper lip, Lower lip pit, Cleft palate, Hypodontia, Bifid uvula |
OMIM:119300 |
Metatropic Dysplasia |
|
Abnormal metaphyseal vascular invasion, Flexion contracture, Long coccyx, Halberd-shaped pelvis, ... |
OMIM:156530 |
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties |
|
Rocker bottom foot, Tapered finger, Pericardial effusion, Multiple muscular ventricular septal de... |
OMIM:620070 |
Orofacial Cleft 13 |
|
Oligodontia, Cleft soft palate |
OMIM:613857 |
Sotos Syndrome |
|
Ventricular septal defect, Cryptorchidism, Muscular ventricular septal defect, Long metacarpals, ... |
OMIM:117550 |
Intellectual Developmental Disorder, Autosomal Dominant 66 |
|
Secundum atrial septal defect, Aortic root aneurysm, Transposition of the great arteries, Cerebra... |
OMIM:619910 |
Congenital Primary Aphakia |
|
Microphthalmia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Congenital aphakia |
ORPHA:83461 |
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Hepatomegaly, Ventricular septal defect, Lateral clavicle hook, Splenomegaly, Postaxial hand poly... |
OMIM:615630 |
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia |
|
Tongue atrophy, Tongue fasciculations |
OMIM:613435 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Micromelia, Delayed epiphyseal ossification, Flexion contracture, Preaxial polydactyly, Femoral b... |
OMIM:210710 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4 |
|
Proteinuria, Chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis, Renal ... |
OMIM:613092 |
Hemifacial Atrophy, Progressive |
|
Delayed eruption of teeth, Short mandibular rami, Tongue atrophy, Dental malocclusion |
OMIM:141300 |
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor |
|
Nephroblastoma, Enlarged kidney |
OMIM:618272 |
22Q11.2 Duplication Syndrome |
|
Ventricular septal defect, Hypoplastic left heart, Transposition of the great arteries, Interrupt... |
ORPHA:1727 |
Primary Ciliary Dyskinesia |
|
Abnormal atrial arrangement, Atrial situs ambiguous, Situs inversus totalis, Anomalous pulmonary ... |
ORPHA:244 |
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Abnormal clavicle morphology, Bowing of the long bones, Ventricular septal defect, Rhizomelia, Pr... |
ORPHA:93267 |
Cleft Palate, Deafness, And Oligodontia |
|
No permanent dentition, Oligodontia of primary teeth, Cleft soft palate |
OMIM:216300 |
Diabetic Embryopathy |
|
Ventricular septal defect, Aplasia/Hypoplasia of the abdominal wall musculature, Abnormal aortic ... |
ORPHA:1926 |
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Hepatomegaly, Renal insufficiency, Absence of renal corticomedullary differentiation, Splenomegal... |
OMIM:263200 |
Cleft Soft Palate |
|
Cleft soft palate |
OMIM:119570 |
Deafness-Craniofacial Syndrome |
|
Short lingual frenulum, Abnormality of the dentition, Patent ductus arteriosus, Short philtrum, B... |
ORPHA:3241 |
Heterotaxy, Visceral, 1, X-Linked |
|
Cardiomegaly, Dextrotransposition of the great arteries, Atrial septal defect, Atrioventricular c... |
OMIM:306955 |
Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Dextrocardia, Transposition of the great arteries, Neonatal death, Atrioventricular canal defect,... |
OMIM:314390 |
Macrosomia-Microphthalmia-Cleft Palate Syndrome |
|
Microphthalmia |
ORPHA:2432 |
Auriculocondylar Syndrome 3 |
|
Glossoptosis, Bifid uvula |
OMIM:615706 |
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects |
|
Macroglossia, Patent foramen ovale, Transposition of the great arteries |
OMIM:616789 |
Autosomal Dominant Polycystic Kidney Disease |
|
Renal insufficiency, Recurrent urinary tract infections, Chronic kidney disease, Stage 5 chronic ... |
ORPHA:730 |
Proximal 16P11.2 Microdeletion Syndrome |
|
Dextrocardia, Congenital diaphragmatic hernia, Rib fusion, Abnormal heart morphology, Hand polyda... |
ORPHA:261197 |
Tetralogy Of Fallot And Glaucoma |
|
Tetralogy of Fallot |
OMIM:187501 |
Kyphomelic Dysplasia |
|
Bowing of the long bones, Anterior rib cupping, Micromelia, Missing ribs, Lateral clavicle hook, ... |
ORPHA:1801 |
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction |
|
Myofiber disarray, Dilated cardiomyopathy, Cardiomyocyte hypertrophy, Left ventricular noncompact... |
OMIM:612158 |
Alg12-Cdg |
|
Elevated hepatic transaminase, Sandal gap, Proximal placement of thumb, Long fingers, Muscular ve... |
ORPHA:79324 |
Spondylocostal Dysostosis 4, Autosomal Recessive |
|
Dextrocardia, Missing ribs, Situs inversus totalis, Pectus excavatum, Short thorax, Rib fusion, B... |
OMIM:613686 |
Epilepsy, Progressive Myoclonic, 9 |
|
Microglossia |
OMIM:616540 |
Femoral-Facial Syndrome |
|
Short third metatarsal, Short humerus, Short fourth metatarsal, Toe syndactyly, Ventricular septa... |
OMIM:134780 |
Neurogenic Thoracic Outlet Syndrome |
|
Abnormal rib morphology |
ORPHA:100073 |
Robinow Syndrome, Autosomal Recessive 1 |
|
Short palm, Duplication of the distal phalanx of hand, Dislocated radial head, Radial bowing, Wid... |
OMIM:268310 |
Autosomal Recessive Multiple Pterygium Syndrome |
|
Finger syndactyly, Skeletal muscle atrophy, Camptodactyly of finger, Pectus excavatum, Cryptorchi... |
ORPHA:2990 |
Adams-Oliver Syndrome 4 |
|
Microphthalmia, Umbilical hernia |
OMIM:615297 |
Houge-Janssens Syndrome 3 |
|
Atrial septal defect, Muscular ventricular septal defect |
OMIM:618354 |
Autosomal Dominant Spondylocostal Dysostosis |
|
Missing ribs, Short thorax, Abnormal rib morphology, Posterior rib fusion, Spina bifida occulta |
ORPHA:1797 |
Pallister-Hall Syndrome |
|
Syndactyly, Mesoaxial foot polydactyly, Ventricular septal defect, Toe syndactyly, Mesoaxial hand... |
OMIM:146510 |
Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome |
|
Furrowed tongue |
ORPHA:2743 |
Aortic Arch Interruption |
|
Bicuspid aortic valve, Ventricular septal defect, Patent ductus arteriosus, Aortic valve atresia,... |
ORPHA:2299 |
Hemifacial Hyperplasia With Strabismus |
|
Submucous cleft hard palate |
OMIM:141350 |
Acromesomelic Dysplasia 2A |
|
Hypoplasia of the ulna, Short humerus, Short femur, Aplasia/Hypoplasia of the patella, Postaxial ... |
OMIM:200700 |
Orofaciodigital Syndrome Type 5 |
|
Median cleft lip, Abnormality of the philtrum, Cleft soft palate, Accessory oral frenulum, Agangl... |
ORPHA:2919 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3 |
|
Bicuspid aortic valve, Anomalous origin of left coronary artery from the pulmonary artery, Patent... |
OMIM:618845 |
Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Hepatomegaly, Malformation of the hepatic ductal plate, Asplenia, Situs inversus totalis, Cholest... |
OMIM:615415 |
Autosomal Recessive Robinow Syndrome |
|
Pectus carinatum, Abnormal tricuspid valve morphology, Clinodactyly of the 5th finger, Atrial sep... |
ORPHA:1507 |
Holt-Oram Syndrome |
|
Thoracic scoliosis, Secundum atrial septal defect, Aplasia of the pectoralis major muscle, Abnorm... |
OMIM:142900 |
Heart Defects, Congenital, And Other Congenital Anomalies |
|
Hypoplastic tricuspid valve, Double outlet left ventricle, Ventricular septal defect, Congenital ... |
OMIM:600001 |
Spondylocostal Dysostosis 2, Autosomal Recessive |
|
Rib fusion |
OMIM:608681 |
Metaphyseal Chondrodysplasia, Schmid Type |
|
Broad femoral neck, Distal tibial bowing, Metaphyseal chondrodysplasia, Metaphyseal widening, Met... |
OMIM:156500 |
Kyphoscoliosis-Lateral Tongue Atrophy-Hereditary Spastic Paraplegia Syndrome |
|
Tongue atrophy |
ORPHA:496689 |
Microphthalmia, Isolated 6 |
|
Microphthalmia |
OMIM:613517 |
Multiple Pterygium Syndrome, Escobar Variant |
|
Multiple joint contractures, Congenital diaphragmatic hernia, Flexion contracture, Knee flexion c... |
OMIM:265000 |
Bencze Syndrome |
|
Open bite, Submucous cleft hard palate |
ORPHA:1241 |
Myasthenic Syndrome, Congenital, 10 |
|
Tongue atrophy |
OMIM:254300 |
Left Ventricular Noncompaction 1 |
|
Noncompaction cardiomyopathy, Ventricular septal defect, Left ventricular noncompaction cardiomyo... |
OMIM:604169 |
Thoracoabdominal Syndrome |
|
Patent ductus arteriosus, Transposition of the great arteries, Congenital diaphragmatic hernia, E... |
OMIM:313850 |
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly |
|
Lateral clavicle hook, Postaxial hand polydactyly, Postaxial foot polydactyly, Trident acetabulum... |
OMIM:617405 |
Auriculocondylar Syndrome 1 |
|
Dental crowding, Dental malocclusion, Cleft palate, Mandibular condyle hypoplasia, Anterior open-... |
OMIM:602483 |
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly |
|
Syndactyly, Ventricular septal defect, Pancreatic fibrosis, Postaxial polydactyly, Lateral clavic... |
OMIM:615503 |
Facial Clefting, Oblique, 1 |
|
Microphthalmia |
OMIM:600251 |
Hypoglossia With Situs Inversus |
|
Microglossia, High palate, Hypodontia, Narrow mouth |
OMIM:612776 |
Porencephaly, Cerebellar Hypoplasia, And Internal Malformations |
|
Situs inversus totalis, Atrial septal defect, Tetralogy of Fallot |
OMIM:601322 |
Carpenter Syndrome 1 |
|
Ventricular septal defect, Patent ductus arteriosus, Joint contracture of the hand, Transposition... |
OMIM:201000 |
Whistling Face Syndrome, Recessive Form |
|
Whistling appearance, Narrow mouth, High palate, Long philtrum, Microglossia |
OMIM:277720 |
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type |
|
Dysplastic iliac wing, Metaphyseal spurs, Micromelia, Bowing of the legs, Pectus excavatum, Metap... |
OMIM:608728 |
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects |
|
Pectus excavatum, Muscular ventricular septal defect, Spina bifida occulta, Sprengel anomaly |
OMIM:619227 |
Heterotaxy, Visceral, 5, Autosomal |
|
Right atrial isomerism, Ventricular septal defect, Dextrocardia, Patent ductus arteriosus, Partia... |
OMIM:270100 |
Foveal Hypoplasia 2 |
|
Hypoplasia of the fovea, Microphthalmia |
OMIM:609218 |
Acrocapitofemoral Dysplasia |
|
Micromelia, Short proximal phalanx of thumb, Coxa vara, Pectus carinatum, Narrow chest, Short pal... |
OMIM:607778 |
Weiss-Kruszka Syndrome |
|
Left ventricular hypertrophy, Ventricular septal defect, Bicuspid aortic valve, Dextrotranspositi... |
OMIM:618619 |
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction |
|
Left ventricular noncompaction, Dilated cardiomyopathy, Endocardial fibrosis, Left ventricular hy... |
OMIM:601493 |
Endosteal Hyperostosis, Worth Type |
|
Clavicular sclerosis, Abnormal rib morphology, Facial palsy, Diaphyseal thickening |
ORPHA:2790 |
Congenital Varicella Syndrome |
|
Microphthalmia |
ORPHA:291 |
Microphthalmia, Isolated, With Corectopia |
|
Microphthalmia |
OMIM:156900 |
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome |
|
Submucous cleft hard palate, Bifid uvula, Cleft palate |
ORPHA:2521 |
Lipoid Proteinosis |
|
Abnormal oral mucosa morphology, Abnormality of the gingiva, Thick lower lip vermilion, High pala... |
ORPHA:530 |
Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Short metacarpal, Micromelia, Short metatarsal, Abnormal rib morphology, Abnormal carpal morpholo... |
ORPHA:93351 |
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1 |
|
Perimembranous ventricular septal defect, Transposition of the great arteries, Pulmonic stenosis |
OMIM:617877 |
Solar Urticaria |
|
Abnormal lip morphology, Abnormal tongue morphology |
ORPHA:97230 |
Cardiospondylocarpofacial Syndrome |
|
Carpal synostosis, Ventricular septal defect, Tarsal synostosis, Congenital diaphragmatic hernia,... |
OMIM:157800 |
Charcot-Marie-Tooth Disease, Axonal, Type 2S |
|
Tongue atrophy |
OMIM:616155 |
Feingold Syndrome Type 1 |
|
Toe syndactyly, Tricuspid stenosis, Short middle phalanx of the 5th finger, Short middle phalanx ... |
ORPHA:391641 |
Craniotelencephalic Dysplasia |
|
Microphthalmia, Frontal encephalocele, Optic nerve hypoplasia |
OMIM:218670 |
Ankyloglossia With Or Without Tooth Anomalies |
|
Supernumerary tooth, Ankyloglossia |
OMIM:106280 |
Shwachman-Diamond Syndrome 1 |
|
Metaphyseal chondrodysplasia, Metaphyseal widening, Proximal femoral metaphyseal irregularity, Co... |
OMIM:260400 |
Cerebrooculofacioskeletal Syndrome 3 |
|
Microphthalmia |
OMIM:616570 |
Orofaciodigital Syndrome Xv |
|
Lobulated tongue, Midline notch of upper alveolar ridge |
OMIM:617127 |
Cleft Velum |
|
Velopharyngeal insufficiency, Cleft soft palate |
ORPHA:99772 |
Coffin-Siris Syndrome 11 |
|
Cleft soft palate, Esophageal atresia, Downturned corners of mouth, Wide mouth, High palate, Bifi... |
OMIM:618779 |
Weismann-Netter Syndrome |
|
Bowing of the long bones, Abnormal morphology of ulna, Abnormality of the humerus, Abnormal tibia... |
ORPHA:3344 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Skeletal muscle atrophy, Dilated cardiomyopathy, Flexion contracture, Myocardial fibrosis, Calf m... |
OMIM:253800 |
Adams-Oliver Syndrome 6 |
|
Syndactyly, Tricuspid regurgitation, Ventricular septal defect, Portal hypertension, Splenomegaly... |
OMIM:616589 |
Mmep Syndrome |
|
Microphthalmia |
ORPHA:3434 |
Cataract-Intellectual Disability-Hypogonadism Syndrome |
|
Furrowed tongue, Everted lower lip vermilion, High palate, Short philtrum, Tooth malposition |
ORPHA:1387 |
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome |
|
Abnormal rib morphology |
ORPHA:2435 |
Craniodiaphyseal Dysplasia |
|
Abnormal rib morphology, Diaphyseal thickening |
ORPHA:1513 |
Rhizomelic Chondrodysplasia Punctata, Type 5 |
|
Short humerus, Thoracic scoliosis, Swan neck-like deformities of the fingers, Skeletal muscle atr... |
OMIM:616716 |
Ververi-Brady Syndrome |
|
Transposition of the great arteries |
OMIM:617982 |
Scimitar Syndrome |
|
Pulmonary artery hypoplasia, Hypoplasia of the diaphragm, Atrial septal defect, Single ventricle,... |
ORPHA:185 |
Wolf-Hirschhorn Syndrome |
|
Rib segmentation abnormalities, Hypoplastic pubic ramus, Abnormal heart valve morphology, Arachno... |
ORPHA:280 |
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome |
|
High, narrow palate, Glossoptosis, Submucous cleft hard palate, Hypodontia |
ORPHA:3201 |
Heterotaxy, Visceral, 8, Autosomal |
|
Atrial situs inversus, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Aortopulm... |
OMIM:617205 |
Orofaciodigital Syndrome Iii |
|
Supernumerary tooth, Tongue nodules, Microdontia, Bifid tongue, Bifid uvula |
OMIM:258850 |
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly |
|
Postaxial polydactyly, Lateral clavicle hook, Cryptorchidism, Bell-shaped thorax, Short long bone... |
OMIM:615633 |
Aorta Coarctation |
|
Bicuspid aortic valve, Pseudocoarctation of the aorta, Cardiomegaly, Patent ductus arteriosus, Hy... |
ORPHA:1457 |
Spondylocostal Dysostosis 1, Autosomal Recessive |
|
Rib fusion |
OMIM:277300 |
Spondylocostal Dysostosis 5 |
|
Pectus carinatum, Posterior rib fusion, Supernumerary ribs, Missing ribs |
OMIM:122600 |
Cardiac Valvular Dysplasia 1 |
|
Tricuspid regurgitation, Ventricular septal defect, Left atrial enlargement, Tricuspid stenosis, ... |
OMIM:212093 |
Deafness, Congenital Heart Defects, And Posterior Embryotoxon |
|
Tetralogy of Fallot, Ventricular septal defect, Peripheral pulmonary artery stenosis |
OMIM:617992 |
1P36 Deletion Syndrome |
|
Abnormality of the spleen, Abnormality of the liver, Clinodactyly of the 5th finger, Hepatic stea... |
ORPHA:1606 |
Mesomelic Dysplasia, Kantaputra Type |
|
Camptodactyly of finger, Tarsal synostosis, Abnormality of the humerus, Abnormal rib morphology, ... |
ORPHA:1836 |
Axial Spondylometaphyseal Dysplasia |
|
Thoracic scoliosis, Proximal femoral metaphyseal irregularity, Deformed rib cage, Coxa vara, Narr... |
ORPHA:168549 |
Robinow Syndrome |
|
Syndactyly, Brachydactyly, Ventricular septal defect, Missing ribs, Bifid distal phalanx of the t... |
ORPHA:97360 |
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies |
|
Lower limb hypertonia, Ventricular septal defect, Dextrotransposition of the great arteries |
OMIM:619995 |
Fibrochondrogenesis 1 |
|
Narrow greater sciatic notch, Short palm, Clinodactyly of the 5th finger, Patent foramen ovale, R... |
OMIM:228520 |
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome |
|
Ventricular septal defect, Micromelia, Cryptorchidism, Abnormal rib morphology, Hypoplastic left ... |
ORPHA:2772 |
Partial Atrioventricular Septal Defect |
|
Bicuspid aortic valve, Transient ischemic attack, Coronary sinus enlargement, Partial atrioventri... |
ORPHA:1330 |
Ciliary Dyskinesia, Primary, 39 |
|
Double outlet right ventricle, Dextrocardia |
OMIM:618254 |
Microphthalmia, Isolated 8 |
|
Microphthalmia, Anophthalmia, Optic nerve hypoplasia, True anophthalmia |
OMIM:615113 |
Congenital Heart Defects, Multiple Types, 7 |
|
Absence of the pulmonary valve, Aortopulmonary collateral arteries, Right aortic arch, Pulmonic s... |
OMIM:618780 |
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Syndactyly, Ventricular septal defect, Thoracic hypoplasia, Micromelia, Postaxial polydactyly, La... |
OMIM:617895 |
Dyggve-Melchior-Clausen Disease |
|
Metaphyseal widening, Flat glenoid fossa, Short metatarsal, Pectus carinatum, Femoral bowing, Tib... |
OMIM:223800 |
Lethal Congenital Contracture Syndrome 10 |
|
Thoracic scoliosis, Overriding aorta, Ventricular septal defect, Overlapping fingers, Torticollis... |
OMIM:617022 |
Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome |
|
Patent ductus arteriosus, Bifid tongue, Intestinal malrotation, Bilateral cleft lip and palate |
ORPHA:2001 |
Wolf-Hirschhorn Syndrome |
|
Accessory spleen, Rib segmentation abnormalities, Decreased muscle mass, Ventricular septal defec... |
OMIM:194190 |
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development |
|
Microphthalmia |
OMIM:120433 |
Cog1-Cdg |
|
Rhizomelia, Coxa valga, Rib fusion, Posterior rib gap, Flat acetabular roof, Hepatosplenomegaly, ... |
ORPHA:263508 |
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly |
|
Congenital hip dislocation, Abnormal finger flexion crease, Aplasia/Hypoplasia of the 5th finger,... |
OMIM:228930 |
Metatropic Dysplasia |
|
Camptodactyly of finger, Micromelia, Abnormal rib morphology, Long thorax, Halberd-shaped pelvis,... |
ORPHA:2635 |
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
|
Tricuspid regurgitation, Bicuspid aortic valve, Proximal placement of thumb, Congenital diaphragm... |
ORPHA:1120 |
Amyloidosis, Familial Visceral |
|
Hepatomegaly, Edema, Splenomegaly, Cholestasis, Hypertension |
OMIM:105200 |
Microcephaly-Microcornea Syndrome, Seemanova Type |
|
Microphthalmia |
ORPHA:2528 |
White Forelock With Malformations |
|
Finger syndactyly, Abnormal rib morphology, Clinodactyly of the 5th finger, Atrial septal defect,... |
ORPHA:2475 |
Bent Bone Dysplasia Syndrome 2 |
|
Hepatomegaly, Ulnar deviation of the hand, Bowed humerus, Ulnar bowing, Hypoplastic acetabulae, T... |
OMIM:620076 |
Lethal Omphalocele-Cleft Palate Syndrome |
|
Bifid uvula, Unilateral cleft lip, Cleft soft palate, Cleft palate |
ORPHA:2736 |
Leukodystrophy, Hypomyelinating, 26, With Chondrodysplasia |
|
Glossoptosis, Pierre-Robin sequence, Cleft palate |
OMIM:620269 |
Hypomandibular Faciocranial Dysostosis |
|
Pursed lips, Patent ductus arteriosus, Aglossia |
OMIM:241310 |
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
|
Double outlet left ventricle, Ventricular septal defect, Congenital diaphragmatic hernia, Patent ... |
ORPHA:2255 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8 |
|
Microphthalmia |
OMIM:614830 |
Aortic Valve Disease 1 |
|
Ventricular septal defect, Bicuspid aortic valve, Mitral atresia, Aortic valve calcification, Dou... |
OMIM:109730 |
Nephronophthisis 13 |
|
Global glomerulosclerosis, Proteinuria, Glomerular subepithelial immune-complex deposits, Stage 5... |
OMIM:614377 |
Faciocardiomelic Dysplasia, Lethal |
|
Neonatal death, Microglossia, Narrow mouth |
OMIM:227270 |
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1 |
|
Hyperextensibility of the finger joints, Overlapping toe, Pectus excavatum, Long fingers, Postaxi... |
OMIM:213980 |
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome |
|
Furrowed tongue |
ORPHA:2928 |
Xeroderma Pigmentosum, Complementation Group G |
|
Microphthalmia |
OMIM:278780 |
Kagami-Ogata Syndrome |
|
Hepatomegaly, Long clavicles, Ventricular septal defect, Diastasis recti, Coxa valga, Splenomegal... |
OMIM:608149 |
Craniotelencephalic Dysplasia |
|
Microphthalmia, Septo-optic dysplasia, Frontal encephalocele |
ORPHA:1528 |
Plummer-Vinson Syndrome |
|
Tongue atrophy, Intra-oral hyperpigmentation, Cheilitis, Esophageal web, Narrow mouth, Glossitis |
ORPHA:54028 |
Facioscapulohumeral Muscular Dystrophy 1 |
|
Tongue atrophy |
OMIM:158900 |
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Bicuspid aortic valve, Parachute mitral valve, Asplenia, Posterior rib fusion, Neonatal death, At... |
OMIM:265380 |
Auriculocondylar Syndrome |
|
Dental crowding, Hamartoma of tongue, Narrow mouth, Microglossia, Dental malocclusion, Cleft pala... |
ORPHA:137888 |
Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Radial bowing, Rhizomelia, Ulnar bowing, Flared metaphysis, Coxa vara, Tibial bowing, Femoral bow... |
OMIM:602111 |
Orofaciodigital Syndrome Iv |
|
Hamartoma of tongue, Accessory oral frenulum, Cleft palate, Lobulated tongue, High palate, Tongue... |
OMIM:258860 |
Diaphanospondylodysostosis |
|
Nephrogenic rest, Nephroblastomatosis, Horseshoe kidney, Cystic renal dysplasia, Enlarged kidney |
OMIM:608022 |
Atypical Pantothenate Kinase-Associated Neurodegeneration |
|
Tongue atrophy |
ORPHA:216873 |
Thakker-Donnai Syndrome |
|
Tetralogy of Fallot, Ventricular septal defect, Transposition of the great arteries, Congenital d... |
ORPHA:1780 |
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy |
|
Short metacarpal, Rhizomelia, Cupped ribs, Metaphyseal widening, Coxa vara, Tibial bowing, Femora... |
OMIM:608940 |
Congenital Heart Defects, Multiple Types, 3 |
|
Atrial septal defect, Tetralogy of Fallot, Persistent left superior vena cava, Abnormal heart mor... |
OMIM:614954 |
Baller-Gerold Syndrome |
|
Carpal bone aplasia, Hypoplasia of the ulna, Radial deviation of the hand, Short humerus, Anomalo... |
OMIM:218600 |
Diastrophic Dysplasia |
|
Abnormal clavicle morphology, Bowing of the long bones, Camptodactyly of finger, Proximal placeme... |
ORPHA:628 |
Laryngotracheoesophageal Cleft Type 4 |
|
Abnormality of the spleen, Abnormal mesentery morphology, Abnormal cardiac septum morphology, Abn... |
ORPHA:93941 |
Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Delayed epiphyseal ossification, Long fibula, Narrow chest, Narrow greater sciatic notch, Atrial ... |
OMIM:250220 |
9q subtelomeric deletion syndrome |
|
Protruding tongue |
DECIPHER:52 |
Orofaciodigital Syndrome Xix |
|
Cleft soft palate, Accessory oral frenulum, Carious teeth, Narrow palate, Downturned corners of m... |
OMIM:620107 |
Tetraamelia Syndrome 2 |
|
Glossoptosis, Ankyloglossia, Bilateral cleft lip, Cleft palate |
OMIM:618021 |
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness |
|
Broad toe, Enlarged metacarpal epiphyses, Cupped ribs, Enlarged epiphyses of the phalanges of the... |
OMIM:609616 |
Kbg Syndrome |
|
Syndactyly, Cryptorchidism, Rib fusion, Cutaneous syndactyly, Cervical ribs, Thoracic kyphosis, R... |
OMIM:148050 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Renal dysplasia, Hepatomegaly, Ureteral duplication, Renal insufficiency, Long-chain dicarboxylic... |
OMIM:608836 |
Congenital Heart Defects, Multiple Types, 2 |
|
Bicuspid aortic valve, Ventricular septal defect, Myxomatous mitral valve degeneration, Subvalvul... |
OMIM:614980 |
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language |
|
Downturned corners of mouth, Lobulated tongue, Thin upper lip vermilion, Short philtrum |
OMIM:613443 |
Melnick-Needles Syndrome |
|
Bowing of the long bones, Coxa valga, Short thorax, Abnormal rib morphology, Hip dislocation, Con... |
ORPHA:2484 |
Isolated Klippel-Feil Syndrome |
|
Congenital muscular torticollis, Ventricular septal defect, Abnormal rib morphology, Abnormal sho... |
ORPHA:2345 |
Mucopolysaccharidosis-Plus Syndrome |
|
Hepatomegaly, Proteinuria, Splenomegaly, Nephrotic syndrome, Focal segmental glomerulosclerosis, ... |
OMIM:617303 |
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb |
|
Thin upper lip vermilion, Pierre-Robin sequence, Glossoptosis, High palate, Open mouth |
OMIM:613604 |
Fibrochondrogenesis 2 |
|
Hypoplastic ischia, Hypoplastic ilia, Cupped ribs, Metaphyseal widening, Hypoplastic pubic bone, ... |
OMIM:614524 |
Polysyndactyly With Cardiac Malformation |
|
Syndactyly, Ventricular septal defect, Preaxial hand polydactyly, Duplication of phalanx of hallu... |
OMIM:263630 |
Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Flared metaphysis, Flattened epiphysis, Tibial bowing, Femoral bowing, Small epiphyses, Short low... |
ORPHA:93356 |
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome |
|
Tapered toe, Tapered finger, Bilateral cryptorchidism, Rib fusion, Clinodactyly of the 5th finger |
ORPHA:544488 |
Denys-Drash Syndrome |
|
Diffuse mesangial sclerosis, Stage 5 chronic kidney disease, Nephrotic syndrome, Focal segmental ... |
OMIM:194080 |
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome |
|
Bowing of the long bones, Radial bowing, Splenomegaly, Abnormal rib morphology, Abnormal fibula m... |
ORPHA:3035 |
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma |
|
Microphthalmia |
OMIM:267760 |
Cataract 9, Multiple Types |
|
Microphthalmia |
OMIM:604219 |
Acromesomelic Dysplasia 2C |
|
Hypoplasia of the ulna, Shortening of all middle phalanges of the fingers, Radial bowing, Cuboida... |
OMIM:201250 |
Glycogen Storage Disease Iv |
|
Portal hypertension, Edema, Polyhydramnios, Hydrops fetalis, Hepatosplenomegaly, Cardiomyopathy, ... |
OMIM:232500 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Multiple rib fractures, Short femur, Ventricular septal defect, Fractured radius, Beaded ribs, Ca... |
OMIM:616897 |
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome |
|
Ventricular septal defect, Cryptorchidism, Postaxial hand polydactyly, Abnormal rib morphology, P... |
ORPHA:2519 |
Paternal Uniparental Disomy Of Chromosome 1 |
|
Membranoproliferative glomerulonephritis, Proteinuria, Enlarged kidney, Macroscopic hematuria |
ORPHA:251004 |
Dihydropyrimidine Dehydrogenase Deficiency |
|
Microphthalmia |
OMIM:274270 |
Microphthalmia, Syndromic 3 |
|
Ventricular septal defect, Hypogonadotropic hypogonadism, Missing ribs, Cryptorchidism, Rib fusio... |
OMIM:206900 |
Congenital Total Pulmonary Venous Return Anomaly |
|
Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Mitral atresia, Cardiomegaly, Pa... |
ORPHA:99125 |
Birk-Barel Syndrome |
|
Tented upper lip vermilion, High palate, Short philtrum, Submucous cleft soft palate, Bifid uvula |
OMIM:612292 |
Hypophosphatasia |
|
Bowing of the long bones, Abnormal rib morphology, Narrow chest, Abnormal metaphysis morphology, ... |
ORPHA:436 |
Lethal Faciocardiomelic Dysplasia |
|
Patent ductus arteriosus, Microglossia, Narrow mouth |
ORPHA:1972 |
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
|
Aortic regurgitation, Prominent fingertip pads, Brachydactyly, Mesoaxial foot polydactyly, Bicusp... |
OMIM:612474 |
Cryptophthalmos, Unilateral Or Bilateral, Isolated |
|
Microphthalmia |
OMIM:123570 |
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly |
|
Femoral bowing, Knee flexion contracture, Short 5th metacarpal, Radial bowing, Rhizomelia, Broad ... |
OMIM:618019 |
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Lateral clavicle hook, Early ossification of capital femoral epiphyses, Hepatic fibrosis, Narrow ... |
OMIM:208500 |
Microphthalmia, Syndromic 12 |
|
Microphthalmia, Anophthalmia |
OMIM:615524 |
Mandibulofacial Dysostosis With Alopecia |
|
Dental crowding, Delayed eruption of primary teeth, Cleft palate, Glossoptosis, Everted lower lip... |
OMIM:616367 |
Kyphomelic Dysplasia |
|
Short humerus, Short metacarpal, Radial bowing, Short femur, Anterior rib cupping, Micromelia, Bo... |
OMIM:211350 |
Zttk Syndrome |
|
Aortic regurgitation, Absent gallbladder, Ventricular septal defect, Flexion contracture, Rib fus... |
OMIM:617140 |
Orofaciodigital Syndrome V |
|
Thin upper lip vermilion, Median cleft lip, Aganglionic megacolon, Hamartoma of tongue, Cleft pal... |
OMIM:174300 |
Poland Syndrome |
|
Aplasia/Hypoplasia of the thumb, Congenital diaphragmatic hernia, Aplasia of the pectoralis major... |
ORPHA:2911 |
Cooper-Jabs Syndrome |
|
Ventricular septal defect, Camptodactyly of finger, Proximal placement of thumb, Missing ribs, Co... |
ORPHA:1488 |
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects |
|
Ventricular septal defect, Secundum atrial septal defect, Subvalvular aortic stenosis, Left ventr... |
OMIM:108900 |
Joubert Syndrome 18 |
|
Lobulated tongue, Cleft palate |
OMIM:614815 |
Fanconi Anemia, Complementation Group J |
|
Microphthalmia |
OMIM:609054 |
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome |
|
Microphthalmia, Occipital encephalocele |
ORPHA:324416 |
Clark-Baraitser syndrome |
|
Exaggerated median tongue furrow, Thick lower lip vermilion, Prominent median palatal raphe, Wide... |
OMIM:300602 |
Rhizomelic Dysplasia, Ain-Naz Type |
|
Short humerus, Short femur, Rhizomelia, Hypoplasia of the femoral head, Wide distal femoral metap... |
OMIM:619598 |
Thrombocytopenia-Absent Radius Syndrome |
|
Lateral clavicle hook, Femoral bowing, Abnormal shoulder morphology, Clinodactyly of the 5th fing... |
OMIM:274000 |
Thanatophoric Dysplasia, Type I |
|
Bowing of the long bones, Small abnormally formed scapulae, Hypoplastic ilia, Wide-cupped costoch... |
OMIM:187600 |
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type |
|
Radial bowing, Rhizomelia, Micromelia, Dumbbell-shaped long bone, Hypoplastic ilia, Hypoplastic i... |
OMIM:151210 |
Cartilage-Hair Hypoplasia |
|
Micromelia, Heart block, Metaphyseal chondrodysplasia, Pectus carinatum, Tibial bowing, Narrow ch... |
ORPHA:175 |
Prune Belly Syndrome |
|
Congenital hip dislocation, Ventricular septal defect, Pectus excavatum, Cryptorchidism, Abnormal... |
ORPHA:2970 |
Glycogen Storage Disease Ia |
|
Hepatomegaly, Proteinuria, Nephrolithiasis, Focal segmental glomerulosclerosis, Enlarged kidney, ... |
OMIM:232200 |
Phaver Syndrome |
|
Broad hallux phalanx, Ventricular septal defect, Camptodactyly of finger, Short thumb, Abnormal r... |
ORPHA:2876 |
Alagille Syndrome |
|
Hepatomegaly, Hypoplasia of the ulna, Ventricular septal defect, Telangiectasia of the skin, Cryp... |
ORPHA:52 |
Grant Syndrome |
|
Bowing of the long bones, Abnormal rib morphology, Abnormal pelvic girdle bone morphology, Narrow... |
ORPHA:2097 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Hyperextensibility of the finger joints, Internally rotated shoulders, Flexion contracture, Knee ... |
OMIM:619503 |
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis |
|
Microphthalmia |
OMIM:610023 |
Biemond Syndrome Type 2 |
|
Microphthalmia |
ORPHA:141333 |
Microcephalic Primordial Dwarfism, Toriello Type |
|
Neutropenia, Abnormal rib morphology, Abnormal epiphysis morphology, Brachydactyly |
ORPHA:2643 |
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia |
|
Aplasia/Hypoplasia of the thumb, Short humerus, Long clavicles, Lateral clavicle hook, Absent rad... |
OMIM:171480 |
Fanconi Anemia, Complementation Group G |
|
Microphthalmia |
OMIM:614082 |
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness |
|
Metaphyseal dysplasia, Brachydactyly, Irregular iliac crest, Cupped ribs, Metaphyseal widening, F... |
OMIM:250420 |
Microphthalmia, Syndromic 13 |
|
Microphthalmia |
OMIM:300915 |
Cortical Dysplasia, Complex, With Other Brain Malformations 6 |
|
Microphthalmia |
OMIM:615771 |
Aicardi Syndrome |
|
Missing ribs, Rib fusion, Small hand, Hip dysplasia, Supernumerary ribs, Bifid ribs, Hepatoblastoma |
ORPHA:50 |
Trisomy 8Q |
|
Non-midline cleft lip, Cleft palate, Orofacial cleft, Abnormal oral frenulum morphology, Everted ... |
ORPHA:1752 |
Thoracolaryngopelvic Dysplasia |
|
Metaphyseal widening, Irregular chondrocostal junctions, Bell-shaped thorax, Narrow pelvis bone, ... |
OMIM:187760 |
Cerebrofaciothoracic Dysplasia |
|
Sprengel anomaly, Rib fusion, Narrow chest, Bifid ribs |
ORPHA:1394 |
Glycogen Storage Disease Ib |
|
Hepatomegaly, Proteinuria, Splenomegaly, Nephrolithiasis, Focal segmental glomerulosclerosis, Enl... |
OMIM:232220 |
Mucopolysaccharidosis Type 6 |
|
Epiphyseal dysplasia, Abnormal heart valve morphology, Splenomegaly, Genu valgum, Macroglossia, B... |
ORPHA:583 |
Rhizomelic Chondrodysplasia Punctata, Type 3 |
|
Short humerus, Short femur, Rhizomelia, Epiphyseal stippling |
OMIM:600121 |
Ellis-Van Creveld Syndrome |
|
Capitate-hamate fusion, Postaxial hand polydactyly, Cone-shaped epiphyses of phalanges 2 to 5, Cr... |
OMIM:225500 |
Wrinkly Skin Syndrome |
|
Scapular winging, Congenital hip dislocation, Hypoplasia of the musculature, Pectus excavatum, Wi... |
OMIM:278250 |
Femur-Fibula-Ulna Complex |
|
Short humerus, Finger syndactyly, Abnormal morphology of ulna, Micromelia, Humeroradial synostosi... |
ORPHA:2019 |
Chromosome 1P36 Deletion Syndrome, Distal |
|
Bicuspid aortic valve, Clinodactyly of the 5th finger, Atrial septal defect, Patent foramen ovale... |
OMIM:607872 |
Dextrocardia |
|
Abnormal EKG, Congenital hip dislocation, Dextrocardia, Situs inversus totalis, Abnormality of th... |
ORPHA:1666 |
Mosaic Trisomy 14 |
|
Camptodactyly of finger, Abnormal rib morphology, Narrow chest, Cryptorchidism |
ORPHA:1703 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Hepatomegaly, Renal insufficiency, Splenomegaly, Stage 5 chronic kidney disease, Ureteral atresia... |
OMIM:208540 |
Spondylometaphyseal Dysplasia, Algerian Type |
|
Metaphyseal dysplasia, Bowed humerus, Anterior rib cupping, Short tubular bones of the hand, Tibi... |
OMIM:184253 |
Pontocerebellar Hypoplasia, Type 1B |
|
Tongue atrophy, Tongue fasciculations |
OMIM:614678 |
Mucopolysaccharidosis, Type Iiib |
|
Hepatomegaly, Thickened ribs, Cardiomegaly, Splenomegaly, Asymmetric septal hypertrophy |
OMIM:252920 |
Melkersson-Rosenthal Syndrome |
|
Macroglossia, Cheilitis, Furrowed tongue |
ORPHA:2483 |
Pulmonary Edema Of Mountaineers, Susceptibility To |
|
Elevated pulmonary artery pressure, Edema, Pulmonary edema |
OMIM:178400 |
2Q24 Microdeletion Syndrome |
|
Microphthalmia |
ORPHA:1617 |
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Tricuspid regurgitation, Pancreatic fibrosis, Ventricular septal defect, Lateral clavicle hook, P... |
OMIM:263520 |
Hypoglossia-Hypodactylia |
|
Microglossia, Aglossia, Narrow mouth |
OMIM:103300 |
Greenberg Dysplasia |
|
Micromelia, Beaded ribs, Tetraphocomelia, Hypoplasia of the calcaneus, Narrow chest, Neonatal dea... |
OMIM:215140 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2 |
|
Microphthalmia |
OMIM:616171 |
Growth Retardation, Developmental Delay, And Facial Dysmorphism |
|
Protruding tongue, Patent ductus arteriosus, Alveolar ridge overgrowth, Cleft palate, Thin vermil... |
OMIM:612938 |
Ossification Anomalies-Psychomotor Developmental Delay Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Decreased muscle mass, Abnormal thorax morphology, M... |
ORPHA:73230 |
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction |
|
Glossoptosis, Cleft palate |
OMIM:618356 |
Microphthalmia, Syndromic 11 |
|
Microphthalmia |
OMIM:614402 |
Thanatophoric Dysplasia Type 1 |
|
Bowing of the long bones, Short femur, Micromelia, Hypoplastic ilia, Abnormal sacroiliac joint mo... |
ORPHA:1860 |
Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Short metacarpal, Abnormal scapula morphology, Iliac crest serration, Myocarditis, Metaphyseal ch... |
ORPHA:93317 |
Acquired Hypertrichosis Lanuginosa |
|
Macroglossia, Glossitis |
ORPHA:2221 |
Short-Rib Thoracic Dysplasia 12 |
|
Bowing of the legs, Thoracic dysplasia, Narrow chest, Short palm, Neonatal death, Patent foramen ... |
OMIM:269860 |
Microphthalmia, Isolated 5 |
|
Microphthalmia |
OMIM:611040 |
10Q22.3Q23.3 Microduplication Syndrome |
|
Abnormal clavicle morphology, Tetralogy of Fallot, Abnormal rib morphology |
ORPHA:276422 |
Oculocerebrocutaneous Syndrome |
|
Microphthalmia, Orbital encephalocele, Anophthalmia |
OMIM:164180 |
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome |
|
Broad hallux phalanx, Toe syndactyly, Metatarsus valgus, Aplasia/Hypoplasia of toe, Cryptorchidis... |
ORPHA:3082 |
Anauxetic Dysplasia 3 |
|
Short metacarpal, Thoracolumbar kyphoscoliosis, Pectus excavatum, Hip subluxation, Wide anterior ... |
OMIM:618853 |
Achondrogenesis, Type Ia |
|
Barrel-shaped chest, Abnormal femoral metaphysis morphology, Hypoplastic scapulae, Micromelia, Be... |
OMIM:200600 |
Fibrochondrogenesis |
|
Hypoplastic scapulae, Camptodactyly of finger, Micromelia, Wide anterior fontanel, Abnormal rib m... |
ORPHA:2021 |
Pontine Tegmental Cap Dysplasia |
|
Rib fusion, Facial palsy |
OMIM:614688 |
Xk Aprosencephaly Syndrome |
|
Microphthalmia |
ORPHA:3469 |
Hydrocephaly-Low Insertion Umbilicus Syndrome |
|
Patent ductus arteriosus, Tetralogy of Fallot, Anomalous pulmonary venous return |
ORPHA:2184 |
Atelosteogenesis, Type I |
|
Short metatarsal, Tibial bowing, Narrow chest, Neonatal death, Short metacarpal, Radial bowing, C... |
OMIM:108720 |
Mucopolysaccharidosis, Type X |
|
Aortic regurgitation, Irregular acetabular roof, Thickened aortic valve cusp, Spatulate ribs, Bro... |
OMIM:619698 |
Recombinant Chromosome 8 Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Joint contracture of the hand, Pulmonic sten... |
OMIM:179613 |
Osteogenesis Imperfecta, Type Ii |
|
Crumpled long bones, Broad long bones, Beaded ribs, Congestive heart failure, Tibial bowing, Bell... |
OMIM:166210 |
Dyggve-Melchior-Clausen Disease |
|
Glenoid fossa hypoplasia, Coxa vara, Pectus carinatum, Broad ribs, Iliac crest serration, Rhizome... |
ORPHA:239 |
Diamond-Blackfan Anemia 12 |
|
Macrocytic anemia, Ventricular septal defect, Reticulocytopenia, Normochromic anemia, Triphalange... |
OMIM:615550 |
3M Syndrome |
|
Hypoplasia of the ulna, Scapular winging, Congenital hip dislocation, Rocker bottom foot, Microme... |
ORPHA:2616 |
Intellectual Developmental Disorder, Autosomal Dominant 58 |
|
Dental crowding, Protruding tongue, Submucous cleft hard palate, Wide mouth, High palate, Thick v... |
OMIM:618106 |
Agnathia-Otocephaly Complex |
|
Microglossia, Aglossia, Cleft palate, Narrow mouth |
OMIM:202650 |
Seckel Syndrome 2 |
|
Microdontia, Microglossia |
OMIM:606744 |
Pallister-Hall Syndrome |
|
Atrial septal defect, Atrioventricular canal defect, Mesoaxial polydactyly, Radial bowing, Crypto... |
ORPHA:672 |
Rhizomelic Dysplasia, Patterson-Lowry Type |
|
Short humerus, Short metacarpal, Rhizomelia, Short metatarsal, Coxa vara, Deformed humeral heads,... |
OMIM:601438 |
Cofs Syndrome |
|
Microphthalmia |
ORPHA:1466 |
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome |
|
Hypoplastic scapulae, Short femur, Rhizomelia, Dumbbell-shaped long bone, Micromelia, Metaphyseal... |
ORPHA:440354 |
Pallister-Hall-Like Syndrome |
|
Microglossia, Median cleft lip, Cleft palate |
OMIM:241800 |
Developmental And Speech Delay Due To Sox5 Deficiency |
|
Exaggerated median tongue furrow, Dental crowding, Narrow palate |
ORPHA:313892 |
Thin Ribs-Tubular Bones-Dysmorphism Syndrome |
|
Slender long bone, Abnormal pelvic girdle bone morphology, Abnormal rib morphology |
ORPHA:1506 |
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige |
|
Multiple muscular ventricular septal defects, Pulmonic stenosis |
OMIM:615508 |
Aicardi Syndrome |
|
Proximal placement of thumb, Missing ribs, Rib fusion, Supernumerary ribs, Bifid ribs, Hepatoblas... |
OMIM:304050 |
Arthrogryposis, Distal, Type 5D |
|
Tongue atrophy, Cleft palate, Furrowed tongue, Narrow mouth, Open mouth |
OMIM:615065 |
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome |
|
Ventricular septal defect, Pulmonary artery stenosis, Joint contracture of the hand, Camptodactyl... |
OMIM:280000 |
Hereditary Mucoepithelial Dysplasia |
|
Tracheoesophageal fistula, Gingival overgrowth, Furrowed tongue |
ORPHA:1839 |
Cronkhite-Canada Syndrome |
|
Intestinal polyposis, Malabsorption, Hypogeusia, Furrowed tongue, Hamartomatous polyposis, Colon ... |
ORPHA:2930 |
Holzgreve Syndrome |
|
Bifid tongue, Aplasia/Hypoplasia of the tongue, Cleft palate |
ORPHA:2167 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
|
Bulging epiphyses, Bowing of the legs, Enlargement of the costochondral junction, Delayed epiphys... |
OMIM:600081 |
Multiple Synostoses Syndrome 1 |
|
Symphalangism affecting the phalanges of the hand, Cutaneous finger syndactyly, Lower limb underg... |
OMIM:186500 |
Otopalatodigital Syndrome, Type I |
|
Abnormality of the fifth metatarsal bone, Femoral bowing, Broad distal phalanx of the thumb, Shor... |
OMIM:311300 |
Hurler Syndrome |
|
Hepatomegaly, Abnormal clavicle morphology, Abnormal heart valve morphology, Camptodactyly of fin... |
ORPHA:93473 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures |
|
Bicuspid aortic valve, Metaphyseal widening, Delayed proximal femoral epiphyseal ossification, Fl... |
OMIM:271640 |
Amyotrophic Lateral Sclerosis 27, Juvenile |
|
Tongue atrophy, Tongue fasciculations |
OMIM:620285 |
Tibial Aplasia-Ectrodactyly Syndrome |
|
Finger syndactyly, Short femur, Preaxial hand polydactyly, Postaxial hand polydactyly, Split hand... |
ORPHA:3329 |
Charcot-Marie-Tooth Disease, Type 4C |
|
Tongue atrophy, Tongue fasciculations |
OMIM:601596 |
Hypomandibular Faciocranial Dysostosis |
|
Aplasia/Hypoplasia of the tongue, Patent ductus arteriosus, Cleft palate, Narrow mouth, Bifid uvula |
ORPHA:1790 |
Mullegama-Klein-Martinez Syndrome |
|
Facial palsy, Congenital diaphragmatic hernia, Polydactyly, Hypoplastic left heart, Apical muscul... |
OMIM:301022 |
Tyrosinemia, Type I |
|
Hepatomegaly, Renal insufficiency, Splenomegaly, Nephrocalcinosis, Renal Fanconi syndrome, Glomer... |
OMIM:276700 |
Carey-Fineman-Ziter Syndrome |
|
Aplasia/Hypoplasia of the tongue, Pierre-Robin sequence, Cleft palate, Glossoptosis, Thin vermili... |
ORPHA:1358 |
Acrocephalopolydactylous Dysplasia |
|
Hepatomegaly, Cystic renal dysplasia, Enlarged kidney |
OMIM:200995 |
Renpenning Syndrome |
|
Skeletal muscle atrophy, Pectus excavatum, Abnormal thumb morphology, Abnormal rib morphology, Cl... |
ORPHA:3242 |
Chromosome 17Q12 Duplication Syndrome |
|
Esophageal atresia, Cleft soft palate, Smooth philtrum |
OMIM:614526 |
Beckwith-Wiedemann Syndrome |
|
Hepatomegaly, Cardiomegaly, Pancreatic hyperplasia, Nephrolithiasis, Renal cortical cysts, Nephro... |
OMIM:130650 |
Pericardial And Diaphragmatic Defect |
|
Bicuspid aortic valve, Congenital diaphragmatic hernia, Patent ductus arteriosus, Abnormal heart ... |
ORPHA:2847 |
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor |
|
Bulging epiphyses, Bowing of the long bones, Delayed epiphyseal ossification, Tibial bowing, Femo... |
OMIM:600785 |
Orofaciodigital Syndrome Type 3 |
|
Irregular dentition, Hamartoma of tongue, Abnormality of the dentition, Lobulated tongue, Bifid u... |
ORPHA:2752 |
Fallot Complex-Intellectual Disability-Growth Delay Syndrome |
|
Overriding aorta, Patent ductus arteriosus, Pulmonic stenosis, Atrial septal defect, Double outle... |
ORPHA:3304 |
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome |
|
Noncompaction cardiomyopathy, Short metacarpal, Short humerus, Tricuspid regurgitation, Thrombocy... |
ORPHA:508542 |
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities |
|
Hypoplasia of the ulna, Short humerus, Hypoplastic scapulae, Rhizomelia, Cryptorchidism, Flared m... |
OMIM:602471 |
Mucopolysaccharidosis Type 4 |
|
Bowing of the long bones, Abnormal heart valve morphology, Coxa valga, Short thorax, Abnormal rib... |
ORPHA:582 |
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Enlarged kidney, Micropenis, Renal dysplasia, Polycystic kidney dysplasia |
OMIM:613091 |
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Hypoplastic pubic ramus, Proximal placement of thumb, Short metatarsal, Patellar hypoplasia, Hand... |
OMIM:609945 |
Mucopolysaccharidosis, Type Vi |
|
Metaphyseal widening, Flexion contracture, Pectus carinatum, Hypoplastic iliac wing, Broad ribs, ... |
OMIM:253200 |
Mucopolysaccharidosis, Type Iiia |
|
Splenomegaly, Hepatomegaly, Thickened ribs, Asymmetric septal hypertrophy |
OMIM:252900 |
Pentalogy Of Cantrell |
|
Absent gallbladder, Ventricular septal defect, Abnormal pericardium morphology, Congenital diaphr... |
ORPHA:1335 |
Double Outlet Right Ventricle |
|
Ventricular septal defect, Double outlet right ventricle, Coarctation of aorta, Hypoplastic left ... |
ORPHA:3426 |
Cat-Eye Syndrome |
|
Microphthalmia |
ORPHA:195 |
Mohr Syndrome |
|
Median cleft lip, Accessory oral frenulum, Cleft palate, Tongue nodules, Lobulated tongue, High p... |
OMIM:252100 |
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome |
|
Skeletal muscle atrophy, Hypogonadotropic hypogonadism, Facial palsy, Abnormal muscle fiber morph... |
ORPHA:3068 |
Achondrogenesis Type 1B |
|
Micromelia, Short thorax, Abnormal rib morphology, Short foot, Talipes equinovarus, Narrow chest |
ORPHA:93298 |
Juberg-Hayward Syndrome |
|
Toe syndactyly, Short thumb, Hypoplasia of the radius, Abnormal finger morphology, Abnormal rib m... |
ORPHA:2319 |
Kaposiform Lymphangiomatosis |
|
Splenomegaly, Multiple renal cysts, Enlarged kidney, Hepatosplenomegaly |
ORPHA:464329 |
Cartilage-Hair Hypoplasia |
|
Impaired lymphocyte transformation with phytohemagglutinin, Metaphyseal dysplasia, Macrocytic ane... |
OMIM:250250 |
Lymphoid Interstitial Pneumonia |
|
Hepatomegaly, Enlarged kidney |
ORPHA:79128 |
Mucopolysaccharidosis, Type Ivb |
|
Hepatomegaly, Pointed proximal second through fifth metacarpals, Coxa valga, Epiphyseal deformiti... |
OMIM:253010 |
Imperforate Oropharynx-Costovertebral Anomalies Syndrome |
|
Abnormal lip morphology, Abnormality of the philtrum, Aplasia/Hypoplasia of the tongue |
ORPHA:2759 |
Distal Limb Deficiencies-Micrognathia Syndrome |
|
Cleft palate, High palate, Narrow mouth, Microdontia, Microglossia |
ORPHA:1307 |
Humerofemoral Hypoplasia With Radiotibial Ray Deficiency |
|
Hypoplastic scapulae, Bowed humerus, Congenital diaphragmatic hernia, Absent thumb, Elbow flexion... |
OMIM:618022 |
Lissencephaly 8 |
|
Microphthalmia, Occipital encephalocele |
OMIM:617255 |
Pierpont Syndrome |
|
Microphthalmia |
ORPHA:487825 |
Trisomy 13 |
|
Ventricular septal defect, Cryptorchidism, Postaxial hand polydactyly, Abnormal rib morphology, A... |
ORPHA:3378 |
Campomelia, Cumming Type |
|
Hepatomegaly, Bowing of the long bones, Micromelia, Pancreatic cysts, Abnormality of the pancreas... |
ORPHA:1318 |
Cantú Syndrome |
|
Finger syndactyly, Broad hallux phalanx, Abnormal heart valve morphology, Short hallux, Cardiomeg... |
ORPHA:1517 |
Igg4-Related Kidney Disease |
|
Renal insufficiency, Proteinuria, Renal interstitial immunoglobulin deposits, Urinary bladder inf... |
ORPHA:449395 |
Mulibrey Nanism |
|
Dental crowding, Dental malocclusion, Hypodontia, Microglossia, Enamel hypoplasia |
OMIM:253250 |
Frontometaphyseal Dysplasia 1 |
|
Skeletal muscle atrophy, Knee flexion contracture, Increased density of long bone diaphyses, Wris... |
OMIM:305620 |
H Syndrome |
|
Micropenis, Abnormality of the kidney, Enlarged kidney, Hepatosplenomegaly |
ORPHA:168569 |
Anterior Segment Dysgenesis 5 |
|
Hypoplasia of the fovea, Hypoplasia of the iris, Rieger anomaly, Microphthalmia |
OMIM:604229 |
Hartsfield Syndrome |
|
Encephalocele, Microphthalmia |
ORPHA:2117 |
Endocrine-Cerebroosteodysplasia |
|
Hyperechogenic kidneys, Hypospadias, Microphallus, Enlarged kidney |
OMIM:612651 |
Chime Syndrome |
|
Pulmonary valve atresia, Tetralogy of Fallot, Ventricular septal defect, Transposition of the gre... |
ORPHA:3474 |
Microcephaly-Cervical Spine Fusion Anomalies Syndrome |
|
Abnormal clavicle morphology, Pectus excavatum, Abnormal rib morphology, Abnormal hip bone morpho... |
ORPHA:2522 |
9Q21.13 Microdeletion Syndrome |
|
Downturned corners of mouth, Abnormal tongue morphology |
ORPHA:531151 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Proteinuria, Heparan sulfate excretion in urine, Hepatosplenomegaly, Nephrotic syndrome, Heavy pr... |
ORPHA:505248 |
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability |
|
Microphthalmia |
ORPHA:1473 |
Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Absent gallbladder, Postaxial polydactyly, Lateral clavicle hook, Complete atrioventricular canal... |
OMIM:617925 |
Hyperparathyroidism, Transient Neonatal |
|
Enlarged kidney, Unilateral renal agenesis |
OMIM:618188 |
Microcephaly 30, Primary, Autosomal Recessive |
|
Thin upper lip vermilion, Pierre-Robin sequence, Cleft soft palate |
OMIM:620183 |
Trisomy 1Q |
|
Toe syndactyly, Arachnodactyly, Ventricular septal defect, Camptodactyly of finger, Congenital di... |
ORPHA:261344 |
Hypoglossia-Hypodactyly Syndrome |
|
Jejunal atresia, Aplasia/Hypoplasia of the tongue, Cleft palate, High palate, Hypodontia, Narrow ... |
ORPHA:989 |
Robinow Syndrome, Autosomal Dominant 2 |
|
Thin upper lip vermilion, Dental crowding, Cleft soft palate, Abnormality of the dentition, Denta... |
OMIM:616331 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1 |
|
Microphthalmia |
OMIM:251270 |
Psoriasis 14, Pustular |
|
Geographic tongue, Furrowed tongue |
OMIM:614204 |
Pierpont Syndrome |
|
Microphthalmia |
OMIM:602342 |
Lethal Congenital Contracture Syndrome Type 1 |
|
Slender long bone, Abnormal rib morphology, Abnormal hip bone morphology, Skeletal muscle atrophy |
ORPHA:1486 |
Meckel Syndrome, Type 5 |
|
Microphthalmia, Occipital encephalocele, Anencephaly |
OMIM:611561 |
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
|
Rib fusion, Short ribs, Missing ribs, Thin ribs |
OMIM:271520 |
Microphthalmia, Syndromic 8 |
|
Microphthalmia |
OMIM:601349 |
Bazex-Dupre-Christol Syndrome |
|
Furrowed tongue |
OMIM:301845 |
Arrhinia-Choanal Atresia-Microphthalmia Syndrome |
|
Microphthalmia |
ORPHA:1135 |
Down Syndrome |
|
Aganglionic megacolon, Protruding tongue, Abnormality of the dentition, Thick lower lip vermilion... |
ORPHA:870 |
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis |
|
Arachnodactyly, Rocker bottom foot, Wide anterior fontanel, Ulnar bowing, Humeroradial synostosis... |
OMIM:207410 |
Lelis Syndrome |
|
Carious teeth, Hypodontia, Furrowed tongue |
ORPHA:140936 |
Warburg Micro Syndrome 1 |
|
Microphthalmia |
OMIM:600118 |
Axial Mesodermal Dysplasia Spectrum |
|
Congenital diaphragmatic hernia, Missing ribs, Abnormality of the spleen, Abnormal rib morphology... |
ORPHA:1834 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Absent gallbladder, Arachnodactyly, Transient ischemic attack, Absent thumb, Rib fusion, Abnormal... |
ORPHA:500150 |
Tarp Syndrome |
|
Rocker bottom foot, Postaxial polydactyly, Pectus excavatum, Hypoplasia of the radius, Subdural h... |
OMIM:311900 |
Spinocerebellar Ataxia 36 |
|
Tongue atrophy, Tongue fasciculations |
OMIM:614153 |
Ataxia, Intention Tremor, And Hypotonia Syndrome, Childhood-Onset |
|
Ankyloglossia |
OMIM:619352 |
Hartnup Disease |
|
Glossitis, Gingivitis, Malabsorption |
ORPHA:2116 |
Gracile Bone Dysplasia |
|
Asplenia, Flared metaphysis, Thin ribs, Slender long bone, Hypoplastic spleen, Brachydactyly |
OMIM:602361 |
Craniosynostosis, Herrmann-Opitz Type |
|
Finger syndactyly, Micromelia, Split hand, Abnormal rib morphology, Brachydactyly |
ORPHA:2145 |
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Flexion contracture, Tibial bowing, Narrow chest, Hypoplastic iliac wing, Atrial septal defect, H... |
ORPHA:96334 |
Lymphatic Malformation 7 |
|
Nonimmune hydrops fetalis, Edema, Lymphedema, Facial edema, Pericardial effusion, Increased nucha... |
OMIM:617300 |
Neu-Laxova Syndrome 1 |
|
Ventricular septal defect, Patent ductus arteriosus, Stillbirth, Transposition of the great arter... |
OMIM:256520 |
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Ivory epiphyses, Short metacarpal, Bowing of the long bones, Rhizomelia, Metaphyseal spurs, Bowin... |
ORPHA:85167 |
Atrial Septal Defect 1 |
|
Tetralogy of Fallot with pulmonary atresia, Ventricular septal defect, Bicuspid aortic valve, Sec... |
OMIM:108800 |
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies |
|
Pectus excavatum, Hypoplastic distal segments of scapulae, Abnormal rib morphology |
OMIM:602196 |
Ritscher-Schinzel Syndrome 1 |
|
Ventricular septal defect, Double outlet right ventricle, Hypoplastic left heart, Pulmonic stenos... |
OMIM:220210 |
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb |
|
Thin upper lip vermilion, Bilateral cleft lip and palate, High palate, Enamel hypoplasia, Ankylog... |
OMIM:618874 |
Van Den Ende-Gupta Syndrome |
|
Glenoid fossa hypoplasia, Lateral clavicle hook, 2-3 toe cutaneous syndactyly, Femoral bowing, Kn... |
OMIM:600920 |
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome |
|
Microphthalmia |
ORPHA:48431 |
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome |
|
Microphthalmia |
OMIM:601794 |
Hemihyperplasia-Multiple Lipomatosis Syndrome |
|
Nephroblastoma, Enlarged kidney |
ORPHA:276280 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11 |
|
Microphthalmia, Optic nerve hypoplasia |
OMIM:615181 |
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies |
|
Ventricular septal defect, Parachute mitral valve, Patent ductus arteriosus, Atrial septal defect... |
OMIM:618316 |
Eiken Syndrome |
|
Broad femoral neck, Delayed epiphyseal ossification, Long thumb, Flat acetabular roof, Fibular hy... |
OMIM:600002 |
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type |
|
Carious teeth, Glossoptosis |
ORPHA:93346 |
Cenani-Lenz Syndrome |
|
Hypoplasia of the ulna, Finger syndactyly, Toe syndactyly, Micromelia, Short thumb, Hypoplasia of... |
ORPHA:3258 |
Acro-Renal-Mandibular Syndrome |
|
Abnormal clavicle morphology, Hypoplasia of the ulna, Hypoplastic scapulae, Finger syndactyly, Co... |
ORPHA:958 |
Robinow Syndrome, Autosomal Recessive 2 |
|
Cleft soft palate, Abnormality of the dentition, Gingival overgrowth, Long philtrum, Triangular m... |
OMIM:618529 |
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Natal tooth, Hamartoma of tongue, Cleft lip, Patent ductus arteriosus, Cleft palate, Incomplete c... |
OMIM:616300 |
Deafness, X-Linked 7 |
|
Unilateral microphthalmos |
OMIM:301018 |
Duane-Radial Ray Syndrome |
|
Syndactyly, Hypoplasia of the ulna, Radial deviation of the hand, Ventricular septal defect, Sand... |
OMIM:607323 |
Dysosteosclerosis |
|
Sclerotic scapulae, Abnormal metaphyseal trabeculation, Flared metaphysis, Short diaphyses, Short... |
OMIM:224300 |
Congenital Toxoplasmosis |
|
Microphthalmia |
ORPHA:858 |
Simpson-Golabi-Behmel Syndrome |
|
Bundle branch block, Congenital hip dislocation, Congenital diaphragmatic hernia, Atrial septal d... |
ORPHA:373 |
Alg9-Cdg |
|
Hypoplasia of the bladder, Hepatomegaly, Ureteral hypoplasia, Abnormal renal artery morphology, H... |
ORPHA:79328 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1 |
|
Microphthalmia |
OMIM:613155 |
Multiple Epiphyseal Dysplasia, Lowry Type |
|
Cleft hard palate |
ORPHA:166016 |
Restrictive Dermopathy |
|
Multiple joint contractures, Dextrocardia, Camptodactyly of finger, Patent ductus arteriosus, Asc... |
ORPHA:1662 |
Mandibuloacral Dysplasia |
|
High palate, Abnormal tongue morphology, Dental crowding, Hypoplasia of teeth |
ORPHA:2457 |
Oculocerebrocutaneous Syndrome |
|
Finger syndactyly, Congenital hip dislocation, Congenital diaphragmatic hernia, Aplasia/Hypoplasi... |
ORPHA:1647 |
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome |
|
Microphthalmia |
ORPHA:363741 |
Developmental Delay With Variable Neurologic And Brain Abnormalities |
|
Microphthalmia |
OMIM:619694 |
Temtamy Syndrome |
|
Microphthalmia |
ORPHA:1777 |
Acheiropodia |
|
Short humerus, Aplasia of the ulna, Absent radius, Absent hand, Upper limb phocomelia, Abnormal e... |
ORPHA:931 |
Pmp22-Rai1 Contiguous Gene Duplication Syndrome |
|
Overriding aorta, Bicuspid aortic valve, Ventricular septal defect, Abnormal heart morphology, Pe... |
ORPHA:477817 |
Braddock-Carey Syndrome 2 |
|
Microphthalmia |
OMIM:619981 |
Oculogastrointestinal Neurodevelopmental Syndrome |
|
Bilateral microphthalmos, Unilateral microphthalmos |
OMIM:619318 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Hepatomegaly, Proteinuria, Stage 5 chronic kidney disease, Nephrolithiasis, Nephrocalcinosis, Enl... |
ORPHA:79259 |
Acrocallosal Syndrome |
|
Downturned corners of mouth, High palate, Short philtrum, Prominent palatine ridges, Bifid uvula,... |
OMIM:200990 |
Bruck Syndrome 2 |
|
Flexion contracture, Elbow flexion contracture, Femoral bowing, Pectus carinatum, Knee flexion co... |
OMIM:609220 |
Autosomal Dominant Keratitis |
|
Hypoplasia of the fovea, Bilateral microphthalmos, Hypoplastic iris stroma, Macular hypoplasia, A... |
ORPHA:2334 |
Cleidocranial Dysplasia |
|
Hypoplastic scapulae, Down-sloping shoulders, Tapered finger, Abnormal thumb morphology, Abnormal... |
ORPHA:1452 |
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Microphthalmia |
OMIM:602501 |
Otopalatodigital Syndrome Type 2 |
|
Bowing of the long bones, Abnormal heart valve morphology, Tarsal synostosis, Short hallux, Campt... |
ORPHA:90652 |
Joubert Syndrome 22 |
|
Microphthalmia |
OMIM:615665 |
Pachyonychia Congenita 3 |
|
Chapped lip, Oral leukoplakia, Gingivitis, Furrowed tongue |
OMIM:615726 |
Lymphangiectasia, Pulmonary, Congenital |
|
Palpebral edema, Nonimmune hydrops fetalis, Polyhydramnios, Edema, Facial edema, Mild postnatal g... |
OMIM:265300 |
Spinocerebellar Ataxia Type 36 |
|
Tongue atrophy, Tongue fasciculations |
ORPHA:276198 |
Vacterl/Vater Association |
|
Finger syndactyly, Congenital diaphragmatic hernia, Abnormality of the pancreas, Preaxial hand po... |
ORPHA:887 |
Carpenter Syndrome 2 |
|
Dextrocardia, Situs inversus totalis, Patent ductus arteriosus, Knee flexion contracture, Transpo... |
OMIM:614976 |
Autosomal Recessive Polycystic Kidney Disease |
|
Renal insufficiency, Recurrent urinary tract infections, Splenomegaly, Oliguria, Stage 5 chronic ... |
ORPHA:731 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Tented upper lip vermilion, Cleft palate, Furrowed tongue, High palate, Short philtrum, Everted l... |
OMIM:616449 |
Orofaciodigital Syndrome Type 2 |
|
Natal tooth, Median cleft lip, Hamartoma of tongue, Unilateral alveolar cleft of maxilla, Velopha... |
ORPHA:2751 |
Melnick-Needles Syndrome |
|
Short humerus, Hypoplastic scapulae, Coxa valga, Pectus excavatum, Flared metaphysis, Hip disloca... |
OMIM:309350 |
Autosomal Recessive Malignant Osteopetrosis |
|
Hepatomegaly, Bowing of the long bones, Abnormal pulmonary valve morphology, Splenomegaly, Abnorm... |
ORPHA:667 |
Ritscher-Schinzel Syndrome 2 |
|
Intestinal malrotation, Protruding tongue, Patent ductus arteriosus, High palate, Short philtrum |
OMIM:300963 |
Mucolipidosis Ii Alpha/Beta |
|
Hepatomegaly, Cardiomegaly, Splenomegaly, Mucopolysacchariduria, Enlarged kidney |
OMIM:252500 |
Pitt-Hopkins-Like Syndrome 2 |
|
Wide mouth, Protruding tongue |
OMIM:614325 |
Developmental And Epileptic Encephalopathy 1 |
|
Microphthalmia |
OMIM:308350 |
Structural Heart Defects And Renal Anomalies Syndrome |
|
Ventricular septal defect, Partial anomalous pulmonary venous return, Right aortic arch, Persiste... |
OMIM:617478 |
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts |
|
Microphthalmia |
OMIM:613730 |
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome |
|
Microphthalmia |
ORPHA:231736 |
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Malabsorption, Xerostomia, Hamartomatous polyposis, Protein-losing enteropathy, Glossitis |
OMIM:175500 |
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15 |
|
Wide mouth, Widely spaced teeth, Protruding tongue |
ORPHA:98795 |
Linear Skin Defects With Multiple Congenital Anomalies 2 |
|
Microphthalmia |
OMIM:300887 |
Methylmalonic Aciduria And Homocystinuria, Cblf Type |
|
Thin upper lip vermilion, Patent ductus arteriosus, Tracheoesophageal fistula, High palate, Stoma... |
OMIM:277380 |
Cowden Syndrome 5 |
|
Colonic diverticula, Furrowed tongue, Hamartomatous polyposis, High palate, Narrow mouth |
OMIM:615108 |
Microphthalmia-Microtia-Fetal Akinesia Syndrome |
|
Microphthalmia |
ORPHA:2547 |
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome |
|
Tented upper lip vermilion, Exaggerated cupid's bow, Abnormality of canine, Pierre-Robin sequence... |
ORPHA:364577 |
Frontonasal Dysplasia 1 |
|
Cranium bifidum occultum, Microphthalmia, Anterior basal encephalocele |
OMIM:136760 |
Spondyloepimetaphyseal Dysplasia, X-Linked |
|
Pectus carinatum, Long fibula, Short palm, Short phalanx of finger, Broad metacarpals, Genu varum... |
OMIM:300106 |
Anterior Segment Dysgenesis 2 |
|
Aniridia, Microphthalmia, Congenital aphakia, Anterior segment of eye aplasia |
OMIM:610256 |
Cornea Plana 2, Autosomal Recessive |
|
Microphthalmia |
OMIM:217300 |
Frontonasal Dysplasia 3 |
|
Microphthalmia |
OMIM:613456 |
Developmental And Epileptic Encephalopathy 80 |
|
Tented upper lip vermilion, Protruding tongue, Wide mouth, High palate, Long philtrum, Smooth phi... |
OMIM:618580 |
Antley-Bixler Syndrome |
|
Arachnodactyly, Camptodactyly of finger, Abnormal rib morphology, Femoral bowing, Narrow pelvis b... |
ORPHA:83 |
Cranioectodermal Dysplasia 2 |
|
Cholangitis, Narrow chest, Atrial septal defect, Patent foramen ovale, Hepatomegaly, Syndactyly, ... |
OMIM:613610 |
Otopalatodigital Syndrome, Type Ii |
|
Congenital hip dislocation, Elbow contracture, Short metatarsal, Femoral bowing, Tibial bowing, N... |
OMIM:304120 |
Craniosynostosis 2 |
|
Supernumerary tooth, Cleft soft palate |
OMIM:604757 |
Cranioectodermal Dysplasia 1 |
|
Bicuspid aortic valve, Hepatic fibrosis, Narrow chest, Hepatomegaly, Rhizomelia, Malformation of ... |
OMIM:218330 |
Chand Syndrome |
|
Cleft palate, Agenesis of permanent teeth, Abnormal oral frenulum morphology, Agenesis of maxilla... |
ORPHA:1401 |
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome |
|
Renal malrotation, Multicystic kidney dysplasia, Nephroblastoma, Bifid ureter, Enlarged kidney |
ORPHA:500095 |
Beckwith-Wiedemann Syndrome |
|
Ureteral duplication, Hepatomegaly, Cardiomegaly, Splenomegaly, Nephrolithiasis, Hypercalciuria, ... |
ORPHA:116 |
Robin Sequence With Distinctive Facial Appearance And Brachydactyly |
|
Exaggerated median tongue furrow, Tented upper lip vermilion, Exaggerated cupid's bow, Long upper... |
OMIM:608670 |
Vater/Vacterl Association |
|
Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect, Transposition of the gr... |
OMIM:192350 |
Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Microphthalmia |
OMIM:618805 |
Baraitser-Winter Syndrome 2 |
|
Microphthalmia |
OMIM:614583 |
Meckel Syndrome, Type 2 |
|
Encephalocele, Microphthalmia, Meningocele, Anencephaly |
OMIM:603194 |
Moebius Syndrome |
|
Aplasia/Hypoplasia of the tongue, Cleft palate, Tooth agenesis, High palate, Everted lower lip ve... |
ORPHA:570 |
Cowden Syndrome 6 |
|
Colonic diverticula, Furrowed tongue, Hamartomatous polyposis, High palate, Narrow mouth |
OMIM:615109 |
Methylmalonic Acidemia With Homocystinuria Type Cblf |
|
Stomatitis, Glossitis, Cleft palate |
ORPHA:79284 |
Orofaciodigital Syndrome I |
|
Median cleft lip, Hamartoma of tongue, Cleft upper lip, Carious teeth, Supernumerary tooth, Alveo... |
OMIM:311200 |
Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome |
|
Aplasia/Hypoplasia of the thumb, Short humerus, Hypoplasia of the ulna, Radial club hand, Ulnar b... |
ORPHA:2878 |
Acheiropody |
|
Carpal bone aplasia, Short humerus, Aplasia of the phalanges of the hand, Aplasia of the ulna, Ab... |
OMIM:200500 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 |
|
Macroglossia, Malabsorption, Protruding tongue |
OMIM:242860 |
Codas Syndrome |
|
Short humerus, Short metacarpal, Congenital hip dislocation, Ventricular septal defect, Metaphyse... |
OMIM:600373 |
Acrodermatitis Enteropathica |
|
Malabsorption, Cheilitis, Abnormality of the tongue, Furrowed tongue, Glossitis |
ORPHA:37 |
Multiple Pterygium-Malignant Hyperthermia Syndrome |
|
Finger syndactyly, Skeletal muscle atrophy, Congenital muscular torticollis, Arachnodactyly, Camp... |
ORPHA:2215 |
Anterior Segment Dysgenesis 7 |
|
Buphthalmos, Microphthalmia |
OMIM:269400 |
Myhre Syndrome |
|
Brachydactyly, Cryptorchidism, Abnormal rib morphology, Skeletal muscle hypertrophy, Hypertension... |
ORPHA:2588 |
Short-Rib Thoracic Dysplasia 15 With Polydactyly |
|
Hepatomegaly, Postaxial polydactyly, Splenomegaly, Postaxial hand polydactyly, Cone-shaped epiphy... |
OMIM:617088 |
17Q12 Microduplication Syndrome |
|
Microphthalmia |
ORPHA:261272 |
Robinow Syndrome, Autosomal Dominant 3 |
|
Cleft lip, Patent ductus arteriosus, Dental malocclusion, Gingival overgrowth, Cleft palate, Agen... |
OMIM:616894 |
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome |
|
Sandal gap, Sprengel anomaly, Abnormal rib morphology, Brachydactyly |
ORPHA:2180 |
Contractures-Developmental Delay-Pierre Robin Syndrome |
|
High, narrow palate, Glossoptosis, Cleft palate |
ORPHA:436003 |
Hereditary Folate Malabsorption |
|
Glossitis, Cheilitis |
ORPHA:90045 |
Congenital Rubella Syndrome |
|
Aplasia/Hypoplasia of the iris, Microphthalmia |
ORPHA:290 |
Icf Syndrome |
|
Macroglossia, Malabsorption, Protruding tongue |
ORPHA:2268 |
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe |
|
Bifid sternum, Supraumbilical raphe |
OMIM:140850 |
Microphthalmia-Brain Atrophy Syndrome |
|
Bilateral microphthalmos |
ORPHA:77299 |
Campomelic Dysplasia |
|
Thoracic scoliosis, Anterior tibial bowing, Delayed epiphyseal ossification, Patellar hypoplasia,... |
OMIM:114290 |
Mandibuloacral Dysplasia Progeroid Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Mitral valve calcification, Tricuspid regurgitation,... |
OMIM:619127 |
Kleefstra Syndrome 1 |
|
Natal tooth, Protruding tongue, Persistence of primary teeth, Macroglossia, Everted lower lip ver... |
OMIM:610253 |
Otospondylomegaepiphyseal Dysplasia |
|
Glossoptosis, Bifid uvula, Cleft palate |
ORPHA:1427 |
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Flexion contracture, Femoral bowing, Narrow chest, Short metacarpal, Abnormal metacarpal epiphysi... |
ORPHA:95699 |
Orofaciodigital Syndrome Type 6 |
|
Hamartoma of tongue, Midline notch of upper alveolar ridge, Cleft palate, Lobulated tongue, Abnor... |
ORPHA:2754 |
Cerebrocostomandibular Syndrome |
|
Anal stenosis, Cleft soft palate, Carious teeth, Cleft lip, Patent ductus arteriosus, Pierre-Robi... |
OMIM:117650 |
Treacher-Collins Syndrome |
|
Branchial fistula, Abnormal dental morphology, Abnormal dental enamel morphology, Cleft upper lip... |
ORPHA:861 |
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures |
|
Microphthalmia, Optic nerve hypoplasia |
OMIM:614833 |
Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Ventricular septal defect, Facial hypotonia, Congenital diaphragmatic hernia, Diastasis recti, Pa... |
OMIM:312870 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Enlarged kidney, Cardiomegaly |
OMIM:261740 |
Orofaciodigital Syndrome Vi |
|
Hamartoma of tongue, Accessory oral frenulum, Cleft upper lip, Cleft palate, Incomplete cleft of ... |
OMIM:277170 |
Angelman Syndrome Due To A Point Mutation |
|
Wide mouth, Widely spaced teeth, Protruding tongue |
ORPHA:411511 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Microphthalmia |
OMIM:613153 |
Isotretinoin-Like Syndrome |
|
Bicuspid aortic valve, Patent ductus arteriosus, Abnormal cardiac ventricle morphology, Abnormal ... |
ORPHA:2306 |
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy |
|
Buphthalmos, Microphthalmia |
OMIM:212550 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type |
|
Thin upper lip vermilion, Diastema, Furrowed tongue, High palate, Smooth philtrum |
OMIM:300534 |
Idiopathic Uveal Effusion Syndrome |
|
Microphthalmia |
ORPHA:209956 |
Catel-Manzke Syndrome |
|
Short humerus, Short metacarpal, Overriding aorta, Ventricular septal defect, Dextrocardia, Short... |
OMIM:616145 |
Osteoporosis-Pseudoglioma Syndrome |
|
Microphthalmia |
ORPHA:2788 |
Congenitally Corrected Transposition Of The Great Arteries |
|
Wolff-Parkinson-White syndrome, Atrial situs ambiguous, First degree atrioventricular block, Hear... |
ORPHA:216694 |
Schinzel-Giedion Midface Retraction Syndrome |
|
Atrial septal defect, Long clavicles, Increased density of long bones, Wide distal femoral metaph... |
OMIM:269150 |
Oculotrichoanal Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:2717 |
Neurodevelopmental, Jaw, Eye, And Digital Syndrome |
|
Microphthalmia, Lens coloboma, Umbilical hernia |
OMIM:618914 |
Aspergillosis |
|
Eosinophilia, Abnormal rib morphology, Hepatitis, Abnormal long bone morphology, Intracranial hem... |
ORPHA:1163 |
Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
|
Pectus carinatum, Femoral bowing, Foot oligodactyly, Aplasia/Hypoplasia of the tarsal bones, Phoc... |
OMIM:276820 |
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation |
|
Wide mouth, Gingival overgrowth, Protruding tongue |
OMIM:618797 |
Leprechaunism |
|
Hepatomegaly, Enlarged ovaries, Long penis, Hypercalciuria, Nephrocalcinosis, Enlarged kidney |
ORPHA:508 |
Helsmoortel-Van Der Aa Syndrome |
|
Recurrent urinary tract infections, Enlarged kidney, Enuresis nocturna |
OMIM:615873 |
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
|
Everted lower lip vermilion, Smooth philtrum, Protruding tongue |
ORPHA:324410 |
Gm1-Gangliosidosis, Type Ii |
|
Patent ductus arteriosus, Protruding tongue, Gingival overgrowth, Narrow mouth |
OMIM:230600 |
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome |
|
Delayed eruption of teeth, Abnormal dental enamel morphology, Conical tooth, Non-midline cleft li... |
ORPHA:1071 |
Agnathia-Holoprosencephaly-Situs Inversus Syndrome |
|
Microglossia, Narrow mouth |
ORPHA:990 |
Marshall-Smith Syndrome |
|
Open mouth, Gingival overgrowth, Protruding tongue |
ORPHA:561 |
X-Linked Agammaglobulinemia |
|
Glossoptosis, Malabsorption |
ORPHA:47 |
Ogden Syndrome |
|
Global glomerulosclerosis, Polycystic kidney dysplasia, Enlarged kidney, Cardiomegaly |
OMIM:300855 |
Spondylo-Ocular Syndrome |
|
Microphthalmia, Aplasia/Hypoplasia of the lens |
ORPHA:85194 |
Cerebrooculofacioskeletal Syndrome 1 |
|
Microphthalmia |
OMIM:214150 |
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome |
|
Decreased fertility, Hypogonadism, Abnormal rib morphology, Decreased testicular size |
ORPHA:2234 |
Oculopalatocerebral Syndrome |
|
Microphthalmia |
OMIM:257910 |
Pelvis-Shoulder Dysplasia |
|
Microphthalmia, Spina bifida occulta |
OMIM:169550 |
Hydrolethalus |
|
Microphthalmia, Anophthalmia, Anencephaly |
ORPHA:2189 |
Nance-Horan Syndrome |
|
Microphthalmia |
ORPHA:627 |
Cohen Syndrome |
|
Macrodontia, Aplasia/Hypoplasia of the tongue, Abnormality of the dentition, High, narrow palate,... |
ORPHA:193 |
Cardiac, Facial, And Digital Anomalies With Developmental Delay |
|
Mitral atresia, Patent ductus arteriosus, Double outlet right ventricle, Supravalvar pulmonary st... |
OMIM:618164 |
Neurodevelopmental Disorder With Variable Motor And Language Impairment |
|
Protruding tongue, Everted lower lip vermilion, High palate, Open mouth, Smooth philtrum |
OMIM:617804 |
Meckel Syndrome, Type 4 |
|
Encephalocele, Microphthalmia, Meningocele, Anencephaly |
OMIM:611134 |
Cree Mental Retardation Syndrome |
|
Cleft soft palate |
OMIM:606851 |
Bresek Syndrome |
|
Microphthalmia, Optic nerve hypoplasia |
ORPHA:85284 |
Ring Chromosome 10 Syndrome |
|
Microphthalmia |
ORPHA:1438 |
Congenital Disorder Of Glycosylation, Type Iia |
|
Macrodontia, Protruding tongue, Diastema, Gingival overgrowth, Wide mouth, Thin vermilion border,... |
OMIM:212066 |
Angelman Syndrome |
|
Wide mouth, Macroglossia, Widely spaced teeth, Protruding tongue |
OMIM:105830 |
Ring Chromosome 22 Syndrome |
|
Thick vermilion border, Protruding tongue |
ORPHA:1446 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome |
|
Cleft palate, Furrowed tongue, Downturned corners of mouth, Macroglossia, Oligodontia, Branchial ... |
ORPHA:453499 |
Orofaciodigital Syndrome Type 1 |
|
Median cleft lip, Abnormal dental enamel morphology, Accessory oral frenulum, Hamartoma of tongue... |
ORPHA:2750 |
Intellectual Developmental Disorder, Autosomal Dominant 29 |
|
Thin upper lip vermilion, Dental crowding, Narrow palate, High palate, Thick vermilion border, Na... |
OMIM:616078 |
Ramos-Arroyo Syndrome |
|
Aganglionic megacolon, Carious teeth, Patent ductus arteriosus, Xerostomia, Smooth tongue, Narrow... |
ORPHA:1051 |
Ulnar-Mammary Syndrome |
|
Deformed radius, Aplasia of the 3rd metacarpal, Aplasia of the 4th metacarpal, Aplasia of the 4th... |
OMIM:181450 |
Raine Syndrome |
|
Natal tooth, Protruding tongue, Gingival overgrowth, Cleft palate, Wide mouth, High palate, Neona... |
OMIM:259775 |
Myopathy, Myofibrillar, 7 |
|
Tongue atrophy |
OMIM:617114 |
Amish Lethal Microcephaly |
|
Cleft soft palate |
ORPHA:99742 |
Bartsocas-Papas Syndrome 2 |
|
Microphthalmia |
OMIM:619339 |
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome |
|
Glossoptosis |
ORPHA:2031 |
Mucopolysaccharidosis Type 3 |
|
Hepatomegaly, Abnormal clavicle morphology, Cardiomegaly, Avascular necrosis of the capital femor... |
ORPHA:581 |
Schwartz-Jampel Syndrome |
|
Skeletal muscle atrophy, Micromelia, Coxa vara, Pectus carinatum, Wrist flexion contracture, Abno... |
ORPHA:800 |
Frontorhiny |
|
Bifid tongue, Cleft palate |
ORPHA:391474 |
X-Linked Hypophosphatemia |
|
Shortening of the talar neck, Bowing of the long bones, Bowing of the legs, Beaded ribs, Enlargem... |
ORPHA:89936 |
Microphthalmia, Syndromic 5 |
|
Microphthalmia, Anophthalmia, Optic nerve hypoplasia |
OMIM:610125 |
Neurooculocardiogenitourinary Syndrome |
|
Microphthalmia |
OMIM:618652 |
Subaortic Stenosis-Short Stature Syndrome |
|
Microphthalmia |
ORPHA:3191 |
Cerebrooculofacioskeletal Syndrome 2 |
|
Microphthalmia |
OMIM:610756 |
Cowden Syndrome 1 |
|
Colonic diverticula, Furrowed tongue, Hamartomatous polyposis, High palate, Narrow mouth |
OMIM:158350 |
Acrorenal-Mandibular Syndrome |
|
Hypoplasia of the ulna, Hypoplastic scapulae, Toe syndactyly, Congenital diaphragmatic hernia, Mi... |
OMIM:200980 |
Cardiac-Urogenital Syndrome |
|
Accessory spleen, Cor triatrium sinister, Tachycardia, Ventricular septal defect, Dextrocardia, C... |
OMIM:618280 |
Microcephaly 26, Primary, Autosomal Dominant |
|
Long philtrum, Gingival overgrowth, Protruding tongue |
OMIM:619179 |
Cardiomyopathy, Dilated, 1S |
|
Bicuspid aortic valve, Dilated cardiomyopathy, Ebstein anomaly of the tricuspid valve, Coarctatio... |
OMIM:613426 |
X-Linked Dystonia-Parkinsonism |
|
Protruding tongue |
ORPHA:53351 |
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2 |
|
Azoospermia, Abnormal rib morphology |
ORPHA:2578 |
Pagod Syndrome |
|
Abnormal clavicle morphology, Sudden cardiac death, Congenital diaphragmatic hernia, Situs invers... |
ORPHA:991 |
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies |
|
Bilateral microphthalmos, Optic nerve hypoplasia, Ethmoidal encephalocele |
OMIM:607597 |
Rodrigues Blindness |
|
Microphthalmia |
OMIM:268320 |
Mosaic Trisomy 8 |
|
Camptodactyly of finger, Cryptorchidism, Patellar aplasia, Abnormal rib morphology, Narrow pelvis... |
ORPHA:96061 |
Osteogenesis Imperfecta, Type Viii |
|
Barrel-shaped chest, Short metacarpal, Radial bowing, Femoral retroversion, Wide anterior fontane... |
OMIM:610915 |
Osteogenesis Imperfecta |
|
Micromelia, Abnormal tibia morphology, Flexion contracture, Abnormal femur morphology, Pectus car... |
ORPHA:666 |
Craniorachischisis |
|
Bifid sternum, Congenital diaphragmatic hernia, Sirenomelia |
ORPHA:63260 |
Brown-Vialetto-Van Laere Syndrome 1 |
|
Tongue atrophy, Tongue fasciculations |
OMIM:211530 |
Alagille Syndrome 1 |
|
Elevated hepatic transaminase, Hypoplasia of the ulna, Ventricular septal defect, Hepatocellular ... |
OMIM:118450 |
Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Microphthalmia, Occipital encephalocele, Optic nerve hypoplasia |
ORPHA:370959 |
Nasopalpebral Lipoma-Coloboma Syndrome |
|
Microphthalmia |
OMIM:167730 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12 |
|
Microphthalmia, Abnormally large globe |
OMIM:615249 |
Orofaciodigital Syndrome Type 10 |
|
Cleft soft palate, Accessory oral frenulum, Long philtrum |
ORPHA:2756 |
Carey-Fineman-Ziter Syndrome 1 |
|
Pierre-Robin sequence, Cleft palate, Glossoptosis, High palate, Microglossia |
OMIM:254940 |
Severe Achondroplasia-Developmental Delay-Acanthosis Nigricans Syndrome |
|
Abnormal clavicle morphology, Metaphyseal chondrodysplasia, Tibial bowing, Femoral bowing, Fibula... |
ORPHA:85165 |
Adams-Oliver Syndrome 2 |
|
Microphthalmia |
OMIM:614219 |
Methylmalonate Semialdehyde Dehydrogenase Deficiency |
|
Microphthalmia |
OMIM:614105 |
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant |
|
Microdontia, Oral leukoplakia, Furrowed tongue |
OMIM:148210 |
Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Atrial septal defect, Patent ductus arteriosus, Double outlet right ventricle |
OMIM:614886 |
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis |
|
Delayed eruption of teeth, Thin upper lip vermilion, Dental crowding, Cleft hard palate, Patent d... |
OMIM:300990 |
Cole-Carpenter Syndrome |
|
Crumpled long bones, Abnormal metaphysis morphology, Abnormal rib morphology, Bowing of the long ... |
ORPHA:2050 |
Osteopetrosis, Autosomal Recessive 8 |
|
Unilateral microphthalmos |
OMIM:615085 |
Joubert Syndrome 37 |
|
Microphthalmia |
OMIM:619185 |
Congenital Disorder Of Glycosylation, Type Iq |
|
Microphthalmia |
OMIM:612379 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Tented upper lip vermilion, Exaggerated cupid's bow, High, narrow palate, Cleft palate, Furrowed ... |
ORPHA:464738 |
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome |
|
Encephalocele, Microphthalmia |
ORPHA:228390 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 10 |
|
Microphthalmia |
OMIM:619053 |
Odontoonychodermal Dysplasia |
|
Abnormality of primary teeth, Agenesis of permanent teeth, Conical incisor, Widely spaced primary... |
OMIM:257980 |
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type |
|
Short philtrum, Cleft soft palate, Smooth philtrum |
ORPHA:293725 |
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development |
|
Microphthalmia |
OMIM:152950 |
Juvenile Sialidosis Type 2 |
|
Gingival overgrowth, Protruding tongue |
ORPHA:93399 |
Solitary Median Maxillary Central Incisor |
|
Microphthalmia, Anophthalmia |
OMIM:147250 |
Monosomy 18P |
|
Microphthalmia |
ORPHA:1598 |
Isotretinoin Embryopathy-Like Syndrome |
|
Conotruncal defect |
OMIM:243440 |
Microphthalmia With Brain And Digit Anomalies |
|
Microphthalmia, Anophthalmia |
ORPHA:139471 |
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
|
Microphthalmia |
OMIM:300863 |
Distal 22Q11.2 Microdeletion Syndrome |
|
Thin upper lip vermilion, Branchial fistula, High, narrow palate, Pyloric stenosis, Cleft palate,... |
ORPHA:261330 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
|
Exaggerated median tongue furrow, Intestinal pseudo-obstruction, Exaggerated cupid's bow, Open bi... |
ORPHA:453504 |
Native American Myopathy |
|
Cleft palate, Downturned corners of mouth, High palate, Submucous cleft soft palate, Bifid uvula |
ORPHA:168572 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
|
Exaggerated median tongue furrow, Intestinal pseudo-obstruction, Exaggerated cupid's bow, Open bi... |
ORPHA:352665 |
Loeys-Dietz Syndrome 5 |
|
Tented upper lip vermilion, Cleft soft palate, Eosinophilic infiltration of the esophagus, Hiatus... |
OMIM:615582 |
Pyknoachondrogenesis |
|
Micromelia, Short iliac bones, Hypoplastic ischia, Short thorax, Abnormal iliac wing morphology, ... |
ORPHA:3003 |
Ectodermal Dysplasia-Skin Fragility Syndrome |
|
Chapped lip, Abnormal dental morphology, Abnormality of the dentition, Carious teeth, Abnormal to... |
ORPHA:158668 |
Temtamy Syndrome |
|
Microphthalmia |
OMIM:218340 |
Pelvis-Shoulder Dysplasia |
|
Thick anterior alveolar ridges, Microglossia, Cleft palate |
ORPHA:2839 |
Trisomy 18 |
|
Ventricular septal defect, Camptodactyly of finger, Congenital diaphragmatic hernia, Cryptorchidi... |
ORPHA:3380 |
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome |
|
Microphthalmia |
ORPHA:163649 |
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion |
|
Wide mouth, Widely spaced teeth, Protruding tongue |
ORPHA:98794 |
Myoclonic-Astatic Epilepsy |
|
Microphthalmia |
ORPHA:1942 |
Developmental And Epileptic Encephalopathy 31B |
|
Gingival overgrowth, Protruding tongue |
OMIM:620352 |
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies |
|
Microphthalmia |
OMIM:618494 |
Rabson-Mendenhall Syndrome |
|
Dental crowding, Abnormality of the dentition, Gingival overgrowth, Furrowed tongue, Macroglossia... |
ORPHA:769 |
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:77298 |
Hereditary Acrokeratotic Poikiloderma |
|
Premature loss of primary teeth, Abnormality of the dentition, Open bite, Xerostomia, Gingivitis,... |
ORPHA:2907 |
Spondylometaphyseal Dysplasia, Schmidt Type |
|
Cleft soft palate |
ORPHA:93316 |
Short-Rib Thoracic Dysplasia 21 Without Polydactyly |
|
Short humerus, Trident pelvis, Bowed humerus, Flexion contracture, Short long bone, Narrow chest,... |
OMIM:619479 |
Moebius Syndrome |
|
Microphthalmia |
OMIM:157900 |
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies |
|
Azoospermia, Sprengel anomaly, Abnormal rib morphology |
OMIM:601076 |
Coloboma, Ocular, Autosomal Dominant |
|
Microphthalmia, Optic nerve aplasia |
OMIM:120200 |
Fanconi Anemia, Complementation Group S |
|
Microphthalmia |
OMIM:617883 |
Frontofacionasal Dysplasia |
|
Encephalocele, Microphthalmia |
ORPHA:1791 |
Spondylocarpotarsal Synostosis Syndrome |
|
Carpal synostosis, Epiphyseal dysplasia, Scapular winging, Short metacarpal, Bowed humerus, Tarsa... |
OMIM:272460 |
Cerebrocostomandibular Syndrome |
|
Glossoptosis, Short hard palate, Cleft palate |
ORPHA:1393 |
Osteogenesis Imperfecta, Type Xvii |
|
Decreased muscle mass, Bowed humerus, Intraventricular hemorrhage, Hip dislocation, Thin long bon... |
OMIM:616507 |
Septopreoptic Holoprosencephaly |
|
Abnormal rib morphology |
ORPHA:280195 |
Stevenson-Carey Syndrome |
|
Microphthalmia |
OMIM:611961 |
Baraitser-Winter Syndrome 1 |
|
Microphthalmia |
OMIM:243310 |
Exudative Vitreoretinopathy 2, X-Linked |
|
Microphthalmia |
OMIM:305390 |
Rere-Related Neurodevelopmental Syndrome |
|
Microphthalmia |
ORPHA:494344 |
Spondyloepiphyseal Dysplasia Congenita |
|
Glossoptosis, Cleft palate |
ORPHA:94068 |
Imerslund-Gräsbeck Syndrome |
|
Glossitis, Angular cheilitis |
ORPHA:35858 |
Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome |
|
Submucous cleft soft palate, Patent ductus arteriosus, Cleft soft palate |
ORPHA:2282 |
Fibrous Dysplasia Of Bone |
|
Abnormal clavicle morphology, Abnormal morphology of the radius, Bowing of the long bones, Abnorm... |
ORPHA:249 |
Otodental Syndrome |
|
Microphthalmia, Lens coloboma |
ORPHA:2791 |
Kleefstra Syndrome Due To 9Q34 Microdeletion |
|
Downturned corners of mouth, Macroglossia, Everted lower lip vermilion, Protruding tongue |
ORPHA:96147 |
Hallermann-Streiff Syndrome |
|
Natal tooth, Abnormality of the dentition, High, narrow palate, Supernumerary tooth, Abnormality ... |
ORPHA:2108 |
Au-Kline Syndrome |
|
Dental malocclusion, Cleft palate, Downturned corners of mouth, Oligodontia, High palate, Open mo... |
OMIM:616580 |
1Q21.1 Microdeletion Syndrome |
|
Patent ductus arteriosus, Ankyloglossia, High palate, Long philtrum |
ORPHA:250989 |
Manitoba Oculotrichoanal Syndrome |
|
Microphthalmia, Anophthalmia |
OMIM:248450 |
Smith-Lemli-Opitz Syndrome |
|
Finger syndactyly, Ventricular septal defect, Rhizomelia, Proximal placement of thumb, Congenital... |
ORPHA:818 |
Microcephaly 20, Primary, Autosomal Recessive |
|
Microphthalmia, Optic nerve hypoplasia |
OMIM:617914 |
Generalized Pustular Psoriasis |
|
Geographic tongue, Cheilitis |
ORPHA:247353 |
Tarp Syndrome |
|
Pierre-Robin sequence, Alveolar ridge overgrowth, Cleft palate, Glossoptosis, Abnormal duodenum m... |
ORPHA:2886 |
Charcot-Marie-Tooth Disease Type 4B2 |
|
Difficulty in tongue movements, Tongue atrophy |
ORPHA:99956 |
Robinow Syndrome, Autosomal Dominant 1 |
|
Delayed eruption of teeth, Thin upper lip vermilion, Short lingual frenulum, Dental crowding, Per... |
OMIM:180700 |
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency |
|
Umbilical hernia, Bilateral microphthalmos |
ORPHA:369891 |
Orofaciodigital Syndrome Type 14 |
|
Accessory oral frenulum, Hamartoma of tongue, Supernumerary tooth, Patent ductus arteriosus, Apla... |
ORPHA:434179 |
Omodysplasia 1 |
|
Short humerus, Rhizomelia, Ventricular septal defect, Increased fibular diameter, Cryptorchidism,... |
OMIM:258315 |
Matthew-Wood Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:2470 |
Multiple Benign Circumferential Skin Creases On Limbs |
|
Microphthalmia, Umbilical hernia |
ORPHA:2505 |
Klippel-Feil Syndrome 1, Autosomal Dominant |
|
Congenital muscular torticollis, Sprengel anomaly, Abnormal rib morphology |
OMIM:118100 |
Camptodactyly Syndrome, Guadalajara Type 3 |
|
Sternocleidomastoid amyotrophy, Small hand, Abnormal rib morphology, Short foot, Spina bifida occ... |
ORPHA:488434 |
Atelosteogenesis Type Iii |
|
Absent humerus, Epiphyseal stippling of the humerus, Short tubular bones of the hand, Abnormality... |
ORPHA:56305 |
Maternal Phenylketonuria |
|
Ventricular septal defect, Coarctation of aorta, Abnormal heart morphology, Hypoplastic left hear... |
ORPHA:2209 |
Down Syndrome |
|
Ventricular septal defect, Complete atrioventricular canal defect, Pulmonary artery stenosis, Pat... |
OMIM:190685 |
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Microphthalmia |
ORPHA:163966 |
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Ventricular septal defect, Bicuspid aortic valve, Coarctation of aorta, Mitral valve prolapse, At... |
ORPHA:371428 |
Al-Gazali Syndrome |
|
Proximal radio-ulnar synostosis, Bowed humerus, Bilateral talipes equinovarus, Broad distal phala... |
OMIM:609465 |
Opitz Gbbb Syndrome |
|
Natal tooth, Cleft lip, Patent ductus arteriosus, Tracheoesophageal fistula, Cleft palate, Ectopi... |
ORPHA:2745 |
Joubert Syndrome 14 |
|
Encephalocele, Microphthalmia, Meningocele |
OMIM:614424 |
Fanconi Anemia, Complementation Group I |
|
Microphthalmia, Optic nerve hypoplasia |
OMIM:609053 |
Kallmann Syndrome-Heart Disease Syndrome |
|
Anomalous origin of left coronary artery from the pulmonary artery, Dilated cardiomyopathy, Right... |
ORPHA:2326 |
Norrie Disease |
|
Hypoplasia of the iris, Microphthalmia, Buphthalmos |
OMIM:310600 |
Curry-Jones Syndrome |
|
Microphthalmia |
ORPHA:1553 |
Yuan-Harel-Lupski Syndrome |
|
Ventricular septal defect, Aortic root aneurysm, Bicuspid aortic valve, Double outlet right ventr... |
OMIM:616652 |
Congenital Sialidosis Type 2 |
|
Gingival overgrowth, Protruding tongue |
ORPHA:93400 |
Vitreoretinochoroidopathy |
|
Microphthalmia |
OMIM:193220 |
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
|
Microphthalmia |
ORPHA:404440 |
Microphthalmia With Limb Anomalies |
|
Microphthalmia, Anophthalmia |
OMIM:206920 |
Nasopalpebral Lipoma-Coloboma Syndrome |
|
Microphthalmia, Bilateral microphthalmos |
ORPHA:2399 |
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Protruding tongue, Diastema, Thick lower lip vermilion, Widely-spaced maxillary central incisors,... |
OMIM:301040 |
Microphthalmia, Isolated, With Coloboma 9 |
|
Microphthalmia |
OMIM:615145 |
Treacher Collins Syndrome 1 |
|
Cleft soft palate, Cleft palate, Wide mouth, Abnormal parotid gland morphology, Narrow mouth |
OMIM:154500 |
Congenital Fibrinogen Deficiency |
|
Microphthalmia |
ORPHA:335 |
Trichothiodystrophy 3, Photosensitive |
|
Microphthalmia |
OMIM:616395 |
Orofaciodigital Syndrome Xiv |
|
Natal tooth, Hamartoma of tongue, Cleft lip, Supernumerary tooth, Patent ductus arteriosus, Aplas... |
OMIM:615948 |
Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Protruding tongue, High, narrow palate, Patent ductus arteriosus, Macroglossia, High palate |
OMIM:214100 |
Warburg Micro Syndrome 4 |
|
Microphthalmia |
OMIM:615663 |
Limb-Mammary Syndrome |
|
Cleft hard palate, Cleft lip, Cleft palate, Hypodontia, Submucous cleft soft palate, Bifid uvula |
ORPHA:69085 |
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Ventricular septal defect, Pulmonic stenosis, Pulmonary artery atresia, Arthrogryposis multiplex ... |
OMIM:301056 |
Fanconi Anemia, Complementation Group R |
|
Microphthalmia |
OMIM:617244 |
Autosomal Dominant Robinow Syndrome |
|
Median cleft lip and palate, Open bite, High, narrow palate, Abnormality of the gingiva, Supernum... |
ORPHA:3107 |
Charcot-Marie-Tooth Disease Type 1F |
|
Tongue atrophy |
ORPHA:101085 |
Ciliary Dyskinesia, Primary, 20 |
|
Atrial situs inversus, Ventricular septal defect, Dextrocardia, Situs inversus totalis, Pulmonary... |
OMIM:615067 |
Mucoepithelial Dysplasia, Hereditary |
|
Erythematous oral mucosa, Furrowed tongue |
OMIM:158310 |
Kinsship Syndrome |
|
Thin upper lip vermilion, Thick lower lip vermilion, Gingival overgrowth, Downturned corners of m... |
OMIM:619297 |
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness |
|
Microphthalmia |
OMIM:617306 |
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3 |
|
Eclabion, Thin upper lip vermilion, Cleft soft palate, High, narrow palate, Deep philtrum, Cleft ... |
OMIM:619950 |
Heart And Brain Malformation Syndrome |
|
Microphthalmia |
OMIM:616920 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9 |
|
Buphthalmos, Microphthalmia |
OMIM:616538 |
Familial Osteodysplasia, Anderson Type |
|
Aplastic clavicle, Missing ribs, Abnormal rib morphology, Bifid femur, Hypertension, Aplasia/hypo... |
ORPHA:2769 |
Refsum Disease |
|
Microphthalmia |
ORPHA:773 |
Ulbright-Hodes Syndrome |
|
Short humerus, Short metacarpal, Cryptorchidism, Humeroradial synostosis, Abnormal rib morphology... |
ORPHA:3404 |
Tetraamelia-Multiple Malformations Syndrome |
|
Cryptorchidism, Aplasia/Hypoplasia involving the pelvis, Abnormal rib morphology, Missing ribs |
ORPHA:3301 |
Agel Amyloidosis |
|
Tongue atrophy, Xerostomia |
ORPHA:85448 |
Leukocyte Adhesion Deficiency Type Ii |
|
Severe periodontitis, Protruding tongue, Deep philtrum, Premature loss of teeth, Gingival overgro... |
ORPHA:99843 |
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
|
Cleft lip, Patent ductus arteriosus, Furrowed tongue, High palate, Broad alveolar ridges, Smooth ... |
OMIM:616975 |
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form |
|
Esophageal stenosis, Anal fissure, Carious teeth, Esophageal stricture, Narrow mouth, Ankylogloss... |
ORPHA:89842 |
3P25.3 Microdeletion Syndrome |
|
Microphthalmia |
ORPHA:435638 |
Warburg Micro Syndrome 3 |
|
Microphthalmia |
OMIM:614222 |
Marden-Walker Syndrome |
|
Microphthalmia |
OMIM:248700 |
Fetal Alcohol Syndrome |
|
Microphthalmia |
ORPHA:1915 |
Walker-Warburg Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:899 |
Kapur-Toriello Syndrome |
|
Microphthalmia |
ORPHA:2328 |
Charcot-Marie-Tooth Disease Type 4C |
|
Difficulty in tongue movements, Tongue atrophy, Tongue fasciculations |
ORPHA:99949 |
Roberts-Sc Phocomelia Syndrome |
|
Tetraphocomelia, Knee flexion contracture, Atrial septal defect, Phocomelia, Wrist flexion contra... |
OMIM:268300 |
Familial Exudative Vitreoretinopathy |
|
Microphthalmia |
ORPHA:891 |
Congenital Disorder Of Glycosylation, Type Iie |
|
Protruding tongue, Thick vermilion border, Smooth philtrum, Narrow mouth |
OMIM:608779 |
Marshall-Smith Syndrome |
|
Eclabion, Irregular dentition, Pyloric stenosis, Patent ductus arteriosus, Gingival overgrowth, A... |
OMIM:602535 |
Autosomal Dominant Popliteal Pterygium Syndrome |
|
Finger syndactyly, Toe syndactyly, Cryptorchidism, Split hand, Abnormal rib morphology |
ORPHA:1300 |
Coffin-Lowry Syndrome |
|
Hyperextensibility of the finger joints, Short metacarpal, Tapered finger, Pectus excavatum, Coxa... |
OMIM:303600 |
Radio-Renal Syndrome |
|
Micromelia, Hypoplasia of the radius, Abnormal rib morphology, Short palm, Brachydactyly |
ORPHA:3015 |
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures |
|
Protruding tongue |
OMIM:619580 |
Developmental And Epileptic Encephalopathy 100 |
|
Tented upper lip vermilion, Protruding tongue, Gingival overgrowth, High palate, Microdontia, Ena... |
OMIM:619777 |
Charge Syndrome |
|
Secundum atrial septal defect, Hand monodactyly, Atrial septal defect, Aplasia/Hypoplasia of the ... |
OMIM:214800 |
Trichothiodystrophy 4, Nonphotosensitive |
|
Microphthalmia |
OMIM:234050 |
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies |
|
Microphthalmia |
OMIM:620098 |
Ectodermal Dysplasia-Blindness Syndrome |
|
Microphthalmia |
ORPHA:1806 |
Distal Deletion 15Q |
|
Thin upper lip vermilion, Abnormality of the dentition, Patent ductus arteriosus, Cleft palate, S... |
ORPHA:1596 |
Chromosome 1Q41-Q42 Deletion Syndrome |
|
Microphthalmia |
OMIM:612530 |
Thoracic Outlet Syndrome |
|
Abnormal rib morphology |
ORPHA:97330 |
Giant Cell Arteritis |
|
Glossitis |
ORPHA:397 |
Oculofaciocardiodental Syndrome |
|
Microphthalmia |
ORPHA:2712 |
X-Linked Intellectual Disability, Nascimento Type |
|
Ventricular septal defect, Patent ductus arteriosus, Double outlet right ventricle, Abnormal vena... |
ORPHA:163956 |
3Q29 Microduplication Syndrome |
|
Aniridia, Microphthalmia |
ORPHA:251038 |
Monosomy 9Q22.3 |
|
Rhabdomyosarcoma, Pectus excavatum, Abnormal rib morphology, Cardiac fibroma, Polydactyly |
ORPHA:77301 |
Chromosome 13Q33-Q34 Deletion Syndrome |
|
Encephalocele, Microphthalmia, Anencephaly |
OMIM:619148 |
Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Microphthalmia |
OMIM:241410 |
Persistent Hyperplastic Primary Vitreous |
|
Buphthalmos, Microphthalmia, Phthisis bulbi, Macular hypoplasia |
ORPHA:91495 |
Adams-Oliver Syndrome |
|
Encephalocele, Microphthalmia |
ORPHA:974 |
Nance-Horan Syndrome |
|
Microphthalmia |
OMIM:302350 |
Angelman Syndrome |
|
Wide mouth, Widely spaced teeth, Protruding tongue |
ORPHA:72 |
Cousin Syndrome |
|
Microglossia, Alveolar ridge overgrowth, Cleft palate |
OMIM:260660 |
Ritscher-Schinzel Syndrome 3 |
|
Microphthalmia |
OMIM:619135 |
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies |
|
Microphthalmia |
OMIM:618571 |
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction |
|
Patent ductus arteriosus, Contracture of the proximal interphalangeal joint of the 4th finger, Pu... |
OMIM:618223 |
Distal Deletion 12Q |
|
Median cleft lip, High, narrow palate, Supernumerary tooth, Esophageal atresia, Pyloric stenosis,... |
ORPHA:96149 |
Joubert Syndrome 1 |
|
Macroglossia, Triangular-shaped open mouth, Protruding tongue |
OMIM:213300 |
Telo2-Related Intellectual Disability-Neurodevelopmental Disorder |
|
Downturned corners of mouth, Ankyloglossia, Cleft palate |
ORPHA:488642 |
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
|
Buphthalmos, Microphthalmia, Phthisis bulbi |
OMIM:221900 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2 |
|
Buphthalmos, Microphthalmia, Encephalocele |
OMIM:613150 |
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type |
|
Microphthalmia |
ORPHA:2728 |
Homozygous Familial Hypercholesterolemia |
|
Precocious atherosclerosis, Abnormal internal carotid artery morphology, Tendon xanthomatosis, Pe... |
ORPHA:391665 |
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome |
|
Microphthalmia |
ORPHA:1352 |
Okur-Chung Neurodevelopmental Syndrome |
|
Thin upper lip vermilion, High palate, Protruding tongue |
OMIM:617062 |
Meckel Syndrome, Type 1 |
|
Smooth philtrum, Thin upper lip vermilion, Natal tooth, Intestinal malrotation, Cleft upper lip, ... |
OMIM:249000 |
X-Linked Dominant Chondrodysplasia Punctata |
|
Microphthalmia |
ORPHA:35173 |
Encephalocraniocutaneous Lipomatosis |
|
Hypoplasia of the iris, Microphthalmia |
OMIM:613001 |
Stickler Syndrome |
|
Abnormal dental enamel morphology, Cleft upper lip, Open bite, Cleft palate, Glossoptosis, Macrog... |
ORPHA:828 |
Micro Syndrome |
|
Microphthalmia |
ORPHA:2510 |
Cerebrooculofacioskeletal Syndrome 4 |
|
Bilateral microphthalmos |
OMIM:610758 |
Ear-Patella-Short Stature Syndrome |
|
Camptodactyly of finger, Aplastic clavicle, Cryptorchidism, Patellar aplasia, Abnormal rib morpho... |
ORPHA:2554 |
Stuve-Wiedemann Syndrome 1 |
|
Carious teeth, Pursed lips, Thin vermilion border, Smooth tongue |
OMIM:601559 |
Martsolf Syndrome 1 |
|
Microphthalmia |
OMIM:212720 |
Warburg Micro Syndrome 2 |
|
Microphthalmia |
OMIM:614225 |
Frontonasal Dysplasia 2 |
|
Encephalocele, Microphthalmia |
OMIM:613451 |
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form |
|
Enamel hypoplasia, Smooth tongue, Oral mucosal blisters |
ORPHA:79396 |
Kindler Epidermolysis Bullosa |
|
Finger syndactyly, Camptodactyly of finger, Flexion contracture, Abnormal rib morphology, Anemia,... |
ORPHA:2908 |
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Thin upper lip vermilion, Patent ductus arteriosus, Downturned corners of mouth, Glossoptosis, Ma... |
ORPHA:444077 |
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2 |
|
Patent ductus arteriosus, Cleft soft palate |
OMIM:614557 |
Kapur-Toriello Syndrome |
|
Microphthalmia |
OMIM:244300 |
Oculoauricular Syndrome |
|
Phthisis bulbi, Macular hypoplasia, Microphakia, Microphthalmia, Spina bifida occulta |
OMIM:612109 |
Vacterl With Hydrocephalus |
|
Microphthalmia, Anophthalmia, Spina bifida |
ORPHA:3412 |
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome |
|
Microphthalmia, Anophthalmia |
OMIM:615877 |
Skin Creases, Congenital Symmetric Circumferential, 1 |
|
Microphthalmia |
OMIM:156610 |
Oculodentodigital Dysplasia, Autosomal Recessive |
|
Microphthalmia |
OMIM:257850 |
Townes-Brocks Syndrome |
|
Broad hallux phalanx, Toe syndactyly, Abnormal pulmonary valve morphology, Preaxial hand polydact... |
ORPHA:857 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 |
|
Encephalocele, Microphthalmia, Optic nerve hypoplasia |
OMIM:614643 |
Holoprosencephaly 13, X-Linked |
|
Ventricular septal defect, Patent ductus arteriosus, Hypoplastic left heart, Double outlet right ... |
OMIM:301043 |
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
|
Macroglossia, Open mouth, Protruding tongue |
ORPHA:258 |
Pseudotrisomy 13 Syndrome |
|
Encephalocele, Microphthalmia |
OMIM:264480 |
Mosaic Trisomy 9 |
|
Microphthalmia, Spina bifida |
ORPHA:99776 |
Focal Dermal Hypoplasia |
|
Hypoplasia of the iris, Microphthalmia, Umbilical hernia, Spina bifida |
ORPHA:2092 |
Joubert Syndrome 2 |
|
Encephalocele, Microphthalmia |
OMIM:608091 |
Curry-Jones Syndrome |
|
Occipital meningocele, Microphthalmia, Lipomyelomeningocele |
OMIM:601707 |
Wolcott-Rallison Syndrome |
|
Atrial septal defect, Double outlet right ventricle |
ORPHA:1667 |
Trichothiodystrophy 1, Photosensitive |
|
Microphthalmia |
OMIM:601675 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Abnormality of the dentition, Cleft palate, Anteriorly placed anus, Microglossia, Enamel hypoplasia |
OMIM:151050 |
Cowden Syndrome |
|
Furrowed tongue, Hamartomatous polyposis, Macroglossia, Colorectal polyposis, High palate |
ORPHA:201 |
Blomstrand Lethal Chondrodysplasia |
|
Natal tooth, Long philtrum, Protruding tongue |
ORPHA:50945 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
|
Occipital encephalocele, Optic nerve hypoplasia, Meningoencephalocele, Buphthalmos, Microphthalmia |
OMIM:236670 |
Chondrodysplasia Punctata 2, X-Linked Dominant |
|
Microphthalmia |
OMIM:302960 |
Microcephaly-Micromelia Syndrome |
|
Microphthalmia |
OMIM:251230 |
Meckel Syndrome 14 |
|
Microphthalmia, Occipital encephalocele |
OMIM:619879 |
Microphthalmia, Lenz Type |
|
Microphthalmia |
ORPHA:568 |
Xeroderma Pigmentosum, Complementation Group D |
|
Microphthalmia |
OMIM:278730 |
Xeroderma Pigmentosum, Complementation Group B |
|
Microphthalmia |
OMIM:610651 |
8Q21.11 Microdeletion Syndrome |
|
Microphthalmia |
ORPHA:284160 |
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies |
|
Microphthalmia |
OMIM:618727 |
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
|
Downturned corners of mouth, Intestinal malrotation, Cleft soft palate, Smooth philtrum |
OMIM:619321 |
Hardikar Syndrome |
|
Cleft soft palate, Intestinal malrotation, Celiac disease, Patent ductus arteriosus, Esophageal v... |
OMIM:301068 |
Meckel Syndrome |
|
Aplasia/Hypoplasia of the tongue, Cleft palate, Furrowed tongue |
ORPHA:564 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Stomatitis, Glossitis, Smooth philtrum |
ORPHA:79282 |
3Q29 Microdeletion Syndrome |
|
Microphthalmia |
ORPHA:65286 |
Multiple Endocrine Neoplasia Type 2 |
|
Aganglionic megacolon, Abnormal tongue morphology, Thick vermilion border, Ganglioneuromatosis |
ORPHA:653 |
Chromosome 8Q21.11 Deletion Syndrome |
|
Microphthalmia |
OMIM:614230 |
Mosaic Trisomy 1 |
|
Microphthalmia |
ORPHA:1692 |
Fontaine Progeroid Syndrome |
|
Thin upper lip vermilion, Protruding tongue, High, narrow palate, Patent ductus arteriosus, Anter... |
OMIM:612289 |
Phace Association |
|
Microphthalmia, Optic nerve hypoplasia |
OMIM:606519 |
Cat Eye Syndrome |
|
Microphthalmia, Umbilical hernia |
OMIM:115470 |
Linear Skin Defects With Multiple Congenital Anomalies 3 |
|
Microphthalmia |
OMIM:300952 |
Blepharophimosis, Ptosis, And Epicanthus Inversus |
|
Microphthalmia |
OMIM:110100 |
Monosomy 9P |
|
Proximal placement of thumb, Congenital diaphragmatic hernia, Abnormality of the tarsal bones, Cr... |
ORPHA:261112 |
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome |
|
Branchial cyst, Thin upper lip vermilion, Natal tooth, Carious teeth, Downturned corners of mouth... |
OMIM:620186 |
Galloway-Mowat Syndrome 1 |
|
Hypoplasia of the iris, Microphthalmia |
OMIM:251300 |
Stromme Syndrome |
|
Microphthalmia, Optic nerve hypoplasia |
OMIM:243605 |
Incontinentia Pigmenti |
|
Microphthalmia, Spina bifida occulta, Umbilical hernia |
ORPHA:464 |
Galloway-Mowat Syndrome 3 |
|
Microphthalmia |
OMIM:617729 |
Pierson Syndrome |
|
Rieger anomaly, Hypoplasia of the ciliary body, Hypoplasia of the iris, Macular hypoplasia, Micro... |
OMIM:609049 |
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1 |
|
Thin upper lip vermilion, Tented upper lip vermilion, Hypoplastic philtrum, Protruding tongue, Th... |
OMIM:309580 |
Holoprosencephaly |
|
Encephalocele, Anophthalmia, Spinal dysraphism, Branchial anomaly, Microphthalmia |
ORPHA:2162 |
Papillorenal Syndrome |
|
Microphthalmia |
OMIM:120330 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z |
|
Tongue atrophy |
ORPHA:466768 |
Charge Syndrome |
|
Hypogonadotropic hypogonadism, Facial palsy, Cryptorchidism, Abnormal tibia morphology, Abnormal ... |
ORPHA:138 |
Fryns Syndrome |
|
Microphthalmia |
ORPHA:2059 |
Fanconi Anemia, Complementation Group F |
|
Microphthalmia |
OMIM:603467 |
Isolated Arrhinia |
|
Microphthalmia |
ORPHA:1134 |
Hallermann-Streiff Syndrome |
|
Microphthalmia, Spina bifida |
OMIM:234100 |
Fraser Syndrome |
|
Anal stenosis, Dental crowding, Cleft upper lip, Dental malocclusion, Orofacial cleft, Ectopic an... |
ORPHA:2052 |
Ohdo Syndrome, X-Linked |
|
Microphthalmia |
OMIM:300895 |
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:2250 |
Premature Aging Syndrome, Penttinen Type |
|
Microphthalmia |
OMIM:601812 |
Yunis-Varon Syndrome |
|
Premature loss of primary teeth, Abnormality of dental structure, High, narrow palate, Pyloric st... |
ORPHA:3472 |
Glucagonoma |
|
Stomatitis, Intestinal obstruction, Glossitis, Steatorrhea |
ORPHA:97280 |
Holoprosencephaly-Postaxial Polydactyly Syndrome |
|
Encephalocele, Microphthalmia, Umbilical hernia |
ORPHA:2166 |
2Q31.1 Microdeletion Syndrome |
|
Microphthalmia |
ORPHA:251014 |
Frank-Ter Haar Syndrome |
|
Ventricular septal defect, Secundum atrial septal defect, Mitral valve prolapse, Camptodactyly, A... |
OMIM:249420 |
Fanconi Anemia, Complementation Group E |
|
Microphthalmia |
OMIM:600901 |
Okamoto Syndrome |
|
Exaggerated median tongue furrow, Anal stenosis, Tented upper lip vermilion, Intestinal malrotati... |
ORPHA:2729 |
Momo Syndrome |
|
Bilateral microphthalmos |
ORPHA:2563 |
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome |
|
Microphthalmia |
ORPHA:1236 |
Fanconi Anemia, Complementation Group A |
|
Microphthalmia |
OMIM:227650 |
Atelis Syndrome 2 |
|
Microphthalmia |
OMIM:620185 |
Diamond-Blackfan Anemia |
|
Cleft lip, High palate, Cleft soft palate, Adenocarcinoma of the colon |
ORPHA:124 |
Lymphedema-Distichiasis Syndrome |
|
Microphthalmia |
OMIM:153400 |
Kawasaki Disease |
|
Glossitis, Cheilitis |
ORPHA:2331 |
Basal Cell Nevus Syndrome 1 |
|
Microphthalmia, Spina bifida |
OMIM:109400 |
Teebi-Shaltout Syndrome |
|
Microphthalmia |
OMIM:272950 |
Incontinentia Pigmenti |
|
Hypoplasia of the fovea, Microphthalmia |
OMIM:308300 |
Dubowitz Syndrome |
|
Hypoplasia of the iris, Microphthalmia |
OMIM:223370 |
Smith-Lemli-Opitz Syndrome |
|
Aganglionic megacolon, Dental crowding, Intestinal malrotation, Pyloric stenosis, Patent ductus a... |
OMIM:270400 |
Oculocerebrorenal Syndrome Of Lowe |
|
Cryptorchidism, Abnormal rib morphology, Hip dislocation, Genu valgum, Anemia, Azoospermia, Abnor... |
ORPHA:534 |
Jacobsen Syndrome |
|
Microphthalmia, Macular hypoplasia |
OMIM:147791 |
Oculo-Palato-Cerebral Syndrome |
|
Microphthalmia |
ORPHA:2714 |
Viss Syndrome |
|
Tortuous cerebral arteries, Epidural hemorrhage, Right ventricular dilatation, Atrial septal defe... |
OMIM:619472 |
Microphthalmia, Syndromic 2 |
|
Ventricular septal defect, Dextrocardia, Patent ductus arteriosus, Hypoplastic aortic arch, Flexi... |
OMIM:300166 |
Mycophenolate Mofetil Embryopathy |
|
Microphthalmia |
ORPHA:268249 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Microphthalmia, Optic nerve hypoplasia, Spina bifida |
ORPHA:508498 |
Fanconi Anemia, Complementation Group C |
|
Microphthalmia |
OMIM:227645 |
Linear Nevus Sebaceus Syndrome |
|
Microphthalmia |
ORPHA:2612 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Thin upper lip vermilion, High, narrow palate, Short uvula, Broad philtrum, Short philtrum, High ... |
OMIM:619475 |
Degcags Syndrome |
|
Jejunal atresia, Protruding tongue, Hiatus hernia, Pyloric stenosis, Patent ductus arteriosus, Wi... |
OMIM:619488 |
Acro-Renal-Ocular Syndrome |
|
Microphthalmia, Optic disc hypoplasia |
ORPHA:959 |
Acrofrontofacionasal Dysostosis 1 |
|
Microphthalmia |
OMIM:201180 |
Chilton-Okur-Chung Neurodevelopmental Syndrome |
|
Thin upper lip vermilion, Patent ductus arteriosus, Agenesis of incisor, Wide mouth, Widely space... |
OMIM:619841 |
Neuroocular Syndrome |
|
Short uvula, Submucous cleft hard palate, Downturned corners of mouth, Widely spaced teeth, Torus... |
OMIM:619539 |
Steinfeld Syndrome |
|
Microphthalmia |
OMIM:184705 |
Histiocytoid Cardiomyopathy |
|
Microphthalmia, Congenital aphakia |
ORPHA:137675 |
Trichothiodystrophy |
|
Umbilical hernia, Bilateral microphthalmos |
ORPHA:33364 |
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form |
|
Erosion of oral mucosa, Anal fissure, Oral mucosal blisters, Carious teeth, Narrow mouth, Esophag... |
ORPHA:79408 |
Microphthalmia, Syndromic 9 |
|
Anophthalmia, Bilateral microphthalmos |
OMIM:601186 |
Holoprosencephaly 9 |
|
Microphthalmia, Anophthalmia, Optic nerve hypoplasia |
OMIM:610829 |
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
|
Pyloric stenosis, Supernumerary tooth, Widely spaced teeth, Cleft soft palate |
ORPHA:268261 |
Bilateral Perisylvian Polymicrogyria |
|
Protruding tongue |
ORPHA:98889 |
Hutchinson-Gilford Progeria Syndrome |
|
Delayed eruption of teeth, Short lingual frenulum, Dental crowding, Persistence of primary teeth,... |
ORPHA:740 |
Oculodentodigital Dysplasia |
|
Microphthalmia |
OMIM:164200 |
Stüve-Wiedemann Syndrome |
|
Smooth tongue, Abnormality of the dentition |
ORPHA:3206 |
Microgastria-Limb Reduction Defect Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:2538 |
Holoprosencephaly 7 |
|
Occipital meningocele, Microphthalmia, Bilateral microphthalmos |
OMIM:610828 |
Fanconi Anemia, Complementation Group L |
|
Microphthalmia |
OMIM:614083 |
Microsporidiosis |
|
Glossitis |
ORPHA:2552 |
Fanconi Anemia |
|
Aplasia/Hypoplasia of the iris, Microphthalmia, Umbilical hernia, Spina bifida |
ORPHA:84 |
Rothmund-Thomson Syndrome, Type 2 |
|
Microphthalmia |
OMIM:268400 |
Fanconi Anemia, Complementation Group D2 |
|
Microphthalmia |
OMIM:227646 |
Kenny-Caffey Syndrome, Type 2 |
|
Microphthalmia |
OMIM:127000 |
Microcephaly-Lymphedema-Chorioretinopathy Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:2526 |
Fraser Syndrome 2 |
|
Microphthalmia |
OMIM:617666 |
22Q11.2 Deletion Syndrome |
|
Spina bifida, Meningocele, Occipital myelomeningocele, Umbilical hernia, Microphthalmia |
ORPHA:567 |
Mosaic Variegated Aneuploidy Syndrome |
|
Microphthalmia |
ORPHA:1052 |
Bartsocas-Papas Syndrome 1 |
|
Microphthalmia |
OMIM:263650 |
Cockayne Syndrome B |
|
Hypoplasia of the iris, Microphthalmia |
OMIM:133540 |
Phace Syndrome |
|
Microphthalmia, Lens coloboma, Optic nerve hypoplasia |
ORPHA:42775 |
Holoprosencephaly 14 |
|
Ventricular septal defect, Double outlet right ventricle, Aortic valve atresia |
OMIM:619895 |
Microphthalmia With Limb Anomalies |
|
Microphthalmia, True anophthalmia |
ORPHA:1106 |
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Microphthalmia |
OMIM:620005 |
Frontofacionasal Dysplasia |
|
Cranium bifidum occultum, Microphthalmia |
OMIM:229400 |
Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Microphthalmia |
OMIM:309801 |
Chromosome 13Q14 Deletion Syndrome |
|
Microphthalmia, Umbilical hernia |
OMIM:613884 |
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs |
|
Microphthalmia |
OMIM:601552 |
Osteoporosis-Pseudoglioma Syndrome |
|
Microphthalmia, Phthisis bulbi |
OMIM:259770 |
Cockayne Syndrome Type 3 |
|
Microphthalmia |
ORPHA:90324 |
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type |
|
Cleft upper lip, Esophageal atresia, Ectopic anus, Long philtrum, Bifid tongue, Anal atresia |
ORPHA:93271 |
Mend Syndrome |
|
Microphthalmia |
ORPHA:401973 |
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome |
|
Cranium bifidum occultum, Microphthalmia |
ORPHA:306542 |
Fryns Syndrome |
|
Microphthalmia |
OMIM:229850 |
Focal Dermal Hypoplasia |
|
Anophthalmia, Myelomeningocele, Umbilical hernia, Aniridia, Microphthalmia, Spina bifida occulta |
OMIM:305600 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
|
Buphthalmos, Microphthalmia, Hypoplasia of the retina |
OMIM:253280 |
Myhre Syndrome |
|
Microphthalmia |
OMIM:139210 |
Microphthalmia With Linear Skin Defects Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:2556 |
Roberts Syndrome |
|
Microphthalmia |
ORPHA:3103 |
Microphthalmia, Syndromic 6 |
|
Microglossia, High palate, Bifid uvula, Cleft palate |
OMIM:607932 |
Plague |
|
Chapped lip, Inflammation of the large intestine, Glossitis, Enterocolitis |
ORPHA:707 |
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome |
|
Microphthalmia |
ORPHA:3186 |
Bosma Arhinia Microphthalmia Syndrome |
|
Microphthalmia |
OMIM:603457 |
Cockayne Syndrome |
|
Microphthalmia |
ORPHA:191 |
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency |
|
Bilateral microphthalmos, Optic nerve hypoplasia |
ORPHA:468631 |
Proboscis Lateralis |
|
Microphthalmia, Anophthalmia, Optic nerve hypoplasia |
ORPHA:141099 |
Monosomy 13Q14 |
|
Microphthalmia |
ORPHA:1587 |
Skin Creases, Congenital Symmetric Circumferential, 2 |
|
Microphthalmia |
OMIM:616734 |
Adams-Oliver Syndrome 1 |
|
Encephalocele, Microphthalmia |
OMIM:100300 |
Congenital Disorder Of Glycosylation, Type Iiw |
|
Supernumerary tooth, Ankyloglossia |
OMIM:619525 |
Mowat-Wilson Syndrome |
|
Delayed eruption of teeth, Aganglionic megacolon, Dental crowding, Abnormal dental morphology, Cl... |
ORPHA:2152 |
Tetraamelia Syndrome 1 |
|
Microphthalmia |
OMIM:273395 |
Renpenning Syndrome 1 |
|
Microphthalmia |
OMIM:309500 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Delayed eruption of teeth, Aganglionic megacolon, Dental crowding, Abnormal dental morphology, Cl... |
ORPHA:261537 |
Carney Complex |
|
Neoplasm of the stomach, Esophageal neoplasm, Neoplasm of the rectum, Abnormal hard palate morpho... |
ORPHA:1359 |
Fraser Syndrome 1 |
|
Encephalocele, Myelomeningocele, Anophthalmia, Bilateral microphthalmos |
OMIM:219000 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Delayed eruption of teeth, Aganglionic megacolon, Dental crowding, Abnormal dental morphology, Cl... |
ORPHA:261552 |
Witteveen-Kolk Syndrome |
|
Microphthalmia, Branchial fistula |
OMIM:613406 |
Autosomal Dominant Kenny-Caffey Syndrome |
|
Bilateral microphthalmos |
ORPHA:93325 |
Hydrolethalus Syndrome 1 |
|
Microphthalmia, Anencephaly |
OMIM:236680 |
8Q24.3 Microdeletion Syndrome |
|
Branchial cyst, Bilateral microphthalmos, Spina bifida occulta, Optic nerve hypoplasia |
ORPHA:508488 |
Lowe Oculocerebrorenal Syndrome |
|
Microphthalmia |
OMIM:309000 |
Norrie Disease |
|
Hypoplasia of the iris, Microphthalmia, Aplasia/Hypoplasia of the lens |
ORPHA:649 |
Holoprosencephaly 1 |
|
Microphthalmia |
OMIM:236100 |
Choreoacanthocytosis |
|
Protruding tongue |
ORPHA:2388 |
Branchiooculofacial Syndrome |
|
Microphthalmia, Branchial anomaly, Anophthalmia |
OMIM:113620 |
Familial Cerebral Saccular Aneurysm |
|
Transient ischemic attack, Cerebral berry aneurysm, Subarachnoid hemorrhage, Intracranial hemorrh... |
ORPHA:231160 |
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies |
|
Hypoplasia of the iris, Microphthalmia |
OMIM:175780 |
Doors Syndrome |
|
Double outlet right ventricle |
ORPHA:79500 |
Holoprosencephaly 2 |
|
Microphthalmia |
OMIM:157170 |
Mowat-Wilson Syndrome |
|
Microphthalmia |
OMIM:235730 |
Craniofacial Microsomia 1 |
|
Microphthalmia, Occipital encephalocele, Anophthalmia, Branchial anomaly |
OMIM:164210 |
Microphthalmia, Syndromic 1 |
|
Microphthalmia, Anophthalmia |
OMIM:309800 |