| Triphalangeal Thumb, Nonopposable |
|
Polydactyly, Triphalangeal thumb |
OMIM:190600 |
| RCAD (renal cysts and diabetes) |
|
Abnormality of the liver, Multiple renal cysts |
DECIPHER:47 |
| Syndactyly Type 2 |
|
Mesoaxial polydactyly, Sandal gap, Camptodactyly of finger, 2-3 toe syndactyly, Symphalangism aff... |
ORPHA:93403 |
| Syndactyly, Type Iv |
|
1-5 finger syndactyly, Postaxial polydactyly, 6 metacarpals, 2-3 toe syndactyly, Supernumerary me... |
OMIM:186200 |
| Polydactyly, Preaxial Ii |
|
Syndactyly, Duplication of thumb phalanx, Opposable triphalangeal thumb, Preaxial hand polydactyl... |
OMIM:174500 |
| Polydactyly, Postaxial, Type A1 |
|
Syndactyly, Preaxial hand polydactyly, Postaxial hand polydactyly, Postaxial foot polydactyly, Tr... |
OMIM:174200 |
| Polydactyly, Preaxial I |
|
Preaxial hand polydactyly, Partial duplication of thumb phalanx, Radial deviation of thumb termin... |
OMIM:174400 |
| Polydactyly, Postaxial, Type A10 |
|
Postaxial foot polydactyly, Postaxial hand polydactyly, Postaxial polydactyly type A |
OMIM:618498 |
| Polydactyly, Preaxial Iv |
|
Duplication of thumb phalanx, Preaxial polydactyly, Dysplastic distal thumb phalanges with a cent... |
OMIM:174700 |
| Triphalangeal Thumb With Polysyndactyly |
|
Finger syndactyly, Preaxial hand polydactyly, Postaxial hand polydactyly, Triphalangeal thumb, Br... |
OMIM:190605 |
| Polydactyly, Preaxial Iii |
|
Preaxial polydactyly, Triphalangeal thumb |
OMIM:174600 |
| Synpolydactyly 1 |
|
2nd-5th toe middle phalangeal hypoplasia, Finger syndactyly, Broad hallux, Mesoaxial hand polydac... |
OMIM:186000 |
| Polydactyly, Postaxial, Type A9 |
|
Postaxial foot polydactyly, Postaxial hand polydactyly |
OMIM:618219 |
| Nephronophthisis 13 |
|
Global glomerulosclerosis, Proteinuria, Glomerular subepithelial immune-complex deposits, Pancrea... |
OMIM:614377 |
| Hallux Varus And Preaxial Polysyndactyly |
|
Preaxial hand polydactyly, Syndactyly, Broad hallux, Hallux varus |
OMIM:234280 |
| Meckel Syndrome, Type 3 |
|
Hepatomegaly, Multicystic kidney dysplasia, Malformation of the hepatic ductal plate, Postaxial h... |
OMIM:607361 |
| Oliver Syndrome |
|
Postaxial hand polydactyly |
OMIM:258200 |
| Polydactyly, Postaxial, Type A2 |
|
Postaxial hand polydactyly |
OMIM:602085 |
| Nephronophthisis 19 |
|
Hepatomegaly, Malformation of the hepatic ductal plate, Splenomegaly, Stage 5 chronic kidney dise... |
OMIM:616217 |
| Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome |
|
Multicystic kidney dysplasia, Postaxial hand polydactyly, Multinodular goiter, Triphalangeal thum... |
ORPHA:2091 |
| Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
|
Bicuspid aortic valve, Proximal placement of thumb, Spina bifida, Abnormal thumb morphology, Shor... |
ORPHA:1120 |
| Campomelia, Cumming Type |
|
Bowing of the long bones, Polycystic liver disease, Short stature, Pancreatic cysts, Polycystic k... |
OMIM:211890 |
| Congenital Absence Of Upper Arm And Forearm With Hand Present |
|
Syndactyly, Abnormal lung morphology, Upper limb phocomelia, Abnormal heart morphology, Stillbirt... |
ORPHA:294975 |
| Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Conjugated hyperbilirubinemia, Early ossification of capital femoral epiphyses, Renal cyst, Hepat... |
OMIM:208500 |
| Congenital Radioulnar Synostosis |
|
Syndactyly, Abnormal morphology of the radius, Congenital hip dislocation, Abnormal morphology of... |
ORPHA:3269 |
| Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Hepatomegaly, Renal insufficiency, Portal hypertension, Absence of renal corticomedullary differe... |
OMIM:263200 |
| Camptosynpolydactyly, Complex |
|
Syndactyly, Polydactyly, Camptodactyly, Cutaneous syndactyly |
OMIM:607539 |
| Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Asplenia, Hepatic fibrosis, Neonatal death, Hepatomegaly, Malformation of the hepatic ductal plat... |
OMIM:208540 |
| Cholestasis, Progressive Familial Intrahepatic, 8 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... |
OMIM:619662 |
| Hypertriglyceridemia, Transient Infantile |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Hepatic fibrosis... |
OMIM:614480 |
| Brachydactyly, Type C |
|
Triangular shaped middle phalanx of the 2nd finger, Hypersegmentation of proximal phalanx of seco... |
OMIM:113100 |
| Campomelia, Cumming Type |
|
Hepatomegaly, Bowing of the long bones, Multicystic kidney dysplasia, Micromelia, Pancreatic cyst... |
ORPHA:1318 |
| Senior-Loken Syndrome 8 |
|
Global glomerulosclerosis, Glomerular subepithelial immune-complex deposits, Pancreatic cysts, St... |
OMIM:616307 |
| Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss |
|
Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Jaundice, Elevated c... |
OMIM:619658 |
| Nphp3-Related Meckel-Like Syndrome |
|
Multicystic kidney dysplasia, Intestinal malrotation, Abnormality of the pancreas, Abnormal liver... |
ORPHA:3032 |
| Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Abnormality of the kidney, Proteinuria... |
ORPHA:369 |
| Holt-Oram Syndrome |
|
Finger syndactyly, Atrial septal defect, Ventricular septal defect, Down-sloping shoulders, Absen... |
ORPHA:392 |
| Mody |
|
Elevated hemoglobin A1c, Abnormality of the kidney, Transient neonatal diabetes mellitus, Insulin... |
ORPHA:552 |
| Heterotaxy, Visceral, 4, Autosomal |
|
Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, Dextrotransposit... |
OMIM:613751 |
| Cerebellar Vermis Aplasia With Associated Features Suggesting Smith-Lemli-Opitz Syndrome And Meckel Syndrome |
|
Periportal fibrosis, Abnormality of the urinary system, Postaxial polydactyly |
OMIM:213010 |
| Santos Syndrome |
|
Syndactyly, Postaxial polydactyly, Metatarsus adductus, Preaxial polydactyly, Genu valgum, Polyda... |
OMIM:613005 |
| Right Atrial Isomerism |
|
Right atrial isomerism, Ventricular septal defect, Dextrocardia, Aortopulmonary collateral arteri... |
OMIM:208530 |
| Biliary Atresia, Extrahepatic |
|
Elevated hepatic transaminase, Hepatomegaly, Atretic gallbladder, Extrahepatic biliary duct atres... |
OMIM:210500 |
| Polycystic Kidney Disease 7 |
|
Renal insufficiency, Renal atrophy, Stage 5 chronic kidney disease, Multiple renal cysts, Renal i... |
OMIM:620056 |
| Neonatal Hemochromatosis |
|
Hypoglycemia, Congenital hepatic fibrosis, Increased circulating ferritin concentration, Abnormal... |
ORPHA:446 |
| Autosomal Dominant Polycystic Kidney Disease |
|
Renal insufficiency, Polycystic liver disease, Recurrent urinary tract infections, Decreased glom... |
ORPHA:730 |
| Orofaciodigital Syndrome Type 1 |
|
Micrognathia, Lobulated tongue, High palate, Clinodactyly of the 5th finger, Chronic otitis media... |
ORPHA:2750 |
| Citrullinemia, Type Ii, Adult-Onset |
|
Hypertriglyceridemia, Portal inflammation, Elevated circulating alanine aminotransferase concentr... |
OMIM:603471 |
| Gallbladder Disease 1 |
|
Elevated hepatic transaminase, Cholangitis, Portal inflammation, Jaundice, Cholestasis, Elevated ... |
OMIM:600803 |
| Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism |
|
Hepatomegaly, Diabetes mellitus, Increased circulating thyroglobulin level, Portal hypertension, ... |
OMIM:610199 |
| Scimitar Syndrome |
|
Abnormal lung morphology, Pulmonary artery hypoplasia, Atrial septal defect, Single ventricle, Pa... |
ORPHA:185 |
| Polydactyly, Postaxial, Type A5 |
|
Syndactyly, Postaxial hand polydactyly, Cutaneous finger syndactyly, Metacarpal synostosis |
OMIM:263450 |
| Renal Dysplasia, Cystic, Susceptibility To |
|
Renal insufficiency, Cystic renal dysplasia, Vesicoureteral reflux, Hyperechogenic kidneys, Renal... |
OMIM:601331 |
| Dandy-Walker Malformation-Postaxial Polydactyly Syndrome |
|
Postaxial hand polydactyly |
ORPHA:1566 |
| Meckel Syndrome, Type 7 |
|
Multicystic kidney dysplasia, Multiple glomerular cysts, Portal hypertension, Pancreatic cysts, B... |
OMIM:267010 |
| Craniosynostosis, Adelaide Type |
|
Hallux valgus, Shortening of all middle phalanges of the fingers, Craniosynostosis, Carpal bone m... |
OMIM:600593 |
| Hepatorenocardiac Degenerative Fibrosis |
|
Elevated hepatic transaminase, Portal hypertension, Hypersplenism, Jaundice, Renal cyst, Hepatosp... |
OMIM:619902 |
| Meckel Syndrome, Type 5 |
|
Bowing of the long bones, Postaxial hand polydactyly, Cleft palate, Renal cyst, Postaxial foot po... |
OMIM:611561 |
| Syndactyly-Polydactyly-Earlobe Syndrome |
|
Broad toe, Preaxial hand polydactyly, 1-2 toe complete cutaneous syndactyly, Preaxial foot polyda... |
OMIM:186350 |
| Langer Mesomelic Dysplasia |
|
Bowing of the long bones, Abnormal morphology of ulna, Micromelia, Aplasia/Hypoplasia of the fibu... |
ORPHA:2632 |
| Acropectoral Syndrome |
|
Preaxial hand polydactyly, Finger syndactyly |
ORPHA:85203 |
| Preaxial Hallucal Polydactyly |
|
Preaxial hand polydactyly, Preaxial foot polydactyly |
OMIM:601759 |
| Orofaciodigital Syndrome I |
|
Lobulated tongue, Hepatic fibrosis, High palate, Microretrognathia, Syndactyly, Hamartoma of tong... |
OMIM:311200 |
| Liebenberg Syndrome |
|
Metaphyseal widening, Elbow flexion contracture, Abnormal carpal morphology, 2-3 finger syndactyl... |
OMIM:186550 |
| Neural Tube Defects, Folate-Sensitive |
|
Spinal dysraphism |
OMIM:601634 |
| Lymphatic Malformation 8 |
|
Nonimmune hydrops fetalis, Polyhydramnios, Pericardial effusion, Stillbirth, Pleural effusion, Ge... |
OMIM:618773 |
| Polycystic Liver Disease 4 With Or Without Kidney Cysts |
|
Renal cyst, Hepatic cysts |
OMIM:617875 |
| Polycystic Liver Disease 3 With Or Without Kidney Cysts |
|
Renal cyst, Hepatic cysts |
OMIM:617874 |
| Syndactyly Type 4 |
|
1-5 finger syndactyly, Toe syndactyly, Camptodactyly of finger, 6 metacarpals, Hand polydactyly, ... |
ORPHA:93405 |
| Skeletal Dysplasia With Delayed Epiphyseal And Carpal Bone Ossification |
|
Delayed epiphyseal ossification, Cone-shaped epiphysis, Short middle phalanx of finger, Delayed o... |
OMIM:182255 |
| Congenital Heart Defects, Multiple Types, 6 |
|
Ventricular septal defect, Hypoplastic pulmonary veins, Secundum atrial septal defect, Complete a... |
OMIM:613854 |
| Bile Acid Synthesis Defect, Congenital, 3 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Hepatic bridging fib... |
OMIM:613812 |
| Sclerosing Cholangitis, Neonatal |
|
Hepatomegaly, Portal hypertension, Hepatic bridging fibrosis, Splenomegaly, Jaundice, Biliary cir... |
OMIM:617394 |
| Heterotaxy, Visceral, 7, Autosomal |
|
Dextrocardia, Mitral atresia, Situs inversus totalis, Common atrium, Hypoplasia of right ventricl... |
OMIM:616749 |
| Glycogen Storage Disease Ixc |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Postnatal growth... |
OMIM:613027 |
| 14Q24.1Q24.3 Microdeletion Syndrome |
|
Limited elbow extension and supination, Ventricular septal defect, Short thumb, Abnormal heart mo... |
ORPHA:401935 |
| Meacham Syndrome |
|
Atrial septal defect, Bicuspid aortic valve, Ventricular septal defect, Dextrocardia, Patent duct... |
OMIM:608978 |
| Tricuspid Atresia |
|
Ventricular septal defect, Hypoplasia of right ventricle, Coarctation of aorta, Persistent left s... |
ORPHA:1209 |
| Spina Bifida-Hypospadias Syndrome |
|
Spina bifida, Spinal dysraphism |
ORPHA:3176 |
| Congenital Bile Acid Synthesis Defect Type 3 |
|
Elevated circulating aspartate aminotransferase concentration, Jaundice, Elevated circulating ala... |
ORPHA:79302 |
| Cholestasis, Progressive Familial Intrahepatic, 3 |
|
Elevated hepatic transaminase, Hepatomegaly, Malabsorption, Intrahepatic cholestasis, Jaundice, S... |
OMIM:602347 |
| Partial Atrioventricular Septal Defect |
|
Recurrent respiratory infections, Bicuspid aortic valve, Transient ischemic attack, Coronary sinu... |
ORPHA:1330 |
| Heterotaxy, Visceral, 6, Autosomal |
|
Dextrocardia, Situs inversus totalis, Double outlet right ventricle, Right aortic arch, Hypoplast... |
OMIM:614779 |
| Polycystic Kidney Disease 5 |
|
Stage 5 chronic kidney disease, Hepatosplenomegaly, Polycystic kidney dysplasia, Reduced renal co... |
OMIM:617610 |
| Pulmonary Atresia-Intact Ventricular Septum Syndrome |
|
Pulmonary artery atresia, Patent ductus arteriosus, Abnormal tricuspid valve morphology |
ORPHA:1208 |
| Atrial Septal Defect 8 |
|
Atrial septal defect, Anomalous pulmonary venous return |
OMIM:614433 |
| Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits |
|
Brachydactyly, Broad hallux, Overlapping toe, Short hallux, Triangular shaped phalanges of the ha... |
OMIM:618167 |
| Pulmonary Atresia With Ventricular Septal Defect |
|
Pulmonary artery atresia, Ventricular septal defect |
OMIM:178370 |
| Bardet-Biedl Syndrome 10 |
|
Renal insufficiency, Polydactyly, Renal cyst |
OMIM:615987 |
| Polydactyly, Postaxial, Type A8 |
|
Postaxial polydactyly, Genu valgum |
OMIM:618123 |
| Acropectoral Syndrome |
|
Partial duplication of thumb phalanx, Preaxial polydactyly, Triphalangeal thumb |
OMIM:605967 |
| Bile Acid Synthesis Defect, Congenital, 5 |
|
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Portal ... |
OMIM:616278 |
| Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly |
|
Ureteral duplication, Cholangitis, Micrognathia, Short metatarsal, Renal cyst, Hepatic fibrosis, ... |
OMIM:266920 |
| Porphyria Cutanea Tarda, Type I |
|
Hepatic fibrosis, Porphyrinuria |
OMIM:176090 |
| Ectrodactyly-Polydactyly Syndrome |
|
Finger syndactyly, Camptodactyly of finger, Postaxial hand polydactyly, Symphalangism affecting t... |
ORPHA:1892 |
| Pulmonary Atresia With Intact Ventricular Septum |
|
Pulmonary artery atresia, Hypoplastic right heart |
OMIM:265150 |
| Juberg-Hayward Syndrome |
|
Aplasia/Hypoplasia of the thumb, Decreased response to growth hormone stimulation test, Cleft upp... |
OMIM:216100 |
| Dietary Iron Overload Disease |
|
Hepatomegaly, Viral hepatitis, Diabetes mellitus, Hepatocellular carcinoma, Increased circulating... |
ORPHA:139507 |
| Mitchell-Riley Syndrome |
|
Absent gallbladder, Meckel diverticulum, Diabetes mellitus, Jejunal atresia, Intestinal malrotati... |
OMIM:615710 |
| Radial Hemimelia |
|
Abnormality of the trapezium, Abnormal thumb morphology, Aplasia of the 1st metacarpal, Aplasia/H... |
ORPHA:93321 |
| Glycogen Storage Disease Iii |
|
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Elevated circulating creatine kinase c... |
OMIM:232400 |
| Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly |
|
Ventricular septal defect, Patent ductus arteriosus, Split hand, Clubbing, Absent pulmonary arter... |
OMIM:600460 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Ureteral duplication, Micrognathia, Femoral bowing, Abnormal shoulder morphology, Clinodactyly of... |
OMIM:274000 |
| Congenitally Uncorrected Transposition Of The Great Arteries |
|
Levotransposition of the great arteries, Ventricular septal defect, Abnormal pulmonary valve morp... |
ORPHA:860 |
| Glycine N-Methyltransferase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Hypermethioninemia |
OMIM:606664 |
| Hemochromatosis, Neonatal |
|
Hypoglycemia, Increased circulating ferritin concentration, Cholestasis, Hepatocellular necrosis,... |
OMIM:231100 |
| Autosomal Recessive Polycystic Kidney Disease |
|
Cholangitis, Biliary hyperplasia, Abnormal intrahepatic bile duct morphology, Hepatic fibrosis, P... |
ORPHA:731 |
| Nephronophthisis 16 |
|
Renal insufficiency, Stage 5 chronic kidney disease, Cholestasis, Periportal fibrosis, Polycystic... |
OMIM:615382 |
| Nephronophthisis-Like Nephropathy 1 |
|
Tubular basement membrane disintegration, Chronic pancreatitis, Pancreatic cysts, Stage 5 chronic... |
OMIM:613159 |
| Hemochromatosis, Type 2B |
|
Elevated hepatic transaminase, Hepatomegaly, Increased circulating ferritin concentration, Elevat... |
OMIM:613313 |
| Acrootoocular Syndrome |
|
Decreased response to growth hormone stimulation test, Abnormal finger flexion crease, Decreased ... |
ORPHA:2980 |
| Nephropathy, Progressive Tubulointerstitial, With Cholestatic Liver Disease |
|
Elevated hepatic transaminase, Chronic kidney disease, Abnormal tubulointerstitial morphology, Ch... |
OMIM:602114 |
| Preaxial Deficiency, Postaxial Polydactyly, And Hypospadias |
|
Short thumb, Postaxial hand polydactyly, Short 5th finger, Short 2nd toe |
OMIM:176305 |
| Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Hepatomegaly, Impaired glucose tolerance, Short stature, Splenomegaly, Postaxial hand polydactyly... |
OMIM:615630 |
| Laurence-Moon Syndrome |
|
Finger syndactyly, Hypoplasia of penis, Renal insufficiency, Bilateral single transverse palmar c... |
ORPHA:2377 |
| Meckel Syndrome, Type 2 |
|
Bowing of the long bones, Intestinal malrotation, Postaxial hand polydactyly, Cleft palate, Renal... |
OMIM:603194 |
| Primary Ciliary Dyskinesia |
|
Recurrent sinopulmonary infections, Abnormal atrial arrangement, Atrial situs ambiguous, Peribron... |
ORPHA:244 |
| Hydrolethalus Syndrome 2 |
|
Hydrocephalus, Postaxial hand polydactyly, Anencephaly, Postaxial foot polydactyly, Molar tooth s... |
OMIM:614120 |
| Infundibulopelvic Dysgenesis |
|
Multicystic kidney dysplasia, Microscopic hematuria |
OMIM:600989 |
| Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs |
|
Hydranencephaly, Truncus arteriosus, Ventricular septal defect, Short distal phalanx of finger |
OMIM:601355 |
| Nephronophthisis 20 |
|
Renal insufficiency, Stage 5 chronic kidney disease, Renal cyst, Nephronophthisis, Vesicoureteral... |
OMIM:617271 |
| Conotruncal Heart Malformations |
|
Broad hallux, Postaxial polydactyly, Complete atrioventricular canal defect, Double outlet right ... |
OMIM:217095 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10 |
|
Neural tube defect |
OMIM:615041 |
| Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
Micromelia, Renal cyst, Hepatic fibrosis, High palate, Sparse hair, Syndactyly, Hypospadias, Shor... |
OMIM:614091 |
| Synpolydactyly 2 |
|
Toe syndactyly, Tarsal synostosis, Polydactyly, Carpal synostosis, Metatarsal synostosis, Metacar... |
OMIM:608180 |
| Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Hyperinsulinemic hypoglycemia, Nesidioblastosis, Pancreatic islet-cell hyperplasia, Hypoglycemia |
OMIM:601820 |
| Retinitis Pigmentosa 89 |
|
Postaxial polydactyly, Micronodular cirrhosis, Esophageal varix, Hepatosplenomegaly, Hepatic fibr... |
OMIM:618955 |
| Hyperparathyroidism 2 With Jaw Tumors |
|
Pancreatic adenocarcinoma, Hyperparathyroidism, Hypercalcemia, Nephrolithiasis, Papillary renal c... |
OMIM:145001 |
| Bardet-Biedl Syndrome 11 |
|
Polydactyly |
OMIM:615988 |
| Polydactyly, Postaxial, Type A7 |
|
Postaxial foot polydactyly, Postaxial hand polydactyly, Short fifth metatarsal, 2-3 toe cutaneous... |
OMIM:617642 |
| Cardioacrofacial Dysplasia 2 |
|
Common atrium, Postaxial hand polydactyly, Clubbing, Genu valgum, Postaxial foot polydactyly, Lim... |
OMIM:619143 |
| Heterotaxy, Visceral, 12, Autosomal |
|
Dextrotransposition of the great arteries, Pulmonary artery atresia, Atrial septal defect, Patent... |
OMIM:619702 |
| Parenteral Nutrition-Associated Cholestasis |
|
Elevated hepatic transaminase, Hepatomegaly, Villous atrophy, Portal hypertension, Conjugated hyp... |
ORPHA:567983 |
| Heterotaxy, Visceral, 1, X-Linked |
|
Congenital hip dislocation, Cardiomegaly, Aqueductal stenosis, Dextrotransposition of the great a... |
OMIM:306955 |
| Meckel Syndrome, Type 6 |
|
Absent gallbladder, Postaxial hand polydactyly, Renal cyst, Horseshoe kidney, Cleft palate, Cysti... |
OMIM:612284 |
| Renal Cysts And Diabetes Syndrome |
|
Renal cyst, Glucose intolerance, Pancreatic hypoplasia, Hypospadias, Abnormality of the kidney, E... |
OMIM:137920 |
| Joubert Syndrome 13 |
|
Molar tooth sign on MRI |
OMIM:614173 |
| Trichorhinophalangeal Syndrome, Type Iii |
|
Thin upper lip vermilion, Short metacarpal, Dental crowding, Avascular necrosis of the capital fe... |
OMIM:190351 |
| Anencephaly 1 |
|
Anencephaly, Spina bifida |
OMIM:206500 |
| Cholesteryl Ester Storage Disease |
|
Acute hepatic failure, Decreased HDL cholesterol concentration, Hepatic fibrosis, Elevated gamma-... |
OMIM:278000 |
| Pseudoachondroplasia |
|
Delayed epiphyseal ossification, Metaphyseal widening, Osteoarthritis, Increased laxity of ankles... |
ORPHA:750 |
| Hao-Fountain Syndrome |
|
Hallux valgus, Cryptorchidism, Large fontanelles, Low-set ears, Clinodactyly of the 5th finger, M... |
OMIM:616863 |
| Isolated Biliary Atresia |
|
Elevated hepatic transaminase, Hepatomegaly, Dark yellow urine, Conjugated hyperbilirubinemia, At... |
ORPHA:30391 |
| Cleidocranial Dysplasia |
|
Mandibular prognathia, Sinusitis, Micrognathia, High, narrow palate, Coxa vara, Glossoptosis, Hyp... |
ORPHA:1452 |
| Bardet-Biedl Syndrome 4 |
|
Syndactyly, Abnormality of the kidney, Cryptorchidism, Renal cyst, Polydactyly, Brachydactyly |
OMIM:615982 |
| Martinez-Frias Syndrome |
|
Intestinal hypoplasia, Hypoplasia of the gallbladder, Hypospadias, Intestinal malrotation, Jejuna... |
OMIM:601346 |
| Coach Syndrome 2 |
|
Elevated hepatic transaminase, Congenital hepatic fibrosis, Elevated circulating creatinine conce... |
OMIM:619111 |
| Leri-Weill Dyschondrosteosis |
|
Abnormal femoral neck morphology, Abnormal metatarsal morphology, Limited elbow movement, Abnorma... |
OMIM:127300 |
| Splenoportal Vascular Anomalies |
|
Diabetes mellitus, Anomalous splenoportal venous system, Splenomegaly, Hyperammonemia, Hepatic fi... |
OMIM:271500 |
| Hjv Or Hamp-Related Hemochromatosis |
|
Elevated hepatic transaminase, Diabetes mellitus, Congenital hepatic fibrosis, Increased circulat... |
ORPHA:79230 |
| Cleft-Limb-Heart Malformation Syndrome |
|
Syndactyly, Truncus arteriosus |
OMIM:215850 |
| Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome |
|
Ventricular septal defect, Bilateral single transverse palmar creases, Abnormal lung lobation, Ab... |
ORPHA:2516 |
| Ectrodactyly-Polydactyly |
|
Split hand, Postaxial hand polydactyly, Split foot |
OMIM:225290 |
| Bardet-Biedl Syndrome 14 |
|
Polydactyly |
OMIM:615991 |
| Renal Hypodysplasia/Aplasia 3 |
|
Renal dysplasia, Multicystic kidney dysplasia, Renal agenesis, Horseshoe kidney, Vesicoureteral r... |
OMIM:617805 |
| Choanal Atresia And Lymphedema |
|
Pericardial effusion, Lymphedema |
OMIM:613611 |
| Perlman Syndrome |
|
Hepatomegaly, Hypoplasia of penis, Posteriorly rotated ears, Micrognathia, Cryptorchidism, High, ... |
ORPHA:2849 |
| Immunodeficiency, Common Variable, 6 |
|
Hepatomegaly, Glomerulonephritis, Stage 5 chronic kidney disease, Mesangial Immune complex deposi... |
OMIM:613496 |
| Split-Foot Malformation With Mesoaxial Polydactyly |
|
1-2 toe syndactyly, Mesoaxial hand polydactyly, 4-5 toe syndactyly, Split hand, Split foot |
OMIM:616890 |
| Senior-Boichis Syndrome |
|
Thickening of the tubular basement membrane, Hepatic fibrosis, Malformation of the hepatic ductal... |
ORPHA:84081 |
| Glycogen Storage Disease Ia |
|
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Proteinuria, Short stature, Hyperlipid... |
OMIM:232200 |
| Glycogen Storage Disease Ib |
|
Elevated hepatic transaminase, Hepatomegaly, Pancreatic fibrosis, Hypoglycemia, Proteinuria, Shor... |
OMIM:232220 |
| Pancreatic Agenesis 1 |
|
Neonatal insulin-dependent diabetes mellitus, Reduced C-peptide level, Exocrine pancreatic insuff... |
OMIM:260370 |
| Plin1-Related Familial Partial Lipodystrophy |
|
Hypertriglyceridemia, Hyperinsulinemia, Polycystic ovaries, Insulin-resistant diabetes mellitus a... |
ORPHA:280356 |
| Split-Foot Malformation-Mesoaxial Polydactyly Syndrome |
|
Aplasia/Hypoplasia of the phalanges of the 3rd toe, Mesoaxial foot polydactyly, 1-2 toe syndactyl... |
ORPHA:488232 |
| Hydrocephaly-Low Insertion Umbilicus Syndrome |
|
Communicating hydrocephalus, Patent ductus arteriosus, Tetralogy of Fallot, Anomalous pulmonary v... |
ORPHA:2184 |
| Bile Acid Malabsorption, Primary, 2 |
|
Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine amino... |
OMIM:619481 |
| Bardet-Biedl Syndrome 13 |
|
Polydactyly |
OMIM:615990 |
| Meckel Syndrome |
|
Ureteral duplication, Micrognathia, Asplenia, Urethral atresia, Low-set, posteriorly rotated ears... |
ORPHA:564 |
| Senior-Loken Syndrome 9 |
|
Hypoplasia of the femoral head, Stage 5 chronic kidney disease, Cholestasis, Tubulointerstitial n... |
OMIM:616629 |
| Jawad Syndrome |
|
Hallux valgus, Single interphalangeal crease of fifth finger, Postaxial polydactyly, 4-5 toe synd... |
OMIM:251255 |
| Zimmermann-Laband Syndrome |
|
Hallux valgus, Hepatomegaly, Micrognathia, Splenomegaly, Sensorineural hearing impairment, Supern... |
ORPHA:3473 |
| Autoinflammatory-Pancytopenia Syndrome |
|
Membranoproliferative glomerulonephritis, Proteinuria, Hepatosplenomegaly, Growth delay, Cholesta... |
OMIM:619858 |
| Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction |
|
Pulmonary artery atresia, Ventricular septal defect, Left superior vena cava draining directly to... |
OMIM:613759 |
| Congenital Anomalies Of Kidney And Urinary Tract 3 |
|
Multicystic kidney dysplasia, Ectopic kidney, Renal hypoplasia, Vesicoureteral reflux, Hydronephr... |
OMIM:618270 |
| Orofaciodigital Syndrome Type 5 |
|
Crossed fused renal ectopia, Median cleft lip, Abnormality of the philtrum, Cleft soft palate, Ac... |
ORPHA:2919 |
| Otopalatodigital Syndrome, Type I |
|
Abnormality of the fifth metatarsal bone, Selective tooth agenesis, Absent frontal sinuses, Femor... |
OMIM:311300 |
| Rhyns Syndrome |
|
Multicystic kidney dysplasia, Abnormal acetabulum morphology, Hypoplastic ilia, Abnormal long bon... |
ORPHA:140976 |
| Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy |
|
Toe syndactyly, Bilateral single transverse palmar creases, Ventricular septal defect, Dextrocard... |
OMIM:619657 |
| Donohue Syndrome |
|
Postnatal growth retardation, Long penis, Hyperinsulinemia, Cholestasis, Ovarian cyst, Large hand... |
OMIM:246200 |
| Nephrosialidosis |
|
Pericardial effusion, Ascites |
OMIM:256150 |
| Spinocerebellar Ataxia, Autosomal Recessive 21 |
|
Hepatomegaly, Splenomegaly, Hepatic fibrosis, Talipes equinovarus, Hepatic failure, Hepatic bridg... |
OMIM:616719 |
| Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease |
|
Hepatomegaly, Congenital hip dislocation, Ulnar deviation of the 3rd finger, Diabetes mellitus, P... |
ORPHA:456312 |
| Alveolar Echinococcosis |
|
Abnormal pelvis bone morphology, Liver abscess, Cholangitis, Portal hypertension, Pancreatic cyst... |
ORPHA:284 |
| Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Ureteral duplication, Elevated circulating creatine kinase concentration, Cardiomegaly, High pala... |
OMIM:608836 |
| Kaposiform Lymphangiomatosis |
|
Abnormal ischium morphology, Abnormal pelvis bone morphology, Abnormal humerus morphology, Pancre... |
ORPHA:464329 |
| Peroxisome Biogenesis Disorder 3A (Zellweger) |
|
Epiphyseal stippling, Polycystic kidney dysplasia, Increased circulating very long-chain fatty ac... |
OMIM:614859 |
| Orofaciodigital Syndrome Xviii |
|
Sandal gap, Single transverse palmar crease, Urinary incontinence, Postaxial polydactyly, Preaxia... |
OMIM:617927 |
| Truncus Arteriosus |
|
Abnormal coronary artery morphology, Anomalous origin of one pulmonary artery from ascending aort... |
ORPHA:3384 |
| Structural Heart Defects And Renal Anomalies Syndrome |
|
Overlapping toe, Ventricular septal defect, Partial agenesis of the corpus callosum, Partial anom... |
OMIM:617478 |
| Senior-Loken Syndrome |
|
Short stature, Congenital hepatic fibrosis, Chronic kidney disease, Stage 5 chronic kidney diseas... |
ORPHA:3156 |
| Polycystic Liver Disease 1 With Or Without Kidney Cysts |
|
Elevated circulating alkaline phosphatase concentration, Polycystic liver disease, Renal cyst, In... |
OMIM:174050 |
| Permanent Neonatal Diabetes Mellitus-Pancreatic And Cerebellar Agenesis Syndrome |
|
Neonatal insulin-dependent diabetes mellitus, Aplasia/Hypoplasia of the pancreas |
ORPHA:65288 |
| Heart Defects-Limb Shortening Syndrome |
|
Atrial septal defect, Ventricular septal defect, Mesomelic/rhizomelic limb shortening, Abnormal t... |
ORPHA:1354 |
| Trichorhinophalangeal Syndrome Type 1 |
|
Short metacarpal, Camptodactyly of finger, Micrognathia, Avascular necrosis of the capital femora... |
ORPHA:77258 |
| Caroli Disease |
|
Liver abscess, Cholangitis, Conjugated hyperbilirubinemia, Hepatic fibrosis, Elevated gamma-gluta... |
ORPHA:53035 |
| Biemond Syndrome Ii |
|
Preaxial hand polydactyly, Hydrocephalus |
OMIM:210350 |
| Femoral-Facial Syndrome |
|
Short femur, Short stature, Maternal diabetes, Renal hypoplasia/aplasia, Cryptorchidism, Long pen... |
ORPHA:1988 |
| Craniosynostosis 2 |
|
Bicoronal synostosis, Cleft soft palate, Craniosynostosis, Supernumerary tooth, Metopic synostosi... |
OMIM:604757 |
| Primary Effusion Lymphoma |
|
Pericardial effusion, Pleural effusion |
ORPHA:48686 |
| Hanac Syndrome |
|
Hematuria, Renal insufficiency, Multiple renal cysts |
ORPHA:73229 |
| Short-Rib Thoracic Dysplasia 2 With Or Without Polydactyly |
|
Short metacarpal, Rhizomelia, Postaxial hand polydactyly, Broad palm, Short foot, Mesomelia, Brac... |
OMIM:611263 |
| Adams-Oliver Syndrome 6 |
|
Syndactyly, Portal hypertension, Splenomegaly, Esophageal varix, Renal hypoplasia, Foot oligodact... |
OMIM:616589 |
| Cranioectodermal Dysplasia |
|
Finger syndactyly, Brachydactyly, Rhizomelia, Abnormal dental enamel morphology, Craniosynostosis... |
ORPHA:1515 |
| Polydactyly, Postaxial, With Progressive Myopia |
|
Postaxial hand polydactyly |
OMIM:174310 |
| Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus |
|
Hepatomegaly, Epiphyseal dysplasia, Shortening of all middle phalanges of the fingers, Ivory epip... |
OMIM:226980 |
| Atrioventricular Septal Defect, Susceptibility To, 2 |
|
Pulmonary artery atresia, Atrioventricular canal defect, Right aortic arch with mirror image bran... |
OMIM:606217 |
| Multiple Epiphyseal Dysplasia, Lowry Type |
|
Epiphyseal dysplasia, Brachydactyly, Rhizomelia, Micrognathia, Cleft hard palate, Delayed epiphys... |
ORPHA:166016 |
| Meacham Syndrome |
|
Ventricular septal defect, Situs inversus totalis, Patent ductus arteriosus, Abnormal lung lobati... |
ORPHA:3097 |
| Aa Amyloidosis |
|
Hepatomegaly, Proteinuria, Abnormality of the kidney, Malabsorption, Chronic kidney disease, Chol... |
ORPHA:85445 |
| Trichorhinophalangeal Syndrome Type 2 |
|
Low-set, posteriorly rotated ears, Joint dislocation, Brachydactyly, Thin upper lip vermilion, Ab... |
ORPHA:502 |
| Glycogen Storage Disease Vi |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Postnatal growth... |
OMIM:232700 |
| Nevus Comedonicus Syndrome |
|
Finger syndactyly, Toe syndactyly, Spina bifida, Preaxial polydactyly, Spina bifida occulta |
ORPHA:64754 |
| Congenital Disorder Of Glycosylation, Type Ib |
|
Hepatomegaly, Villous atrophy, Renal cyst, Proximal tubulopathy, Hypoalbuminemia, Hepatic fibrosi... |
OMIM:602579 |
| Arthrogryposis, Distal, Type 1C |
|
Knee flexion contracture, High palate, Clinodactyly of the 5th finger, Camptodactyly of toe, Wris... |
OMIM:619110 |
| Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Hypoglycemia, Glutaric aciduria, Jaundice, Generalized aminoaciduria, Renal cortica... |
OMIM:231680 |
| Naegeli-Franceschetti-Jadassohn Syndrome |
|
Anhidrosis, Decreased number of sweat glands, Swelling of proximal interphalangeal joints, Interp... |
ORPHA:69087 |
| Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome |
|
Bowing of the long bones, Camptodactyly of finger, Elbow dislocation, Abnormal lung lobation, Mes... |
ORPHA:2631 |
| Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Short metacarpal, Micromelia, Osteoarthritis, Abnormal joint morphology, Abnormal carpal morpholo... |
ORPHA:93351 |
| Biemond Syndrome Type 2 |
|
Hydrocephalus, Preaxial polydactyly |
ORPHA:141333 |
| Multiple Epiphyseal Dysplasia, Al-Gazali Type |
|
Delayed epiphyseal ossification, Genu valgum, Cutaneous syndactyly, Molar tooth sign on MRI, Clin... |
ORPHA:166024 |
| Cleidocranial Dysplasia 2 |
|
Down-sloping shoulders, Aplastic clavicle, Hearing impairment, Coxa valga, Wide anterior fontanel... |
OMIM:620099 |
| Bardet-Biedl Syndrome 5 |
|
Syndactyly, Polydactyly, Brachydactyly |
OMIM:615983 |
| Tibia, Hypoplasia Or Aplasia Of, With Polydactyly |
|
Short tibia, Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication |
OMIM:188740 |
| Fadd-Related Immunodeficiency |
|
Hepatic fibrosis, Decreased liver function |
ORPHA:306550 |
| Congenital Bile Acid Synthesis Defect Type 2 |
|
Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Abnormal circulating enzyme co... |
ORPHA:79303 |
| Epiphyseal Dysplasia, Multiple, 5 |
|
Epiphyseal dysplasia, Short metacarpal, Premature osteoarthritis, Coxa vara, Genu valgum, Irregul... |
OMIM:607078 |
| Microphthalmia, Syndromic 12 |
|
Neonatal death, Hypoplastic left atrium, Ventricular septal defect, Pulmonary hypoplasia |
OMIM:615524 |
| Congenital Heart Defects, Multiple Types, 9 |
|
Mitral atresia, Aortopulmonary collateral arteries, Arteria lusoria, Double outlet right ventricl... |
OMIM:620294 |
| Léri-Weill Dyschondrosteosis |
|
Micromelia, Abnormal tibia morphology, Abnormal carpal morphology, Abnormal femur morphology, Tib... |
ORPHA:240 |
| Pancreatic Agenesis 2 |
|
Diabetes mellitus, Pancreatic aplasia, Steatorrhea, Pancreatic hypoplasia, Exocrine pancreatic in... |
OMIM:615935 |
| Joubert Syndrome 36 |
|
Molar tooth sign on MRI, Mesoaxial hand polydactyly |
OMIM:618763 |
| Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease |
|
Elevated hepatic transaminase, Glomerulopathy, Multicystic kidney dysplasia, Diabetes mellitus, H... |
ORPHA:93111 |
| 15Q11.2 Microdeletion Syndrome |
|
Ventricular septal defect, Abnormal heart morphology, Coarctation of aorta, Total anomalous pulmo... |
ORPHA:261183 |
| Acromesomelic Dysplasia, Hunter-Thompson Type |
|
Short metacarpal, Brachydactyly, Tarsal synostosis, Cuboidal metacarpal, Elbow dislocation, Short... |
ORPHA:968 |
| Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Scapular winging, Acute pancreatitis, Hypoglycemia, ... |
ORPHA:26791 |
| Platyspondylic Dysplasia, Torrance Type |
|
Bowing of the long bones, Hypoplastic scapulae, Micromelia, Abnormal carpal morphology, Hypoplasi... |
ORPHA:85166 |
| Feingold Syndrome |
|
Hallux valgus, Toe syndactyly, Micrognathia, External ear malformation, Abnormality of the spleen... |
ORPHA:1305 |
| Carnitine Palmitoyltransferase Ii Deficiency |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Elevated circulating acylcarnit... |
ORPHA:157 |
| Greig Cephalopolysyndactyly Syndrome |
|
Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Preaxial hand polydactyly, Hydrocephalus... |
ORPHA:380 |
| Caroli Syndrome |
|
Liver abscess, Cholangitis, Conjugated hyperbilirubinemia, Abnormal intrahepatic bile duct morpho... |
ORPHA:480520 |
| Adams-Oliver Syndrome 4 |
|
Ventricular septal defect, Short toe, Patent ductus arteriosus, Absent middle phalanx of the 3rd ... |
OMIM:615297 |
| Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1 |
|
Hepatic steatosis, Hepatomegaly, Ulnar deviation of the 3rd finger, Pancreatic fibrosis, Diabetes... |
OMIM:616263 |
| Lambert Syndrome |
|
Intrauterine growth retardation, Branchial anomaly, Ventricular septal defect |
ORPHA:1296 |
| Microphthalmia, Syndromic 9 |
|
Atrial septal defect, Ventricular septal defect, Agenesis of pulmonary vessels, Patent ductus art... |
OMIM:601186 |
| Peroxisome Biogenesis Disorder 6A (Zellweger) |
|
Epiphyseal stippling, Decreased liver function, Renal cyst, Hepatomegaly |
OMIM:614870 |
| Arthrogryposis, Distal, Type 1A |
|
Congenital hip dislocation, Single transverse palmar crease, Calcaneovalgus deformity, Knee flexi... |
OMIM:108120 |
| Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Hepatomegaly, Malformation of the hepatic ductal plate, Asplenia, Cholestasis, Femoral bowing, St... |
OMIM:615415 |
| Ventricular Septal Defect 3 |
|
Atrial septal defect, Pulmonary artery stenosis, Patent ductus arteriosus, Ventricular septal defect |
OMIM:614432 |
| Brachycephaly, Trichomegaly, And Developmental Delay |
|
Prominent fingertip pads, Single transverse palmar crease, Supernumerary tooth, Submucous cleft h... |
OMIM:617412 |
| Acromesomelic Dysplasia 2C |
|
Hypoplasia of the ulna, Shortening of all middle phalanges of the fingers, Radial bowing, Single ... |
OMIM:201250 |
| Tricho-Retino-Dento-Digital Syndrome |
|
Abnormality of the hand, Abnormality of the dentition, Supernumerary tooth, Oligodontia, Short 5t... |
ORPHA:1264 |
| Bardet-Biedl Syndrome 16 |
|
Renal insufficiency, Renal agenesis, Stage 5 chronic kidney disease, Renal cyst, Polydactyly, Ren... |
OMIM:615993 |
| Nephronophthisis 3 |
|
Renal insufficiency, Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary c... |
OMIM:604387 |
| Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Elevated circulating creatine kinase concentration, Cardiomegaly, High, narrow palate, Red-brown ... |
ORPHA:228308 |
| Von Hippel-Lindau Syndrome |
|
Neoplasm of the pancreas, Pancreatic cysts, Renal cell carcinoma, Hepatic hemangioma, Pheochromoc... |
OMIM:193300 |
| Hyperbiliverdinemia |
|
Elevated circulating biliverdin concentration, Cholestasis, Decreased liver function, Cholelithia... |
OMIM:614156 |
| Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome |
|
Broad hallux, Bifid distal phalanx of the thumb, Abnormal thumb morphology, Hydronephrosis, Parti... |
ORPHA:2669 |
| Short Stature-Wormian Bones-Dextrocardia Syndrome |
|
Delayed eruption of teeth, Abnormality of the philtrum, Camptodactyly of finger, Micrognathia, Cr... |
ORPHA:2863 |
| Joubert Syndrome 18 |
|
Trident pelvis, Bowing of the long bones, Postaxial polydactyly, Cleft palate, Renal cyst, Horses... |
OMIM:614815 |
| Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis |
|
Mandibular prognathia, Hip contracture, Microretrognathia, Coxa valga, Micrognathia, Carious teet... |
OMIM:618363 |
| Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy |
|
Duplicated collecting system, Hypoglycemia, Elevated circulating aspartate aminotransferase conce... |
OMIM:617093 |
| Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Short stature, Ketotic hypogly... |
ORPHA:79240 |
| Cayler Cardiofacial Syndrome |
|
Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect |
OMIM:125520 |
| Mesoaxial Hexadactyly And Cardiac Malformation |
|
Ventricular septal defect, Patent ductus arteriosus, Hand polydactyly, Pulmonic stenosis, Atrial ... |
OMIM:249670 |
| Coach Syndrome 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Unilateral renal agenesis, Sple... |
OMIM:216360 |
| Bardet-Biedl Syndrome |
|
Medial flaring of the eyebrow, Finger syndactyly, Hypoplasia of penis, Multicystic kidney dysplas... |
ORPHA:110 |
| Isolated Polycystic Liver Disease |
|
Hepatomegaly, Polycystic liver disease, Abnormality of the pancreas, Multiple renal cysts, Increa... |
ORPHA:2924 |
| Orofaciodigital Syndrome Xvii |
|
Prominent metopic ridge, Median cleft lip, Short middle phalanx of the 2nd finger, High, narrow p... |
OMIM:617926 |
| Verheij Syndrome |
|
Branchial cyst, Ventricular septal defect, Truncus arteriosus, Hip dislocation, Coloboma, Short 5... |
OMIM:615583 |
| Postaxial Oligodactyly, Tetramelic |
|
Radial bowing, Aplasia of the 5th metacarpal, Single transverse palmar crease, Absent fifth metat... |
OMIM:176240 |
| Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease |
|
Hepatomegaly, Renal insufficiency, Recurrent urinary tract infections, Elevated circulating alpha... |
OMIM:613095 |
| Acrocephalopolydactylous Dysplasia |
|
Hypoplastic colon, Hepatomegaly, Pancreatic fibrosis, Micromelia, Postaxial hand polydactyly, Hyp... |
OMIM:200995 |
| Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Elevated circulating creatine kinase concentration, Hepatic fibrosis, Fasting hypoglycemia, Hepat... |
ORPHA:264580 |
| Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies |
|
Long toe, Recurrent respiratory infections, Overlapping toe, Ventricular septal defect, Parachute... |
OMIM:618316 |
| Multiple Synostoses Syndrome 3 |
|
Broad hallux, Limited interphalangeal movement, Hallux varus, Humeroradial synostosis, Cleft pala... |
OMIM:612961 |
| Orofaciodigital Syndrome Iii |
|
Postaxial hand polydactyly, Supernumerary tooth, Tongue nodules, Postaxial foot polydactyly, Shor... |
OMIM:258850 |
| Acrofacial Dysostosis, Palagonia Type |
|
Finger syndactyly, Posteriorly rotated ears, Micrognathia, High, narrow palate, Supernumerary too... |
ORPHA:1787 |
| Cardiac Diverticulum |
|
Bicuspid aortic valve, Bicuspid pulmonary valve, Pulmonary artery hypoplasia, Atrial septal defec... |
ORPHA:1686 |
| Heart-Hand Syndrome Type 2 |
|
Aplasia/Hypoplasia of the thumb, Abnormal morphology of ulna, Micromelia, Abnormality of the dent... |
ORPHA:1350 |
| Combined Oxidative Phosphorylation Deficiency 8 |
|
Neonatal death, Hypertrophic cardiomyopathy, Pulmonary hypoplasia, Cardiomegaly |
OMIM:614096 |
| Pediatric Hepatocellular Carcinoma |
|
Hepatomegaly, Elevated circulating alpha-fetoprotein concentration, Portal vein thrombosis, Hepat... |
ORPHA:33402 |
| Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Splenomegaly, Hepatomegaly, Enlarged kidney |
OMIM:615285 |
| Pseudoachondroplasia |
|
Genu recurvatum, Delayed epiphyseal ossification, Metaphyseal widening, Osteoarthritis, Fragmente... |
OMIM:177170 |
| Diamond-Blackfan Anemia 20 |
|
Acetabular dysplasia, Total anomalous pulmonary venous return |
OMIM:618313 |
| 48,Xxyy Syndrome |
|
Delayed eruption of teeth, Broad jaw, Hypoplasia of penis, Abnormal dental enamel morphology, Elb... |
ORPHA:10 |
| Meckel Syndrome, Type 4 |
|
Bowing of the long bones, Postaxial hand polydactyly, Cleft palate, Renal cyst, Bile duct prolife... |
OMIM:611134 |
| Tyrosinemia, Type I |
|
Acute hepatic failure, Nephrocalcinosis, Paralytic ileus, Renal Fanconi syndrome, Hypophosphatemi... |
OMIM:276700 |
| Peroxisome Biogenesis Disorder 2A (Zellweger) |
|
Intrahepatic biliary dysgenesis, Hepatomegaly, Single transverse palmar crease, Metatarsus adduct... |
OMIM:214110 |
| Growth Delay-Intellectual Disability-Hepatopathy Syndrome |
|
Elevated hepatic transaminase, Duplicated collecting system, Diabetes mellitus, Cholestasis, Hepa... |
ORPHA:541423 |
| Cholestasis, Progressive Familial Intrahepatic, 6 |
|
Elevated hepatic transaminase, Conjugated hyperbilirubinemia, Intrahepatic cholestasis, Periporta... |
OMIM:619484 |
| White Forelock With Malformations |
|
Atrial septal defect, Prominent veins on trunk, Aplasia/Hypoplasia of the distal phalanges of the... |
OMIM:277740 |
| Joubert Syndrome 16 |
|
Encephalocele, Polydactyly, Molar tooth sign on MRI |
OMIM:614465 |
| Congenital Megacalycosis |
|
Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne... |
ORPHA:93109 |
| Pulmonary Hypoplasia, Primary |
|
Neonatal death, Pulmonary hypoplasia |
OMIM:265430 |
| 17Q12 Microdeletion Syndrome |
|
Elevated hepatic transaminase, Multicystic kidney dysplasia, Diabetes mellitus, Renal insufficien... |
ORPHA:261265 |
| Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome |
|
Finger syndactyly, Aplasia/hypoplasia of the humerus, Aplasia/Hypoplasia of the fibula, Abnormal ... |
ORPHA:2141 |
| Matthew-Wood Syndrome |
|
Cryptorchidism, Renal hypoplasia, Aplasia/Hypoplasia of the pancreas, Horseshoe kidney, Duodenal ... |
ORPHA:2470 |
| Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Short humerus, Dextrocardia, Proximal placement of thumb, Absent radius, Hydrocephalus, Hand poly... |
OMIM:314390 |
| Chromosome 1P36 Deletion Syndrome, Proximal |
|
Bicuspid aortic valve, Ventricular septal defect, Complete atrioventricular canal defect, Patent ... |
OMIM:619343 |
| Amelogenesis Imperfecta |
|
Abnormality of dental color, Hypomature dental enamel, Enamel hypomineralization, Hypoplasia of t... |
ORPHA:88661 |
| Aminopterin/Methotrexate Embryofetopathy |
|
Encephalocele, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Ventricular septal defect, Mic... |
ORPHA:1908 |
| Joubert Syndrome 40 |
|
Molar tooth sign on MRI, Postaxial polydactyly |
OMIM:619582 |
| Hyperinsulinemic Hypoglycemia, Familial, 7 |
|
Hypoglycemia, Hyperinsulinemia, Hypoglycemic seizures, Pancreatic islet-cell hyperplasia, Hyperin... |
OMIM:610021 |
| Gillessen-Kaesbach-Nishimura Syndrome |
|
Ulnar deviation of the hand, Frontotemporal hypertrichosis, Metaphyseal widening, Periportal fibr... |
OMIM:263210 |
| Phaver Syndrome |
|
Broad hallux phalanx, Ventricular septal defect, Camptodactyly of finger, Short thumb, Myelomenin... |
ORPHA:2876 |
| Florid Cemento-Osseous Dysplasia |
|
Jaw swelling, Mandibular osteomyelitis, Supernumerary tooth, Dental malocclusion, Oral ulcer, Abn... |
ORPHA:83451 |
| Interstitial Nephritis, Karyomegalic |
|
Elevated hepatic transaminase, Renal tubular cyst, Proteinuria, Elevated circulating creatinine c... |
OMIM:614817 |
| Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis |
|
Hepatomegaly, Alopecia, Sparse eyelashes, Thick hair, Portal hypertension, Sparse eyebrow, Spleno... |
OMIM:607626 |
| Nephrosis With Deafness And Urinary Tract And Digital Malformations |
|
Bifid distal phalanx of the thumb, Short distal phalanx of hallux, Partial duplication of the dis... |
OMIM:256200 |
| Nephronophthisis 15 |
|
Elevated hepatic transaminase, Polydactyly, Nephronophthisis |
OMIM:614845 |
| Robinow Syndrome, Autosomal Dominant 2 |
|
Dental crowding, Micrognathia, Oligodontia, Conductive hearing impairment, Micropenis, Calvarial ... |
OMIM:616331 |
| Acute Infantile Liver Failure-Cerebellar Ataxia-Peripheral Sensory Motor Neuropathy Syndrome |
|
Acute hepatic failure, Hepatic fibrosis, Talipes equinovarus, Hepatosplenomegaly |
ORPHA:466794 |
| Dubin-Johnson Syndrome |
|
Conjugated hyperbilirubinemia, Jaundice, Biliary tract abnormality |
OMIM:237500 |
| Myelopathy, Htlv-1-Associated |
|
Myelopathy |
OMIM:159580 |
| Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Metaphyseal widening, Preaxial polydactyly, Femoral bowing, Micropenis, Hypoplasia of the ulna, H... |
OMIM:613091 |
| Rothmund-Thomson Syndrome, Type 2 |
|
Mandibular prognathia, Congenital hip dislocation, Micrognathia, Anteriorly placed anus, High pal... |
OMIM:268400 |
| Distal Deletion 12Q |
|
Single transverse palmar crease, Micrognathia, Ectopic kidney, High, narrow palate, Biliary atres... |
ORPHA:96149 |
| Infantile Liver Failure Syndrome 3 |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Abnormal acetabulum morpholog... |
OMIM:618641 |
| Total Anomalous Pulmonary Venous Return 1 |
|
Recurrent respiratory infections, Total anomalous pulmonary venous return, Dextrocardia |
OMIM:106700 |
| 49,Xyyyy Syndrome |
|
Low-set, posteriorly rotated ears, Decreased testicular size, Abnormality of the epiphyses of the... |
ORPHA:99330 |
| Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Decreased response to growth hormone stimulation test, Cardiomegaly, Joint contracture of the 5th... |
OMIM:602782 |
| Renal Tubular Dysgenesis |
|
Tetralogy of Fallot, Pulmonary hypoplasia, Bilateral single transverse palmar creases |
ORPHA:3033 |
| Symphalangism, Distal, With Microdontia, Dental Pulp Stones, And Narrowed Zygomatic Arch |
|
Aplasia/Hypoplasia of the middle phalanges of the hand, Absent trapezium, Pulp calcification, Con... |
OMIM:606895 |
| Thanatophoric Dysplasia |
|
Atrial septal defect, Micromelia, Abnormal sacroiliac joint morphology, Patent ductus arteriosus,... |
ORPHA:2655 |
| Distal 7Q11.23 Microdeletion Syndrome |
|
Atrial septal defect, Patent ductus arteriosus |
ORPHA:254351 |
| Mpi-Cdg |
|
Hepatomegaly, Portal hypertension, Hepatic fibrosis, Decreased liver function, Hypoalbuminemia, H... |
ORPHA:79319 |
| Mirizzi Syndrome |
|
Elevated hepatic transaminase, Dark urine, Pancreatitis, Jaundice, Elevated circulating alkaline ... |
ORPHA:521219 |
| Acrocardiofacial Syndrome |
|
Hallux valgus, Finger syndactyly, Toe syndactyly, Mitral stenosis, Camptodactyly of finger, Ventr... |
ORPHA:2008 |
| Orofaciodigital Syndrome Type 10 |
|
Micrognathia, Preaxial polydactyly, Short 4th finger, Short tibia, Radial deviation of the hand, ... |
ORPHA:2756 |
| Bardet-Biedl Syndrome 7 |
|
Clinodactyly, Polydactyly, 2-3 toe syndactyly, Postaxial polydactyly |
OMIM:615984 |
| Frontonasal Dysplasia 1 |
|
Postaxial hand polydactyly, Anterior basal encephalocele, Tetralogy of Fallot, Pectoral muscle hy... |
OMIM:136760 |
| Odontochondrodysplasia 1 |
|
Short metacarpal, Brachydactyly, Short stature, Micromelia, Metaphyseal widening, Flat acetabular... |
OMIM:184260 |
| Cleidocranial Dysplasia 1 |
|
Persistent open anterior fontanelle, Micrognathia, Short middle phalanx of the 2nd finger, Absent... |
OMIM:119600 |
| Ventricular Septal Defect 1 |
|
Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Atrioventricular canal defect... |
OMIM:614429 |
| Ellis-Van Creveld Syndrome |
|
Capitate-hamate fusion, Postaxial hand polydactyly, Common atrium, Genu valgum, Postaxial foot po... |
OMIM:225500 |
| Mohr Syndrome |
|
Micrognathia, Hypoplasia of the maxilla, Lobulated tongue, High palate, Short palm, Clinodactyly ... |
OMIM:252100 |
| Cat Eye Syndrome |
|
Ventricular septal defect, Absent radius, Patent ductus arteriosus, Hypoplastic left heart, Total... |
OMIM:115470 |
| Atelosteogenesis Type I |
|
Joint dislocation, Short femur, Rhizomelia, Micrognathia, Malrotation of colon, Abnormal ossifica... |
ORPHA:1190 |
| Combined Oxidative Phosphorylation Deficiency 52 |
|
Renal insufficiency, Hypoglycemia, Elevated circulating aspartate aminotransferase concentration,... |
OMIM:619386 |
| Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta |
|
Recurrent respiratory infections, Ventricular septal defect, Patent ductus arteriosus, Arteria lu... |
ORPHA:99050 |
| Spondylometaphyseal Dysplasia, Schmidt Type |
|
Metaphyseal dysplasia, Abnormality of the knee, Irregular iliac crest, Abnormality of the epiphys... |
ORPHA:93316 |
| Coloboma Of Macula With Type B Brachydactyly |
|
Type B brachydactyly, Bifid distal phalanx of the thumb, Coloboma, Absent distal phalanges, Broad... |
OMIM:120400 |
| Cholestasis, Progressive Familial Intrahepatic, 12 |
|
Hepatomegaly, Proteinuria, Elevated circulating aspartate aminotransferase concentration, Conjuga... |
OMIM:620010 |
| Winchester Syndrome |
|
Arthropathy, Gingival overgrowth, Osteolysis involving tarsal bones, Carpal osteolysis, Broad met... |
OMIM:277950 |
| Joubert Syndrome 20 |
|
Molar tooth sign on MRI, 4-5 toe syndactyly, Postaxial polydactyly |
OMIM:614970 |
| Ulnar Hemimelia |
|
Glenoid fossa hypoplasia, Limited elbow movement, Osteoarthritis, Abnormal calcification of the c... |
ORPHA:93320 |
| Osebold-Remondini Syndrome |
|
Dysplastic distal radial epiphyses, Broad toe, Decreased finger mobility, Hypoplasia of the ulna,... |
OMIM:112910 |
| Autosomal Recessive Robinow Syndrome |
|
Hypoplasia of penis, Tented upper lip vermilion, Micrognathia, Orofacial cleft, Downturned corner... |
ORPHA:1507 |
| Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease |
|
Renal insufficiency, Stage 5 chronic kidney disease, Polycystic kidney dysplasia, Decreased glome... |
OMIM:618061 |
| Porphyria Cutanea Tarda |
|
Elevated hepatic transaminase, Viral hepatitis, Decreased circulating hepcidin concentration, Dia... |
ORPHA:101330 |
| Oligodontia |
|
Orofacial cleft, Oligodontia, Agenesis of mandibular premolar, Widely spaced teeth, Microdontia, ... |
ORPHA:99798 |
| Meckel Syndrome, Type 11 |
|
Occipital encephalocele, Polydactyly |
OMIM:615397 |
| Fanconi Anemia, Complementation Group O |
|
Proximal placement of thumb, Absent thumb, Short thumb, Cryptorchidism, Hypoplasia of the radius,... |
OMIM:613390 |
| Hadziselimovic Syndrome |
|
Ventricular hypertrophy, Ventricular septal defect, Atrial septal defect, Tetralogy of Fallot, Pu... |
OMIM:612946 |
| Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15 |
|
Dental crowding, Delayed closure of the anterior fontanelle, Upper limb asymmetry, Protruding ear... |
ORPHA:231140 |
| Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Pancreatic fibrosis, Intestinal malrotation, Hamartoma of tongue, Preaxial hand polydactyly, Post... |
OMIM:263520 |
| Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome |
|
Elevated circulating growth hormone concentration, Enlarged polycystic ovaries, Insulin resistanc... |
ORPHA:90301 |
| Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome |
|
Crossed fused renal ectopia, Overlapping toe, Unilateral renal agenesis, Postaxial polydactyly, P... |
OMIM:618142 |
| Mesomelic Limb Shortening And Bowing |
|
Camptodactyly of finger, Bowing of the legs, Micrognathia, Mesomelic arm shortening, Cleft palate... |
OMIM:249710 |
| Rapp-Hodgkin Syndrome |
|
Conical tooth, Hypoplasia of the maxilla, 2-3 toe cutaneous syndactyly, Microdontia, Bifid uvula,... |
OMIM:129400 |
| Microbrachycephaly-Ptosis-Cleft Lip Syndrome |
|
Mandibular prognathia, Brachydactyly, Abnormal thumb morphology, Hearing abnormality, Abnormal me... |
ORPHA:2511 |
| Microphthalmia, Isolated 4 |
|
Postaxial polydactyly |
OMIM:613094 |
| Interstitial Lung And Liver Disease |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... |
OMIM:615486 |
| 3-Methylglutaconic Aciduria Type 1 |
|
Hepatomegaly, 3-Methylglutaconic aciduria, Hypoglycemia |
ORPHA:67046 |
| Chondrodysplasia With Joint Dislocations, Gpapp Type |
|
Micrognathia, Knee dislocation, Irregular epiphyses of the metacarpals, Short metacarpal, Hitchhi... |
OMIM:614078 |
| Citrullinemia Type Ii |
|
Elevated hepatic transaminase, Hepatomegaly, Decreased HDL cholesterol concentration, Hypertrigly... |
ORPHA:247585 |
| Abruzzo-Erickson Syndrome |
|
Toe syndactyly, Short toe, Ulnar deviation of finger, Coloboma, Radioulnar synostosis, Chorioreti... |
ORPHA:921 |
| Chromosome 22Q11.2 Deletion Syndrome, Distal |
|
Truncus arteriosus |
OMIM:611867 |
| Joubert Syndrome 15 |
|
Preaxial polydactyly, Exencephaly |
OMIM:614464 |
| Wt Limb-Blood Syndrome |
|
Ulnar deviation of the 3rd finger, Absent thumb, Micrognathia, Cryptorchidism, Sensorineural hear... |
OMIM:194350 |
| Arthrogryposis, Distal, Type 2B1 |
|
Mandibular prognathia, Ulnar deviation of the wrist, Rocker bottom foot, Camptodactyly of finger,... |
OMIM:601680 |
| Spinal Muscular Atrophy, Type I |
|
Atrial septal defect, Recurrent respiratory infections, Ventricular septal defect |
OMIM:253300 |
| Down Syndrome |
|
Atrial septal defect, Sandal gap, Single transverse palmar crease, Ventricular septal defect, Hyp... |
OMIM:190685 |
| Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Nonketotic hypoglycemia, Hepatomegaly, Necrotizing enterocolitis, Dicarboxylic aciduria, Elevated... |
OMIM:201475 |
| Carpenter Syndrome |
|
Finger syndactyly, Syndactyly, Toe syndactyly, Craniosynostosis, Cryptorchidism, Postaxial hand p... |
ORPHA:65759 |
| Lymphatic Malformation 7 |
|
Nonimmune hydrops fetalis, Edema, Lymphedema, Facial edema, Pericardial effusion, Increased nucha... |
OMIM:617300 |
| Dentin Dysplasia, Type I |
|
Pulp obliteration, Periapical bone loss, Oligodontia, Taurodontia, Short dental root, Microdontia... |
OMIM:125400 |
| Autosomal Recessive Spondylocostal Dysostosis |
|
Finger syndactyly, Camptodactyly of finger, Meningocele, Anomalous pulmonary venous return, Umbil... |
ORPHA:2311 |
| Joubert Syndrome 17 |
|
Molar tooth sign on MRI, Preaxial polydactyly, Postaxial polydactyly, 3-4 finger syndactyly |
OMIM:614615 |
| Epiphyseal Dysplasia, Multiple, 7 |
|
Epiphyseal dysplasia, Monkey wrench femoral neck, Advanced ossification of carpal bones, Flat ace... |
OMIM:617719 |
| Meckel Syndrome, Type 8 |
|
Cleft palate, Polydactyly, Talipes equinovarus, Polycystic kidney dysplasia, Hyperechogenic kidne... |
OMIM:613885 |
| Congenital Tracheomalacia |
|
Ventricular septal defect, Pneumonia, Cardiomegaly, Patent ductus arteriosus, Partial anomalous p... |
ORPHA:95430 |
| Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Conjugated hyperbili... |
OMIM:619868 |
| Orofaciodigital Syndrome Type 2 |
|
Micrognathia, Complete duplication of hallux phalanx, Protruding ear, Finger clinodactyly, High p... |
ORPHA:2751 |
| Meckel Syndrome, Type 10 |
|
Ulnar deviation of the hand, Hypospadias, Malformation of the hepatic ductal plate, Postaxial pol... |
OMIM:614175 |
| Say Syndrome |
|
Ulnar deviation of the 3rd finger, Tapered finger, Proximal renal tubular acidosis, Cleft palate,... |
OMIM:181180 |
| Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly |
|
Stage 5 chronic kidney disease, Short long bone, Polydactyly, Hepatic cysts, Brachydactyly |
OMIM:613819 |
| Distal Deletion 17Q |
|
Low-set, posteriorly rotated ears, Hepatomegaly, Aplasia/Hypoplasia of the thumb, Prominent metop... |
ORPHA:1597 |
| Heterotaxy, Visceral, 5, Autosomal |
|
Bilateral trilobed lung, Right atrial isomerism, Ventricular septal defect, Dextrocardia, Patent ... |
OMIM:270100 |
| Pulmonary Venoocclusive Disease 1, Autosomal Dominant |
|
Pulmonary venous occlusion, Interlobular septal thickening |
OMIM:265450 |
| Otopalatodigital Syndrome Type 1 |
|
Bowing of the long bones, Sandal gap, Short hallux, Proximal placement of thumb, Hearing impairme... |
ORPHA:90650 |
| Pancreatic And Cerebellar Agenesis |
|
Diabetes mellitus, Hypoglycemia, Severe intrauterine growth retardation, Overlapping fingers, Hyp... |
OMIM:609069 |
| Dextrocardia |
|
Meckel diverticulum, Congenital hip dislocation, Intestinal malrotation, Abnormality of the splee... |
ORPHA:1666 |
| Osteogenesis Imperfecta, Type Vii |
|
Crumpled long bones, Rhizomelia, Protrusio acetabuli, Femoral retroversion, Micromelia, Bowing of... |
OMIM:610682 |
| Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease |
|
Polycystic kidney dysplasia, Decreased liver function, Hepatic cysts |
OMIM:600666 |
| Larsen Syndrome |
|
Finger syndactyly, Brachydactyly, Large joint dislocations, Craniosynostosis, Cryptorchidism, Acc... |
ORPHA:503 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 3 |
|
Hepatomegaly, Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, Elevat... |
OMIM:615158 |
| Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease |
|
Colonic diverticula, Renal insufficiency, Polycystic kidney dysplasia, Hepatic cysts |
OMIM:173900 |
| Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Hypoplastic pubic ramus, Proximal placement of thumb, Short metatarsal, Hand monodactyly, Patella... |
OMIM:609945 |
| Isolated Permanent Neonatal Diabetes Mellitus |
|
Ketonuria, Neonatal insulin-dependent diabetes mellitus, Abnormality of the upper urinary tract, ... |
ORPHA:99885 |
| Orofaciodigital Syndrome Xix |
|
Downturned corners of mouth, Lobulated tongue, High palate, Microdontia, Broad hallux, Underfolde... |
OMIM:620107 |
| Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities |
|
Unilateral wrist flexion contracture, Femoral retroversion, Pulmonary hypoplasia, Talipes equinov... |
OMIM:616531 |
| Hypertelorism And Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Mental Retardation, And Recurrent Inflammatory Episodes |
|
Thin upper lip vermilion, Abnormal pinna morphology, Perianal abscess, Cryptorchidism, Clinodacty... |
OMIM:614684 |
| Pentalogy Of Cantrell |
|
Encephalocele, Ventricular septal defect, Abnormal pericardium morphology, Abnormal tibia morphol... |
ORPHA:1335 |
| Polysyndactyly With Cardiac Malformation |
|
Syndactyly, Preaxial hand polydactyly, Duplication of phalanx of hallux, Renal cyst, Hepatic cysts |
OMIM:263630 |
| Double Outlet Right Ventricle |
|
Ventricular septal defect, Double outlet right ventricle, Coarctation of aorta, Hypoplastic left ... |
ORPHA:3426 |
| Lethal Congenital Contracture Syndrome 11 |
|
Elbow flexion contracture, Bilateral talipes equinovarus, Pulmonary hypoplasia, Camptodactyly, Fl... |
OMIM:617194 |
| Stankiewicz-Isidor Syndrome |
|
Ventricular septal defect, Absent thumb, Short thumb, Patent ductus arteriosus, 2-3 toe syndactyl... |
OMIM:617516 |
| Otodental Syndrome |
|
High-frequency sensorineural hearing impairment, Delayed eruption of teeth, Abnormal dental ename... |
ORPHA:2791 |
| Czeizel-Losonci Syndrome |
|
Hitchhiker thumb, Single transverse palmar crease, Dextrocardia, Spina bifida, Myelomeningocele, ... |
ORPHA:2437 |
| Spinal Muscular Atrophy With Congenital Bone Fractures 2 |
|
Patent ductus arteriosus, Patent foramen ovale, Pulmonary hypoplasia |
OMIM:616867 |
| Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects |
|
Ventricular septal defect, Secundum atrial septal defect, Subvalvular aortic stenosis, Left ventr... |
OMIM:108900 |
| Von Hippel-Lindau Disease |
|
Neoplasm of the pancreas, Elevated urinary catecholamine level, Pancreatic islet cell adenoma, Pa... |
ORPHA:892 |
| Short-Rib Thoracic Dysplasia 18 With Polydactyly |
|
Radial bowing, Single transverse palmar crease, Intestinal malrotation, Micromelia, Postaxial pol... |
OMIM:617866 |
| Congenital Disorder Of Glycosylation, Type Il |
|
Hepatomegaly, Hip dislocation, Polycystic kidney dysplasia, Hepatosplenomegaly |
OMIM:608776 |
| 16P13.11 Microduplication Syndrome |
|
Ventricular septal defect, Arachnodactyly, Coarctation of aorta, Hand polydactyly, Transposition ... |
ORPHA:261243 |
| Postaxial Tetramelic Oligodactyly |
|
Abnormal finger morphology, Ectrodactyly, Oligodactyly, Abnormal metacarpal morphology |
ORPHA:2730 |
| Atelosteogenesis, Type Ii |
|
Sandal gap, Micromelia, Bifid humerus, Flat acetabular roof, Short greater sciatic notch, Abnorma... |
OMIM:256050 |
| Trichohepatoenteric Syndrome 1 |
|
Villous atrophy, Brittle hair, Hepatic fibrosis, Hypoalbuminemia, Sparse hair, Intrauterine growt... |
OMIM:222470 |
| Ritscher-Schinzel Syndrome 1 |
|
Syndactyly, Ventricular septal defect, Hydrocephalus, Double outlet right ventricle, Coloboma, Hy... |
OMIM:220210 |
| Leukodystrophy, Hypomyelinating, 26, With Chondrodysplasia |
|
Coxa valga, Elbow dislocation, Pierre-Robin sequence, Advanced ossification of carpal bones, Clef... |
OMIM:620269 |
| Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial |
|
Hypoglycemia, Renal steatosis, Impaired gluconeogenesis, Hepatic failure, Hepatic steatosis |
OMIM:261650 |
| Ulnar/Fibula Ray Defect-Brachydactyly Syndrome |
|
Brachydactyly, Aplasia/Hypoplasia of the fibula, Short foot, Aplasia/Hypoplasia of the ulna, Shor... |
ORPHA:52056 |
| Holzgreve Syndrome |
|
Hand polydactyly, Renal agenesis, Renal hypoplasia, Cleft palate |
OMIM:236110 |
| Mucopolysaccharidosis-Plus Syndrome |
|
Metaphyseal widening, Synophrys, Low anterior hairline, Coarse hair, Hypoalbuminemia, Macrovesicu... |
OMIM:617303 |
| Hepatoportal Sclerosis |
|
Elevated hepatic transaminase, Portal hypertension, Nodular regenerative hyperplasia of liver, Po... |
ORPHA:64743 |
| Mitochondrial Complex I Deficiency, Nuclear Type 35 |
|
Neonatal death, Cardiomyopathy, Pulmonary hypoplasia |
OMIM:619003 |
| Cleft Palate, Deafness, And Oligodontia |
|
Oligodontia of primary teeth, Sandal gap, Cleft soft palate, Short hallux, No permanent dentition... |
OMIM:216300 |
| Seckel Syndrome 7 |
|
Abnormal carpal morphology, Madelung deformity, Central hypothyroidism, Hip dysplasia, Microtia, ... |
OMIM:614851 |
| Congenital Disorder Of Glycosylation, Type Iip |
|
Elevated hepatic transaminase, Decreased circulating ceruloplasmin concentration, Increased LDL c... |
OMIM:616829 |
| Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Hypoglycemic seizures, Nephrocalcinosis, Inflammation of the large intestine, Hypothyroidism, Hep... |
ORPHA:79259 |
| Joubert Syndrome 7 |
|
Encephalocele, Brainstem dysplasia, Postaxial polydactyly, Postaxial hand polydactyly, Genu valgu... |
OMIM:611560 |
| Congenital Tricuspid Valve Dysplasia |
|
Cardiomegaly, Pericardial effusion, Anomalous pulmonary venous return, Abnormal tricuspid valve a... |
ORPHA:555874 |
| Pulmonary Venoocclusive Disease 2, Autosomal Recessive |
|
Pulmonary capillary hemangiomatosis, Pulmonary venous occlusion |
OMIM:234810 |
| Diaphanospondylodysostosis |
|
Nephrogenic rest, Nephroblastomatosis, Disproportionate short-trunk short stature, Horseshoe kidn... |
OMIM:608022 |
| Lambert Syndrome |
|
Jaundice, Intrahepatic biliary atresia, Hypospadias, Talipes equinovarus |
OMIM:245550 |
| Deafness, Congenital Heart Defects, And Posterior Embryotoxon |
|
Tetralogy of Fallot, Ventricular septal defect, Peripheral pulmonary artery stenosis |
OMIM:617992 |
| Crigler-Najjar Syndrome Type 1 |
|
Biliary tract abnormality, Abnormality of the liver, Unconjugated hyperbilirubinemia, Prolonged n... |
ORPHA:79234 |
| Monosomy 13Q34 |
|
Postaxial hand polydactyly, Postaxial foot polydactyly, Pulmonic stenosis, Common atrium, Agenesi... |
ORPHA:96168 |
| Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2 |
|
Congenital hip dislocation, Long distal phalanx of finger, Slender proximal phalanx of finger, Di... |
OMIM:603546 |
| Otodental Dysplasia |
|
Delayed eruption of teeth, Agenesis of premolar, Sensorineural hearing impairment, Tooth ankylosi... |
OMIM:166750 |
| Emanuel Syndrome |
|
Recurrent respiratory infections, Congenital hip dislocation, Truncus arteriosus, Ventricular sep... |
OMIM:609029 |
| Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome |
|
Joint dislocation, Camptodactyly of finger, Aplasia/Hypoplasia of the distal phalanges of the toe... |
ORPHA:3201 |
| Microphthalmia, Isolated, With Coloboma 4 |
|
Coloboma |
OMIM:251505 |
| Orofaciodigital Syndrome Xv |
|
Molar tooth sign on MRI, Postaxial hand polydactyly, Broad hallux, Duplication of phalanx of hallux |
OMIM:617127 |
| Combined Oxidative Phosphorylation Deficiency 37 |
|
Elevated hepatic transaminase, Hypoglycemia, 3-Methylglutaconic aciduria, Bile duct proliferation... |
OMIM:618329 |
| Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome |
|
Elevated hepatic transaminase, Granulomatous cholangitis, Cholestasis, Ulcerative colitis, Abnorm... |
ORPHA:562639 |
| Ritscher-Schinzel Syndrome 2 |
|
Syndactyly, Atrial septal defect, Broad hallux, Overlapping toe, Camptodactyly of finger, Ventric... |
OMIM:300963 |
| Joubert Syndrome 6 |
|
Bile duct proliferation, Hepatic fibrosis, Stage 5 chronic kidney disease, Nephronophthisis |
OMIM:610688 |
| Arima Syndrome |
|
Hepatomegaly, Proteinuria, Polyuria, Postaxial hand polydactyly, Esophageal varix, Stage 5 chroni... |
OMIM:243910 |
| 48,Xxxy Syndrome |
|
Mandibular prognathia, Delayed eruption of teeth, Hypoplasia of penis, Down-sloping shoulders, Ab... |
ORPHA:96263 |
| Hydrops Fetalis |
|
Nonimmune hydrops fetalis, Polyhydramnios, Lymphedema, Pericardial effusion, Abnormal heart morph... |
ORPHA:1041 |
| Brachydactyly, Type B1 |
|
Type B brachydactyly, Syndactyly, Vertebral fusion, Aplasia/Hypoplasia of the distal phalanges of... |
OMIM:113000 |
| Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Portal hypertension, Elevated circulat... |
OMIM:251880 |
| Cardiac-Urogenital Syndrome |
|
Cor triatrium sinister, Ventricular septal defect, Dextrocardia, Coronary sinus enlargement, Peri... |
OMIM:618280 |
| Mesomelia-Synostoses Syndrome |
|
Micromelia, Micrognathia, High, narrow palate, Abnormal tibia morphology, Abnormal femur morpholo... |
ORPHA:2496 |
| Nance-Horan Syndrome |
|
Mandibular prognathia, Short metacarpal, Abnormality of the dentition, Supernumerary tooth, Protr... |
ORPHA:627 |
| Axial Osteomalacia |
|
Polycystic liver disease, Elevated circulating creatine kinase concentration, Renal cyst |
OMIM:109130 |
| Absence Of The Pulmonary Artery |
|
Recurrent respiratory infections, Abnormal coronary artery morphology, Cardiomegaly, Patent ductu... |
ORPHA:980 |
| Extracranial Carotid Artery Aneurysm |
|
Subarachnoid hemorrhage, Vasculitis, Arteriosclerosis, Stroke, Total anomalous pulmonary venous r... |
ORPHA:494424 |
| Acromesomelic Dysplasia 2B |
|
Short metacarpal, Brachydactyly, Rhizomelia, Deformed tarsal bones, Short metatarsal, Fibular hyp... |
OMIM:228900 |
| Osteootohepatoenteric Syndrome |
|
Ileoileal intussusception, Villous atrophy, Proteinuria, Avascular necrosis of the capital femora... |
OMIM:619377 |
| Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4B |
|
Neonatal death, Pulmonary hypoplasia |
OMIM:615228 |
| Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Bicuspid aortic valve, Parachute mitral valve, Abnormal lung lobation, Atrial septal defect, Neon... |
OMIM:265380 |
| Eng-Strom Syndrome |
|
Abnormal cardiac septum morphology, Ventricular septal defect, Camptodactyly of finger, Brachydac... |
ORPHA:1937 |
| Greig Cephalopolysyndactyly Syndrome |
|
Broad hallux phalanx, Broad hallux, Hypospadias, 1-3 toe syndactyly, Craniosynostosis, Cryptorchi... |
OMIM:175700 |
| Pericardial And Diaphragmatic Defect |
|
Bicuspid aortic valve, Patent ductus arteriosus, Abnormal heart morphology, Pulmonary hypoplasia,... |
ORPHA:2847 |
| Aceruloplasminemia |
|
Diabetes mellitus, Decreased circulating ceruloplasmin concentration, Decreased circulating coppe... |
ORPHA:48818 |
| Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Bicuspid aortic valve, Coloboma, Short palm, Clinodactyly of the 5th finger, Atrioventricular can... |
ORPHA:508498 |
| Bardet-Biedl Syndrome 19 |
|
Ventricular septal defect, Mesoaxial hand polydactyly, Postaxial polydactyly, Partial atrioventri... |
OMIM:615996 |
| Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Hypoglycemia |
OMIM:609016 |
| Catel-Manzke Syndrome |
|
Atrial septal defect, Ventricular septal defect, Camptodactyly of finger, Metatarsus valgus, Radi... |
ORPHA:1388 |
| Bardet-Biedl Syndrome 1 |
|
High, narrow palate, Hepatic fibrosis, High palate, Micropenis, Syndactyly, Abnormality of the ki... |
OMIM:209900 |
| Protoporphyria, Erythropoietic, X-Linked |
|
Elevated hepatic transaminase, Cholelithiasis, Increased erythrocyte protoporphyrin concentration |
OMIM:300752 |
| Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones |
|
Hypoplasia of the maxilla, Sensorineural hearing impairment, Genu valgum, Slender long bones with... |
OMIM:608154 |
| Acromicric Dysplasia |
|
Short metacarpal, Narrow mouth, Deep philtrum, Thick lower lip vermilion, Cone-shaped epiphysis, ... |
OMIM:102370 |
| Aicardi-Goutieres Syndrome 9 |
|
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Renal insufficiency, Recurrent u... |
OMIM:619487 |
| Joubert Syndrome 9 |
|
Hepatic fibrosis, Stage 5 chronic kidney disease |
OMIM:612285 |
| Talo-Patello-Scaphoid Osteolysis |
|
Osteolysis of talus, Enlarged joints, Osteolysis of scaphoids, Synovitis, Short 4th metacarpal, O... |
ORPHA:50809 |
| Coffin-Siris Syndrome 11 |
|
Prominent metopic ridge, Cleft soft palate, Uplifted earlobe, Esophageal atresia, Small hand, Dow... |
OMIM:618779 |
| Global Developmental Delay With Or Without Impaired Intellectual Development |
|
Ventricular septal defect, Patent ductus arteriosus, Lateral ventricle dilatation, Pulmonary sequ... |
OMIM:618330 |
| Pancreatic Agenesis-Holoprosencephaly Syndrome |
|
Absent gallbladder, Aplasia/Hypoplasia of the phalanges of the thumb, Abnormal pinna morphology, ... |
ORPHA:556955 |
| Congenital Disorder Of Glycosylation, Type Iio |
|
Elevated hepatic transaminase, Hepatomegaly, Decreased circulating ceruloplasmin concentration, E... |
OMIM:616828 |
| Cranioectodermal Dysplasia 4 |
|
Sagittal craniosynostosis, Stage 5 chronic kidney disease, Protruding ear, Hip dysplasia, Cutaneo... |
OMIM:614378 |
| Larsen-Like Syndrome |
|
Joint dislocation, Wide anterior fontanel, Dental malocclusion, Cleft palate, Recurrent otitis me... |
OMIM:608545 |
| Tarsal-Carpal Coalition Syndrome |
|
Tarsal synostosis, Hearing abnormality, Humeroradial synostosis, Progressive fusion 2nd-5th pip j... |
OMIM:186570 |
| Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly |
|
Hydranencephaly, Single transverse palmar crease, 2-3 toe syndactyly, Cutaneous syndactyly, Still... |
OMIM:236500 |
| Leprechaunism |
|
Rectal prolapse, Nephrocalcinosis, Recurrent infantile hypoglycemia, Increased circulating renin ... |
ORPHA:508 |
| Mosaic Trisomy 1 |
|
Single transverse palmar crease, Finger clinodactyly, Pulmonary artery atresia, Absent distal int... |
ORPHA:1692 |
| Neurooculocardiogenitourinary Syndrome |
|
Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Abnormality of the palmar crea... |
OMIM:618652 |
| Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome |
|
Patent ductus arteriosus, Coarctation of aorta, Bilateral lung agenesis, Abnormal cardiac septum ... |
OMIM:601612 |
| Joubert Syndrome 10 |
|
Molar tooth sign on MRI, Postaxial polydactyly |
OMIM:300804 |
| Nephronophthisis 11 |
|
Tubular basement membrane disintegration, Polyuria, Stage 5 chronic kidney disease, Renal cortico... |
OMIM:613550 |
| Brachydactyly-Syndactyly Syndrome |
|
Syndactyly, Finger syndactyly, Camptodactyly, Short phalanx of finger, Short digit, Oligodactyly,... |
OMIM:610713 |
| Split-Foot Deformity With Mandibulofacial Dysostosis |
|
Toe syndactyly, Micrognathia, Split hand, Abnormality of the ear, Cleft palate, Split foot, Malar... |
OMIM:183700 |
| Peroxisome Biogenesis Disorder 1B |
|
Hepatomegaly, Hyperoxaluria, Renal cyst, Epiphyseal stippling, Hepatic fibrosis, Cirrhosis |
OMIM:601539 |
| Cleft Palate-Stapes Fixation-Oligodontia Syndrome |
|
Oligodontia of primary teeth, Tarsal synostosis, Cleft palate, Bilateral conductive hearing impai... |
ORPHA:2010 |
| Chops Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Anomalous pulmonary venous return, Aspiratio... |
OMIM:616368 |
| Temtamy Preaxial Brachydactyly Syndrome |
|
Syndactyly, Short metacarpal, Hitchhiker thumb, Tarsal synostosis, Diastema, Deep philtrum, Talon... |
OMIM:605282 |
| Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome |
|
Anencephaly, Hypoplastic left heart, Ventricular septal defect, Spina bifida |
ORPHA:2476 |
| Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly |
|
Syndactyly, Pancreatic fibrosis, Postaxial polydactyly, Preaxial polydactyly, Femoral bowing, Sho... |
OMIM:615503 |
| Bohring-Opitz Syndrome |
|
Joint dislocation, Micrognathia, Vesicoureteral reflux, Dislocated radial head, Syndactyly, Promi... |
OMIM:605039 |
| Hardikar Syndrome |
|
Intrahepatic bile duct cysts, Cholangitis, Hepatic fibrosis, Vesicoureteral reflux, Bladder exstr... |
OMIM:301068 |
| 49,Xxxxy Syndrome |
|
Mandibular prognathia, Delayed eruption of teeth, Hypoplasia of penis, Down-sloping shoulders, Ab... |
ORPHA:96264 |
| Spondyloepimetaphyseal Dysplasia, Di Rocco Type |
|
Metaphyseal dysplasia, Bowing of the legs, Delayed ossification of carpal bones, Irregular acetab... |
OMIM:617974 |
| Acropectorovertebral Dysplasia |
|
Finger syndactyly, Camptodactyly of finger, Tarsal synostosis, Spina bifida, High, narrow palate,... |
ORPHA:957 |
| Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect |
|
Hip contracture, Scapular winging, Internally rotated shoulders, Elbow flexion contracture, Still... |
OMIM:617468 |
| Isolated Growth Hormone Deficiency, Type Ia |
|
Growth delay, Severe short stature, Hypoglycemia, Prolonged neonatal jaundice |
OMIM:262400 |
| Cerebroretinal Microangiopathy With Calcifications And Cysts 2 |
|
Portal hypertension, Esophageal varix, Premature graying of hair, Growth delay, Hepatic fibrosis,... |
OMIM:617341 |
| Split-Hand/Foot Malformation 1 |
|
Syndactyly, Broad hallux, Abnormal pinna morphology, Split hand, Hand oligodactyly, Cleft palate,... |
OMIM:183600 |
| Syndactyly, Type V |
|
Brachydactyly, Camptodactyly of finger, 4-5 toe syndactyly, 4-5 metacarpal synostosis, Enlarged p... |
OMIM:186300 |
| Feingold Syndrome Type 2 |
|
Toe syndactyly, Ventricular septal defect, Short thumb, Short middle phalanx of finger, Brachydac... |
ORPHA:391646 |
| Ivic Syndrome |
|
Limited elbow movement, Preaxial polydactyly, Triphalangeal thumb, Hypoplasia of the ulna, Limite... |
OMIM:147750 |
| Pallister-Hall-Like Syndrome |
|
Occipital encephalocele, Toe syndactyly, Micromelia, Postaxial hand polydactyly, Hydrocephalus, H... |
OMIM:241800 |
| Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Syndactyly, Ventricular septal defect, Micromelia, Postaxial polydactyly, Hypoplastic ilia, Hypop... |
OMIM:617895 |
| Combined Oxidative Phosphorylation Deficiency 10 |
|
Cardiomegaly, Pericardial effusion, Pleural effusion, Hypertrophic cardiomyopathy, Ascites, Oligo... |
OMIM:614702 |
| Baller-Gerold Syndrome |
|
Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Aplasia/Hypoplasia of the patella, Mic... |
ORPHA:1225 |
| Hyperinsulinemic Hypoglycemia, Familial, 6 |
|
Abnormality of the pancreatic islet cells, Asymptomatic hyperammonemia, Hypoglycemic seizures, Hy... |
OMIM:606762 |
| Temtamy Preaxial Brachydactyly Syndrome |
|
Abnormal spaced incisors, Micrognathia, Hypoplasia of the maxilla, Widely-spaced maxillary centra... |
ORPHA:363417 |
| Emanuel Syndrome |
|
Recurrent respiratory infections, Congenital hip dislocation, Truncus arteriosus, Ventricular sep... |
ORPHA:96170 |
| Cholestasis-Lymphedema Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Malabsorption, Conjugated hyperbilirubinemia, Spleno... |
OMIM:214900 |
| Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities |
|
Ulnar deviation of the hand, Ventricular septal defect, Proximal placement of thumb, Patent foram... |
OMIM:620113 |
| Limb-Mammary Syndrome |
|
Hallux valgus, Syndactyly, Split hand, Cleft palate, Hypohidrosis, Split foot, Hypoplastic nipple... |
OMIM:603543 |
| Feingold Syndrome 2 |
|
Ventricular septal defect, Short middle phalanx of the 2nd finger, Short thumb, 2-3 toe syndactyl... |
OMIM:614326 |
| Distal 22Q11.2 Microdeletion Syndrome |
|
Atrial septal defect, Bowing of the long bones, Toe syndactyly, Arachnodactyly, Sandal gap, Campt... |
ORPHA:261330 |
| Thiemann Disease |
|
Broad phalanx, Short phalanx of finger |
OMIM:165700 |
| Arthrogryposis, Distal, Type 3 |
|
Congenital hip dislocation, Overlapping toe, Single transverse palmar crease, Camptodactyly of fi... |
OMIM:114300 |
| Nephronophthisis 9 |
|
Renal cortical microcysts, Stage 5 chronic kidney disease, Nephronophthisis |
OMIM:613824 |
| Tricho-Dento-Osseous Syndrome |
|
Dental enamel pits, Periapical tooth abscess, Enamel hypomineralization, Agenesis of incisor, Fin... |
ORPHA:3352 |
| Oculofaciocardiodental Syndrome |
|
Oligodontia, Fused teeth, Clinodactyly of the 5th finger, Short thumb, 2-3 toe syndactyly, Flexio... |
ORPHA:2712 |
| Cortical Dysplasia, Complex, With Other Brain Malformations 9 |
|
Hydrocephalus, Bilateral talipes equinovarus, Pulmonary hypoplasia |
OMIM:618174 |
| Shwachman-Diamond Syndrome |
|
Delayed eruption of teeth, Hepatomegaly, Sinusitis, Decreased response to growth hormone stimulat... |
ORPHA:811 |
| Dubin-Johnson Syndrome |
|
Hepatomegaly, Abnormal urinary color, Conjugated hyperbilirubinemia, Abnormal gastric mucosa morp... |
ORPHA:234 |
| Brachial Amelia, Cleft Lip, And Holoprosencephaly |
|
Short femur, Ventricular septal defect, Anterior encephalocele, Coloboma, Foot oligodactyly, Holo... |
OMIM:601357 |
| Trisomy 17P |
|
Hypoplasia of penis, Urethral valve, Short stature, Tapered finger, Urethral stenosis, Cleft pala... |
ORPHA:261290 |
| Orofaciodigital Syndrome Viii |
|
Syndactyly, Median cleft lip, Cleft palate, Polydactyly, High palate, Short tibia |
OMIM:300484 |
| Acitretin/Etretinate Embryopathy |
|
Aplasia/hypoplasia involving bones of the lower limbs, Aplasia/Hypoplasia of the maxilla, Aplasia... |
ORPHA:40366 |
| Mucopolysaccharidosis, Type Ix |
|
Acetabular erosions, Submucous cleft hard palate, Periarticular soft-tissue mass, Synovitis, Fing... |
OMIM:601492 |
| Low Phospholipid-Associated Cholelithiasis |
|
Elevated hepatic transaminase, Liver abscess, Cholangitis, Intrahepatic cholestasis, Biliary cirr... |
ORPHA:69663 |
| Syndromic Diarrhea |
|
Villous atrophy, Brittle hair, Abnormality of the liver, Colitis, Hepatic fibrosis, Hypoplasia of... |
ORPHA:84064 |
| Primary Pulmonary Hypoplasia |
|
Recurrent respiratory infections, Dextrocardia, Secundum atrial septal defect, Pneumothorax, Pate... |
ORPHA:2257 |
| Meier-Gorlin Syndrome 5 |
|
Prominent metopic ridge, Micrognathia, Elbow dislocation, Cryptorchidism, Irregular femoral epiph... |
OMIM:613805 |
| Duane-Radial Ray Syndrome |
|
Preaxial polydactyly, Shoulder dislocation, Triphalangeal thumb, Vesicoureteral reflux, Upper lim... |
OMIM:607323 |
| Autosomal Dominant Robinow Syndrome |
|
Hypoplasia of penis, Micromelia, Micrognathia, High, narrow palate, Abnormality of the gingiva, E... |
ORPHA:3107 |
| Renal Hypodysplasia/Aplasia 4 |
|
Pulmonary hypoplasia |
OMIM:619887 |
| Microcephalic Primordial Dwarfism, Dauber Type |
|
Abnormal carpal morphology, Madelung deformity, Bilateral breast hypoplasia, Hip dysplasia, Micro... |
ORPHA:319675 |
| Short-Rib Thoracic Dysplasia 15 With Polydactyly |
|
Hepatomegaly, Median cleft lip, Postaxial polydactyly, Accessory oral frenulum, Splenomegaly, Pos... |
OMIM:617088 |
| Renal Hypodysplasia/Aplasia 2 |
|
Pulmonary hypoplasia |
OMIM:615721 |
| Elsahy-Waters Syndrome |
|
Mandibular prognathia, Bilateral cryptorchidism, Hypoplasia of the maxilla, Anteriorly placed anu... |
OMIM:211380 |
| Microphthalmia, Isolated, With Coloboma 6 |
|
Coloboma |
OMIM:613703 |
| Muenke Syndrome |
|
Brachydactyly, Broad hallux, Capitate-hamate fusion, Sensorineural hearing impairment, Dental mal... |
OMIM:602849 |
| Robinow Syndrome, Autosomal Recessive 2 |
|
Broad hallux, Posteriorly rotated ears, Sandal gap, Micrognathia, Cleft soft palate, Abnormality ... |
OMIM:618529 |
| Megabladder, Congenital |
|
Ventricular septal defect, Bicuspid aortic valve, Left ventricular noncompaction cardiomyopathy, ... |
OMIM:618719 |
| Cholestasis-Lymphedema Syndrome |
|
Hepatomegaly, Portal hypertension, Splenomegaly, Hyperlipidemia, Jaundice, Biliary tract abnormal... |
ORPHA:1414 |
| Orofaciodigital Syndrome Iv |
|
Toe syndactyly, Postaxial polydactyly, Micrognathia, Accessory oral frenulum, Hamartoma of tongue... |
OMIM:258860 |
| Desmosterolosis |
|
Micromelia, Metatarsus adductus, Patent ductus arteriosus, Hydrocephalus, Anomalous pulmonary ven... |
ORPHA:35107 |
| Ketamine-Induced Biliary Dilatation |
|
Abnormal biliary tract morphology, Dysuria |
ORPHA:293807 |
| Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Single transverse palmar crease, Conjugated hyperbilirubinemia, Renal cyst, High palate, Intrahep... |
OMIM:614866 |
| Congenital Heart Block |
|
Pericardial effusion, Patent ductus arteriosus, Hydrops fetalis, Peripheral edema, Endocardial fi... |
ORPHA:60041 |
| 20Q11.2 Microdeletion Syndrome |
|
Brachydactyly, Brainstem dysplasia, Finger clinodactyly, Camptodactyly, Adducted thumb |
ORPHA:444051 |
| Congenital Bile Acid Synthesis Defect Type 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Malabsorption, Splenomegaly, Jaundice, Biliary tract... |
ORPHA:79301 |
| Verloove Vanhorick-Brubakk Syndrome |
|
Finger syndactyly, Tarsal synostosis, Micrognathia, Cryptorchidism, Abnormality of the parathyroi... |
ORPHA:3429 |
| Alg3-Cdg |
|
Metaphyseal chondrodysplasia, Abnormal limb bone morphology, Coarctation of the descending aortic... |
ORPHA:79321 |
| Heterotaxy, Visceral, 8, Autosomal |
|
Atrial situs inversus, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Aortopulm... |
OMIM:617205 |
| Meckel Syndrome, Type 9 |
|
Limb undergrowth, Multicystic kidney dysplasia, Talipes equinovarus |
OMIM:614209 |
| Dpm1-Cdg |
|
Elevated hepatic transaminase, Hepatomegaly, Sandal gap, Elevated circulating creatine kinase con... |
ORPHA:79322 |
| Nance-Horan Syndrome |
|
Diastema, Screwdriver-shaped incisors, Mulberry molar, Broad finger, Supernumerary maxillary inci... |
OMIM:302350 |
| H Syndrome |
|
Hallux valgus, Abnormal eyebrow morphology, Alopecia, Diabetes mellitus, Hypertriglyceridemia, Ab... |
ORPHA:168569 |
| Talo-Patello-Scaphoid Osteolysis, Synovitis, And Short Fourth Metacarpals |
|
Osteolysis of talus, Osteolysis of scaphoids, Synovitis, Short 4th metacarpal, Osteolysis of pate... |
OMIM:609655 |
| Agnathia-Otocephaly Complex |
|
Secundum atrial septal defect, Situs inversus totalis, Pulmonary hypoplasia, Holoprosencephaly, A... |
OMIM:202650 |
| Acrodysostosis 2 With Or Without Hormone Resistance |
|
Mandibular prognathia, Short metacarpal, Hypospadias, Cryptorchidism, Short metatarsal, Advanced ... |
OMIM:614613 |
| Chromosome 16Q22 Deletion Syndrome |
|
Prominent metopic ridge, Posteriorly rotated ears, Single transverse palmar crease, Broad hallux,... |
OMIM:614541 |
| Spondyloepiphyseal Dysplasia, Kondo-Fu Type |
|
Posteriorly rotated ears, Delayed ossification of carpal bones, Short femoral neck, Macrotia, Bra... |
OMIM:618392 |
| Telo2-Related Intellectual Disability-Neurodevelopmental Disorder |
|
Microretrognathia, Hip contracture, Brachydactyly, Bilateral single transverse palmar creases, Ov... |
ORPHA:488642 |
| Robin Sequence With Cleft Mandible And Limb Anomalies |
|
Proximal placement of thumb, Micrognathia, Aplasia of the epiglottis, Protruding ear, High palate... |
OMIM:268305 |
| Primary Sclerosing Cholangitis |
|
Acute hepatic failure, Hepatic fibrosis, Hypoalbuminemia, Neoplasm of the gallbladder, Adenocarci... |
ORPHA:171 |
| Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome |
|
Occipital encephalocele, Hydrocephalus, Coloboma |
ORPHA:324416 |
| Proximal Symphalangism |
|
Finger syndactyly, Brachydactyly, Camptodactyly of finger, Tarsal synostosis, Elbow dislocation, ... |
ORPHA:3250 |
| Spondyloepimetaphyseal Dysplasia, Krakow Type |
|
Rhizomelia, Ulnar deviation of the wrist, 2-3 toe syndactyly, Delayed pubic bone ossification, Kn... |
OMIM:618162 |
| Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly |
|
Short metacarpal, Brachydactyly, Sandal gap, Postaxial polydactyly, Carious teeth, Short metatars... |
OMIM:617102 |
| Beckwith-Wiedemann Syndrome |
|
Hepatomegaly, Cardiomegaly, Cryptorchidism, Pancreatic hyperplasia, Vesicoureteral reflux, Renal ... |
OMIM:130650 |
| Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome |
|
Short fourth metatarsal, Tented upper lip vermilion, Tibial metaphyseal irregularity, Abnormality... |
ORPHA:457395 |
| Distal Limb Deficiencies-Micrognathia Syndrome |
|
Aplasia/Hypoplasia of the thumb, Hypoplasia of the maxilla, High palate, Conductive hearing impai... |
ORPHA:1307 |
| Silver-Russell Syndrome 1 |
|
Syndactyly, Urethral valve, Hypospadias, Decreased response to growth hormone stimulation test, M... |
OMIM:180860 |
| Brachydactyly, Type B2 |
|
Tarsal synostosis, Proximal placement of thumb, Aplasia/Hypoplasia of the middle phalanges of the... |
OMIM:611377 |
| Mosaic Trisomy 16 |
|
Syndactyly, Ventricular septal defect, Single transverse palmar crease, Short thumb, Patent ductu... |
ORPHA:1708 |
| Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Hepatomegaly, Arachnodactyly, Single transverse palmar crease, Overlapping toe, Micrognathia, Bil... |
ORPHA:83617 |
| Arthrogryposis, Distal, Type 11 |
|
Rocker bottom foot, Metatarsus adductus, Calcaneovalgus deformity, Talipes equinovarus, Camptodac... |
OMIM:620019 |
| Joubert Syndrome 22 |
|
Postaxial foot polydactyly, Postaxial hand polydactyly, Molar tooth sign on MRI, 2-3 toe syndactyly |
OMIM:615665 |
| Atrial Septal Defect, Sinus Venosus Type |
|
Right ventricular dilatation, Stroke, Anomalous pulmonary venous return |
ORPHA:99105 |
| Eiken Syndrome |
|
Delayed epiphyseal ossification, Eruption failure, Pseudoepiphyses, Oligodontia, Delayed tarsal o... |
OMIM:600002 |
| Hennekam Syndrome |
|
Delayed eruption of teeth, Finger syndactyly, Abnormal dental morphology, Camptodactyly of finger... |
ORPHA:2136 |
| Schwartz-Jampel Syndrome |
|
Micromelia, Micrognathia, Coxa vara, High palate, Wrist flexion contracture, Low-set, posteriorly... |
ORPHA:800 |
| Congenital Heart Defects, Multiple Types, 7 |
|
Absence of the pulmonary valve, Aortopulmonary collateral arteries, Right aortic arch, Pulmonic s... |
OMIM:618780 |
| 8Q22.1 Microdeletion Syndrome |
|
Finger syndactyly, Abnormal pinna morphology, Underfolded helix, Sandal gap, Camptodactyly of fin... |
ORPHA:178303 |
| Holt-Oram Syndrome |
|
Syndactyly, Hypoplasia of the ulna, Short humerus, Aplasia of the ulna, Absent thumb, Absent radi... |
OMIM:142900 |
| Cerebellofaciodental Syndrome |
|
Single transverse palmar crease, Tapered finger, Cryptorchidism, Dental malocclusion, Shortening ... |
OMIM:616202 |
| X-Linked Intellectual Disability, Siderius Type |
|
Preaxial hand polydactyly, Cryptorchidism, Large hands, Decreased testicular size |
ORPHA:85287 |
| Qazi-Markouizos Syndrome |
|
Tapered finger, Cryptorchidism, High, narrow palate, Hypoplasia of teeth, Delayed ossification of... |
ORPHA:3010 |
| Oculodentodigital Dysplasia |
|
Mandibular prognathia, Micrognathia, Abnormality of the ear, Clinodactyly of the 5th finger, Cond... |
ORPHA:2710 |
| Frontometaphyseal Dysplasia 1 |
|
Selective tooth agenesis, Limited elbow movement, Absent frontal sinuses, Knee flexion contractur... |
OMIM:305620 |
| Angel-Shaped Phalangoepiphyseal Dysplasia |
|
Hyperextensibility of the finger joints, Pseudoepiphyses of the metacarpals, Premature osteoarthr... |
OMIM:105835 |
| Congenital Heart Defects, Multiple Types, 5 |
|
Bicuspid aortic valve, Ventricular septal defect, Dilated cardiomyopathy, Aortic valve stenosis, ... |
OMIM:617912 |
| Fallot Complex With Severe Mental And Growth Retardation |
|
Double outlet right ventricle, Tetralogy of Fallot, Ventricular septal defect, Pulmonic stenosis |
OMIM:601127 |
| Hallermann-Streiff Syndrome |
|
Natal tooth, Selective tooth agenesis, Abnormality of the hand, Micrognathia, Spina bifida, Crypt... |
OMIM:234100 |
| Dent Disease 2 |
|
Elevated circulating aspartate aminotransferase concentration, Elevated circulating creatine kina... |
OMIM:300555 |
| Lethal Osteosclerotic Bone Dysplasia |
|
Posteriorly rotated ears, Micrognathia, Large fontanelles, Gingival fibromatosis, Gingival overgr... |
ORPHA:1832 |
| Meckel Syndrome 14 |
|
Syndactyly, Bowing of the long bones, Postaxial polydactyly, Postaxial hand polydactyly, Postaxia... |
OMIM:619879 |
| Microgastria-Limb Reduction Defect Syndrome |
|
Abnormal morphology of the radius, Atrial septal defect, Aplastic clavicle, Abnormality of the hu... |
ORPHA:2538 |
| Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphism |
|
Pulmonary hypoplasia, Upper limb undergrowth |
OMIM:613124 |
| Craniometadiaphyseal Dysplasia |
|
Mandibular prognathia, Natal tooth, Broad long bones, Dental crowding, Coxa valga, Microdontia, W... |
OMIM:269300 |
| Thomas Syndrome |
|
Multicystic kidney dysplasia, Cleft palate, Renal hypoplasia/aplasia |
ORPHA:3316 |
| Congenital Heart Defects, Multiple Types, 4 |
|
Ventricular septal defect, Coarctation of aorta, Hypoplastic left heart, Aortic valve stenosis, A... |
OMIM:615779 |
| Chime Syndrome |
|
Abnormal dental morphology, Aplastic clavicle, Abnormality of the dentition, Supernumerary tooth,... |
ORPHA:3474 |
| Desbuquois Dysplasia 1 |
|
Joint dislocation, Triangular shaped phalanges of the hand, Metaphyseal widening, Osteoarthritis,... |
OMIM:251450 |
| Cree Mental Retardation Syndrome |
|
Posteriorly rotated ears, Rocker bottom foot, Cleft soft palate, Micrognathia, Hypospadias, Crypt... |
OMIM:606851 |
| Cranioectodermal Dysplasia 2 |
|
Cholangitis, Renal cyst, High palate, Sparse hair, Syndactyly, Hepatomegaly, Rhizomelia, Short st... |
OMIM:613610 |
| Amelogenesis Imperfecta, Type Ia |
|
Dental enamel pits, Taurodontia, Generalized microdontia, Enamel hypoplasia, Amelogenesis imperfecta |
OMIM:104530 |
| Desmosterolosis |
|
Rhizomelia, Partial agenesis of the corpus callosum, Patent ductus arteriosus, Hydrocephalus, Bil... |
OMIM:602398 |
| Medullary cystic kidney disease 2 |
|
Multiple small medullary renal cysts, Stage 5 chronic kidney disease, Enuresis, Tubulointerstitia... |
OMIM:603860 |
| Dominant Beta-Thalassemia |
|
Hypoparathyroidism, Bowing of the long bones, Diabetes mellitus, Hypersplenism, Splenomegaly, Jau... |
ORPHA:231226 |
| Congenital Pulmonary Lymphangiectasia |
|
Hydrops fetalis, Chylopericardium, Pulmonic stenosis, Pleural effusion, Ascites |
ORPHA:2414 |
| Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome |
|
Multicystic kidney dysplasia, Short stature, Congenital hepatic fibrosis, Renal cyst, Glossoptosi... |
ORPHA:2031 |
| Cardiocranial Syndrome, Pfeiffer Type |
|
Low-set, posteriorly rotated ears, Small hypothenar eminence, Contracture of the proximal interph... |
ORPHA:2872 |
| Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Secundum atrial septal defect, Aqueductal stenosis, Primum atrial septal defect, Inlet ventricula... |
OMIM:619534 |
| Laurin-Sandrow Syndrome |
|
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Tarsal synostosis, Absent rad... |
ORPHA:2378 |
| Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Hepatomegaly, Maternal diabetes, Increased C-peptide level, Episodic hyperhidrosis, Hyperinsuline... |
ORPHA:276580 |
| Craniosynostosis And Dental Anomalies |
|
Mandibular prognathia, Dental crowding, Hypoplasia of the maxilla, Clinodactyly, High palate, Con... |
OMIM:614188 |
| Cog7-Cdg |
|
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ... |
ORPHA:79333 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Hypoplasia of the pons, Hydrocephalus, Coloboma, Hypoplasia of the brainstem, Left ventricular hy... |
OMIM:613153 |
| D-Bifunctional Protein Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Split hand, Primary adrenal insufficie... |
OMIM:261515 |
| Mesoaxial Synostotic Syndactyly With Phalangeal Reduction |
|
Finger syndactyly, Toe syndactyly, Short hallux, Aplasia/Hypoplasia of the middle phalanges of th... |
ORPHA:157801 |
| Cranioectodermal Dysplasia 1 |
|
Single transverse palmar crease, High, narrow palate, Tubulointerstitial nephritis, Hepatic fibro... |
OMIM:218330 |
| Branchiootorenal Syndrome 1 |
|
Branchial cyst, Congenital hip dislocation, High palate, Vesicoureteral reflux, Conductive hearin... |
OMIM:113650 |
| Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness |
|
Broad toe, Enlarged metacarpal epiphyses, Sensorineural hearing impairment, Enlarged epiphyses of... |
OMIM:609616 |
| Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Hepatomegaly, Increased C-peptide level, Episodic hyperhidrosis, Hyperinsulinemia, Hypoglycemic s... |
ORPHA:276575 |
| Liver Disease, Severe Congenital |
|
Chronic gastritis, Dry hair, Cardiomegaly, Biliary hyperplasia, Aminoaciduria, Protein-losing ent... |
OMIM:619991 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 4 |
|
Hyperalaninemia, Hepatomegaly, Increased urine succinate level, Hypoglycemia, Elevated circulatin... |
OMIM:619048 |
| Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type |
|
Epiphyseal dysplasia, Abnormal metatarsal morphology, Hip subluxation, Flat capital femoral epiph... |
ORPHA:93360 |
| Epiphyseal Dysplasia, Multiple, 1 |
|
Epiphyseal dysplasia, Short metacarpal, Avascular necrosis of the capital femoral epiphysis, Dela... |
OMIM:132400 |
| Alagille Syndrome 2 |
|
Renal insufficiency, Proteinuria, Renal hypoplasia, Cholestasis, Renal cyst, Hematuria, Renal tub... |
OMIM:610205 |
| Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome |
|
Wormian bones, Brachydactyly, Short distal phalanx of finger |
ORPHA:2787 |
| Primary Biliary Cholangitis |
|
Portal hypertension, Conjugated hyperbilirubinemia, Celiac disease, Jaundice, Hepatic failure, Bi... |
ORPHA:186 |
| Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect |
|
Preaxial foot polydactyly, Polysyndactyly of hallux, Aganglionic megacolon |
OMIM:235750 |
| Cranioacrofacial Syndrome |
|
Abnormal hand morphology, Dupuytren contracture, Ventricular septal defect, Pulmonic stenosis |
OMIM:122850 |
| Short-Rib Thoracic Dysplasia 12 |
|
Hypoplastic scapulae, Ventricular septal defect, Bowing of the legs, Atelectasis, Short toe, Pate... |
OMIM:269860 |
| Ruvalcaba Syndrome |
|
Short metacarpal, Dental crowding, Micromelia, Cryptorchidism, Limited elbow extension, Short met... |
OMIM:180870 |
| Orofaciodigital Syndrome Xi |
|
Cleft palate, Postaxial polydactyly |
OMIM:612913 |
| Suleiman-El-Hattab Syndrome |
|
Microretrognathia, Thin upper lip vermilion, Brachydactyly, Single transverse palmar crease, Cryp... |
OMIM:618950 |
| Cleft Palate, Cardiac Defects, And Impaired Intellectual Development |
|
Short 2nd finger, Sandal gap, Broad hallux, Ventricular septal defect, Secundum atrial septal def... |
OMIM:600987 |
| Hallermann-Streiff Syndrome |
|
Natal tooth, Micrognathia, Abnormality of the dentition, Cryptorchidism, High, narrow palate, Sup... |
ORPHA:2108 |
| Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3 |
|
Delayed eruption of teeth, Short metacarpal, Camptodactyly of finger, Tapered finger, Thenar musc... |
OMIM:612350 |
| Atrial Septal Defect, Coronary Sinus Type |
|
Unroofed coronary sinus, Transient ischemic attack, Pneumonia, Anomalous pulmonary venous return,... |
ORPHA:99104 |
| Smith-Magenis Syndrome |
|
Mandibular prognathia, Toe syndactyly, Tented upper lip vermilion, Delayed eruption of primary te... |
ORPHA:819 |
| Roberts Syndrome |
|
Aplasia/Hypoplasia of the thumb, Proximal placement of thumb, High palate, Sparse hair, Clinodact... |
ORPHA:3103 |
| Familial Thyroid Dyshormonogenesis |
|
Positive perchlorate discharge test, Large posterior fontanelle, Thyroid defect in oxidation and ... |
ORPHA:95716 |
| Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
|
Hypoparathyroidism, Renal dysplasia, Renal insufficiency, Diabetes mellitus, Unilateral renal age... |
ORPHA:2237 |
| Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3 |
|
Hypospadias, Cryptorchidism, Polydactyly, Low-set ears, Conductive hearing impairment, Hypoplasti... |
OMIM:616910 |
| Cystic Echinococcosis |
|
Abnormal peritoneum morphology, Hepatomegaly, Elevated hepatic transaminase, Hepatic cysts, Abnor... |
ORPHA:400 |
| Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Encephalocele, Broad long bones, Micromelia, Bowing of the legs, Hypoplastic ilia, Hydrocephalus,... |
ORPHA:1865 |
| Eec Syndrome |
|
Aplasia/Hypoplasia of the thumb, Decreased response to growth hormone stimulation test, Proximal ... |
ORPHA:1896 |
| Gillespie Syndrome |
|
Aniridia, Truncus arteriosus |
OMIM:206700 |
| Atrial Septal Defect 4 |
|
Atrial septal defect, Patent foramen ovale, Coarctation of aorta |
OMIM:611363 |
| Idiopathic Congenital Hypothyroidism |
|
Large posterior fontanelle, Delayed proximal femoral epiphyseal ossification, Increased radioacti... |
ORPHA:95717 |
| Moebius Syndrome |
|
Syndactyly, Brachydactyly, Abnormal pinna morphology, Micrognathia, Abnormality of the dentition,... |
OMIM:157900 |
| Sonoda Syndrome |
|
High axial triradius, Ventricular septal defect |
OMIM:270460 |
| Microphthalmia With Limb Anomalies |
|
Single transverse palmar crease, 2-3 toe cutaneous syndactyly, Deep philtrum, Tibial bowing, Camp... |
OMIM:206920 |
| Osteogenesis Imperfecta, Type Xii |
|
Delayed eruption of teeth, Hyperextensibility of the finger joints, Bowing of the legs, Micrognat... |
OMIM:613849 |
| Adams-Oliver Syndrome |
|
Encephalocele, Finger syndactyly, Brachydactyly, Abnormal pulmonary valve morphology, Absent toe,... |
ORPHA:974 |
| Joubert Syndrome 33 |
|
Molar tooth sign on MRI, Syndactyly |
OMIM:617767 |
| Shwachman-Diamond Syndrome 2 |
|
Hepatomegaly, Metaphyseal widening, Genu varum, Steatorrhea, High palate, Low-set ears, Hyperecho... |
OMIM:617941 |
| Smith-Mccort Dysplasia 2 |
|
Mandibular prognathia, Short metacarpal, Enlarged interphalangeal joints, Broad femoral neck, Bro... |
OMIM:615222 |
| Schimke Immuno-Osseous Dysplasia |
|
Wide capital femoral epiphyses, Proteinuria, Abnormality of thyroid physiology, Nephrotic range p... |
ORPHA:1830 |
| Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness |
|
Epiphyseal dysplasia, Coxa valga, Genu valgum, Narrow mouth, Conductive hearing impairment, Short... |
OMIM:132450 |
| Benign Recurrent Intrahepatic Cholestasis |
|
Elevated hepatic transaminase, Jaundice, Acholic stools, Cholestatic liver disease, Cirrhosis, He... |
ORPHA:65682 |
| Short-Rib Thoracic Dysplasia 14 With Polydactyly |
|
Postaxial polydactyly, Aplastic clavicle, Micromelia, Hydrocephalus, Preaxial polydactyly, Anence... |
OMIM:616546 |
| Cleft Lip/Palate |
|
Agenesis of lateral incisor, Bilateral cleft palate, Hypoplasia of the maxilla, Velopharyngeal in... |
ORPHA:199306 |
| Argininosuccinic Aciduria |
|
Hepatomegaly, Dry hair, Brittle hair, Elevated circulating aspartate aminotransferase concentrati... |
OMIM:207900 |
| Bardet-Biedl Syndrome 17 |
|
Mesoaxial polydactyly, Short fourth metatarsal, Mesoaxial hand polydactyly, Polyuria, Postaxial h... |
OMIM:615994 |
| Eiken Syndrome |
|
Epiphyseal dysplasia, Abnormal acetabulum morphology, Abnormal fingertip morphology, Delayed epip... |
ORPHA:79106 |
| Nephrogenic Diabetes Insipidus-Intracranial Calcification-Short Stature-Facial Dysmorphism Syndrome |
|
Micrognathia, Carious teeth, Supernumerary tooth, Abnormal antihelix morphology, Hypoplasia of th... |
ORPHA:3145 |
| Kagami-Ogata Syndrome |
|
Atrial septal defect, Ventricular septal defect, Coxa valga, Long fingers, Patent ductus arterios... |
OMIM:608149 |
| Heart Defects, Congenital, And Other Congenital Anomalies |
|
Double outlet left ventricle, Ventricular septal defect, Patent foramen ovale, Patent ductus arte... |
OMIM:600001 |
| Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome |
|
Atrial septal defect, Bicuspid aortic valve, Single transverse palmar crease, Ventricular septal ... |
ORPHA:329224 |
| Tibial Hemimelia |
|
Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Knee flexion contracture, Increased... |
ORPHA:93322 |
| Meckel Syndrome, Type 1 |
|
Asplenia, Lobulated tongue, Accessory spleen, Syndactyly, Malformation of the hepatic ductal plat... |
OMIM:249000 |
| Nephronophthisis 14 |
|
Polycystic kidney dysplasia, Nephronophthisis |
OMIM:614844 |
| Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Elevated hepatic transaminase, Giant cell hepatitis, Hepatic melanin-like lysosomal pigmentation,... |
OMIM:208085 |
| Meckel Syndrome 13 |
|
Molar tooth sign on MRI, Occipital encephalocele |
OMIM:617562 |
| Atrial Septal Defect 2 |
|
Ventricular septal defect, Dextrocardia, Patent ductus arteriosus, Pulmonic stenosis, Atrial sept... |
OMIM:607941 |
| Autosomal Recessive Kenny-Caffey Syndrome |
|
Stenosis of the medullary cavity of the long bones, Carious teeth, Small hand, Short foot, Cortic... |
ORPHA:93324 |
| Cholestasis, Benign Recurrent Intrahepatic, 2 |
|
Hepatomegaly, Conjugated hyperbilirubinemia, Intrahepatic cholestasis, Jaundice, Elevated circula... |
OMIM:605479 |
| Al-Gazali-Bakalinova Syndrome |
|
Epiphyseal dysplasia, Enlarged joints, Tapered finger, Triangular mouth, Flattened epiphysis, Gen... |
OMIM:607131 |
| Glycogen Storage Disease Vii |
|
Increased circulating lactate dehydrogenase concentration, Elevated circulating creatine kinase c... |
OMIM:232800 |
| Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome |
|
Coxa valga, Micrognathia, Wide anterior fontanel, Abnormality of the elbow, Flattened epiphysis, ... |
ORPHA:163649 |
| Char Syndrome |
|
Toe syndactyly, Mesoaxial foot polydactyly, Mesoaxial hand polydactyly, Supernumerary nipple, Per... |
ORPHA:46627 |
| Desbuquois Dysplasia 2 |
|
Dental crowding, Single transverse palmar crease, Metaphyseal widening, Knee dislocation, Short p... |
OMIM:615777 |
| Congenital Total Pulmonary Venous Return Anomaly |
|
Recurrent respiratory infections, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia... |
ORPHA:99125 |
| Otopalatodigital Syndrome Type 2 |
|
Encephalocele, Bowing of the long bones, Abnormal heart valve morphology, Tarsal synostosis, Shor... |
ORPHA:90652 |
| Smith-Lemli-Opitz Syndrome |
|
Hypoplasia of penis, Proximal placement of thumb, Micrognathia, Advanced eruption of teeth, Low-s... |
ORPHA:818 |
| Gcgr-Related Hyperglucagonemia |
|
Neoplasm of the pancreas, Diabetes mellitus, Increased glucagon level, Cholelithiasis, Abnormal b... |
ORPHA:438274 |
| Hajdu-Cheney Syndrome |
|
Micrognathia, Absent frontal sinuses, Renal cyst, High palate, Conductive hearing impairment, Pre... |
OMIM:102500 |
| Satb2-Associated Syndrome Due To A Chromosomal Rearrangement |
|
Dental crowding, Micrognathia, Tibial bowing, High palate, Short philtrum, Microdontia, Clinodact... |
ORPHA:251028 |
| Beta-Thalassemia Major |
|
Hypoparathyroidism, Hepatomegaly, Bowing of the long bones, Diabetes mellitus, Hypersplenism, Spl... |
ORPHA:231214 |
| 2Q24 Microdeletion Syndrome |
|
Toe syndactyly, Camptodactyly of finger, Long fingers, Bullet-shaped distal phalanx of the hallux... |
ORPHA:1617 |
| Rubinstein-Taybi Syndrome 2 |
|
Syndactyly, Posteriorly rotated ears, Broad hallux, Intestinal malrotation, Micrognathia, Carious... |
OMIM:613684 |
| Right Pulmonary Artery, Anomalous Origin Of, Familial |
|
Ventricular septal defect, Patent ductus arteriosus, Coarctation of aorta, Patent foramen ovale, ... |
OMIM:610338 |
| Igg4-Related Kidney Disease |
|
Elevated circulating C-reactive protein concentration, Renal interstitial immunoglobulin deposits... |
ORPHA:449395 |
| Microphthalmia With Limb Anomalies |
|
Micrognathia, Hypoplasia of the maxilla, Tibial bowing, Camptodactyly of 2nd-5th fingers, Foot ol... |
ORPHA:1106 |
| Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Short femur, Fractured radius, Ventricular septal defect, Decreased fibular diameter, Cardiomegal... |
OMIM:616897 |
| Transaldolase Deficiency |
|
Hepatomegaly, Splenomegaly, Micronodular cirrhosis, Synophrys, Hepatosplenomegaly, Hepatic fibros... |
OMIM:606003 |
| Acrorenal-Mandibular Syndrome |
|
Hypoplasia of the ulna, Toe syndactyly, Hypoplastic scapulae, Absent nipple, Renal agenesis, Spli... |
OMIM:200980 |
| Immunodeficiency 47 |
|
Accessory spleen, Hepatomegaly, Elevated hepatic transaminase, Decreased circulating copper conce... |
OMIM:300972 |
| Hyperinsulinism Due To Ucp2 Deficiency |
|
Hepatomegaly, Reactive hypoglycemia, Increased C-peptide level, Episodic hyperhidrosis, Hypoglyce... |
ORPHA:276556 |
| Chromosome 3Pter-P25 Deletion Syndrome |
|
Thin upper lip vermilion, Prominent metopic ridge, Overlapping toe, Postaxial polydactyly, Tapere... |
OMIM:613792 |
| Apert Syndrome |
|
Mandibular prognathia, Limited elbow movement, Delayed epiphyseal ossification, Hyperhidrosis, Cu... |
OMIM:101200 |
| Brachydactyly Type B |
|
Type B brachydactyly, Finger syndactyly, Short metacarpal, 2nd-5th toe middle phalangeal hypoplas... |
ORPHA:93383 |
| Isolated Cleft Lip |
|
Macrodontia, Bilateral cleft lip, Velopharyngeal insufficiency, Non-midline cleft lip, Abnormal E... |
ORPHA:199302 |
| Porencephaly, Cerebellar Hypoplasia, And Internal Malformations |
|
Situs inversus totalis, Atrial septal defect, Tetralogy of Fallot |
OMIM:601322 |
| Tonne-Kalscheuer Syndrome |
|
Abnormal heart morphology, Pulmonary hypoplasia, Broad thumb, Brachydactyly |
OMIM:300978 |
| Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy |
|
Atrial septal defect, Ventricular septal defect |
OMIM:614249 |
| Microphthalmia, Syndromic 2 |
|
Anteverted ears, 2-3 toe cutaneous syndactyly, Oligodontia, Fused teeth, Contracture of the proxi... |
OMIM:300166 |
| Silver-Russell Syndrome Due To A Point Mutation |
|
Syndactyly, Hypospadias, Micrognathia, Cryptorchidism, Cleft palate, Short 5th finger, Polydactyl... |
ORPHA:397590 |
| Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome |
|
Mandibular prognathia, Camptodactyly of finger, Micrognathia, Submucous cleft hard palate, Cleft ... |
ORPHA:2521 |
| Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency |
|
Ketonuria, Elevated circulating growth hormone concentration, Multiple pancreatic beta-cell adeno... |
ORPHA:79644 |
| Multicentric Carpotarsal Osteolysis Syndrome |
|
Renal insufficiency, Ulnar deviation of the hand, Proteinuria, Ankle swelling, Micrognathia, Wris... |
OMIM:166300 |
| Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type |
|
Micrognathia, Carious teeth, Hypoplastic pubic bone, Flared metaphysis, Glossoptosis, Short long ... |
ORPHA:93346 |
| Mucolipidosis Ii Alpha/Beta |
|
Brittle hair, Increased serum beta-hexosaminidase, Cardiomegaly, Metaphyseal widening, Sparse hai... |
OMIM:252500 |
| Joubert Syndrome 27 |
|
Molar tooth sign on MRI, Polydactyly |
OMIM:617120 |
| Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ... |
OMIM:615895 |
| Holoprosencephaly 12 With Or Without Pancreatic Agenesis |
|
Absent gallbladder, Sensorineural hearing impairment, Microtia, High palate, Hypoplasia of the zy... |
OMIM:618500 |
| Intellectual Developmental Disorder, Autosomal Recessive 67 |
|
Coloboma |
OMIM:618295 |
| Nephronophthisis 2 |
|
Absence of renal corticomedullary differentiation, Elevated circulating creatinine concentration,... |
OMIM:602088 |
| Fanconi-Bickel Syndrome |
|
Hepatocellular carcinoma, Nephrocalcinosis, Fasting hypoglycemia, Nephropathy, Hepatomegaly, Elev... |
ORPHA:2088 |
| Thanatophoric Dysplasia Type 2 |
|
Encephalocele, Micromelia, Patent ductus arteriosus, Hydrocephalus, Aplasia/Hypoplasia of the lun... |
ORPHA:93274 |
| 20P13 Microdeletion Syndrome |
|
Finger syndactyly, Thin upper lip vermilion, Tented upper lip vermilion, Abnormal pinna morpholog... |
ORPHA:313781 |
| Hyperinsulinism Due To Hnf1A Deficiency |
|
Hepatomegaly, Ketotic hypoglycemia, Maternal diabetes, Reactive hypoglycemia, Maturity-onset diab... |
ORPHA:324575 |
| Fetal Minoxidil Syndrome |
|
Clinodactyly of the 5th finger, Umbilical hernia, Ventricular septal defect |
ORPHA:1918 |
| Chromosome 13Q33-Q34 Deletion Syndrome |
|
Encephalocele, Overlapping toe, Single transverse palmar crease, Tapered finger, Short thumb, Pat... |
OMIM:619148 |
| Joubert Syndrome With Hepatic Defect |
|
Elevated hepatic transaminase, Hepatomegaly, Multicystic kidney dysplasia, Renal insufficiency, P... |
ORPHA:1454 |
| Bardet-Biedl Syndrome 6 |
|
Syndactyly, Renal cyst, Hypospadias, Postaxial polydactyly |
OMIM:605231 |
| Joubert Syndrome 37 |
|
Hepatomegaly, Prominent metopic ridge, Posteriorly rotated ears, Postaxial polydactyly, Cryptorch... |
OMIM:619185 |
| Joubert Syndrome 32 |
|
Postaxial foot polydactyly, Postaxial hand polydactyly, Molar tooth sign on MRI |
OMIM:617757 |
| Thanatophoric Dysplasia, Type I |
|
Bowing of the long bones, Small abnormally formed scapulae, Hypoplastic ilia, Hydrocephalus, Flar... |
OMIM:187600 |
| Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects |
|
Coloboma, Transposition of the great arteries, Talipes equinovarus, Clinodactyly, Patent foramen ... |
OMIM:616789 |
| Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
|
Ureteral duplication, Neonatal insulin-dependent diabetes mellitus, Intestinal malrotation, Exocr... |
ORPHA:2255 |
| Potocki-Shaffer Syndrome |
|
2-5 finger cutaneous syndactyly, Single transverse palmar crease, Downturned corners of mouth, Sh... |
OMIM:601224 |
| Maternal Uniparental Disomy Of Chromosome 1 |
|
Hepatomegaly, Single transverse palmar crease, Uplifted earlobe, Delayed closure of the anterior ... |
ORPHA:251009 |
| Mednik Syndrome |
|
Jejunal atresia, Cholestasis, Growth delay, Hepatic fibrosis, Cirrhosis, Increased circulating ve... |
OMIM:609313 |
| Trisomy 8P |
|
Short fourth metatarsal, Single transverse palmar crease, Nephrocalcinosis, Aplasia/Hypoplasia of... |
ORPHA:264450 |
| Silver-Russell Syndrome |
|
Low-set, posteriorly rotated ears, Sandal gap, Dental crowding, Hypospadias, Micrognathia, Crypto... |
ORPHA:813 |
| Tetraamelia Syndrome 2 |
|
Bilateral lung agenesis, Ventricular septal defect, Hypoplastic pulmonary veins |
OMIM:618021 |
| Frontal Encephalocele |
|
Encephalocele, Hydrocephalus, Spina bifida |
ORPHA:1931 |
| Laurin-Sandrow Syndrome |
|
Syndactyly, Absent radius, Patellar aplasia, Short foot, Hand polydactyly, Triphalangeal thumb, A... |
OMIM:135750 |
| Propionic Acidemia |
|
Hepatomegaly, Organic aciduria, Hypoglycemia, Hyperammonemia |
ORPHA:35 |
| Dihydropyrimidine Dehydrogenase Deficiency |
|
Coloboma, Agenesis of corpus callosum |
OMIM:274270 |
| Endocrine-Cerebroosteodysplasia |
|
Syndactyly, Bowed forearm bones, Ulnar deviation of the hand, Hypospadias, Single transverse palm... |
OMIM:612651 |
| Hirschsprung Disease With Polydactyly, Renal Agenesis, And Deafness |
|
Hand polydactyly, Aganglionic megacolon, Unilateral renal agenesis |
OMIM:235740 |
| Indomethacin Embryofetopathy |
|
Nephropathy, Renal insufficiency, Multicystic kidney dysplasia, Abnormal renal tubule morphology |
ORPHA:1909 |
| Distal Triplication 15Q |
|
Arachnodactyly, Abnormality of the kidney, Dilatation of the renal pelvis, Horseshoe kidney, Hydr... |
ORPHA:314588 |
| Hypertension And Brachydactyly Syndrome |
|
Cone-shaped epiphysis, Short metacarpal, Short phalanx of finger, Type E brachydactyly |
OMIM:112410 |
| Coffin-Siris Syndrome 6 |
|
Wormian bones, Posteriorly rotated ears, Micrognathia, High, narrow palate, Deep philtrum, Cleft ... |
OMIM:617808 |
| Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects |
|
1-2 toe syndactyly, Broad hallux, Ventricular septal defect, Tapered finger, Partial anomalous pu... |
OMIM:301044 |
| Pulmonary Capillary Hemangiomatosis |
|
Pulmonary edema, Diffuse alveolar hemorrhage, Pericardial effusion, Pulmonary capillary hemangiom... |
ORPHA:199241 |
| Mitochondrial Pyruvate Carrier Deficiency |
|
Increased serum pyruvate, Hepatomegaly, Organic aciduria, Hypoglycemia |
OMIM:614741 |
| Glycogen Storage Disease Ixb |
|
Hepatomegaly, Hypoglycemia, Short stature, Splenomegaly, Growth delay, Hyperuricemia, Increased h... |
OMIM:261750 |
| Tooth Agenesis, Selective, 9 |
|
Microdontia, Taurodontia, Selective tooth agenesis |
OMIM:617275 |
| Lysosomal Acid Lipase Deficiency |
|
Hyponatremia, Elevated hepatic transaminase, Fatal liver failure in infancy, Hypertriglyceridemia... |
ORPHA:275761 |
| Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome |
|
Renal insufficiency, Proteinuria, Tapered finger, Supernumerary tooth, Thin vermilion border, Thi... |
ORPHA:86818 |
| Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome |
|
Delayed eruption of teeth, Finger syndactyly, Abnormal dental enamel morphology, Supernumerary ni... |
ORPHA:1071 |
| Peroxisome Biogenesis Disorder 11A (Zellweger) |
|
Elevated hepatic transaminase, Multiple renal cysts, Decreased liver function, Renal cyst |
OMIM:614883 |
| Tibial Aplasia-Ectrodactyly Syndrome |
|
Finger syndactyly, Short femur, Preaxial hand polydactyly, Postaxial hand polydactyly, Split hand... |
ORPHA:3329 |
| X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Short palm, Rhizomelia, Micrognathia, Metaphyseal chondrodysplasia, Abnormality of the calcaneus,... |
ORPHA:163966 |
| Macrocephaly-Intellectual Disability-Autism Syndrome |
|
Intestinal polyposis, Penile freckling, Preaxial hand polydactyly, Foot polydactyly, Lymphoid nod... |
ORPHA:210548 |
| Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome |
|
Mandibular prognathia, Prominent metopic ridge, Tented upper lip vermilion, Tapered finger, Long ... |
ORPHA:521445 |
| Saethre-Chotzen Syndrome |
|
Hypoplasia of the maxilla, Triphalangeal thumb, Clinodactyly of the 5th finger, Conductive hearin... |
ORPHA:794 |
| Intellectual Developmental Disorder, Autosomal Recessive 73 |
|
Clinodactyly of the 5th finger, Patent ductus arteriosus, Ventricular septal defect, Single trans... |
OMIM:619717 |
| Multiple Synostoses Syndrome 1 |
|
Single transverse palmar crease, Symphalangism affecting the phalanges of the hand, Cutaneous fin... |
OMIM:186500 |
| Dyskeratosis Congenita, Autosomal Dominant 2 |
|
Urethral stricture, Short stature, Esophageal stricture, Palmoplantar hyperkeratosis, Premature g... |
OMIM:613989 |
| Hirschsprung Disease-Deafness-Polydactyly Syndrome |
|
Postaxial hand polydactyly, Renal agenesis, Aganglionic megacolon, Foot polydactyly |
ORPHA:2155 |
| X-Linked Mandibulofacial Dysostosis |
|
Short stature, Cryptorchidism, Branchial anomaly, Pulmonic stenosis, Webbed neck, Abnormal mitral... |
ORPHA:1131 |
| Hydrolethalus |
|
Low-set, posteriorly rotated ears, Micromelia, Micrognathia, Cryptorchidism, Postaxial hand polyd... |
ORPHA:2189 |
| Ulna Hypoplasia-Intellectual Disability Syndrome |
|
Hypoplasia of the ulna, Broad hallux phalanx, Micromelia, Metatarsus adductus, Elbow dislocation,... |
ORPHA:2249 |
| Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Single transverse palmar crease, Micromelia, Delayed epiphyseal ossification, Preaxial polydactyl... |
OMIM:210710 |
| Lethal Congenital Contracture Syndrome 10 |
|
Overriding aorta, Ventricular septal defect, Cardiomegaly, Femoral bowing, Short long bone, Talip... |
OMIM:617022 |
| Arthrogryposis, Perthes Disease, And Upward Gaze Palsy |
|
Ventricular septal defect, Overlapping toe, Avascular necrosis of the capital femoral epiphysis, ... |
OMIM:614262 |
| Oculodentodigital Dysplasia |
|
Neurogenic bladder, Abnormal pinna morphology, Selective tooth agenesis, Microdontia, Cleft upper... |
OMIM:164200 |
| Buratti-Harel Syndrome |
|
Posteriorly rotated ears, Broad hallux, Hypospadias, Cryptorchidism, Velopharyngeal insufficiency... |
OMIM:619314 |
| Hemochromatosis, Type 4 |
|
Hepatomegaly, Diabetes mellitus, Impaired glucose tolerance, Increased circulating ferritin conce... |
OMIM:606069 |
| Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome |
|
Atrial septal defect, Abnormality of the hand, Frontal encephalocele, Abnormality of the upper li... |
ORPHA:521308 |
| Three M Syndrome 2 |
|
Delayed eruption of teeth, Scapular winging, Dental malocclusion, Protruding ear, Slender long bo... |
OMIM:612921 |
| Acropectorovertebral Dysplasia |
|
Finger syndactyly, Toe syndactyly, Bifid distal phalanx of the thumb, Capitate-hamate fusion, Sho... |
OMIM:102510 |
| W Syndrome |
|
Hypoplasia of the ulna, Radial bowing, Broad uvula, Elbow dislocation, Metatarsus adductus, Submu... |
ORPHA:2804 |
| Li-Campeau Syndrome |
|
Ventricular septal defect, Single transverse palmar crease, Patent ductus arteriosus, Patellar hy... |
OMIM:619189 |
| Hereditary Sensory And Autonomic Neuropathy Type 2 |
|
Abnormality of the knee, Tapered finger, Foot acroosteolysis, Hyperhidrosis, Abnormal epiphysis m... |
ORPHA:970 |
| Intellectual Developmental Disorder, Autosomal Dominant 23 |
|
Thin upper lip vermilion, Sandal gap, Dental crowding, Postaxial polydactyly, Micrognathia, Hypos... |
OMIM:615761 |
| Osteopathia Striata-Cranial Sclerosis Syndrome |
|
Delayed eruption of teeth, Posteriorly rotated ears, Micrognathia, Large iliac wing, High, narrow... |
ORPHA:2780 |
| Brachydactyly, Coloboma, And Anterior Segment Dysgenesis |
|
Syndactyly, Coloboma, Clinodactyly, Iris coloboma, Brachydactyly |
OMIM:610023 |
| Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly |
|
Postaxial polydactyly, Cryptorchidism, Nephrocalcinosis, Short long bone, Brachydactyly |
OMIM:615633 |
| Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech |
|
Delayed epiphyseal ossification, Rhizo-meso-acromelic limb shortening, Hypoplastic iliac wing, Sh... |
OMIM:611717 |
| Gilbert Syndrome |
|
Elevated hepatic transaminase, Jaundice, Hepatic failure, Unconjugated hyperbilirubinemia |
OMIM:143500 |
| Teebi Hypertelorism Syndrome 1 |
|
Ventricular septal defect, Small hand, Broad palm, Aortic root aneurysm, Pulmonary hypoplasia, At... |
OMIM:145420 |
| Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Accessory spleen, Elevated hepatic transaminase, Portal hypertension, Tapered finger, Cryptorchid... |
OMIM:620005 |
| Fibular Aplasia-Complex Brachydactyly Syndrome |
|
Abnormal morphology of the radius, Brachydactyly, Tarsal synostosis, Micromelia, Aplasia/Hypoplas... |
ORPHA:2639 |
| Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects |
|
Aplasia of the distal phalanx of the 2nd finger, 2-5 finger syndactyly, Syndactyly, Congenital hi... |
OMIM:308050 |
| Neurodevelopmental Disorder With Poor Growth And Skeletal Anomalies |
|
Hallux valgus, Mandibular prognathia, Swan neck-like deformities of the fingers, High, narrow pal... |
OMIM:619880 |
| Septopreoptic Holoprosencephaly |
|
Hypoplasia of the pons, Abnormal midbrain morphology, Ethmoidal encephalocele |
ORPHA:280195 |
| Glycogen Storage Disease Ixa1 |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Splenomegaly, Gr... |
OMIM:306000 |
| Coenzyme Q10 Deficiency, Primary, 8 |
|
Left ventricular hypertrophy, Pulmonary hypoplasia |
OMIM:616733 |
| Beckwith-Wiedemann Syndrome |
|
Ureteral duplication, Neonatal hypoglycemia, Cardiomegaly, Vesicoureteral reflux, Hepatoblastoma,... |
ORPHA:116 |
| Orofaciodigital Syndrome Xiv |
|
Occipital encephalocele, Micrognathia, Epispadias, Preaxial polydactyly, Aplasia of the epiglotti... |
OMIM:615948 |
| Cervical Ribs, Sprengel Anomaly, Anal Atresia, And Urethral Obstruction |
|
Preaxial hand polydactyly, Renal hypoplasia, Hypertrophy of the urinary bladder, Urethral obstruc... |
OMIM:601389 |
| Multiple Epiphyseal Dysplasia Type 4 |
|
Micrognathia, Abnormal hand morphology, Metaphyseal widening, Short metatarsal, Coxa vara, Double... |
ORPHA:93307 |
| Congenital Disorder Of Glycosylation, Type Ia |
|
Elevated hepatic transaminase, Hepatomegaly, Villous atrophy, Proteinuria, Hypothyroidism, Steato... |
OMIM:212065 |
| Pycnodysostosis |
|
Persistent open anterior fontanelle, Aplastic clavicle, Micrognathia, Absent frontal sinuses, Per... |
OMIM:265800 |
| Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies |
|
Delayed eruption of teeth, Hyperextensibility of the finger joints, Congenital hip dislocation, D... |
OMIM:619797 |
| Bardet-Biedl Syndrome 2 |
|
Bicuspid aortic valve, Postaxial hand polydactyly, Dilated cardiomyopathy, Postaxial foot polydac... |
OMIM:615981 |
| Camptobrachydactyly |
|
Syndactyly, Short toe, Hand polydactyly, Congenital finger flexion contractures, Brachydactyly |
OMIM:114150 |
| Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Preaxial polydactyly, Renal cyst, Lobulated tongue, Narrow greater sciatic notch, Short tibia, Un... |
OMIM:616300 |
| Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections |
|
Supernumerary tooth, High palate, Talipes equinovarus, Persistence of primary teeth |
OMIM:619752 |
| 8p23.1 deletion syndrome |
|
Atrial septal defect, Atrioventricular canal defect, Abnormal heart morphology |
DECIPHER:39 |
| Polydactyly, Postaxial, Type A6 |
|
Postaxial foot polydactyly, Postaxial hand polydactyly, Broad phalanges of the 5th finger |
OMIM:615226 |
| Brachydactyly Type B2 |
|
Type B brachydactyly, Finger syndactyly, Short toe, Symphalangism affecting the phalanges of the ... |
ORPHA:140908 |
| Anauxetic Dysplasia 1 |
|
Mandibular prognathia, Hip contracture, Rhizomelia, Hypoplastic ilia, Short toe, Flared metaphysi... |
OMIM:607095 |
| Momo Syndrome |
|
Delayed eruption of teeth, Underfolded helix, Thick lower lip vermilion, Dental malocclusion, Lar... |
OMIM:157980 |
| Orofaciodigital Syndrome V |
|
Thin upper lip vermilion, Median cleft lip, Unilateral cryptorchidism, Sandal gap, Postaxial poly... |
OMIM:174300 |
| Stickler Syndrome, Type Ii |
|
Arthropathy, Arachnodactyly, Micrognathia, Long fingers, Sensorineural hearing impairment, High, ... |
OMIM:604841 |
| Brachydactyly, Type E, With Atrial Septal Defect, Type Ii |
|
Atrial septal defect, Short metatarsal, Type E brachydactyly, Short 4th metacarpal |
OMIM:113301 |
| Platyspondylic Lethal Skeletal Dysplasia, Torrance Type |
|
Radial bowing, Rhizomelia, Dumbbell-shaped long bone, Micromelia, Hypoplastic ilia, Hypoplastic i... |
OMIM:151210 |
| Brachydactyly-Elbow Wrist Dysplasia Syndrome |
|
Brachydactyly, Abnormal distal phalanx morphology of finger, Abnormal morphology of ulna, Elbow d... |
ORPHA:1275 |
| Spinal Muscular Atrophy With Congenital Bone Fractures 1 |
|
Secundum atrial septal defect, Patent ductus arteriosus, Cardiomyopathy, Pulmonary hypoplasia, Pa... |
OMIM:616866 |
| Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Ventricular septal defect, Rocker bottom foot, Coxa valga, Postaxial hand polydactyly, Postaxial ... |
OMIM:301056 |
| Frontometaphyseal Dysplasia |
|
Single transverse palmar crease, Limited elbow movement, Micrognathia, Metaphyseal widening, Shor... |
ORPHA:1826 |
| Brachydactyly-Preaxial Hallux Varus Syndrome |
|
Short metacarpal, Preaxial hand polydactyly, Radial club hand, Short metatarsal, Broad thumb, Bra... |
ORPHA:1278 |
| Ear-Patella-Short Stature Syndrome |
|
Hypoplasia of penis, Micrognathia, Hypoplasia of the maxilla, High, narrow palate, Epispadias, An... |
ORPHA:2554 |
| Weyers Ulnar Ray/Oligodactyly Syndrome |
|
Proximal placement of thumb, Absent thumb, Cleft upper lip, Micrognathia, Hypoplasia of the radiu... |
OMIM:602418 |
| Serkal Syndrome |
|
Ventricular septal defect, Pulmonary hypoplasia, Pulmonic stenosis |
ORPHA:139466 |
| Postaxial Acrofacial Dysostosis |
|
Low-set, posteriorly rotated ears, Hypoplasia of the ulna, Finger syndactyly, Camptodactyly of fi... |
ORPHA:246 |
| Clark-Baraitser syndrome |
|
Exaggerated median tongue furrow, Genu recurvatum, Tapered finger, Thick lower lip vermilion, Bro... |
OMIM:300602 |
| Pycnodysostosis |
|
Obtuse angle of mandible, Persistent open anterior fontanelle, Decreased response to growth hormo... |
ORPHA:763 |
| Bone Dysplasia, Lethal Holmgren Type |
|
Metaphyseal dysplasia, Recurrent respiratory infections, Rhizomelia, Micromelia, Abnormality of t... |
ORPHA:1842 |
| Stevenson-Carey Syndrome |
|
Coloboma, Hip dysplasia, Left superior vena cava draining to coronary sinus, Camptodactyly, Atria... |
OMIM:611961 |
| Thoracoabdominal Syndrome |
|
Patent ductus arteriosus, Hydrocephalus, Anencephaly, Transposition of the great arteries, Pulmon... |
OMIM:313850 |
| Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive |
|
Epiphyseal dysplasia, Mixed hearing impairment, Enlarged joints, Large tarsal bones, Micrognathia... |
OMIM:215150 |
| Trisomy X |
|
Clinodactyly of the 5th finger, Hip dysplasia, Multicystic kidney dysplasia, Renal hypoplasia/apl... |
ORPHA:3375 |
| Ophthalmomandibulomelic Dysplasia |
|
Obtuse angle of mandible, Camptodactyly of finger, Micromelia, Elbow dislocation, Temporomandibul... |
ORPHA:2741 |
| Surfactant Metabolism Dysfunction, Pulmonary, 1 |
|
Desquamative interstitial pneumonitis, Clubbing, Intraalveolar phospholipid accumulation, Absent ... |
OMIM:265120 |
| Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Elevated hepatic transaminase, Recurrent urinary tract infections, Hypoglycemia, Short stature, P... |
OMIM:613658 |
| Orofaciodigital Syndrome Type 6 |
|
Syndactyly, Mesoaxial polydactyly, Renal agenesis, Hamartoma of tongue, Renal hypoplasia/aplasia,... |
ORPHA:2754 |
| Temple-Baraitser Syndrome |
|
Broad hallux, Proximal placement of thumb, Adducted thumb, Broad thumb, Pulmonic stenosis, Atrial... |
OMIM:611816 |
| Syngap1-Related Developmental And Epileptic Encephalopathy |
|
Hypospadias, Postaxial polydactyly, Abnormal tongue physiology, Anteverted ears, Wide mouth, Thin... |
ORPHA:544254 |
| Cantu Syndrome |
|
Bicuspid aortic valve, Cardiomegaly, Pericardial effusion, Lymphedema, Patent ductus arteriosus, ... |
OMIM:239850 |
| 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 |
| Arthrogryposis, Distal, Type 5D |
|
Tongue atrophy, Congenital hip dislocation, Limited elbow movement, Micrognathia, Limited knee fl... |
OMIM:615065 |
| Cenani-Lenz Syndrome |
|
Micromelia, High, narrow palate, Protruding ear, Foot oligodactyly, Short philtrum, Hypothyroidis... |
ORPHA:3258 |
| Pancreatic Colipase Deficiency |
|
Growth delay, Steatorrhea, Cholelithiasis, Fat malabsorption, Exocrine pancreatic insufficiency |
ORPHA:309108 |
| Distal Deletion 10Q |
|
Single transverse palmar crease, Micrognathia, 2-3 toe cutaneous syndactyly, Functional abnormali... |
ORPHA:96148 |
| Trichodentoosseous Syndrome |
|
Microdontia, Taurodontia, Widely spaced teeth |
OMIM:190320 |
| Trigonocephaly-Short Stature-Developmental Delay Syndrome |
|
Low-set, posteriorly rotated ears, Fifth finger distal phalanx clinodactyly, Metopic suture paten... |
ORPHA:3369 |
| Larsen Syndrome |
|
Short metatarsal, Knee dislocation, Conductive hearing impairment, Spina bifida occulta, Vertebra... |
OMIM:150250 |
| Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic |
|
Hepatomegaly, Ketonuria, Hypoglycemia, Elevated circulating alanine aminotransferase concentratio... |
OMIM:261680 |
| Multiple Osteochondromas |
|
Deformed radius, Abnormal hand morphology, Abnormal tibia morphology, Metaphyseal widening, Abnor... |
ORPHA:321 |
| Bardet-Biedl Syndrome 22 |
|
Postaxial foot polydactyly, Polydactyly |
OMIM:617119 |
| Neu-Laxova Syndrome 1 |
|
Micromelia, Calcaneovalgus deformity, Neonatal death, Agenesis of corpus callosum, Patent foramen... |
OMIM:256520 |
| Grant Syndrome |
|
Joint dislocation, Bowing of the long bones, Micrognathia, Open bite, Large fontanelles, Abnormal... |
ORPHA:2097 |
| Aortic Arch Interruption |
|
Bicuspid aortic valve, Ventricular septal defect, Patent ductus arteriosus, Aortic valve atresia,... |
ORPHA:2299 |
| Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome |
|
Postaxial hand polydactyly, Abnormal cardiac septum morphology, Ventricular septal defect, Hydroc... |
ORPHA:83473 |
| Andersen Cardiodysrhythmic Periodic Paralysis |
|
Dental crowding, Micrognathia, Hypoplasia of the maxilla, Short metatarsal, Oligodontia, High pal... |
OMIM:170390 |
| Mucolipidosis Iii Alpha/Beta |
|
Mandibular prognathia, Soft tissue swelling of interphalangeal joints, Craniosynostosis, Irregula... |
OMIM:252600 |
| 3P25.3 Microdeletion Syndrome |
|
Mandibular prognathia, Proximal placement of thumb, Micrognathia, High, narrow palate, Deep philt... |
ORPHA:435638 |
| Momo Syndrome |
|
Delayed eruption of teeth, Underfolded helix, Thick lower lip vermilion, Dental malocclusion, Fem... |
ORPHA:2563 |
| Pde4D Haploinsufficiency Syndrome |
|
Mandibular prognathia, Micrognathia, Hypoplasia of the maxilla, Short metatarsal, Short philtrum,... |
ORPHA:439822 |
| Otospondylomegaepiphyseal Dysplasia |
|
Enlarged joints, Micrognathia, Osteoarthritis, Abnormal iliac wing morphology, Tibial bowing, Abn... |
ORPHA:1427 |
| Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Enlarged joints, Irregular, rachitic-like metaphyses, Flared metaphysis, Elbow flexion contractur... |
OMIM:184252 |
| Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts |
|
Hepatomegaly, Ectopic kidney, Cryptorchidism, Neonatal death, Cystic renal dysplasia |
OMIM:613730 |
| Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy |
|
Proteinuria, Camptodactyly of finger, Micrognathia, Wrist swelling, Downturned corners of mouth, ... |
ORPHA:2774 |
| Li-Ghorbani-Weisz-Hubshman Syndrome |
|
Atrial septal defect, Ventricular septal defect, Overlapping toe, Patent ductus arteriosus, Clino... |
OMIM:618974 |
| 9Q21.13 Microdeletion Syndrome |
|
Craniosynostosis, Cryptorchidism, Abnormal tongue morphology, Downturned corners of mouth, Hip dy... |
ORPHA:531151 |
| Acromesomelic Dysplasia 3 |
|
Carpal synostosis, Hypoplasia of the ulna, Brachydactyly, Tarsal synostosis, Elevated circulating... |
OMIM:609441 |
| 15Q24 Microdeletion Syndrome |
|
Proximal placement of thumb, Abnormal thumb morphology, Abnormal toe morphology, Myelomeningocele... |
ORPHA:94065 |
| Orofaciodigital Syndrome Type 14 |
|
Low-set, posteriorly rotated ears, Microretrognathia, Broad hallux, Deviation of the hallux, Acce... |
ORPHA:434179 |
| Cardiomyopathy, Familial Hypertrophic, 4 |
|
Ventricular hypertrophy, Cardiomegaly, Pericardial effusion, Muscular ventricular septal defect, ... |
OMIM:115197 |
| Congenital Unilateral Hypoplasia Of Depressor Anguli Oris |
|
Ventricular septal defect, Abnormal aortic morphology, Abnormal hip bone morphology, Tetralogy of... |
ORPHA:1166 |
| Grange Syndrome |
|
Syndactyly, Ventricular septal defect, Patent ductus arteriosus, Arterial stenosis, Short palm |
ORPHA:79094 |
| Genitopatellar Syndrome |
|
Hip contracture, Hypoplastic ilia, Patellar aplasia, Radioulnar synostosis, Talipes equinovarus, ... |
ORPHA:85201 |
| 8Q24.3 Microdeletion Syndrome |
|
Branchial cyst, Congenital hip dislocation, Single transverse palmar crease, Micromelia, Abnormal... |
ORPHA:508488 |
| Trichodermodysplasia-Dental Alterations Syndrome |
|
Delayed eruption of teeth, Abnormal dental morphology, Supernumerary tooth, Tooth agenesis, Palmo... |
ORPHA:3353 |
| Tooth Agenesis, Selective, 7 |
|
Taurodontia, Agenesis of permanent teeth |
OMIM:616724 |
| Branchiogenic-Deafness Syndrome |
|
Branchial cyst, Branchial fistula, Mixed hearing impairment, Abnormality of the middle ear ossicl... |
OMIM:609166 |
| Autosomal Erythropoietic Protoporphyria |
|
Abnormal circulating porphyrin concentration, Cholelithiasis, Decreased liver function, Cirrhosis |
ORPHA:79278 |
| Van Maldergem Syndrome 2 |
|
Irregular dentition, Short fourth metatarsal, Tented upper lip vermilion, Micrognathia, Hypoplasi... |
OMIM:615546 |
| Chromosome 17Q12 Duplication Syndrome |
|
Cleft soft palate, Micrognathia, Esophageal atresia, Broad thumb, Smooth philtrum, Brachydactyly |
OMIM:614526 |
| Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension |
|
Wide capital femoral epiphyses, Short femur, Sandal gap, Tarsal synostosis, Micrognathia, Flat ca... |
OMIM:147891 |
| Limb-Mammary Syndrome |
|
Syndactyly, Absent nipple, Toe syndactyly, Submucous cleft soft palate, Cleft hard palate, Cleft ... |
ORPHA:69085 |
| Mesomelic Dysplasia, Kantaputra Type |
|
Camptodactyly of finger, Tarsal synostosis, Abnormality of the humerus, Abnormal fibula morpholog... |
ORPHA:1836 |
| Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull |
|
Clinodactyly of the 5th finger, Syndactyly, Toe syndactyly, Pulmonary hypoplasia |
OMIM:601163 |
| Congenital Vertical Talus |
|
Lower extremity joint dislocation, Myelomeningocele, Rocker bottom foot, Equinus calcaneus |
ORPHA:178382 |
| Mckusick-Kaufman Syndrome |
|
Urethral stricture, Finger syndactyly, Multicystic kidney dysplasia, Aganglionic megacolon, Tarsa... |
ORPHA:2473 |
| Hemihyperplasia, Isolated |
|
Myelomeningocele |
OMIM:235000 |
| Acrocapitofemoral Dysplasia |
|
Micromelia, Short proximal phalanx of thumb, Coxa vara, Hypoplastic iliac wing, Short palm, Short... |
OMIM:607778 |
| Epiphyseal Dysplasia, Baumann Type |
|
Carpal bone aplasia, Epiphyseal dysplasia, Hypoplasia of the femoral head, Long fingers, Aplasia ... |
OMIM:610797 |
| Combined Immunodeficiency-Enteropathy Spectrum |
|
Absent eyebrow, Intestinal malrotation, Hepatitis, Intestinal atresia, Hypoplasia of the thymus, ... |
ORPHA:436252 |
| Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
|
Thin upper lip vermilion, Intestinal malrotation, Postaxial polydactyly, Micrognathia, Cryptorchi... |
ORPHA:404440 |
| Joubert Syndrome 25 |
|
Molar tooth sign on MRI |
OMIM:616781 |
| Schilbach-Rott Syndrome |
|
Posteriorly rotated ears, Hypospadias, Micrognathia, 2-3 toe cutaneous syndactyly, Submucous clef... |
OMIM:164220 |
| Mental Retardation, Microcephaly, Growth Retardation, Joint Contractures, And Facial Dysmorphism |
|
Preaxial hand polydactyly, Interphalangeal joint contracture of finger |
OMIM:606242 |
| Seckel Syndrome 10 |
|
Acute pancreatitis, Diabetes mellitus, Impaired glucose tolerance, Elevated circulating aspartate... |
OMIM:617253 |
| 14Q11.2 Microdeletion Syndrome |
|
Patent ductus arteriosus, Toe syndactyly, Ventricular septal defect, Toe clinodactyly |
ORPHA:261120 |
| Joubert Syndrome 1 |
|
Highly arched eyebrow, Protruding tongue, Postaxial hand polydactyly, Renal cyst, Postaxial foot ... |
OMIM:213300 |
| Isotretinoin-Like Syndrome |
|
Bicuspid aortic valve, Abnormal cardiac ventricle morphology, Patent ductus arteriosus, Hydroceph... |
ORPHA:2306 |
| Atelosteogenesis Type Ii |
|
Micromelia, Short phalanx of finger, Broad metacarpals, Ulnar deviation of the hand or of fingers... |
ORPHA:56304 |
| Oligomeganephronia |
|
Branchial cyst, Pulmonary venous occlusion, Secundum atrial septal defect, Optic disc coloboma, P... |
ORPHA:2260 |
| Endocardial Fibroelastosis |
|
Hypoplasia of penis, Sandal gap, Hypoglycemia, Cryptorchidism, Anterior hypopituitarism |
ORPHA:2022 |
| Hypothyroidism, Congenital, Nongoitrous, 6 |
|
Delayed eruption of teeth, Congenital hip dislocation, Increased T3/T4 ratio, Congenital hypothyr... |
OMIM:614450 |
| Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Occipital encephalocele, Bowing of the long bones, Micromelia, Short long bone, Talipes equinovar... |
OMIM:224410 |
| Oculodentodigital Dysplasia, Autosomal Recessive |
|
Dental crowding, Micrognathia, Hypoplasia of the maxilla, Hypoplasia of the primary teeth, 4-5 fi... |
OMIM:257850 |
| Carnitine Palmitoyltransferase I Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Dicarboxylic aciduria, Elevated circulating creatine... |
OMIM:255120 |
| Multicentric Osteolysis, Nodulosis, And Arthropathy |
|
Micrognathia, Hypoplasia of the maxilla, Metaphyseal widening, Metatarsal osteolysis, Camptodacty... |
OMIM:259600 |
| Dyssegmental Dysplasia, Rolland-Desbuquois Type |
|
Encephalocele, Bowing of the long bones, Broad long bones, Micromelia, Micrognathia, Metaphyseal ... |
OMIM:224400 |
| Chromosome 1Q41-Q42 Deletion Syndrome |
|
Ventricular septal defect, Sandal gap, 3-4 finger cutaneous syndactyly, Holoprosencephaly, Talipe... |
OMIM:612530 |
| Multisystemic Smooth Muscle Dysfunction Syndrome |
|
Aortic arch aneurysm, Thoracic aortic aneurysm, Brachiocephalic artery aneurysm, Patent ductus ar... |
OMIM:613834 |
| Dyggve-Melchior-Clausen Disease |
|
Mandibular prognathia, Metaphyseal widening, Flat glenoid fossa, Short metatarsal, Tibial bowing,... |
OMIM:223800 |
| Feingold Syndrome 1 |
|
Micrognathia, Asplenia, High palate, Accessory spleen, Short thumb, Short toe, Esophageal atresia... |
OMIM:164280 |
| Dyggve-Melchior-Clausen Disease |
|
Glenoid fossa hypoplasia, Coxa vara, Rhizomelia, Iliac crest serration, Limited knee extension, W... |
ORPHA:239 |
| Achondrogenesis Type 2 |
|
Micromelia, Hypoplastic ilia, Delayed proximal femoral epiphyseal ossification, Short long bone, ... |
ORPHA:93296 |
| Supravalvular Aortic Stenosis |
|
Pulmonary artery stenosis, Peripheral arterial stenosis, Pulmonic stenosis |
OMIM:185500 |
| Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Syndactyly, Ventricular septal defect, Polydactyly, Hydrocephalus |
OMIM:602501 |
| Bone Marrow Failure Syndrome 3 |
|
Metaphyseal dysplasia, Congenital hip dislocation, Hearing impairment, Micrognathia, Pancreatic s... |
OMIM:617052 |
| Ophthalmoplegia, External, And Myopia |
|
Spina bifida |
OMIM:311000 |
| Mmep Syndrome |
|
Split foot, Ventricular septal defect, Triphalangeal thumb |
ORPHA:3434 |
| 46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs |
|
Ventricular septal defect, Pulmonary artery stenosis, Bilateral lung agenesis, Congenital pulmona... |
OMIM:611812 |
| Gallbladder Disease 4 |
|
Cholelithiasis |
OMIM:611465 |
| Hypogonadotropic Hypogonadism 26 With Or Without Anosmia |
|
Hypospadias, Diastema, Cryptorchidism, Supernumerary tooth, Agenesis of molar, Microdontia, Micro... |
OMIM:619718 |
| Alg9-Cdg |
|
Villous atrophy, Narrow greater sciatic notch, Bifid uvula, Hepatomegaly, Rhizomelia, Broad ischi... |
ORPHA:79328 |
| Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Occipital encephalocele, Olivopontocerebellar hypoplasia, Hypoplasia of the pons, Hydrocephalus, ... |
ORPHA:370959 |
| Symphalangism, Proximal, 1A |
|
Carpal synostosis, Stapes ankylosis, Tarsal synostosis, Aplasia/Hypoplasia of the middle phalange... |
OMIM:185800 |
| Carpenter Syndrome 1 |
|
Duplication of the proximal phalanx of the hallux, Atrial septal defect, Clinodactyly of the 5th ... |
OMIM:201000 |
| Bardet-Biedl Syndrome 9 |
|
Syndactyly, Postaxial polydactyly, Postaxial hand polydactyly, Postaxial foot polydactyly, Polyda... |
OMIM:615986 |
| Split-Hand/Foot Malformation 2 |
|
Finger syndactyly, Short metacarpal, Split hand, Split foot, Short phalanx of finger |
OMIM:313350 |
| Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 2 |
|
Single transverse palmar crease, Adducted thumb, Hydrocele testis, Notched primary central inciso... |
OMIM:620062 |
| Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome |
|
Atrial septal defect, Pulmonary artery stenosis, Postaxial hand polydactyly, Ventricular septal d... |
ORPHA:75389 |
| Autosomal Recessive Amelia |
|
Amelia involving the upper limbs, Abnormal cardiac septum morphology, Acromelia of the lower limb... |
ORPHA:1027 |
| Tracheal Agenesis |
|
Aplasia/Hypoplasia of the lungs, Abnormal cardiac septum morphology |
ORPHA:3346 |
| Ackerman Syndrome |
|
Taurodontia, Broad philtrum |
OMIM:200970 |
| Diamond-Blackfan Anemia 16 |
|
Atrial septal defect, Pulmonic stenosis |
OMIM:617408 |
| Cholestasis, Progressive Familial Intrahepatic, 9 |
|
Hepatomegaly, Malformation of the hepatic ductal plate, Portal hypertension, Intrahepatic cholest... |
OMIM:619849 |
| Seckel Syndrome 9 |
|
Recurrent respiratory infections, Ventricular septal defect, Pulmonary artery hypoplasia, Talipes... |
OMIM:616777 |
| Microcephaly-Cardiomyopathy Syndrome |
|
Clinodactyly of the 5th finger, Ventricular septal defect, Dilated cardiomyopathy, Sandal gap |
ORPHA:2515 |
| Congenital Disorder Of Glycosylation, Type Iil |
|
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ... |
OMIM:614576 |
| Ruvalcaba Syndrome |
|
Short metacarpal, Brachydactyly, Dental crowding, Proximal placement of thumb, Micromelia, Crypto... |
ORPHA:3121 |
| Duodenal Atresia |
|
Abnormality of the pancreas, Annular pancreas |
ORPHA:1203 |
| Mitochondrial Dna Depletion Syndrome 4A (Alpers Type) |
|
Acute hepatic failure, Elevated hepatic transaminase, Hepatomegaly, Aciduria, Microvesicular hepa... |
OMIM:203700 |
| Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation |
|
Atrial septal defect, Ventricular septal defect |
OMIM:608227 |
| Chromosome 2P16.1-P15 Deletion Syndrome |
|
Thin upper lip vermilion, Posteriorly rotated ears, Arachnodactyly, Metatarsus adductus, Cryptorc... |
OMIM:612513 |
| Diaphragmatic Hernia 4, With Cardiovascular Defects |
|
Finger syndactyly, Ventricular septal defect, Aortopulmonary collateral arteries, 2-3 toe syndact... |
OMIM:620025 |
| Congenital Heart Defects, Multiple Types, 3 |
|
Atrial septal defect, Tetralogy of Fallot, Persistent left superior vena cava, Abnormal heart mor... |
OMIM:614954 |
| Solitary Bone Cyst |
|
Abnormal tibia morphology, Abnormal pubic bone morphology, Proximal femoral metaphyseal abnormali... |
ORPHA:83468 |
| Prune Belly Syndrome |
|
Multicystic kidney dysplasia, Congenital hip dislocation, Renal insufficiency, Hydroureter, Intes... |
ORPHA:2970 |
| Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Abnormal lung lobation, Narrow greater sciatic notch, Short palm, Atrial septal defect, Agenesis ... |
OMIM:312870 |
| Acromesomelic Dysplasia 2A |
|
Hypoplasia of the ulna, Short humerus, Short femur, Aplasia/Hypoplasia of the patella, Postaxial ... |
OMIM:200700 |
| Protoporphyria, Erythropoietic, 1 |
|
Cholelithiasis, Hypertriglyceridemia, Hepatic failure |
OMIM:177000 |
| Joubert Syndrome 23 |
|
Dysplastic corpus callosum, Coloboma |
OMIM:616490 |
| Cardiac Valvular Dysplasia 1 |
|
Ventricular septal defect, Left atrial enlargement, Tricuspid stenosis, Valvular pulmonary stenos... |
OMIM:212093 |
| Thanatophoric Dysplasia Type 1 |
|
Bowing of the long bones, Short femur, Micromelia, Hypoplastic ilia, Abnormal sacroiliac joint mo... |
ORPHA:1860 |
| Orofaciodigital Syndrome Type 4 |
|
Joint dislocation, Abnormal oral mucosa morphology, Micromelia, Micrognathia, High, narrow palate... |
ORPHA:2753 |
| Anemia, Congenital Dyserythropoietic, Type Ii |
|
Splenomegaly, Jaundice, Cholelithiasis, Reduced level of N-acetylglucosaminyltransferase II |
OMIM:224100 |
| Triploidy |
|
Low-set, posteriorly rotated ears, Hepatomegaly, Finger syndactyly, Hypoplasia of penis, Hypospad... |
ORPHA:3376 |
| Familial Adenomatous Polyposis |
|
Duodenal polyposis, Multiple gastric polyps, Eruption failure, Adenocarcinoma of the small intest... |
ORPHA:733 |
| Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Elevated hepatic transaminase, Hepatomegaly, Hyperphosphaturia, Diabetes mellitus, Hypoglycemia, ... |
OMIM:616026 |
| Steroid Dehydrogenase Deficiency-Dental Anomalies Syndrome |
|
Supernumerary tooth, Abnormal dental enamel morphology, Enamel hypoplasia |
ORPHA:3196 |
| Joubert Syndrome 39 |
|
Molar tooth sign on MRI, Occipital encephalocele, Joint contracture of the 5th finger, Postaxial ... |
OMIM:619562 |
| Tarp Syndrome |
|
Single transverse palmar crease, Micrognathia, Glossoptosis, High palate, Deep palmar crease, Mic... |
OMIM:311900 |
| Contractures-Developmental Delay-Pierre Robin Syndrome |
|
Arachnodactyly, Overlapping toe, Metatarsus adductus, Short thumb, Abnormal finger morphology, Ra... |
ORPHA:436003 |
| Terminal Osseous Dysplasia-Pigmentary Defects Syndrome |
|
Syndactyly, Osteolysis involving bones of the upper limbs, Osteolysis involving bones of the lowe... |
ORPHA:88630 |
| Orofaciodigital Syndrome Vi |
|
Micrognathia, Tibial bowing, Lobulated tongue, High palate, Conductive hearing impairment, Access... |
OMIM:277170 |
| Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Short tubular bones of the hand, Delayed epiphyseal ossification, Metaphyseal widening, Short met... |
ORPHA:93314 |
| Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects |
|
Stapes ankylosis, Syndactyly, Thin upper lip vermilion, Single transverse palmar crease, Intestin... |
OMIM:614701 |
| Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Ectopic kidney, High, narrow palate, Dermatoglyphic ridges abnormal, Glucose intolerance, Inflamm... |
ORPHA:99413 |
| Mosaic Monosomy X |
|
Ectopic kidney, High, narrow palate, Dermatoglyphic ridges abnormal, Glucose intolerance, Inflamm... |
ORPHA:99228 |
| Monosomy X |
|
Ectopic kidney, High, narrow palate, Dermatoglyphic ridges abnormal, Glucose intolerance, Inflamm... |
ORPHA:99226 |
| Turner Syndrome |
|
Ectopic kidney, High, narrow palate, Dermatoglyphic ridges abnormal, Glucose intolerance, Inflamm... |
ORPHA:881 |
| Potocki-Shaffer syndrome |
|
Delayed cranial suture closure |
DECIPHER:34 |
| Pelger-Huet Anomaly |
|
Abnormality of the dentition, Upper limb undergrowth, Gingival overgrowth, Polydactyly, Short 3rd... |
OMIM:169400 |
| Larsen-Like Syndrome, Lethal Type |
|
Neonatal death, Pulmonary hypoplasia |
OMIM:245650 |
| Combined Oxidative Phosphorylation Deficiency 47 |
|
Elevated hepatic transaminase, Hepatomegaly, Toe syndactyly, Hypoglycemia, Cryptorchidism, Cone-s... |
OMIM:618958 |
| Rothmund-Thomson Syndrome |
|
Delayed eruption of teeth, Hypoplasia of the ulna, Selective tooth agenesis, Abnormal dental enam... |
ORPHA:2909 |
| 3Mc Syndrome 3 |
|
Cryptorchidism, Clinodactyly, Preaxial polydactyly, Cleft palate, Horseshoe kidney, Radioulnar sy... |
OMIM:248340 |
| Dysostosis, Stanescu Type |
|
Bowing of the long bones, Persistent open anterior fontanelle, Wormian bones, Abnormal dental ena... |
ORPHA:1798 |
| Mosaic Trisomy 9 |
|
Hypoplasia of penis, Rocker bottom foot, Micromelia, Camptodactyly of finger, Elbow dislocation, ... |
ORPHA:99776 |
| Peutz-Jeghers Syndrome |
|
Melanonychia, Pancreatic adenocarcinoma, Intestinal obstruction, Biliary tract neoplasm, Enlarged... |
ORPHA:2869 |
| Muenke Syndrome |
|
Tarsal synostosis, High, narrow palate, Sensorineural hearing impairment, Cone-shaped epiphysis, ... |
ORPHA:53271 |
| Branchiogenic Deafness Syndrome |
|
Branchial cyst, Branchial fistula, Mixed hearing impairment, Abnormal pinna morphology, Abnormali... |
ORPHA:50815 |
| Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia |
|
Upper limb undergrowth, Short foot, Toe clinodactyly, Wormian bones, Dentinogenesis imperfecta |
ORPHA:166277 |
| Classical-Like Ehlers-Danlos Syndrome Type 2 |
|
Joint dislocation, Equinus calcaneus, Micrognathia, Knee dislocation, Shoulder dislocation, High ... |
ORPHA:536532 |
| Acromesomelic Dysplasia, Grebe Type |
|
Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Brachydactyly, Tarsal synostosis, Micr... |
ORPHA:2098 |
| Trisomy 4P |
|
Hypospadias, Camptodactyly of finger, Preaxial hand polydactyly, Cryptorchidism, Radial club hand |
ORPHA:1738 |
| Osteogenesis Imperfecta, Type Xxii |
|
Bowing of the long bones, Slender long bone, Wormian bones, Pseudoarthrosis, Dentinogenesis imper... |
OMIM:619795 |
| Joubert Syndrome 4 |
|
Molar tooth sign on MRI, Elongated superior cerebellar peduncle, Thickened superior cerebellar pe... |
OMIM:609583 |
| Pyruvate Carboxylase Deficiency |
|
Increased serum pyruvate, Hepatomegaly, Hypoglycemia, Proximal renal tubular acidosis, Hyperalani... |
OMIM:266150 |
| Fibrochondrogenesis 1 |
|
Narrow greater sciatic notch, Short palm, Clinodactyly of the 5th finger, Widely patent sagittal ... |
OMIM:228520 |
| Robinow Syndrome, Autosomal Recessive 1 |
|
Tented upper lip vermilion, Dental crowding, Micrognathia, Nephrocalcinosis, Short palm, Micropen... |
OMIM:268310 |
| Congenital Myopathy 11 |
|
Atrial septal defect, Patent ductus arteriosus, Patent foramen ovale |
OMIM:619967 |
| Linear Skin Defects With Multiple Congenital Anomalies 2 |
|
Ventricular hypertrophy, Sandal gap, Atrial septal defect, Tetralogy of Fallot, Agenesis of corpu... |
OMIM:300887 |
| Chromosome 15Q14 Deletion Syndrome |
|
Atrial septal defect, Recurrent viral upper respiratory tract infections, Ventricular septal defect |
OMIM:616898 |
| Cranioectodermal Dysplasia 3 |
|
Rhizomelia, Sandal gap, Postaxial polydactyly, Sagittal craniosynostosis, 2-4 toe syndactyly, Mic... |
OMIM:614099 |
| Congenital Rubella Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Atrial septal defect, Abnormal metaphysis mo... |
ORPHA:290 |
| Renal Dysplasia |
|
Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure... |
ORPHA:93108 |
| Citrullinemia, Type Ii, Neonatal-Onset |
|
Decreased HDL cholesterol concentration, Conjugated hyperbilirubinemia, Microvesicular hepatic st... |
OMIM:605814 |
| Femoral-Facial Syndrome |
|
Short fourth metatarsal, Limited elbow movement, Maternal diabetes, Micropenis, Short stature, Cr... |
OMIM:134780 |
| Neural Tube Defects, Susceptibility To |
|
Spina bifida occulta, Hydrocephalus, Myelomeningocele, Anencephaly |
OMIM:182940 |
| Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type |
|
Short metacarpal, Short fourth metatarsal, Overlapping toe, Tented upper lip vermilion, Craniosyn... |
OMIM:616723 |
| Cystic Hamartoma Of Lung And Kidney |
|
Multicystic kidney dysplasia |
ORPHA:2111 |
| Sweeney-Cox Syndrome |
|
Uplifted earlobe, Micrognathia, Asplenia, Bilateral cryptorchidism, High palate, Short philtrum, ... |
OMIM:617746 |
| Neurodevelopmental Disorder With Dysmorphic Facies And Distal Skeletal Anomalies |
|
Hallux valgus, Broad hallux, Tapered finger, Long fingers, Short toe, Patent ductus arteriosus, 2... |
OMIM:618659 |
| Peroxisome Biogenesis Disorder 4A (Zellweger) |
|
Epiphyseal stippling, Renal cyst, Increased circulating very long-chain fatty acid concentration,... |
OMIM:614862 |
| Rabson-Mendenhall Syndrome |
|
Fasting hyperinsulinemia, Low anterior hairline, Premature graying of hair, Nephrocalcinosis, Hig... |
ORPHA:769 |
| Bardet-Biedl Syndrome 8 |
|
Hypospadias, Renal dysplasia, Postaxial polydactyly |
OMIM:615985 |
| Paternal Uniparental Disomy Of Chromosome 1 |
|
Anhidrosis, Membranoproliferative glomerulonephritis, Proteinuria, Hypercalcemia, Short stature, ... |
ORPHA:251004 |
| Jackson-Weiss Syndrome |
|
Broad hallux phalanx, Toe syndactyly, Short metatarsal, 2-3 toe syndactyly, Symphalangism affecti... |
ORPHA:1540 |
| Faciocardiomelic Syndrome |
|
Slender long bone, Common atrium, Polydactyly, Hypoplastic pelvis |
OMIM:612731 |
| Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Nonimmune hydrops fetalis, Pericardial effusion, Endocardial fibroelastosis, Restrictive cardiomy... |
OMIM:619313 |
| Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome |
|
Bowing of the long bones, Radial bowing, Aqueductal stenosis, Abnormal fibula morphology, Tibial ... |
ORPHA:3035 |
| Brachydactyly-Arterial Hypertension Syndrome |
|
Short metacarpal, Short phalanx of finger, Brachydactyly |
ORPHA:1276 |
| Keutel Syndrome |
|
Recurrent respiratory infections, Ventricular septal defect, Pulmonary artery stenosis, Recurrent... |
ORPHA:85202 |
| Thoraco-Abdominal Enteric Duplication |
|
Meningocele, Abnormal tricuspid valve morphology, Dextrocardia |
ORPHA:1759 |
| Microcephaly-Micromelia Syndrome |
|
Micromelia, Absent thumb, Absent radius, Aqueductal stenosis, Humeroradial synostosis, Forearm un... |
OMIM:251230 |
| Cardiospondylocarpofacial Syndrome |
|
High, narrow palate, Short palm, Conductive hearing impairment, Failure of eruption of permanent ... |
ORPHA:3238 |
| Hyperparathyroidism, Transient Neonatal |
|
Hyperparathyroidism, Short femur, Metaphyseal spurs, Unilateral renal agenesis, Femoral bowing, O... |
OMIM:618188 |
| Abruzzo-Erickson Syndrome |
|
Coloboma |
OMIM:302905 |
| Joubert Syndrome 30 |
|
Molar tooth sign on MRI, Postaxial hand polydactyly |
OMIM:617622 |
| Septooptic Dysplasia |
|
Anterior pituitary hypoplasia, Polydactyly, Decreased response to growth hormone stimulation test... |
OMIM:182230 |
| Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
|
Decreased response to growth hormone stimulation test, Protruding ear, Widely spaced teeth, Micro... |
ORPHA:268261 |
| Melnick-Needles Syndrome |
|
Delayed eruption of teeth, Craniofacial hyperostosis, Bowing of the long bones, Hearing impairmen... |
ORPHA:2484 |
| Cerebrocostomandibular Syndrome |
|
Congenital hip dislocation, Micrognathia, Ectopic kidney, Renal cyst, Anteriorly placed anus, Glo... |
OMIM:117650 |
| Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type |
|
Wormian bones, Shortening of all metacarpals, Wide anterior fontanel, Shortening of all phalanges... |
OMIM:601356 |
| Xk Aprosencephaly Syndrome |
|
Atrial septal defect, Abnormal morphology of the radius, Ventricular septal defect |
ORPHA:3469 |
| Duplication Of The Pituitary Gland |
|
Encephalocele, Supernumerary tooth, Abnormal pituitary gland morphology, Abnormality of the tongu... |
ORPHA:314621 |
| Diamond-Blackfan Anemia 6 |
|
Ventricular hypertrophy, Ventricular septal defect, Short thumb, Patent ductus arteriosus, Mitral... |
OMIM:612561 |
| Pancreas, Annular |
|
Annular pancreas |
OMIM:167750 |
| Annular Pancreas |
|
Annular pancreas |
ORPHA:675 |
| Medullary Thyroid Carcinoma |
|
Primary hyperparathyroidism, Hyperhidrosis, Abnormal liver parenchyma morphology, Pheochromocytom... |
ORPHA:1332 |
| 8P23.1 Duplication Syndrome |
|
Toe syndactyly, Ventricular septal defect, Tetralogy of Fallot, Pulmonic stenosis |
ORPHA:251076 |
| Intellectual Developmental Disorder, Autosomal Recessive 79 |
|
Ventricular septal defect, Short hallux, Long fingers, Clinodactyly of the 5th finger, Slender fi... |
OMIM:620393 |
| Weaver Syndrome |
|
Mandibular prognathia, Short fourth metatarsal, Single transverse palmar crease, Calcaneovalgus d... |
OMIM:277590 |
| 22Q11.2 Deletion Syndrome |
|
Abnormal lung lobation, Abnormal aortic arch morphology, Atrial septal defect, Arachnodactyly, Sp... |
ORPHA:567 |
| Joubert Syndrome 14 |
|
Encephalocele, Ventricular septal defect, Postaxial polydactyly, Hydrocephalus, Meningocele, Intr... |
OMIM:614424 |
| Osteogenesis Imperfecta, Type V |
|
Hyperextensibility of the finger joints, Abnormal pelvic girdle bone morphology, Wormian bones, A... |
OMIM:610967 |
| Bile Acid Synthesis Defect, Congenital, 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Conjugated hyperbilirubinemia,... |
OMIM:607765 |
| Marden-Walker Syndrome |
|
Arachnodactyly, Dextrocardia, Radioulnar synostosis, Talipes equinovarus, Pulmonary hypoplasia, C... |
OMIM:248700 |
| Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness |
|
Metaphyseal dysplasia, Brachydactyly, Irregular iliac crest, Metaphyseal widening, Flat glenoid f... |
OMIM:250420 |
| 2Q31.1 Microdeletion Syndrome |
|
Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Sandal gap, Abnormal morphology of ulna,... |
ORPHA:251014 |
| Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Proteinuria, Abnormal circulating fatty-acid concent... |
ORPHA:263455 |
| Summitt Syndrome |
|
Finger syndactyly, Prominent metopic ridge, Camptodactyly of finger, Craniosynostosis, Genu valgu... |
ORPHA:3210 |
| Diaphanospondylodysostosis |
|
Narrow pelvis bone, Multiple renal cysts, Cleft palate |
ORPHA:66637 |
| Acalvaria |
|
Hydrocephalus, Holoprosencephaly, Spina bifida |
ORPHA:945 |
| Vitamin D-Dependent Rickets, Type 2A |
|
Delayed eruption of teeth, Bulging epiphyses, Enlargement of the ankles, Bowing of the legs, Subp... |
OMIM:277440 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 11 |
|
Hypoglycemia, Pancreatitis, Hyperammonemia |
OMIM:620137 |
| 3C Syndrome |
|
Finger syndactyly, Recurrent respiratory infections, Ventricular septal defect, Abnormal mitral v... |
ORPHA:7 |
| Tarp Syndrome |
|
Single transverse palmar crease, Micrognathia, Glossoptosis, Small earlobe, Low-set, posteriorly ... |
ORPHA:2886 |
| Dyskeratosis Congenita |
|
Hypoplasia of the maxilla, Hyperhidrosis, Periodontitis, Hepatomegaly, Abnormal testis morphology... |
ORPHA:1775 |
| Orofacial Cleft 15 |
|
Agenesis of lateral incisor, Bilateral cleft palate, Single transverse palmar crease, Bilateral c... |
OMIM:616788 |
| Van Maldergem Syndrome 1 |
|
Irregular dentition, Short fourth metatarsal, Tented upper lip vermilion, Micrognathia, Hypoplasi... |
OMIM:601390 |
| Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome |
|
Overlapping toe, Proximal placement of thumb, Tapered finger, Patent ductus arteriosus, Abnormal ... |
ORPHA:487796 |
| Recombinant Chromosome 8 Syndrome |
|
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Tetralogy of Fallot, P... |
OMIM:179613 |
| 8P23.1 Microdeletion Syndrome |
|
Broad hallux phalanx, Proximal placement of thumb, Tapered finger, Patent ductus arteriosus, Pulm... |
ORPHA:251071 |
| Lowry-Maclean Syndrome |
|
Hypospadias, Single transverse palmar crease, Craniosynostosis, Micrognathia, Bilateral cryptorch... |
ORPHA:2409 |
| Preaxial Polydactyly-Colobomata-Intellectual Disability Syndrome |
|
Preaxial polydactyly |
ORPHA:2921 |
| Cardiac, Facial, And Digital Anomalies With Developmental Delay |
|
Mitral atresia, Patent ductus arteriosus, Double outlet right ventricle, Supravalvar pulmonary st... |
OMIM:618164 |
| Combined Oxidative Phosphorylation Deficiency 34 |
|
Hepatomegaly, Hypoglycemia, Primary adrenal insufficiency, Elevated circulating creatinine concen... |
OMIM:617872 |
| Pseudotrisomy 13 Syndrome |
|
Encephalocele, Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, P... |
OMIM:264480 |
| Severe X-Linked Intellectual Disability, Gustavson Type |
|
Congenital hip dislocation, Abnormal pinna morphology, Rocker bottom foot, Micrognathia, Calcaneo... |
ORPHA:3078 |
| Multiple Pterygium Syndrome, X-Linked |
|
Pulmonary hypoplasia, Hypoplastic heart, Short finger |
OMIM:312150 |
| Phelan-Mcdermid Syndrome |
|
Abnormality of the kidney, 2-3 toe syndactyly, Vesicoureteral reflux, Hypohidrosis, Large hands, ... |
OMIM:606232 |
| Pearson Syndrome |
|
Decreased response to growth hormone stimulation test, Renal cyst, Abnormality of the liver, Hypo... |
ORPHA:699 |
| Pallister-Hall Syndrome |
|
Thyroid dysgenesis, Decreased circulating cortisol level, Decreased response to growth hormone st... |
OMIM:146510 |
| Blepharophimosis-Intellectual Disability Syndrome, Verloes Type |
|
Posteriorly rotated ears, Cleft soft palate, Underdeveloped antitragus, Abnormal preputium morpho... |
ORPHA:293725 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 1 |
|
Elevated hepatic transaminase, Hypertyrosinemia, Brittle hair, Hypoglycemia, Cholangitis, Microve... |
OMIM:124000 |
| Genitopalatocardiac Syndrome |
|
Cleft palate, Hypospadias, Renal cyst |
OMIM:231060 |
| Vacterl/Vater Association |
|
Finger syndactyly, Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Renal agenesis... |
ORPHA:887 |
| Schneckenbecken Dysplasia |
|
Hypoplastic scapulae, Dumbbell-shaped long bone, Snail-like ilia, Flat acetabular roof, Advanced ... |
OMIM:269250 |
| Jeune Syndrome |
|
Toe syndactyly, Micromelia, Postaxial hand polydactyly, Postaxial foot polydactyly, Cone-shaped e... |
ORPHA:474 |
| Waardenburg Syndrome Type 3 |
|
Camptodactyly of finger, Atelectasis, Abnormal finger morphology, Cutaneous finger syndactyly, Ab... |
ORPHA:896 |
| Acrocallosal Syndrome |
|
Mandibular prognathia, Downturned corners of mouth, High palate, Short philtrum, Clinodactyly of ... |
OMIM:200990 |
| Farber Disease |
|
Elevated hepatic transaminase, Intrahepatic cholestasis with episodic jaundice, Short stature, Ab... |
ORPHA:333 |
| Schinzel-Giedion Syndrome |
|
Micrognathia, Abnormality of the gingiva, Renal cyst, Tibial bowing, Anteriorly placed anus, Shor... |
ORPHA:798 |
| Amelogenesis Imperfecta, Type Ic |
|
Enamel hypomineralization, Anterior open-bite malocclusion, Taurodontia, Yellow-brown discolorati... |
OMIM:204650 |
| Fallot Complex-Intellectual Disability-Growth Delay Syndrome |
|
Overriding aorta, Single transverse palmar crease, Patent ductus arteriosus, 2-3 toe syndactyly, ... |
ORPHA:3304 |
| Short Stature, Developmental Delay, And Congenital Heart Defects |
|
Atrial septal defect, Patent foramen ovale, Patent ductus arteriosus, Ventricular septal defect |
OMIM:617044 |
| Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Cardiomegaly, Dysplastic corpus callosum, Perimembranous ventricular septal defect, Atrial septal... |
OMIM:620135 |
| Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities |
|
Epiphyseal dysplasia, Brachydactyly, Metaphyseal dysplasia, Single transverse palmar crease, Coxa... |
OMIM:617425 |
| Intellectual Disability-Brachydactyly-Pierre Robin Syndrome |
|
Prominent metopic ridge, Tented upper lip vermilion, Exaggerated cupid's bow, Hearing impairment,... |
ORPHA:364577 |
| Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases |
|
Spina bifida, Mitral valve prolapse |
OMIM:211960 |
| Vertical Talus, Congenital |
|
Arthritis, Calcaneovalgus deformity, Rocker bottom foot, Equinus calcaneus |
OMIM:192950 |
| Heyn-Sproul-Jackson Syndrome |
|
Short metacarpal, Broad phalanx, Short phalanx of finger, Broad metacarpals |
OMIM:618724 |
| Robin Sequence With Distinctive Facial Appearance And Brachydactyly |
|
Tented upper lip vermilion, Micrognathia, Aplasia of the distal phalanx of the 5th finger, Oligod... |
OMIM:608670 |
| Bile Acid Synthesis Defect, Congenital, 2 |
|
Elevated hepatic transaminase, Hepatomegaly, Intrahepatic cholestasis, Jaundice, Splenomegaly, El... |
OMIM:235555 |
| Bryant-Li-Bhoj Neurodevelopmental Syndrome 2 |
|
Mandibular prognathia, Prominent metopic ridge, Arachnodactyly, Postaxial polydactyly, Tapered fi... |
OMIM:619721 |
| Combined Oxidative Phosphorylation Deficiency 11 |
|
Hepatomegaly, Renal insufficiency, Renal hypoplasia, Renal cyst, Renal tubular acidosis, Stillbir... |
OMIM:614922 |
| Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Large posterior fontanelle, Micrognathia, Preaxial polydactyly, Narrow greater sciatic notch, Sho... |
OMIM:617925 |
| Cholestasis, Progressive Familial Intrahepatic, 1 |
|
Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Short stature, Conjugated hyperbil... |
OMIM:211600 |
| Inflammatory Pseudotumor Of The Liver |
|
Elevated circulating aspartate aminotransferase concentration, Elevated circulating alpha-fetopro... |
ORPHA:90003 |
| Pseudoaminopterin Syndrome |
|
Single transverse palmar crease, Limited elbow movement, Micrognathia, Asplenia, Orofacial cleft,... |
ORPHA:221120 |
| Cardioacrofacial Dysplasia 1 |
|
Accessory oral frenulum, Conical tooth, Postaxial polydactyly, Hypoplasia of the maxilla, Diastem... |
OMIM:619142 |
| Pfeiffer Syndrome |
|
Mandibular prognathia, Finger syndactyly, Brachydactyly, Symphalangism affecting the phalanges of... |
ORPHA:710 |
| Spondylodysplastic Ehlers-Danlos Syndrome |
|
Single transverse palmar crease, Metaphyseal widening, Abnormal finger morphology, Atrial septal ... |
ORPHA:536471 |
| Achondroplasia |
|
Brachydactyly, Radial bowing, Rhizomelia, Short femur, Bowing of the legs, Ulnar bowing, Hydrocep... |
OMIM:100800 |
| Facial Clefting, Oblique, 1 |
|
Coloboma |
OMIM:600251 |
| Birt-Hogg-Dube Syndrome 1 |
|
Renal neoplasm, Renal cyst, Renal cell carcinoma, Large intestinal polyposis, Colon cancer |
OMIM:135150 |
| Lymphoid Interstitial Pneumonia |
|
Hepatomegaly, Clubbing, Enlarged kidney |
ORPHA:79128 |
| Chondrodysplasia, Blomstrand Type |
|
Micromelia, Micrognathia, Squared iliac bones, Flared metaphysis, Advanced ossification of carpal... |
OMIM:215045 |
| Pyruvate Dehydrogenase E3 Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Increased urine alpha-ketoglutarate concentration, H... |
ORPHA:2394 |
| Ogden Syndrome |
|
Congenital hip dislocation, Maternal diabetes, Cardiomegaly, Microvesicular hepatic steatosis, Hi... |
OMIM:300855 |
| Multiple Endocrine Neoplasia Type 4 |
|
Hyperparathyroidism, Pituitary corticotropic cell adenoma, Fasting hyperinsulinemia, Pituitary pr... |
ORPHA:276152 |
| Craniometadiaphyseal Dysplasia, Wormian Bone Type |
|
Obtuse angle of mandible, Coxa valga, Short tubular bones of the hand, Wide anterior fontanel, Mi... |
ORPHA:85184 |
| Peroxisome Biogenesis Disorder 8A (Zellweger) |
|
Epiphyseal stippling, Ventricular septal defect |
OMIM:614876 |
| Maple Syrup Urine Disease |
|
Increased level of hippuric acid in urine, Hypoglycemia, Elevated circulating branched chain amin... |
OMIM:248600 |
| Rhizomelic Syndrome, Urbach Type |
|
Brachydactyly, Rhizomelia, Abnormality of the humerus, Preaxial hand polydactyly, Abnormality of ... |
ORPHA:3098 |
| Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age |
|
Scapular winging, Ventricular septal defect, Single transverse palmar crease, Micromelia, Monkey ... |
OMIM:618870 |
| Peripheral Dysostosis |
|
Hip osteoarthritis, Short phalanx of finger, Cone-shaped epiphyses of the phalanges of the hand |
OMIM:170700 |
| Axial Mesodermal Dysplasia Spectrum |
|
Short stature, Renal hypoplasia/aplasia, Abnormality of the spleen, Abnormality of the ureter, Tr... |
ORPHA:1834 |
| Mckusick-Kaufman Syndrome |
|
Syndactyly, Congenital hip dislocation, Hydroureter, Mesoaxial hand polydactyly, Aganglionic mega... |
OMIM:236700 |
| Ornithine Transcarbamylase Deficiency |
|
Hypoglycemia, Splenomegaly, Pyloric stenosis, Hyperammonemia, Aminoaciduria, Hepatic failure |
ORPHA:664 |
| Pulmonary Non-Tuberculous Mycobacterial Infection |
|
Pericardial effusion, Pleural effusion |
ORPHA:411703 |
| Pagod Syndrome |
|
Encephalocele, Spina bifida, Situs inversus totalis, Meningocele, Pulmonary artery hypoplasia, Ab... |
ORPHA:991 |
| Genitopalatocardiac Syndrome |
|
Multicystic kidney dysplasia, Hypospadias, Cryptorchidism, Abnormal mesentery morphology, Abnorma... |
ORPHA:2075 |
| Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2 |
|
Sensorineural hearing impairment, Cleft palate, Hydrocele testis, Radioulnar synostosis, Short mi... |
OMIM:616738 |
| Hyperphosphatasia With Impaired Intellectual Development Syndrome 1 |
|
Mandibular prognathia, Thin upper lip vermilion, Tented upper lip vermilion, Posteriorly rotated ... |
OMIM:239300 |
| Bardet-Biedl Syndrome 12 |
|
Hydroureter, Postaxial hand polydactyly, Postaxial foot polydactyly, Hydronephrosis, Polydactyly,... |
OMIM:615989 |
| 3-Methylglutaconic Aciduria Type 7 |
|
Elevated hepatic transaminase, Hepatic steatosis, Renal insufficiency, Renal cyst, Nephrocalcinos... |
ORPHA:445038 |
| Diabetic Embryopathy |
|
Ventricular septal defect, Hydrocephalus, Spinal dysraphism, Abnormal aortic morphology, Transpos... |
ORPHA:1926 |
| Fanconi-Bickel Syndrome |
|
Fasting hypoglycemia, Hepatomegaly, Ketonuria, Hypouricemia, Elevated circulating aspartate amino... |
OMIM:227810 |
| 46,Xx Difference Of Sex Development-Anorectal Anomalies Syndrome |
|
Anal atresia, Multicystic kidney dysplasia, Hydroureter, Intestinal malrotation, Renal hypoplasia... |
ORPHA:2973 |
| Tubulointerstitial Kidney Disease, Autosomal Dominant, 5 |
|
Chronic kidney disease, Elevated circulating creatinine concentration, Renal cyst, Focal segmenta... |
OMIM:617056 |
| Velocardiofacial Syndrome |
|
Ventricular septal defect, Abnormality of the hand, Interrupted aortic arch, Unilateral primary p... |
OMIM:192430 |
| Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy |
|
Wormian bones, Metaphyseal widening, Broad palm, Coxa vara, Flattened epiphysis, Metaphyseal cupp... |
OMIM:300232 |
| Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Hepatomegaly, Splenomegaly, Increased circulating ferritin concentration, Jaundice, Hepatitis, He... |
OMIM:194380 |
| Gorham-Stout Disease |
|
Abnormality of the temporomandibular joint, Abnormal pelvis bone morphology, Osteolysis involving... |
ORPHA:73 |
| Cerebellar-Facial-Dental Syndrome |
|
Single transverse palmar crease, Tapered finger, Micrognathia, Cryptorchidism, Dental malocclusio... |
ORPHA:444072 |
| Pancreatitis, Hereditary |
|
Diabetes mellitus, Pancreatic calcification, Pancreatic pseudocyst, Steatorrhea, Pancreatitis, Ex... |
OMIM:167800 |
| Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome |
|
Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Short humerus, Abnormal dental morpholog... |
ORPHA:2878 |
| Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Proteinuria, Thick hair, Heparan sulfate excretion in urine, Hepatosplenomegaly, Nephrotic syndro... |
ORPHA:505248 |
| Boomerang Dysplasia |
|
Finger syndactyly, Abnormal morphology of the radius, Abnormal morphology of ulna, Micromelia, Ap... |
ORPHA:1263 |
| Martsolf Syndrome 1 |
|
Micrognathia, Hypoplasia of the maxilla, Osteopathia striata, High palate, Short philtrum, Finger... |
OMIM:212720 |
| Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Iliac crest serration, Micromelia, Wide distal femoral metaphysis, Delayed epiphyseal ossificatio... |
OMIM:613320 |
| Johanson-Blizzard Syndrome |
|
Single transverse palmar crease, Conjugated hyperbilirubinemia, Anteriorly placed anus, Hepatic f... |
OMIM:243800 |
| Myhre Syndrome |
|
Mandibular prognathia, Hypoplasia of the maxilla, Epispadias, Short palm, Large iliac wing, Bifid... |
ORPHA:2588 |
| Osteoglophonic Dysplasia |
|
Mandibular prognathia, Hypoplasia of the maxilla, Short metatarsal, Eruption failure, High palate... |
OMIM:166250 |
| Fryns Syndrome |
|
Ureteral duplication, Ectopic pancreatic tissue, Tented upper lip vermilion, Single transverse pa... |
OMIM:229850 |
| Abetalipoproteinemia |
|
Elevated hepatic transaminase, Hepatomegaly, Decreased HDL cholesterol concentration, Cardiomegal... |
ORPHA:14 |
| Pontocerebellar Hypoplasia, Type 11 |
|
Coloboma, Recurrent respiratory infections, Agenesis of corpus callosum, Talipes equinovarus |
OMIM:617695 |
| Distal Deletion 15Q |
|
Bicuspid aortic valve, Single transverse palmar crease, Mitral atresia, Double outlet right ventr... |
ORPHA:1596 |
| Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor |
|
Nephroblastoma, Enlarged kidney |
OMIM:618272 |
| Autoinflammation, Immune Dysregulation, And Eosinophilia |
|
Eosinophilic liver infiltration, Short stature, Hepatosplenomegaly, Nephrotic syndrome, Membranou... |
OMIM:618999 |
| Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted |
|
Posteriorly rotated ears, Abnormality of thyroid physiology, Postaxial polydactyly, Tapered finge... |
OMIM:300968 |
| 15q26 overgrowth syndrome |
|
Long toe, Arachnodactyly, Camptodactyly of finger, Abnormality of the kidney, Tapered finger, Abn... |
DECIPHER:81 |
| Congenital Limbs-Face Contractures-Hypotonia-Developmental Delay Syndrome |
|
Pursed lips, Arachnodactyly, Micrognathia, Narrow mouth, Calcaneovalgus deformity, Adducted thumb... |
ORPHA:562528 |
| Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Dental crowding, Otitis media, Vesicoureteral reflux, Conductive hearing impairment, Broad hallux... |
ORPHA:353281 |
| Multiple Pterygium Syndrome, Lethal Type |
|
Pulmonary hypoplasia, Hypoplastic heart, Short finger |
OMIM:253290 |
| Banki Syndrome |
|
Clinodactyly of the 5th finger, Brachydactyly, Synostosis of carpal bones, Abnormal metacarpal mo... |
ORPHA:1228 |
| Beta-Thalassemia Intermedia |
|
Hypoparathyroidism, Hepatomegaly, Diabetes mellitus, Hepatocellular carcinoma, Splenomegaly, Jaun... |
ORPHA:231222 |
| Three M Syndrome 3 |
|
Protruding ear, Slender long bone, Hip dysplasia, Thick vermilion border, Long philtrum, Clinodac... |
OMIM:614205 |
| Dubowitz Syndrome |
|
Aplasia/Hypoplasia of the thumb, Abnormality of thumb phalanx, Micrognathia, Rectal prolapse, Pro... |
ORPHA:235 |
| Acro-Renal-Ocular Syndrome |
|
Hypoplasia of the ulna, Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Abnormal morphol... |
ORPHA:959 |
| Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome |
|
Radioulnar synostosis, Multicystic kidney dysplasia |
ORPHA:3270 |
| Grant Syndrome |
|
Wormian bones, Micrognathia, Down-sloping shoulders, Tibial bowing |
OMIM:138930 |
| Lenz-Majewski Hyperostotic Dwarfism |
|
Mandibular prognathia, High, narrow palate, Epispadias, Abnormal finger morphology, Symphalangism... |
ORPHA:2658 |
| Hand-Foot-Genital Syndrome |
|
Proximal placement of thumb, Pseudoepiphyses, Delayed tarsal ossification, Vesicoureteral reflux,... |
OMIM:140000 |
| Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome |
|
Finger syndactyly, Multicystic kidney dysplasia, Toe syndactyly, Arachnodactyly, Intestinal pseud... |
ORPHA:73246 |
| Robinow Syndrome, Autosomal Dominant 3 |
|
Syndactyly, Hypoplastic right heart, Ventricular septal defect, Patent foramen ovale, Patent duct... |
OMIM:616894 |
| Bardet-Biedl Syndrome 3 |
|
Renal hypoplasia, Postaxial polydactyly, Brachydactyly |
OMIM:600151 |
| Galactokinase Deficiency |
|
Hepatomegaly, Hypoglycemia, Hyperinsulinemia, Hepatosplenomegaly, Increased level of galactitol i... |
ORPHA:79237 |
| X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome |
|
Branchial cyst, Finger syndactyly, Tapered finger, Cryptorchidism, Severe postnatal growth retard... |
ORPHA:435938 |
| Bardet-Biedl Syndrome 20 |
|
Elevated hepatic transaminase, Proteinuria, Postaxial polydactyly, Bilateral cryptorchidism, Post... |
OMIM:619471 |
| Coenzyme Q10 Deficiency, Primary, 7 |
|
Patent ductus arteriosus, Ventricular septal defect, Hypertrophic cardiomyopathy, Hypoplastic lef... |
OMIM:616276 |
| Timothy Syndrome |
|
Ventricular septal defect, Pneumonia, Bronchitis, Cardiomegaly, Patent ductus arteriosus, Cutaneo... |
OMIM:601005 |
| Antley-Bixler Syndrome |
|
Low-set, posteriorly rotated ears, Arachnodactyly, Camptodactyly of finger, Craniosynostosis, Cle... |
ORPHA:83 |
| Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Dental crowding, Micrognathia, High palate, Otitis media, Conductive hearing impairment, Vesicour... |
ORPHA:353284 |
| Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Dental crowding, Micrognathia, High palate, Otitis media, Conductive hearing impairment, Vesicour... |
ORPHA:353277 |
| Bohring-Opitz Syndrome |
|
Low-set, posteriorly rotated ears, Joint dislocation, Prominent metopic ridge, Ulnar deviation of... |
ORPHA:97297 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12 |
|
Coloboma, Hydrocephalus, Agenesis of corpus callosum, Hypoplasia of the brainstem |
OMIM:615249 |
| Impacted Teeth, Multiple |
|
Supernumerary tooth, Multiple impacted teeth |
OMIM:308280 |
| Congenital Disorder Of Glycosylation, Type Iiw |
|
Elevated hepatic transaminase, Hepatomegaly, Membranoproliferative glomerulonephritis, Elevated c... |
OMIM:619525 |
| Multiple Synostoses Syndrome 2 |
|
Vertebral fusion, Tarsal synostosis, Humeroradial synostosis, Finger symphalangism, Talipes equin... |
OMIM:610017 |
| Renal Hypoplasia, Bilateral |
|
Hyponatremia, Proteinuria, Short stature, Cryptorchidism, Chronic kidney disease, Hyperkalemia, R... |
ORPHA:97362 |
| Tropical Pancreatitis |
|
Pancreatic adenocarcinoma, Maternal diabetes, Jaundice, Insulin-dependent but ketosis-resistant d... |
ORPHA:103918 |
| Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome |
|
Large posterior fontanelle, Anal atresia, Abnormal dental morphology, Tarsal synostosis, Aplastic... |
ORPHA:85199 |
| Congenitally Corrected Transposition Of The Great Arteries |
|
Atrial situs ambiguous, Abnormal left ventricular outflow tract morphology, Abnormal tricuspid va... |
ORPHA:216694 |
| Stuve-Wiedemann Syndrome 1 |
|
Single transverse palmar crease, Tibial bowing, Femoral bowing, Short tibia, Short phalanx of fin... |
OMIM:601559 |
| Polycystic Kidney Disease, Infantile Severe, With Tuberous Sclerosis |
|
Renal angiomyolipoma, Polycystic kidney dysplasia |
OMIM:600273 |
| Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties |
|
Atrial septal defect, Pericardial effusion, Multiple muscular ventricular septal defects, Polyhyd... |
OMIM:620070 |
| Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction |
|
Ventricular septal defect, Tapered finger, Patent ductus arteriosus, Interphalangeal thumb joint ... |
OMIM:613870 |
| Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Methylmalonic acidemia, Hepatomegaly, Hypoglycemia, Stage 5 chronic kidney disease, Hyperammonemi... |
OMIM:251000 |
| Gardner Syndrome |
|
Neoplasm of the pancreas, Duodenal polyposis, Abnormality of the dentition, Supernumerary tooth, ... |
ORPHA:79665 |
| Stickler Syndrome, Type I |
|
Arthropathy, Arachnodactyly, Micrognathia, Sensorineural hearing impairment, Irregular femoral ep... |
OMIM:108300 |
| Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps |
|
Hematuria, Renal insufficiency, Elevated circulating creatine kinase concentration, Renal cyst |
OMIM:611773 |
| Oculocerebrorenal Syndrome Of Lowe |
|
Mandibular prognathia, Hyperparathyroidism, Dental crowding, Micrognathia, Deep philtrum, Gingivi... |
ORPHA:534 |
| Dyskeratosis Congenita, Autosomal Recessive 1 |
|
Sparse scalp hair, Sparse eyelashes, Esophageal stricture, Palmoplantar hyperkeratosis, Hepatic f... |
OMIM:224230 |
| Waardenburg Syndrome, Type 3 |
|
Mandibular prognathia, Scapular winging, Aganglionic megacolon, Camptodactyly of finger, Sensorin... |
OMIM:148820 |
| Cardiomyopathy, Dilated, 2H |
|
Neonatal death, Secundum atrial septal defect, Muscular ventricular septal defect |
OMIM:620203 |
| Lethal Congenital Contracture Syndrome Type 1 |
|
Slender long bone, Abnormality of the elbow, Pulmonary hypoplasia, Abnormal hip bone morphology |
ORPHA:1486 |
| Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Delayed eruption of teeth, Bulging epiphyses, Enlargement of the ankles, Bowing of the legs, Subp... |
OMIM:264700 |
| Congenital Disorder Of Deglycosylation 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Anhidrosis, Single transverse palmar crease, Elevate... |
OMIM:615273 |
| Au-Kline Syndrome |
|
Downturned corners of mouth, Oligodontia, High palate, Clinodactyly of the 5th finger, Vesicouret... |
OMIM:616580 |
| B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Metaphyseal widening, Arachnodactyly, Repeated pneumothoraces, Atelectasis, Slender long bones wi... |
ORPHA:536467 |
| Stromme Syndrome |
|
Accessory spleen, Jejunal atresia, Intestinal malrotation, Bilateral renal hypoplasia, Preaxial p... |
OMIM:243605 |
| Congenital Enterovirus Infection |
|
Fetal ascites, Polyhydramnios, Pericardial effusion, Myocarditis, Hydrops fetalis, Cardiomyopathy... |
ORPHA:292 |
| Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
|
Atrial septal defect, Brachydactyly, Mesoaxial foot polydactyly, Overlapping toe, Broad hallux, S... |
OMIM:612474 |
| Slc35A2-Cdg |
|
Camptodactyly of finger, Abnormality of the hand, Coxa valga, Metatarsus adductus, Abnormal midbr... |
ORPHA:356961 |
| Codas Syndrome |
|
Delayed eruption of teeth, Short humerus, Short metacarpal, Congenital hip dislocation, Metaphyse... |
OMIM:600373 |
| Coffin-Siris Syndrome 4 |
|
Ventricular septal defect, Mitral atresia, Patent ductus arteriosus, Prominent interphalangeal jo... |
OMIM:614609 |
| Synostoses, Tarsal, Carpal, And Digital |
|
Short metacarpal, Tarsal synostosis, Aplasia/Hypoplasia of the middle phalanges of the hand, Meta... |
OMIM:186400 |
| Vertebral Hypersegmentation And Orofacial Anomalies |
|
Scapular winging, Supernumerary nipple, Micrognathia, Submucous cleft hard palate, Darwin tubercl... |
OMIM:619122 |
| Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3 |
|
Hypoplasia of the ulna, Tapered finger, Multiple joint dislocation, Hip dislocation, Knee disloca... |
OMIM:618395 |
| Branchiootic Syndrome 3 |
|
Branchial cyst |
OMIM:608389 |
| Fetal Trimethadione Syndrome |
|
Ventricular septal defect, Transposition of the great arteries, Atrial septal defect, Tetralogy o... |
ORPHA:1913 |
| Carnitine Palmitoyl Transferase 1A Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Renal tubular acidosis, Transient hype... |
ORPHA:156 |
| Portal Hypertension, Noncirrhotic, 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Esophageal varix |
OMIM:617068 |
| Immunodeficiency, Developmental Delay, And Hypohomocysteinemia |
|
Atrial septal defect, Recurrent lower respiratory tract infections, Bicuspid aortic valve |
OMIM:617744 |
| Pulmonary Hypertension, Primary, 1 |
|
Pulmonary arterial medial hypertrophy, Pulmonary artery vasoconstriction, Pulmonary aterial intim... |
OMIM:178600 |
| Sifrim-Hitz-Weiss Syndrome |
|
Renal insufficiency, Tapered finger, Cryptorchidism, Cupped ear, Vesicoureteral reflux, Flat acet... |
OMIM:617159 |
| Klippel-Trénaunay Syndrome |
|
Peripheral arteriovenous fistula, Venous insufficiency, Patent ductus arteriosus, Upper limb asym... |
ORPHA:90308 |
| Holzgreve Syndrome |
|
Low-set, posteriorly rotated ears, Abnormal morphology of ulna, Aplasia/Hypoplasia of the tongue,... |
ORPHA:2167 |
| Beta-Mercaptolactate Cysteine Disulfiduria |
|
Sandal gap, Arachnodactyly, Micromelia, Genu valgum, Atrial septal defect, Umbilical hernia |
ORPHA:1035 |
| Roberts-Sc Phocomelia Syndrome |
|
Tetraphocomelia, High palate, Sparse hair, Phocomelia, Wrist flexion contracture, Accessory splee... |
OMIM:268300 |
| Reni Syndrome |
|
Diffuse mesangial sclerosis, Hypertriglyceridemia, Hypoglycemia, Proteinuria, Mesangial hypercell... |
OMIM:617575 |
| Transketolase Deficiency |
|
Hepatomegaly, Increased level of ribose in urine, Proportionate short stature, Renal cyst, Type I... |
ORPHA:488618 |
| Cardiomyopathy, Dilated, 1S |
|
Bicuspid aortic valve, Dilated cardiomyopathy, Ebstein anomaly of the tricuspid valve, Coarctatio... |
OMIM:613426 |
| Cardiomyopathy, Dilated, 1A |
|
Pericardial effusion, Dilated cardiomyopathy |
OMIM:115200 |
| Microcephaly 30, Primary, Autosomal Recessive |
|
Thin upper lip vermilion, Cleft soft palate, Uplifted earlobe, Pierre-Robin sequence, Clinodactyl... |
OMIM:620183 |
| Desbuquois Syndrome |
|
Ventricular septal defect, Camptodactyly of finger, Coxa valga, Elbow dislocation, Small hand, Co... |
ORPHA:1425 |
| Joubert Syndrome 31 |
|
Molar tooth sign on MRI |
OMIM:617761 |
| Congenital Heart Defects, Multiple Types, 2 |
|
Bicuspid aortic valve, Ventricular septal defect, Myxomatous mitral valve degeneration, Subvalvul... |
OMIM:614980 |
| Fgfr2-Related Bent Bone Dysplasia |
|
Overfolding of the superior helices, Natal tooth, Hypoplastic ischia, Bowing of the legs, Microgn... |
ORPHA:313855 |
| Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 |
|
Ventricular septal defect, Postaxial polydactyly, Hydrocephalus, Vascular ring, Atrial septal defect |
OMIM:603387 |
| Hogue-Janssen Syndrome 2 |
|
Prominent metopic ridge, Tented upper lip vermilion, Broad hallux, Postaxial polydactyly, Unilate... |
OMIM:616362 |
| Tetrasomy 15Q26 |
|
Arachnodactyly, Patent ductus arteriosus, Hydrocephalus, Hypoplastic aortic arch, Camptodactyly, ... |
OMIM:614846 |
| Hypocomplementemic Urticarial Vasculitis |
|
Abnormal heart valve morphology, Pericardial effusion, Angioedema, Pleural effusion, Ascites |
ORPHA:36412 |
| Familial Adenomatous Polyposis 4 |
|
Duodenal polyposis, Gastric adenocarcinoma, Adenomatous colonic polyposis, Renal cyst, Ovarian cyst |
OMIM:617100 |
| Aortic Valve Disease 3 |
|
Bicuspid aortic valve, Aortic root aneurysm, Ascending aortic dissection, Atrial septal defect, A... |
OMIM:618496 |
| Pomgnt2-Related Limb-Girdle Muscular Dystrophy R24 |
|
Biliary atresia, Elevated circulating creatine kinase concentration |
ORPHA:565899 |
| Cutis Laxa, Autosomal Recessive, Type Iiia |
|
Wide cranial sutures, Congenital hip dislocation, Cryptorchidism, Hip dislocation, Large fontanel... |
OMIM:219150 |
| Culler-Jones Syndrome |
|
Ectopic posterior pituitary, Anterior pituitary hypoplasia, Postaxial polydactyly, Cleft upper li... |
OMIM:615849 |
| Kapur-Toriello Syndrome |
|
Ventricular septal defect, Single transverse palmar crease, Camptodactyly of finger, Short thumb,... |
OMIM:244300 |
| Apc-Related Attenuated Familial Adenomatous Polyposis |
|
Neoplasm of the pancreas, Duodenal polyposis, Supernumerary tooth, Adenomatous colonic polyposis,... |
ORPHA:247806 |
| Loeys-Dietz Syndrome 2 |
|
Bicuspid aortic valve, Descending thoracic aorta aneurysm, Bicuspid pulmonary valve, Atrial septa... |
OMIM:610168 |
| White Forelock With Malformations |
|
Clinodactyly of the 5th finger, Finger syndactyly, Atrial septal defect, Spina bifida occulta |
ORPHA:2475 |
| Thalidomide Embryopathy |
|
Aplasia/Hypoplasia of the thumb, Aplasia/hypoplasia of the humerus, Preaxial hand polydactyly, Ra... |
ORPHA:3312 |
| Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
|
Femoral bowing, Foot oligodactyly, Long ear, Aplasia/Hypoplasia of the tarsal bones, High palate,... |
OMIM:276820 |
| Kenny-Caffey Syndrome, Type 1 |
|
Delayed closure of the anterior fontanelle, Carious teeth, Small hand, Short foot, Slender long b... |
OMIM:244460 |
| Pendred Syndrome |
|
Abnormal vestibular function, Congenital sensorineural hearing impairment, Cochlear malformation,... |
OMIM:274600 |
| Ulbright-Hodes Syndrome |
|
Abnormal penis morphology, Short humerus, Short metacarpal, Maternal diabetes, Postnatal growth r... |
ORPHA:3404 |
| Orofacial Cleft 13 |
|
Cleft soft palate, Micrognathia, Oligodontia, Malar flattening, Retrognathia |
OMIM:613857 |
| Trisomy 8Q |
|
Low-set, posteriorly rotated ears, Hypoplasia of penis, Camptodactyly of finger, Micrognathia, Cr... |
ORPHA:1752 |
| Distal Symphalangism |
|
Camptodactyly of finger, Symphalangism affecting the phalanges of the hand, Synostosis of carpal ... |
ORPHA:3248 |
| Rhombencephalosynapsis |
|
Low-set, posteriorly rotated ears, Finger syndactyly, Microretrognathia, Aganglionic megacolon, E... |
ORPHA:59315 |
| Hemochromatosis, Type 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Alopecia, Diabetes mellitus, Cardiomegaly, Splenomeg... |
OMIM:235200 |
| Nemaline Myopathy 9 |
|
Ventricular septal defect |
OMIM:615731 |
| Fryns Syndrome |
|
Abnormal aortic arch morphology, Abnormal cardiac septum morphology, Abnormal aortic morphology, ... |
ORPHA:2059 |
| Taurodontism |
|
Taurodontia |
OMIM:272700 |
| Congenital Contractures Of The Limbs And Face, Hypotonia, And Developmental Delay |
|
Hip contracture, Pursed lips, Micrognathia, Metatarsus adductus, Calcaneovalgus deformity, Elbow ... |
OMIM:616266 |
| Silver-Russell Syndrome 2 |
|
Delayed closure of the anterior fontanelle, Micrognathia, 2-3 toe syndactyly, Hyperhidrosis, Down... |
OMIM:618905 |
| 3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency |
|
Hepatomegaly, Hypoglycemia, Increased level of hippuric acid in urine, Glutaric aciduria, Hyperam... |
OMIM:246450 |
| Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Elevated urinary 3-hydroxybutyric acid, Dicarboxylic... |
ORPHA:42 |
| Glycogen Storage Disease Xii |
|
Hepatomegaly, Increased circulating lactate dehydrogenase concentration, Elevated circulating cre... |
OMIM:611881 |
| Mesomelic Dwarfism, Reinhardt-Pfeiffer Type |
|
Hypoplasia of the ulna, Abnormal morphology of ulna, Micromelia, Elbow dislocation, Abnormal tibi... |
ORPHA:2634 |
| Neurofacioskeletal Syndrome With Or Without Renal Agenesis |
|
Attached earlobe, Deep philtrum, Knee flexion contracture, Microdontia, Prominent crus of helix, ... |
OMIM:619194 |
| Peutz-Jeghers Syndrome |
|
Neoplasm of the pancreas, Bile duct polyp, Rectal prolapse, Abnormality of the ureter, Multiple g... |
OMIM:175200 |
| Mesomelia-Synostoses Syndrome |
|
Microretrognathia, Ulnar deviation of the hand, Progressive forearm bowing, Micromelia, Micrognat... |
OMIM:600383 |
| 8Q12 Microduplication Syndrome |
|
Short foot, Atrial septal defect, Ventricular septal defect |
ORPHA:228399 |
| Subaortic Stenosis-Short Stature Syndrome |
|
Short stature, Biliary tract abnormality, Type II diabetes mellitus, Abnormal circulating lipid c... |
ORPHA:3191 |
| Tetrasomy 5P |
|
Recurrent respiratory infections, Overlapping toe, Short hallux, Long fingers, Hydrocephalus, Tal... |
ORPHA:3309 |
| Lessel-Kreienkamp Syndrome |
|
Thin upper lip vermilion, Wide cranial sutures, Dental malocclusion, Clinodactyly of the 5th fing... |
OMIM:619149 |
| Acrodysostosis 1 With Or Without Hormone Resistance |
|
Mandibular prognathia, Hypoplasia of the maxilla, Neonatal epiphyseal stippling, Short metatarsal... |
OMIM:101800 |
| Osteogenesis Imperfecta, Type Xiii |
|
Angulated humerus, Arachnodactyly, Hearing impairment, Wide distal femoral metaphysis, Dentinogen... |
OMIM:614856 |
| Contractural Arachnodactyly, Congenital |
|
Hip contracture, Bowing of the long bones, Arachnodactyly, Bicuspid aortic valve, Ventricular sep... |
OMIM:121050 |
| Amelogenesis Imperfecta, Type Iv |
|
Amelogenesis imperfecta, Enamel hypoplasia, Taurodontia, Yellow-brown discoloration of the teeth |
OMIM:104510 |
| Craniofaciofrontodigital Syndrome |
|
Bicuspid aortic valve, Ventricular septal defect, Polyhydramnios, Edema, Cardiomegaly, Pericardia... |
ORPHA:363705 |
| Chromosome 8Q22.1 Duplication Syndrome |
|
Hallux valgus, Short metacarpal, Enlarged interphalangeal joints, Genu recurvatum, Interphalangea... |
OMIM:151200 |
| Holoprosencephaly 9 |
|
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Hypoplasia ... |
OMIM:610829 |
| Snijders Blok-Campeau Syndrome |
|
Taurodontia, High palate, Widely spaced teeth, Low-set ears, Umbilical hernia, Enamel hypoplasia |
OMIM:618205 |
| Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia |
|
Hypoparathyroidism, Alopecia, Chronic active hepatitis, Atrophic gastritis, Malabsorption, Asplen... |
OMIM:240300 |
| Noonan Syndrome 8 |
|
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Pleural effusion, Pulm... |
OMIM:615355 |
| Drug-Induced Lupus Erythematosus |
|
Pericardial effusion, Pericarditis |
ORPHA:231111 |
| Rhizomelic Limb Shortening With Dysmorphic Features |
|
Hyperextensibility of the finger joints, Rhizomelia, Single transverse palmar crease, Short thumb... |
OMIM:618821 |
| Deafness-Enamel Hypoplasia-Nail Defects Syndrome |
|
Abnormal dental enamel morphology, Camptodactyly of finger, Abnormality of the dentition, Sensori... |
ORPHA:3220 |
| Greenberg Dysplasia |
|
Micromelia, Abnormal lung lobation, Tetraphocomelia, Hypoplasia of the calcaneus, Neonatal death,... |
OMIM:215140 |
| Msh3-Related Attenuated Familial Adenomatous Polyposis |
|
Ovarian dermoid cyst, Juvenile gastrointestinal polyposis, Adenomatous colonic polyposis, Multipl... |
ORPHA:480536 |
| Hypocalcemic Vitamin D-Dependent Rickets |
|
Delayed eruption of teeth, Enlargement of the ankles, Wide cranial sutures, Irregular, rachitic-l... |
ORPHA:289157 |
| Neurodegeneration And Seizures Due To Copper Transport Defect |
|
Short femur, Cardiomegaly, Pneumothorax, Talipes equinovarus, Pulmonary hypoplasia, Short tibia |
OMIM:620306 |
| Primary Non-Essential Cutis Verticis Gyrata |
|
Atrial septal defect, Ventricular septal defect |
ORPHA:357225 |
| Tooth Agenesis, Selective, X-Linked, 1 |
|
Agenesis of lateral incisor, Aplasia of the maxilla, Selective tooth agenesis, Agenesis of premol... |
OMIM:313500 |
| Cutis Laxa, Autosomal Recessive, Type Ic |
|
Sandal gap, Single transverse palmar crease, Vascular dilatation, Atelectasis, Recurrent pneumoni... |
OMIM:613177 |
| Metatropic Dysplasia |
|
Camptodactyly of finger, Micromelia, Hydrocephalus, Aplasia/Hypoplasia of the lungs, Halberd-shap... |
ORPHA:2635 |
| Parietal Foramina 1 |
|
Wormian bones, Encephalocele, Cleft palate, Cleft upper lip |
OMIM:168500 |
| Loeys-Dietz Syndrome 5 |
|
Scapular winging, Tented upper lip vermilion, Arachnodactyly, Cleft soft palate, Eosinophilic inf... |
OMIM:615582 |
| Pmp22-Rai1 Contiguous Gene Duplication Syndrome |
|
Overriding aorta, Bicuspid aortic valve, Sandal gap, Ventricular septal defect, 2-3 toe syndactyl... |
ORPHA:477817 |
| Left Ventricular Noncompaction 1 |
|
Noncompaction cardiomyopathy, Ventricular septal defect, Left ventricular noncompaction cardiomyo... |
OMIM:604169 |
| Lenz-Majewski Hyperostotic Dwarfism |
|
Mandibular prognathia, Hyperextensibility of the finger joints, Anterior pituitary hypoplasia, Mi... |
OMIM:151050 |
| Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Acute hepatic failure, Elevated hepatic transaminase, Abnormal circulating acylcarnitine concentr... |
ORPHA:71212 |
| Postaxial Acrofacial Dysostosis |
|
Syndactyly, Hypoplasia of the ulna, Congenital hip dislocation, Supernumerary nipple, Micrognathi... |
OMIM:263750 |
| Spondylocarpotarsal Synostosis Syndrome |
|
Coxa vara, Renal cyst, Clinodactyly of the 5th finger, Vertebral fusion, Scapular winging, Short ... |
OMIM:272460 |
| Meier-Gorlin Syndrome 7 |
|
2-4 finger syndactyly, Ventricular septal defect, Bowing of the legs, Aplasia/Hypoplasia of the p... |
OMIM:617063 |
| Intellectual Developmental Disorder, Autosomal Dominant 21 |
|
Atrial septal defect, Patent ductus arteriosus, Single transverse palmar crease, Coarctation of a... |
OMIM:615502 |
| Baller-Gerold Syndrome |
|
Limited elbow movement, Micrognathia, Patellar hypoplasia, Anteriorly placed anus, High palate, C... |
OMIM:218600 |
| Noonan Syndrome 11 |
|
Palmoplantar cutis laxa, Atrial septal defect, Hypertrophic cardiomyopathy, Pulmonic stenosis |
OMIM:618499 |
| Pyruvate Kinase Deficiency Of Red Cells |
|
Hepatomegaly, Reduced red cell pyruvate kinase level, Splenomegaly, Jaundice, Cholecystitis, Unco... |
OMIM:266200 |
| Congenital Myopathy 1B, Autosomal Recessive |
|
Recurrent respiratory infections, Pulmonary hypoplasia |
OMIM:255320 |
| Curry-Jones Syndrome |
|
Bicoronal synostosis, Anal stenosis, Wormian bones, Intestinal pseudo-obstruction, Duplication of... |
OMIM:601707 |
| Steel Syndrome |
|
Carpal synostosis, Sensorineural hearing impairment, Hip dislocation, Coxa vara, Clinodactyly of ... |
OMIM:615155 |
| Cirrhosis, Familial |
|
Jaundice, Micronodular cirrhosis, Fulminant hepatitis, Biliary cirrhosis, Increased level of L-fu... |
OMIM:215600 |
| Miller-Dieker Lissencephaly Syndrome |
|
Delayed eruption of teeth, Thin upper lip vermilion, Posteriorly rotated ears, Single transverse ... |
OMIM:247200 |
| Trisomy 13 |
|
Ventricular septal defect, Postaxial hand polydactyly, Patent ductus arteriosus, Abnormal lung lo... |
ORPHA:3378 |
| Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence |
|
Pierre-Robin sequence, Submucous cleft hard palate, Posteriorly placed tongue, Aplasia/Hypoplasia... |
OMIM:192445 |
| Encephalocraniocutaneous Lipomatosis |
|
Ventricular septal defect, Hydrocephalus, Subvalvular aortic stenosis, Atrial septal defect, Agen... |
OMIM:613001 |
| Chromosome 6Pter-P24 Deletion Syndrome |
|
Broad toe, Atrial septal defect, Ventricular septal defect, Rocker bottom foot, Patent ductus art... |
OMIM:612582 |
| Lethal Congenital Contracture Syndrome 1 |
|
Neonatal death, Pulmonary hypoplasia |
OMIM:253310 |
| Propionic Acidemia |
|
Hepatomegaly, Hypoglycemia, Increased level of hippuric acid in urine, Short stature, Hyperglycin... |
OMIM:606054 |
| Hypocalciuric Hypercalcemia, Familial, Type Iii |
|
Renal insufficiency, Hypercalcemia, Parathormone-independent increased renal tubular calcium reab... |
OMIM:600740 |
| Branchioskeletogenital Syndrome |
|
Attached earlobe, Mandibular prognathia, Upper limb peromelia, Hypoplasia of the maxilla, Downtur... |
ORPHA:1299 |
| Marshall Syndrome |
|
Micrognathia, Absent frontal sinuses, Knee osteoarthritis, Clinodactyly of the 5th finger, Small ... |
OMIM:154780 |
| Neurodevelopmental Disorder With Poor Growth, Large Ears, And Dysmorphic Facies |
|
Hallux valgus, Secundum atrial septal defect, Long hallux, Chorioretinal coloboma, Recurrent lowe... |
OMIM:620194 |
| Roifman Syndrome |
|
Hip contracture, Short metacarpal, Noncompaction cardiomyopathy, Ventricular septal defect, Singl... |
OMIM:616651 |
| Autism Spectrum Disorder Due To Auts2 Deficiency |
|
Decreased palmar creases, Narrow palm, Abnormal heart morphology, Joint contracture of the 5th fi... |
ORPHA:352490 |
| 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Fulminant hepatic failure, Dicarboxylic aciduria, Hypoglycemic seizures, Hepatic necrosis, Growth... |
OMIM:231530 |
| Scleromyxedema |
|
Abnormal coronary artery morphology, Transient ischemic attack, Abnormality of the hand, Abnormal... |
ORPHA:167635 |
| Congenital Bile Acid Synthesis Defect Type 4 |
|
Elevated hepatic transaminase, Giant cell hepatitis, Elevated circulating creatine kinase concent... |
ORPHA:79095 |
| Jacobsen Syndrome |
|
Long hallux, Abnormality of the anus, Low-set, posteriorly rotated ears, Broad hallux phalanx, Fi... |
ORPHA:2308 |
| 1Q41Q42 Microdeletion Syndrome |
|
Holoprosencephaly, Pulmonary hypoplasia, Talipes equinovarus |
ORPHA:250999 |
| Hyperinsulinemic Hypoglycemia, Familial, 8 |
|
Hypoglycemia, Short stature, Hyperinsulinemia, Hypoglycemic seizures, Hyperammonemia, Growth dela... |
OMIM:620211 |
| Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis |
|
Delayed eruption of teeth, Thin upper lip vermilion, Mixed hearing impairment, Short femur, Denta... |
OMIM:300990 |
| Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations |
|
Joint dislocation, Arthropathy, Genu recurvatum, Tibial bowing, Knee dislocation, Shoulder disloc... |
OMIM:143095 |
| Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome |
|
Aplasia/Hypoplasia of the lungs, Recurrent respiratory infections, Arachnodactyly, Bilateral sing... |
ORPHA:1548 |
| Branchiootic Syndrome 1 |
|
Branchial fistula |
OMIM:602588 |
| Vater/Vacterl Association |
|
Renal dysplasia, Syndactyly, Hypospadias, Renal agenesis, Ectopic kidney, Absent radius, Esophage... |
OMIM:192350 |
| Floating-Harbor Syndrome |
|
Renal cyst, Nephrocalcinosis, Humeral pseudarthrosis, Dislocated radial head, Short metacarpal, H... |
ORPHA:2044 |
| Acro-Renal-Mandibular Syndrome |
|
Hypoplasia of the ulna, Finger syndactyly, Hypoplastic scapulae, Split hand, Hypoplasia of the ra... |
ORPHA:958 |
| Even-Plus Syndrome |
|
Epiphyseal dysplasia, Patent foramen ovale, Dysplastic corpus callosum, Atrial septal defect, Age... |
OMIM:616854 |
| Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Decreased HDL cholesterol concentration, Hypoalbuminemia, Elevated gamma-glutamyltransferase leve... |
ORPHA:247598 |
| Gómez-López-Hernández Syndrome |
|
Hydrocephalus, Abnormal brainstem morphology |
ORPHA:1532 |
| Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome |
|
Bicuspid aortic valve, Ventricular septal defect, Cryptorchidism, Increased nuchal translucency, ... |
ORPHA:453499 |
| Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies |
|
Atrial septal defect, Overlapping toe, Ventricular septal defect, Abnormal heart morphology, Coar... |
OMIM:618494 |
| Hemihyperplasia-Multiple Lipomatosis Syndrome |
|
Macrodactyly, 2-4 toe syndactyly, Hydrocele testis, Foot polydactyly, Nephroblastoma, Ovarian ser... |
ORPHA:276280 |
| Loeys-Dietz Syndrome 1 |
|
Bicuspid aortic valve, Arachnodactyly, Arterial tortuosity, Descending thoracic aorta aneurysm, P... |
OMIM:609192 |
| Spondyloepimetaphyseal Dysplasia, X-Linked |
|
Hypoplasia of the maxilla, Long fibula, Short palm, Short phalanx of finger, Broad metacarpals, G... |
OMIM:300106 |
| Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism |
|
Decreased response to growth hormone stimulation test, Elevated circulating luteinizing hormone l... |
OMIM:300845 |
| Tuberous Sclerosis Complex |
|
Renal insufficiency, Abnormality of the kidney, Pituitary adenoma, Chronic kidney disease, Parath... |
ORPHA:805 |
| Rhizomelic Chondrodysplasia Punctata, Type 2 |
|
Short humerus, Rhizomelia, Micrognathia, Submucous cleft hard palate, Large fontanelles, Epiphyse... |
OMIM:222765 |
| Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies |
|
Epiphyseal dysplasia, Metaphyseal dysplasia, Hypospadias, Hypercalcemia, Decreased response to gr... |
OMIM:614732 |
| Wiedemann-Steiner Syndrome |
|
Thin upper lip vermilion, Exaggerated cupid's bow, Tapered finger, Micrognathia, Cryptorchidism, ... |
OMIM:605130 |
| Hereditary Chronic Pancreatitis |
|
Diabetes mellitus, Elevated circulating C-reactive protein concentration, Jaundice, Recurrent pan... |
ORPHA:676 |
| Intellectual Developmental Disorder, Autosomal Dominant 66 |
|
Arachnodactyly, Secundum atrial septal defect, Aortic root aneurysm, Transposition of the great a... |
OMIM:619910 |
| Chromosome 6Q24-Q25 Deletion Syndrome |
|
Atrial septal defect, Sandal gap, Patent ductus arteriosus, Dysplastic tricuspid valve, Small han... |
OMIM:612863 |
| Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
|
Syndactyly, Abnormal pinna morphology, Posteriorly rotated ears, Hypospadias, Micrognathia, Crypt... |
OMIM:616975 |
| Insulin-Resistance Syndrome Type B |
|
Fasting hyperinsulinemia, Glucose intolerance, Hypoalbuminemia, Fasting hypoglycemia, Hyperglycem... |
ORPHA:2298 |
| Cleft Velum |
|
Cleft soft palate, Hypoplasia of the maxilla, Conductive hearing impairment, Velopharyngeal insuf... |
ORPHA:99772 |
| Apert Syndrome |
|
Mandibular prognathia, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Delaye... |
ORPHA:87 |
| Meier-Gorlin Syndrome 1 |
|
Genu recurvatum, Micrognathia, Hypoplasia of the maxilla, Flat glenoid fossa, Cutaneous finger sy... |
OMIM:224690 |
| Laurence-Moon Syndrome |
|
Micropenis, Polydactyly, Abnormality of the hand |
OMIM:245800 |
| Neurodevelopmental, Jaw, Eye, And Digital Syndrome |
|
Sandal gap, Lens coloboma, 2-3 toe syndactyly, Small thenar eminence, Lateral ventricle dilatatio... |
OMIM:618914 |
| Spondylometaphyseal Dysplasia, Algerian Type |
|
Metaphyseal dysplasia, Bowed humerus, Short tubular bones of the hand, Tibial metaphyseal irregul... |
OMIM:184253 |
| Autosomal Recessive Multiple Pterygium Syndrome |
|
Finger syndactyly, Camptodactyly of finger, Symphalangism affecting the phalanges of the hand, Ab... |
ORPHA:2990 |
| Lissencephaly Syndrome, Norman-Roberts Type |
|
Rocker bottom foot, Patent foramen ovale, Atrial septal defect, Agenesis of corpus callosum, Addu... |
ORPHA:89844 |
| Spondylospinal Thoracic Dysostosis |
|
Pulmonary hypoplasia |
OMIM:601809 |
| Craniorachischisis |
|
Cervical spina bifida, Myelomeningocele, Anencephaly, Sirenomelia, Spinal dysraphism |
ORPHA:63260 |
| Acromelic Frontonasal Dysostosis |
|
Encephalocele, Syndactyly, Preaxial polydactyly, Preaxial foot polydactyly, Patellar hypoplasia, ... |
OMIM:603671 |
| Recombinant 8 Syndrome |
|
Atrial septal defect, Ventricular septal defect, Camptodactyly of finger, Patent ductus arteriosu... |
ORPHA:96167 |
| Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Bicuspid aortic valve, Ventricular septal defect, Abnormal hand morphology, Osteolysis involving ... |
ORPHA:371428 |
| Achondrogenesis, Type Ia |
|
Abnormal femoral metaphysis morphology, Hypoplastic scapulae, Micromelia, Bowing of the legs, Abn... |
OMIM:200600 |
| Hypoplastic Left Heart Syndrome |
|
Mitral atresia, Patent ductus arteriosus, Hypoplastic aortic arch, Hypoplastic left heart, Atrial... |
ORPHA:2248 |
| Fg Syndrome Type 1 |
|
Dental crowding, Single transverse palmar crease, Micrognathia, Fused teeth, High palate, Finger ... |
ORPHA:93932 |
| Acromesomelic Dysplasia 4 |
|
Mandibular prognathia, Short metatarsal, Short phalanx of finger, Genu varum, Short metacarpal, R... |
OMIM:619636 |
| Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Ulnar deviation of the hand, Ventricular septal defect, Single transverse palmar crease, Rocker b... |
OMIM:214100 |
| 16P12.1P12.3 Triplication Syndrome |
|
Hallux valgus, Decreased response to growth hormone stimulation test, Tapered finger, Bilateral c... |
ORPHA:485405 |
| Hand-Foot-Genital Syndrome |
|
Shortening of all middle phalanges of the fingers, Hypospadias, Short hallux, Proximal placement ... |
ORPHA:2438 |
| Bor Syndrome |
|
Ureteropelvic junction obstruction, Branchial cyst, Renal insufficiency, Multicystic kidney dyspl... |
ORPHA:107 |
| Helsmoortel-Van Der Aa Syndrome |
|
Decreased response to growth hormone stimulation test, High, narrow palate, Pineal cyst, Enuresis... |
OMIM:615873 |
| Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome |
|
Camptodactyly of finger, Abnormal pleura morphology, Aplasia/Hypoplasia of the lungs, Holoprosenc... |
ORPHA:2570 |
| Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Single transverse palmar crease, Abnormal aortic arch morphology, Tibial bowing, Hypoplastic ilia... |
ORPHA:96334 |
| Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Bowing of the long bones, Rhizomelia, Ventricular septal defect, Proximal placement of thumb, Abn... |
ORPHA:93267 |
| Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin |
|
Ventricular septal defect, Patent ductus arteriosus, Recurrent upper respiratory tract infections... |
OMIM:619769 |
| Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction |
|
Hyperglycemia, Elevated hemoglobin A1c, Maturity-onset diabetes of the young, Exocrine pancreatic... |
OMIM:609812 |
| Trisomy 10P |
|
Micrognathia, Abnormality of the ear, Orofacial cleft, High palate, Abnormal hip joint morphology... |
ORPHA:171929 |
| Cardiac Valvular Dysplasia 2 |
|
Bicuspid aortic valve, Ascending tubular aorta aneurysm, Pulmonic stenosis, Subvalvular aortic st... |
OMIM:620067 |
| Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Cardiomegaly, Pericardial effusion, Increased myocardial glycogen content, Biventricular hypertro... |
OMIM:261740 |
| Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures |
|
Micrognathia, Metaphyseal widening, Delayed proximal femoral epiphyseal ossification, High palate... |
OMIM:271640 |
| Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Hepatomegaly, Dental crowding, Down-sloping shoulders, Coxa valga, Micrognathia, Elbow flexion co... |
OMIM:248370 |
| Fanconi Anemia, Complementation Group D2 |
|
Absent thumb, Absent radius, Cryptorchidism, Short thumb, Preaxial hand polydactyly, Partial dupl... |
OMIM:227646 |
| Cardiac Septal Defects With Coarctation Of The Aorta |
|
Secundum atrial septal defect, Perimembranous ventricular septal defect, Coarctation of aorta |
OMIM:212090 |
| Enthesitis-Related Juvenile Idiopathic Arthritis |
|
Finger dactylitis, Abnormal metacarpophalangeal joint morphology, Abnormal metatarsal morphology,... |
ORPHA:85438 |
| Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A |
|
Hip contracture, Vertebral fusion, Posteriorly rotated ears, Tarsal synostosis, Multiple pterygia... |
OMIM:178110 |
| Chromosome 5Q12 Deletion Syndrome |
|
Long toe, Ventricular septal defect, Long fingers, Patent ductus arteriosus, Atrial septal defect... |
OMIM:615668 |
| Mend Syndrome |
|
Microretrognathia, Crossed fused renal ectopia, Broad hallux, Posteriorly rotated ears, Overlappi... |
OMIM:300960 |
| Igg4-Related Thyroid Disease |
|
Pancreatic fibrosis, Retroperitoneal fibrosis, Thyrotoxicosis with diffuse goiter, Abnormal pitui... |
ORPHA:64744 |
| Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome |
|
Finger syndactyly, Toe syndactyly, Elbow dislocation, Patent ductus arteriosus, Aplasia/Hypoplasi... |
ORPHA:1112 |
| Curry-Jones Syndrome |
|
Finger syndactyly, Toe syndactyly, Intestinal malrotation, Abnormality of thumb phalanx, Preaxial... |
ORPHA:1553 |
| Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Dental crowding, Micrognathia, Stage 5 chronic kidney disease, Hypoplasia of teeth, High palate, ... |
OMIM:608612 |
| Rauch-Steindl Syndrome |
|
Hepatomegaly, Short stature, Highly arched eyebrow, Postnatal growth retardation, Bilateral renal... |
OMIM:619695 |
| Deafness With Labyrinthine Aplasia, Microtia, And Microdontia |
|
Micrognathia, Conical tooth, Sensorineural hearing impairment, Supernumerary tooth, Aplasia of th... |
ORPHA:90024 |
| Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct |
|
Goiter, Sensorineural hearing impairment, Enlarged vestibular aqueduct, Incomplete partition of t... |
OMIM:600791 |
| Opitz-Kaveggia Syndrome |
|
Dental crowding, Single transverse palmar crease, Micrognathia, Anteriorly placed anus, Prominent... |
OMIM:305450 |
| Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency |
|
Hypertriglyceridemia, Hepatitis, Cholestasis, Increased LDL cholesterol concentration, Acute hepa... |
ORPHA:209902 |
| Ravine Syndrome |
|
Abnormal brainstem morphology, Atrophy/Degeneration affecting the brainstem |
ORPHA:99852 |
| Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of |
|
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Hyperglycinuria, Medium chain dicarbox... |
OMIM:201450 |
| Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities |
|
Hepatomegaly, Tented upper lip vermilion, Overlapping toe, High palate, Thick vermilion border, L... |
OMIM:619383 |
| Focal Dermal Hypoplasia |
|
Abnormal palmar dermatoglyphics, Chorioretinal coloboma, Iris coloboma, Finger syndactyly, Spina ... |
ORPHA:2092 |
| Campomelic Dysplasia |
|
Irregular dentition, Anterior tibial bowing, Micrognathia, Delayed epiphyseal ossification, Patel... |
OMIM:114290 |
| Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
|
Intestinal pseudo-obstruction, High, narrow palate, Protruding ear, Downturned corners of mouth, ... |
ORPHA:453504 |
| Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
|
Intestinal pseudo-obstruction, High, narrow palate, Protruding ear, Downturned corners of mouth, ... |
ORPHA:352665 |
| Smith-Lemli-Opitz Syndrome |
|
Micromelia, Proximal placement of thumb, 2-3 toe cutaneous syndactyly, Partial agenesis of the co... |
OMIM:270400 |
| Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom |
|
Bicuspid aortic valve, Ventricular septal defect, Patent ductus arteriosus, Recurrent pneumonia, ... |
ORPHA:500159 |
| Woolly Hair Nevus |
|
Widely-spaced incisors, Enlarged vestibular aqueduct, Brachydactyly |
ORPHA:79414 |
| Hypotonia, Infantile, With Psychomotor Retardation |
|
Lateral ventricle dilatation, Ventricular septal defect |
OMIM:616816 |
| Schinzel-Giedion Midface Retraction Syndrome |
|
Increased density of long bones, Single transverse palmar crease, Tibial bowing, Hepatoblastoma, ... |
OMIM:269150 |
| Atrial Septal Defect 1 |
|
Tetralogy of Fallot with pulmonary atresia, Ventricular septal defect, Bicuspid aortic valve, Sec... |
OMIM:108800 |
| Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2 |
|
Epiphyseal dysplasia, Bowing of the long bones, Hypoplastic ilia, Flared metaphysis, Hip dislocat... |
OMIM:615349 |
| Dihydropyrimidinase Deficiency |
|
Uraciluria, Short phalanx of finger, Talipes equinovarus, Anal atresia |
OMIM:222748 |
| Ciliary Dyskinesia, Primary, 20 |
|
Atrial situs inversus, Recurrent respiratory infections, Ventricular septal defect, Dextrocardia,... |
OMIM:615067 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, 35 |
|
Atrial septal defect, Contracture of the proximal interphalangeal joint of the 2nd finger, Ventri... |
OMIM:300998 |
| 3-Methylglutaconic Aciduria, Type V |
|
Hypospadias, Elevated circulating aspartate aminotransferase concentration, Postnatal growth reta... |
OMIM:610198 |
| Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency |
|
Pigment gallstones, Splenomegaly, Jaundice, Decreased glucosephosphate isomerase level, Cholecyst... |
OMIM:613470 |
| Pendred Syndrome |
|
Hyperparathyroidism, Vertigo, Sensorineural hearing impairment, Abnormality of the inner ear, Hyp... |
ORPHA:705 |
| Coffin-Siris Syndrome 5 |
|
Sandal gap, Atrial septal defect, Arachnodactyly, Short distal phalanx of finger |
OMIM:616938 |
| Melnick-Needles Syndrome |
|
Obtuse angle of mandible, Micrognathia, Tibial bowing, Ureteral stenosis, Cone-shaped epiphyses o... |
OMIM:309350 |
| Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome |
|
Short metacarpal, Partial agenesis of the corpus callosum, Epiphyseal stippling, Talipes equinova... |
ORPHA:86822 |
| Peroxisome Biogenesis Disorder 13A (Zellweger) |
|
Hepatomegaly, Dicarboxylic aciduria, Elevated circulating aspartate aminotransferase concentratio... |
OMIM:614887 |
| Gomez-Lopez-Hernandez Syndrome |
|
Posteriorly rotated ears, Decreased response to growth hormone stimulation test, Craniosynostosis... |
OMIM:601853 |
| Lateral Meningocele Syndrome |
|
Craniofacial hyperostosis, Prominent metopic ridge, Wormian bones, Posteriorly rotated ears, Dent... |
ORPHA:2789 |
| Orofaciodigital Syndrome X |
|
Coalescence of tarsal bones, Preaxial hand polydactyly, Hand oligodactyly, Cleft palate, Fibular ... |
OMIM:165590 |
| Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion |
|
Prominent metopic ridge, Tented upper lip vermilion, Micrognathia, Deep philtrum, Polydactyly, Hi... |
ORPHA:314655 |
| Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Elevated hepatic transaminase, Short stature, Elevated circulating long chain fatty acid concentr... |
OMIM:614886 |
| Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome |
|
Low-set, posteriorly rotated ears, Finger syndactyly, Brachydactyly, Abnormal dental enamel morph... |
ORPHA:1005 |
| Multiple Pterygium-Malignant Hyperthermia Syndrome |
|
Downturned corners of mouth, Conductive hearing impairment, Advanced eruption of teeth, Prominenc... |
ORPHA:2215 |
| Braddock-Carey Syndrome 1 |
|
Multicystic kidney dysplasia, Small hand, Cleft palate, Anteriorly placed anus, Talipes equinovar... |
OMIM:619980 |
| Axial Spondylometaphyseal Dysplasia |
|
Iliac crest serration, Proximal femoral metaphyseal irregularity, Upper limb undergrowth, Coxa va... |
ORPHA:168549 |
| Primary Intestinal Lymphangiectasia |
|
Edema, Pericardial effusion, Pleural effusion, Ascites, Generalized edema |
ORPHA:90362 |
| Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction |
|
Pericardial effusion, Cardiomyopathy |
OMIM:620089 |
| Usher Syndrome Type 1 |
|
Abnormal cochlea morphology, Sensorineural hearing impairment, Vestibular hypofunction, Abnormal ... |
ORPHA:231169 |
| Holoprosencephaly |
|
Encephalocele, Ventricular septal defect, Abnormal pulmonary valve morphology, Short neck, Crypto... |
ORPHA:2162 |
| Atelis Syndrome 1 |
|
Atrial septal defect, Ventricular septal defect, Bronchiectasis |
OMIM:620184 |
| Ankyloglossia With Or Without Tooth Anomalies |
|
Supernumerary tooth, Ankyloglossia |
OMIM:106280 |
| Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Atrial septal defect, Stroke, Ventricular septal defect |
ORPHA:49827 |
| Alpha-Thalassemia |
|
Hypersplenism, Splenomegaly, Jaundice, Cholelithiasis |
ORPHA:846 |
| Pearson Marrow-Pancreas Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Villous atrophy, Pancreatic fibrosis, Malabsorption,... |
OMIM:557000 |
| Glycogen Storage Disease Ic |
|
Hepatomegaly, Renal insufficiency, Hypoglycemia, Proteinuria, Chronic pancreatitis, Hyperlipidemi... |
OMIM:232240 |
| Spondylometaphyseal Dysplasia, Pagnamenta Type |
|
Rhizomelia, Femoral bowing, Wormian bones, Short 4th metacarpal, Broad thumb, Short 5th metacarpal |
OMIM:619638 |
| Cdags Syndrome |
|
Anal atresia, Hypospadias, Sagittal craniosynostosis, Rectourethral fistula, Sensorineural hearin... |
OMIM:603116 |
| Neurodevelopmental Disorder With Or Without Autism Or Seizures |
|
Submucous cleft hard palate, Bifid uvula, Absent thumb |
OMIM:619239 |
| Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia |
|
Aplasia/Hypoplasia of the distal phalanges of the toes, Ventricular septal defect, Aplasia/Hypopl... |
ORPHA:94066 |
| Weill-Marchesani Syndrome |
|
Ventricular septal defect, Short thumb, Pulmonic stenosis, Aortic valve stenosis, Brachydactyly |
ORPHA:3449 |
| Transaldolase Deficiency |
|
Atrial septal defect, Biventricular hypertrophy, Coarctation of aorta |
ORPHA:101028 |
| Trichorhinophalangeal Syndrome, Type Ii |
|
Syndactyly, Short metacarpal, Scapular winging, Bicuspid aortic valve, Single transverse palmar c... |
OMIM:150230 |
| Denys-Drash Syndrome |
|
Diffuse mesangial sclerosis, Nephroblastoma, Stage 5 chronic kidney disease, Nephrotic syndrome, ... |
OMIM:194080 |
| Noonan Syndrome 12 |
|
Tetralogy of Fallot, Ventricular septal defect, Proximal placement of thumb |
OMIM:618624 |
| Ogden Syndrome |
|
Microretrognathia, Everted upper lip vermilion, Broad hallux, Cryptorchidism, High, narrow palate... |
ORPHA:276432 |
| Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Pericardial lymphangiectasia, Ventricular septal defect, Nonimmune hydrops fetalis, Lymphedema, P... |
OMIM:235510 |
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1 |
|
Atrial septal defect, Patent ductus arteriosus, Pulmonary hypoplasia, Abnormal ilium morphology, ... |
OMIM:614080 |
| Native American Myopathy |
|
Submucous cleft soft palate, Micrognathia, Cryptorchidism, Cleft palate, Downturned corners of mo... |
ORPHA:168572 |
| Congenital Tracheal Stenosis |
|
Ventricular septal defect, Ascending aorta hypoplasia, Patent ductus arteriosus, Abnormal lung mo... |
ORPHA:141127 |
| Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies |
|
Clinodactyly of the 5th finger, Ventricular septal defect, Rocker bottom foot |
OMIM:618506 |
| Cntnap2-Related Developmental And Epileptic Encephalopathy |
|
Hepatomegaly, Preaxial polydactyly |
ORPHA:163681 |
| Microcephalic Osteodysplastic Primordial Dwarfism, Type Iii |
|
Hip contracture, Thin upper lip vermilion, Hypospadias, Delayed cranial suture closure, Micrognat... |
OMIM:210730 |
| Nephronophthisis 4 |
|
Polyuria, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Nephronophthisis, Renal t... |
OMIM:606966 |
| Osteogenesis Imperfecta, Type Xvi |
|
Angulated humerus, Microretrognathia, Bowing of the long bones, Wormian bones, Rhizomelia, Tooth ... |
OMIM:616229 |
| Peters Plus Syndrome |
|
Toe syndactyly, Rhizomelia, Micromelia, Short toe, Bicuspid pulmonary valve, Patent ductus arteri... |
ORPHA:709 |
| Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Elevated hepatic transaminase, Hypertyrosinemia, Hypoglycemia, 4-hydroxyphenylacetic aciduria, Co... |
OMIM:617156 |
| Brachytelephalangic Chondrodysplasia Punctata |
|
Recurrent respiratory infections, Calcaneal epiphyseal stippling, Ventricular septal defect, Abno... |
ORPHA:79345 |
| Renal Coloboma Syndrome |
|
Renal insufficiency, Multicystic kidney dysplasia, Renal hypoplasia, Vesicoureteral reflux, Renal... |
ORPHA:1475 |
| Joubert Syndrome 28 |
|
Molar tooth sign on MRI |
OMIM:617121 |
| 2Q37 Microdeletion Syndrome |
|
Finger syndactyly, Short metacarpal, Toe syndactyly, Brachydactyly, Sparse scalp hair, Supernumer... |
ORPHA:1001 |
| Joubert Syndrome 2 |
|
Encephalocele, Brainstem dysplasia, Hydrocephalus, Postaxial hand polydactyly, Postaxial foot pol... |
OMIM:608091 |
| Hypomandibular Faciocranial Dysostosis |
|
Atrial septal defect, Patent ductus arteriosus, Optic disc coloboma |
OMIM:241310 |
| Ellis Van Creveld Syndrome |
|
Abnormal oral mucosa morphology, Micromelia, Epispadias, Conical incisor, Microdontia, Synostosis... |
ORPHA:289 |
| Lymphedema, Cardiac Septal Defects, And Characteristic Facies |
|
Overriding aorta, Ventricular septal defect, Patent ductus arteriosus, Vascular ring, Atrial sept... |
OMIM:601927 |
| Al-Raqad Syndrome |
|
Atrial septal defect, Sandal gap, Brachydactyly |
OMIM:616459 |
| Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Hepatomegaly, Postnatal growth retardation, Splenomegaly, Postaxial hand polydactyly, Pancreatic ... |
ORPHA:1655 |
| Oculogastrointestinal Neurodevelopmental Syndrome |
|
Coloboma, Bicuspid aortic valve |
OMIM:619318 |
| Otopalatodigital Syndrome, Type Ii |
|
Congenital hip dislocation, Micrognathia, Short metatarsal, Femoral bowing, Tibial bowing, Conduc... |
OMIM:304120 |
| Spondyloepimetaphyseal Dysplasia, Sponastrime Type |
|
Mandibular prognathia, Brachydactyly, Rhizomelia, Abnormality of the dentition, Flat capital femo... |
OMIM:271510 |
| 20P12.3 Microdeletion Syndrome |
|
Atrial septal defect, Broad hallux phalanx, Broad thumb |
ORPHA:261295 |
| Tall Stature-Intellectual Disability-Renal Anomalies Syndrome |
|
Renal malrotation, Multicystic kidney dysplasia, Abnormal thumb morphology, Metatarsus adductus, ... |
ORPHA:500095 |
| Rubinstein-Taybi Syndrome 1 |
|
Single transverse palmar crease, Coloboma, Aortic isthmus hypoplasia, Hypoplastic iliac wing, Atr... |
OMIM:180849 |
| Orofaciodigital Syndrome Xvi |
|
Postaxial foot polydactyly, Postaxial hand polydactyly, Molar tooth sign on MRI |
OMIM:617563 |
| Esophageal Atresia |
|
Recurrent respiratory infections, Ventricular septal defect, Bronchitis, Coarctation of aorta, Co... |
ORPHA:1199 |
| Luscan-Lumish Syndrome |
|
Mandibular prognathia, Advanced ossification of carpal bones, Polycystic ovaries, Recurrent otiti... |
OMIM:616831 |
| Renal Agenesis |
|
Pulmonary hypoplasia, Ventricular septal defect, Talipes equinovarus |
ORPHA:411709 |
| Lymphoproliferative Syndrome 1 |
|
Pericardial effusion, Pleural effusion |
OMIM:613011 |
| Aymé-Gripp Syndrome |
|
Oligodontia, Clinodactyly of the 5th finger, Prominent metopic ridge, Tapered finger, Cryptorchid... |
ORPHA:1272 |
| Subependymal Nodular Heterotopia |
|
Occipital encephalocele, Myelomeningocele, Meningocele, Nasofrontal encephalocele |
ORPHA:101030 |
| Chromosome 17Q12 Deletion Syndrome |
|
Long toe, Elevated hepatic transaminase, Multicystic kidney dysplasia, Recurrent urinary tract in... |
OMIM:614527 |
| Acute Interstitial Pneumonia |
|
Pericardial effusion, Pleural effusion, Peripheral edema |
ORPHA:79126 |
| Nephronophthisis 1 |
|
Tubular basement membrane disintegration, Polyuria, Stage 5 chronic kidney disease, Renal cortico... |
OMIM:256100 |
| Weiss-Kruszka Syndrome |
|
Bicuspid aortic valve, Single transverse palmar crease, Proximal placement of thumb, Ventricular ... |
OMIM:618619 |
| Joubert Syndrome With Oculorenal Defect |
|
Encephalocele, Hydrocephalus, Hand polydactyly, Foot polydactyly, Molar tooth sign on MRI |
ORPHA:2318 |
| Cone-Rod Dystrophy 16 |
|
Postaxial polydactyly |
OMIM:614500 |
| Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Hearing impairment, Abnormality of the dentition, Large fontanelles, Breast aplasia, Osteolytic d... |
ORPHA:90153 |
| Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Ventricular septal defect, Situs inversus totalis, Cardiomyopathy, Stroke, Atrial septal defect |
OMIM:249270 |
| Keutel Syndrome |
|
Peripheral pulmonary artery stenosis, Ventricular septal defect, Short hallux, Premature fusion o... |
OMIM:245150 |
| Frank-Ter Haar Syndrome |
|
Micrognathia, Protruding ear, High palate, Short palm, Short phalanx of finger, Simple ear, Wide ... |
OMIM:249420 |
| Double Outlet Left Ventricle |
|
Double outlet left ventricle, Ventricular septal defect, Abnormal coronary artery course, Cardiom... |
ORPHA:3427 |
| Autosomal Dominant Coarctation Of Aorta |
|
Aortic arch aneurysm, Ventricular septal defect, Patent ductus arteriosus, Abnormal aortic arch m... |
ORPHA:1455 |
| Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7 |
|
Dental crowding, Decreased response to growth hormone stimulation test, Micrognathia, High, narro... |
ORPHA:96182 |
| Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To |
|
Elevated urinary 3-hydroxybutyric acid, Ketonuria, Hypoglycemia, Abnormal urine sebacic acid conc... |
OMIM:615751 |
| 1p36 microdeletion syndrome |
|
Delayed cranial suture closure |
DECIPHER:18 |
| Cardiac-Valvular Ehlers-Danlos Syndrome |
|
Hallux valgus, Joint dislocation, Sandal gap, Recurrent shoulder dislocation, Genu recurvatum, De... |
ORPHA:230851 |
| Acheiropody |
|
Carpal bone aplasia, Short humerus, Aplasia of the phalanges of the hand, Aplasia of the ulna, Ab... |
OMIM:200500 |
| Familial Adenomatous Polyposis 1 |
|
Duodenal polyposis, Carious teeth, Supernumerary tooth, Adenomatous colonic polyposis, Multiple g... |
OMIM:175100 |
| Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion |
|
Ventricular hypertrophy, Ventricular septal defect, Bicuspid aortic valve, Patent ductus arterios... |
ORPHA:284169 |
| Lambotte Syndrome |
|
Preaxial foot polydactyly, Semilobar holoprosencephaly |
OMIM:245552 |
| Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly |
|
Mirror image foot polydactyly, Preaxial foot polydactyly, Patellar hypoplasia, Stillbirth, Bilate... |
OMIM:119800 |
| Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation |
|
Pericardial effusion, Abnormal myocardium morphology, Dilated cardiomyopathy |
ORPHA:300751 |
| Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome |
|
Hallux valgus, Absent eyebrow, Short metacarpal, Alopecia, Short stature, Absent eyelashes, Metap... |
ORPHA:166035 |
| Cornelia De Lange Syndrome 1 |
|
Single transverse palmar crease, Micromelia, Proximal placement of thumb, Ectopic kidney, High, n... |
OMIM:122470 |
| Kallmann Syndrome-Heart Disease Syndrome |
|
Anomalous origin of left coronary artery from the pulmonary artery, Dilated cardiomyopathy, Right... |
ORPHA:2326 |
| Amish Lethal Microcephaly |
|
Hepatomegaly, Cleft soft palate, Spina bifida, Micrognathia, Organic aciduria |
ORPHA:99742 |
| Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type |
|
Limb undergrowth, Abnormal limb bone morphology, Aplasia/Hypoplasia of the lungs |
ORPHA:2204 |
| Adams-Oliver Syndrome 1 |
|
Encephalocele, Toe syndactyly, Bicuspid aortic valve, Ventricular septal defect, Pulmonary artery... |
OMIM:100300 |
| Alagille Syndrome |
|
Hypoplasia of the ulna, Atrial septal defect, Ventricular septal defect, Clinodactyly of the 5th ... |
ORPHA:52 |
| Congenital Sialidosis Type 2 |
|
Hepatomegaly, Protruding tongue, Gingival overgrowth, Hepatosplenomegaly, Polydactyly, Low-set ea... |
ORPHA:93400 |
| Papillorenal Syndrome |
|
Renal malrotation, Multicystic kidney dysplasia, Proteinuria, Absence of renal corticomedullary d... |
OMIM:120330 |
| Carnitine-Acylcarnitine Translocase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Dicarboxylic aciduria, Hypoglycemia, Elevated circul... |
OMIM:212138 |
| 3-Methylcrotonyl-Coa Carboxylase 1 Deficiency |
|
Acute hyperammonemia, Ketonuria, Hypoglycemia, Acute hepatic steatosis, Elevated urinary 3-methyl... |
OMIM:210200 |
| Osteogenesis Imperfecta, Type Iii |
|
Protrusio acetabuli, Micrognathia, Wide anterior fontanel, Tibial bowing, Slender long bone, Worm... |
OMIM:259420 |
| Baraitser-Winter Syndrome 2 |
|
Coloboma, Agenesis of corpus callosum |
OMIM:614583 |
| Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations |
|
Atrial septal defect, Toe syndactyly, Bicuspid aortic valve, Single transverse palmar crease, Val... |
OMIM:300707 |
| Trichohepatoneurodevelopmental Syndrome |
|
Synophrys, Coarse hair, High palate, Bilateral coxa valga, Clinodactyly of the 5th finger, Thorac... |
OMIM:618268 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type |
|
Ventricular septal defect, Arachnodactyly, Aortic root aneurysm, Talipes equinovarus, Camptodacty... |
OMIM:301039 |
| Ventriculomegaly With Cystic Kidney Disease |
|
Vascular dilatation, Hydrocephalus, Ventricular septal defect, Postaxial polydactyly |
OMIM:219730 |
| Cholestasis, Progressive Familial Intrahepatic, 5 |
|
Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... |
OMIM:617049 |
| Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency |
|
Splenomegaly, Jaundice, Cholecystitis, Hyperbilirubinemia, Cholelithiasis |
OMIM:235700 |
| Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies |
|
Communicating hydrocephalus, Hydrocephalus, Colpocephaly, Chorioretinal coloboma, Atrial septal d... |
OMIM:615219 |
| Congenital Disorder Of Glycosylation, Type It |
|
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Elevated circulating aspartate aminotr... |
OMIM:614921 |
| Osteogenesis Imperfecta-Retinopathy-Seizures-Intellectual Disability Syndrome |
|
Wormian bones |
ORPHA:2773 |
| Microphthalmia, Syndromic 6 |
|
Single transverse palmar crease, Uplifted earlobe, Micrognathia, Protruding ear, High palate, Cli... |
OMIM:607932 |
| Sialuria |
|
Elevated hepatic transaminase, Hepatomegaly, High, narrow palate, 2-3 toe syndactyly, Hepatosplen... |
ORPHA:3166 |
| Alkuraya-Kucinskas Syndrome |
|
Pericardial effusion, Pleural effusion, Edema |
OMIM:617822 |
| Cerebrooculonasal Syndrome |
|
Encephalocele, Posteriorly rotated ears, Postaxial polydactyly, Craniosynostosis, Postaxial hand ... |
OMIM:605627 |
| Osteopathia Striata With Cranial Sclerosis |
|
Dental crowding, Micrognathia, Osteopathia striata, Craniofacial osteosclerosis, High palate, Cli... |
OMIM:300373 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type |
|
Decreased testicular size, Short stature, Cryptorchidism, Furrowed tongue, Short foot, Large hand... |
OMIM:300534 |
| Marbach-Schaaf Neurodevelopmental Syndrome |
|
Thin upper lip vermilion, Posteriorly rotated ears, Tapered finger, Submucous cleft hard palate, ... |
OMIM:619680 |
| Carpenter Syndrome 2 |
|
Single transverse palmar crease, Bilateral cryptorchidism, High, narrow palate, Preaxial polydact... |
OMIM:614976 |
| Hyperparathyroidism-Jaw Tumor Syndrome |
|
Pancreatic adenocarcinoma, Renal insufficiency, Hypercalcemia, Testicular neoplasm, Renal hamarto... |
ORPHA:99880 |
| Microcephaly-Capillary Malformation Syndrome |
|
Ventricular septal defect, Right ventricular hypertrophy, Atrial septal defect, Clinodactyly, Pat... |
OMIM:614261 |
| Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Hypoglycemia, Short stature, Insulin-resistant diabetes mellitus, Long penis, Hyperinsulinemia, D... |
OMIM:262190 |
| Atrial Septal Defect 6 |
|
Atrial septal defect |
OMIM:613087 |
| Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects |
|
Single transverse palmar crease, Limited elbow movement, Proximal placement of thumb, Micrognathi... |
OMIM:610759 |
| Megalencephaly |
|
Atrial septal defect, Genu valgum |
ORPHA:2477 |
| C Syndrome |
|
Hepatomegaly, Short metacarpal, Toe syndactyly, Micromelia, Cryptorchidism, Postaxial hand polyda... |
OMIM:211750 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Pericardial effusion, Hypertrophic cardiomyopathy, Ventricular septal defect |
OMIM:618775 |
| Solitary Median Maxillary Central Incisor |
|
Coloboma, Cyclopia, Holoprosencephaly |
OMIM:147250 |
| Joubert Syndrome 35 |
|
Molar tooth sign on MRI, Elongated superior cerebellar peduncle, Single transverse palmar crease |
OMIM:618161 |
| Ehlers-Danlos Syndrome, Dermatosparaxis Type |
|
Delayed closure of the anterior fontanelle, Micrognathia, Frontal open bite, Wide anterior fontan... |
OMIM:225410 |
| Aural Atresia, Multiple Congenital Anomalies, And Mental Retardation |
|
Ventricular septal defect, Talipes equinovarus |
OMIM:209770 |
| Lacrimoauriculodentodigital Syndrome 1 |
|
Absence of Stensen duct, Xerostomia, Preaxial polydactyly, Radial deviation of the 3rd finger, Tr... |
OMIM:149730 |
| Oculoauriculovertebral Spectrum With Radial Defects |
|
Aplasia/Hypoplasia of the thumb, Distal urethral duplication, Renal hypoplasia/aplasia, Preaxial ... |
ORPHA:2549 |
| Arterial Tortuosity Syndrome |
|
Long palm, Arachnodactyly, Rocker bottom foot, Coxa valga, Avascular necrosis of the capital femo... |
ORPHA:3342 |
| Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome |
|
Short distal phalanx of toe, Atrial septal defect, Bilateral triphalangeal thumbs, Short distal p... |
OMIM:619356 |
| Camptodactyly-Joint Contractures-Facial Skeletal Defects Syndrome |
|
Finger syndactyly, Camptodactyly of finger, Micrognathia, Narrow palate, Abnormal hip bone morpho... |
ORPHA:1323 |
| Short Rib-Polydactyly Syndrome, Verma-Naumoff Type |
|
Hypoplasia of penis, Micromelia, Urethrovaginal fistula, Preaxial hand polydactyly, Abnormal pelv... |
ORPHA:93271 |
| Delpire-Mcneill Syndrome |
|
Agenesis of corpus callosum, Ventricular septal defect, Hip dislocation |
OMIM:619083 |
| Beta-Thalassemia |
|
Hepatomegaly, Splenomegaly, Hepatitis, Abnormality of iron homeostasis, Cholelithiasis |
ORPHA:848 |
| Microcephalic Osteodysplastic Primordial Dwarfism Type Ii |
|
Atrial septal defect, Recurrent respiratory infections, Micromelia, Abnormal cerebral vascular mo... |
ORPHA:2637 |
| Pediatric Systemic Lupus Erythematosus |
|
Pericardial effusion, Pleural effusion, Ascites, Edema |
ORPHA:93552 |
| Congenital Disorder Of Glycosylation, Type Iie |
|
Hepatomegaly, Neurogenic bladder, Hypoglycemia, Elevated circulating aspartate aminotransferase c... |
OMIM:608779 |
| Jacobsen Syndrome |
|
U-Shaped upper lip vermilion, Hypospadias, Micrognathia, Cryptorchidism, Pyloric stenosis, Low-se... |
OMIM:147791 |
| Congenital Diaphragmatic Hernia |
|
Pulmonary hypoplasia |
ORPHA:2140 |
| Kapur-Toriello Syndrome |
|
Ventricular septal defect, Dysplastic corpus callosum, Patent ductus arteriosus, Retinal coloboma... |
ORPHA:2328 |
| Congenital Alveolar Capillary Dysplasia |
|
Absent gallbladder, Aganglionic megacolon, Intestinal malrotation, Asplenia, Volvulus, Tracheoeso... |
ORPHA:210122 |
| Radio-Renal Syndrome |
|
Multicystic kidney dysplasia, Renal agenesis, Micromelia, Renal hypoplasia/aplasia, High, narrow ... |
ORPHA:3015 |
| 17Q12 Microduplication Syndrome |
|
Atrial septal defect, Finger syndactyly, Toe syndactyly |
ORPHA:261272 |
| Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Hydrocephalus, Holoprosencephaly, Agenesis o... |
ORPHA:77298 |
| Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia |
|
Recurrent respiratory infections, Ventricular septal defect, Coarctation of aorta |
OMIM:620210 |
| Parathyroid Carcinoma |
|
Pancreatic adenocarcinoma, Renal insufficiency, Hypercalcemia, Testicular neoplasm, Renal hamarto... |
ORPHA:143 |
| Hamel Cerebro-Palato-Cardiac Syndrome |
|
Atrial septal defect, Arachnodactyly |
ORPHA:93946 |
| Igg4-Related Submandibular Gland Disease |
|
Renal insufficiency, Cholangitis, Retroperitoneal fibrosis, Prostatitis, Enlarged lacrimal glands... |
ORPHA:449432 |
| Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome |
|
Overlapping toe, Dysplastic corpus callosum, Muscular ventricular septal defect, Patent ductus ar... |
ORPHA:363444 |
| Cole-Carpenter Syndrome 2 |
|
Microretrognathia, Wide cranial sutures, High palate, Lambdoidal craniosynostosis, Wormian bones,... |
OMIM:616294 |
| Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome |
|
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Short 5th finger, Trip... |
OMIM:220500 |
| Dysosteosclerosis |
|
Delayed eruption of teeth, Natal tooth, Delayed closure of the anterior fontanelle, Micrognathia,... |
OMIM:224300 |
| Fryns Microphthalmia Syndrome |
|
Neural tube defect |
OMIM:600776 |
| Harrod Syndrome |
|
Multicystic kidney dysplasia, Arachnodactyly, Hypospadias, Cryptorchidism, Abnormal shoulder morp... |
ORPHA:2115 |
| Filippi Syndrome |
|
Ventricular septal defect, Single transverse palmar crease, 2-4 toe syndactyly, Cutaneous syndact... |
OMIM:272440 |
| Zellweger Syndrome |
|
Hepatomegaly, Multicystic kidney dysplasia, Hypospadias, Short stature, Malabsorption, Cryptorchi... |
ORPHA:912 |
| Trisomy 1Q |
|
Multicystic kidney dysplasia, Toe syndactyly, Arachnodactyly, Camptodactyly of finger, Cryptorchi... |
ORPHA:261344 |
| Argininemia |
|
Hepatomegaly, Postnatal growth retardation, Micronodular cirrhosis, Cholestasis, Hyperammonemia, ... |
OMIM:207800 |
| Diarrhea 10, Protein-Losing Enteropathy Type |
|
Polyhydramnios, Pericardial effusion, Cryptorchidism, Anasarca, Pleural effusion, Ascites |
OMIM:618183 |
| Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities |
|
Broad hallux, Ventricular septal defect, Clinodactyly of the 2nd toe, Coxa valga, Short distal ph... |
OMIM:620073 |
| Osteogenesis Imperfecta, Type Ix |
|
Wormian bones, Dentinogenesis imperfecta, Short lower limbs |
OMIM:259440 |
| Acth Deficiency, Isolated |
|
Decreased circulating cortisol level, Jaundice, Adrenocorticotropic hormone deficiency, Cholestas... |
OMIM:201400 |
| Neurodevelopmental Disorder With Eye Movement Abnormalities And Ataxia |
|
Atrial septal defect |
OMIM:620094 |
| Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1 |
|
Arthropathy, Clubbing, Large fontanelles, Osteolytic defects of the phalanges of the hand, Palmop... |
OMIM:259100 |
| Craniofacial Dyssynostosis With Short Stature |
|
Agenesis of corpus callosum, Patent ductus arteriosus, Ventricular septal defect, Hydrocephalus |
OMIM:218350 |
| Schisis Association |
|
Encephalocele, Anencephaly, Spina bifida |
ORPHA:63862 |
| Developmental And Epileptic Encephalopathy 66 |
|
Clinodactyly of the 5th finger, Atrial septal defect, Ventricular septal defect, Dextrocardia |
OMIM:618067 |
| Seizures-Scoliosis-Macrocephaly Syndrome |
|
Atrial septal defect, Overlapping toe |
ORPHA:466926 |
| Kinsship Syndrome |
|
Mandibular prognathia, Single transverse palmar crease, Micrognathia, Downturned corners of mouth... |
OMIM:619297 |
| Coronary Arterial Fistula |
|
Bicuspid aortic valve, Cardiomegaly, Patent ductus arteriosus, Coronary artery aneurysm, Abnormal... |
ORPHA:2041 |
| Aase-Smith Syndrome I |
|
Slender finger, Hydrocephalus, Ventricular septal defect, Talipes equinovarus |
OMIM:147800 |
| Gaucher Disease Type 1 |
|
Pericardial effusion, Abnormal myocardium morphology, Ascites, Pedal edema |
ORPHA:77259 |
| Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii |
|
Micromelia, Micrognathia, Abnormal finger morphology, Short palm, Large iliac wing, Clinodactyly ... |
ORPHA:2636 |
| Tyrosinemia, Type Iii |
|
Hypertyrosinemia, 4-hydroxyphenylacetic aciduria, 4-Hydroxyphenylpyruvic aciduria, Elevated hepat... |
OMIM:276710 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 22 |
|
Elevated hepatic transaminase, Elevated circulating dodecanoylcarnitine concentration, Increased ... |
OMIM:619355 |
| Generalized Pseudohypoaldosteronism Type 1 |
|
Hyponatremia, Proportionate short stature, Glucocortocoid-insensitive primary hyperaldosteronism,... |
ORPHA:171876 |
| Monosomy 9Q22.3 |
|
Delayed eruption of teeth, Odontogenic keratocysts of the jaw, Ovarian fibroma, Palmar pits, Narr... |
ORPHA:77301 |
| Peripheral Neuropathy With Variable Spasticity, Exercise Intolerance, And Developmental Delay |
|
Elevated hemoglobin A1c, Malabsorption, 2-3 toe syndactyly, Renal tubular dysfunction, Glucose in... |
OMIM:616539 |
| Fanconi Anemia, Complementation Group I |
|
Ventricular septal defect, Absent thumb, Short thumb, Patent foramen ovale, Hypoplasia of the rad... |
OMIM:609053 |
| Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome |
|
Hyperextensibility of the finger joints, Toe syndactyly, Arachnodactyly, Overlapping toe, Ventric... |
ORPHA:505237 |
| Ciliary Dyskinesia, Primary, 30 |
|
Recurrent respiratory infections, Ventricular septal defect, Dextrocardia, Situs inversus totalis... |
OMIM:616037 |
| Ectodermal Dysplasia 1, Hypohidrotic, X-Linked |
|
Anhidrosis, Everted upper lip vermilion, Absent nipple, Abnormal oral mucosa morphology, Conical ... |
OMIM:305100 |
| Basal Cell Nevus Syndrome 1 |
|
Mandibular prognathia, Vertebral fusion, Odontogenic keratocysts of the jaw, Ovarian fibroma, Dow... |
OMIM:109400 |
| Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Elevated hepatic transaminase, Short humerus, Hepatomegaly, Short femur, Abnormal mitochondrial s... |
ORPHA:17 |
| Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly |
|
Atrial septal defect, Scapular winging, Sandal gap, Single transverse palmar crease, Ventricular ... |
OMIM:617061 |
| Coach Syndrome 3 |
|
Molar tooth sign on MRI |
OMIM:619113 |
| Limb Body Wall Complex |
|
Encephalocele, Atrial septal defect, Duplication of hand bones, Broad hallux, Aplasia/hypoplasia ... |
ORPHA:2369 |
| Phocomelia, Schinzel Type |
|
Hypoplasia of penis, Micromelia, Micrognathia, High, narrow palate, Abnormal tibia morphology, Pr... |
ORPHA:2879 |
| Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature |
|
Varicose veins, Patent ductus arteriosus, Ventricular septal defect, Peripheral arterial stenosis |
OMIM:126320 |
| Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
|
Thin upper lip vermilion, Congenital hip dislocation, Supernumerary nipple, Wide anterior fontane... |
ORPHA:457279 |
| Spherocytosis, Type 1 |
|
Splenomegaly, Jaundice, Cholelithiasis, Hyperbilirubinemia |
OMIM:182900 |
| Formiminoglutamic Aciduria |
|
Atrial septal defect |
ORPHA:51208 |
| Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Ivory epiphyses, Short metacarpal, Bowing of the long bones, Rhizomelia, Metaphyseal spurs, Bowin... |
ORPHA:85167 |
| Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Ventricular septal defect, Pericardial effusion, Dilated cardiomyopathy, Atrial septal defect, Pa... |
ORPHA:26793 |
| Osteoporosis-Pseudoglioma Syndrome |
|
Crumpled long bones, Metaphyseal widening, Wormian bones, Abnormal femoral neck/head morphology, ... |
ORPHA:2788 |
| Charge Syndrome |
|
Abnormal palmar dermatoglyphics, Secundum atrial septal defect, Hand monodactyly, Coloboma, Holop... |
OMIM:214800 |
| 17Q23.1Q23.2 Microdeletion Syndrome |
|
Long toe, Atrial septal defect, Sandal gap, Long fingers, Patent ductus arteriosus, Patellar hypo... |
ORPHA:261279 |
| Smith-Mccort Dysplasia 1 |
|
Short metacarpal, Multicentric femoral head ossification, Iliac crest serration, Hypoplastic scap... |
OMIM:607326 |
| Alagille Syndrome 1 |
|
Multiple small medullary renal cysts, Vesicoureteral reflux, Hypoplasia of the ulna, Renal hypopl... |
OMIM:118450 |
| Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome |
|
Hypoplasia of the ulna, Finger syndactyly, Ventricular septal defect, Aplasia/Hypoplasia of the f... |
ORPHA:2256 |
| Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Limited elbow movement, Micrognathia, Narrow greater sciatic notch, Short phalanx of finger, Broa... |
ORPHA:508533 |
| Severe Congenital Nemaline Myopathy |
|
Pulmonary hypoplasia, Adducted thumb |
ORPHA:171430 |
| Acromesomelic Dysplasia 1 |
|
Short metacarpal, Radial bowing, Broad metatarsal, Short toe, Hypoplasia of the radius, Short met... |
OMIM:602875 |
| Solitary Fibrous Tumor |
|
Abnormal peritoneum morphology, Hypoglycemia, Reduced C-peptide level, Neoplasm of the liver, Rec... |
ORPHA:2126 |
| Simpson-Golabi-Behmel Syndrome |
|
Ureteral duplication, Hypoplasia of penis, Congenital hip dislocation, High, narrow palate, Hepat... |
ORPHA:373 |
| Cole-Carpenter Syndrome |
|
Delayed eruption of teeth, Crumpled long bones, Bowing of the long bones, Abnormal dental enamel ... |
ORPHA:2050 |
| Zechi-Ceide Syndrome |
|
Sandal gap, Short metatarsal, Abnormal heart morphology, Atrial septal defect, Short distal phala... |
ORPHA:217017 |
| Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3 |
|
Mandibular prognathia, High, narrow palate, Deep philtrum, Downturned corners of mouth, Short phi... |
OMIM:619950 |
| Cardiofaciocutaneous Syndrome 1 |
|
Hyperextensibility of the finger joints, Micrognathia, Deep philtrum, Hyperhidrosis, High palate,... |
OMIM:115150 |
| Lujan-Fryns Syndrome |
|
Atrial septal defect, Arachnodactyly, Camptodactyly of finger, Brachydactyly |
ORPHA:776 |
| Multifocal Atrial Tachycardia |
|
Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Hypertrophic cardiomyopathy, ... |
ORPHA:3282 |
| Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Finger syndactyly, Atrial septal defect, Overlapping toe, Single transverse palmar crease, Ventri... |
ORPHA:464738 |
| Woods Syndrome |
|
Ventricular septal defect, Limited elbow extension, 3-4 finger cutaneous syndactyly, Single trans... |
OMIM:615236 |
| Intellectual Developmental Disorder, Autosomal Dominant 48 |
|
Ventricular septal defect, Bicuspid aortic valve, Patent ductus arteriosus, Recurrent pneumonia, ... |
OMIM:617751 |
| Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Low-set, posteriorly rotated ears, Occipital encephalocele, Renal insufficiency, Abnormal acetabu... |
ORPHA:397715 |
| Chromosome 2Q37 Deletion Syndrome |
|
Short metacarpal, Short fourth metatarsal, Hypothyroidism, Sensorineural hearing impairment, Shor... |
OMIM:600430 |
| Distal 22Q11.2 Microduplication Syndrome |
|
Branchial fistula, Toe syndactyly, Ventricular septal defect, Camptodactyly of finger, Tapered fi... |
ORPHA:261337 |
| Fanconi Anemia, Complementation Group B |
|
Ventricular septal defect, Absent thumb, Patent ductus arteriosus, Hydrocephalus, Abnormal lung l... |
OMIM:300514 |
| Cardiofaciocutaneous Syndrome 3 |
|
Atrial septal defect, Hypertrophic cardiomyopathy, Ventricular septal defect, Pulmonic stenosis |
OMIM:615279 |
| Hyperphosphatasia With Impaired Intellectual Development Syndrome 2 |
|
Atrial septal defect, Peripheral pulmonary artery stenosis, Broad hallux, Shortening of all dista... |
OMIM:614749 |
| Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency |
|
Hyponatremia, Decreased circulating cortisol level, Hypoglycemia, Renal salt wasting, Cryptorchid... |
OMIM:614736 |
| Acrofacial Dysostosis 1, Nager Type |
|
Aplasia/Hypoplasia of the thumb, Micrognathia, Foot oligodactyly, Triphalangeal thumb, Conductive... |
OMIM:154400 |
| Barber-Say Syndrome |
|
Mandibular prognathia, Micrognathia, Hypoplasia of the maxilla, High palate, Widely spaced teeth,... |
OMIM:209885 |
| Neuropathy, Congenital, With Arthrogryposis Multiplex |
|
Calcaneovalgus deformity |
OMIM:162370 |
| Fetal Akinesia Deformation Sequence |
|
Pulmonary hypoplasia, Camptodactyly of finger, Absent palmar crease |
ORPHA:994 |
| 16P13.11 Microdeletion Syndrome |
|
Atrial septal defect, Ventricular septal defect, Camptodactyly of finger, Talipes equinovarus, Ho... |
ORPHA:261236 |
| Saethre-Chotzen Syndrome |
|
Hypoplasia of the maxilla, Partial duplication of the distal phalanx of the 3rd finger, Clinodact... |
OMIM:101400 |
| Peters-Plus Syndrome |
|
Ureteral duplication, Short lingual frenulum, Bilobate gallbladder, Single transverse palmar crea... |
OMIM:261540 |
| Inverted Duplicated Chromosome 15 Syndrome |
|
Ventricular septal defect, 2-3 toe syndactyly, Talipes equinovarus, Clinodactyly of the 5th finge... |
ORPHA:3306 |
| Warsaw Breakage Syndrome |
|
Ventricular septal defect, Single transverse palmar crease, Optic disc coloboma, 2-3 toe syndacty... |
OMIM:613398 |
| Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type |
|
Micromelia, Bowing of the legs, Micrognathia, Triangular shaped distal phalanges of the hand, Abn... |
OMIM:271665 |
| Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type |
|
Thyroid dysgenesis, Posteriorly rotated ears, Camptodactyly of finger, Micrognathia, Cryptorchidi... |
ORPHA:3047 |
| Fontaine Progeroid Syndrome |
|
Syndactyly, Atrial septal defect, Prominent superficial veins, Bicuspid aortic valve, Patent duct... |
OMIM:612289 |
| Rothmund-Thomson Syndrome Type 2 |
|
Joint dislocation, Patellar hypoplasia, High palate, Microdontia, Short phalanx of finger, Genu v... |
ORPHA:221016 |
| Joubert Syndrome With Ocular Defect |
|
Encephalocele, Hydrocephalus, Hand polydactyly, Foot polydactyly, Molar tooth sign on MRI |
ORPHA:220493 |
| Ivic Syndrome |
|
Aplastic clavicle, Preaxial hand polydactyly, Short thumb, Hypoplasia of the radius, Radioulnar s... |
ORPHA:2307 |
| Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies |
|
Smooth philtrum, Overlapping toe, Supernumerary nipple, Tapered finger, Cryptorchidism, 2-3 toe s... |
OMIM:618653 |
| Tooth Agenesis, Selective, 3 |
|
Anhidrosis, Oligodontia of primary teeth, Agenesis of permanent molar, Oligodontia, Microdontia |
OMIM:604625 |
| Omodysplasia 1 |
|
Short humerus, Rhizomelia, Increased fibular diameter, Ventricular septal defect, Pulmonary arter... |
OMIM:258315 |
| Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome |
|
Hydrocephalus, Small hand, Camptodactyly, Atrial septal defect, Aortic valve stenosis, Agenesis o... |
ORPHA:459061 |
| Deafness, Autosomal Dominant 87 |
|
Enlarged vestibular aqueduct, Hearing impairment, Incomplete partition of the cochlea type II |
OMIM:620281 |
| Gaucher Disease, Perinatal Lethal |
|
Neonatal death, Pulmonary hypoplasia, Cardiomegaly |
OMIM:608013 |
| Deaf Blind Hypopigmentation Syndrome, Yemenite Type |
|
Delayed eruption of teeth, Macrodontia, High, narrow palate, Sensorineural hearing impairment, Ta... |
ORPHA:3214 |
| Cutis Laxa, Autosomal Recessive, Type Iib |
|
Bowing of the long bones, Congenital hip dislocation, Large fontanelles, Protruding ear, High pal... |
OMIM:612940 |
| Periventricular Nodular Heterotopia 7 |
|
Contracture of the proximal interphalangeal joint of the 2nd finger, Ventricular septal defect, 1... |
OMIM:617201 |
| Mesomelic Dysplasia, Kantaputra Type |
|
Carpal synostosis, Radial bowing, Tarsal synostosis, Mesomelia |
OMIM:156232 |
| Congenital Myopathy 17 |
|
Overlapping toe, Tapered finger, Respiratory tract infection, Pulmonary hypoplasia, Hand clenchin... |
OMIM:618975 |
| Isolated Thyroid-Stimulating Hormone Deficiency |
|
Large posterior fontanelle, Delayed cranial suture closure, Decreased circulating T4 concentratio... |
ORPHA:90674 |
| Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction |
|
Recurrent respiratory infections, Ventricular septal defect, Atelectasis, Cystic pattern on pulmo... |
OMIM:610978 |
| Occipital Horn Syndrome |
|
High, narrow palate, Coxa vara, Humerus varus, Short palm, Large iliac wing, Abnormality of the w... |
ORPHA:198 |
| Blomstrand Lethal Chondrodysplasia |
|
Short metacarpal, Bowing of the long bones, Rhizomelia, Aplastic clavicle, Flared metaphysis, Coa... |
ORPHA:50945 |
| Lathosterolosis |
|
Hepatomegaly, Prominent metopic ridge, Toe syndactyly, Hypoplasia of penis, Micrognathia, Intrahe... |
ORPHA:46059 |
| Tropical Calcific Pancreatitis |
|
Neoplasm of the pancreas, Pancreatic calcification, Chronic pancreatitis |
OMIM:608189 |
| Growth Retardation, Developmental Delay, And Facial Dysmorphism |
|
Ventricular septal defect, Patent ductus arteriosus, Hydrocephalus, Drumstick terminal phalanges,... |
OMIM:612938 |
| Hajdu-Cheney Syndrome |
|
Micrognathia, Absent frontal sinuses, Downturned corners of mouth, Periodontitis, Partial absence... |
ORPHA:955 |
| 20Q13.33 Microdeletion Syndrome |
|
Hallux valgus, Dilation of Virchow-Robin spaces, Tapered finger, Abnormal cardiac ventricle morph... |
ORPHA:261311 |
| Congenital Myopathy 12 |
|
Arachnodactyly, Pulmonary artery stenosis, Camptodactyly, Overlapping fingers, Joint contracture ... |
OMIM:612540 |
| Schuurs-Hoeijmakers Syndrome |
|
Bicuspid aortic valve, Patent ductus arteriosus, Large hands, Abnormal cardiac septum morphology,... |
OMIM:615009 |
| Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome |
|
Ventricular septal defect, Broad 2nd toe, Pulmonary artery stenosis, Tetralogy of Fallot, Palmopl... |
OMIM:280000 |
| Ehlers-Danlos Syndrome, Musculocontractural Type, 2 |
|
Arachnodactyly, Mitral valve prolapse, Bilateral talipes equinovarus, Talipes equinovarus, Campto... |
OMIM:615539 |
| Primary Hepatic Neuroendocrine Carcinoma |
|
Elevated hepatic transaminase, Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Ele... |
ORPHA:100085 |
| Distal Duplication 5Q |
|
Hypoplasia of the ulna, Hypospadias, Short stature, Absent thumb, Cryptorchidism, Hypoplasia of t... |
ORPHA:96097 |
| North American Indian Childhood Cirrhosis |
|
Biliary cirrhosis, Portal hypertension, Prolonged neonatal jaundice |
OMIM:604901 |
| Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency |
|
Adrenal hyperplasia, Hypoglycemia, Hypospadias, Renal salt wasting |
OMIM:201910 |
| Combined Oxidative Phosphorylation Defect Type 39 |
|
Prominent calcaneus, Cryptorchidism, Open mouth, Ankle clonus |
ORPHA:565624 |
| Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Bicuspid aortic valve, Cardiomegaly, Shoulder dislocation, Atrial septal defect, Patent foramen o... |
OMIM:245600 |
| Fixed Subaortic Stenosis |
|
Bicuspid aortic valve, Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Abnorma... |
ORPHA:3092 |
| Premature Aging Syndrome, Penttinen Type |
|
Delayed eruption of teeth, Brachydactyly, Hyperextensibility of the knee, Micrognathia, Hypoplasi... |
OMIM:601812 |
| Renal Hypodysplasia/Aplasia 1 |
|
Pulmonary hypoplasia, Talipes equinovarus |
OMIM:191830 |
| Mullegama-Klein-Martinez Syndrome |
|
Thin upper lip vermilion, Micrognathia, Cleft lip, Sensorineural hearing impairment, Absent stape... |
OMIM:301022 |
| Fanconi Anemia, Complementation Group Q |
|
Short stature, Absent thumb, Esophageal atresia, Biliary atresia, Growth delay, Anteriorly placed... |
OMIM:615272 |
| Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome |
|
Coloboma, Short fourth metatarsal, Patellar hypoplasia, Brachydactyly |
ORPHA:464288 |
| Walker-Warburg Syndrome |
|
Hypoplasia of penis, Posteriorly rotated ears, Cryptorchidism, Submucous cleft hard palate, Cleft... |
ORPHA:899 |
| Joubert Syndrome With Renal Defect |
|
Encephalocele, Hydrocephalus, Hand polydactyly, Molar tooth sign on MRI |
ORPHA:220497 |
| Yunis-Varon Syndrome |
|
Aplasia of the distal phalanges of the hand, Single transverse palmar crease, Micrognathia, High,... |
ORPHA:3472 |
| Porphyria, Congenital Erythropoietic |
|
Hepatomegaly, Alopecia, Absent eyebrow, Short stature, Splenomegaly, Jaundice, Loss of eyelashes,... |
OMIM:263700 |
| Chiari Malformation Type Ii |
|
Cervical myelopathy, Myelomeningocele, Hydrocephalus, Spina bifida |
OMIM:207950 |
| Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies |
|
Dextrotransposition of the great arteries, Lateral ventricle dilatation, Ventricular septal defec... |
OMIM:619995 |
| Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis |
|
Secundum atrial septal defect, Pulmonary fibrosis |
OMIM:611926 |
| Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies |
|
Overlapping toe, Down-sloping shoulders, Ventricular septal defect, Tapered finger, Talipes equin... |
OMIM:617452 |
| Alström Syndrome |
|
Decreased response to growth hormone stimulation test, Urinary incontinence, Functional abnormali... |
ORPHA:64 |
| Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Ventricular septal defect, Single transverse palmar crease, Partial agenesis of the corpus callos... |
ORPHA:79243 |
| Congenital Heart Defects And Skeletal Malformations Syndrome |
|
Atrial septal defect, Arachnodactyly, Sandal gap, Ventricular septal defect, Repeated pneumothora... |
OMIM:617602 |
| Trigonocephaly With Short Stature And Developmental Delay |
|
Clinodactyly of the 5th finger, Ventricular septal defect |
OMIM:314320 |
| Aprosencephaly Syndrome |
|
Aprosencephaly, Anencephaly, Hand oligodactyly |
OMIM:207770 |
| Chromosome 17P13.3, Telomeric, Duplication Syndrome |
|
Contracture of the proximal interphalangeal joint of the 3rd finger, Short metacarpal, Brachydact... |
OMIM:612576 |
| Atrial Septal Defect, Ostium Primum Type |
|
Recurrent respiratory infections, Left atrial enlargement, Clubbing of toes, Right ventricular di... |
ORPHA:99106 |
| Intellectual Developmental Disorder, Autosomal Dominant 58 |
|
Dental crowding, Posteriorly rotated ears, Single transverse palmar crease, Protruding tongue, Su... |
OMIM:618106 |
| Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia |
|
Patent foramen ovale |
OMIM:617182 |
| Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
|
Accessory spleen, Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Microvesicular hepatic steato... |
OMIM:619418 |
| Isolated Klippel-Feil Syndrome |
|
Abnormal shoulder morphology, Ventricular septal defect, Spina bifida |
ORPHA:2345 |
| Bruck Syndrome 2 |
|
Elbow flexion contracture, Knee flexion contracture, Femoral bowing, Hydroxyprolinuria, Talipes e... |
OMIM:609220 |
| Spondyloepiphyseal Dysplasia Congenita |
|
Limited elbow movement, Pierre-Robin sequence, Hip dislocation, Coxa vara, Flattened epiphysis, C... |
OMIM:183900 |
| Pontocerebellar Hypoplasia Type 10 |
|
Abnormal brainstem morphology |
ORPHA:411493 |
| Aorta Coarctation |
|
Bicuspid aortic valve, Pseudocoarctation of the aorta, Cardiomegaly, Patent ductus arteriosus, Hy... |
ORPHA:1457 |
| Birk-Barel Syndrome |
|
Microretrognathia, Tented upper lip vermilion, Single transverse palmar crease, High palate, Shor... |
OMIM:612292 |
| Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome |
|
Aplasia of the thymus, Split hand, Foot polydactyly, Phocomelia, Duodenal atresia |
ORPHA:3004 |
| 46,Xx Sex Reversal 5 |
|
Secundum atrial septal defect, Hypoplastic left heart, Ventricular septal defect |
OMIM:618901 |
| 1P36 Deletion Syndrome |
|
Hypoplasia of penis, Abnormality of the spleen, Renal cyst, Abnormality of the liver, Clinodactyl... |
ORPHA:1606 |
| Poems Syndrome |
|
Pericardial effusion, Pleural effusion, Ascites, Edema |
ORPHA:2905 |
| Osteogenesis Imperfecta |
|
Micromelia, Abnormal tibia morphology, Abnormal femur morphology, Femoral bowing, Abnormal long b... |
ORPHA:666 |
| X-Linked Intellectual Disability, Nascimento Type |
|
Recurrent respiratory infections, Overlapping toe, Ventricular septal defect, Patent ductus arter... |
ORPHA:163956 |
| Raine Syndrome |
|
Bowing of the long bones, Micromelia, Hydrocephalus, Pulmonary hypoplasia, Neonatal death, Long h... |
OMIM:259775 |
| Wildervanck Syndrome |
|
Meningocele |
ORPHA:3456 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 7 |
|
Cryptorchidism, Sensorineural hearing impairment, Proximal renal tubular acidosis, Postaxial poly... |
OMIM:615824 |
| Mosaic Variegated Aneuploidy Syndrome 2 |
|
Atrial septal defect, Rhizomelia, Single transverse palmar crease, Ventricular septal defect, Abn... |
OMIM:614114 |
| Epidermal Nevus Syndrome |
|
Weakness of long finger extensor muscles, Polycystic kidney dysplasia |
ORPHA:35125 |
| Insulin-Like Growth Factor I, Resistance To |
|
Sandal gap, Ventricular septal defect, Small hand, Short foot, Radial deviation of finger, Short ... |
OMIM:270450 |
| Paternal Uniparental Disomy Of Chromosome 5 |
|
Abnormal fibular epiphysis morphology, Rhizomelic arm shortening, Short lower limbs, Secundum atr... |
ORPHA:96190 |
| Multiple Pterygium Syndrome, Escobar Variant |
|
Syndactyly, Arachnodactyly, Rocker bottom foot, Down-sloping shoulders, Patellar aplasia, Hip dis... |
OMIM:265000 |
| Treacher-Collins Syndrome |
|
Hypoplasia of penis, Micrognathia, Hypoplasia of the maxilla, Glossoptosis, Hypoplasia of the thy... |
ORPHA:861 |
| Craniosynostosis, Herrmann-Opitz Type |
|
Finger syndactyly, Micromelia, Split hand, Aplasia/Hypoplasia of the lungs, Brachydactyly |
ORPHA:2145 |
| Chromosome 18Q Deletion Syndrome |
|
Recurrent respiratory infections, Toe syndactyly, Overlapping toe, Rocker bottom foot, Proximal p... |
OMIM:601808 |
| Restrictive Dermopathy 1 |
|
Atrial septal defect, Rocker bottom foot, Patent ductus arteriosus, Hydropic placenta, Overtubula... |
OMIM:275210 |
| Mandibuloacral Dysplasia |
|
Dental crowding, Micrognathia, Abnormal tongue morphology, Hypoplasia of teeth, High palate, Oste... |
ORPHA:2457 |
| Maternal Uniparental Disomy Of Chromosome 2 |
|
Renal insufficiency, Hypospadias, Decreased response to growth hormone stimulation test, Bilatera... |
ORPHA:96179 |
| Retinitis Pigmentosa 51 |
|
Polydactyly, Abnormality of the kidney |
OMIM:613464 |
| Odontochondrodysplasia 2 With Hearing Loss And Diabetes |
|
Moderate albuminuria, Sensorineural hearing impairment, Short toe, Retrognathia, Cone-shaped epip... |
OMIM:619269 |
| Marcus-Gunn Syndrome |
|
Coloboma, Abnormal heart morphology |
ORPHA:91412 |
| Methylmalonic Acidemia With Homocystinuria Type Cblf |
|
Hypomethioninemia, Unilateral renal agenesis, Methylmalonic aciduria, Elevated circulating palmit... |
ORPHA:79284 |
| Crouzon Syndrome |
|
Hypoplasia of the maxilla, Narrow palate, Multiple suture craniosynostosis, Conductive hearing im... |
ORPHA:207 |
| Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Large posterior fontanelle, Delayed epiphyseal ossification, Long fibula, Narrow greater sciatic ... |
OMIM:250220 |
| Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency |
|
Hypertrophic cardiomyopathy, Ventricular septal defect |
OMIM:616277 |
| Mirage Syndrome |
|
Hyponatremia, Recurrent urinary tract infections, Hypoglycemia, Rocker bottom foot, Hypospadias, ... |
OMIM:617053 |
| Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections |
|
Recurrent respiratory infections, Recurrent pneumonia, Bronchiectasis, Pulmonic stenosis, Recurre... |
OMIM:618282 |
| Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly |
|
Atrial septal defect, Single transverse palmar crease, Lateral ventricle dilatation, Clinodactyly... |
OMIM:620075 |
| Chromosome 9P Deletion Syndrome |
|
Long toe, Sandal gap, Ventricular septal defect, Hallux varus, Tapered finger, Patent ductus arte... |
OMIM:158170 |
| Fructose-1,6-Bisphosphatase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Increased urinary glycerol, Hypoglycemia, Hyperurice... |
ORPHA:348 |
| Cardiomyopathy, Dilated, 2D |
|
Perinuclear cardiomyocyte vacuolization, Muscular ventricular septal defect, Dilated cardiomyopat... |
OMIM:619371 |
| Congenital Isolated Acth Deficiency |
|
Hyponatremia, Decreased circulating cortisol level, Hyperkalemia, Hepatitis, Hypoglycemic seizure... |
ORPHA:199296 |
| Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
|
Tented upper lip vermilion, Posteriorly rotated ears, Single transverse palmar crease, Rocker bot... |
OMIM:617527 |
| Pituitary Hormone Deficiency, Combined Or Isolated, 1 |
|
Anterior pituitary hypoplasia, Reduced circulating prolactin concentration, Reduced TSH response ... |
OMIM:613038 |
| Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities |
|
Mandibular prognathia, Hypospadias, Cryptorchidism, Thick lower lip vermilion, Submucous cleft ha... |
OMIM:619103 |
| Otofaciocervical Syndrome 2, With T-Cell Deficiency |
|
Scapular winging, Down-sloping shoulders, Tapered finger, Renal cyst, Clinodactyly |
OMIM:615560 |
| Pallister-Hall Syndrome |
|
Ectopic kidney, Gonadotropin deficiency, Micropenis, Bifid uvula, Low-set, posteriorly rotated ea... |
ORPHA:672 |
| Lateral Meningocele Syndrome |
|
Vertebral fusion, Neurogenic bladder, Wormian bones, Posteriorly rotated ears, Dental crowding, A... |
OMIM:130720 |
| Arterial Tortuosity Syndrome |
|
Ventricular hypertrophy, Carotid artery dissection, Arachnodactyly, Pulmonary artery stenosis, Ao... |
OMIM:208050 |
| Caudal Duplication |
|
Myelomeningocele, Spina bifida |
ORPHA:1756 |
| Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Cholestatic liver disease, Hypoglycemia, Hypoketotic hypoglycemia |
ORPHA:5 |
| Branchiootic Syndrome |
|
Branchial fistula |
ORPHA:52429 |
| Hunter-Macdonald Syndrome |
|
Epiphyseal dysplasia, Thin upper lip vermilion, Hypospadias, Metatarsus adductus, Sensorineural h... |
OMIM:611962 |
| Nicolaides-Baraitser Syndrome |
|
Enlarged joints, Short lingual frenulum, Single transverse palmar crease, High, narrow palate, Sh... |
OMIM:601358 |
| Duane Retraction Syndrome |
|
Aplasia/Hypoplasia of the thumb, Brachydactyly, Micrognathia, External ear malformation, Absent r... |
ORPHA:233 |
| Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Hallux valgus, Abnormality of the spleen, Splenomegaly, Esophageal varix, Hepatosplenomegaly, Gro... |
ORPHA:2072 |
| Bartsocas-Papas Syndrome 1 |
|
Micrognathia, Bilateral cryptorchidism, Hypoplasia of the maxilla, Ectopic kidney, Hypoplastic il... |
OMIM:263650 |
| Marfan Syndrome |
|
Pulmonary artery dilatation, Mitral valve calcification, Arachnodactyly, Protrusio acetabuli, Lim... |
ORPHA:558 |
| Noonan Syndrome 10 |
|
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Mitral valve prolapse,... |
OMIM:616564 |
| Marshall-Smith Syndrome |
|
Irregular dentition, Bilateral cryptorchidism, Distal widening of metacarpals, Coxa vara, Anterio... |
OMIM:602535 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Encephalocele, Hydrocephalus, Dilated cardiomyopathy, Myocardial fibrosis, Transposition of the g... |
OMIM:253800 |
| Opsismodysplasia |
|
Short metacarpal, Posteriorly rotated ears, Rhizomelia, Squared iliac bones, Hypoplastic pubic bo... |
OMIM:258480 |
| Isolated Right Ventricular Hypoplasia |
|
Cardiomegaly, Muscular ventricular septal defect, Clubbing, Atrial septal defect, Patent foramen ... |
ORPHA:439 |
| Immunodeficiency 110 With Lymphoproliferation |
|
Secundum atrial septal defect, Recurrent upper respiratory tract infections, Recurrent pneumonia,... |
OMIM:614868 |
| Ppoma |
|
Neoplasm of the pancreas, Hepatomegaly, Intestinal obstruction, Hypercalcemia, Elevated circulati... |
ORPHA:97278 |
| Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4 |
|
Hallux valgus, Dilation of Virchow-Robin spaces, Sandal gap, Rocker bottom foot, Single transvers... |
OMIM:619951 |
| 7Q31 Microdeletion Syndrome |
|
Hypoplasia of the maxilla, Hypoplasia of the cochlea, Clinodactyly of the 2nd finger, Wide mouth,... |
ORPHA:251061 |
| Autosomal Dominant Kenny-Caffey Syndrome |
|
Stenosis of the medullary cavity of the long bones, Thin long bone diaphyses, Persistence of prim... |
ORPHA:93325 |
| Craniolenticulosutural Dysplasia |
|
Delayed eruption of teeth, Thin upper lip vermilion, Delayed closure of the anterior fontanelle, ... |
OMIM:607812 |
| Dubowitz Syndrome |
|
Delayed eruption of teeth, Syndactyly, Hypospadias, Single transverse palmar crease, Micrognathia... |
OMIM:223370 |
| Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome |
|
Atrial septal defect, Postaxial hand polydactyly, Patent ductus arteriosus, Ventricular septal de... |
ORPHA:2519 |
| Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
|
Cleft soft palate, Intestinal malrotation, Renal hypoplasia, Genu valgum, Downturned corners of m... |
OMIM:619321 |
| Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
|
Rhizomelia, Metaphyseal cupping of proximal phalanges, Metaphyseal cupping of metacarpals, Hypopl... |
OMIM:300863 |
| 8P Inverted Duplication/Deletion Syndrome |
|
Small hypothenar eminence, Frontal balding, Long fingers, Cryptorchidism, Synophrys, Hip dislocat... |
ORPHA:96092 |
| Adnp Syndrome |
|
Thin upper lip vermilion, Broad hallux, Single transverse palmar crease, Sandal gap, Urinary inco... |
ORPHA:404448 |
| Floating-Harbor Syndrome |
|
Short middle phalanx of the 2nd finger, Glandular hypospadias, Downturned corners of mouth, Nephr... |
OMIM:136140 |
| White-Sutton Syndrome |
|
Mandibular prognathia, Posteriorly rotated ears, Micrognathia, Sensorineural hearing impairment, ... |
OMIM:616364 |
| Marbach-Rustad Progeroid Syndrome |
|
Femur fracture, Delayed eruption of primary teeth, Micrognathia, Eruption failure, Short clavicle... |
OMIM:619322 |
| Lethal Hemolytic Anemia-Genital Anomalies Syndrome |
|
Aplasia/Hypoplasia of the lungs, Sandal gap |
ORPHA:1046 |
| Van Esch-O'Driscoll Syndrome |
|
Atrial septal defect, Ventricular septal defect, Pulmonary artery stenosis, Spina bifida occulta,... |
OMIM:301030 |
| Osteogenesis Imperfecta, Type Ii |
|
Crumpled long bones, Broad long bones, Wormian bones, Large fontanelles, Tibial bowing, Abnormal ... |
OMIM:166210 |
| Lennox-Gastaut Syndrome |
|
Abnormal brainstem morphology |
ORPHA:2382 |
| Ehlers-Danlos Syndrome, Cardiac Valvular Type |
|
Calcaneovalgus deformity, Genu recurvatum |
OMIM:225320 |
| Chondrodysplasia Punctata 2, X-Linked Dominant |
|
Rhizomelia, Abnormal pinna morphology, Postaxial polydactyly, Epiphyseal stippling, Abnormal pelv... |
OMIM:302960 |
| Burn-Mckeown Syndrome |
|
Atrial septal defect, Ventricular septal defect, 2-3 toe syndactyly |
OMIM:608572 |
| Genitopatellar Syndrome |
|
Hip contracture, Congenital hip dislocation, Ventricular septal defect, Patellar aplasia, Inferio... |
OMIM:606170 |
| Nabais Sa-De Vries Syndrome, Type 2 |
|
Multicystic kidney dysplasia, Tapered finger, Sparse eyebrow, Bilateral cleft lip and palate, Hig... |
OMIM:618829 |
| Developmental And Epileptic Encephalopathy 90 |
|
Atrial septal defect |
OMIM:301058 |
| Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia |
|
Ventricular septal defect, Patent ductus arteriosus, Optic disc coloboma, Recurrent pneumonia, Ag... |
OMIM:300472 |
| Achondrogenesis Type 1A |
|
Micromelia, Short foot, Aplasia/Hypoplasia of the lungs, Short palm, Umbilical hernia |
ORPHA:93299 |
| Glycerol Kinase Deficiency |
|
Hypertriglyceridemia, Hypoglycemia, Increased urinary glycerol, Hyperglycerolemia, Chronic pancre... |
OMIM:307030 |
| Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
|
Renal cortical atrophy, Impaired renal uric acid clearance, Tubular basement membrane disintegrat... |
OMIM:174000 |
| Polyendocrine-Polyneuropathy Syndrome |
|
Hypoglycemia, Anterior pituitary hypoplasia, Elevated hemoglobin A1c, Short stature, Postnatal gr... |
OMIM:616113 |
| Achondrogenesis Type 1B |
|
Micromelia, Short foot, Aplasia/Hypoplasia of the lungs, Talipes equinovarus, Umbilical hernia |
ORPHA:93298 |
| Frontoocular Syndrome |
|
Atrial septal defect, Pulmonic stenosis |
OMIM:605321 |
| Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease |
|
Increased urinary cortisol level, Alopecia, Paradoxical increased cortisol secretion on dexametha... |
ORPHA:189427 |
| Polyendocrine-Polyneuropathy Syndrome |
|
Alopecia, Hypoinsulinemia, Hypoglycemia, Anterior pituitary hypoplasia, Postnatal growth retardat... |
ORPHA:453533 |
| Caudal Regression Syndrome |
|
Abnormal pelvic girdle bone morphology, Pulmonary hypoplasia, Abnormal iliac wing morphology, Tal... |
ORPHA:3027 |
| Catel-Manzke Syndrome |
|
Joint dislocation, Single transverse palmar crease, Micrognathia, Glossoptosis, High palate, Clin... |
OMIM:616145 |
| Chromosome 10Q26 Deletion Syndrome |
|
Atrial septal defect, Scapular winging, Congenital hip dislocation, Toe syndactyly, Single transv... |
OMIM:609625 |
| Hypertelorism-Hypospadias-Polysyndactyly Syndrome |
|
Abnormal penis morphology, Finger syndactyly, Broad hallux phalanx, Encephalocele, Posteriorly ro... |
ORPHA:2211 |
| Aortic Valve Disease 2 |
|
Bicuspid aortic valve, Calcification of the aorta, Aortic tortuosity, Coarctation of aorta, Ascen... |
OMIM:614823 |
| Cutis Laxa, Autosomal Dominant 3 |
|
Unilateral renal agenesis, Hip dislocation, Protruding ear, Talipes equinovarus, Low-set ears, Wo... |
OMIM:616603 |
| Tatton-Brown-Rahman Syndrome |
|
Short toe, Patent ductus arteriosus, Widely spaced toes, Aortic root aneurysm, Atrial septal defe... |
ORPHA:404443 |
| Isolated Childhood Apraxia Of Speech |
|
High, narrow palate, Overfolded helix, Submucous cleft hard palate |
ORPHA:209908 |
| Jansen-De Vries Syndrome |
|
Bicuspid aortic valve, Ventricular septal defect, Small hand, Short foot, Brachydactyly |
OMIM:617450 |
| Focal Dermal Hypoplasia |
|
Ureteral duplication, Congenital hip dislocation, Osteopathia striata, Short metatarsal, Anterior... |
OMIM:305600 |
| Rothmund-Thomson Syndrome Type 1 |
|
Delayed eruption of teeth, Short metacarpal, Abnormal dental enamel morphology, Abnormality of th... |
ORPHA:221008 |
| Mycophenolate Mofetil Embryopathy |
|
Ventricular septal defect, Hydrocephalus, Coarctation of aorta, Foot polydactyly, Chorioretinal c... |
ORPHA:268249 |
| Developmental And Epileptic Encephalopathy 102 |
|
Atrial septal defect, Situs inversus totalis |
OMIM:619881 |
| De Barsy Syndrome |
|
Delayed eruption of teeth, Congenital hip dislocation, Delayed closure of the anterior fontanelle... |
ORPHA:2962 |
| Kleefstra Syndrome |
|
Recurrent respiratory infections, Ventricular septal defect, Bicuspid aortic valve, Pulmonary art... |
ORPHA:261494 |
| Joubert Syndrome 3 |
|
Molar tooth sign on MRI, Elongated superior cerebellar peduncle |
OMIM:608629 |
| Adult Krabbe Disease |
|
Abnormal pons morphology, Abnormal medulla oblongata morphology, Abnormal midbrain morphology |
ORPHA:206448 |
| Sickle Cell Disease |
|
Hepatomegaly, Renal insufficiency, Cardiomegaly, Splenomegaly, Jaundice, Splenic infarction, Hema... |
OMIM:603903 |
| Trisomy 20P |
|
Finger syndactyly, Hypospadias, Camptodactyly of finger, Highly arched eyebrow, Thick hair, Abnor... |
ORPHA:261318 |
| Vacterl With Hydrocephalus |
|
Spina bifida, Aqueductal stenosis, Hydrocephalus, Hypoplasia of the radius, Hip dislocation, Pulm... |
ORPHA:3412 |
| Q Fever |
|
Pericarditis, Abnormal heart valve morphology, Pericardial effusion, Myocarditis, Endocarditis, P... |
ORPHA:781 |
| Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome |
|
Ventricular septal defect, Hypoplastic left heart, Micromelia |
ORPHA:2772 |
| Marden-Walker Syndrome |
|
Abnormal penis morphology, Multicystic kidney dysplasia, Hydroureter, Arachnodactyly, Posteriorly... |
ORPHA:2461 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type |
|
Hyperextensibility of the finger joints, Ventricular septal defect, Arachnodactyly, Ascending tub... |
OMIM:309520 |
| Aortic Valve Disease 1 |
|
Ventricular septal defect, Bicuspid aortic valve, Mitral atresia, Aortic valve calcification, Dou... |
OMIM:109730 |
| Thauvin-Robinet-Faivre Syndrome |
|
Ventricular septal defect, Bowing of the legs, Mitral valve prolapse, Coloboma, Large hands, Vari... |
OMIM:617107 |
| Fructose Intolerance, Hereditary |
|
Elevated hepatic transaminase, Hepatomegaly, Transient aminoaciduria, Hyperphosphaturia, Hypoglyc... |
OMIM:229600 |
| Holoprosencephaly 13, X-Linked |
|
Ventricular septal defect, Cyclopia, Alobar holoprosencephaly, Patent ductus arteriosus, Agenesis... |
OMIM:301043 |
| Osteogenesis Imperfecta, Type Xviii |
|
Bowing of the long bones, Abnormality of the dentition, Micrognathia, Femoral bowing, Wormian bon... |
OMIM:617952 |
| X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability |
|
Congenital hip dislocation, High palate, Short stature, Tapered finger, Cyst of the ductus choled... |
ORPHA:480880 |
| Fructose-1,6-Bisphosphatase Deficiency |
|
Hepatomegaly, Increased urinary glycerol, Hypoglycemia |
OMIM:229700 |
| Oculoauriculofrontonasal Syndrome |
|
Encephalocele, Ventricular septal defect |
ORPHA:398156 |
| Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia |
|
Brachydactyly, Aplasia/Hypoplasia of the fibula, Split foot, Short phalanx of finger, Fibular apl... |
OMIM:113310 |
| Lacrimoauriculodentodigital Syndrome |
|
Micrognathia, Xerostomia, Orofacial cleft, Conductive hearing impairment, Microdontia, Abnormal s... |
ORPHA:2363 |
| Craniofacioskeletal Syndrome |
|
Absent gallbladder, Hypospadias, Short stature, Cryptorchidism, Small hand, Cleft palate, Short f... |
OMIM:300712 |
| Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Optic disc coloboma, Agenesis of corpus call... |
ORPHA:52055 |
| Humero-Radial Synostosis |
|
Meningocele |
ORPHA:3265 |
| Dyrk1A-Related Intellectual Disability Syndrome |
|
Hallux valgus, Toe syndactyly, Arachnodactyly, Hypospadias, Unilateral renal agenesis, Anterior p... |
ORPHA:464306 |
| Digeorge Syndrome |
|
Ventricular septal defect, Atelectasis, Patent ductus arteriosus, Recurrent pneumonia, Recurrent ... |
OMIM:188400 |
| Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency |
|
Syndactyly, Ventricular septal defect, Abnormality of the hand, Abnormal heart morphology, Campto... |
ORPHA:369891 |
| Infantile Liver Failure Syndrome 2 |
|
Elevated hepatic transaminase, Acute hepatic failure, Hypoglycemia, Jaundice, Hyperammonemia |
OMIM:616483 |
| Joubert Syndrome 8 |
|
Molar tooth sign on MRI, Occipital encephalocele |
OMIM:612291 |
| Ayme-Gripp Syndrome |
|
Mandibular prognathia, Smooth philtrum, Brachydactyly, Thin upper lip vermilion, Posteriorly rota... |
OMIM:601088 |
| Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
|
Large posterior fontanelle, Ectopic posterior pituitary, Anterior pituitary hypoplasia, Decreased... |
ORPHA:226307 |
| Usher Syndrome Type 3 |
|
Abnormal cochlea morphology, Sensorineural hearing impairment, Vestibular hypofunction |
ORPHA:231183 |
| Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Mandibular prognathia, Hyperextensibility of the finger joints, Internally rotated shoulders, Dec... |
OMIM:619503 |
| Cardiomyopathy, Dilated, 1Oo |
|
Atrial septal defect, Dilated cardiomyopathy |
OMIM:620247 |
| Pseudo-Torch Syndrome 2 |
|
Cerebral hemorrhage, Secundum atrial septal defect, Patent ductus arteriosus, Lateral ventricle d... |
OMIM:617397 |
| Intellectual Developmental Disorder, Autosomal Recessive 65 |
|
Secundum atrial septal defect, Partial agenesis of the corpus callosum, Contracture of the proxim... |
OMIM:618109 |
| Retinitis Pigmentosa With Or Without Skeletal Anomalies |
|
Metaphyseal dysplasia, Short metacarpal, Metaphyseal chondrodysplasia, Renal cyst, Horseshoe kidn... |
OMIM:250410 |
| Myotonic Dystrophy 1 |
|
Cholelithiasis, Testicular atrophy, Frontal balding |
OMIM:160900 |
| Grfoma |
|
Neoplasm of the pancreas, Hepatomegaly, Intestinal obstruction, Hypercalcemia, Elevated circulati... |
ORPHA:97261 |
| Glutaric Acidemia I |
|
Hepatomegaly, Ketonuria, Hypoglycemia, Glutaric aciduria, Elevated circulating glutaric acid conc... |
OMIM:231670 |
| Steinfeld Syndrome |
|
Absent gallbladder, Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Abnormal pinna morph... |
OMIM:184705 |
| Mitochondrial Complex I Deficiency, Nuclear Type 20 |
|
Elevated hepatic transaminase, Dicarboxylic aciduria, Hypoglycemia, Microvesicular hepatic steato... |
OMIM:611126 |
| Tetrasomy 9P |
|
Pericarditis, Hypoplastic scapulae, Abnormal mitral valve morphology, Dextrocardia, Juxtaductal c... |
ORPHA:3310 |
| Arachnodactyly-Abnormal Ossification-Intellectual Disability Syndrome |
|
Arachnodactyly, Delayed cranial suture closure, Micrognathia |
ORPHA:1129 |
| Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Overriding aorta, Ventricular septal defect, Single transverse palmar crease, Hydrocephalus, Colp... |
OMIM:309801 |
| Distal Renal Tubular Acidosis |
|
Hyperphosphaturia, Hypocitraturia, Nephrolithiasis, Renal cyst, Hypercalciuria, Nephrocalcinosis,... |
ORPHA:18 |
| Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis |
|
Arachnodactyly, Rocker bottom foot, Ulnar bowing, Humeroradial synostosis, Hydrocephalus, Femoral... |
OMIM:207410 |
| Fetal Akinesia Deformation Sequence 1 |
|
Hip contracture, Ulnar deviation of the hand, Rocker bottom foot, Camptodactyly of finger, Hydroc... |
OMIM:208150 |
| Yellow Fever |
|
Acute pancreatitis, Anuria, Renal insufficiency, Elevated circulating aspartate aminotransferase ... |
ORPHA:99829 |
| Mandibuloacral Dysplasia Progeroid Syndrome |
|
Palmoplantar hyperkeratosis, Glucose intolerance, High palate, Macrovesicular hepatic steatosis, ... |
OMIM:619127 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies |
|
Hepatomegaly, Hypoglycemia, Tapered finger, Synophrys, Hip dislocation, Cleft palate, Genu valgum... |
OMIM:301066 |
| Gaucher Disease Type 3 |
|
Mitral valve calcification, Abnormal heart valve morphology, Pericardial effusion, Aortic valve c... |
ORPHA:77261 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 6 |
|
Shoulder girdle muscle weakness, Patent foramen ovale |
OMIM:615156 |
| Bryant-Li-Bhoj Neurodevelopmental Syndrome 1 |
|
Toe syndactyly, Bicuspid aortic valve, Single transverse palmar crease, Dilation of Virchow-Robin... |
OMIM:619720 |
| Familial Multiple Lipomatosis |
|
Coloboma, Bowing of the long bones, Abnormal tricuspid valve morphology |
ORPHA:199276 |
| Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome |
|
Aplasia/Hypoplasia of the thumb, Patellar aplasia, Abnormal fibula morphology, Aplasia/Hypoplasia... |
ORPHA:988 |
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3 |
|
Hypoplasia of the ulna, Ureteral stenosis, Hydroureter, Hypercalciuria, Renal cyst, Nephrocalcino... |
OMIM:615398 |
| Attenuated Familial Adenomatous Polyposis |
|
Duodenal polyposis, Neoplasm of the stomach, Rectal polyposis, Adenomatous colonic polyposis, Mul... |
ORPHA:220460 |
| Sarcoidosis |
|
Hepatomegaly, Alopecia, Hyperthyroidism, Renal insufficiency, Hypercalcemia, Portal hypertension,... |
ORPHA:797 |
| Zaki Syndrome |
|
Toe syndactyly, Long fingers, Patent ductus arteriosus, Ectrodactyly, Broad distal phalanx of fin... |
OMIM:619648 |
| Deafness-Hypogonadism Syndrome |
|
Stapes ankylosis, Abnormality of the middle ear ossicles, Severe conductive hearing impairment, C... |
ORPHA:90646 |
| Bruck Syndrome |
|
Wormian bones, Bowing of the long bones, Talipes equinovarus, Pterygium |
ORPHA:2771 |
| Coffin-Siris Syndrome 12 |
|
Micrognathia, Protruding ear, High palate, Hypothyroidism, Simple ear, Hypospadias, Cryptorchidis... |
OMIM:619325 |
| Hereditary Elliptocytosis |
|
Postnatal growth retardation, Splenomegaly, Jaundice, Hyperbilirubinemia, Prolonged neonatal jaun... |
ORPHA:288 |
| Townes-Brocks Syndrome 1 |
|
Short metatarsal, Triphalangeal thumb, Vesicoureteral reflux, 2-4 finger syndactyly, Multicystic ... |
OMIM:107480 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 5 |
|
Atrial septal defect |
OMIM:615160 |
| X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Long toe, Hyperextensibility of the finger joints, Ventricular septal defect, Rocker bottom foot,... |
ORPHA:163979 |
| Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Atrial septal defect, Patent ductus arteriosus, Coarctation of aorta |
OMIM:614857 |
| Bloom Syndrome |
|
Syndactyly, Cryptorchidism, Agenesis of maxillary lateral incisor, Protruding ear, Azoospermia, H... |
OMIM:210900 |
| Ebstein Malformation Of The Tricuspid Valve |
|
Abnormal endocardium morphology, Patent ductus arteriosus, Ebstein anomaly of the tricuspid valve... |
ORPHA:1880 |
| Trisomy 18 |
|
Ventricular septal defect, Camptodactyly of finger, Spina bifida, Postaxial hand polydactyly, Ane... |
ORPHA:3380 |
| Osteogenesis Imperfecta, Type I |
|
Otosclerosis, Femoral bowing, Hip dysplasia, Finger joint hypermobility, Wormian bones, Dentinoge... |
OMIM:166200 |
| Gapo Syndrome |
|
Hepatomegaly, Delayed closure of the anterior fontanelle, Micrognathia, Wide anterior fontanel, H... |
OMIM:230740 |
| Congenital Myopathy 22B, Severe Fetal |
|
Hip contracture, Scapular winging, Tapered toe, Shoulder flexion contracture, Elbow flexion contr... |
OMIM:620369 |
| Muscle-Eye-Brain Disease |
|
Hydrocephalus, Meningocele, Holoprosencephaly |
ORPHA:588 |
| Brachymorphism-Onychodysplasia-Dysphalangism Syndrome |
|
Atrial septal defect, Abnormal mitral valve morphology, Symphalangism affecting the phalanges of ... |
ORPHA:1292 |
| Umbilical Cord Ulceration-Intestinal Atresia Syndrome |
|
Abnormal aortic morphology, Ventricular septal defect, Abnormal tricuspid valve morphology |
ORPHA:3405 |
| Diamond-Blackfan Anemia 7 |
|
Small hypothenar eminence, Ventricular septal defect, Secundum atrial septal defect, Short thumb,... |
OMIM:612562 |
| Mitochondrial Complex Ii Deficiency, Nuclear Type 3 |
|
Dilated cardiomyopathy, Left ventricular noncompaction, Aspiration pneumonia, Neonatal death, Lef... |
OMIM:619167 |
| Schimmelpenning-Feuerstein-Mims Syndrome |
|
Abnormal toe morphology, Coloboma, Abnormal finger morphology, Coarctation of aorta |
OMIM:163200 |
| Houge-Janssens Syndrome 3 |
|
Atrial septal defect, Umbilical hernia, Muscular ventricular septal defect, Single transverse pal... |
OMIM:618354 |
| 2P15P16.1 Microdeletion Syndrome |
|
Multicystic kidney dysplasia, Sandal gap, Camptodactyly of finger, Supernumerary nipple, Tapered ... |
ORPHA:261349 |
| 19P13.12 Microdeletion Syndrome |
|
Short palm, Finger syndactyly, Atrial septal defect, Sandal gap, Ventricular septal defect, Deep ... |
ORPHA:254346 |
| Meester-Loeys Syndrome |
|
Aortic dissection, Arachnodactyly, Mitral valve prolapse, Ascending tubular aorta aneurysm, Aorti... |
OMIM:300989 |
| Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type) |
|
Acute hepatic failure, Hepatomegaly, Autoamputation of digits, Hypoglycemia, Elevated circulating... |
OMIM:256810 |
| Osteogenesis Imperfecta, Type Xxi |
|
Coxa valga, Bowing of the legs, Coxa vara, Wormian bones, Bowing of the arm |
OMIM:619131 |
| Wrinkly Skin Syndrome |
|
Congenital hip dislocation, Coxa vara, High palate, Microdontia, Microretrognathia, Scapular wing... |
OMIM:278250 |
| Treacher Collins Syndrome 1 |
|
Cleft soft palate, Micrognathia, Cryptorchidism, Cleft palate, Wide mouth, Microtia, Abnormal par... |
OMIM:154500 |
| Mitochondrial Trifunctional Protein Deficiency |
|
Hypoparathyroidism, Diffuse hepatic steatosis, Cholestasis, Equinus calcaneus |
ORPHA:746 |
| Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome |
|
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect, Brachydactyly |
ORPHA:457193 |
| Distal Xq28 Microduplication Syndrome |
|
Metatarsus adductus, Patent ductus arteriosus, Recurrent upper respiratory tract infections, Clin... |
ORPHA:293939 |
| Cardiofaciocutaneous Syndrome |
|
Low-set, posteriorly rotated ears, Abnormal morphology of ulna, Cryptorchidism, Submucous cleft h... |
ORPHA:1340 |
| Sotos Syndrome |
|
Ventricular septal defect, Muscular ventricular septal defect, Long metacarpals, Partial agenesis... |
OMIM:117550 |
| Bare Lymphocyte Syndrome, Type Ii |
|
Viral hepatitis, Recurrent urinary tract infections, Villous atrophy, Cholangitis, Malabsorption,... |
OMIM:209920 |
| Achondrogenesis |
|
Aplasia/Hypoplasia of the lungs, Umbilical hernia, Micromelia |
ORPHA:932 |
| Yunis-Varon Syndrome |
|
Congenital hip dislocation, Single transverse palmar crease, Micrognathia, Short metatarsal, Palm... |
OMIM:216340 |
| Kury-Isidor Syndrome |
|
Finger syndactyly, Ventricular septal defect, Rocker bottom foot, Proximal placement of thumb, Hi... |
OMIM:619762 |
| Noonan Syndrome With Multiple Lentigines |
|
Abnormal endocardium morphology, Scapular winging, Abnormal pulmonary valve morphology, Spina bif... |
ORPHA:500 |
| Hypomandibular Faciocranial Dysostosis |
|
Atrial septal defect, Recurrent respiratory infections, Patent ductus arteriosus, Optic disc colo... |
ORPHA:1790 |
| Gastrointestinal Defects And Immunodeficiency Syndrome 2 |
|
Interstitial emphysema, Bronchiectasis, Bilateral talipes equinovarus, Pulmonary hypoplasia, Over... |
OMIM:619708 |
| Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Hypoparathyroidism, Hypertriglyceridemia, Hypercalcemia, High, narrow palate, Low alkaline phosph... |
ORPHA:369837 |
| Dehydrated Hereditary Stomatocytosis |
|
Increased circulating lactate dehydrogenase concentration, Portal vein thrombosis, Increased circ... |
ORPHA:3202 |
| Restrictive Dermopathy |
|
Dextrocardia, Camptodactyly of finger, Large placenta, Patent ductus arteriosus, Ascending tubula... |
ORPHA:1662 |
| Osteogenesis Imperfecta, Type Xi |
|
Protrusio acetabuli, Coxa vara, Wormian bones, Dentinogenesis imperfecta, Hearing impairment |
OMIM:610968 |
| Pontocerebellar Hypoplasia, Type 17 |
|
Secundum atrial septal defect, Patent ductus arteriosus, Ventricular septal defect |
OMIM:619909 |
| Potocki-Lupski Syndrome |
|
Atrial septal defect, Patent foramen ovale |
OMIM:610883 |
| Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder |
|
Ventricular septal defect, Camptodactyly, Atrial septal defect, Clinodactyly, Spina bifida occult... |
OMIM:617360 |
| Cystic Fibrosis |
|
Hepatomegaly, Meconium ileus, Rectal prolapse, Ileus, Biliary cirrhosis, Hypercalciuria, Hepatosp... |
OMIM:219700 |
| Pituitary Stalk Interruption Syndrome |
|
Ectopic posterior pituitary, Hypoplasia of penis, Hypoglycemia, Short stature, Cryptorchidism, De... |
ORPHA:95496 |
| Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Ventricular septal defect, Single transverse palmar crease, Recurrent pneumonia, 2-3 toe syndacty... |
OMIM:616449 |
| Mitochondrial Trifunctional Protein Deficiency 2 |
|
Increased circulating NT-proBNP concentration, Hypoglycemia, Elevated circulating creatine kinase... |
OMIM:620300 |
| Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1 |
|
Recurrent respiratory infections, Secundum atrial septal defect, Short foot, Clinodactyly of the ... |
OMIM:619758 |
| Chand Syndrome |
|
Short fifth metatarsal, Hydroureter, Cleft palate, Agenesis of permanent teeth, Hypohidrosis, Abn... |
ORPHA:1401 |
| Combined Oxidative Phosphorylation Deficiency 40 |
|
Decreased circulating cortisol level, Hypoglycemia, Elevated circulating creatine kinase concentr... |
OMIM:618835 |
| Noonan Syndrome 13 |
|
Overlapping toe, Tapered finger, Metatarsus adductus, Mitral valve prolapse, Bilateral talipes eq... |
OMIM:619087 |
| Aniridia-Cerebellar Ataxia-Intellectual Disability Syndrome |
|
Aniridia, Abnormality of the pulmonary artery |
ORPHA:1065 |
| Immunodeficiency 59 And Hypoglycemia |
|
Hepatomegaly, Hypoglycemia, Short stature, Malabsorption, High palate, Prolonged neonatal jaundic... |
OMIM:233600 |
| Zttk Syndrome |
|
Absent gallbladder, Polyuria, Craniosynostosis, Abnormality of the dentition, Hypoplasia of the m... |
OMIM:617140 |
| Gallbladder Neuroendocrine Tumor |
|
Biliary tract neoplasm, Extrahepatic cholestasis, Intermittent jaundice, Cholecystitis, Elevated ... |
ORPHA:100086 |
| Combined Oxidative Phosphorylation Deficiency 42 |
|
Decreased circulating cortisol level, Hypoglycemia, Elevated circulating creatine kinase concentr... |
OMIM:618839 |
| Neurocardiofaciodigital Syndrome |
|
Syndactyly, Patent ductus arteriosus, Double inlet left ventricle, Lateral ventricle dilatation, ... |
OMIM:619869 |
| Noonan Syndrome 2 |
|
Atrial septal defect, Abnormal coronary artery origin, Mitral stenosis, Ventricular septal defect... |
OMIM:605275 |
| Neu-Laxova Syndrome |
|
Large hands, Spina bifida, Pulmonary hypoplasia, Micromelia |
ORPHA:2671 |
| Intellectual Disability-Coarse Face-Macrocephaly-Cerebellar Hypotrophy Syndrome |
|
Patent ductus arteriosus, Talipes equinovarus, Camptodactyly, Atrial septal defect, Clinodactyly,... |
ORPHA:397709 |
| Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1 |
|
Spinal dysraphism, Hypoplastic left heart, Aortic valve stenosis, Atrial septal defect, Mitral st... |
OMIM:617660 |
| Galloway-Mowat Syndrome 7 |
|
Hallux valgus, Arachnodactyly, Single transverse palmar crease, Ventricular septal defect, Partia... |
OMIM:618348 |
| Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities |
|
Secundum atrial septal defect, Pulmonic stenosis |
OMIM:178650 |
| Periventricular Nodular Heterotopia 9 |
|
Prominent metopic ridge, Everted upper lip vermilion, Posteriorly rotated ears, Single transverse... |
OMIM:618918 |
| Osteogenesis Imperfecta, Type Xx |
|
Mandibular prognathia, Tented upper lip vermilion, Posteriorly rotated ears, Narrow palate, Agene... |
OMIM:618644 |
| Familial Cutaneous Collagenoma |
|
Atrial septal defect, Cardiomyopathy |
ORPHA:53296 |
| Choanal Atresia |
|
Chronic sinusitis, Polydactyly, Craniosynostosis |
ORPHA:137914 |
| Diamond-Blackfan Anemia |
|
Hypospadias, Cleft soft palate, Absent thumb, Micrognathia, Short thumb, Partial duplication of t... |
ORPHA:124 |
| Lethal Kniest-Like Dysplasia |
|
Abnormal ischium morphology, Broad long bones, Mesomelic/rhizomelic limb shortening, Hypoplastic ... |
ORPHA:2347 |
| Congenital Pulmonary Valvar Stenosis |
|
Atrial septal defect |
ORPHA:3189 |
| 19Q13.11 Microdeletion Syndrome |
|
Finger syndactyly, Recurrent respiratory infections, Toe syndactyly, Congenital hip dislocation, ... |
ORPHA:217346 |
| Chondrodysplasia-Difference Of Sex Development Syndrome |
|
Short metacarpal, Broad long bones, Micromelia, Abnormal shoulder morphology, Abnormal pelvic gir... |
ORPHA:1422 |
| Congenital Disorder Of Glycosylation, Type Ig |
|
Short humerus, Short femur, Rhizomelia, Sandal gap, Patent ductus arteriosus, Hypoplasia of the r... |
OMIM:607143 |
| Fraser Syndrome 1 |
|
Encephalocele, Aplasia/Hypoplasia of the thumb, Myelomeningocele, Aplasia/Hypoplasia of the phala... |
OMIM:219000 |
| Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome |
|
Abnormal lung lobation, Abnormal femur morphology, Upper limb asymmetry, Abnormal fibula morpholo... |
ORPHA:2063 |
| X-Linked Intellectual Disability, Hedera Type |
|
Hyporeflexia of upper limbs, Calcaneovalgus deformity |
ORPHA:93952 |
| Ehlers-Danlos Syndrome, Arthrochalasia Type, 2 |
|
Hallux valgus, Hyperextensibility of the finger joints, Hip dislocation, Bladder diverticulum, Jo... |
OMIM:617821 |
| Perlman Syndrome |
|
Distal ileal atresia, Nephrogenic rest, Hypoglycemia, Renal hamartoma, Cryptorchidism, Nephroblas... |
OMIM:267000 |
| Marfan Syndrome |
|
Pulmonary artery dilatation, Aortic dissection, Arachnodactyly, Protrusio acetabuli, Bicuspid aor... |
OMIM:154700 |
| Criss-Cross Heart |
|
Ventricular septal defect, Tricuspid stenosis, Transposition of the great arteries, Pulmonic sten... |
ORPHA:1461 |
| Okamoto Syndrome |
|
Ureteropelvic junction obstruction, Exaggerated median tongue furrow, Prominent metopic ridge, Te... |
ORPHA:2729 |
| Kid Syndrome |
|
Angular cheilitis, Lip fissure, Equinus calcaneus, Coxa valga, Abnormality of the dentition, Prel... |
ORPHA:477 |
| Spondyloepimetaphyseal Dysplasia, Genevieve Type |
|
Thick lower lip vermilion, Flared metaphysis, Advanced ossification of carpal bones, Flat acetabu... |
OMIM:610442 |
| Donnai-Barrow Syndrome |
|
Umbilical hernia, Ventricular septal defect, Iris coloboma |
ORPHA:2143 |
| Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria |
|
Metaphyseal widening, D-2-hydroxyglutaric aciduria, Metaphyseal chondromatosis of radius, Short p... |
ORPHA:99646 |
| Degcags Syndrome |
|
Synophrys, Bilateral renal hypoplasia, Low anterior hairline, Premature graying of hair, High pal... |
OMIM:619488 |
| Chilton-Okur-Chung Neurodevelopmental Syndrome |
|
Mandibular prognathia, Short fourth metatarsal, Anterior pituitary hypoplasia, Uplifted earlobe, ... |
OMIM:619841 |
| Mandibulofacial Dysostosis, Guion-Almeida Type |
|
Ventricular septal defect, Proximal placement of thumb, Preaxial hand polydactyly, Atrial septal ... |
OMIM:610536 |
| Atrial Septal Defect 9 |
|
Secundum atrial septal defect, Bicuspid aortic valve |
OMIM:614475 |
| Fanconi Anemia, Complementation Group F |
|
Pneumonia, Absent thumb, Short thumb, Patent ductus arteriosus, Hypoplasia of the radius, 2-3 fin... |
OMIM:603467 |
| Sickle Cell Anemia |
|
Pigment gallstones, Abnormality of the spleen, Elevated circulating creatinine concentration, Cho... |
ORPHA:232 |
| Penile Agenesis |
|
Ventricular septal defect, Bilateral lung agenesis, Bilateral talipes equinovarus, Pulmonary hypo... |
ORPHA:49 |
| 3Mc Syndrome 1 |
|
Atrial septal defect, Ventricular septal defect, Single interphalangeal crease of fifth finger, P... |
OMIM:257920 |
| Tumoral Calcinosis, Hyperphosphatemic, Familial, 1 |
|
Increased renal tubular phosphate reabsorption, Decreased renal tubular phosphate excretion, Neph... |
OMIM:211900 |
| Syndactyly-Telecanthus-Anogenital And Renal Malformations Syndrome |
|
Toe syndactyly, Mitral atresia, Pulmonary artery stenosis, Hypoplasia of the radius, Abnormal car... |
ORPHA:140952 |
| Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation |
|
Prominent fingertip pads, Branchial anomaly, Brachydactyly, Short palm |
ORPHA:466950 |
| Developmental And Epileptic Encephalopathy 18 |
|
Atrial septal defect |
OMIM:615476 |
| Adams-Oliver Syndrome 5 |
|
Syndactyly, Brachydactyly, Pulmonic stenosis, Right ventricular hypertrophy, Umbilical hernia, Pa... |
OMIM:616028 |
| Tyshchenko Syndrome |
|
Atrial septal defect, Ventricular septal defect, Pulmonic stenosis |
OMIM:615102 |
| Coffin-Siris Syndrome 7 |
|
Ventricular septal defect, Bicuspid aortic valve, Clinodactyly of the 5th finger, Patent foramen ... |
OMIM:618027 |
| Craniosynostosis 6 |
|
Delayed cranial suture closure, Craniosynostosis, Sensorineural hearing impairment, Right unilamb... |
OMIM:616602 |
| Hereditary Spherocytosis |
|
Hepatomegaly, Splenomegaly, Jaundice, Growth delay, Hyperbilirubinemia, Cholelithiasis |
ORPHA:822 |
| Nephrotic Syndrome, Type 11 |
|
Ventricular septal defect, Arachnodactyly, Partial duplication of thumb phalanx, Dilated cardiomy... |
OMIM:616730 |
| Tolchin-Le Caignec Syndrome |
|
Abnormal vestibular function, Arachnodactyly, Micrognathia, Sensorineural hearing impairment, Sub... |
OMIM:618971 |
| 22Q11.2 Duplication Syndrome |
|
Ventricular septal defect, Hypoplastic left heart, Transposition of the great arteries, Interrupt... |
ORPHA:1727 |
| Skraban-Deardorff Syndrome |
|
Right aortic arch, Ventricular septal defect |
OMIM:617616 |
| Al Kaissi Syndrome |
|
Atrial septal defect, Clinodactyly, Deep palmar crease, Small hand |
OMIM:617694 |
| Lathosterolosis |
|
Elevated hepatic transaminase, Toe syndactyly, Bilobate gallbladder, Intrahepatic cholestasis, Po... |
OMIM:607330 |
| Diamond-Blackfan Anemia 21 |
|
Hallux valgus, Sandal gap, Tapered finger, Secundum atrial septal defect, Preaxial hand polydacty... |
OMIM:620072 |
| Congenital Disorder Of Glycosylation With Defective Fucosylation 1 |
|
Atrial septal defect, Patent ductus arteriosus, Hip dislocation, Limb undergrowth, Recurrent lowe... |
OMIM:618005 |
| X-Linked Lissencephaly With Abnormal Genitalia |
|
Agenesis of corpus callosum, Patent ductus arteriosus, Ventricular septal defect |
ORPHA:452 |
| Intellectual Disability-Strabismus Syndrome |
|
Rocker bottom foot, Patent ductus arteriosus, Talipes equinovarus, Congenital finger flexion cont... |
ORPHA:363528 |
| Senior-Loken Syndrome 3 |
|
Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary cysts, Nephronophthisis |
OMIM:606995 |
| Cooper-Jabs Syndrome |
|
Ventricular septal defect, Camptodactyly of finger, Proximal placement of thumb, Abnormal hip bon... |
ORPHA:1488 |
| Tukel Syndrome |
|
Carpal synostosis, Syndactyly, Carpal bone aplasia, Postaxial oligodactyly |
OMIM:609428 |
| Mosaic Variegated Aneuploidy Syndrome 1 |
|
Multicystic kidney dysplasia, Hypospadias, Nephroblastoma, Short stature, Postnatal growth retard... |
OMIM:257300 |
| Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Decreased response to growth hormone stimulation test, Micrognathia, Downturned corners of mouth,... |
ORPHA:444077 |
| Geroderma Osteodysplasticum |
|
Mandibular prognathia, Hyperextensibility of the finger joints, Hypoplasia of the maxilla, Tibial... |
OMIM:231070 |
| Renal Tubular Dysgenesis |
|
Pulmonary hypoplasia |
OMIM:267430 |
| Yuan-Harel-Lupski Syndrome |
|
Bicuspid aortic valve, Sandal gap, Ventricular septal defect, Aortic root aneurysm, Clinodactyly ... |
OMIM:616652 |
| Shashi-Pena Syndrome |
|
Short metacarpal, Dilation of Virchow-Robin spaces, Patent ductus arteriosus, Deep palmar crease,... |
OMIM:617190 |
| Bencze Syndrome |
|
Open bite, Submucous cleft hard palate |
ORPHA:1241 |
| Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities |
|
Recurrent respiratory infections, Ventricular septal defect, Hydrocephalus, Lateral ventricle dil... |
OMIM:619575 |
| Nasopalpebral Lipoma-Coloboma Syndrome |
|
Clinodactyly of the 5th finger, Coloboma |
OMIM:167730 |
| Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome |
|
Ventricular septal defect, Bilateral single transverse palmar creases, Large hands, Umbilical her... |
ORPHA:1770 |
| Tetraamelia-Multiple Malformations Syndrome |
|
Hydrocephalus, Abnormal lung lobation, Aplasia/Hypoplasia of the lungs, Aplasia/Hypoplasia involv... |
ORPHA:3301 |
| Popliteal Pterygium Syndrome |
|
Cleft upper lip, Cryptorchidism, Lower lip pit, Fibrous syngnathia, Cleft palate, Popliteal ptery... |
OMIM:119500 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
|
Occipital encephalocele, Meningoencephalocele, Hydrocephalus, Coloboma, Hypoplasia of the brainst... |
OMIM:236670 |
| Ehlers-Danlos Syndrome, Musculocontractural Type, 1 |
|
Joint dislocation, Protruding ear, High palate, Abnormal duodenum morphology, Microretrognathia, ... |
OMIM:601776 |
| Spastic Paraplegia 9A, Autosomal Dominant |
|
Urinary incontinence, Hiatus hernia, Urinary urgency, Abnormal pelvic girdle bone morphology, Car... |
OMIM:601162 |
| Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Mandibular prognathia, Dental crowding, Urinary incontinence, Uplifted earlobe, Asplenia, Cleft h... |
ORPHA:261537 |
| Codas Syndrome |
|
Short metacarpal, Congenital hip dislocation, Ventricular septal defect, Abnormal pelvic girdle b... |
ORPHA:1458 |
| Osteogenesis Imperfecta, Type Iv |
|
Otosclerosis, Wormian bones, Femoral bowing present at birth, straightening with time, Dentinogen... |
OMIM:166220 |
| Branchio-Oculo-Facial Syndrome |
|
Multicystic kidney dysplasia, Renal agenesis, Preaxial hand polydactyly, High palate, Hydronephrosis |
ORPHA:1297 |
| Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome |
|
Hypospadias, Cleft soft palate, Micrognathia, Cryptorchidism, Microtia, Submucous cleft soft pala... |
ORPHA:2282 |
| Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects |
|
Unilateral renal agenesis, Esophageal atresia, Submucous cleft hard palate, Spina bifida occulta,... |
OMIM:619227 |
| Lethal Omphalocele-Cleft Palate Syndrome |
|
Cleft soft palate, Cleft palate, Unilateral cleft lip, Retrognathia, Bifid uvula |
ORPHA:2736 |
| Osteogenesis Imperfecta, Type Viii |
|
Short metacarpal, Radial bowing, Femoral retroversion, Wide anterior fontanel, Tibial bowing, Fem... |
OMIM:610915 |
| Hydrolethalus Syndrome 1 |
|
Ventricular septal defect, Preaxial hand polydactyly, Postaxial hand polydactyly, Duplication of ... |
OMIM:236680 |
| Kabuki Syndrome |
|
Hydrocephalus, Small hand, Hip dislocation, Coarctation of aorta, Coloboma, Abnormal cardiac sept... |
ORPHA:2322 |
| Chromosome 13Q14 Deletion Syndrome |
|
Overlapping toe, Single transverse palmar crease, Ventricular septal defect, Hip dislocation, Age... |
OMIM:613884 |
| Brain-Lung-Thyroid Syndrome |
|
Recurrent respiratory infections, Ventricular septal defect, Patent foramen ovale, Recurrent pneu... |
ORPHA:209905 |
| Tatton-Brown-Rahman Syndrome |
|
Atrial septal defect, Umbilical hernia, Ventricular septal defect |
OMIM:615879 |
| Maternal Phenylketonuria |
|
Ventricular septal defect, Bifid distal phalanx of the thumb, Double outlet right ventricle, Abno... |
ORPHA:2209 |
| Filippi Syndrome |
|
Enlarged epiphyses, Finger syndactyly, Ventricular septal defect, Clinodactyly of the 5th finger,... |
ORPHA:3255 |
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome |
|
Proportionate shortening of all digits, Tapered finger, Patent foramen ovale, Patent ductus arter... |
ORPHA:280633 |
| Polyhydramnios-Megalencephaly-Symptomatic Epilepsy Syndrome |
|
Atrial septal defect |
ORPHA:500533 |
| Noonan Syndrome 5 |
|
Atrial septal defect, Cubitus valgus, Hypertrophic cardiomyopathy, Pulmonic stenosis |
OMIM:611553 |
| Gitelman Syndrome |
|
Urinary incontinence, Maternal diabetes, Decreased urinary potassium, Hyperhidrosis, Glucose into... |
ORPHA:358 |
| Cardiospondylocarpofacial Syndrome |
|
Decreased testicular size, Carpal synostosis, Posteriorly rotated ears, Tarsal synostosis, Congen... |
OMIM:157800 |
| Autosomal Recessive Cutis Laxa Type 2A |
|
Persistent open anterior fontanelle, Congenital hip dislocation, Wide anterior fontanel, Long phi... |
ORPHA:357058 |
| Hennekam-Beemer Syndrome |
|
Camptodactyly of finger, Micrognathia, Thick lower lip vermilion, Microtia, High palate, Clinodac... |
ORPHA:2135 |
| Mandibulofacial Dysostosis-Microcephaly Syndrome |
|
Atrial septal defect, Preaxial hand polydactyly |
ORPHA:79113 |
| Immunodeficiency 49 |
|
Umbilical hernia, Pulmonary artery stenosis, Agenesis of corpus callosum |
OMIM:617237 |
| Wiedemann-Rautenstrauch Syndrome |
|
Decreased response to growth hormone stimulation test, Wide penis, Abnormality of the ear, Downtu... |
ORPHA:3455 |
| Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy |
|
Atrial septal defect |
OMIM:611087 |
| Atrial Septal Defect 5 |
|
Secundum atrial septal defect |
OMIM:612794 |
| Atrial Septal Defect 3 |
|
Secundum atrial septal defect |
OMIM:614089 |
| Biliary Cirrhosis, Primary, 1 |
|
Biliary cirrhosis |
OMIM:109720 |
| Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities |
|
Proximal placement of thumb, Secundum atrial septal defect, 2-3 toe syndactyly, Complete duplicat... |
OMIM:619121 |
| Rere-Related Neurodevelopmental Syndrome |
|
Ventricular septal defect, Abnormal heart morphology, Hip dysplasia, Chorioretinal coloboma, Iris... |
ORPHA:494344 |
| Neurooculorenal Syndrome |
|
Hypoplasia of the bladder, Ectopic posterior pituitary, Decreased circulating cortisol level, Int... |
OMIM:620305 |
| Hereditary Hemorrhagic Telangiectasia |
|
Intestinal polyposis, Portal hypertension, Esophageal varix, Nephrolithiasis, Hematuria, Cholecys... |
ORPHA:774 |
| Developmental Delay With Or Without Dysmorphic Facies And Autism |
|
Short stature, Supernumerary nipple, Highly arched eyebrow, Cryptorchidism, 2-3 toe cutaneous syn... |
OMIM:618454 |
| Acromelic Frontonasal Dysplasia |
|
Encephalocele, Meningocele, Patellar hypoplasia, Talipes equinovarus, Preaxial foot polydactyly, ... |
ORPHA:1827 |
| Poland Syndrome |
|
Encephalocele, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Abnormal morphology of ulna, A... |
ORPHA:2911 |
| Braddock Syndrome |
|
Preaxial hand polydactyly, Unilateral renal agenesis |
ORPHA:52047 |
| Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities |
|
Atrial septal defect, Patent ductus arteriosus, Patent foramen ovale |
OMIM:620327 |
| Multiple Endocrine Neoplasia, Type I |
|
Hypoglycemia, Pancreatic islet cell adenoma, Elevated circulating growth hormone concentration, H... |
OMIM:131100 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Hallux valgus, Dental crowding, Cryptorchidism, High, narrow palate, Narrow mouth, Pineal cyst, W... |
OMIM:300967 |
| X Small Rings |
|
Toe syndactyly, Bicuspid aortic valve, Ventricular septal defect, Tapered finger, 2-3 toe syndact... |
ORPHA:96201 |
| Holoprosencephaly 14 |
|
Ventricular septal defect, Cyclopia, Alobar holoprosencephaly, Aqueductal stenosis, Partial agene... |
OMIM:619895 |
| Metachromatic Leukodystrophy |
|
Urinary incontinence, Abnormal stomach morphology, Abnormal gallbladder morphology, Hemobilia, Ne... |
ORPHA:512 |
| Menkes Disease |
|
Wormian bones, Metaphyseal widening, Metaphyseal spurs |
OMIM:309400 |
| Srd5A3-Cdg |
|
Coloboma |
ORPHA:324737 |
| Methimazole Embryofetopathy |
|
Abnormal aortic morphology, Ventricular septal defect, Coarctation of aorta |
ORPHA:1923 |
| Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome |
|
Multicystic kidney dysplasia, Hydroureter, Intestinal malrotation, Cryptorchidism, Megacystis, Mi... |
ORPHA:2241 |
| Pyruvate Dehydrogenase E3-Binding Protein Deficiency |
|
Abnormal brainstem morphology |
ORPHA:255182 |
| Congenital Disorder Of Glycosylation, Type Iq |
|
Coloboma |
OMIM:612379 |
| Craniosynostosis 4 |
|
Ectopic posterior pituitary, Sagittal craniosynostosis, Pansynostosis, Lambdoidal craniosynostosi... |
OMIM:600775 |
| Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Hypospadias, Unilateral renal agenesis, Tapered finger, Cryptorchidism, Short toe, Renal cyst, Sh... |
ORPHA:464311 |
| Japanese Encephalitis |
|
Abnormal substantia nigra morphology, Abnormal midbrain morphology, Elbow flexion contracture, Ab... |
ORPHA:79139 |
| Fanconi Anemia, Complementation Group U |
|
Absent thumb, Absent radius, Ectopic kidney, Hypoplasia of the radius, Aplasia of the 1st metacar... |
OMIM:617247 |
| Khan-Khan-Katsanis Syndrome |
|
Ureteral duplication, Tented upper lip vermilion, Delayed closure of the anterior fontanelle, Pos... |
OMIM:618460 |
| Monosomy 18Q |
|
Arachnodactyly, Abnormal palmar dermatoglyphics, Absence of the pulmonary valve, Tapered finger, ... |
ORPHA:1600 |
| Noonan Syndrome-Like Disorder With Loose Anagen Hair 2 |
|
Ventricular septal defect, Patent ductus arteriosus, Hypoplastic aortic arch, Coarctation of aort... |
OMIM:617506 |
| Kabuki Syndrome 2 |
|
Atrial septal defect, Hip dislocation, Coarctation of aorta, Short 5th finger, Pulmonic stenosis,... |
OMIM:300867 |
| Chromosome 1P36 Deletion Syndrome, Distal |
|
Ectopic kidney, Orofacial cleft, High palate, Thickened helices, Clinodactyly of the 5th finger, ... |
OMIM:607872 |
| Noonan Syndrome 7 |
|
Deep palmar crease, Pulmonic stenosis, Atrial septal defect, Cubitus valgus, Hypertrophic cardiom... |
OMIM:613706 |
| Isolated Posterior Meningocele |
|
Hydrocephalus, Lipomyelomeningocele, Meningocele, Neural tube defect, Occipital meningocele |
ORPHA:268810 |
| 15Q14 Microdeletion Syndrome |
|
Atrial septal defect, Ventricular septal defect |
ORPHA:261190 |
| Short Stature-Micrognathia Syndrome |
|
Rhizomelia, Ventricular septal defect, Bowing of the legs, Coxa valga, Metaphyseal widening, 2-3 ... |
OMIM:617164 |
| Noonan Syndrome 9 |
|
Ventricular septal defect, Pulmonic stenosis, Coarctation of aorta |
OMIM:616559 |
| Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities |
|
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Coronary artery fistul... |
OMIM:620024 |
| 19P13.3 Microduplication Syndrome |
|
Ventricular septal defect, Long fingers, Hip dislocation, Hip dysplasia, Clinodactyly, Hip sublux... |
ORPHA:447980 |
| Alazami Syndrome |
|
Atrial septal defect, Slender long bone |
ORPHA:319671 |
| Gm1 Gangliosidosis |
|
Recurrent respiratory infections, Ventricular septal defect, Camptodactyly of finger, Patent duct... |
ORPHA:354 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type |
|
Prominent fingertip pads, Atrial septal defect, Arachnodactyly, Mitral valve prolapse |
OMIM:300986 |
| Mpdu1-Cdg |
|
Renal cortical cysts, Abnormal circulating enzyme concentration or activity, Elevated circulating... |
ORPHA:79323 |
| Microphthalmia, Syndromic 1 |
|
Dental crowding, Abnormal palmar dermatoglyphics, High, narrow palate, Rectal prolapse, Orofacial... |
OMIM:309800 |
| Diamond-Blackfan Anemia 12 |
|
Ventricular septal defect, Triphalangeal thumb |
OMIM:615550 |
| Koolen-De Vries Syndrome |
|
Atrial septal defect, Bicuspid aortic valve, Ventricular septal defect, Patent ductus arteriosus,... |
OMIM:610443 |
| Waardenburg Syndrome Type 2 |
|
Abnormality of the pulmonary artery |
ORPHA:895 |
| Werner Syndrome |
|
Rocker bottom foot, Abnormal cerebral vascular morphology, Pulmonary artery stenosis, Small hand,... |
ORPHA:902 |
| Microphthalmia, Syndromic 3 |
|
Agenesis of corpus callosum, Patent ductus arteriosus, Ventricular septal defect, Coloboma |
OMIM:206900 |
| Laubry-Pezzi Syndrome |
|
Aortic valve prolapse, Bicuspid aortic valve, Ventricular septal defect, Abnormal aortic valve cu... |
ORPHA:99094 |
| Pmm2-Cdg |
|
Elevated hepatic transaminase, Proteinuria, Elevated circulating growth hormone concentration, Lo... |
ORPHA:79318 |
| Cleft Soft Palate |
|
Cleft soft palate |
OMIM:119570 |
| Epilepsy, Early-Onset, 2, With Or Without Developmental Delay |
|
Patent foramen ovale |
OMIM:618832 |
| Cimdag Syndrome |
|
Microvesicular hepatic steatosis, Cholelithiasis, Hepatomegaly |
OMIM:619273 |
| Ferguson-Bonni Neurodevelopmental Syndrome |
|
Patent foramen ovale, Coronary-pulmonary artery fistula |
OMIM:619699 |
| Nasopalpebral Lipoma-Coloboma Syndrome |
|
Clinodactyly of the 5th finger, Coloboma, Recurrent upper respiratory tract infections |
ORPHA:2399 |
| Lethal Congenital Contracture Syndrome 9 |
|
Ulnar deviation of the hand, Talipes equinovarus, Pulmonary hypoplasia, Short umbilical cord, Joi... |
OMIM:616503 |
| Sheehan Syndrome |
|
Hyponatremia, Decreased circulating cortisol level, Hypoglycemia, Reduced circulating prolactin c... |
ORPHA:91355 |
| Cutis Laxa, Autosomal Dominant 1 |
|
Emphysema, Ventricular septal defect, Bronchiectasis, Peripheral pulmonary artery stenosis |
OMIM:123700 |
| 21Q22.11Q22.12 Microdeletion Syndrome |
|
Short proximal phalanx of the 5th finger, Short proximal phalanx of the 2nd finger, Cone-shaped e... |
ORPHA:261323 |
| Proximal 16P11.2 Microdeletion Syndrome |
|
Dextrocardia, Abnormal heart morphology, Hand polydactyly, Abnormal aortic valve morphology, Atri... |
ORPHA:261197 |
| Fanconi Anemia |
|
Abnormal femur morphology, Triphalangeal thumb, Atrial septal defect, Clinodactyly of the 5th fin... |
ORPHA:84 |
| Koolen-De Vries Syndrome Due To A Point Mutation |
|
Hand muscle atrophy, Joint dislocation, Decreased response to growth hormone stimulation test, Ca... |
ORPHA:363965 |
| 17Q21.31 Microdeletion Syndrome |
|
Hand muscle atrophy, Joint dislocation, Decreased response to growth hormone stimulation test, Ca... |
ORPHA:363958 |
| Dohle Bodies And Leukemia |
|
Secundum atrial septal defect |
OMIM:223350 |
| Congenital Gerbode Defect |
|
Ventricular septal defect, Right atrial enlargement, Perimembranous ventricular septal defect, Pu... |
ORPHA:99095 |
| Viss Syndrome |
|
Chronic gastritis, Micrognathia, High, narrow palate, High palate, Broad uvula, Hypothyroidism, B... |
OMIM:619472 |
| Mowat-Wilson Syndrome |
|
Mandibular prognathia, Dental crowding, Urinary incontinence, Uplifted earlobe, Asplenia, Cleft h... |
ORPHA:2152 |
| Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome |
|
Branchial cyst, Natal tooth, Broad hallux, Short stature, Hydrocele testis, Atrial septal defect,... |
OMIM:620186 |
| Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome |
|
Pericardial effusion, Dilated cardiomyopathy, Pulmonary edema |
ORPHA:73224 |
| Klippel-Feil Syndrome 2, Autosomal Recessive |
|
Ventricular septal defect |
OMIM:214300 |
| Baraitser-Winter Cerebrofrontofacial Syndrome |
|
Prominent metopic ridge, Hydroureter, Duplication of thumb phalanx, Micrognathia, Large fontanell... |
ORPHA:2995 |
| Xq21 Microdeletion Syndrome |
|
Stapes ankylosis, Decreased response to growth hormone stimulation test, Dilatated internal audit... |
ORPHA:1435 |
| Renpenning Syndrome 1 |
|
Atrial septal defect, Ventricular septal defect, Situs inversus totalis, Tetralogy of Fallot, Col... |
OMIM:309500 |
| Cohen Syndrome |
|
Finger syndactyly, Arachnodactyly, Sandal gap, Ventricular septal defect, Tapered finger, Narrow ... |
ORPHA:193 |
| Severe Generalized Junctional Epidermolysis Bullosa |
|
Urethral stricture, Duplicated collecting system, Multicystic kidney dysplasia, Recurrent urinary... |
ORPHA:79404 |
| Coffin-Siris Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Recurrent upper respiratory tract infections... |
ORPHA:1465 |
| Ulnar-Mammary Syndrome |
|
Abnormal morphology of the radius, Ventricular septal defect, Camptodactyly of finger, Abnormalit... |
ORPHA:3138 |
| Mohr-Tranebjaerg Syndrome |
|
Absent brainstem auditory responses, Abnormal vestibular function, Sensorineural hearing impairme... |
ORPHA:52368 |
| Addison Disease |
|
Hypoparathyroidism, Hyponatremia, Decreased circulating cortisol level, Primary testicular failur... |
ORPHA:85138 |
| Noonan Syndrome 4 |
|
Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Cubitus valgus, Hypertrophic ... |
OMIM:610733 |
| Cutis Laxa, Autosomal Recessive, Type Ib |
|
Arachnodactyly, Arterial tortuosity, Emphysema, Aortic root aneurysm, Generalized arterial tortuo... |
OMIM:614437 |
| Craniofacial Microsomia 1 |
|
Occipital encephalocele, Ventricular septal defect, Partial duplication of thumb phalanx, Patent ... |
OMIM:164210 |
| 3Q29 Microduplication Syndrome |
|
Toe syndactyly, Ventricular septal defect, Sandal gap, Aniridia, Camptodactyly of toe, Iris coloboma |
ORPHA:251038 |
| Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome |
|
Cerebral arteriovenous malformation, Pulmonary arteriovenous malformation, Clubbing, Mitral valve... |
OMIM:175050 |
| Polymicrogyria Due To Tubb2B Mutation |
|
Hypoplasia of the pons, Abnormal brainstem morphology |
ORPHA:300573 |
| Thakker-Donnai Syndrome |
|
Communicating hydrocephalus, Ventricular septal defect, Transposition of the great arteries, Tetr... |
ORPHA:1780 |
| Townes-Brocks Syndrome |
|
Hypoplasia of penis, Ectopic kidney, Anteriorly placed anus, Triphalangeal thumb, Vesicoureteral ... |
ORPHA:857 |
| Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Patent ductus arteriosus, Overriding aorta, Ventricular septal defect |
OMIM:617021 |
| Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2 |
|
Short long bone, Short palm, Atrial septal defect, Patent foramen ovale, Brachydactyly |
OMIM:619184 |
| Menkes Disease |
|
Bowing of the long bones, Tarsal synostosis, Micrognathia, Malabsorption, Abnormal palate morphol... |
ORPHA:565 |
| Pontocerebellar Hypoplasia, Type 8 |
|
Ventricular septal defect, Patent foramen ovale, Talipes equinovarus |
OMIM:614961 |
| Alg12-Cdg |
|
Recurrent respiratory infections, Ulnar deviation of the wrist, Sandal gap, Proximal placement of... |
ORPHA:79324 |
| 8P11.2 Deletion Syndrome |
|
Patent ductus arteriosus, Mitral valve prolapse, Talipes equinovarus, Atrial septal defect, Iris ... |
ORPHA:251066 |
| Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Absent gallbladder, Arachnodactyly, Sagittal craniosynostosis, Absent thumb, Hypoplasia of the ma... |
ORPHA:500150 |
| Chédiak-Higashi Syndrome |
|
Pericardial effusion, Pleural effusion, Edema |
ORPHA:167 |
| Shigellosis |
|
Hyponatremia, Hypoglycemia, Hemolytic-uremic syndrome, Intestinal perforation, Peritonitis, Ureth... |
ORPHA:810 |
| Cardiomyopathy, Familial Hypertrophic, 11 |
|
Atrial septal defect, Hypertrophic cardiomyopathy, Left ventricular hypertrophy, Subaortic ventri... |
OMIM:612098 |
| Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Mandibular prognathia, Dental crowding, Urinary incontinence, Uplifted earlobe, Asplenia, Cleft h... |
ORPHA:261552 |
| Tetraamelia Syndrome 1 |
|
Peripheral pulmonary vessel aplasia, Hydrocephalus, Pulmonary hypoplasia, Hypoplastic pelvis |
OMIM:273395 |
| Wolf-Hirschhorn Syndrome |
|
Hypoplastic pubic ramus, Recurrent respiratory infections, Arachnodactyly, Abnormal heart valve m... |
ORPHA:280 |
| Aprosencephaly And Cerebellar Dysgenesis |
|
Absent mesencephalon, Aprosencephaly, Talipes equinovarus |
OMIM:601374 |
| Reynolds Syndrome |
|
Calcinosis, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Jaundice, Biliary cirrhosi... |
OMIM:613471 |
| Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2 |
|
High-frequency sensorineural hearing impairment, Mixed hearing impairment, Cleft soft palate, Bla... |
OMIM:614557 |
| Ring Chromosome 13 Syndrome |
|
Aplasia/Hypoplasia of the thumb, Alopecia, Hypoplasia of the gallbladder, Hypospadias, Aplasia/hy... |
ORPHA:96176 |
| Hamamy Syndrome |
|
Long toe, Syndactyly, Atrial septal defect, Down-sloping shoulders, Tapered finger, Long fingers,... |
OMIM:611174 |
| Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2 |
|
Patent ductus arteriosus, Thoracic aortic aneurysm, Pulmonary hypoplasia |
OMIM:619351 |
| Sirenomelia |
|
Spina bifida, Sirenomelia |
ORPHA:3169 |
| Proximal Spinal Muscular Atrophy |
|
Recurrent infections due to aspiration, Elbow flexion contracture, Hip dislocation, Distal upper ... |
ORPHA:70 |
| X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome |
|
Atrial septal defect, Toe syndactyly, Ventricular septal defect, Single transverse palmar crease,... |
ORPHA:459070 |
| Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Absent eyebrow, Hypertriglyceridemia, Absent eyelashes, Abnormal intrahepatic bile duct morpholog... |
ORPHA:363618 |
| Wrinkly Skin Syndrome |
|
Delayed eruption of teeth, Congenital hip dislocation, Delayed closure of the anterior fontanelle... |
ORPHA:2834 |
| X-Linked Cerebral-Cerebellar-Coloboma Syndrome |
|
Hydrocephalus, Abnormal brainstem morphology |
ORPHA:163961 |
| Bent Bone Dysplasia Syndrome 2 |
|
Atrial septal defect, Ulnar deviation of the hand, Bowed humerus, Ulnar bowing, Femoral bowing, S... |
OMIM:620076 |
| Opitz Gbbb Syndrome |
|
Ventricular septal defect, Patent foramen ovale, Patent ductus arteriosus, Abnormal heart morphol... |
ORPHA:2745 |
| Hemifacial Hyperplasia With Strabismus |
|
Submucous cleft hard palate |
OMIM:141350 |
| Diamond-Blackfan Anemia 4 |
|
Atrial septal defect |
OMIM:612527 |
| Myhre Syndrome |
|
Atrial septal defect, Overlapping toe, Ventricular septal defect, Pericardial effusion, Short toe... |
OMIM:139210 |
| Cornelia De Lange Syndrome |
|
Hypoplasia of penis, Micromelia, Proximal placement of thumb, Synophrys, Low anterior hairline, H... |
ORPHA:199 |
| Autosomal Recessive Malignant Osteopetrosis |
|
Recurrent respiratory infections, Bowing of the long bones, Abnormal pulmonary valve morphology, ... |
ORPHA:667 |
| Agnathia-Holoprosencephaly-Situs Inversus Syndrome |
|
Low-set, posteriorly rotated ears, Hypoplasia of penis, Narrow mouth, Mandibular aplasia, Microgl... |
ORPHA:990 |
| Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome |
|
Elongated superior cerebellar peduncle, Abnormal brainstem morphology |
ORPHA:370022 |
| Renal Agenesis, Bilateral |
|
Pulmonary hypoplasia, Sirenomelia |
ORPHA:1848 |
| Phace Association |
|
Anomalous branches of internal carotid artery, Ventricular septal defect, Patent ductus arteriosu... |
OMIM:606519 |
| Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies |
|
Short stature, Decreased response to growth hormone stimulation test, Renal cyst, Talipes equinov... |
OMIM:617260 |
| Deafness, Congenital, With Inner Ear Agenesis, Microtia, And Microdontia |
|
Micrognathia, Anteverted ears, Conical tooth, Aplasia of the inner ear, Widely spaced teeth, Micr... |
OMIM:610706 |
| Weill-Marchesani Syndrome 2 |
|
Short metacarpal, Ventricular septal defect, Patent ductus arteriosus, Short metatarsal, Broad pa... |
OMIM:608328 |
| Joubert Syndrome 21 |
|
Encephalocele, Occipital encephalocele, Pulmonary hypoplasia |
OMIM:615636 |
| Hypermethioninemia Due To Adenosine Kinase Deficiency |
|
Secundum atrial septal defect, Pulmonic stenosis, Coarctation of aorta |
OMIM:614300 |
| Chronic Visceral Acid Sphingomyelinase Deficiency |
|
Hepatomegaly, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Abnormal circulating... |
ORPHA:77293 |
| Cole-Carpenter Syndrome 1 |
|
Micrognathia, Wormian bones, Microdontia, Coronal craniosynostosis, Dentinogenesis imperfecta, Or... |
OMIM:112240 |
| Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation |
|
Large placenta, Umbilical hernia, Ventricular septal defect, Abnormal heart morphology |
ORPHA:254534 |
| Diamond-Blackfan Anemia 1 |
|
Absent thumb, Hypoplastic ilia, Short thumb, Partial duplication of thumb phalanx, Hypoplasia of ... |
OMIM:105650 |
| Beaulieu-Boycott-Innes Syndrome |
|
Patent ductus arteriosus, Ventricular septal defect |
OMIM:613680 |
| Autosomal Dominant Keratitis |
|
Aniridia, Coloboma |
ORPHA:2334 |
| Mosaic Variegated Aneuploidy Syndrome |
|
Atrial septal defect, Abnormal lung lobation, Coarctation of aorta, Abnormal aortic morphology, A... |
ORPHA:1052 |
| Neuromuscular Oculoauditory Syndrome |
|
Elevated circulating creatine kinase concentration, Multiple renal cysts, Talipes equinovarus, Re... |
OMIM:618733 |
| Microcephaly 26, Primary, Autosomal Dominant |
|
Dysplastic corpus callosum, Recurrent pneumonia, Patent foramen ovale |
OMIM:619179 |
| Primary Fanconi Renotubular Syndrome |
|
Low-molecular-weight proteinuria, Hypouricemia, Hypoglycemia, Increased urinary potassium, Chroni... |
ORPHA:3337 |
| Histiocytoid Cardiomyopathy |
|
Hepatomegaly, Hypoglycemia, Cardiomegaly, Renal cyst, Polycystic ovaries, Cleft palate |
ORPHA:137675 |
| Short-Rib Thoracic Dysplasia 21 Without Polydactyly |
|
Short humerus, Trident pelvis, Bowed humerus, Short long bone, Molar tooth sign on MRI, Brachydac... |
OMIM:619479 |
| Aicardi-Goutieres Syndrome 7 |
|
Pericardial effusion, Hypertrophic cardiomyopathy, Edema, Oligohydramnios |
OMIM:615846 |
| Donnai-Barrow Syndrome |
|
Ventricular septal defect, Partial agenesis of the corpus callosum, Short sternum, Umbilical hern... |
OMIM:222448 |
| Cardiofacioneurodevelopmental Syndrome |
|
Ventricular septal defect, Pulmonic stenosis, Camptodactyly, Clinodactyly of the 5th finger, Atri... |
OMIM:619123 |
| Weill-Marchesani Syndrome 1 |
|
Ventricular septal defect, Patent ductus arteriosus, Broad palm, Pulmonic stenosis, Broad phalang... |
OMIM:277600 |
| Anophthalmia Plus Syndrome |
|
Spina bifida |
ORPHA:1104 |
| Holoprosencephaly-Radial Heart Renal Anomalies Syndrome |
|
Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Absent gallbladder, Renal hypoplasia/apl... |
ORPHA:3186 |
| Heart And Brain Malformation Syndrome |
|
Hand clenching, Ventricular septal defect, Camptodactyly of finger, Interrupted aortic arch |
OMIM:616920 |
| Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
|
Bicuspid aortic valve, Ventricular septal defect, Partial atrioventricular canal defect, Cardiome... |
OMIM:620066 |
| Gabriele-De Vries Syndrome |
|
Hallux valgus, Sandal gap, Aortopulmonary collateral arteries, Long fingers, Lateral ventricle di... |
OMIM:617557 |
| Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Recurrent respiratory infections, Prominent superficial veins, Cor triatriatum, Single transverse... |
OMIM:612541 |
| Hyperlysinemia |
|
Pulmonary artery hypoplasia, Recurrent pneumonia |
ORPHA:2203 |
| Proteus Syndrome |
|
Abnormal finger morphology, Renal cyst, Clinodactyly of the 5th finger, Abnormality of the wrist,... |
ORPHA:744 |
| Wolcott-Rallison Syndrome |
|
Atrial septal defect, Metaphyseal dysplasia, Double outlet right ventricle |
ORPHA:1667 |
| Combined Oxidative Phosphorylation Deficiency 9 |
|
Hypertrophic cardiomyopathy, Patent foramen ovale |
OMIM:614582 |
| Mogs-Cdg |
|
Cardiomegaly, Atrial septal defect, Overlapping fingers, Left ventricular hypertrophy, Pulmonary ... |
ORPHA:79330 |
| Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness |
|
Clinodactyly of the 5th finger, Coloboma |
OMIM:617306 |
| Specc1L-Related Hypertelorism Syndrome |
|
Finger syndactyly, Atrial septal defect, Ventricular septal defect, Short toe, Patent ductus arte... |
ORPHA:1519 |
| Tubulinopathy-Associated Dysgyria |
|
Hypoplasia of the pons, Abnormal brainstem morphology |
ORPHA:467166 |
| Methylmalonic Aciduria And Homocystinuria, Cblf Type |
|
Atrial septal defect, Dextrocardia, Patent ductus arteriosus, Talipes equinovarus |
OMIM:277380 |
| Prader-Willi Syndrome Due To Translocation |
|
Recurrent respiratory infections, Overlapping toe, Patent ductus arteriosus, Small hand, Abnormal... |
ORPHA:177907 |
| Phakomatosis Pigmentokeratotica |
|
Coloboma, Spina bifida |
ORPHA:2874 |
| Bifid Uvula |
|
Submucous cleft soft palate, Cleft lip, Bifid uvula |
ORPHA:99771 |
| Loeys-Dietz Syndrome 3 |
|
Tortuous cerebral arteries, Bicuspid aortic valve, Atrial septal defect, Abdominal aortic aneurys... |
OMIM:613795 |
| Combined Osteogenesis Imperfecta And Ehlers-Danlos Syndrome 1 |
|
Atrial septal defect |
OMIM:619115 |
| Tetraploidy |
|
Aplasia/Hypoplasia of the lungs, Radial club hand |
ORPHA:3305 |
| Chromosome 16P13.3 Duplication Syndrome |
|
Sandal gap, Rocker bottom foot, Proximal placement of thumb, Tapered finger, Ventricular septal d... |
OMIM:613458 |
| Kaufman Oculocerebrofacial Syndrome |
|
Atrial septal defect, Congenital hip dislocation, Long palm, Single transverse palmar crease, Ven... |
OMIM:244450 |
| Nestor-Guillermo Progeria Syndrome |
|
Microretrognathia, Wide cranial sutures, Dental crowding, Delayed closure of the anterior fontane... |
OMIM:614008 |
| Johnson Neuroectodermal Syndrome |
|
Preaxial hand polydactyly, Hand polydactyly, Cleft palate |
ORPHA:2316 |
| Hypoplastic Left Heart Syndrome 2 |
|
Aortic valve atresia, Hypoplastic left heart, Ventricular septal defect, Mitral atresia |
OMIM:614435 |
| Dpagt1-Cdg |
|
Arachnodactyly, Stroke-like episode, Intracranial hemorrhage, Pulmonary hypoplasia, Camptodactyly... |
ORPHA:86309 |
| Short Stature And Facioauriculothoracic Malformations |
|
Ventricular septal defect |
OMIM:609654 |
| Cerebrocostomandibular Syndrome |
|
Hydranencephaly, Ventricular septal defect, Spina bifida, Myelomeningocele, Meningocele, Clinodac... |
ORPHA:1393 |
| Lymphangioleiomyomatosis |
|
Ascites, Chylothorax, Chylopericardium, Lymphedema |
ORPHA:538 |
| Axenfeld-Rieger Syndrome, Type 3 |
|
Atrial septal defect, Patent ductus arteriosus |
OMIM:602482 |
| Camptodactyly Syndrome, Guadalajara Type 1 |
|
Spina bifida |
ORPHA:1327 |
| Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities |
|
Secundum atrial septal defect, 2-3 toe cutaneous syndactyly |
OMIM:620242 |
| Neuroocular Syndrome |
|
Hyperextensibility of the finger joints, Genu recurvatum, Downturned corners of mouth, Widely spa... |
OMIM:619539 |
| Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Prominent metopic ridge, Broad hallux, Postaxial polydactyly, Unilateral renal agenesis, Hip dysp... |
ORPHA:457284 |
| Mowat-Wilson Syndrome |
|
Ventricular septal defect, Pulmonary artery sling, Patent ductus arteriosus, Pulmonary artery ste... |
OMIM:235730 |
| Pallister-Killian Syndrome |
|
Congenital hip dislocation, Single transverse palmar crease, Camptodactyly of 2nd-5th fingers, Sh... |
OMIM:601803 |
| Oculocerebral Hypopigmentation Syndrome, Preus Type |
|
Abnormal brainstem morphology, Hydrocephalus, Arachnodactyly, Abnormal hip bone morphology |
ORPHA:2720 |
| Non-Progressive Cerebellar Ataxia With Intellectual Disability |
|
Short ear, Narrow mouth, Thick lower lip vermilion, Mesiodens, Long philtrum |
ORPHA:314647 |
| Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities |
|
Atrial septal defect, Congenital hip dislocation, Dilation of Virchow-Robin spaces, Aqueductal st... |
OMIM:619512 |
| Robinow Syndrome |
|
Syndactyly, Brachydactyly, Ventricular septal defect, Bifid distal phalanx of the thumb, Mesomeli... |
ORPHA:97360 |
| Sacral Defect With Anterior Meningocele |
|
Myeloschisis, Myelomeningocele, Meningocele, Hydrocephalus, Dermal sinus tract |
OMIM:600145 |
| Pseudo-Torch Syndrome 1 |
|
Umbilical hernia, Patent ductus arteriosus, Patent foramen ovale |
OMIM:251290 |
| Noonan Syndrome 3 |
|
Ventricular septal defect, Patent ductus arteriosus, Mitral valve prolapse, Pulmonic stenosis, Tr... |
OMIM:609942 |
| Lymphatic Malformation 13 |
|
Neonatal death, Atrial septal defect, Patent ductus arteriosus, Patent foramen ovale |
OMIM:620244 |
| Legius Syndrome |
|
Nephrolithiasis, Ovarian neoplasm, Diaphyseal dysplasia, Vestibular schwannoma, Polydactyly, Male... |
ORPHA:137605 |
| Lethal Congenital Contracture Syndrome 2 |
|
Dilated cardiomyopathy, Ventricular septal defect |
OMIM:607598 |
| Retinitis Pigmentosa 74 |
|
Abnormal renal morphology, Polydactyly |
OMIM:616562 |
| Ring Chromosome 12 Syndrome |
|
Syndactyly, Secundum atrial septal defect, Abnormal 5th finger morphology, Symphalangism of the t... |
ORPHA:1439 |
| Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate |
|
Patent ductus arteriosus, Palmoplantar keratoderma, Ventricular septal defect, 2-3 toe syndactyly |
OMIM:106260 |
| King-Denborough Syndrome |
|
Ventricular septal defect |
OMIM:619542 |
| Amoebiasis Due To Free-Living Amoebae |
|
Abnormal brainstem MRI signal intensity, Abnormal pons morphology, Abnormal medulla oblongata mor... |
ORPHA:68 |
| Intellectual Developmental Disorder, Autosomal Recessive 71 |
|
Ventricular septal defect |
OMIM:618504 |
| Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Ventricular septal defect, Thyroid lymphangiectasia, Pancreatic lymphangiectasis, Postaxial hand ... |
OMIM:235255 |
| Dysosteosclerosis |
|
Abnormal metaphysis morphology, Ventricular septal defect, Coarse metaphyseal trabecularization |
ORPHA:1782 |
| Fraser Syndrome |
|
Encephalocele, Finger syndactyly, Toe syndactyly, Myelomeningocele, Abnormal lung lobation, Pulmo... |
ORPHA:2052 |
| Radio-Tartaglia Syndrome |
|
Agenesis of corpus callosum, Brachydactyly, Ventricular septal defect, Tapered finger |
OMIM:619312 |
| Neurodevelopmental Disorder With Language Delay And Seizures |
|
Ventricular septal defect |
OMIM:619908 |
| Generalized Glucocorticoid Resistance Syndrome |
|
Increased urinary cortisol level, Adrenal hyperplasia, Hypoglycemia, Frontal balding, Oligozoospe... |
ORPHA:786 |
| Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities |
|
Ventricular septal defect, Coarctation of aorta, Agenesis of corpus callosum, Hypoplastic left he... |
OMIM:618748 |
| Autosomal Recessive Cutis Laxa Type 1 |
|
Vascular dilatation, Dilatation of the ventricular cavity, Pneumothorax, Hip dislocation, Recurre... |
ORPHA:90349 |
| 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 |
| Beck-Fahrner Syndrome |
|
Hip dysplasia, Ventricular septal defect, Cardiomegaly |
OMIM:618798 |
| Deafness, X-Linked 2 |
|
Stapes ankylosis, Mixed hearing impairment, Dilatated internal auditory canal, Congenital sensori... |
OMIM:304400 |
| Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis |
|
Decreased circulating cortisol level, Femoral bowing, Anteriorly placed anus, Conductive hearing ... |
OMIM:201750 |
| Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome |
|
Hypoplasia of penis, Cryptorchidism, Submucous cleft hard palate, Cleft palate, Failure of erupti... |
ORPHA:2250 |
| Combined Pituitary Hormone Deficiencies, Genetic Forms |
|
Ectopic posterior pituitary, Ectopic anterior pituitary gland, Hypoglycemia, Decreased response t... |
ORPHA:95494 |
| Charge Syndrome |
|
Abnormal tibia morphology, Hypoplasia of the semicircular canal, Clinodactyly of the 5th finger, ... |
ORPHA:138 |
| Cerebrotendinous Xanthomatosis |
|
Cholelithiasis, Abnormal circulating cholesterol concentration, Xanthelasma |
OMIM:213700 |
| Tuberous Sclerosis 1 |
|
Renal cyst, Renal cell carcinoma, Adenoma sebaceum, Preauricular hair displacement, Renal angiomy... |
OMIM:191100 |
| Lymphedema-Distichiasis Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Varicose veins, Chylothorax, Tetralogy of Fa... |
OMIM:153400 |
| Noonan Syndrome |
|
Abnormal pulmonary valve morphology, Pulmonary artery stenosis, Radioulnar synostosis, Clinodacty... |
ORPHA:648 |
| Cutis Laxa, Autosomal Recessive, Type Iid |
|
Hypoplastic right heart, Pneumothorax, Hip dislocation, Ascending tubular aorta aneurysm, Hip dys... |
OMIM:617403 |
| Triosephosphate Isomerase Deficiency |
|
Splenomegaly, Jaundice, Cholecystitis, Prolonged neonatal jaundice, Cholelithiasis |
OMIM:615512 |
| Lowe Oculocerebrorenal Syndrome |
|
Elevated circulating creatine kinase concentration, Wrist swelling, Bicarbonaturia, Aminoaciduria... |
OMIM:309000 |
| Spinocerebellar Ataxia Type 1 |
|
Abnormal brainstem morphology, Atrophy/Degeneration affecting the brainstem |
ORPHA:98755 |
| Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Bicuspid aortic valve, Single transverse palmar crease, Ventricular septal defect, Hydrocephalus,... |
OMIM:619475 |
| Spondyloocular Syndrome |
|
Long toe, Overlapping toe, Arachnodactyly, Femur fracture, Long fingers, Mitral valve prolapse, A... |
OMIM:605822 |
| Intellectual Developmental Disorder, Autosomal Recessive 72 |
|
Secundum atrial septal defect |
OMIM:618665 |
| Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum |
|
Cyst of the ductus choledochus, Bifid uvula, Tapered finger |
OMIM:619480 |
| Distal Deletion 19P |
|
Long toe, Ventricular septal defect, Arachnodactyly, Tricuspid valve prolapse, Umbilical hernia, ... |
ORPHA:96129 |
| Frontometaphyseal Dysplasia 2 |
|
Hip contracture, Short metacarpal, Congenital hip dislocation, Ulnar deviation of the hand, Bicus... |
OMIM:617137 |
| Den Hoed-De Boer-Voisin Syndrome |
|
Ventricular septal defect, Sandal gap, Small hand, 2-3 toe syndactyly, Short foot, Lateral ventri... |
OMIM:619229 |
| Bdv Syndrome |
|
Atrial septal defect |
OMIM:619326 |
| Osteogenesis Imperfecta Congenita, Microcephaly, And Cataracts |
|
Wormian bones |
OMIM:259410 |
| Lymphatic Malformation 6 |
|
Intestinal lymphangiectasia, Varicose veins, Chylothorax, Atrial septal defect, Pleural effusion |
OMIM:616843 |
| Intellectual Developmental Disorder, Autosomal Dominant 47 |
|
Ventricular septal defect |
OMIM:617635 |
| Distal Deletion 6P |
|
Atrial septal defect, Short foot, Abnormal epiphysis morphology, Talipes equinovarus, Short palm,... |
ORPHA:96125 |
| Primary Aldosteronism, Seizures, And Neurologic Abnormalities |
|
Left ventricular hypertrophy, Ventricular septal defect, Patent foramen ovale, Biventricular hype... |
OMIM:615474 |
| Nivelon-Nivelon-Mabille Syndrome |
|
Short metacarpal, Short phalanx of finger, Micromelia, Brachydactyly |
OMIM:600092 |
| Juvenile Polyposis Of Infancy |
|
Patent ductus arteriosus, Abnormal heart morphology, Clubbing of fingers, Midclavicular hypoplasi... |
ORPHA:79076 |
| Microsporidiosis |
|
Glossitis, Cholangitis, Abnormality of the spleen, Peritonitis, Abnormality of the parathyroid gl... |
ORPHA:2552 |
| Alzahrani-Kuwahara Syndrome |
|
Ventricular septal defect, Pulmonary artery sling, Coronary sinus enlargement, Persistent left su... |
OMIM:619268 |
| Generalized Arterial Calcification Of Infancy |
|
Stapes ankylosis, Mixed hearing impairment, Calcification of the auricular cartilage, Abnormality... |
ORPHA:51608 |
| 7Q11.23 Microduplication Syndrome |
|
Ventricular septal defect, Single transverse palmar crease, Long fingers, Patent ductus arteriosu... |
ORPHA:96121 |
| Arthrogryposis, Renal Dysfunction, And Cholestasis 2 |
|
Hip dysplasia, Ventricular septal defect, Right ventricular hypertrophy |
OMIM:613404 |
| Waardenburg Syndrome Type 1 |
|
Meningocele, Spina bifida |
ORPHA:894 |
| Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome |
|
Thin upper lip vermilion, Equinus calcaneus, 2-3 toe syndactyly, Bilateral talipes equinovarus, S... |
ORPHA:522077 |
| Costello Syndrome |
|
Ventricular septal defect, Mitral valve prolapse, Ulnar deviation of finger, Pulmonic stenosis, H... |
ORPHA:3071 |
| C Syndrome |
|
Multicystic kidney dysplasia, Toe syndactyly, Micromelia, Renal hypoplasia/aplasia, Cryptorchidis... |
ORPHA:1308 |
| Turnpenny-Fry Syndrome |
|
Recurrent respiratory infections, Overlapping toe, Tapered finger, Long fingers, Patent ductus ar... |
OMIM:618371 |
| Tenorio Syndrome |
|
Mandibular prognathia, Wide mouth, Macroglossia, Enuresis, Recurrent aphthous stomatitis, Delayed... |
OMIM:616260 |
| Orotic Aciduria |
|
Atrial septal defect, Ventricular septal defect |
OMIM:258900 |
| Arteriosclerosis, Severe Juvenile |
|
Hip dysplasia, Gastric ulcer, Short phalanx of finger, Chronic kidney disease |
OMIM:208060 |
| Spondylo-Ocular Syndrome |
|
Ventricular septal defect |
ORPHA:85194 |
| Arboleda-Tham Syndrome |
|
Recurrent respiratory infections, Brachydactyly, Sandal gap, Deviation of the hallux, Short hallu... |
OMIM:616268 |
| Neurodevelopmental Disorder With Spasticity And Poor Growth |
|
Recurrent respiratory infections, Single transverse palmar crease, Patent ductus arteriosus, Bila... |
OMIM:618076 |
| Teebi-Shaltout Syndrome |
|
Syndactyly, Ulnar deviation of the hand, Ventricular septal defect, Single transverse palmar crea... |
OMIM:272950 |
| Chromosome 15Q25 Deletion Syndrome |
|
Ventricular septal defect, Dextrocardia, Long fingers, Coronary artery fistula, Abnormal cardiac ... |
OMIM:614294 |
| 16Q24.3 Microdeletion Syndrome |
|
Ventricular septal defect, Proximal placement of thumb, Dilated cardiomyopathy, Colpocephaly, Hip... |
ORPHA:261250 |
| Chromosome 14Q11-Q22 Deletion Syndrome |
|
Ventricular septal defect, Patent foramen ovale, Patent ductus arteriosus, Mesomelia, Agenesis of... |
OMIM:613457 |
| Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type |
|
Atrial septal defect, Abnormal palmar dermatoglyphics |
ORPHA:2728 |
| Cutis Laxa, Autosomal Recessive, Type Iic |
|
Atrial septal defect, Prominent superficial veins, Overlapping toe, Pneumothorax, Mitral valve pr... |
OMIM:617402 |
| 47,Xyy Syndrome |
|
Finger clinodactyly, Hydrocephalus, Abnormal brainstem morphology |
ORPHA:8 |
| Fetal Alcohol Syndrome |
|
Atrial septal defect |
ORPHA:1915 |
| Anterior Segment Dysgenesis 2 |
|
Aniridia, Coloboma |
OMIM:610256 |
| Wolf-Hirschhorn Syndrome |
|
Single transverse palmar crease, Intrauterine growth retardation, Accessory spleen, Pseudoepiphys... |
OMIM:194190 |
| Cleft Lip/Palate-Deafness-Sacral Lipoma Syndrome |
|
Meningocele |
ORPHA:2003 |
| Hughes-Stovin Syndrome |
|
Pulmonary artery aneurysm, Vasculitis, Arterial stenosis |
ORPHA:228116 |
| Fanconi Anemia, Complementation Group N |
|
Short thumb, Ventricular septal defect |
OMIM:610832 |
| Iniencephaly |
|
Encephalocele, Spina bifida, Hydrocephalus, Myelomeningocele, Anencephaly, Spinal dysraphism, Hol... |
ORPHA:63259 |
| Coffin-Siris Syndrome 1 |
|
Atrial septal defect, Recurrent respiratory infections, Sandal gap, Single transverse palmar crea... |
OMIM:135900 |
| Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1 |
|
Hyperextensibility of the finger joints, Overlapping toe, Long fingers, Postaxial hand polydactyl... |
OMIM:213980 |
| Fibromuscular Dysplasia, Multifocal |
|
Tortuous cerebral arteries, Vertebral artery tortuosity, Celiac artery dissection, Dilatation of ... |
OMIM:619329 |
| Ebstein Anomaly |
|
Atrial septal defect, Ebstein anomaly of the tricuspid valve |
OMIM:224700 |
| Autosomal Dominant Cutis Laxa |
|
Dilatation of the ventricular cavity, Hip dislocation, Bronchiectasis, Coarctation of aorta, Aort... |
ORPHA:90348 |
| Tsh-Secreting Pituitary Adenoma |
|
Pericardial effusion |
ORPHA:91347 |
| Williams Syndrome |
|
Hypoplasia of penis, Elevated circulating creatine kinase concentration, Cardiomegaly, Rectal pro... |
ORPHA:904 |
| Fountain Syndrome |
|
Spina bifida occulta, Spina bifida |
ORPHA:3219 |
| Neurofibroma |
|
Enlargement of parotid gland, Multiple intestinal neurofibromatosis, Intestinal bleeding, Palmar ... |
ORPHA:252183 |
| Alpha-N-Acetylgalactosaminidase Deficiency Type 1 |
|
Abnormal brainstem morphology |
ORPHA:79279 |
| Mgat2-Cdg |
|
Ventricular septal defect, Patent ductus arteriosus, Abnormal heart morphology, Recurrent upper a... |
ORPHA:79329 |
| Mucolipidosis Type Ii |
|
Hip contracture, Recurrent respiratory infections, Abnormal mitral valve morphology, Limited wris... |
ORPHA:576 |
| Aica-Ribosuria Due To Atic Deficiency |
|
Secundum atrial septal defect |
OMIM:608688 |
| Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia |
|
Molar tooth sign on MRI, Hypoplasia of the brainstem |
OMIM:619306 |
| Noonan Syndrome 1 |
|
Ventricular septal defect, Patent ductus arteriosus, Coarctation of aorta, Hypertrophic cardiomyo... |
OMIM:163950 |
| Myopathy With Extrapyramidal Signs |
|
Ventricular septal defect |
OMIM:615673 |
| Hyperphosphatasia With Impaired Intellectual Development Syndrome 3 |
|
Atrial septal defect, Shortening of all distal phalanges of the fingers |
OMIM:614207 |
| Ifap Syndrome 1, With Or Without Bresheck Syndrome |
|
Atrichia, Neonatal death, Dystrophic fingernails, Absent eyebrow, Alopecia, Multicystic kidney dy... |
OMIM:308205 |
| Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome |
|
Hallux valgus, Atrial septal defect, Ventricular septal defect, Dysplastic corpus callosum, Paten... |
ORPHA:466791 |
| Branchiooculofacial Syndrome |
|
Proximal placement of thumb, Short neck, Postnatal growth retardation, Short thumb, Preaxial hand... |
OMIM:113620 |
| Magel2-Related Prader-Willi-Like Syndrome |
|
Recurrent respiratory infections, Small hand, Short foot, Hip dysplasia, Atrial septal defect |
ORPHA:398069 |
| Neurocutaneous Melanocytosis |
|
Meningocele |
ORPHA:2481 |
| Tuberous Sclerosis 2 |
|
Absence of renal corticomedullary differentiation, Renal cyst, Renal cell carcinoma, Adenoma seba... |
OMIM:613254 |
| Lissencephaly 9 With Complex Brainstem Malformation |
|
Ventricular septal defect |
OMIM:618325 |
| Witteveen-Kolk Syndrome |
|
Branchial fistula, Toe syndactyly, Overlapping toe, Arachnodactyly, Proximal placement of thumb, ... |
OMIM:613406 |
| Cutis Marmorata Telangiectatica Congenita |
|
Finger syndactyly, Multicystic kidney dysplasia, Toe syndactyly, Abnormality of the upper limb, D... |
ORPHA:1556 |
| Joubert Syndrome 5 |
|
Molar tooth sign on MRI, Occipital encephalocele, Thickened superior cerebellar peduncle |
OMIM:610188 |
| Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1 |
|
Ventricular septal defect |
OMIM:616901 |
| Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome |
|
Ventricular hypertrophy, Ventricular septal defect, Intracranial hemorrhage |
ORPHA:369929 |
| Ulnar-Mammary Syndrome |
|
Deformed radius, Hypoplasia of the ulna, Short humerus, Hypoplastic scapulae, Aplasia of the 5th ... |
OMIM:181450 |
| Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Ventricular septal defect, Coxa valga, Tapered finger, Perimembranous ventricular septal defect, ... |
OMIM:301040 |
| Crimean-Congo Hemorrhagic Fever |
|
Pericardial effusion, Myocarditis, Ascites, Orchitis |
ORPHA:99827 |
| Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities |
|
Secundum atrial septal defect, Agenesis of corpus callosum, Pulmonic stenosis |
OMIM:615802 |
| Ctcf-Related Neurodevelopmental Disorder |
|
Broad hallux phalanx, Atrial septal defect, Sandal gap, Single transverse palmar crease, Patent d... |
ORPHA:363611 |
| Costello Syndrome |
|
Hyperextensibility of the finger joints, Ventricular septal defect, Limited elbow movement, Hydro... |
OMIM:218040 |
| Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
|
Pulmonary hypoplasia |
OMIM:271520 |
| Hypermobile Ehlers-Danlos Syndrome |
|
Joint dislocation, Abnormality of the dentition, Elbow dislocation, Malabsorption, Vertigo, Osteo... |
ORPHA:285 |
| Sarcoidosis, Susceptibility To, 1 |
|
Pericardial effusion, Pleural effusion |
OMIM:181000 |
| Steinert Myotonic Dystrophy |
|
Elevated hepatic transaminase, Alopecia, Diabetes mellitus, Hypercholesterolemia, Decreased respo... |
ORPHA:273 |
| Diamond-Blackfan Anemia 5 |
|
Ventricular septal defect |
OMIM:612528 |
| Trichothiodystrophy 4, Nonphotosensitive |
|
Partial agenesis of the corpus callosum, Ventricular septal defect |
OMIM:234050 |
| Trichothiodystrophy 2, Photosensitive |
|
Agenesis of maxillary lateral incisor |
OMIM:616390 |
| Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome |
|
Coloboma, Rhizomelia, 2-3 toe syndactyly, 3-4 finger syndactyly |
OMIM:615877 |
| Familial Acute Necrotizing Encephalopathy |
|
Abnormal brainstem MRI signal intensity, Abnormal brainstem morphology |
ORPHA:88619 |
| Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Recurrent respiratory infections, Ventricular septal defect, Congenital pulmonary airway malforma... |
OMIM:243150 |
| Kabuki Syndrome 1 |
|
Atrial septal defect, Congenital hip dislocation, Ventricular septal defect, Hydrocephalus, Coarc... |
OMIM:147920 |
| Oculoectodermal Syndrome |
|
Transient ischemic attack, Patent ductus arteriosus, Coarctation of aorta, Atrial septal defect, ... |
OMIM:600268 |
| Chromosome 17Q23.1-Q23.2 Deletion Syndrome |
|
Long toe, Bicuspid aortic valve, Secundum atrial septal defect, Long fingers, Patent ductus arter... |
OMIM:613355 |
| Unilateral Polymicrogyria |
|
Stroke, Pulmonary arteriovenous malformation, Abnormal heart morphology |
ORPHA:268943 |
| Eisenmenger Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Clubbing, Aortopulmonary window, Abnormal he... |
ORPHA:97214 |
| Incisors, Lower Central, Absence Of |
|
Agenesis of mandibular central incisor |
OMIM:147330 |
| Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome |
|
Patent foramen ovale |
ORPHA:542306 |
| X-Linked Intellectual Disability, Golabi-Ito-Hall Type |
|
Atrial septal defect |
ORPHA:93947 |
| Pelvis-Shoulder Dysplasia |
|
Hydranencephaly, Hydrocephalus, Spina bifida |
ORPHA:2839 |
| Central Incisors, Absence Of |
|
Agenesis of central incisor |
OMIM:302400 |
| Immunodeficiency 96 |
|
Multicystic kidney dysplasia |
OMIM:619774 |
| Vici Syndrome |
|
Recurrent respiratory infections, Dilated cardiomyopathy, Cardiomyopathy, Atrial septal defect, L... |
OMIM:242840 |
| Ramos-Arroyo Syndrome |
|
Atrial septal defect, Patent ductus arteriosus |
ORPHA:1051 |
| Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome |
|
Atrial septal defect |
ORPHA:457351 |
| Muscle-Eye-Brain Disease With Bilateral Multicystic Leucodystrophy |
|
Abnormal pons morphology, Abnormal brainstem morphology |
ORPHA:370997 |
| Microphthalmia, Syndromic 5 |
|
Coloboma |
OMIM:610125 |
| Joubert Syndrome 38 |
|
Molar tooth sign on MRI |
OMIM:619476 |
| Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion |
|
Ventricular septal defect, Abnormal tibia morphology, Hydrocephalus, Genu valgum, Abnormal heart ... |
ORPHA:363700 |
| Congenital Disorder Of Glycosylation, Type Iia |
|
Slender long bone, Ventricular septal defect, Proximal placement of thumb, Coxa valga |
OMIM:212066 |
| Telangiectasia, Hereditary Hemorrhagic, Type 4 |
|
Transient ischemic attack, Pulmonary arteriovenous malformation, Cerebral arteriovenous malformat... |
OMIM:610655 |
| Goldberg-Shprintzen Syndrome |
|
Ventricular septal defect, Tapered finger, Increased femoral anteversion, Small hand, Clinodactyl... |
OMIM:609460 |
| Noonan Syndrome-Like Disorder With Loose Anagen Hair 1 |
|
Ventricular septal defect, Deep palmar crease, Pulmonic stenosis, Atrial septal defect, Cubitus v... |
OMIM:607721 |
| Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome |
|
Tapered finger, Short thumb, Colpocephaly, Clinodactyly of the 5th finger, Patent foramen ovale, ... |
ORPHA:477993 |
| Atrioventricular Septal Defect 4 |
|
Primum atrial septal defect |
OMIM:614430 |
| Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome |
|
Broad eyebrow, Hypospadias, Sparse eyebrow, Cryptorchidism, Synophrys, Low anterior hairline, Ren... |
ORPHA:495875 |
| Familial Cerebral Saccular Aneurysm |
|
Abnormal brainstem morphology |
ORPHA:231160 |
| Tbck-Related Intellectual Disability Syndrome |
|
Broad toe, Ventricular septal defect, 2-3 toe syndactyly, Broad finger, Pulmonic stenosis, Limb u... |
ORPHA:488632 |
| Retinitis Pigmentosa |
|
Hypoplasia of penis, Abnormal testis morphology, Hyperinsulinemia, Type II diabetes mellitus |
ORPHA:791 |
| Williams-Beuren Syndrome |
|
Hallux valgus, Atrial septal defect, Bicuspid aortic valve, Down-sloping shoulders, Ventricular s... |
OMIM:194050 |
| Cerebrotendinous Xanthomatosis |
|
Abnormality of the hand, Abnormal tibia morphology, Abnormality of the elbow, Abnormal finger mor... |
ORPHA:909 |
| Intellectual Developmental Disorder, Autosomal Dominant 53 |
|
Short femur, Ventricular septal defect, Genu valgum |
OMIM:617798 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
|
Coloboma, Hydrocephalus, Hypoplasia of the brainstem |
OMIM:253280 |
| Diamond-Blackfan Anemia 10 |
|
Patent ductus arteriosus, Ventricular septal defect |
OMIM:613309 |
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 |
|
Hip contracture, Patent ductus arteriosus, Elbow flexion contracture, Broad palm, Lateral ventric... |
OMIM:300868 |
| Combined Oxidative Phosphorylation Deficiency 15 |
|
Ventricular septal defect, Small hand, Single transverse palmar crease, Ventricular septal hypert... |
OMIM:614947 |
| Trichothiodystrophy |
|
Ventricular septal defect, Recurrent bronchopulmonary infections, Partial agenesis of the corpus ... |
ORPHA:33364 |
| Microcephaly, Developmental Delay, And Brittle Hair Syndrome |
|
Atrial septal defect, Aortic root aneurysm |
OMIM:618891 |
| Lumbar Syndrome |
|
Myelomeningocele, Spina bifida |
ORPHA:83628 |
| Atypical Werner Syndrome |
|
Premature arteriosclerosis, Prominent superficial veins, Rocker bottom foot, Abnormal cerebral va... |
ORPHA:79474 |
| Combined Oxidative Phosphorylation Deficiency 3 |
|
Patent ductus arteriosus, Dilated cardiomyopathy, Patent foramen ovale, Concentric hypertrophic c... |
OMIM:610505 |
| Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Abnormal midbrain morphology, Brachydactyly |
ORPHA:293987 |
| Proboscis Lateralis |
|
Ventricular septal defect, Patent ductus arteriosus, Optic disc coloboma, Holoprosencephaly, Chor... |
ORPHA:141099 |
| Vascular Ehlers-Danlos Syndrome |
|
Congenital hip dislocation, Abnormal heart valve morphology, Peripheral arteriovenous fistula, Ar... |
ORPHA:286 |
| Fanconi Anemia, Complementation Group C |
|
Ventricular septal defect, Absent thumb, Absent radius, Short thumb, Complete duplication of thum... |
OMIM:227645 |
| Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Bicuspid aortic valve, Ventricular septal defect, Patent ductus arteriosus, Anomalous origin of l... |
ORPHA:438213 |
| Opitz Gbbb Syndrome |
|
Agenesis of corpus callosum, Umbilical hernia, Ventricular septal defect |
OMIM:300000 |
| Telangiectasia, Hereditary Hemorrhagic, Type 1 |
|
Hepatic arteriovenous malformation, Transient ischemic attack, Cerebral arteriovenous malformatio... |
OMIM:187300 |
| Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
|
Broad toe, Atrial septal defect, Ventricular septal defect, Single transverse palmar crease, Tape... |
OMIM:619522 |
| Diets-Jongmans Syndrome |
|
Umbilical hernia, Hip dysplasia, Ventricular septal defect, Interrupted inferior vena cava with a... |
OMIM:618846 |
| Mosaic Trisomy 20 |
|
Ventricular septal defect, Down-sloping shoulders, Dysplastic tricuspid valve, Abnormal mitral va... |
ORPHA:1724 |
| Chromosome 17P13.1 Deletion Syndrome |
|
Umbilical hernia, Hydrocephalus, Spina bifida |
OMIM:613776 |
| Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Medial calcification of large arteries, Recurrent upper respiratory tract infections, Bronchiecta... |
ORPHA:391487 |
| Craniotubular Dysplasia, Ikegawa Type |
|
Metaphyseal dysplasia, Ventricular septal defect, Broad ischia, Diaphyseal dysplasia, Short palm,... |
OMIM:619727 |
| Wilson Disease |
|
Face of the giant panda sign |
OMIM:277900 |
| Immunodeficiency 87 And Autoimmunity |
|
Dilated cardiomyopathy, Biventricular hypertrophy, Atrial septal defect, Pleural effusion, Atriov... |
OMIM:619573 |
| Neu-Laxova Syndrome 2 |
|
Spina bifida |
OMIM:616038 |
| Proximal Renal Tubular Acidosis |
|
Coloboma, Subvalvular aortic stenosis |
ORPHA:47159 |
| Wiedemann-Rautenstrauch Syndrome |
|
Long toe, Short humerus, Recurrent respiratory infections, Short femur, Prominent scalp veins, Pn... |
OMIM:264090 |
| Fibular Hemimelia |
|
Spina bifida, Abnormal heart morphology |
ORPHA:93323 |
| Neuropathy, Hereditary Sensory And Autonomic, Type Vi |
|
Hand clenching, Ventricular septal defect, Talipes equinovarus |
OMIM:614653 |
| Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome |
|
Ventricular septal defect, Overlapping toe, Cerebral hemorrhage, Patent ductus arteriosus, Clinod... |
OMIM:616682 |
| Medulloblastoma |
|
Vertigo, Adenomatous colonic polyposis, Bilateral sensorineural hearing impairment, Delayed crani... |
ORPHA:616 |
| Paternal Uniparental Disomy Of Chromosome 6 |
|
Umbilical hernia, Patent ductus arteriosus, Ventricular septal defect, Cardiomegaly |
ORPHA:96191 |
| Leigh Syndrome |
|
Agenesis of corpus callosum, Hypertrophic cardiomyopathy, Ventricular septal defect |
ORPHA:506 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13 |
|
Multicystic kidney dysplasia, Elevated circulating creatine kinase concentration, Hydronephrosis,... |
OMIM:615287 |
| Waardenburg Syndrome, Type 1 |
|
Myelomeningocele, Spina bifida |
OMIM:193500 |
| Microcephaly-Lymphedema-Chorioretinopathy Syndrome |
|
Atrial septal defect, Pleural effusion, Chylothorax |
ORPHA:2526 |
| Telangiectasia, Hereditary Hemorrhagic, Type 2 |
|
Hepatic arteriovenous malformation, Transient ischemic attack, Pulmonary arteriovenous malformati... |
OMIM:600376 |
| Holoprosencephaly 2 |
|
Aplasia of the premaxilla, Submucous cleft hard palate, Bilateral cleft lip and palate, Solitary ... |
OMIM:157170 |
| Cloacal Exstrophy |
|
Myelomeningocele, Spina bifida |
ORPHA:93929 |
| Early Infantile Epileptic Encephalopathy |
|
Ventricular septal defect, Short finger, Broad finger, Umbilical hernia, Broad phalanx of the toes |
ORPHA:1934 |
| Hypothyroidism, Congenital, Nongoitrous, 5 |
|
Patent foramen ovale |
OMIM:225250 |
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 4 |
|
Vesicoureteral reflux, Elevated circulating alkaline phosphatase concentration, Renal cortical cysts |
OMIM:618548 |
| Nail-Patella Syndrome |
|
Spina bifida |
OMIM:161200 |
| Sotos Syndrome |
|
Hip contracture, Ventricular septal defect, Small cell lung carcinoma, Bilateral camptodactyly, P... |
ORPHA:821 |
| Diphallia |
|
Atrial septal defect, Abnormal heart morphology, Absent thumb, Abnormal pubic bone morphology |
ORPHA:227 |
| Gabriele-De Vries Syndrome |
|
Hallux valgus, Sydney crease, Sandal gap, Ebstein anomaly of the tricuspid valve, Agenesis of cor... |
ORPHA:506358 |
| Gangliocytoma |
|
Abnormal brainstem morphology |
ORPHA:251937 |
| Waardenburg Syndrome, Type 2E |
|
Aplasia of the semicircular canal, Sensorineural hearing impairment, Hypoplasia of the semicircul... |
OMIM:611584 |
| Bosma Arhinia Microphthalmia Syndrome |
|
Coloboma |
OMIM:603457 |
| Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities |
|
Ventricular septal defect, Sandal gap, Long fingers, Recurrent pneumonia, Cutaneous syndactyly, T... |
OMIM:620330 |
| Neurofibromatosis-Noonan Syndrome |
|
Secundum atrial septal defect, Cubitus valgus, Pulmonic stenosis |
OMIM:601321 |
| Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome |
|
Ventricular septal defect, Metatarsus adductus, Osteopathia striata, Right aortic arch, Hip dyspl... |
ORPHA:513456 |
| Deafness, Autosomal Dominant 80 |
|
Congenital sensorineural hearing impairment, Dilated vestibule of the inner ear, Cochlear aplasia |
OMIM:619274 |
| Norrie Disease |
|
Cryptorchidism, Sensorineural hearing impairment, Protruding ear, Abnormal cochlea morphology, Th... |
ORPHA:649 |
| Congenital Disorder Of Glycosylation, Type Iim |
|
Atrial septal defect, Lateral ventricle dilatation |
OMIM:300896 |
| Tick-Borne Encephalitis |
|
Vertigo, Tongue fasciculations, Tinnitus, Abnormality of the vestibular nerve, Hearing impairment |
ORPHA:297 |
| Holoprosencephaly 7 |
|
Alobar holoprosencephaly, Hydrocephalus, Lobar holoprosencephaly, Holoprosencephaly, Occipital me... |
OMIM:610828 |
| Neurofibromatosis, Type I |
|
Aqueductal stenosis, Hydrocephalus, Spina bifida |
OMIM:162200 |
| Split Cord Malformation |
|
Cervical spina bifida, Myelomeningocele, Lipomyelomeningocele, Meningocele, Hydrocephalus |
ORPHA:573278 |
| Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia |
|
Meningocele |
ORPHA:1010 |
| Juvenile Polyposis Syndrome |
|
Transient ischemic attack, Pulmonary arteriovenous malformation, Cerebral arteriovenous malformat... |
ORPHA:2929 |
| Osteoporosis-Pseudoglioma Syndrome |
|
Metaphyseal widening, Ventricular septal defect, Tibial bowing |
OMIM:259770 |
| Lipodystrophy, Familial Partial, Type 7 |
|
Pleural effusion, Spontaneous pneumothorax, Pulmonary arteriovenous malformation |
OMIM:606721 |
| Aicardi Syndrome |
|
Spina bifida |
OMIM:304050 |
| Semilobar Holoprosencephaly |
|
Neural tube defect, Hydrocephalus, Hip dislocation, Abnormal brainstem morphology |
ORPHA:220386 |
| Alobar Holoprosencephaly |
|
Neural tube defect, Hydrocephalus, Hip dislocation, Abnormal brainstem morphology |
ORPHA:93925 |
| Midline Interhemispheric Variant Of Holoprosencephaly |
|
Neural tube defect, Hydrocephalus, Hip dislocation, Abnormal brainstem morphology |
ORPHA:93926 |
| Lobar Holoprosencephaly |
|
Neural tube defect, Hydrocephalus, Hip dislocation, Abnormal brainstem morphology |
ORPHA:93924 |
| Fragile X-Associated Tremor/Ataxia Syndrome |
|
Abnormal brainstem morphology |
ORPHA:93256 |
| Knobloch Syndrome 1 |
|
Occipital meningocele, Occipital encephalocele, Spina bifida occulta |
OMIM:267750 |
| Exstrophy-Epispadias Complex |
|
Hydrocephalus, Spina bifida, Abnormal heart morphology |
ORPHA:322 |
