| Ciliary Dyskinesia, Primary, 40 |
|
Unbalanced atrioventricular canal defect, Reduced respiratory ciliary beating frequency, Atrioven... |
OMIM:618300 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Broad thumb, Finger syndactyly, Fibular aplasia, Micrognathia, Aplasia/Hypoplasia of the patella,... |
ORPHA:3320 |
| Ciliary Dyskinesia, Primary, 7 |
|
Dextrocardia, Situs inversus totalis, Abnormal ciliary motility, Ciliary dyskinesia |
OMIM:611884 |
| Heterotaxy, Visceral, 6, Autosomal |
|
Hypoplastic left heart, Total anomalous pulmonary venous return, Unbalanced atrioventricular cana... |
OMIM:614779 |
| Heterotaxy, Visceral, 4, Autosomal |
|
Total anomalous pulmonary venous return, Pulmonary artery atresia, Bilateral superior vena cava, ... |
OMIM:613751 |
| Congenital Absence Of Upper Arm And Forearm With Hand Present |
|
Abnormal heart morphology, Abnormal hip bone morphology, Abnormal thorax morphology, Polydactyly,... |
ORPHA:294975 |
| Polydactyly, Postaxial, Type A1 |
|
Broad thumb, Postaxial foot polydactyly, Cutaneous syndactyly of toes, Broad hallux, Preaxial han... |
OMIM:174200 |
| Conotruncal Heart Malformations |
|
Complete atrioventricular canal defect, Truncus arteriosus, Coarctation of aorta, Transposition o... |
OMIM:217095 |
| Atrioventricular Septal Defect, Susceptibility To, 2 |
|
Atrioventricular canal defect, Pulmonary artery atresia, Right aortic arch with mirror image bran... |
OMIM:606217 |
| Heterotaxy, Visceral, 2, Autosomal |
|
Bilateral superior vena cava, Left atrial isomerism, Abdominal situs inversus, Atrioventricular c... |
OMIM:605376 |
| Ciliary Dyskinesia, Primary, 3 |
|
Situs inversus totalis, Ciliary dyskinesia |
OMIM:608644 |
| Congenital Heart Defects, Multiple Types, 6 |
|
Total anomalous pulmonary venous return, Secundum atrial septal defect, Tetralogy of Fallot, Righ... |
OMIM:613854 |
| Ciliary Dyskinesia, Primary, 24 |
|
Immotile cilia, Situs inversus totalis, Ciliary dyskinesia |
OMIM:615481 |
| Ciliary Dyskinesia, Primary, 39 |
|
Double outlet right ventricle, Dextrocardia |
OMIM:618254 |
| Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Abnormal vertebral morphology, Abnormality of the vertebral column, Atrioventricular canal defect... |
OMIM:314390 |
| Ciliary Dyskinesia, Primary, 16 |
|
Situs inversus totalis, Abnormal ciliary motility, Ciliary dyskinesia |
OMIM:614017 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Short forearm, Broad thumb, Finger syndactyly, Carpal synostosis, Hepatosplenomegaly, Micrognathi... |
OMIM:274000 |
| Right Atrial Isomerism |
|
Aortopulmonary collateral arteries, Common atrium, Total anomalous pulmonary venous return, Tetra... |
OMIM:208530 |
| Ciliary Dyskinesia, Primary, 23 |
|
Respiratory insufficiency due to defective ciliary clearance, Situs inversus totalis, Ciliary dys... |
OMIM:615451 |
| Ciliary Dyskinesia, Primary, 29 |
|
Situs inversus totalis, Ciliary dyskinesia |
OMIM:615872 |
| Ciliary Dyskinesia, Primary, 17 |
|
Situs inversus totalis, Dextrocardia, Ciliary dyskinesia |
OMIM:614679 |
| Tricuspid Atresia |
|
Hypoplasia of right ventricle, Patent foramen ovale, Ventricular septal defect, Persistent left s... |
ORPHA:1209 |
| Fibular Hemimelia |
|
Toe syndactyly, Short tibia, Limited knee flexion/extension, Finger syndactyly, Structural foot d... |
ORPHA:93323 |
| Syndactyly Type 2 |
|
Postaxial foot polydactyly, Sandal gap, Camptodactyly of finger, Preaxial foot polydactyly, 2-3 t... |
ORPHA:93403 |
| Ciliary Dyskinesia, Primary, 13 |
|
Immotile cilia, Situs inversus totalis, Ciliary dyskinesia |
OMIM:613193 |
| Heterotaxy, Visceral, 12, Autosomal |
|
Ventricular septal defect, Discordant atrioventricular connection, Single coronary artery origin,... |
OMIM:619702 |
| Fallot Complex With Severe Mental And Growth Retardation |
|
Tetralogy of Fallot, Double outlet right ventricle, Pulmonic stenosis, Ventricular septal defect |
OMIM:601127 |
| Ciliary Dyskinesia, Primary, 18 |
|
Immotile cilia, Abdominal situs ambiguus, Situs inversus totalis, Respiratory insufficiency due t... |
OMIM:614874 |
| Ciliary Dyskinesia, Primary, 30 |
|
Situs inversus totalis, Ventricular septal defect, Dextrocardia, Respiratory insufficiency due to... |
OMIM:616037 |
| Ventricular Septal Defect 1 |
|
Tetralogy of Fallot, Atrioventricular canal defect, Ventricular septal defect, Atrial septal defe... |
OMIM:614429 |
| Axial Mesodermal Dysplasia Spectrum |
|
Abnormality of the ureter, Abnormality of the spleen, Micrognathia, Abnormal gastrointestinal tra... |
ORPHA:1834 |
| Cleft-Limb-Heart Malformation Syndrome |
|
Syndactyly, Truncus arteriosus |
OMIM:215850 |
| Fliedner-Zweier Syndrome |
|
Unilateral renal agenesis, Multicystic kidney dysplasia, Kyphosis, Ventricular septal defect, Hyd... |
OMIM:620511 |
| Recombinant 8 Syndrome |
|
Deep plantar creases, Abnormal sternum morphology, Camptodactyly of finger, Tetralogy of Fallot, ... |
ORPHA:96167 |
| Otopalatodigital Syndrome Type 2 |
|
Synostosis of carpal bones, Elbow dislocation, Carpal synostosis, Fibular aplasia, Micrognathia, ... |
ORPHA:90652 |
| Ciliary Dyskinesia, Primary, 10 |
|
Situs inversus totalis, Ciliary dyskinesia |
OMIM:612518 |
| Heterotaxy, Visceral, 8, Autosomal |
|
Hypoplastic left heart, Aortopulmonary collateral arteries, Unbalanced atrioventricular canal def... |
OMIM:617205 |
| Czeizel-Losonci Syndrome |
|
Micrognathia, 2-3 finger syndactyly, Thoracolumbar scoliosis, Dextrocardia, High palate, Ureteral... |
ORPHA:2437 |
| Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome |
|
Mesomelia, Abnormal epiphysis morphology, Elbow dislocation, Camptodactyly of finger, Abnormal lu... |
ORPHA:2631 |
| Ciliary Dyskinesia, Primary, 27 |
|
Respiratory insufficiency due to defective ciliary clearance, Situs inversus totalis, Ciliary dys... |
OMIM:615504 |
| 14Q24.1Q24.3 Microdeletion Syndrome |
|
Short thumb, Intestinal malrotation, Abnormal heart morphology, Cryptorchidism, Limited elbow ext... |
ORPHA:401935 |
| Synpolydactyly 1 |
|
Postaxial foot polydactyly, Broad hallux, Finger syndactyly, Preaxial foot polydactyly, Mesoaxial... |
OMIM:186000 |
| Polydactyly, Preaxial Ii |
|
Opposable triphalangeal thumb, Postaxial foot polydactyly, Preaxial hand polydactyly, Preaxial fo... |
OMIM:174500 |
| Ciliary Dyskinesia, Primary, 38 |
|
Immotile cilia, Situs inversus totalis, Dextrocardia |
OMIM:618063 |
| Congenital Heart Defects, Multiple Types, 7 |
|
Aortopulmonary collateral arteries, Absence of the pulmonary valve, Tetralogy of Fallot, Right ao... |
OMIM:618780 |
| Ciliary Dyskinesia, Primary, 28 |
|
Respiratory insufficiency due to defective ciliary clearance, Situs inversus totalis, Ciliary dys... |
OMIM:615505 |
| Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3 |
|
Hypoplastic left heart, Unilateral renal agenesis, Anomalous origin of left coronary artery from ... |
OMIM:618845 |
| Atrial Septal Defect 2 |
|
Atrioventricular canal defect, Ventricular septal defect, Atrial septal defect, Dextrocardia, Pat... |
OMIM:607941 |
| Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome |
|
High, narrow palate, Short distal phalanx of finger, Abnormal lung lobation, Micrognathia, Abnorm... |
ORPHA:2516 |
| Vacterl/Vater Association |
|
Multicystic kidney dysplasia, Finger syndactyly, Cryptorchidism, Congenital diaphragmatic hernia,... |
ORPHA:887 |
| Boomerang Dysplasia |
|
Narrow chest, Finger syndactyly, Micromelia, Decreased response to growth hormone stimulation tes... |
ORPHA:1263 |
| Atelosteogenesis, Type Ii |
|
Micrognathia, Increased intervertebral space, Talipes equinovarus, Short neck, Short greater scia... |
OMIM:256050 |
| Osteopathia Striata With Cranial Sclerosis |
|
Multicystic kidney dysplasia, Joint contracture of the hand, Fibular aplasia, Micrognathia, Ventr... |
OMIM:300373 |
| Nail-Patella Syndrome |
|
Equinovarus deformity, Talipes calcaneovalgus, Abnormal tibia morphology, Contracture of the dist... |
ORPHA:2614 |
| Ciliary Dyskinesia, Primary, 26 |
|
Respiratory insufficiency due to defective ciliary clearance, Immotile cilia, Situs inversus tota... |
OMIM:615500 |
| Heterotaxy, Visceral, 7, Autosomal |
|
Interrupted aortic arch, Common atrium, Pulmonary artery hypoplasia, Total anomalous pulmonary ve... |
OMIM:616749 |
| Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies |
|
Overlapping toe, Overlapping fingers, Cryptorchidism, Ventricular septal defect, Atrial septal de... |
OMIM:618316 |
| Lethal Congenital Contracture Syndrome 10 |
|
Narrow palate, Narrow chest, Broad ribs, Overlapping fingers, Micrognathia, Femoral bowing, Thora... |
OMIM:617022 |
| Acro-Renal-Mandibular Syndrome |
|
Thin ribs, Hypoplastic scapulae, Finger syndactyly, Rudimentary fibula, Micrognathia, Congenital ... |
ORPHA:958 |
| Prune Belly Syndrome |
|
Multicystic kidney dysplasia, Abnormality of the ureter, Cryptorchidism, Ventricular septal defec... |
ORPHA:2970 |
| Ciliary Dyskinesia, Primary, 32 |
|
Immotile cilia, Situs inversus totalis, Ciliary dyskinesia |
OMIM:616481 |
| Fanconi Anemia, Complementation Group B |
|
Abnormal vertebral morphology, Bilateral radial aplasia, Aplastic anemia, Absent thumb, Duodenal ... |
OMIM:300514 |
| Atelosteogenesis, Type I |
|
Radial bowing, Elbow dislocation, Fibular aplasia, Bell-shaped thorax, Micrognathia, Cryptorchidi... |
OMIM:108720 |
| Fetal Encasement Syndrome |
|
Upper limb undergrowth, Tetralogy of Fallot, Horseshoe kidney, Increased urinary 8-oxo-7,8-dihydr... |
OMIM:613630 |
| Ciliary Dyskinesia, Primary, 25 |
|
Immotile cilia, Situs inversus totalis, Dextrocardia, Ciliary dyskinesia |
OMIM:615482 |
| Ciliary Dyskinesia, Primary, 2 |
|
Immotile cilia, Situs inversus totalis, Dextrocardia, Ciliary dyskinesia |
OMIM:606763 |
| Ciliary Dyskinesia, Primary, 22 |
|
Immotile cilia, Situs inversus totalis, Dextrocardia, Respiratory insufficiency due to defective ... |
OMIM:615444 |
| Multiple Pterygium Syndrome, Escobar Variant |
|
Intercrural pterygium, Talipes calcaneovalgus, Micrognathia, Dysplastic patella, Cryptorchidism, ... |
OMIM:265000 |
| Congenital Heart Defects, Multiple Types, 4 |
|
Aortic valve stenosis, Hypoplastic left heart, Tetralogy of Fallot, Atrioventricular canal defect... |
OMIM:615779 |
| Heart Defects-Limb Shortening Syndrome |
|
Narrow chest, Abnormal form of the vertebral bodies, Abnormal tricuspid valve morphology, Mesomel... |
ORPHA:1354 |
| Carpenter Syndrome 1 |
|
Lambdoidal craniosynostosis, Joint contracture of the hand, Toe syndactyly, Shallow acetabular fo... |
OMIM:201000 |
| Microgastria-Limb Reduction Defect Syndrome |
|
Multicystic kidney dysplasia, Elbow dislocation, Abnormality of the spleen, Esophagitis, Amelia, ... |
ORPHA:2538 |
| Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Platyspondyly, Narrow chest, Rhizomelia, Abnormal clavicle morphology, Abnormal epiphysis morphol... |
ORPHA:93267 |
| Scimitar Syndrome |
|
Anomalous origin of left coronary artery from the pulmonary artery, Ventricular septal defect, He... |
ORPHA:185 |
| Ciliary Dyskinesia, Primary, 19 |
|
Immotile cilia, Respiratory insufficiency due to defective ciliary clearance, Situs inversus tota... |
OMIM:614935 |
| Adams-Oliver Syndrome 6 |
|
Renal hypoplasia, Foot oligodactyly, Truncus arteriosus, Ventricular septal defect, Brachydactyly... |
OMIM:616589 |
| Poland Syndrome |
|
Hypoplasia of deltoid muscle, Short ribs, Unilateral oligodactyly, Rib fusion, Sprengel anomaly, ... |
OMIM:173800 |
| Cousin Syndrome |
|
Hypoplastic scapulae, Joint contracture of the hand, Hypoplastic iliac wing, Fibular aplasia, Bel... |
OMIM:260660 |
| Familial Apolipoprotein Gene Cluster Deletion Syndrome |
|
Hypocholesterolemia, Hypotriglyceridemia, Decreased circulating apolipoprotein A-I concentration,... |
OMIM:620058 |
| Emanuel Syndrome |
|
Aortic valve stenosis, Micrognathia, Cryptorchidism, Congenital diaphragmatic hernia, Ventricular... |
OMIM:609029 |
| Nail-Patella Syndrome |
|
Patellar aplasia, Hematuria, Talipes equinovarus, Pes planus, Disproportionate prominence of the ... |
OMIM:161200 |
| Transposition Of The Great Arteries, Dextro-Looped |
|
Transposition of the great arteries |
OMIM:608808 |
| 17Q12 Microduplication Syndrome |
|
Abnormal vertebral morphology, Toe syndactyly, Finger syndactyly, Tracheoesophageal fistula, Atri... |
ORPHA:261272 |
| Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome |
|
Aplasia/Hypoplasia of the radius, Abnormal scapula morphology, Finger syndactyly, Abnormal femur ... |
ORPHA:2141 |
| Genitopalatocardiac Syndrome |
|
Right aortic arch, Ventricular septal defect, Renal cyst, Transposition of the great arteries, Do... |
OMIM:231060 |
| 22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome) |
|
Abnormal heart morphology, Hypocalcemia |
DECIPHER:16 |
| Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Congenital shortened small intestine, Micrognathia, Ventricular septal defect, Bicuspid aortic va... |
OMIM:265380 |
| Li-Campeau Syndrome |
|
Patellar hypoplasia, Cryptorchidism, Patent foramen ovale, Ventricular septal defect, Single tran... |
OMIM:619189 |
| Ciliary Dyskinesia, Primary, 14 |
|
Heterotaxy, Situs inversus totalis, Abnormal ciliary motility, Ciliary dyskinesia |
OMIM:613807 |
| Kagami-Ogata Syndrome |
|
Thin ribs, Bell-shaped thorax, Diastasis recti, Splenomegaly, Inguinal hernia, Kyphoscoliosis, Ve... |
OMIM:608149 |
| Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome |
|
Radial bowing, Intestinal malrotation, Micrognathia, Splenomegaly, Tibial bowing, Abnormality of ... |
ORPHA:3035 |
| Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly |
|
Aplasia/Hypoplasia of fingers, Toe syndactyly, Finger syndactyly, Radial bowing, Clinodactyly, Hy... |
OMIM:228930 |
| Ritscher-Schinzel Syndrome 1 |
|
Aortic valve stenosis, Hypoplastic left heart, Tetralogy of Fallot, Decreased response to growth ... |
OMIM:220210 |
| Congenital Contractural Arachnodactyly |
|
Congenital kyphoscoliosis, Congenital contracture, Arthrogryposis multiplex congenita, Camptodact... |
ORPHA:115 |
| Léri-Weill Dyschondrosteosis |
|
Short tibia, Radial bowing, Elbow dislocation, Abnormal tibia morphology, Genu valgum, Patellar a... |
ORPHA:240 |
| Odontochondrodysplasia 1 |
|
Flat acetabular roof, Polycystic kidney dysplasia, Cone-shaped epiphyses of the phalanges of the ... |
OMIM:184260 |
| Emanuel Syndrome |
|
Aortic valve stenosis, Micrognathia, Cryptorchidism, Congenital diaphragmatic hernia, Ventricular... |
ORPHA:96170 |
| Congenital Pseudoarthrosis Of The Clavicle |
|
Situs inversus totalis, Dextrocardia |
ORPHA:66630 |
| Genitopatellar Syndrome |
|
Hypoplastic ilia, Multicystic kidney dysplasia, Gastroesophageal reflux, Micrognathia, Cryptorchi... |
ORPHA:85201 |
| Laryngotracheoesophageal Cleft Type 4 |
|
Abnormal form of the vertebral bodies, Abnormality of the spleen, Tracheal stenosis, Abnormal low... |
ORPHA:93941 |
| You-Hoover-Fong Syndrome |
|
Clinodactyly, Coarctation of aorta, Brachydactyly, Pectus excavatum, Double aortic arch, Cleft pa... |
OMIM:616954 |
| Fibrochondrogenesis 1 |
|
Thin ribs, Hypoplastic scapulae, Joint contracture of the hand, Small hand, Broad long bones, Sho... |
OMIM:228520 |
| Meier-Gorlin Syndrome 1 |
|
Thin ribs, Joint contracture of the hand, Small hand, Elbow dislocation, Cutaneous finger syndact... |
OMIM:224690 |
| Thanatophoric Dysplasia |
|
Platyspondyly, Abnormal ilium morphology, Narrow chest, Kyphosis, Micromelia, Abnormal sacroiliac... |
ORPHA:2655 |
| Short Stature-Wormian Bones-Dextrocardia Syndrome |
|
Midshaft hypospadias, Camptodactyly of finger, Anterior hypopituitarism, Micrognathia, Cryptorchi... |
ORPHA:2863 |
| Ciliary Dyskinesia, Primary, 49, Without Situs Inversus |
|
Situs inversus totalis, Ciliary dyskinesia |
OMIM:620197 |
| Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension |
|
Sandal gap, Patellar hypoplasia, Hypoplasia of the lesser trochanter, Micrognathia, Tarsal synost... |
OMIM:147891 |
| Pentalogy Of Cantrell |
|
Aplasia/Hypoplasia of the radius, Polysplenia, Abnormal sternum morphology, Tetralogy of Fallot, ... |
ORPHA:1335 |
| Lipodystrophy, Congenital Generalized, Type 3 |
|
Insulin resistance, Hepatosplenomegaly, Splenomegaly, Hypocalcemia, Hypercholesterolemia, Hypertr... |
OMIM:612526 |
| Verheij Syndrome |
|
Short 5th finger, Renal hypoplasia, Clinodactyly, Truncus arteriosus, Ventricular septal defect, ... |
OMIM:615583 |
| Ciliary Dyskinesia, Primary, 9 |
|
Situs inversus totalis, Ciliary dyskinesia |
OMIM:612444 |
| Cayler Cardiofacial Syndrome |
|
Tetralogy of Fallot, Patent ductus arteriosus, Ventricular septal defect |
OMIM:125520 |
| Greig Cephalopolysyndactyly Syndrome |
|
Joint contracture of the hand, Postaxial foot polydactyly, Broad thumb, Delayed cranial suture cl... |
OMIM:175700 |
| Congenital Alveolar Capillary Dysplasia |
|
Abnormal vertebral morphology, Aortic valve stenosis, Hypoplastic left heart, Annular pancreas, V... |
ORPHA:210122 |
| Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome |
|
Tetralogy of Fallot, Genu valgum, Anal atresia, Hypospadias, Hypoplasia of penis |
ORPHA:1381 |
| Mosaic Trisomy 9 |
|
Elbow dislocation, Endocardial fibroelastosis, Micrognathia, Cryptorchidism, Ventricular septal d... |
ORPHA:99776 |
| Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
|
Congenital diaphragmatic hernia, Bilateral single transverse palmar creases, Bicuspid aortic valv... |
ORPHA:1120 |
| Short-Rib Thoracic Dysplasia 12 |
|
Hypoplastic scapulae, Broad foot, Ventricular septal defect, Short neck, Short palm, Short foot, ... |
OMIM:269860 |
| Holt-Oram Syndrome |
|
Broad thumb, Finger syndactyly, Ventricular septal defect, Radioulnar synostosis, Sprengel anomal... |
ORPHA:392 |
| Porencephaly, Cerebellar Hypoplasia, And Internal Malformations |
|
Tetralogy of Fallot, Situs inversus totalis, Atrial septal defect |
OMIM:601322 |
| Orofaciodigital Syndrome Vi |
|
Toe syndactyly, Clinodactyly, Fibular aplasia, Micrognathia, High palate, Hypoplastic left heart,... |
OMIM:277170 |
| Esophageal Atresia |
|
Abnormal vertebral morphology, Clinodactyly, Esophagitis, Abnormal gastrointestinal tract morphol... |
ORPHA:1199 |
| Congenital Heart Defects, Multiple Types, 5 |
|
Aortic valve stenosis, Dilated cardiomyopathy, Tetralogy of Fallot, Ventricular septal defect, Bi... |
OMIM:617912 |
| Melnick-Needles Syndrome |
|
Delayed cranial suture closure, Micrognathia, Bowing of the long bones, Cone-shaped epiphyses of ... |
ORPHA:2484 |
| Atelosteogenesis Type I |
|
Micrognathia, Talipes equinovarus, Abnormal fibula morphology, Laryngotracheal stenosis, Joint di... |
ORPHA:1190 |
| Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs |
|
Unilateral renal agenesis, Short distal phalanx of finger, Truncus arteriosus, Ventricular septal... |
OMIM:601355 |
| Syndactyly, Type Iv |
|
Supernumerary metacarpal bones, 1-5 finger complete cutaneous syndactyly, Polydactyly, 2-3 toe sy... |
OMIM:186200 |
| Mesomelic Dysplasia, Savarirayan Type |
|
High iliac wing, Elbow dislocation, Hypoplasia of proximal radius, Fibular aplasia, Glenoid fossa... |
ORPHA:85170 |
| Heterotaxy, Visceral, 9, Autosomal, With Male Infertility |
|
Situs inversus totalis, Dextrocardia |
OMIM:618948 |
| Mosaic Trisomy 8 |
|
Narrow chest, Arthrogryposis multiplex congenita, Deep plantar creases, Camptodactyly of finger, ... |
ORPHA:96061 |
| Distal Deletion 17Q |
|
Small hand, Deviation of finger, Abnormal form of the vertebral bodies, Micromelia, Aplasia/Hypop... |
ORPHA:1597 |
| Bone Dysplasia, Lethal Holmgren Type |
|
Bell-shaped thorax, Hernia, Talipes, Short neck, Atrial septal defect, Metaphyseal dysplasia, Pat... |
ORPHA:1842 |
| Femoral-Facial Syndrome |
|
Toe syndactyly, Micrognathia, Cryptorchidism, Humeroradial synostosis, Ventricular septal defect,... |
OMIM:134780 |
| Syndactyly, Type Iii |
|
Short 5th finger, Toe syndactyly, Absent middle phalanx of 5th finger, 4-5 finger syndactyly, 3-4... |
OMIM:186100 |
| Syndactyly Type 1 |
|
2-3 toe syndactyly, Toe syndactyly, 3-4 finger syndactyly, Symphalangism affecting the phalanges ... |
ORPHA:93402 |
| Multiple Epiphyseal Dysplasia, Lowry Type |
|
Epiphyseal dysplasia, Delayed epiphyseal ossification, Rhizomelia, Abnormal sternum morphology, S... |
ORPHA:166016 |
| Congenital Tracheomalacia |
|
Ventricular septal defect, Atrial septal defect, Single ventricle, Double aortic arch, Patent duc... |
ORPHA:95430 |
| Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Decreased fibular diameter, Micrognathia, Ventricular septal defect, Short neck, Hypospadias, Tho... |
OMIM:616897 |
| Ciliary Dyskinesia, Primary, 52 |
|
Hypoplastic left heart, Total anomalous pulmonary venous return, Mitral atresia, Abdominal situs ... |
OMIM:620570 |
| Progressive Familial Intrahepatic Cholestasis |
|
Failure to thrive, Splenomegaly, Hypocalcemia, Hepatomegaly, Reduced bone mineral density |
ORPHA:172 |
| Lethal Faciocardiomelic Dysplasia |
|
Hypoplastic left heart, Short 5th finger, Microglossia, Microretrognathia, Sandal gap, Short tibi... |
ORPHA:1972 |
| Acrocardiofacial Syndrome |
|
Toe syndactyly, Finger syndactyly, Camptodactyly of finger, Tetralogy of Fallot, Mitral stenosis,... |
ORPHA:2008 |
| Hypocalcemia, Autosomal Dominant 2 |
|
Abnormal blood phosphate concentration, Hypocalcemia |
OMIM:615361 |
| Heterotaxy, Visceral, 1, X-Linked |
|
Posteriorly placed anus, Ventricular septal defect, Bilateral trilobed lung, Left superior vena c... |
OMIM:306955 |
| Orofaciodigital Syndrome Type 10 |
|
Polysyndactyly of hallux, Radial deviation of the hand, Short tibia, Short toe, Preaxial polydact... |
ORPHA:2756 |
| Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Abnormal vertebral morphology, 11 pairs of ribs, Cryptorchidism, Ventricular septal defect, Trach... |
ORPHA:77298 |
| Laterality Defects, Autosomal Dominant |
|
Situs inversus totalis, Heterotaxy |
OMIM:601086 |
| 16P13.11 Microduplication Syndrome |
|
Tetralogy of Fallot, Ventricular septal defect, Coarctation of aorta, Transposition of the great ... |
ORPHA:261243 |
| Phocomelia, Schinzel Type |
|
Radial bowing, Abnormal tibia morphology, Fibular aplasia, Micrognathia, Cryptorchidism, Humerora... |
ORPHA:2879 |
| Ciliary Dyskinesia, Primary, 12 |
|
Situs inversus totalis, Ciliary dyskinesia |
OMIM:612650 |
| Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 |
|
Knee flexion contracture, Ventricular septal defect, Thoracic scoliosis, Postaxial polydactyly, A... |
OMIM:603387 |
| Methimazole Embryofetopathy |
|
Abnormal aortic morphology, Ventricular septal defect, Coarctation of aorta, Tracheoesophageal fi... |
ORPHA:1923 |
| Spondylocostal Dysostosis 4, Autosomal Recessive |
|
Aplasia of posterior communicating artery, Bell-shaped thorax, Short neck, Dextrocardia, Vertebra... |
OMIM:613686 |
| Symphalangism With Multiple Anomalies Of Hands And Feet |
|
Abnormality of the distal phalanges of the toes, Absent distal interphalangeal creases, Toe synda... |
ORPHA:3246 |
| Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Hypoplastic ilia, Narrow chest, Thoracic hypoplasia, Lateral clavicle hook, Micromelia, Horizonta... |
OMIM:617895 |
| Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Toe syndactyly, Shallow acetabular fossae, Broad thumb, Hypoplastic iliac wing, Micrognathia, Cry... |
OMIM:609945 |
| Fryns Syndrome |
|
Multicystic kidney dysplasia, Micrognathia, Cryptorchidism, Congenital diaphragmatic hernia, Shor... |
ORPHA:2059 |
| Thoraco-Abdominal Enteric Duplication |
|
Duodenal stenosis, Intestinal malrotation, Camptodactyly of finger, Abnormal tricuspid valve morp... |
ORPHA:1759 |
| Vater/Vacterl Association |
|
Abnormal vertebral morphology, Ventricular septal defect, Radioulnar synostosis, Absent radius, A... |
OMIM:192350 |
| Catel-Manzke Syndrome |
|
Abnormal epiphysis morphology, Camptodactyly of finger, Micrognathia, Radial deviation of the 2nd... |
ORPHA:1388 |
| Tibial Aplasia-Ectrodactyly Syndrome |
|
Aplasia/Hypoplasia of the tibia, Popliteal pterygium, Finger syndactyly, Ectrodactyly, Preaxial h... |
ORPHA:3329 |
| Ciliary Dyskinesia, Primary, 20 |
|
Aortic valve stenosis, Situs inversus totalis, Atrial situs inversus, Ventricular septal defect, ... |
OMIM:615067 |
| Vertebral, Cardiac, Renal, And Limb Defects Syndrome 2 |
|
Chronic kidney disease, Unilateral renal agenesis, Renal hypoplasia, Narrow chest, Hypoplastic le... |
OMIM:617661 |
| Delpire-Mcneill Syndrome |
|
Tracheoesophageal fistula, Dysphagia, Hip dislocation, Ventricular septal defect |
OMIM:619083 |
| Distal Triplication 15Q |
|
Scoliosis, Kyphosis, Abnormal sternum morphology, Horseshoe kidney, Flexion contracture, Abnormal... |
ORPHA:314588 |
| Camptodactyly Syndrome, Guadalajara Type 2 |
|
Short 5th toe, Patellar hypoplasia, Camptodactyly of finger, Cuboid-shaped vertebral bodies, Tali... |
ORPHA:1326 |
| Stankiewicz-Isidor Syndrome |
|
Absent thumb, Short thumb, Micrognathia, Cryptorchidism, Truncus arteriosus, Ventricular septal d... |
OMIM:617516 |
| Opitz Gbbb Syndrome |
|
Aortic root aneurysm, Ankyloglossia, Micrognathia, Cryptorchidism, Congenital diaphragmatic herni... |
ORPHA:2745 |
| Lymphedema, Cardiac Septal Defects, And Characteristic Facies |
|
Ventricular septal defect, Overriding aorta, Atrial septal defect, Omphalocele, Patent ductus art... |
OMIM:601927 |
| Marden-Walker Syndrome |
|
Joint contracture of the hand, Micrognathia, Cryptorchidism, Arachnodactyly, Talipes equinovarus,... |
OMIM:248700 |
| Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Short tibia, Bell-shaped thorax, Cryptorchidism, Anal atresia, Flat acetabular roof, Patent ductu... |
OMIM:616300 |
| Zimmermann-Laband Syndrome 3 |
|
Bifid uvula, Short distal phalanx of finger, Aplasia of the distal phalanx of the 5th toe, Clinod... |
OMIM:618658 |
| Mesomelic Dysplasia, Savarirayan Type |
|
Short forearm, Short tibia, Abnormal foot morphology, Talipes equinovalgus, Supernumerary nipple,... |
OMIM:605274 |
| Triphalangeal Thumb With Polysyndactyly |
|
Broad thumb, Finger syndactyly, Preaxial hand polydactyly, Triphalangeal thumb, Postaxial hand po... |
OMIM:190605 |
| Cardiac-Urogenital Syndrome |
|
Biventricular hypertrophy, Ventricular septal defect, Atrial septal defect, Dextrocardia, Patent ... |
OMIM:618280 |
| C Syndrome |
|
Hip dislocation, Fused sternal ossification centers, Toe syndactyly, Postaxial foot polydactyly, ... |
OMIM:211750 |
| Atelosteogenesis Type Ii |
|
Hypoplastic cervical vertebrae, Elbow dislocation, Equinovarus deformity, Bell-shaped thorax, Mic... |
ORPHA:56304 |
| Recombinant Chromosome 8 Syndrome |
|
Joint contracture of the hand, Tetralogy of Fallot, Micrognathia, Clinodactyly of the 5th finger,... |
OMIM:179613 |
| Pseudodiastrophic Dysplasia |
|
Platyspondyly, Rhizomelia, Elbow dislocation, Talipes equinovarus, Phalangeal dislocation, Omphal... |
ORPHA:85174 |
| Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome |
|
Short toe, Patellar hypoplasia, Hyperextensibility of the finger joints, Decreased testicular siz... |
ORPHA:3041 |
| Mosaic Trisomy 16 |
|
Short forearm, Clinodactyly, Ventricular septal defect, Single coronary artery origin, Atrial sep... |
ORPHA:1708 |
| Adams-Oliver Syndrome 4 |
|
Aplasia of the distal phalanges of the toes, Short toe, Umbilical hernia, Aplasia of the middle p... |
OMIM:615297 |
| Microphthalmia, Syndromic 12 |
|
Hypoplastic left atrium, Intestinal malrotation, Congenital diaphragmatic hernia, Ventricular sep... |
OMIM:615524 |
| Fanconi Anemia, Complementation Group O |
|
Absent thumb, Short thumb, Abnormal heart morphology, Stage 5 chronic kidney disease, Hydronephro... |
OMIM:613390 |
| Infantile Myofibromatosis |
|
Chondrocalcinosis, Abnormal thorax morphology, Intestinal obstruction, Abnormal intestine morphol... |
ORPHA:2591 |
| Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Broad long bones, Micrognathia, Cryptorchidism, Talipes equinovarus, Short neck, Hypoplastic isch... |
ORPHA:1865 |
| Platyspondylic Lethal Skeletal Dysplasia, Torrance Type |
|
Thin ribs, Radial bowing, Severe limb shortening, Short neck, Flat acetabular roof, Hypoplastic i... |
OMIM:151210 |
| Platyspondylic Dysplasia, Torrance Type |
|
Platyspondyly, Short distal phalanx of finger, Narrow chest, Hypoplastic scapulae, Metaphyseal cu... |
ORPHA:85166 |
| Ciliary Dyskinesia, Primary, 5 |
|
Respiratory insufficiency due to defective ciliary clearance, Situs inversus totalis, Ciliary dys... |
OMIM:608647 |
| Microphthalmia, Syndromic 9 |
|
Congenital diaphragmatic hernia, Ventricular septal defect, Atrial septal defect, Single ventricl... |
OMIM:601186 |
| Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Abnormal hand morphology, Mitral valve prolapse, Polycystic ovaries, Ventricular septal defect, B... |
ORPHA:371428 |
| Congenital Heart Defects, Multiple Types, 9 |
|
Hypoplastic left heart, Aortopulmonary collateral arteries, Unbalanced atrioventricular canal def... |
OMIM:620294 |
| Acropectoral Syndrome |
|
Abnormal thorax morphology, Finger syndactyly, Preaxial hand polydactyly |
ORPHA:85203 |
| Mosaic Trisomy 1 |
|
Hand clenching, Toe syndactyly, Broad 2nd toe, Congenital diaphragmatic hernia, Ventricular septa... |
ORPHA:1692 |
| Atrioventricular Septal Defect 5 |
|
Hypoplastic left heart, Atrioventricular canal defect, Muscular ventricular septal defect |
OMIM:614474 |
| Congenital Radioulnar Synostosis |
|
Congenital hip dislocation, Abnormality of the musculature of the upper arm, Polydactyly, Limited... |
ORPHA:3269 |
| Fanconi Anemia |
|
Aplasia/Hypoplasia of fingers, Toe syndactyly, Arteriovenous malformation, Finger syndactyly, Apl... |
ORPHA:84 |
| Atelosteogenesis Type Iii |
|
Hand clenching, Absent humerus, Elbow dislocation, Short tibia, Fibular aplasia, Micrognathia, Ta... |
ORPHA:56305 |
| Mckusick-Kaufman Syndrome |
|
Multicystic kidney dysplasia, Postaxial foot polydactyly, Finger syndactyly, Ventricular septal d... |
ORPHA:2473 |
| Kuskokwim Syndrome |
|
Aplasia/Hypoplasia of the radius, Abnormal clavicle morphology, Abnormal form of the vertebral bo... |
ORPHA:1149 |
| Penoscrotal Transposition |
|
Penoscrotal transposition, Pectus carinatum, Abnormality of the urethra, Cardiomyopathy, Abnormal... |
ORPHA:2842 |
| Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome |
|
Abnormal hand morphology, Short 5th metacarpal, Pseudocoarctation of the aorta, Bicuspid aortic v... |
ORPHA:228190 |
| Scholte Syndrome |
|
Small hand, Patellar hypoplasia, Decreased testicular size, Reduced subcutaneous adipose tissue, ... |
OMIM:300977 |
| Primary Pulmonary Hypoplasia |
|
Abnormal pulmonary artery morphology, Secundum atrial septal defect, Ureteral stenosis, Abnormal ... |
ORPHA:2257 |
| Focal Dermal Hypoplasia |
|
Multicystic kidney dysplasia, Toe syndactyly, Finger syndactyly, Congenital diaphragmatic hernia,... |
ORPHA:2092 |
| Hallux Varus And Preaxial Polysyndactyly |
|
Hallux varus, Syndactyly, Broad hallux, Preaxial hand polydactyly |
OMIM:234280 |
| Intellectual Developmental Disorder, Autosomal Recessive 73 |
|
Single transverse palmar crease, Ventricular septal defect, Pes planus, Clinodactyly of the 5th f... |
OMIM:619717 |
| Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities |
|
Unilateral wrist flexion contracture, Overlapping fingers, Micrognathia, Knee flexion contracture... |
OMIM:616531 |
| Cervical Ribs, Sprengel Anomaly, Anal Atresia, And Urethral Obstruction |
|
Urethral obstruction, Renal hypoplasia, Prune belly, Cervical ribs, Preaxial hand polydactyly, Ta... |
OMIM:601389 |
| Heterotaxy, Visceral, 10, Autosomal, With Male Infertility |
|
Abdominal situs inversus, Situs inversus totalis, Dextrocardia |
OMIM:619607 |
| Ivic Syndrome |
|
Carpal synostosis, Hypoplasia of deltoid muscle, Limited elbow movement, Carpal bone hypoplasia, ... |
OMIM:147750 |
| Leri-Weill Dyschondrosteosis |
|
Increased carrying angle, Abnormal femoral neck morphology, Radial bowing, Short tibia, Abnormal ... |
OMIM:127300 |
| Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
|
Radial bowing, Aplasia/Hypoplasia of the pubic bone, Fibular aplasia, Cryptorchidism, Barrel-shap... |
OMIM:276820 |
| Pericardial And Diaphragmatic Defect |
|
Meckel diverticulum, Abnormal heart morphology, Partial diaphragmatic absence of pericardium, Tet... |
ORPHA:2847 |
| Langer Mesomelic Dysplasia |
|
Increased carrying angle, Short tibia, Radial bowing, Rudimentary fibula, Rhizomelic arm shorteni... |
OMIM:249700 |
| Acromesomelic Dysplasia 3 |
|
Aplasia of the proximal phalanx of the 2nd finger, Elevated circulating luteinizing hormone level... |
OMIM:609441 |
| Absence Deformity Of Leg-Cataract Syndrome |
|
Anal atresia, Abnormal femur morphology, Abnormal epiphysis morphology, Lower limb undergrowth |
ORPHA:2310 |
| Pseudotrisomy 13 Syndrome |
|
Renal hypoplasia, Postaxial foot polydactyly, 11 pairs of ribs, Median cleft palate, Cryptorchidi... |
OMIM:264480 |
| Contractural Arachnodactyly, Congenital |
|
Aortic root aneurysm, Micrognathia, Hip contracture, Mitral valve prolapse, Ventricular septal de... |
OMIM:121050 |
| Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Talipes equinovarus, Micropenis, Anal atresia, Polycystic kidney dysplasia, Cone-shaped epiphysis... |
OMIM:613091 |
| Intellectual Disability-Spasticity-Ectrodactyly Syndrome |
|
Finger syndactyly, Abnormal hip bone morphology, Bilateral single transverse palmar creases, Clin... |
ORPHA:1891 |
| Achondrogenesis Type 2 |
|
Hypoplastic ilia, Narrow chest, Unossified sacrum, Micromelia, Absent vertebral body mineralizati... |
ORPHA:93296 |
| Trisomy 1Q |
|
Multicystic kidney dysplasia, Toe syndactyly, Microretrognathia, Short thorax, Camptodactyly of f... |
ORPHA:261344 |
| Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Aortic valve stenosis, Abnormal lung lobation, Hypertrophic cardiomyopathy, Femoral bowing, Situs... |
OMIM:615415 |
| Gillessen-Kaesbach-Nishimura Syndrome |
|
Abnormal lung lobation, Abnormal heart morphology, Micrognathia, Congenital diaphragmatic hernia,... |
OMIM:263210 |
| Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Short tibia, Micrognathia, Absent gallbladder, Short neck, Anal atresia, Tetralogy of Fallot, Ham... |
OMIM:617925 |
| Schisis Association |
|
Micromelia, Congenital diaphragmatic hernia, Tracheoesophageal fistula, Spina bifida, Omphalocele... |
ORPHA:63862 |
| 9Q33.3Q34.11 Microdeletion Syndrome |
|
Bilateral coxa valga, Patellar hypoplasia, Esophagitis, Cryptorchidism, Patellar aplasia, Single ... |
ORPHA:495818 |
| Truncus Arteriosus |
|
Abnormal coronary artery morphology, Ventricular septal defect, Pulmonary edema, Single coronary ... |
ORPHA:3384 |
| Ulnar/Fibula Ray Defect-Brachydactyly Syndrome |
|
Short 5th finger, Postaxial oligodactyly, Talipes equinovarus, Atrial septal defect, Brachydactyl... |
ORPHA:52056 |
| Meier-Gorlin Syndrome 3 |
|
Micrognathia, Cryptorchidism, Patellar aplasia, Aplasia/Hypoplasia of the patella, Talipes equino... |
OMIM:613803 |
| Acces Syndrome |
|
Ectrodactyly, Supernumerary nipple, Horseshoe kidney, Tracheoesophageal fistula, Hip dysplasia, C... |
OMIM:619959 |
| Hypoparathyroidism, Familial Isolated, 2 |
|
Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia |
OMIM:618883 |
| Distal 22Q11.2 Microdeletion Syndrome |
|
Toe syndactyly, Ankyloglossia, Ventricular septal defect, Arachnodactyly, Bowing of the long bone... |
ORPHA:261330 |
| Acromesomelic Dysplasia 2B |
|
Deformed tarsal bones, Rhizomelia, Deviation of finger, Talipes equinovalgus, Fibular aplasia, Ma... |
OMIM:228900 |
| Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Joint contracture of the hand, Small hand, Hypoplastic iliac wing, Cutaneous finger syndactyly, C... |
OMIM:235510 |
| Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age |
|
Clinodactyly of the 2nd finger, Genu valgum, Ventricular septal defect, Pes planus, Atrial septal... |
OMIM:618870 |
| Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies |
|
Short toe, Short finger, Short 5th metacarpal, Pseudocoarctation of the aorta, Bicuspid aortic va... |
OMIM:604381 |
| Dextrocardia |
|
Congenital hip dislocation, Meckel diverticulum, Pancreatic hypoplasia, Abnormal lung lobation, I... |
ORPHA:1666 |
| Eiken Syndrome |
|
Abnormal fingertip morphology, Epiphyseal dysplasia, Delayed epiphyseal ossification, Absence of ... |
ORPHA:79106 |
| Proximal 16P11.2 Microdeletion Syndrome |
|
Abnormal vertebral morphology, Multicystic kidney dysplasia, Gastroesophageal reflux, Abnormal he... |
ORPHA:261197 |
| Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Postaxial polysyndactyly of foot, Ventricular septal defect, Atrial septal defect, Polycystic kid... |
OMIM:263520 |
| Genitopatellar Syndrome |
|
Multicystic kidney dysplasia, Micrognathia, Cryptorchidism, Hip contracture, Ventricular septal d... |
OMIM:606170 |
| Attention Deficit-Hyperactivity Disorder |
|
Attention deficit hyperactivity disorder, Hyperactivity |
OMIM:143465 |
| Meier-Gorlin Syndrome 7 |
|
Cryptorchidism, Ventricular septal defect, Urethral stricture, Aplasia/Hypoplasia of the patella,... |
OMIM:617063 |
| Brachial Amelia, Cleft Lip, And Holoprosencephaly |
|
Foot oligodactyly, Amelia, Ventricular septal defect, Bilateral cleft palate, Omphalocele, Scolio... |
OMIM:601357 |
| Microcephaly, Short Stature, And Limb Abnormalities |
|
Patellar hypoplasia, 11 pairs of ribs, Patellar aplasia, Radioulnar synostosis, Brachydactyly, Hy... |
OMIM:617604 |
| Microphthalmia With Limb Anomalies |
|
Toe syndactyly, Postaxial foot polydactyly, Talipes equinovarus, Interrupted inferior vena cava w... |
OMIM:206920 |
| Xk Aprosencephaly Syndrome |
|
Abnormal morphology of the radius, Anal atresia, Atrial septal defect, Ventricular septal defect |
ORPHA:3469 |
| Renal Tubular Dysgenesis |
|
Nephropathy, Proximal tubulopathy, Tetralogy of Fallot, Multiple renal cysts, Pulmonary hypoplasia |
ORPHA:3033 |
| Campomelic Dysplasia |
|
Thin ribs, Delayed epiphyseal ossification, Hypoplastic scapulae, Hypoplastic cervical vertebrae,... |
OMIM:114290 |
| Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits |
|
Short distal phalanx of finger, Short thumb, Sandal gap, Broad hallux, Overlapping toe, Overlappi... |
OMIM:618167 |
| Partial Atrioventricular Septal Defect |
|
Aortic valve stenosis, Hypoplastic left heart, Bacterial endocarditis, Coronary sinus enlargement... |
ORPHA:1330 |
| Metatropic Dysplasia |
|
Narrow chest, Hypoplastic cervical vertebrae, Abnormal form of the vertebral bodies, Coarse metap... |
ORPHA:2635 |
| Acromesomelic Dysplasia 2A |
|
Acromesomelia, Short tibia, Aplasia/Hypoplasia involving the metacarpal bones, Distal tibiofibula... |
OMIM:200700 |
| Congenital Tracheal Stenosis |
|
Hypoplastic left heart, Meckel diverticulum, Duodenal atresia, Abnormal lung lobation, Abnormal s... |
ORPHA:141127 |
| Charge Syndrome |
|
Lymphopenia, Micrognathia, Cryptorchidism, Ventricular septal defect, Overriding aorta, Radial he... |
OMIM:214800 |
| Robinow Syndrome, Autosomal Dominant 3 |
|
Broad thumb, Clinodactyly, Micrognathia, Cryptorchidism, Ventricular septal defect, Short neck, P... |
OMIM:616894 |
| Chromosome 10Q26 Deletion Syndrome |
|
Toe syndactyly, Micrognathia, Cryptorchidism, Short neck, Atrial septal defect, High palate, Pate... |
OMIM:609625 |
| Chromosome 22Q11.2 Deletion Syndrome, Distal |
|
Cleft palate, Truncus arteriosus |
OMIM:611867 |
| 17Q23.1Q23.2 Microdeletion Syndrome |
|
Gastroesophageal reflux, Congenital contracture, Shallow acetabular fossae, Sandal gap, Patellar ... |
ORPHA:261279 |
| Chromosome 9P Deletion Syndrome |
|
Dermatoglyphic variants, Micrognathia, Ventricular septal defect, Short neck, Pes planus, Atrial ... |
OMIM:158170 |
| Brachytelephalangic Chondrodysplasia Punctata |
|
Abnormality of the costochondral junction, Tracheal calcification, Hypoplastic cervical vertebrae... |
ORPHA:79345 |
| Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Postaxial foot polydactyly, Overlapping fingers, Cryptorchidism, Ventricular septal defect, Talip... |
OMIM:301056 |
| Camptosynpolydactyly, Complex |
|
Camptodactyly, Syndactyly, Cutaneous syndactyly, Polydactyly |
OMIM:607539 |
| Congenital Unilateral Hypoplasia Of Depressor Anguli Oris |
|
Tetralogy of Fallot, Abnormal hip bone morphology, Micrognathia, Vesicoureteral reflux, Cryptorch... |
ORPHA:1166 |
| Ciliary Dyskinesia, Primary, 15 |
|
Situs inversus totalis, Ciliary dyskinesia |
OMIM:613808 |
| Cat-Eye Syndrome (Type I) |
|
Abnormal heart morphology, Anal atresia |
DECIPHER:42 |
| Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy |
|
Unbalanced atrioventricular canal defect, Dextrotransposition of the great arteries, Ventricular ... |
OMIM:619657 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2Ff |
|
Distal upper limb muscle weakness, Absent Achilles reflex, Distal upper limb amyotrophy, Weak gri... |
OMIM:619519 |
| Otopalatodigital Syndrome, Type I |
|
Toe syndactyly, Synostosis of carpal bones, Absent frontal sinuses, Short hallux, Dislocated radi... |
OMIM:311300 |
| Autosomal Recessive Multiple Pterygium Syndrome |
|
Finger syndactyly, Micrognathia, Cryptorchidism, Abnormal gastrointestinal tract morphology, High... |
ORPHA:2990 |
| Thakker-Donnai Syndrome |
|
Tetralogy of Fallot, Congenital diaphragmatic hernia, Ventricular septal defect, Hydronephrosis, ... |
ORPHA:1780 |
| Saul-Wilson Syndrome |
|
Hypoplasia of the odontoid process, Micrognathia, Talipes equinovarus, Neutropenia, Cone-shaped e... |
OMIM:618150 |
| Spondylometaphyseal Dysplasia With Corneal Dystrophy |
|
Narrow chest, Coarse metaphyseal trabecularization, Thoracic platyspondyly, Increased interverteb... |
OMIM:618961 |
| Diaphanospondylodysostosis |
|
Bell-shaped thorax, Micrognathia, Talipes equinovarus, Short neck, Lumbosacral meningocele, Delay... |
OMIM:608022 |
| Triphalangeal Thumb, Nonopposable |
|
Triphalangeal thumb, Polydactyly |
OMIM:190600 |
| Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome |
|
Pectus carinatum, Abnormal hip bone morphology, Tracheoesophageal fistula, Hyperlordosis, Abnorma... |
ORPHA:3068 |
| Thanatophoric Dysplasia, Type I |
|
Small abnormally formed scapulae, Platyspondyly, Narrow chest, Hypoplastic ilia, Thoracic hypopla... |
OMIM:187600 |
| Distal Duplication 15Q |
|
Camptodactyly of finger, Micrognathia, Cryptorchidism, Arachnodactyly, Short neck, Anal atresia, ... |
ORPHA:1707 |
| Codas Syndrome |
|
Hypoplasia of the odontoid process, Genu valgum, Cryptorchidism, Ventricular septal defect, Lumba... |
OMIM:600373 |
| Feingold Syndrome Type 1 |
|
Toe syndactyly, Multiple muscular ventricular septal defects, Anal atresia, Duodenal atresia, Pat... |
ORPHA:391641 |
| Vacterl With Hydrocephalus |
|
Absence of the sacrum, Abnormal form of the vertebral bodies, Micrognathia, Femoral hernia, Crypt... |
ORPHA:3412 |
| Prune Belly Syndrome |
|
Congenital hip dislocation, Pectus carinatum, Hydroureter, Xerostomia, Hydronephrosis, Talipes eq... |
OMIM:100100 |
| Double Outlet Right Ventricle |
|
Hypoplastic left heart, Tetralogy of Fallot, Intestinal malrotation, Submucous cleft hard palate,... |
ORPHA:3426 |
| Eng-Strom Syndrome |
|
Camptodactyly of finger, Ventricular septal defect, Brachydactyly, Abnormal cardiac septum morpho... |
ORPHA:1937 |
| Periventricular Nodular Heterotopia |
|
Gastroesophageal reflux, Patellar dislocation, Abnormal heart valve morphology, Hernia, Aortic an... |
ORPHA:98892 |
| Multiple Pterygium Syndrome, X-Linked |
|
Thin ribs, Joint dislocation, Short finger, Hypoplastic heart, Micrognathia, Multiple pterygia, V... |
OMIM:312150 |
| Catel-Manzke Syndrome |
|
Ulnar deviation of the 2nd finger, Micrognathia, Genu valgum, Cryptorchidism, Ventricular septal ... |
OMIM:616145 |
| Alg3-Cdg |
|
Cardiomyopathy, Metaphyseal chondrodysplasia, Abnormality of the gastrointestinal tract, Lipodyst... |
ORPHA:79321 |
| Total Anomalous Pulmonary Venous Return 1 |
|
Total anomalous pulmonary venous return, Dextrocardia |
OMIM:106700 |
| White Forelock With Malformations |
|
Aplasia/Hypoplasia of the distal phalanges of the toes, Bronchomalacia, Atrial septal defect, Pro... |
OMIM:277740 |
| Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Broad thumb, Thoracic hemivertebrae, Overlapping toe, Micrognathia, Ventricular septal defect, Bi... |
ORPHA:508498 |
| Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism |
|
Elevated circulating luteinizing hormone level, Dilated cardiomyopathy, Premature coronary artery... |
OMIM:300845 |
| Rubinstein-Taybi Syndrome 1 |
|
Broad thumb, Delayed cranial suture closure, Hypoplastic iliac wing, Micrognathia, Cryptorchidism... |
OMIM:180849 |
| Hadziselimovic Syndrome |
|
Ventricular hypertrophy, Renal hypoplasia, Tetralogy of Fallot, Ventricular septal defect, Anal a... |
OMIM:612946 |
| Roberts Syndrome |
|
Synostosis of carpal bones, Finger syndactyly, Micrognathia, Cryptorchidism, Patellar aplasia, Bi... |
ORPHA:3103 |
| Methylmalonic Aciduria And Homocystinuria, Cblf Type |
|
Homocystinuria, Methylmalonic aciduria, Cystathioninuria, Pancytopenia, Glossitis, Talipes equino... |
OMIM:277380 |
| Meacham Syndrome |
|
Ventricular septal defect, Bicuspid aortic valve, Atrial septal defect, Dextrocardia, Patent duct... |
OMIM:608978 |
| Trisomy 13 |
|
High, narrow palate, Narrow chest, Abnormal pelvic girdle bone morphology, Kyphosis, Ectrodactyly... |
ORPHA:3378 |
| Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect |
|
Ankle flexion contracture, Arthrogryposis multiplex congenita, Internally rotated shoulders, Elbo... |
OMIM:617468 |
| Mycophenolate Mofetil Embryopathy |
|
Bifid thoracic vertebrae, Tracheomalacia, Micrognathia, Congenital diaphragmatic hernia, Ventricu... |
ORPHA:268249 |
| 8p23.1 deletion syndrome |
|
Abnormal heart morphology, Atrial septal defect, Atrioventricular canal defect |
DECIPHER:39 |
| Ulbright-Hodes Syndrome |
|
Thin ribs, Fibular aplasia, Micrognathia, Cryptorchidism, Humeroradial synostosis, Talipes equino... |
ORPHA:3404 |
| Bardet-Biedl Syndrome 17 |
|
Postaxial foot polydactyly, Mesoaxial hand polydactyly, Stage 5 chronic kidney disease, Situs inv... |
OMIM:615994 |
| Velocardiofacial Syndrome |
|
Interrupted aortic arch, Right aortic arch with mirror image branching, Velopharyngeal insufficie... |
OMIM:192430 |
| 8Q24.3 Microdeletion Syndrome |
|
Ectopic posterior pituitary, Ventricular septal defect, Talipes, Short neck, Pes planus, Short ha... |
ORPHA:508488 |
| Epiphyseal Stippling-Osteoclastic Hyperplasia Syndrome |
|
Coarse metaphyseal trabecularization, Epiphyseal stippling, Bowing of the long bones, Genu varum,... |
ORPHA:1952 |
| Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull |
|
Toe syndactyly, Intestinal malrotation, Amelia, Congenital diaphragmatic hernia, Syndactyly, Omph... |
OMIM:601163 |
| Isolated Klippel-Feil Syndrome |
|
Abnormal shoulder morphology, Ventricular septal defect, Ectopic anus, Sprengel anomaly, Abnormal... |
ORPHA:2345 |
| Pallister-Hall-Like Syndrome |
|
Hip dislocation, Microglossia, Toe syndactyly, Postaxial foot polydactyly, Micromelia, Micrognath... |
OMIM:241800 |
| Ciliary Dyskinesia, Primary, 37 |
|
Situs inversus totalis, Right aortic arch, Dextrocardia |
OMIM:617577 |
| Heart Defects, Congenital, And Other Congenital Anomalies |
|
Total absence of the pericardium, Absent gallbladder, Congenital diaphragmatic hernia, Ventricula... |
OMIM:600001 |
| Cardioacrofacial Dysplasia 1 |
|
Atrioventricular canal defect, Complete atrioventricular canal defect |
OMIM:619142 |
| Crossed Polysyndactyly |
|
Aplasia/Hypoplasia of the thumb, Hypoplasia of penis, Finger syndactyly, Postaxial hand polydactyly |
ORPHA:2935 |
| Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly |
|
Coarctation of aorta, Subvalvular aortic stenosis, Complete atrioventricular canal defect |
OMIM:217085 |
| Brachydactyly Type A7 |
|
Broad distal phalanx of the thumb, Broad thumb, Broad phalanges of the 2nd toe, Sandal gap, Aplas... |
ORPHA:93397 |
| Acalvaria |
|
Abnormal lung lobation, Spina bifida, Omphalocele, Postaxial hand polydactyly, Cleft palate |
ORPHA:945 |
| Achondrogenesis, Type Ia |
|
Unossified vertebral bodies, Hypoplastic scapulae, Abnormal femoral metaphysis morphology, Severe... |
OMIM:200600 |
| Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome |
|
Pectus carinatum, Finger syndactyly, Radioulnar synostosis, Abnormal rib morphology, Clinodactyly... |
ORPHA:3268 |
| Tarp Syndrome |
|
Finger syndactyly, Extramedullary hematopoiesis, Clinodactyly, Micrognathia, Cryptorchidism, Tali... |
ORPHA:2886 |
| Thoracoabdominal Syndrome |
|
Congenital diaphragmatic hernia, Ventral hernia, Transposition of the great arteries, Ectopia cor... |
OMIM:313850 |
| Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Aortic valve stenosis, Broad thumb, Cryptorchidism, Ventricular septal defect, Bicuspid aortic va... |
ORPHA:353281 |
| B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Atlantoaxial dislocation, Aortic root aneurysm, Dysplasia of the femoral head, Micrognathia, Mitr... |
ORPHA:536467 |
| Structural Heart Defects And Renal Anomalies Syndrome |
|
Interrupted aortic arch, Tetralogy of Fallot, Overlapping toe, Right aortic arch, Renal insuffici... |
OMIM:617478 |
| Tonne-Kalscheuer Syndrome |
|
Broad thumb, Velopharyngeal insufficiency, Abnormal heart morphology, Decreased testicular size, ... |
OMIM:300978 |
| Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects |
|
Unilateral renal agenesis, Muscular ventricular septal defect, Butterfly vertebrae, Submucous cle... |
OMIM:619227 |
| Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Hypoplastic scapulae, Abnormality of the costochondral junction, Short tibia, Thumb contracture, ... |
ORPHA:96334 |
| Multiple Pterygium Syndrome, Lethal Type |
|
Thin ribs, Joint dislocation, Short finger, Hypoplastic heart, Micrognathia, Multiple pterygia, V... |
OMIM:253290 |
| 3C Syndrome |
|
Aortic valve stenosis, Finger syndactyly, Abnormal mitral valve morphology, Ventricular septal de... |
ORPHA:7 |
| Baller-Gerold Syndrome |
|
Abnormal vertebral morphology, Lambdoidal craniosynostosis, Carpal synostosis, Micrognathia, Pate... |
OMIM:218600 |
| Metaphyseal Chondrodysplasia, Schmid Type |
|
Abnormal vertebral morphology, Radial metaphyseal irregularity, Anterior rib cupping, Genu varum,... |
ORPHA:174 |
| Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome |
|
Bruxism, Large for gestational age, Aggressive behavior, Hyperactivity |
ORPHA:356996 |
| Rhombencephalosynapsis |
|
Finger syndactyly, Polydactyly, Aganglionic megacolon, Tracheoesophageal fistula, Esophageal atre... |
ORPHA:59315 |
| Spondylodysplastic Ehlers-Danlos Syndrome |
|
Abnormal vertebral morphology, Aortic valve stenosis, Prominent scalp veins, Subluxation of the s... |
ORPHA:536471 |
| Coxopodopatellar Syndrome |
|
Abnormal pelvic girdle bone morphology, Abnormal epiphysis morphology, Aplasia/Hypoplasia of the ... |
ORPHA:1509 |
| Spondylometaphyseal Dysplasia, Type A4 |
|
Platyspondyly, Pectus carinatum, Irregular patellae, Hypoplasia of the capital femoral epiphysis,... |
OMIM:609052 |
| Sifrim-Hitz-Weiss Syndrome |
|
Bifid uvula, Anteriorly placed anus, Tetralogy of Fallot, Vesicoureteral reflux, Renal insufficie... |
OMIM:617159 |
| Langer Mesomelic Dysplasia |
|
Ulnar deviation of finger, Abnormal epiphysis morphology, Micromelia, Mesomelic/rhizomelic limb s... |
ORPHA:2632 |
| Poland Syndrome |
|
Acute leukemia, Small hand, Ureterocele, Finger syndactyly, Aplasia/Hypoplasia of the sternum, Cr... |
ORPHA:2911 |
| 14Q11.2 Microdeletion Syndrome |
|
Toe clinodactyly, Toe syndactyly, Micrognathia, Ventricular septal defect, High palate, Patent du... |
ORPHA:261120 |
| Jeune Syndrome |
|
Nephropathy, Narrow chest, Nephronophthisis, Abnormal clavicle morphology, Toe syndactyly, Abnorm... |
ORPHA:474 |
| Pelvis-Shoulder Dysplasia |
|
Fifth finger distal phalanx clinodactyly, Bell-shaped thorax, Micrognathia, Talipes equinovarus, ... |
ORPHA:2839 |
| Thanatophoric Dysplasia Type 1 |
|
Platyspondyly, Hypoplastic ilia, Narrow chest, Kyphosis, Micromelia, Femoral bowing, Bowing of th... |
ORPHA:1860 |
| Pentasomy X |
|
Small hand, Camptodactyly of finger, Micrognathia, Radioulnar synostosis, Abnormal cardiac septum... |
ORPHA:11 |
| 3Mc Syndrome 1 |
|
Lambdoidal craniosynostosis, Coronal craniosynostosis, Short 5th finger, Caudal appendage, Supern... |
OMIM:257920 |
| Otopalatodigital Syndrome, Type Ii |
|
Toe syndactyly, Broad thumb, Radial bowing, Rudimentary fibula, Overlapping fingers, Micrognathia... |
OMIM:304120 |
| Diastrophic Dysplasia |
|
Laryngotracheal stenosis, Ulnar deviation of finger, Cervical kyphosis, Hypoplastic cervical vert... |
OMIM:222600 |
| Congenitally Uncorrected Transposition Of The Great Arteries |
|
Interrupted aortic arch, Abnormal aortic arch morphology, Abnormal coronary artery morphology, Bi... |
ORPHA:860 |
| Osebold-Remondini Syndrome |
|
Mesomelia, Short tibia, Short toe, Abnormality of the vertebral column, Type A brachydactyly, Rad... |
OMIM:112910 |
| Primary Ciliary Dyskinesia |
|
Atelectasis, Polysplenia, Abnormal inferior vena cava morphology, Intestinal malrotation, Pulmona... |
ORPHA:244 |
| Leg, Absence Deformity Of, With Congenital Cataract |
|
Anal atresia, Duplication involving bones of the feet |
OMIM:246000 |
| Odontochondrodysplasia |
|
Platyspondyly, Dentinogenesis imperfecta, Narrow chest, Cone-shaped epiphysis, Square pelvis bone... |
ORPHA:166272 |
| Phosphoribosylaminoimidazole Carboxylase Deficiency |
|
Lumbar hemivertebrae, Bilateral cryptorchidism, Missing ribs, Talipes equinovarus, Short neck, Tr... |
OMIM:619859 |
| Feingold Syndrome 1 |
|
Micrognathia, Ventricular septal defect, High palate, Duodenal atresia, Patent ductus arteriosus,... |
OMIM:164280 |
| 22Q11.2 Deletion Syndrome |
|
Micrognathia, Cryptorchidism, Ventricular septal defect, Arachnodactyly, Talipes equinovarus, Sho... |
ORPHA:567 |
| Ritscher-Schinzel Syndrome 2 |
|
Short distal phalanx of finger, Pulmonary artery hypoplasia, Prominent fingertip pads, Broad hall... |
OMIM:300963 |
| Campomelic Dysplasia |
|
Small abnormally formed scapulae, Narrow chest, Hip dislocation, Tracheomalacia, 11 pairs of ribs... |
ORPHA:140 |
| Anus, Imperforate |
|
Ectopic anus, Anal atresia, Hypospadias |
OMIM:301800 |
| Omodysplasia 2 |
|
Gastroesophageal reflux, Broad femoral neck, Short 1st metacarpal, Limited elbow flexion, Rhizome... |
OMIM:164745 |
| Vitamin D-Dependent Rickets, Type 3 |
|
Osteopenia, Hypophosphatemia, Hypocalcemia |
OMIM:619073 |
| Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome |
|
Finger aplasia, Short tibia, Foot oligodactyly, Fibular aplasia, Tibial bowing, Abnormality of th... |
OMIM:246570 |
| Fallot Complex-Intellectual Disability-Growth Delay Syndrome |
|
Clubbing of toes, Tetralogy of Fallot, Micrognathia, Cryptorchidism, Single transverse palmar cre... |
ORPHA:3304 |
| Cantu Syndrome |
|
Platyspondyly, Narrow chest, Congenital hypertrophy of left ventricle, Erlenmeyer flask deformity... |
OMIM:239850 |
| Baller-Gerold Syndrome |
|
Finger aplasia, Aplasia/Hypoplasia of the radius, Anteriorly placed anus, Abnormality of the uret... |
ORPHA:1225 |
| Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
Hypoplastic scapulae, Bowing of the long bones, High palate, Flat acetabular roof, Polycystic kid... |
OMIM:614091 |
| Greenberg Dysplasia |
|
Fractured rib, Postaxial foot polydactyly, Tracheal calcification, Supernumerary vertebral ossifi... |
OMIM:215140 |
| Diamond-Blackfan Anemia 6 |
|
Bifid uvula, Ventricular hypertrophy, Increased mean corpuscular volume, Tracheomalacia, Short th... |
OMIM:612561 |
| Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom |
|
Short 5th finger, Acromesomelia, Recurrent pneumonia, Umbilical hernia, Abnormal heart morphology... |
ORPHA:500159 |
| Metatropic Dysplasia |
|
Epiphyseal dysplasia, Hypoplasia of the odontoid process, Caudal appendage, Genu valgum, Flat ace... |
OMIM:156530 |
| Melnick-Needles Syndrome |
|
Hypoplastic scapulae, Delayed cranial suture closure, Micrognathia, Genu valgum, Anterior concavi... |
OMIM:309350 |
| Pseudoachondroplasia |
|
Delayed epiphyseal ossification, Hypoplasia of the odontoid process, Genu valgum, Wind-swept defo... |
ORPHA:750 |
| Ulnar-Mammary Syndrome |
|
Short distal phalanx of finger, Renal hypoplasia, Pectus carinatum, Abnormal clavicle morphology,... |
ORPHA:3138 |
| Tetrasomy 15Q26 |
|
Microretrognathia, Horseshoe kidney, Kyphoscoliosis, Syringomyelia, Hydronephrosis, Arachnodactyl... |
OMIM:614846 |
| Otoonychoperoneal Syndrome |
|
Ankle flexion contracture, Aplasia/Hypoplasia of the fibula, Hip contracture, Knee flexion contra... |
OMIM:259780 |
| Mesoaxial Hexadactyly And Cardiac Malformation |
|
Ventricular septal defect, Hand polydactyly, Atrial septal defect, Abnormal 3rd finger morphology... |
OMIM:249670 |
| Tetralogy Of Fallot |
|
Tetralogy of Fallot, Clinodactyly of the 5th finger |
OMIM:187500 |
| Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Broad thumb, Exaggerated median tongue furrow, Supernumerary nipple, Cryptorchidism, Congenital d... |
OMIM:312870 |
| Cat Eye Syndrome |
|
Micrognathia, Ventricular septal defect, Atrial septal defect, Rectal atresia, Absent radius, Ana... |
OMIM:115470 |
| 2P21 Microdeletion Syndrome |
|
Hypoglycemia, Hypocalcemia, Failure to thrive |
ORPHA:163693 |
| Acrorenal-Mandibular Syndrome |
|
Thin ribs, Hypoplastic scapulae, Toe syndactyly, Abnormal sacral segmentation, Rudimentary fibula... |
OMIM:200980 |
| Teebi Hypertelorism Syndrome 1 |
|
Coronal craniosynostosis, Small hand, Aortic root aneurysm, Micrognathia, Ventricular septal defe... |
OMIM:145420 |
| Laurin-Sandrow Syndrome |
|
Patellar aplasia, Broad foot, Hand polydactyly, Triphalangeal thumb, Absent tibia, Absent radius,... |
OMIM:135750 |
| Cat-Eye Syndrome |
|
Hydronephrosis, Anal atresia, Abnormal rib morphology, Hip dysplasia |
ORPHA:195 |
| Thanatophoric Dysplasia Type 2 |
|
Platyspondyly, Narrow chest, Kyphosis, Micromelia, Aplasia/Hypoplasia of the lungs, Atrial septal... |
ORPHA:93274 |
| Fibrochondrogenesis |
|
Narrow chest, Hypoplastic scapulae, Abnormal form of the vertebral bodies, Micromelia, Camptodact... |
ORPHA:2021 |
| Skraban-Deardorff Syndrome |
|
Pes cavus, Micrognathia, Right aortic arch, Ventricular septal defect, Cleft palate |
OMIM:617616 |
| Cardiac Diverticulum |
|
Aortic valve stenosis, Mitral valve prolapse, Ventricular septal defect, Bicuspid aortic valve, A... |
ORPHA:1686 |
| Phaver Syndrome |
|
Ulnar deviation of finger, Broad thumb, Abnormal form of the vertebral bodies, Short thumb, Campt... |
ORPHA:2876 |
| Ciliary Dyskinesia, Primary, 6 |
|
Abnormal ciliary motility, Ciliary dyskinesia |
OMIM:610852 |
| Caudal Regression Syndrome |
|
Abnormal pelvic girdle bone morphology, Aplasia/Hypoplasia of the sacrum, Abnormality of the uret... |
ORPHA:3027 |
| Pseudohypoparathyroidism Type 2 |
|
Hypocalcemic tetany, Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia |
ORPHA:94090 |
| Van Esch-O'Driscoll Syndrome |
|
Bifid uvula, Clinodactyly of the 5th finger, Ventricular septal defect, Pulmonary artery stenosis... |
OMIM:301030 |
| Townes-Brocks Syndrome 1 |
|
Multicystic kidney dysplasia, Broad thumb, Cryptorchidism, Pseudoepiphyses of second metacarpal, ... |
OMIM:107480 |
| Hypomagnesemia 1, Intestinal |
|
Hypocalcemia, Hypomagnesemia |
OMIM:602014 |
| Feingold Syndrome Type 2 |
|
Toe syndactyly, Short thumb, Ventricular septal defect, Jejunal atresia, Brachydactyly, Short mid... |
ORPHA:391646 |
| Orofaciodigital Syndrome X |
|
Finger aplasia, Preaxial hand polydactyly, Fibular aplasia, Coalescence of tarsal bones, Cleft pa... |
OMIM:165590 |
| Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Hepatomegaly, Hypocholesterolemia, Osteopenia, Splenomegaly |
OMIM:610539 |
| Congenitally Corrected Transposition Of The Great Arteries |
|
Atrial situs ambiguous, Ventricular septal defect, Discordant atrioventricular connection, Atrial... |
ORPHA:216694 |
| Meier-Gorlin Syndrome 5 |
|
Gastroesophageal reflux, Elbow dislocation, Clinodactyly, Slender long bone, Hypoplasia of the ca... |
OMIM:613805 |
| Penile Agenesis |
|
Hydroureter, Bilateral renal hypoplasia, Anorectal anomaly, Bilateral lung agenesis, Unilateral r... |
ORPHA:49 |
| Triploidy |
|
Narrow chest, Finger syndactyly, Intestinal malrotation, Micrognathia, Cryptorchidism, Short neck... |
ORPHA:3376 |
| Ciliary Dyskinesia, Primary, 46 |
|
Ciliary dyskinesia |
OMIM:619436 |
| 8P Inverted Duplication/Deletion Syndrome |
|
High, narrow palate, Small hypothenar eminence, Contractures of the large joints, Tetralogy of Fa... |
ORPHA:96092 |
| Meier-Gorlin Syndrome 6 |
|
Gastroesophageal reflux, Microretrognathia, Sandal gap, Umbilical hernia, Emphysema, Decreased re... |
OMIM:616835 |
| Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome |
|
Overlapping toe, Genu valgum, Carpal bone hypoplasia, Short neck, Beaking of vertebral bodies, Th... |
ORPHA:457395 |
| Feingold Syndrome 2 |
|
Short thumb, 3-4 toe syndactyly, Short middle phalanx of the 2nd finger, Ventricular septal defec... |
OMIM:614326 |
| Retinitis Pigmentosa 6 |
|
Immotile cilia |
OMIM:312612 |
| Lowe-Kohn-Cohen Syndrome |
|
Nephropathy, Anorectal anomaly, Anal atresia |
ORPHA:2408 |
| Fryns Syndrome |
|
Thin ribs, Joint contracture of the hand, Cryptorchidism, Ventricular septal defect, Short neck, ... |
OMIM:229850 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10 |
|
Neural tube defect |
OMIM:615041 |
| Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects |
|
Hypoplastic scapulae, Finger syndactyly, Micrognathia, Single ventricle, 2-5 finger syndactyly, T... |
OMIM:308050 |
| Cutis Laxa, Autosomal Recessive, Type Ic |
|
Micrognathia, Rectal prolapse, Multiple bladder diverticula, Gastroesophageal reflux, Tracheomala... |
OMIM:613177 |
| Bardet-Biedl Syndrome 19 |
|
Hypoplastic left heart, Renal hypoplasia, Postaxial foot polydactyly, Mesoaxial hand polydactyly,... |
OMIM:615996 |
| Jawad Syndrome |
|
Thoracic scoliosis, Postaxial polydactyly, Hallux valgus, 4-5 toe syndactyly, Single interphalang... |
OMIM:251255 |
| 8P23.1 Microdeletion Syndrome |
|
Broad thumb, Micrognathia, Cryptorchidism, Congenital diaphragmatic hernia, Short neck, Pes planu... |
ORPHA:251071 |
| Bardet-Biedl Syndrome 5 |
|
Micropenis, Syndactyly, Brachydactyly, Polydactyly |
OMIM:615983 |
| Hoxha-Aliu Syndrome |
|
Abnormal vertebral morphology, Overlapping toe, Broad foot, Absent fifth metatarsal, Atrial septa... |
OMIM:620662 |
| 3P25.3 Microdeletion Syndrome |
|
Broad thumb, Overlapping toe, Micrognathia, Ventricular septal defect, 2-3 finger syndactyly, Atr... |
ORPHA:435638 |
| Caudal Duplication |
|
Abnormal penis morphology, Intestinal duplication, Bifid sacrum, Vertebral segmentation defect, S... |
ORPHA:1756 |
| Pallister-Hall Syndrome |
|
Toe syndactyly, Postaxial foot polydactyly, Distal shortening of limbs, Ventricular septal defect... |
OMIM:146510 |
| Down Syndrome |
|
Shallow acetabular fossae, Clinodactyly, Hypoplastic iliac wing, Protruding tongue, Acute megakar... |
OMIM:190685 |
| Seckel Syndrome 1 |
|
Ivory epiphyses, Pancytopenia, Micrognathia, Cryptorchidism, Talipes, Pes planus, Dislocated radi... |
OMIM:210600 |
| Acromesomelic Dysplasia 2C |
|
Shortening of all middle phalanges of the fingers, Hip dislocation, Short tibia, Radial bowing, E... |
OMIM:201250 |
| Osteodysplasty, Precocious, Of Danks, Mayne, And Kozlowski |
|
Abnormal pelvic girdle bone morphology, Short toe, Short finger, Abnormal long bone morphology, R... |
OMIM:259270 |
| Noonan Syndrome 12 |
|
Anteriorly placed anus, Decreased response to growth hormone stimulation test, Lymphopenia, 11 pa... |
OMIM:618624 |
| Polydactyly, Postaxial, Type A5 |
|
Cutaneous finger syndactyly, Syndactyly, Metacarpal synostosis, Postaxial hand polydactyly |
OMIM:263450 |
| Fanconi Anemia, Complementation Group D2 |
|
Pancytopenia, Cryptorchidism, Neutropenia, Absent radius, Leukemia, Ectopic kidney, Patent ductus... |
OMIM:227646 |
| Marshall-Smith Syndrome |
|
Atlantoaxial dislocation, Hypoplasia of the odontoid process, Aspiration pneumonia, Cryptorchidis... |
OMIM:602535 |
| Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta |
|
Hypoplastic left heart, Abnormal aortic arch morphology, Arteria lusoria, Anomalous origin of rig... |
ORPHA:99050 |
| Achondroplasia |
|
Radial bowing, Narrow vertebral interpedicular distance, Genu varum, Thoracic hypoplasia, Femoral... |
OMIM:100800 |
| Spinal Muscular Atrophy With Congenital Bone Fractures 2 |
|
Patent foramen ovale, Dysphagia, Flexion contracture, Arthrogryposis multiplex congenita, Patent ... |
OMIM:616867 |
| Meier-Gorlin Syndrome 4 |
|
Genu recurvatum, Slender long bone, Emphysema, Breast hypoplasia, Micrognathia, Cryptorchidism, P... |
OMIM:613804 |
| Rapadilino Syndrome |
|
High, narrow palate, Aplasia/Hypoplasia of the radius, Joint dislocation, Absent thumb, Aplasia/H... |
OMIM:266280 |
| Diamond-Blackfan Anemia 7 |
|
Small hypothenar eminence, Increased mean corpuscular volume, Secundum atrial septal defect, Shor... |
OMIM:612562 |
| Nemaline Myopathy 9 |
|
Arthrogryposis multiplex congenita, Ventricular septal defect, High palate, Scoliosis, Cleft palate |
OMIM:615731 |
| Heart-Hand Syndrome, Slovenian Type |
|
Dilated cardiomyopathy, Clinodactyly, Aplasia of the middle phalanx of the hand, Brachydactyly, S... |
OMIM:610140 |
| Stuve-Wiedemann Syndrome 1 |
|
Thin ribs, Short tibia, Micrognathia, Metaphyseal rarefaction, Talipes, Bowing of the long bones,... |
OMIM:601559 |
| Microphthalmia With Limb Anomalies |
|
Synostosis of joints, Toe syndactyly, Postaxial foot polydactyly, Elbow dislocation, Synostosis o... |
ORPHA:1106 |
| Absence Of The Pulmonary Artery |
|
Recurrent pneumonia, Abnormal coronary artery morphology, Abnormal heart morphology, Tetralogy of... |
ORPHA:980 |
| Blomstrand Lethal Chondrodysplasia |
|
Platyspondyly, Broad clavicles, Narrow chest, Aplastic clavicle, Synostosis of joints, Rhizomelia... |
ORPHA:50945 |
| Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome |
|
Unilateral renal agenesis, Preaxial polydactyly, Crossed fused renal ectopia, Overlapping toe, Mi... |
OMIM:618142 |
| Ciliary Dyskinesia With Transposition Of Ciliary Microtubules |
|
Ciliary dyskinesia |
OMIM:215520 |
| Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly |
|
Narrow chest, Pulmonary hypoplasia, Thoracic dysplasia, Preaxial polydactyly, Acetabular spurs, F... |
OMIM:615503 |
| Polydactyly, Preaxial Iv |
|
Preaxial polydactyly, Dysplastic distal thumb phalanges with a central hole, Duplication of thumb... |
OMIM:174700 |
| Oculofaciocardiodental Syndrome |
|
Peripheral pulmonary artery stenosis, Short thumb, Intestinal malrotation, Genu valgum, Flexion c... |
ORPHA:2712 |
| Intellectual Developmental Disorder, Autosomal Recessive 33 |
|
Short toe, Syndactyly |
OMIM:614341 |
| Patent Ductus Arteriosus 2 |
|
Clinodactyly of the 5th finger, Patent ductus arteriosus |
OMIM:617035 |
| Chromosome 1Q41-Q42 Deletion Syndrome |
|
Sandal gap, Supernumerary nipple, Cryptorchidism, Congenital diaphragmatic hernia, Vertebral segm... |
OMIM:612530 |
| Femoral-Facial Syndrome |
|
Aplasia/Hypoplasia of the tibia, Micrognathia, Cryptorchidism, Talipes equinovarus, Radioulnar sy... |
ORPHA:1988 |
| Glycogen Storage Disease Vi |
|
Hypoglycemia, Failure to thrive in infancy, Hyperlipidemia, Hypercholesterolemia, Hypertriglyceri... |
OMIM:232700 |
| Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss |
|
Splenomegaly, Hypocalcemia, Elevated circulating gamma-aminobutyric acid concentration |
OMIM:619658 |
| Chylomicron Retention Disease |
|
Hypoalbuminemia, Hypotriglyceridemia, Failure to thrive, Hypocholesterolemia, Decreased LDL chole... |
OMIM:246700 |
| Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Aortic valve stenosis, Broad thumb, Micrognathia, Cryptorchidism, Ventricular septal defect, Bicu... |
ORPHA:353284 |
| Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Aortic valve stenosis, Broad thumb, Micrognathia, Cryptorchidism, Ventricular septal defect, Bicu... |
ORPHA:353277 |
| Ciliary Dyskinesia, Primary, 21 |
|
Ciliary dyskinesia |
OMIM:615294 |
| Distal Deletion 15Q |
|
Multicystic kidney dysplasia, Small hand, Micrognathia, Genu valgum, Cryptorchidism, Congenital d... |
ORPHA:1596 |
| Acheiropody |
|
Lower limb peromelia, Absent forearm, Short tibia, Absent radius, Fibular aplasia, Absent hand, C... |
OMIM:200500 |
| Fryns-Smeets-Thiry Syndrome |
|
Micrognathia, Patellar aplasia, Arachnodactyly, Scoliosis, Hip dislocation |
ORPHA:2058 |
| 3Q29 Microdeletion Syndrome |
|
Pectus carinatum, Gastroesophageal reflux, Horseshoe kidney, Clinodactyly of the 5th finger, Subv... |
ORPHA:65286 |
| Myopathy, Tubular Aggregate, 2 |
|
Hypocalcemia, Elevated circulating creatine kinase concentration |
OMIM:615883 |
| Osteogenesis Imperfecta |
|
Thin ribs, Aortic root aneurysm, Abnormal tibia morphology, Enlarged vertebral pedicles, Microgna... |
ORPHA:666 |
| Microcephaly With Chemotactic Defect And Transient Hypogammaglobulinemia |
|
Flexion contracture, Micrognathia, Scoliosis, Patellar hypoplasia |
OMIM:251240 |
| Floating-Harbor Syndrome |
|
Broad thumb, Atrial septal defect, Broad fingertip, Celiac disease, Dislocated radial head, Hypos... |
OMIM:136140 |
| Heterotaxy, Visceral, 5, Autosomal |
|
Ventricular septal defect, Bilateral trilobed lung, Atrial septal defect, Dextrocardia, Single ve... |
OMIM:270100 |
| Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development |
|
Aplasia/Hypoplasia of the radius, Absent thumb, Short tibia, Cryptorchidism, Fibular hypoplasia, ... |
OMIM:612447 |
| Developmental Delay With Or Without Dysmorphic Facies And Autism |
|
Supernumerary nipple, Micrognathia, Cryptorchidism, Congenital diaphragmatic hernia, Ventricular ... |
OMIM:618454 |
| Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome |
|
Aplasia/Hypoplasia of the tibia, Synostosis of carpal bones, Patellar aplasia, Aplasia/Hypoplasia... |
ORPHA:988 |
| Craniosynostosis With Fibular Aplasia |
|
Craniosynostosis, Fibular aplasia, Cryptorchidism, Single transverse palmar crease |
OMIM:218550 |
| Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome |
|
Slender finger, Gastroesophageal reflux, Broad thumb, Umbilical hernia, Clinodactyly of the 5th f... |
ORPHA:329224 |
| Charge Syndrome |
|
Abnormal tibia morphology, Cryptorchidism, Talipes, Dysphagia, Patent ductus arteriosus, Gastroes... |
ORPHA:138 |
| Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies |
|
Pectus carinatum, Congenital hip dislocation, Kyphosis, Dislocation of the femoral head, Cryptorc... |
OMIM:619797 |
| Fetal Trimethadione Syndrome |
|
Tetralogy of Fallot, Transposition of the great arteries, Atrial septal defect, Ventricular septa... |
ORPHA:1913 |
| Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
Aortic root aneurysm, Abnormality of connective tissue, Abdominal aortic aneurysm, Arachnodactyly... |
ORPHA:91387 |
| Lethal Congenital Contracture Syndrome 11 |
|
Microretrognathia, Elbow flexion contracture, Distal arthrogryposis, Flexion contracture of finge... |
OMIM:617194 |
| Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome |
|
Pectus carinatum, Bilateral single transverse palmar creases, Arachnodactyly, Aplasia/Hypoplasia ... |
ORPHA:1548 |
| Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Chronic kidney disease, Hypoplastic iliac wing, Foot polydactyly, Cone-shaped epiphyses of the ph... |
OMIM:208500 |
| Constricting Bands, Congenital |
|
Abnormal rib cage morphology, Abnormal lung lobation, Gastroschisis, Talipes equinovarus, Hand po... |
OMIM:217100 |
| Omphalocele-Cleft Palate Syndrome, Lethal |
|
Bifid uvula, Cleft palate, Omphalocele |
OMIM:258320 |
| Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome |
|
Radioulnar synostosis, Clinodactyly of the 5th finger, Finger syndactyly, Hip dysplasia |
ORPHA:71289 |
| Duane-Radial Ray Syndrome |
|
Ventricular septal defect, Aplasia of metacarpal bones, Atrial septal defect, Small thenar eminen... |
OMIM:607323 |
| Cardiac, Facial, And Digital Anomalies With Developmental Delay |
|
Aortic valve stenosis, Clinodactyly, Long hallux, Overlapping toe, Ventricular septal defect, Bic... |
OMIM:618164 |
| Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies |
|
High, narrow palate, Unilateral renal agenesis, Renal hypoplasia, Gastroesophageal reflux, Promin... |
OMIM:618494 |
| Orofaciodigital Syndrome Xvii |
|
High, narrow palate, Renal hypoplasia, Clinodactyly, Tetralogy of Fallot, Short middle phalanx of... |
OMIM:617926 |
| Vacterl Association With Hydrocephalus |
|
Renal hypoplasia, Absent thumb, Abnormal heart morphology, Radial club hand, Anal atresia |
OMIM:276950 |
| Holt-Oram Syndrome |
|
Hypoplastic scapulae, Short forearm, Radial bowing, Elbow dislocation, Cleft soft palate, Microgn... |
OMIM:142900 |
| Wahab Syndrome |
|
Short thumb, Clinodactyly, Adducted thumb, Camptodactyly, Short foot, Short metacarpal, Short pal... |
OMIM:615170 |
| Larsen-Like Osseous Dysplasia-Short Stature Syndrome |
|
Abnormal pelvic girdle bone morphology, Abnormal form of the vertebral bodies, Abnormal metacarpa... |
ORPHA:2370 |
| Chromosome 13Q33-Q34 Deletion Syndrome |
|
Overlapping toe, Micrognathia, Cryptorchidism, Talipes equinovarus, Small thenar eminence, Anal a... |
OMIM:619148 |
| Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome |
|
Hypoplastic left heart, Broad thumb, Intestinal malrotation, Micrognathia, Abnormal aortic morpho... |
ORPHA:2001 |
| Syndactyly Type 5 |
|
Short distal phalanx of finger, Ulnar deviation of finger, Camptodactyly of finger, 2-3 toe synda... |
ORPHA:93406 |
| Even-Plus Syndrome |
|
Epiphyseal dysplasia, Renal hypoplasia, Dysplasia of the femoral head, Vesicoureteral reflux, Pat... |
OMIM:616854 |
| Alg9-Cdg |
|
Delayed cranial suture closure, Micrognathia, Ventricular septal defect, Talipes equinovarus, Sho... |
ORPHA:79328 |
| Desbuquois Syndrome |
|
Genu recurvatum, Small hand, Elbow dislocation, Camptodactyly of finger, Bell-shaped thorax, Abno... |
ORPHA:1425 |
| Chromosome 15Q25 Deletion Syndrome |
|
Polysplenia, Coronary artery fistula, Cryptorchidism, Macrocytic anemia, Congenital diaphragmatic... |
OMIM:614294 |
| Alpha-Heavy Chain Disease |
|
Hepatomegaly, Splenomegaly, Hypocalcemia |
ORPHA:100025 |
| Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy |
|
Dilated cardiomyopathy, Hypomagnesemia, Hypocalcemia, Hypokalemia, Hyponatremia |
OMIM:620152 |
| Pseudohypoparathyroidism, Type Ii |
|
Hyperphosphatemia, Hypocalcemia |
OMIM:203330 |
| 1Q21.1 Microduplication Syndrome |
|
Hypospadias, Gastroesophageal reflux, Tetralogy of Fallot, Cryptorchidism, Talipes equinovarus, H... |
ORPHA:250994 |
| Acropectoral Syndrome |
|
Pectus carinatum, Preaxial polydactyly, Partial duplication of thumb phalanx, Triphalangeal thumb... |
OMIM:605967 |
| Cerebrocostomandibular Syndrome |
|
Bell-shaped thorax, Cleft soft palate, Micrognathia, Ventricular septal defect, Short hard palate... |
OMIM:117650 |
| Carpenter Syndrome |
|
Toe syndactyly, Broad thumb, Finger syndactyly, Polysplenia, Umbilical hernia, Preaxial foot poly... |
ORPHA:65759 |
| Ellis Van Creveld Syndrome |
|
Acute leukemia, Synostosis of carpal bones, Abnormality of the ureter, Genu valgum, Cryptorchidis... |
ORPHA:289 |
| Osteopathia Striata-Pigmentary Dermopathy-White Forelock Syndrome |
|
Abnormal pelvic girdle bone morphology, Coarse metaphyseal trabecularization, Abnormal diaphysis ... |
ORPHA:2779 |
| Postaxial Acrofacial Dysostosis |
|
Congenital hip dislocation, Supernumerary vertebrae, Short thumb, Supernumerary nipple, Abnormal ... |
OMIM:263750 |
| Ciliary Dyskinesia, Primary, 45 |
|
Immotile cilia |
OMIM:618801 |
| Williams Syndrome |
|
Synostosis of joints, Micrognathia, Genu valgum, Cryptorchidism, Mitral valve prolapse, Polycysti... |
ORPHA:904 |
| Distal Duplication 14Q |
|
Patent ductus arteriosus, Abnormal aortic morphology, Abnormal lung lobation |
ORPHA:1705 |
| Syndactyly Type 3 |
|
Short toe, Finger syndactyly, Camptodactyly of finger |
ORPHA:93404 |
| Schizophrenia 15 |
|
Hyperactivity |
OMIM:613950 |
| Lethal Congenital Contracture Syndrome Type 1 |
|
Slender long bone, Abnormal form of the vertebral bodies, Abnormal hip bone morphology, Micrognat... |
ORPHA:1486 |
| Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome |
|
Renal hypoplasia, Patellar hypoplasia, Abnormal conus terminalis morphology, Vesicoureteral reflu... |
ORPHA:464288 |
| Simpson-Golabi-Behmel Syndrome |
|
Multicystic kidney dysplasia, Toe syndactyly, Broad thumb, Finger syndactyly, Supernumerary nippl... |
ORPHA:373 |
| Frank-Ter Haar Syndrome |
|
Delayed cranial suture closure, Micrognathia, Anterior concavity of thoracic vertebrae, Mitral va... |
OMIM:249420 |
| Kapur-Toriello Syndrome |
|
Joint contracture of the hand, Short thumb, Camptodactyly of finger, Intestinal malrotation, Over... |
OMIM:244300 |
| Floating-Harbor Syndrome |
|
Clinodactyly, Atrial septal defect, Broad fingertip, Celiac disease, Dislocated radial head, Poly... |
ORPHA:2044 |
| Cloacal Exstrophy |
|
Hip dislocation, Hydroureter, Ureterocele, Intestinal duplication, Horseshoe kidney, Intestinal m... |
ORPHA:93929 |
| Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia |
|
Fibular aplasia, Brachydactyly, Short phalanx of finger, Aplasia/Hypoplasia of the fibula, Split ... |
OMIM:113310 |
| Autosomal Recessive Spondylocostal Dysostosis |
|
Finger syndactyly, Abnormality of the ureter, Cryptorchidism, Congenital diaphragmatic hernia, Sh... |
ORPHA:2311 |
| Acrofacial Dysostosis Syndrome Of Rodriguez |
|
Absent forearm, Short tibia, Clinodactyly, Oligodactyly, Overlapping toe, 11 pairs of ribs, Micro... |
OMIM:201170 |
| Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome |
|
Bilateral lung agenesis, Tracheal atresia, Coarctation of aorta, Abnormal cardiac septum morpholo... |
OMIM:601612 |
| Ear-Patella-Short Stature Syndrome |
|
High, narrow palate, Aplastic clavicle, Bifid uvula, Abnormal epiphysis morphology, Elbow disloca... |
ORPHA:2554 |
| Diastrophic Dysplasia |
|
Hypoplastic cervical vertebrae, Elbow dislocation, Micrognathia, Cryptorchidism, Bowing of the lo... |
ORPHA:628 |
| Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Congenital pulmonary airway malformation, Ileal atresia, Colonic atresia, Lymphopenia, Intestinal... |
OMIM:243150 |
| Serkal Syndrome |
|
Abnormal penis morphology, Malrotation of small bowel, Congenital diaphragmatic hernia, Ventricul... |
ORPHA:139466 |
| Distal 7Q11.23 Microdeletion Syndrome |
|
Atrial septal defect, Patent ductus arteriosus |
ORPHA:254351 |
| Miller-Dieker Syndrome |
|
Nephropathy, Clinodactyly of the 5th finger, Omphalocele, Sacral dimple |
ORPHA:531 |
| Brachydactyly-Mesomelia-Intellectual Disability-Heart Defects Syndrome |
|
Abnormal shoulder morphology, Micrognathia, Long thorax, Abnormal mitral valve morphology, Hernia... |
ORPHA:1277 |
| Contractures-Developmental Delay-Pierre Robin Syndrome |
|
High, narrow palate, Peripheral pulmonary artery stenosis, Short thumb, Overlapping toe, Microgna... |
ORPHA:436003 |
| Split-Hand/Foot Malformation With Long Bone Deficiency 1 |
|
Absent forearm, Patellar aplasia, Short hallux, Absent tibia, Split hand, Aplasia/Hypoplasia of t... |
OMIM:119100 |
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1 |
|
Abnormal ilium morphology, Anal stenosis, Gastroesophageal reflux, Short distal phalanx of finger... |
OMIM:614080 |
| Pmp22-Rai1 Contiguous Gene Duplication Syndrome |
|
Sandal gap, Abnormal foot morphology, Abnormal heart morphology, Decreased/absent ankle reflexes,... |
ORPHA:477817 |
| Viss Syndrome |
|
Iliac artery aneurysm, Aortic root aneurysm, Tortuous cerebral arteries, Recurrent joint dislocat... |
OMIM:619472 |
| Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphism |
|
Upper limb undergrowth, Thoracic hypoplasia, Pulmonary hypoplasia |
OMIM:613124 |
| Digeorge Syndrome |
|
Micrognathia, Intervertebral disk degeneration, Ovarian cyst, Ventricular septal defect, Patellar... |
OMIM:188400 |
| Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome |
|
Renal hypoplasia, Finger syndactyly, Aplasia of the proximal phalanges of the hand, Micrognathia,... |
ORPHA:2256 |
| Omodysplasia 1 |
|
Short tibia, Limited knee flexion/extension, Limited elbow flexion, Micrognathia, Cryptorchidism,... |
OMIM:258315 |
| Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
|
Thin ribs, Block vertebrae, Supernumerary vertebrae, Inguinal hernia, Short ribs, Hydronephrosis,... |
OMIM:271520 |
| Trisomy 18 |
|
Cryptorchidism, Congenital diaphragmatic hernia, Ventricular septal defect, Hernia, Bilateral sin... |
ORPHA:3380 |
| Cantú Syndrome |
|
Platyspondyly, Short distal phalanx of finger, Narrow chest, Finger syndactyly, Deep plantar crea... |
ORPHA:1517 |
| Schneckenbecken Dysplasia |
|
Hypoplastic ilia, Narrow chest, Hypoplastic scapulae, Abnormal form of the vertebral bodies, Micr... |
ORPHA:3144 |
| Aortic Valve Disease 1 |
|
Aortic valve stenosis, Aortic valve calcification, Tetralogy of Fallot, Mitral atresia, Mitral st... |
OMIM:109730 |
| Donnai-Barrow Syndrome |
|
Umbilical hernia, Intestinal malrotation, Congenital diaphragmatic hernia, Ventricular septal def... |
ORPHA:2143 |
| Whim Syndrome 2 |
|
Tetralogy of Fallot |
OMIM:619407 |
| Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome |
|
Asymmetry of the thorax, Aplasia/Hypoplasia of the phalanges of the toes, Abnormal pelvic girdle ... |
ORPHA:1112 |
| Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence |
|
Narrow chest, Tracheomalacia, Anteriorly placed anus, Cardiomyopathy, Clinodactyly, Proximal plac... |
OMIM:217980 |
| Ophthalmomandibulomelic Dysplasia |
|
Radioulnar dislocation, Lateral humeral condyle aplasia, Radial bowing, Elbow dislocation, Decrea... |
OMIM:164900 |
| Intellectual Developmental Disorder, X-Linked 112 |
|
Enuresis nocturna, Enuresis, Gastroesophageal reflux, Volvulus, Scoliosis, Horseshoe kidney, Abno... |
OMIM:301111 |
| Spondyloepimetaphyseal Dysplasia, Guo-Campeau Type |
|
Velopharyngeal insufficiency, Clinodactyly of the 2nd finger, Micrognathia, Ventricular septal de... |
OMIM:620663 |
| Loeys-Dietz Syndrome 2 |
|
Joint contracture of the hand, Aortic root aneurysm, Generalized arterial tortuosity, Micrognathi... |
OMIM:610168 |
| Smith-Lemli-Opitz Syndrome |
|
Multicystic kidney dysplasia, Postaxial foot polydactyly, Finger syndactyly, Talipes calcaneovalg... |
ORPHA:818 |
| Juvenile Polyposis Of Infancy |
|
Midclavicular hypoplasia, High, narrow palate, Intestinal bleeding, Gastrointestinal hemorrhage, ... |
ORPHA:79076 |
| Gm1 Gangliosidosis |
|
Aspiration pneumonia, Cherry red spot of the macula, Hepatosplenomegaly, Ventricular septal defec... |
ORPHA:354 |
| Renpenning Syndrome |
|
High, narrow palate, Abnormal thumb morphology, Sprengel anomaly, Pectus excavatum, Abnormal rib ... |
ORPHA:3242 |
| Hereditary Mucoepithelial Dysplasia |
|
Furrowed tongue, Anorectal anomaly, Hematuria, Tracheoesophageal fistula, Recurrent respiratory i... |
ORPHA:1839 |
| Meier-Gorlin Syndrome 2 |
|
Gastroesophageal reflux, Tracheomalacia, Slender long bone, Breast hypoplasia, Micrognathia, Pate... |
OMIM:613800 |
| Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type |
|
Hypoplasia of the odontoid process, Tracheal calcification, Broad long bones, Bell-shaped thorax,... |
OMIM:271665 |
| Rothmund-Thomson Syndrome Type 2 |
|
Aplastic anemia, Cryptorchidism, Patellar aplasia, Aplasia/hypoplasia involving bones of the uppe... |
ORPHA:221016 |
| Ciliary Dyskinesia, Primary, 11 |
|
Immotile cilia, Ciliary dyskinesia |
OMIM:612649 |
| Trigonocephaly 1 |
|
High, narrow palate, Lumbar hemivertebrae, Long penis, Meckel diverticulum, Omphalocele, Metopic ... |
OMIM:190440 |
| Chondrodysplasia, Blomstrand Type |
|
Abnormal vertebral morphology, Narrow chest, Micromelia, Flared metaphysis, Advanced tarsal ossif... |
OMIM:215045 |
| Autosomal Recessive Kenny-Caffey Syndrome |
|
Hypocalcemic tetany, Hypocalcemia, Decreased skull ossification, Calvarial osteosclerosis, Cortic... |
ORPHA:93324 |
| Kyphoscoliotic Ehlers-Danlos Syndrome |
|
Micrognathia, Arachnodactyly, Bicuspid aortic valve, Talipes equinovarus, Pes planus, Dextrocardi... |
ORPHA:536545 |
| Agnathia-Otocephaly Complex |
|
Microglossia, Secundum atrial septal defect, Tracheomalacia, Aglossia, Situs inversus totalis, Cl... |
OMIM:202650 |
| Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction |
|
Abnormal B cell morphology, Kyphosis, Decreased response to growth hormone stimulation test, Cont... |
OMIM:618223 |
| Pseudohypoparathyroidism, Type Ib |
|
Obesity, Hyperphosphatemia, Hypocalcemia |
OMIM:603233 |
| Acheiropodia |
|
Abnormal epiphysis morphology, Fibular aplasia, Absent hand, Short humerus, Upper limb phocomelia... |
ORPHA:931 |
| Spinal Muscular Atrophy With Impaired Intellectual Development |
|
Syndactyly |
OMIM:271109 |
| Faciocardiomelic Dysplasia, Lethal |
|
Short 5th finger, Microglossia, Radial deviation of the hand, Short thumb, Micrognathia, Single t... |
OMIM:227270 |
| Criss-Cross Heart |
|
Mitral stenosis, Abnormal mitral valve morphology, Ventricular septal defect, Transposition of th... |
ORPHA:1461 |
| Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly |
|
Narrow chest, Nephrocalcinosis, Thoracic dysplasia, Bell-shaped thorax, Horizontal ribs, Postaxia... |
OMIM:615633 |
| Bardet-Biedl Syndrome 14 |
|
Renal insufficiency, Polydactyly |
OMIM:615991 |
| Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland |
|
Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia, Hypomagnesemia |
ORPHA:2239 |
| Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly |
|
Narrow chest, Postaxial foot polydactyly, Acetabular spurs, Horizontal ribs, Short ribs, Brachyda... |
OMIM:617405 |
| Testicular Anomalies With Or Without Congenital Heart Disease |
|
Microphallus, Tetralogy of Fallot, Corpus cavernosum hypoplasia, Inguinal hernia, Perineal hyposp... |
OMIM:615542 |
| Ghosal Hematodiaphyseal Dysplasia |
|
Abnormal pelvic girdle bone morphology, Abnormal form of the vertebral bodies, Abnormal tibia mor... |
ORPHA:1802 |
| Acrofacial Dysostosis, RodrÃguez Type |
|
Finger aplasia, Abnormal pelvic girdle bone morphology, Microretrognathia, Aplasia/Hypoplasia of ... |
ORPHA:1788 |
| Split-Hand/Foot Malformation 1 |
|
Finger aplasia, Broad hallux, Ectrodactyly, Clinodactyly, Foot oligodactyly, Triphalangeal thumb,... |
OMIM:183600 |
| Mucolipidosis Type Iii |
|
Abnormal form of the vertebral bodies, Abnormal heart valve morphology, Abnormal hip bone morphol... |
ORPHA:577 |
| Thymic-Renal-Anal-Lung Dysplasia |
|
Ureteral agenesis, Anal atresia, Ureteral dysgenesis |
OMIM:274265 |
| Santos Syndrome |
|
Preaxial polydactyly, Oligodactyly, Genu valgum, Polydactyly, Postaxial polydactyly, Talipes equi... |
OMIM:613005 |
| 46,Xx Difference Of Sex Development-Anorectal Anomalies Syndrome |
|
Multicystic kidney dysplasia, Aplasia/Hypoplasia of the radius, Hydroureter, Abnormality of the u... |
ORPHA:2973 |
| Coenzyme Q10 Deficiency, Primary, 7 |
|
Hypoplastic left heart, Hypertrophic cardiomyopathy, Ventricular septal defect, Dysphagia, Scolio... |
OMIM:616276 |
| Yuan-Harel-Lupski Syndrome |
|
Aortic root aneurysm, Sandal gap, Talipes valgus, Talipes equinovalgus, Ventricular septal defect... |
OMIM:616652 |
| Cholesterol-Ester Transfer Protein Deficiency |
|
Hypotriglyceridemia, Increased HDL cholesterol concentration, Hyperlipidemia, Hyperlipoproteinemi... |
ORPHA:79506 |
| Chromosome 6Pter-P24 Deletion Syndrome |
|
Umbilical hernia, Tetralogy of Fallot, Clinodactyly of the 5th finger, Patent foramen ovale, Vent... |
OMIM:612582 |
| Pancreatic Lipase Deficiency |
|
Steatorrhea, Hypocholesterolemia |
OMIM:614338 |
| Marden-Walker Syndrome |
|
Multicystic kidney dysplasia, Micrognathia, Ventricular septal defect, Arachnodactyly, Talipes, A... |
ORPHA:2461 |
| 15Q24 Microdeletion Syndrome |
|
Hypospadias, Small hand, Clinodactyly, Microphallus, Abnormal heart morphology, Abnormal thumb mo... |
ORPHA:94065 |
| Acromesomelic Dysplasia, Grebe Type |
|
Synostosis of carpal bones, Short tibia, Micromelia, Short toe, Aplasia of the middle phalanges o... |
ORPHA:2098 |
| Coffin-Siris Syndrome 1 |
|
Cryptorchidism, Congenital diaphragmatic hernia, Ventricular septal defect, Aplasia/Hypoplasia of... |
OMIM:135900 |
| Axial Spondylometaphyseal Dysplasia |
|
Abnormal ilium morphology, Hypoplastic iliac wing, Abnormal metacarpal morphology, Flat acetabula... |
ORPHA:168549 |
| Ciliary Dyskinesia, Primary, 1 |
|
Immotile cilia, Situs inversus totalis, Ciliary dyskinesia |
OMIM:244400 |
| Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3 |
|
Syndactyly, Postaxial hand polydactyly |
OMIM:615938 |
| Spondylometaphyseal Dysplasia, Axial |
|
Platyspondyly, Narrow chest, Recurrent pneumonia, Rhizomelia, Thoracic hypoplasia, Short femoral ... |
OMIM:602271 |
| Boomerang Dysplasia |
|
Absent radius, Fibular aplasia, Hypoplastic iliac body |
OMIM:112310 |
| Potocki-Lupski Syndrome |
|
Failure to thrive, Oral-pharyngeal dysphagia, Hypocholesterolemia, Patent foramen ovale, Atrial s... |
OMIM:610883 |
| X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome |
|
Short middle phalanx of finger, Anal atresia, Brachydactyly |
ORPHA:1436 |
| Miller-Dieker Lissencephaly Syndrome |
|
Joint contracture of the hand, Sacral dimple, Abnormal heart morphology, Micrognathia, Cryptorchi... |
OMIM:247200 |
| Mucopolysaccharidosis, Type Iva |
|
Constricted iliac wing, Hypoplasia of the odontoid process, Genu valgum, Short neck, Anterior bea... |
OMIM:253000 |
| Spondyloepiphyseal Dysplasia, Nishimura Type |
|
Delayed epiphyseal ossification, Hyperphosphatemia, Hypocalcemia |
OMIM:618618 |
| Robinow Syndrome, Autosomal Recessive 2 |
|
Broad thumb, Clinodactyly, Prominent fingertip pads, Sandal gap, Broad hallux, Cleft soft palate,... |
OMIM:618529 |
| Syndactyly Type 4 |
|
Toe syndactyly, Short tibia, Camptodactyly of finger, Hand polydactyly, Triphalangeal thumb, Foot... |
ORPHA:93405 |
| Developmental And Epileptic Encephalopathy 66 |
|
Cryptorchidism, Ventricular septal defect, Atrial septal defect, Neutropenia, Dextrocardia, Anemi... |
OMIM:618067 |
| Zaki Syndrome |
|
Broad distal phalanx of finger, Toe syndactyly, Ectrodactyly, Micrognathia, Hypoplasia of the pha... |
OMIM:619648 |
| Gordon Syndrome |
|
Finger syndactyly, Camptodactyly of finger, Clinodactyly of the 5th finger, High palate, Pectus e... |
ORPHA:376 |
| Maternal Phenylketonuria |
|
Hypoplastic left heart, Clinodactyly, Tetralogy of Fallot, Abnormal heart morphology, Micrognathi... |
ORPHA:2209 |
| Mucopolysaccharidosis-Plus Syndrome |
|
Short neck, Atrial septal defect, Neutropenia, Nephrotic syndrome, Patent ductus arteriosus, Club... |
OMIM:617303 |
| Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Bell-shaped thorax, Micrognathia, Cryptorchidism, Protruding tongue, Ventricular septal defect, T... |
OMIM:214100 |
| Congenital Disorder Of Glycosylation, Type Ig |
|
Recurrent upper respiratory tract infections, Recurrent pneumonia, Rhizomelia, Short tibia, Sanda... |
OMIM:607143 |
| Bardet-Biedl Syndrome 10 |
|
Renal cyst, Renal insufficiency, Polydactyly |
OMIM:615987 |
| Microcephaly-Micromelia Syndrome |
|
Narrow chest, Absent thumb, Short tibia, Micromelia, Oligodactyly, Micrognathia, Humeroradial syn... |
OMIM:251230 |
| Tetralogy Of Fallot And Glaucoma |
|
Tetralogy of Fallot |
OMIM:187501 |
| Ciliary Dyskinesia With Defective Radial Spokes |
|
Immotile cilia, Ciliary dyskinesia |
OMIM:242670 |
| Kyphomelic Dysplasia |
|
Narrow chest, Abnormal form of the vertebral bodies, Micromelia, Micrognathia, Undulate ribs, Mis... |
ORPHA:1801 |
| Spondyloepimetaphyseal Dysplasia, Strudwick Type |
|
Platyspondyly, Pectus carinatum, Metaphyseal irregularity, Hypoplasia of the odontoid process, Cl... |
OMIM:184250 |
| Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction |
|
Interphalangeal thumb joint contracture, Ventricular septal defect, Aganglionic megacolon, Atrial... |
OMIM:613870 |
| Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Anisospondyly, Thoracic hypoplasia, Micromelia, Pterygium, Micrognathia, Cryptorchidism, Bowing o... |
OMIM:224410 |
| Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Abnormal vertebral morphology, Small hand, Aortic root aneurysm, Aspiration pneumonia, Micrognath... |
ORPHA:444077 |
| Renal Tubular Acidosis, Distal, 1 |
|
Hypokalemia, Elevated circulating creatinine concentration, Hypocalcemia, Osteomalacia |
OMIM:179800 |
| Vertebral Hypersegmentation And Orofacial Anomalies |
|
Supernumerary nipple, Micrognathia, Inguinal hernia, Submucous cleft hard palate, Supernumerary r... |
OMIM:619122 |
| Meacham Syndrome |
|
Aortic valve stenosis, Hypoplastic left heart, Tetralogy of Fallot, Conotruncal defect, Situs inv... |
ORPHA:3097 |
| Timothy Syndrome |
|
Hypoglycemia, Tetralogy of Fallot, Hypocalcemia, Patent foramen ovale, Ventricular septal defect,... |
OMIM:601005 |
| 1Q21.1 Microdeletion Syndrome |
|
Interrupted aortic arch, Toe syndactyly, Broad thumb, Ankyloglossia, Clinodactyly of the 5th fing... |
ORPHA:250989 |
| Ciliary Dyskinesia, Primary, 33 |
|
Ciliary dyskinesia |
OMIM:616726 |
| Amastia, Bilateral, With Ureteral Triplication And Dysmorphism |
|
Congenital hip dislocation, Absent nipple, Umbilical hernia, Ureteral triplication, Mitral valve ... |
OMIM:104350 |
| Larsen Syndrome |
|
Hypoplastic cervical vertebrae, Elbow dislocation, Cryptorchidism, Ventricular septal defect, Tal... |
OMIM:150250 |
| Tetralogy Of Fallot |
|
Tetralogy of Fallot, Clinodactyly of the 5th finger, Brachydactyly |
ORPHA:3303 |
| Acrocapitofemoral Dysplasia |
|
Pectus carinatum, Narrow chest, Cone-shaped metacarpal epiphyses, Abnormal femoral neck morpholog... |
ORPHA:63446 |
| Mesoaxial Synostotic Syndactyly With Phalangeal Reduction |
|
Toe syndactyly, Synostosis of carpal bones, Short thumb, Finger syndactyly, Aplasia/Hypoplasia of... |
ORPHA:157801 |
| Tetrasomy 9P |
|
Hypoplastic scapulae, Small hand, Micrognathia, Absent gallbladder, Cryptorchidism, Abnormal mitr... |
ORPHA:3310 |
| Lateral Meningocele Syndrome |
|
Micrognathia, Cryptorchidism, Ventricular septal defect, Bicuspid aortic valve, Short neck, High ... |
OMIM:130720 |
| Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Platyspondyly, Pectus carinatum, Synostosis of carpal bones, Abnormal epiphysis morphology, Micro... |
ORPHA:93351 |
| 2q33.1 deletion syndrome |
|
Short stature, High palate, Inguinal hernia, Cleft palate |
DECIPHER:51 |
| Megabladder, Congenital |
|
Left ventricular noncompaction cardiomyopathy, Stage 5 chronic kidney disease, Ventricular septal... |
OMIM:618719 |
| Chromosome 1P36 Deletion Syndrome, Proximal |
|
Dilated cardiomyopathy, Biventricular hypertrophy, Coronary artery fistula, Complete atrioventric... |
OMIM:619343 |
| Diaphragmatic Hernia 4, With Cardiovascular Defects |
|
Aortopulmonary collateral arteries, Pulmonary artery hypoplasia, Aortic root aneurysm, Finger syn... |
OMIM:620025 |
| Frontometaphyseal Dysplasia 2 |
|
Broad thumb, Cryptorchidism, Hip contracture, Bicuspid aortic valve, Talipes equinovarus, High pa... |
OMIM:617137 |
| Microcephalic Osteodysplastic Primordial Dwarfism Type Ii |
|
Abnormal epiphysis morphology, Abnormal cerebral vascular morphology, Micromelia, Narrow pelvis b... |
ORPHA:2637 |
| Phenobarbital Embryopathy |
|
Aplasia/Hypoplasia of fingers, Tetralogy of Fallot, Abnormal mitral valve morphology, Brachydacty... |
ORPHA:1919 |
| Distal Deletion 10P |
|
Bilateral single transverse palmar creases, Ectopic anus, Anal atresia, Clinodactyly of the 5th f... |
ORPHA:1580 |
| Fanconi Anemia, Complementation Group L |
|
Unilateral renal agenesis, Renal hypoplasia, Bone marrow hypocellularity, Absent thumb, Hypoplast... |
OMIM:614083 |
| Syndactyly, Mesoaxial Synostotic, With Phalangeal Reduction |
|
Aplasia/Hypoplasia of the middle phalanx of the 2nd finger, Aplasia/Hypoplasia of the hallux, Sym... |
OMIM:609432 |
| Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Homocystinuria, Gastroesophageal reflux, Methylmalonic aciduria, Bell-shaped thorax, Micrognathia... |
OMIM:614857 |
| Koolen-De Vries Syndrome |
|
Aortic root aneurysm, Cryptorchidism, Ventricular septal defect, Narrow palm, Bicuspid aortic val... |
OMIM:610443 |
| Verloove Vanhorick-Brubakk Syndrome |
|
Abnormal pelvic girdle bone morphology, Abnormality of the parathyroid gland, Abnormal form of th... |
ORPHA:3429 |
| Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Delayed epiphyseal ossification, Widened greater sciatic notch, Talipes equinovarus, Short neck, ... |
OMIM:250220 |
| Diabetic Embryopathy |
|
Spinal dysraphism, Tetralogy of Fallot, Micrognathia, Cryptorchidism, Abnormality of the pulmonar... |
ORPHA:1926 |
| Congenital Heart Defects And Skeletal Malformations Syndrome |
|
Aortic root aneurysm, Kyphosis, Sandal gap, Intestinal malrotation, Clinodactyly of the 5th finge... |
OMIM:617602 |
| Ciliary Dyskinesia, Primary, 34 |
|
Reduced respiratory ciliary beating frequency |
OMIM:617091 |
| Intellectual Developmental Disorder, Autosomal Dominant 66 |
|
Cerebral cavernous malformation, Secundum atrial septal defect, Aortic root aneurysm, Transpositi... |
OMIM:619910 |
| Cleft Palate, Cardiac Defects, And Impaired Intellectual Development |
|
Short 5th finger, Gastroesophageal reflux, Secundum atrial septal defect, Broad thumb, Sandal gap... |
OMIM:600987 |
| Craniofaciofrontodigital Syndrome |
|
Aortic valve stenosis, Ventricular septal defect, Hernia, Bicuspid aortic valve, Atrial septal de... |
ORPHA:363705 |
| Pfeiffer Syndrome Type 3 |
|
Small hand, Broad thumb, Toe syndactyly, Finger syndactyly, Tracheomalacia, Horseshoe kidney, Int... |
ORPHA:93260 |
| Chromosome 18Q Deletion Syndrome |
|
Aortic valve stenosis, Toe syndactyly, Overlapping toe, Cryptorchidism, Ventricular septal defect... |
OMIM:601808 |
| Congenital Disorder Of Glycosylation With Defective Fucosylation 1 |
|
Nephrocalcinosis, Hip dislocation, Kyphoscoliosis, Limb undergrowth, Atrial septal defect, Neutro... |
OMIM:618005 |
| Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis |
|
Micrognathia, Genu valgum, Hip contracture, Pes planus, Flattened epiphysis, Advanced ossificatio... |
OMIM:618363 |
| Split-Hand/Foot Malformation 4 |
|
Aplasia/Hypoplasia of the phalanges of the toes, Ectrodactyly, Aplasia/Hypoplasia involving the m... |
OMIM:605289 |
| Meckel Syndrome, Type 1 |
|
Postaxial foot polydactyly, Clinodactyly, Abnormality of the ureter, Micrognathia, Cryptorchidism... |
OMIM:249000 |
| Metaphyseal Dysplasia Without Hypotrichosis |
|
Abnormal pelvic girdle bone morphology, Metaphyseal cupping of metacarpals, Abnormality of the ve... |
OMIM:250460 |
| Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted |
|
Bifid uvula, Small hand, Hip dislocation, Lower limb asymmetry, Sacral dimple, Pes cavus, Hydrone... |
OMIM:300968 |
| Achondrogenesis Type 1B |
|
Narrow chest, Short thorax, Micromelia, Umbilical hernia, Micrognathia, Talipes equinovarus, Shor... |
ORPHA:93298 |
| Bartsocas-Papas Syndrome 1 |
|
Hypoplastic scapulae, Hypoplastic iliac wing, Micrognathia, Talipes equinovarus, Short neck, Infe... |
OMIM:263650 |
| Craniofacioskeletal Syndrome |
|
Small hand, Micrognathia, Absent gallbladder, Cryptorchidism, Barrel-shaped chest, Ventricular se... |
OMIM:300712 |
| Kallmann Syndrome-Heart Disease Syndrome |
|
Pulmonary artery hypoplasia, Dilated cardiomyopathy, Bilateral cryptorchidism, Anomalous origin o... |
ORPHA:2326 |
| Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome |
|
Unilateral renal agenesis, Velopharyngeal insufficiency, Abnormal heart morphology, Muscular vent... |
ORPHA:363444 |
| Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis |
|
Hypocholesterolemia, Decreased LDL cholesterol concentration, Failure to thrive, Decreased HDL ch... |
OMIM:616834 |
| Spinal Muscular Atrophy, Type I |
|
Recurrent respiratory infections, Atrial septal defect, Ventricular septal defect |
OMIM:253300 |
| Distal Deletion 10Q |
|
Clinodactyly, Micrognathia, Pes planus, Atrial septal defect, High palate, Anal atresia, Hip disl... |
ORPHA:96148 |
| Holoprosencephaly |
|
Abnormality of the spleen, Cryptorchidism, Congenital diaphragmatic hernia, Ventricular septal de... |
ORPHA:2162 |
| Acrocephalopolydactylous Dysplasia |
|
Micromelia, Polysplenia, Hypoplastic colon, Short neck, Pancreatic fibrosis, Omphalocele, Cranios... |
OMIM:200995 |
| Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type |
|
Platyspondyly, Squared iliac bones, Thoracic hypoplasia, Posterior rib cupping, Micromelia, Metap... |
OMIM:608728 |
| Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness |
|
Hypoplastic iliac wing, Beaking of vertebral bodies, Pes planus, Broad toe, Flat acetabular roof,... |
OMIM:609616 |
| 6P22 Microdeletion Syndrome |
|
Finger syndactyly, Clinodactyly, Hydronephrosis, Hernia, Short neck, Patent ductus arteriosus |
ORPHA:251046 |
| Mirror Movements 3 |
|
Situs inversus totalis |
OMIM:616059 |
| Atrial Septal Defect 4 |
|
Coarctation of aorta, Atrial septal defect, Patent foramen ovale |
OMIM:611363 |
| Intellectual Disability-Coarse Face-Macrocephaly-Cerebellar Hypotrophy Syndrome |
|
Pectus carinatum, Oligosacchariduria, Clinodactyly, Hepatosplenomegaly, Kyphoscoliosis, Talipes e... |
ORPHA:397709 |
| Mosaic Trisomy 14 |
|
Narrow chest, Lower limb asymmetry, Camptodactyly of finger, Micrognathia, Cryptorchidism, High p... |
ORPHA:1703 |
| Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia |
|
Ventricular septal defect, Ectopic anus, Aplasia/Hypoplasia of the distal phalanges of the hand, ... |
ORPHA:94066 |
| Pulmonary Atresia With Ventricular Septal Defect |
|
Pulmonary artery atresia, Ventricular septal defect |
OMIM:178370 |
| Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Broad thumb, Clinodactyly, Lymphopenia, Hepatosplenomegaly, Cryptorchidism, Neutropenia, Recurren... |
OMIM:612541 |
| Congenital Rubella Syndrome |
|
Splenomegaly, Abnormality of the pulmonary artery, Ventricular septal defect, Atrial septal defec... |
ORPHA:290 |
| Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome |
|
Hypoplastic left heart, Aplasia/Hypoplasia of the radius, Ventricular septal defect, Ectopic anus... |
ORPHA:2476 |
| Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome |
|
Pectus carinatum, Renal hypoplasia, Toe syndactyly, Umbilical hernia, Micrognathia, Cryptorchidis... |
ORPHA:171839 |
| Sirenomelia |
|
Sirenomelia, Tracheoesophageal fistula, Aplasia/Hypoplasia of the radius, Anal atresia |
ORPHA:3169 |
| Non-Syndromic Bilambdoid And Sagittal Craniosynostosis |
|
Umbilical hernia, Micrognathia, Short neck, Clinodactyly of the 5th finger, Craniosynostosis, Pat... |
ORPHA:1516 |
| Brachydactyly, Type A1, C |
|
Short distal phalanx of finger, Short 1st metacarpal, Short middle phalanx of the 2nd finger, Fib... |
OMIM:615072 |
| Mucopolysaccharidosis, Type Ivb |
|
Aortic valve stenosis, Constricted iliac wing, Hypoplasia of the odontoid process, Genu valgum, B... |
OMIM:253010 |
| Fetal Akinesia Deformation Sequence |
|
Arthrogryposis multiplex congenita, Camptodactyly of finger, Pterygium, Micrognathia, Cryptorchid... |
ORPHA:994 |
| Lethal Kniest-Like Dysplasia |
|
Platyspondyly, Hypoplastic ilia, Narrow chest, Flared metaphysis, Broad long bones, Mesomelic/rhi... |
ORPHA:2347 |
| Growth Retardation, Developmental Delay, And Facial Dysmorphism |
|
Bifid uvula, Umbilical hernia, Hypertrophic cardiomyopathy, Cryptorchidism, Protruding tongue, Ve... |
OMIM:612938 |
| Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly |
|
Kyphosis, Sandal gap, Micrognathia, Clinodactyly of the 5th finger, Single transverse palmar crea... |
OMIM:617061 |
| Global Developmental Delay With Or Without Impaired Intellectual Development |
|
Ventricular septal defect, Atrial septal defect, Pectus excavatum, Pulmonary sequestration, Hypos... |
OMIM:618330 |
| Chromosome 3Pter-P25 Deletion Syndrome |
|
Gastroesophageal reflux, Atrioventricular canal defect, Overlapping toe, Postaxial polydactyly, A... |
OMIM:613792 |
| ERI1-related disease |
|
Velopharyngeal insufficiency, Micrognathia, Ventricular septal defect, Pes planus, Patellar dislo... |
OMIM:608739 |
| Combined Oxidative Phosphorylation Deficiency 8 |
|
Hypertrophic cardiomyopathy, Cardiomegaly, Pulmonary hypoplasia |
OMIM:614096 |
| Hypochondroplasia |
|
Abnormal pelvic girdle bone morphology, Abnormal form of the vertebral bodies, Short toe, Spinal ... |
ORPHA:429 |
| Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly |
|
Renal hypoplasia, Microretrognathia, Ureteral agenesis, Single transverse palmar crease, 2-3 toe ... |
OMIM:236500 |
| Renal Agenesis, Bilateral |
|
Sirenomelia, Abnormal intestine morphology, Tracheoesophageal fistula, Abnormal sacrum morphology... |
ORPHA:1848 |
| Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome |
|
Lower limb asymmetry, Abnormal lung lobation, Abnormality of the wrist, Micrognathia, Abnormal fe... |
ORPHA:2063 |
| Autosomal Recessive Amelia |
|
Micrognathia, Amelia, Cryptorchidism, Acromelia of the lower limbs, Aplasia/Hypoplasia of the lun... |
ORPHA:1027 |
| Autosomal Recessive Robinow Syndrome |
|
Multicystic kidney dysplasia, Toe syndactyly, Synostosis of carpal bones, Elbow dislocation, Fing... |
ORPHA:1507 |
| Ciliary Dyskinesia, Primary, 53 |
|
Recurrent pneumonia, Polysplenia, Right aortic arch, Situs inversus totalis, Patent foramen ovale... |
OMIM:620642 |
| Short-Rib Thoracic Dysplasia 14 With Polydactyly |
|
Aplastic clavicle, Narrow chest, Micromelia, Preaxial polydactyly, Hamartoma of tongue, Congenita... |
OMIM:616546 |
| Pfeiffer Syndrome Type 2 |
|
Deviation of the thumb, Small hand, Broad thumb, Toe syndactyly, Finger syndactyly, Tracheomalaci... |
ORPHA:93259 |
| Pulmonary Atresia-Intact Ventricular Septum Syndrome |
|
Pulmonary artery atresia, Abnormal tricuspid valve morphology, Patent ductus arteriosus |
ORPHA:1208 |
| Spinal Muscular Atrophy With Congenital Bone Fractures 1 |
|
Microretrognathia, Arthrogryposis multiplex congenita, Secundum atrial septal defect, Cardiomyopa... |
OMIM:616866 |
| Distal Deletion 13Q |
|
Aplasia/Hypoplasia of the thumb, Abnormality of the hand, Abnormal metacarpal morphology, Abnorma... |
ORPHA:1590 |
| Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures |
|
Epiphyseal dysplasia, Radial bowing, Carpal synostosis, Micrognathia, Genu valgum, Ventricular se... |
OMIM:271640 |
| Grange Syndrome |
|
Arterial stenosis, Ventricular septal defect, Patent ductus arteriosus, Short palm, Syndactyly |
ORPHA:79094 |
| Dyggve-Melchior-Clausen Disease |
|
Hypoplastic scapulae, Hypoplasia of the odontoid process, Hypoplastic iliac wing, Genu valgum, Ba... |
OMIM:223800 |
| Blepharo-Cheilo-Odontic Syndrome |
|
Anal atresia, Finger syndactyly, Bilateral cleft palate |
ORPHA:1997 |
| Bardet-Biedl Syndrome 11 |
|
Polydactyly |
OMIM:615988 |
| Metaphyseal Chondrodysplasia, Schmid Type |
|
Broad middle phalanx of finger, Distal tibial bowing, Genu valgum, Genu varum, Irregular vertebra... |
OMIM:156500 |
| Dislocation Of The Hip-Dysmorphism Syndrome |
|
Congenital hip dislocation, Deviation of finger, Abnormal tricuspid valve morphology, Inguinal he... |
ORPHA:2412 |
| Mesomelic Dwarfism, Reinhardt-Pfeiffer Type |
|
Ulnar deviation of finger, Synostosis of carpal bones, Micromelia, Elbow dislocation, Abnormal ti... |
ORPHA:2634 |
| Intellectual Developmental Disorder, Autosomal Dominant 21 |
|
Cryptorchidism, Single transverse palmar crease, Coarctation of aorta, Atrial septal defect, Clef... |
OMIM:615502 |
| Chromosome 5Q12 Deletion Syndrome |
|
Micrognathia, Patent foramen ovale, Ventricular septal defect, Short neck, Long toe, Atrial septa... |
OMIM:615668 |
| Hyperinsulinemic Hypoglycemia, Familial, 8 |
|
Hypoglycemia, Hyperinsulinemia, Hyperammonemia, Attention deficit hyperactivity disorder, Hyperch... |
OMIM:620211 |
| Hypoparathyroidism, Familial Isolated, 1 |
|
Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia |
OMIM:146200 |
| Rothmund-Thomson Syndrome Type 1 |
|
Aplastic anemia, Patellar hypoplasia, Abnormal dental enamel morphology, Functional abnormality o... |
ORPHA:221008 |
| Neurodevelopmental Disorder With Dysmorphic Facies And Distal Skeletal Anomalies |
|
Cone-shaped epiphysis, Short toe, Broad hallux, Short finger, Micrognathia, Vesicoureteral reflux... |
OMIM:618659 |
| Dyskeratosis Congenita |
|
Bone marrow hypocellularity, Abnormality of neutrophils, Oral leukoplakia, Palmoplantar keratoder... |
ORPHA:1775 |
| Monosomy 18Q |
|
Aortic valve stenosis, Secondary growth hormone deficiency, Secundum atrial septal defect, Pulmon... |
ORPHA:1600 |
| Orofaciodigital Syndrome Xviii |
|
Short distal phalanx of finger, Sandal gap, Preaxial polydactyly, Cervical ribs, Genu valgum, Sin... |
OMIM:617927 |
| Ectrodactyly-Polydactyly Syndrome |
|
Finger syndactyly, Ectrodactyly, Camptodactyly of finger, Abnormal metacarpal morphology, Brachyd... |
ORPHA:1892 |
| Jacobsen Syndrome |
|
Aortic valve stenosis, Multicystic kidney dysplasia, Toe syndactyly, Finger syndactyly, Long hall... |
ORPHA:2308 |
| Hypothyroidism, Congenital, Nongoitrous, 6 |
|
Congenital hip dislocation, Wormian bones, Omphalocele, Anemia, Macroglossia |
OMIM:614450 |
| Achondrogenesis Type 1A |
|
Narrow chest, Micromelia, Umbilical hernia, Micrognathia, Multiple rib fractures, Short neck, Apl... |
ORPHA:93299 |
| Anus, Imperforate |
|
Anal atresia |
OMIM:207500 |
| Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome |
|
Anteriorly placed anus, Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Abnormal cardiac... |
ORPHA:1352 |
| Hyperphosphatasia With Impaired Intellectual Development Syndrome 2 |
|
Peripheral pulmonary artery stenosis, Anal stenosis, Broad hallux, Vesicoureteral reflux, Agangli... |
OMIM:614749 |
| Cranioacrofacial Syndrome |
|
Abnormal hand morphology, Dupuytren contracture, Pulmonic stenosis, Ventricular septal defect |
OMIM:122850 |
| Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
|
Delayed epiphyseal ossification, Rickets, Failure to thrive, Hypocalcemia, Sparse bone trabeculae... |
OMIM:600081 |
| Hypotonia-Cystinuria Syndrome |
|
Polyphagia, Neonatal hypoglycemia, Hypocalcemia, Failure to thrive |
OMIM:606407 |
| Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Enlarged metaphyses, Aortic root aneurysm, Micrognathia, Genu valgum, Congenital diaphragmatic he... |
OMIM:245600 |
| Thoracomelic Dysplasia |
|
Narrow chest, Abnormal pelvic girdle bone morphology, Elbow dislocation, Bell-shaped thorax, Genu... |
ORPHA:1803 |
| Fanconi Anemia, Complementation Group F |
|
Pneumonia, Bone marrow hypocellularity, Renal hypoplasia, Absent thumb, Short thumb, Microphallus... |
OMIM:603467 |
| Liebenberg Syndrome |
|
Elbow flexion contracture, Joint contracture of the 5th finger, Radially deviated wrists, 2-3 fin... |
OMIM:186550 |
| Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly |
|
Fragmentation of the metacarpal epiphyses, Abnormality of the ankle, Arthralgia of the hip, Abnor... |
ORPHA:166002 |
| Multiple Osteochondromas |
|
Rib exostoses, Abnormal tibia morphology, Abnormal hand morphology, Genu valgum, Intestinal obstr... |
ORPHA:321 |
| Hyperphosphatasia With Impaired Intellectual Development Syndrome 1 |
|
Short distal phalanx of finger, Short toe, Anteriorly placed anus, Abnormal heart morphology, Abn... |
OMIM:239300 |
| Joubert Syndrome 18 |
|
Horseshoe kidney, Trident pelvis, Kyphoscoliosis, Ventricular septal defect, Renal cyst, Talipes ... |
OMIM:614815 |
| Sweeney-Cox Syndrome |
|
Short distal phalanx of finger, Narrow chest, Gastroesophageal reflux, Velopharyngeal insufficien... |
OMIM:617746 |
| Trisomy 17P |
|
Aortic valve stenosis, Hypoplastic left heart, Scoliosis, Flexion contracture, Micrognathia, Clin... |
ORPHA:261290 |
| Cardiac Valvular Dysplasia 1 |
|
Left aortic arch with cervical origin of the right subclavian artery, Valvular pulmonary stenosis... |
OMIM:212093 |
| Brachydactyly, Type B1 |
|
Joint contracture of the hand, Broad thumb, Hypoplastic sacrum, Delayed cranial suture closure, A... |
OMIM:113000 |
| Schuurs-Hoeijmakers Syndrome |
|
Volvulus, Long foot, Cryptorchidism, Patent foramen ovale, Bicuspid aortic valve, Pes planus, Abn... |
OMIM:615009 |
| Rhizomelic Chondrodysplasia Punctata, Type 2 |
|
Abnormal pelvic girdle bone morphology, Rhizomelia, Tetralogy of Fallot, Flexion contracture, Sti... |
OMIM:222765 |
| Autism Spectrum Disorder Due To Auts2 Deficiency |
|
Joint contracture of the hand, Congenital contracture, Arthrogryposis multiplex congenita, Umbili... |
ORPHA:352490 |
| Endove Syndrome, Limb-Only Type |
|
Cutaneous syndactyly of toes, Aplasia of the distal phalanges of the toes, Umbilical hernia, Vesi... |
OMIM:619217 |
| Arthrogryposis, Perthes Disease, And Upward Gaze Palsy |
|
Overlapping toe, Avascular necrosis of the capital femoral epiphysis, Ventricular septal defect, ... |
OMIM:614262 |
| Cartilage-Hair Hypoplasia |
|
Small hand, Bowing of the long bones, Short neck, Neutropenia, Diaphyseal undertubulation, Metaph... |
ORPHA:175 |
| Spondyloepimetaphyseal Dysplasia, Krakow Type |
|
Rhizomelia, Annular pancreas, Elbow contracture, Ulnar deviation of the wrist, Irregular epiphyse... |
OMIM:618162 |
| Acrofacial Dysostosis 1, Nager Type |
|
Toe syndactyly, Velopharyngeal insufficiency, Clinodactyly, Overlapping toe, Micrognathia, Congen... |
OMIM:154400 |
| Nphp3-Related Meckel-Like Syndrome |
|
Intestinal malrotation, Multicystic kidney dysplasia, Pulmonary hypoplasia |
ORPHA:3032 |
| Dyggve-Melchior-Clausen Disease |
|
Epiphyseal dysplasia, Hypoplasia of the odontoid process, Genu valgum, Short neck, Beaking of ver... |
ORPHA:239 |
| 46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs |
|
Congenital pulmonary airway malformation, Bilateral lung agenesis, Congenital diaphragmatic herni... |
OMIM:611812 |
| Chromosome 2Q35 Duplication Syndrome |
|
2-3 toe syndactyly, Cutaneous syndactyly, Distal symphalangism of hands, 3-4 finger syndactyly |
OMIM:185900 |
| 15Q11Q13 Microduplication Syndrome |
|
Clinodactyly of the 5th finger, Finger syndactyly |
ORPHA:238446 |
| Cranioectodermal Dysplasia 1 |
|
Chronic kidney disease, Clinodactyly, Bicuspid aortic valve, Broad distal phalanges of all finger... |
OMIM:218330 |
| Holoprosencephaly-Radial Heart Renal Anomalies Syndrome |
|
Tetralogy of Fallot, Absent gallbladder, Foot polydactyly, Vertebral segmentation defect, Missing... |
ORPHA:3186 |
| Oeis Complex |
|
Cryptorchidism, Talipes equinovarus, Anal atresia, Rectovaginal fistula, Vesicovaginal fistula, E... |
OMIM:258040 |
| Tracheal Agenesis |
|
Tracheal atresia, Aplasia/Hypoplasia of the lungs, Abnormal cardiac septum morphology |
ORPHA:3346 |
| Anaplastic Thyroid Carcinoma |
|
Laryngotracheal stenosis, Goiter, Tracheoesophageal fistula, Lymphadenopathy, Nodular goiter, Dys... |
ORPHA:142 |
| Beta-Mercaptolactate Cysteine Disulfiduria |
|
Sandal gap, Micromelia, Umbilical hernia, Abnormality of the ureter, Genu valgum, Arachnodactyly,... |
ORPHA:1035 |
| Schneckenbecken Dysplasia |
|
Hypoplastic scapulae, Narrow vertebral interpedicular distance, Short neck, Anterior rib cupping,... |
OMIM:269250 |
| Mitochondrial Complex I Deficiency, Nuclear Type 35 |
|
Elevated urinary 4-hydroxybutyric acid, Lacticaciduria, Cardiomyopathy, Pulmonary hypoplasia |
OMIM:619003 |
| Holzgreve Syndrome |
|
Hypoplastic left heart, Renal hypoplasia, Hand polydactyly, Cleft palate |
OMIM:236110 |
| Ulna Metaphyseal Dysplasia Syndrome |
|
Hypercalcemia |
OMIM:191420 |
| Fibular Aplasia-Complex Brachydactyly Syndrome |
|
Abnormal epiphysis morphology, Synostosis of carpal bones, Micromelia, Abnormal tibia morphology,... |
ORPHA:2639 |
| Ventricular Septal Defect 3 |
|
Pulmonary artery stenosis, Patent ductus arteriosus, Atrial septal defect, Ventricular septal defect |
OMIM:614432 |
| Robin Sequence With Cleft Mandible And Limb Anomalies |
|
Short tibia, Micrognathia, Talipes equinovarus, Short hallux, Small thenar eminence, High palate,... |
OMIM:268305 |
| Kniest Dysplasia |
|
Delayed epiphyseal ossification, Hip contracture, Short neck, Lumbar kyphoscoliosis, Genu varum, ... |
OMIM:156550 |
| Patella Aplasia-Hypoplasia |
|
Patellar aplasia, Patellar hypoplasia |
OMIM:168860 |
| Tracheoesophageal Fistula With Or Without Esophageal Atresia |
|
Tracheoesophageal fistula, Esophageal atresia |
OMIM:189960 |
| Li-Ghorbani-Weisz-Hubshman Syndrome |
|
Overlapping toe, Ventricular septal defect, Atrial septal defect, Clinodactyly of the 5th finger,... |
OMIM:618974 |
| Hajdu-Cheney Syndrome |
|
Aortic valve stenosis, Micrognathia, Ventricular septal defect, Hernia, Absent frontal sinuses, S... |
ORPHA:955 |
| Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe |
|
Bifid sternum, Coarctation of aorta, Right aortic arch, Supraumbilical raphe |
OMIM:140850 |
| Fg Syndrome Type 1 |
|
Abnormal large intestine morphology, Gastroesophageal reflux, Finger syndactyly, Clinodactyly of ... |
ORPHA:93932 |
| Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations |
|
Peripheral pulmonary artery stenosis, Toe syndactyly, Valvular pulmonary stenosis, Hydroureter, 3... |
OMIM:300707 |
| Roifman Syndrome |
|
Recurrent pneumonia, Biconvex vertebral bodies, Short toe, Irregular femoral epiphysis, Splenomeg... |
OMIM:616651 |
| Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
|
Broad thumb, Overlapping toe, Micrognathia, Talipes, Bicuspid aortic valve, Short neck, Pes planu... |
OMIM:612474 |
| Omphalocele |
|
Omphalocele |
ORPHA:660 |
| Bardet-Biedl Syndrome 8 |
|
Postaxial polydactyly, Hypospadias, Situs inversus totalis |
OMIM:615985 |
| 22Q11.2 Duplication Syndrome |
|
Hypoplastic left heart, Interrupted aortic arch, Tetralogy of Fallot, Ventricular septal defect, ... |
ORPHA:1727 |
| Bile Acid Synthesis Defect, Congenital, 1 |
|
Rickets, Failure to thrive, Hypocholesterolemia, Splenomegaly, Hepatomegaly, Steatorrhea, Conjuga... |
OMIM:607765 |
| Okamoto Syndrome |
|
Aortic valve stenosis, Exaggerated median tongue furrow, Abnormal mitral valve morphology, Ventri... |
ORPHA:2729 |
| Bardet-Biedl Syndrome 13 |
|
Polydactyly |
OMIM:615990 |
| Chondrodysplasia With Joint Dislocations, Gpapp Type |
|
Coronal craniosynostosis, Capitate-hamate fusion, Short toe, Knee dislocation, Genu valgum, Micro... |
OMIM:614078 |
| Limb Body Wall Complex |
|
Progressive congenital scoliosis, Cutaneous finger syndactyly, Congenital diaphragmatic hernia, A... |
ORPHA:2369 |
| Eiken Syndrome |
|
Delayed epiphyseal ossification, Broad femoral neck, Clinodactyly, Broad ribs, Long hallux, Broad... |
OMIM:600002 |
| Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Increased circulating free fatty acid level, Dilated cardiomyopathy, Pericardial effusion, Obesit... |
ORPHA:26793 |
| Schinzel-Giedion Syndrome |
|
Abnormality of the ureter, Overlapping toe, Streak ovary, Micrognathia, Overlapping fingers, Radi... |
ORPHA:798 |
| Meckel Syndrome, Type 2 |
|
Intestinal malrotation, Polydactyly, Bowing of the long bones, Renal cyst, Omphalocele, Postaxial... |
OMIM:603194 |
| Carpenter Syndrome 2 |
|
Broad thumb, Supernumerary nipple, Cutaneous finger syndactyly, Cryptorchidism, Talipes equinovar... |
OMIM:614976 |
| Congenital Myopathy 22B, Severe Fetal |
|
Thin ribs, Micrognathia, Hip contracture, Talipes, Short neck, High palate, Spinal rigidity, Tape... |
OMIM:620369 |
| Ehlers-Danlos Syndrome, Classic-Like, 2 |
|
Cellulitis, Aortic root aneurysm, Micrognathia, Cryptorchidism, Mitral valve prolapse, Ventral he... |
OMIM:618000 |
| Juberg-Hayward Syndrome |
|
Toe syndactyly, Short thumb, Anteriorly placed anus, Horseshoe kidney, Abnormality of the wrist, ... |
ORPHA:2319 |
| Weaver Syndrome |
|
Joint contracture of the hand, Broad thumb, Clinodactyly, Hypoplastic iliac wing, Overlapping toe... |
OMIM:277590 |
| Peroxisome Biogenesis Disorder 3B |
|
Failure to thrive, Elevated circulating phytanic acid concentration, Hypocholesterolemia, Hepatom... |
OMIM:266510 |
| Feingold Syndrome |
|
Deviation of the 2nd finger, Toe syndactyly, Annular pancreas, Abnormal form of the vertebral bod... |
ORPHA:1305 |
| De Barsy Syndrome |
|
Congenital hip dislocation, Prominent veins on trunk, Umbilical hernia, Talipes calcaneovalgus, C... |
ORPHA:2962 |
| Hirschsprung Disease With Hypoplastic Nails And Dysmorphic Facial Features |
|
Hydronephrosis, Aganglionic megacolon, Anal atresia |
OMIM:235760 |
| Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation |
|
Umbilical hernia, Abnormal heart morphology, Diastasis recti, Ventricular septal defect, Omphalocele |
ORPHA:254534 |
| Restrictive Dermopathy |
|
Thin ribs, Structural foot deformity, Increased anterioposterior diameter of thorax, Micrognathia... |
ORPHA:1662 |
| Blue Diaper Syndrome |
|
Abnormal circulating tryptophan concentration, Hypercalcemia |
OMIM:211000 |
| Autoimmune Hypoparathyroidism |
|
Hyperphosphatemia, Hypocalcemic tetany, Hypocalcemia, Increased bone mineral density, Hypocalcemi... |
ORPHA:36913 |
| Cooper-Jabs Syndrome |
|
Anteriorly placed anus, Camptodactyly of finger, Umbilical hernia, Abnormal hip bone morphology, ... |
ORPHA:1488 |
| Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion |
|
Macroglossia, Thoracic hypoplasia, Umbilical hernia, Overlapping toe, Diastasis recti, Inguinal h... |
ORPHA:254528 |
| Autosomal Dominant Hypophosphatemic Rickets |
|
Hypophosphatemia, Rickets, Hypocalcemia, Osteomalacia |
ORPHA:89937 |
| Otospondylomegaepiphyseal Dysplasia |
|
Abnormal vertebral morphology, Epiphyseal dysplasia, Abnormal joint morphology, Micrognathia, Fib... |
ORPHA:1427 |
| Acropectorovertebral Dysplasia |
|
Broad thumb, Toe syndactyly, Short thumb, Synostosis of carpal bones, Finger syndactyly, Radial d... |
OMIM:102510 |
| Hajdu-Cheney Syndrome |
|
Micrognathia, Genu valgum, Cryptorchidism, Fibular bowing, Ventricular septal defect, Absent fron... |
OMIM:102500 |
| Congenital Disorder Of Glycosylation, Type Iil |
|
Unilateral renal agenesis, Inflammation of the large intestine, Proximal tubulopathy, Pancytopeni... |
OMIM:614576 |
| Deafness, Congenital Heart Defects, And Posterior Embryotoxon |
|
Tetralogy of Fallot, Peripheral pulmonary artery stenosis, Ventricular septal defect |
OMIM:617992 |
| Pagod Syndrome |
|
Hypoplastic left heart, Multicystic kidney dysplasia, Pulmonary artery hypoplasia, Abnormal clavi... |
ORPHA:991 |
| Gm1-Gangliosidosis, Type Ii |
|
Thoracolumbar kyphosis, Platyspondyly, Sea-blue histiocytosis, Splenomegaly, Protruding tongue, H... |
OMIM:230600 |
| Intellectual Developmental Disorder, X-Linked 109 |
|
Stereotypical body rocking, Recurrent hand flapping, Agitation, Aggressive behavior, Hyperactivit... |
OMIM:309548 |
| Fetal Minoxidil Syndrome |
|
Umbilical hernia, Micrognathia, Cryptorchidism, Ventricular septal defect, Clinodactyly of the 5t... |
ORPHA:1918 |
| Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome |
|
Abnormal sternum morphology, Supernumerary nipple, Broad ribs, Cryptorchidism, Short ribs, Ventri... |
ORPHA:2519 |
| Bent Bone Dysplasia Syndrome 2 |
|
Thin ribs, Platyspondyly, Hypoplastic acetabulae, Short 1st metacarpal, Short tibia, Hypoplastic ... |
OMIM:620076 |
| Short Rib-Polydactyly Syndrome, Verma-Naumoff Type |
|
Abnormal pelvis bone ossification, Micrognathia, Cryptorchidism, Anal atresia, Short foot, Preaxi... |
ORPHA:93271 |
| Pseudohypoparathyroidism Type 1B |
|
Hyperphosphatemia, Hypocalcemic tetany, Increased bone density with cystic changes, Hypocalcemia,... |
ORPHA:94089 |
| 20Q13.33 Microdeletion Syndrome |
|
Hematochezia, Abnormal cardiac ventricle morphology, Dilation of Virchow-Robin spaces, Talipes eq... |
ORPHA:261311 |
| Loeys-Dietz Syndrome 1 |
|
Aortic root aneurysm, Micrognathia, Mitral valve prolapse, Arachnodactyly, Eosinophilic infiltrat... |
OMIM:609192 |
| Tetrasomy 5P |
|
Overlapping toe, Micrognathia, Clinodactyly of the 5th finger, Pericallosal lipoma, Talipes equin... |
ORPHA:3309 |
| Hyperparathyroidism, Transient Neonatal |
|
Thin ribs, Unilateral renal agenesis, Fractured rib, Narrow chest, Hyperparathyroidism, Gastroeso... |
OMIM:618188 |
| Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1 |
|
Short toe, Sandal gap, Short 5th metacarpal, 11 pairs of ribs, Clinodactyly of the 5th finger, Sp... |
OMIM:617877 |
| Hyperphosphatasia With Impaired Intellectual Development Syndrome 6 |
|
Toe syndactyly, Elbow flexion contracture, Inguinal hernia, Hip contracture, Knee flexion contrac... |
OMIM:616809 |
| Weismann-Netter Syndrome |
|
Aplasia/Hypoplasia of the radius, Abnormal form of the vertebral bodies, Abnormal tibia morpholog... |
ORPHA:3344 |
| Joubert Syndrome With Ocular Defect |
|
Abnormal vertebral morphology, Aganglionic megacolon, Hand polydactyly, Dextrocardia, Foot polyda... |
ORPHA:220493 |
| Mesomelic Dysplasia, Kantaputra Type |
|
Ulnar deviation of finger, Abnormality of the ankle, Synostosis of carpal bones, Camptodactyly of... |
ORPHA:1836 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type |
|
Pectus carinatum, Aortic root aneurysm, Cryptorchidism, Ventricular septal defect, Arachnodactyly... |
OMIM:301039 |
| Autosomal Dominant Coarctation Of Aorta |
|
Hypoplastic left heart, Abnormal aortic arch morphology, Aortic arch aneurysm, Ventricular septal... |
ORPHA:1455 |
| Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome |
|
Ciliary dyskinesia |
ORPHA:1882 |
| Holoprosencephaly-Postaxial Polydactyly Syndrome |
|
Hypospadias, Abnormal lung lobation, Intestinal malrotation, Umbilical hernia, Micrognathia, Cryp... |
ORPHA:2166 |
| Hypocalcemic Vitamin D-Resistant Rickets |
|
Coarse metaphyseal trabecularization, Osteomalacia, Hypocalcemia, Hypophosphatemia, Bone cyst, Os... |
ORPHA:93160 |
| Microphthalmia, Syndromic 2 |
|
Aortic valve stenosis, Hand clenching, Cryptorchidism, Mitral valve prolapse, Contracture of the ... |
OMIM:300166 |
| Donnai-Barrow Syndrome |
|
Umbilical hernia, Intestinal malrotation, Congenital diaphragmatic hernia, Ventricular septal def... |
OMIM:222448 |
| Atelosteogenesis, Type Iii |
|
Rhizomelia, Cervical kyphosis, Tombstone-shaped proximal phalanges, Radial bowing, Elbow dislocat... |
OMIM:108721 |
| Non-Syndromic Posterior Hypospadias |
|
Urethral diverticulum, Congenital diaphragmatic hernia, Displacement of the urethral meatus, Esop... |
ORPHA:95706 |
| Fraxe Intellectual Disability |
|
Stereotypical body rocking, Recurrent hand flapping, Impulsivity, Aggressive behavior, Hyperactiv... |
ORPHA:100973 |
| Acrocapitofemoral Dysplasia |
|
Radial bowing, Short tibia, Hypoplastic iliac wing, Dysplasia of the femoral head, Cone-shaped ep... |
OMIM:607778 |
| Hypocalcemia, Autosomal Dominant 1 |
|
Hyperphosphatemia, Hypomagnesemia, Hypocalcemia, Hypokalemia, Increased circulating renin level |
OMIM:601198 |
| Dubowitz Syndrome |
|
Small hand, Toe syndactyly, Broad thumb, Delayed cranial suture closure, Micrognathia, Cryptorchi... |
ORPHA:235 |
| Smith-Magenis syndrome |
|
Motor stereotypy, Hyperactivity, Self-mutilation |
DECIPHER:8 |
| Chops Syndrome |
|
High, narrow palate, Gastroesophageal reflux, Tracheomalacia, Aspiration pneumonia, Horseshoe kid... |
OMIM:616368 |
| Blepharocheilodontic Syndrome 1 |
|
Anal atresia, Cutaneous syndactyly, Clinodactyly |
OMIM:119580 |
| Tatton-Brown-Rahman Syndrome |
|
Aortic root aneurysm, Short toe, Widely spaced toes, Umbilical hernia, Cryptorchidism, Kyphoscoli... |
ORPHA:404443 |
| Cardiac-Valvular Ehlers-Danlos Syndrome |
|
Aortic root aneurysm, Genu valgum, Mitral valve prolapse, Pes planus, Thoracolumbar scoliosis, At... |
ORPHA:230851 |
| Blepharophimosis-Impaired Intellectual Development Syndrome |
|
Hypospadias, Recurrent pneumonia, Gastroesophageal reflux, Short distal phalanx of finger, Recurr... |
OMIM:619293 |
| Wiedemann-Steiner Syndrome |
|
Short 5th finger, Small hand, Short toe, Short middle phalanx of finger, Long hallux, Contracture... |
OMIM:605130 |
| Severe Congenital Nemaline Myopathy |
|
Thin ribs, Arthrogryposis multiplex congenita, Abnormal thorax morphology, Increased connective t... |
ORPHA:171430 |
| Periventricular Nodular Heterotopia 1 |
|
Clinodactyly, Short finger, Stroke, Bicuspid aortic valve, Cerebral hemorrhage, Patent ductus art... |
OMIM:300049 |
| Distal Duplication 5Q |
|
Absent thumb, Micrognathia, Cryptorchidism, Ventricular septal defect, Hernia, Aplasia/Hypoplasia... |
ORPHA:96097 |
| Mucopolysaccharidosis Type 6 |
|
Epiphyseal dysplasia, Recurrent upper respiratory tract infections, Abnormal heart valve morpholo... |
ORPHA:583 |
| Congenital Disorder Of Glycosylation, Type Ih |
|
Protein-losing enteropathy, Cryptorchidism, Talipes equinovarus, Short neck, Camptodactyly, Perim... |
OMIM:608104 |
| Pseudoachondroplasia |
|
Delayed epiphyseal ossification, Atlantoaxial dislocation, Hypoplasia of the odontoid process, Ra... |
OMIM:177170 |
| Ectodermal Dysplasia, Hypohidrotic, With Hypothyroidism And Ciliary Dyskinesia |
|
Ciliary dyskinesia |
OMIM:225050 |
| Loeys-Dietz Syndrome 3 |
|
Ventricular hypertrophy, Tortuous cerebral arteries, Abdominal aortic aneurysm, Intervertebral di... |
OMIM:613795 |
| Neuralgic Amyotrophy |
|
Bifid uvula, Sprengel anomaly, Syndactyly, Scapular winging, Cleft palate, Upper limb amyotrophy |
ORPHA:2901 |
| Myoectodermal Gonadal Dysgenesis Syndrome |
|
Accessory spleen, Unilateral renal agenesis, Elevated circulating luteinizing hormone level, Bifi... |
OMIM:618419 |
| Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1 |
|
Supernumerary nipple, Overlapping toe, Micrognathia, Talipes equinovarus, Short neck, Sprengel an... |
OMIM:213980 |
| Blue Diaper Syndrome |
|
Increased proinsulin:insulin ratio, Hyperphosphatemia, Recurrent hypoglycemia, Increased body wei... |
ORPHA:94086 |
| Congenital Disorder Of Glycosylation, Type Ie |
|
High, narrow palate, Ankle flexion contracture, Small hand, Upper limb undergrowth, Micrognathia,... |
OMIM:608799 |
| Microphthalmia-Microtia-Fetal Akinesia Syndrome |
|
Hydroureter, Camptodactyly of finger, Duodenal stenosis, Micrognathia, Hypoplasia of penis, Paten... |
ORPHA:2547 |
| 8P23.1 Duplication Syndrome |
|
Toe syndactyly, Tetralogy of Fallot, Ventricular septal defect, Hydronephrosis, Pulmonic stenosis |
ORPHA:251076 |
| Kinsship Syndrome |
|
Mesomelia, Renal hypoplasia, Gastroesophageal reflux, Cervical ribs, Horseshoe kidney, Ankyloglos... |
OMIM:619297 |
| Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Delayed epiphyseal ossification, Narrow chest, Metaphyseal cupping, Micromelia, Dysplastic sacrum... |
OMIM:613320 |
| Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Abnormal vertebral morphology, Delayed epiphyseal ossification, Premature osteoarthritis, Hepatos... |
ORPHA:93352 |
| Gastrointestinal Defects And Immunodeficiency Syndrome 2 |
|
Inflammation of the large intestine, Interstitial emphysema, Kyphosis, Lymphopenia, Overlapping f... |
OMIM:619708 |
| Lujan-Fryns Syndrome |
|
Camptodactyly of finger, Micrognathia, Arachnodactyly, Atrial septal defect, Brachydactyly, High ... |
ORPHA:776 |
| Pelger-Huet Anomaly |
|
Giant platelets, Short 3rd metacarpal, Umbilical hernia, Upper limb undergrowth, Short 5th metaca... |
OMIM:169400 |
| Smith-Lemli-Opitz Syndrome |
|
Postaxial foot polydactyly, Talipes calcaneovalgus, Overlapping toe, Micrognathia, Cryptorchidism... |
OMIM:270400 |
| Loeys-Dietz Syndrome 5 |
|
Aortic root aneurysm, Cleft soft palate, Reduced subcutaneous adipose tissue, Ventricular septal ... |
OMIM:615582 |
| Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome |
|
Increased urine alpha-ketoglutarate concentration, Short 5th finger, Short distal phalanx of fing... |
OMIM:220500 |
| Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Platyspondyly, Pectus carinatum, Broad femoral neck, Hypoplastic sacrum, Upper limb undergrowth, ... |
OMIM:271650 |
| Fibular Aplasia-Ectrodactyly Syndrome |
|
Aplasia/Hypoplasia of the fibula, Split hand, Abnormal morphology of ulna |
ORPHA:1118 |
| Thrombocytopenia 11 With Multiple Congenital Anomalies And Dysmorphic Facies |
|
Ventricular hypertrophy, Aortic root aneurysm, Lymphopenia, Pancytopenia, Micrognathia, Ventricul... |
OMIM:620654 |
| Aneurysm-Osteoarthritis Syndrome |
|
Abdominal aortic aneurysm, Intervertebral disk degeneration, Arachnodactyly, Knee osteoarthritis,... |
ORPHA:284984 |
| Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome |
|
Gastroesophageal reflux, Microretrognathia, Intestinal malrotation, Cryptorchidism, Ventricular s... |
ORPHA:457193 |
| Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome |
|
Supernumerary nipple, Atrioventricular canal defect, Cryptorchidism, Coarctation of aorta, Spreng... |
OMIM:618929 |
| Tarp Syndrome |
|
Clinodactyly, Micrognathia, Talipes equinovarus, Atrial septal defect, Bilateral talipes equinova... |
OMIM:311900 |
| Abruzzo-Erickson Syndrome |
|
Ulnar deviation of finger, Toe syndactyly, Short toe, Cryptorchidism, Radioulnar synostosis, Atri... |
ORPHA:921 |
| Lessel-Kreienkamp Syndrome |
|
Gastroesophageal reflux, Patent foramen ovale, Wide cranial sutures, Bicuspid aortic valve, Atria... |
OMIM:619149 |
| Ulna Metaphyseal Dysplasia Syndrome |
|
Aplasia/Hypoplasia of the radius, Abnormal form of the vertebral bodies, Abnormal hip bone morpho... |
ORPHA:1837 |
| Treacher-Collins Syndrome |
|
Abnormality of the vertebral column, Abnormal dental enamel morphology, Micrognathia, Cryptorchid... |
ORPHA:861 |
| Craniosynostosis, Herrmann-Opitz Type |
|
Abnormality of the urethra, Finger syndactyly, Micromelia, Micrognathia, Aplasia/Hypoplasia of th... |
ORPHA:2145 |
| Coenzyme Q10 Deficiency, Primary, 8 |
|
Left ventricular hypertrophy, Flexion contracture, Abnormal renal corticomedullary differentiatio... |
OMIM:616733 |
| Mirage Syndrome |
|
Gastroesophageal reflux, Rocker bottom foot, Microphallus, Aspiration pneumonia, Radial club hand... |
OMIM:617053 |
| Aortic Arch Anomaly With Peculiar Facies And Impaired Intellectual Development |
|
Right aortic arch with mirror image branching |
OMIM:107500 |
| Syndactyly, Type V |
|
Short distal phalanx of finger, Joint contracture of the hand, Carpal synostosis, 3-4 toe syndact... |
OMIM:186300 |
| Intellectual Disability-Strabismus Syndrome |
|
Joint contracture of the hand, Gastroesophageal reflux, Decreased response to growth hormone stim... |
ORPHA:363528 |
| Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Delayed epiphyseal ossification, Rickets, Failure to thrive, Hypocalcemia, Sparse bone trabeculae... |
OMIM:264700 |
| Ivic Syndrome |
|
Aplastic clavicle, Synostosis of carpal bones, Short thumb, Preaxial hand polydactyly, Radioulnar... |
ORPHA:2307 |
| Mucopolysaccharidosis Type 4 |
|
Platyspondyly, Pectus carinatum, Joint dislocation, Short thorax, Abnormal epiphysis morphology, ... |
ORPHA:582 |
| Bardet-Biedl Syndrome 7 |
|
2-3 toe syndactyly, Postaxial polydactyly, Clinodactyly, Polydactyly |
OMIM:615984 |
| Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects |
|
Transposition of the great arteries, Patent foramen ovale |
OMIM:616789 |
| Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Delayed epiphyseal ossification, Bell-shaped thorax, Narrow vertebral interpedicular distance, Sh... |
OMIM:602557 |
| Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities |
|
Epiphyseal dysplasia, Thoracolumbar kyphosis, Hypoplasia of the capital femoral epiphysis, Single... |
OMIM:617425 |
| Aphalangia, Partial, With Syndactyly And Duplication Of Metatarsal Iv |
|
Aplasia/Hypoplasia of toe, Cutaneous finger syndactyly, Duplication of metatarsal bones, Syndactyly |
OMIM:600384 |
| Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities |
|
Clinodactyly of the 2nd toe, Broad thumb, Clinodactyly of the 2nd finger, Micrognathia, Cryptorch... |
OMIM:620073 |
| Oculogastrointestinal Neurodevelopmental Syndrome |
|
Horseshoe kidney, Bicuspid aortic valve, Anal atresia |
OMIM:619318 |
| Pseudohypoparathyroidism, Type Ic |
|
Hyperphosphatemia, Hypocalcemic tetany, Obesity, Hypocalcemia, Osteoporosis |
OMIM:612462 |
| Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Pear-shaped vertebrae, Platyspondyly, Rhizomelia, Metaphyseal cupping, Radial bowing, Flared meta... |
OMIM:602111 |
| Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Delayed epiphyseal ossification, Abnormal ilium morphology, Hypoplasia of the odontoid process, R... |
ORPHA:93314 |
| Ciliary Dyskinesia, Primary, 44 |
|
Heterotaxy |
OMIM:618781 |
| Hyperparathyroidism 4 |
|
Osteopenia, Hypercalcemia |
OMIM:617343 |
| Weill-Marchesani Syndrome 2 |
|
Aortic valve stenosis, Broad phalanges of the hand, Ventricular septal defect, High palate, Short... |
OMIM:608328 |
| Noonan Syndrome 8 |
|
Abnormal sternum morphology, Hypertrophic cardiomyopathy, Pleural effusion, Cryptorchidism, Ventr... |
OMIM:615355 |
| Radial Aplasia, X-Linked |
|
Anal atresia, Penile hypospadias, Absent radius |
OMIM:312190 |
| Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation |
|
Scoliosis, Atrial septal defect, Ventricular septal defect |
OMIM:608227 |
| Noonan Syndrome 10 |
|
Pectus carinatum, Hypertrophic cardiomyopathy, Pleural effusion, Cryptorchidism, Mitral valve pro... |
OMIM:616564 |
| Sotos Syndrome |
|
High, narrow palate, Narrow palate, Long metacarpals, Gastroesophageal reflux, Muscular ventricul... |
OMIM:117550 |
| Anauxetic Dysplasia 3 |
|
Platyspondyly, Broad middle phalanx of finger, Narrow chest, Gastroesophageal reflux, Squared ili... |
OMIM:618853 |
| Braddock-Carey Syndrome 1 |
|
Multicystic kidney dysplasia, Small hand, Clinodactyly, Anteriorly placed anus, Ventricular septa... |
OMIM:619980 |
| Split-Hand/Foot Malformation 6 |
|
Finger aplasia, Toe syndactyly, Finger syndactyly, Foot oligodactyly, Split hand, Split foot |
OMIM:225300 |
| Indomethacin Embryofetopathy |
|
Nephropathy, Multicystic kidney dysplasia, Cardiomyopathy, Renal insufficiency, Ventricular septa... |
ORPHA:1909 |
| Microcephaly-Cardiomyopathy Syndrome |
|
High, narrow palate, Dilated cardiomyopathy, Sandal gap, Ventricular septal defect, Clinodactyly ... |
ORPHA:2515 |
| Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects |
|
Small hand, Toe syndactyly, Micrognathia, Cryptorchidism, Ventricular septal defect, Limited elbo... |
OMIM:610759 |
| Weill-Marchesani Syndrome 1 |
|
Aortic valve stenosis, Broad phalanges of the hand, Spinal canal stenosis, Broad ribs, Lumbar hyp... |
OMIM:277600 |
| 3M Syndrome |
|
Thin ribs, Short neck, Hypoplastic ischia, Hypospadias, Abnormality of the elbow, Increased verte... |
ORPHA:2616 |
| Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Hypoalbuminemia, Craniosynostosis, Obesity, Cardiomegaly |
ORPHA:88643 |
| Bryant-Li-Bhoj Neurodevelopmental Syndrome 2 |
|
Hypoplastic left heart, Gastroesophageal reflux, Broad thumb, Prominent fingertip pads, Thoracic ... |
OMIM:619721 |
| X-Linked Intellectual Disability, Nascimento Type |
|
Peripheral pulmonary artery stenosis, Clubbing of toes, Tetralogy of Fallot, Overlapping toe, Pes... |
ORPHA:163956 |
| Solitary Bone Cyst |
|
Abnormal ilium morphology, Abnormal form of the vertebral bodies, Abnormal tibia morphology, Lyti... |
ORPHA:83468 |
| Bardet-Biedl Syndrome 4 |
|
Renal cyst, Syndactyly, Brachydactyly, Polydactyly |
OMIM:615982 |
| Isotretinoin-Like Syndrome |
|
Abnormality of the pulmonary veins, Aortic valve stenosis, Abnormal cardiac ventricle morphology,... |
ORPHA:2306 |
| Cardiomyopathy, Dilated, 1I |
|
Cardiomegaly, Dilated cardiomyopathy, Elevated circulating creatine kinase concentration |
OMIM:604765 |
| Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities |
|
Clinodactyly of the 5th finger, Patent foramen ovale, Ventricular septal defect, Clinodactyly of ... |
OMIM:620113 |
| Terminal Osseous Dysplasia-Pigmentary Defects Syndrome |
|
Restrictive cardiomyopathy, Clinodactyly, Patent foramen ovale, Brachydactyly, Osteolysis involvi... |
ORPHA:88630 |
| Intellectual Developmental Disorder, Autosomal Dominant 48 |
|
Hypospadias, Recurrent pneumonia, Umbilical hernia, Ventricular septal defect, Bicuspid aortic va... |
OMIM:617751 |
| Gaucher Disease, Type Ii |
|
Double aortic arch, Gastroesophageal reflux, Dysphagia |
OMIM:230900 |
| Christian Syndrome |
|
Anal atresia, Short middle phalanx of finger |
OMIM:309620 |
| Chondrodysplasia Punctata, Tibia-Metacarpal Type |
|
Short 3rd metacarpal, Short tibia, Micromelia, Epiphyseal stippling, Short 4th metacarpal, Limb u... |
OMIM:118651 |
| Adamantinoma |
|
Hypercalcemia |
ORPHA:55881 |
| Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Thin ribs, Contracture of the distal interphalangeal joint of the fingers, Overlapping toe, Micro... |
ORPHA:83617 |
| Spondyloepiphyseal Dysplasia Congenita |
|
Dysplasia of the femoral head, Micrognathia, Genu valgum, Barrel-shaped chest, Limited elbow move... |
ORPHA:94068 |
| Osteopetrosis, Autosomal Recessive 1 |
|
Failure to thrive, Splenomegaly, Hypocalcemia, Osteopetrosis, Calvarial osteosclerosis, Hepatomeg... |
OMIM:259700 |
| Cutis Laxa, Autosomal Recessive, Type Iie |
|
Lumbar hyperlordosis, Clinodactyly of the 5th finger, Inguinal hernia, Deep palmar crease, Brachy... |
OMIM:619451 |
| Coffin-Siris Syndrome 6 |
|
High, narrow palate, Gastroesophageal reflux, Clinodactyly, Micrognathia, Kyphoscoliosis, Wormian... |
OMIM:617808 |
| Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies |
|
Broad thumb, Overlapping toe, Cryptorchidism, Down-sloping shoulders, Ventricular septal defect, ... |
OMIM:617452 |
| Brachydactyly-Syndactyly Syndrome |
|
Finger syndactyly, Oligodactyly, Short digit, Brachydactyly, Camptodactyly, Short phalanx of fing... |
OMIM:610713 |
| Ogden Syndrome |
|
Delayed cranial suture closure, Micrognathia, Cryptorchidism, Ventricular septal defect, Pulmonar... |
OMIM:300855 |
| Rhizomelic Limb Shortening With Dysmorphic Features |
|
Short 5th finger, Rhizomelia, Prominent fingertip pads, Stage 1 chronic kidney disease, Short thu... |
OMIM:618821 |
| Refractory Celiac Disease |
|
Hypoalbuminemia, Hypomagnesemia, Hypocalcemia, Hypophosphatemia, Weight loss, Osteoporosis, Hypop... |
ORPHA:398063 |
| Martinez-Frias Syndrome |
|
Intestinal malrotation, Jejunal atresia, Tracheoesophageal fistula, Intestinal hypoplasia, Hyposp... |
OMIM:601346 |
| Orofaciodigital Syndrome V |
|
Bifid uvula, Postaxial foot polydactyly, Sandal gap, Horseshoe kidney, Tetralogy of Fallot, Ankyl... |
OMIM:174300 |
| Lethal Congenital Contracture Syndrome 1 |
|
Abnormal thorax morphology, Micrognathia, Widening of cervical spinal canal, Paucity of anterior ... |
OMIM:253310 |
| Loeys-Dietz Syndrome 4 |
|
Aortic root aneurysm, Mitral valve prolapse, Arachnodactyly, Eosinophilic infiltration of the eso... |
OMIM:614816 |
| Opitz-Kaveggia Syndrome |
|
Pyloric stenosis, Joint contracture of the hand, Broad thumb, Anal stenosis, Clinodactyly, Promin... |
OMIM:305450 |
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3 |
|
Lambdoidal craniosynostosis, Nephrocalcinosis, Restrictive cardiomyopathy, Hydroureter, Ureteral ... |
OMIM:615398 |
| Neu-Laxova Syndrome 1 |
|
Joint contracture of the hand, Toe syndactyly, Finger syndactyly, Clinodactyly, Micrognathia, Cry... |
OMIM:256520 |
| Toxic Epidermal Necrolysis |
|
Gastrointestinal hemorrhage, Abnormality of the urethra, Abnormal pleura morphology, Renal insuff... |
ORPHA:537 |
| Hypocalcemic Vitamin D-Dependent Rickets |
|
Delayed epiphyseal ossification, Rickets, Failure to thrive, Cardiomyopathy, Osteomalacia, Hypoca... |
ORPHA:289157 |
| Dysspondyloenchondromatosis |
|
Platyspondyly, Anisospondyly, Joint dislocation, Lower limb asymmetry, Abnormal ulnar metaphysis ... |
ORPHA:85198 |
| Inverted Duplicated Chromosome 15 Syndrome |
|
Unilateral renal agenesis, Tetralogy of Fallot, Cryptorchidism, Ventricular septal defect, Hernia... |
ORPHA:3306 |
| Classical Ehlers-Danlos Syndrome |
|
Aortic root aneurysm, Mitral valve prolapse, Talipes equinovarus, Pes planus, Patellar dislocatio... |
ORPHA:287 |
| Multiple Epiphyseal Dysplasia, Al-Gazali Type |
|
Delayed epiphyseal ossification, Clinodactyly, Genu valgum, Cutaneous syndactyly, Spindle-shaped ... |
ORPHA:166024 |
| Osteofibrous Dysplasia, Susceptibility To |
|
Pectus excavatum, Pseudoarthrosis, Fibular hypoplasia |
OMIM:607278 |
| Schwartz-Jampel Syndrome, Type 1 |
|
Joint contracture of the hand, Micrognathia, Hip contracture, Bowing of the long bones, Talipes e... |
OMIM:255800 |
| Cortical Dysplasia, Complex, With Other Brain Malformations 9 |
|
Bilateral talipes equinovarus, Pulmonary hypoplasia |
OMIM:618174 |
| Greenberg Dysplasia |
|
Platyspondyly, Narrow chest, Rhizomelia, Abnormal form of the vertebral bodies, Micromelia, Abnor... |
ORPHA:1426 |
| Peutz-Jeghers Syndrome |
|
Biliary tract neoplasm, Gastrointestinal hemorrhage, Gastrointestinal carcinoma, Pancreatic adeno... |
ORPHA:2869 |
| Specc1L-Related Hypertelorism Syndrome |
|
Finger syndactyly, Short toe, Umbilical hernia, Tetralogy of Fallot, Clinodactyly of the 5th fing... |
ORPHA:1519 |
| Syndactyly-Telecanthus-Anogenital And Renal Malformations Syndrome |
|
Toe syndactyly, Mitral atresia, Horseshoe kidney, Renal insufficiency, Vesicoureteral reflux, Pul... |
ORPHA:140952 |
| Congenital Myopathy 1B, Autosomal Recessive |
|
Increased connective tissue, High palate, Recurrent respiratory infections, Scoliosis, Pulmonary ... |
OMIM:255320 |
| Pulmonary Hypoplasia, Primary |
|
Pulmonary hypoplasia |
OMIM:265430 |
| Char Syndrome |
|
Clinodactyly of the 5th finger, Distal/middle symphalangism of 5th finger, Patent ductus arteriosus |
OMIM:169100 |
| Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Finger syndactyly, Male urethral meatus stenosis, Clinodactyly, Overlapping toe, Overlapping fing... |
ORPHA:464738 |
| Renal Hypodysplasia/Aplasia 4 |
|
Pulmonary hypoplasia |
OMIM:619887 |
| Hypogonadism With Low-Grade Mental Deficiency And Microcephaly |
|
2-4 toe syndactyly, Syndactyly |
OMIM:241000 |
| Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type |
|
Abnormal vertebral morphology, Platyspondyly, Aplasia/hypoplasia involving bones of the extremiti... |
ORPHA:93346 |
| Aortic Arch Interruption |
|
Abnormal heart morphology, Ventricular septal defect, Truncus arteriosus, Bicuspid aortic valve, ... |
ORPHA:2299 |
| Renal Hypodysplasia/Aplasia 2 |
|
Pulmonary hypoplasia |
OMIM:615721 |
| Suleiman-El-Hattab Syndrome |
|
Microretrognathia, Clinodactyly, Inguinal hernia, Cryptorchidism, Ventricular septal defect, Hydr... |
OMIM:618950 |
| Multiple Epiphyseal Dysplasia Type 4 |
|
Hypoplastic cervical vertebrae, Radial bowing, Premature osteoarthritis, Abnormal hand morphology... |
ORPHA:93307 |
| Endosteal Hyperostosis, Worth Type |
|
Sclerotic vertebral body, Abnormal form of the vertebral bodies, Clavicular sclerosis, Diaphyseal... |
ORPHA:2790 |
| Kleefstra Syndrome Due To A Point Mutation |
|
Gastroesophageal reflux, Tracheomalacia, Abnormal heart morphology, Vesicoureteral reflux, Anal a... |
ORPHA:261652 |
| Diamond-Blackfan Anemia 1 |
|
Persistence of hemoglobin F, Delayed cranial suture closure, Micrognathia, Ventricular septal def... |
OMIM:105650 |
| Complete Atrioventricular Septal Defect |
|
Primum atrial septal defect, Displacement of the papillary muscles, Abnormal cardiac atrium morph... |
ORPHA:1329 |
| Anauxetic Dysplasia 1 |
|
Aortic valve stenosis, Atlantoaxial dislocation, Barrel-shaped chest, Hip contracture, Short neck... |
OMIM:607095 |
| Fanconi Anemia, Complementation Group D1 |
|
Anal atresia, Short thumb |
OMIM:605724 |
| Hyperprolinemia, Type I |
|
Hyperprolinemia, Aggressive behavior, Motor stereotypy, Hyperactivity |
OMIM:239500 |
| Meckel Syndrome 14 |
|
Postaxial foot polydactyly, Microretrognathia, Micrognathia, Talipes, Bowing of the long bones, S... |
OMIM:619879 |
| Chromosome 15Q14 Deletion Syndrome |
|
Recurrent viral upper respiratory tract infections, Atrial septal defect, Cleft palate, Ventricul... |
OMIM:616898 |
| Omphalocele, X-Linked |
|
Omphalocele |
OMIM:310980 |
| Omphalocele, Autosomal |
|
Omphalocele |
OMIM:164750 |
| 8P11.2 Deletion Syndrome |
|
Micrognathia, Cryptorchidism, Splenomegaly, Mitral valve prolapse, Supernumerary ribs, Talipes eq... |
ORPHA:251066 |
| Osteogenesis Imperfecta, Type X |
|
Thin ribs, Micrognathia, Genu valgum, Fibular bowing, Bowing of the long bones, Thoracic hypoplas... |
OMIM:613848 |
| Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly |
|
Popliteal pterygium, Patellar hypoplasia, Preaxial foot polydactyly, Median cleft palate, Mirror ... |
OMIM:119800 |
| Megalencephaly |
|
Long penis, Genu valgum, Short neck, Atrial septal defect, Macroorchidism |
ORPHA:2477 |
| Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Unbalanced atrioventricular canal defect, Broad thumb, Dark urine, Ventricular septal defect, Bro... |
OMIM:619534 |
| Alagille Syndrome |
|
Short distal phalanx of finger, Peripheral pulmonary artery stenosis, Nephrotic syndrome, Abnorma... |
ORPHA:52 |
| Meckel Syndrome, Type 8 |
|
Narrow chest, Polydactyly, Talipes equinovarus, Pericardial effusion, Polycystic kidney dysplasia... |
OMIM:613885 |
| Brachydactyly Type B |
|
Short distal phalanx of finger, Synostosis of carpal bones, Finger syndactyly, Type B brachydacty... |
ORPHA:93383 |
| Focal Facial Dermal Dysplasia 3, Setleis Type |
|
Anal atresia |
OMIM:227260 |
| Nephronophthisis 2 |
|
Nephronophthisis, Stage 5 chronic kidney disease, Situs inversus totalis, Absence of renal cortic... |
OMIM:602088 |
| Pallister-Killian Syndrome |
|
Aortic valve stenosis, Small hand, Postaxial foot polydactyly, Supernumerary nipple, Delayed cran... |
OMIM:601803 |
| Intellectual Disability-Polydactyly-Uncombable Hair Syndrome |
|
Pectus carinatum, Aplasia/Hypoplasia of fingers, Toe syndactyly, Abnormal epiphysis morphology, M... |
ORPHA:3082 |
| Aorta Coarctation |
|
Hypoplastic left heart, Tetralogy of Fallot, Coronary artery atherosclerosis, Cardiomegaly, Strok... |
ORPHA:1457 |
| Toriello-Carey Syndrome |
|
Narrow chest, Clinodactyly, Anteriorly placed anus, Cardiomyopathy, Tetralogy of Fallot, Microgna... |
ORPHA:3338 |
| Cartilage-Hair Hypoplasia |
|
Hypoplasia of the odontoid process, Lymphopenia, Narrow vertebral interpedicular distance, Neutro... |
OMIM:250250 |
| Chromosome 6Q24-Q25 Deletion Syndrome |
|
High, narrow palate, Small hand, Right ventricular dilatation, Prominent fingertip pads, Anterior... |
OMIM:612863 |
| Hypothyroidism, Congenital, Nongoitrous, 4 |
|
Macroglossia, Omphalocele, Umbilical hernia |
OMIM:275100 |
| Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy |
|
Atrial septal defect, Ventricular septal defect |
OMIM:614249 |
| Ruvalcaba Syndrome |
|
Narrow chest, Small hand, Micromelia, Limited elbow extension, Inguinal hernia, Cryptorchidism, S... |
OMIM:180870 |
| Glycine Encephalopathy 1 |
|
Hyperglycinemia, Aggressive behavior, Hyperactivity, Restlessness, Impulsivity |
OMIM:605899 |
| Juberg-Hayward Syndrome |
|
Anteriorly placed anus, Horseshoe kidney, Limited elbow extension, Abnormal toe morphology, Aplas... |
OMIM:216100 |
| Shashi-Pena Syndrome |
|
Unilateral renal agenesis, Dilation of Virchow-Robin spaces, Kyphosis, Cervical C2/C3 vertebral f... |
OMIM:617190 |
| Myhre Syndrome |
|
Aortic valve stenosis, Clinodactyly, Hypoplastic iliac wing, Enlarged vertebral pedicles, Overlap... |
OMIM:139210 |
| Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome |
|
Joint contracture of the hand, Clinodactyly, Broad 2nd toe, Ventricular septal defect, Large hand... |
OMIM:280000 |
| Aortic Aneurysm, Familial Thoracic 9 |
|
Pectus carinatum, Mitral valve prolapse, Arachnodactyly, Aortic tortuosity, Ascending aortic diss... |
OMIM:616166 |
| Van Maldergem Syndrome 1 |
|
Renal hypoplasia, Narrow chest, Clinodactyly, Anteriorly placed anus, Tracheomalacia, Cutaneous f... |
OMIM:601390 |
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome |
|
Small hand, Aortic root aneurysm, Short neck, Atrial septal defect, Anal atresia, Short foot, Hig... |
ORPHA:280633 |
| Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4B |
|
3-Methylglutaconic aciduria, Pulmonary hypoplasia |
OMIM:615228 |
| Isolated Osteopoikilosis |
|
Sclerotic foci within carpal bones, Keloids, Tarsal sclerosis, Abnormal pelvis bone ossification,... |
ORPHA:166119 |
| Hennekam Lymphangiectasia-Lymphedema Syndrome 2 |
|
Intestinal lymphangiectasia, Abnormal tracheal morphology, Pulmonary lymphangiectasia, Camptodact... |
OMIM:616006 |
| Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy |
|
Thin ribs, Hypoplasia of the odontoid process, Broad foot, Short neck, Anterior rib cupping, Flat... |
OMIM:300232 |
| Craniofacial Microsomia 1 |
|
Multicystic kidney dysplasia, Block vertebrae, Cervical ribs, Tetralogy of Fallot, Micrognathia, ... |
OMIM:164210 |
| Pontocerebellar Hypoplasia, Type 11 |
|
Talipes equinovarus, Anal atresia, Dysphagia |
OMIM:617695 |
| Neurooculorenal Syndrome |
|
Ectopic posterior pituitary, Unilateral renal agenesis, Short 1st metacarpal, Anteriorly placed a... |
OMIM:620305 |
| Acrocephalopolydactyly |
|
Genu recurvatum, Thoracic hypoplasia, Hepatosplenomegaly, Short neck, Limb undergrowth, Brachydac... |
ORPHA:221054 |
| Type 1 Diabetes Mellitus |
|
Polydipsia, Hyperglycemia, Polyphagia, Decreased level of 1,5 anhydroglucitol in serum, Diabetes ... |
OMIM:222100 |
| Noonan Syndrome 2 |
|
Micrognathia, Cryptorchidism, Mitral valve prolapse, Ventricular septal defect, Bicuspid aortic v... |
OMIM:605275 |
| Congenital Myopathy 17 |
|
Hand clenching, Renal hypoplasia, Narrow chest, Clinodactyly, Overlapping toe, Overlapping finger... |
OMIM:618975 |
| Klippel-Trénaunay Syndrome |
|
Cellulitis, Gastrointestinal hemorrhage, Lower limb asymmetry, Microcytic anemia, Upper limb asym... |
ORPHA:90308 |
| Galloway-Mowat Syndrome 7 |
|
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Dilated cardiomyopathy, Cl... |
OMIM:618348 |
| Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Hypomagnesemia, Hypocalcemia, Hypokalemia, Cachexia, Anorexia |
OMIM:175500 |
| Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
High, narrow palate, Nephrocalcinosis, Gastroesophageal reflux, Restrictive cardiomyopathy, Slend... |
ORPHA:369837 |
| Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome |
|
Multicystic kidney dysplasia, Microcolon, Hydroureter, Megacystis, Umbilical hernia, Intestinal m... |
ORPHA:2241 |
| Fontaine Progeroid Syndrome |
|
Micrognathia, Cryptorchidism, Protruding tongue, Reduced subcutaneous adipose tissue, Bicuspid ao... |
OMIM:612289 |
| Iniencephaly |
|
Rhizomelia, Spinal dysraphism, Absent vertebra, Congenital diaphragmatic hernia, Syringomyelia, T... |
ORPHA:63259 |
| Acropectorovertebral Dysplasia |
|
High, narrow palate, Short distal phalanx of finger, Broad thumb, Synostosis of carpal bones, Fin... |
ORPHA:957 |
| Char Syndrome |
|
Toe syndactyly, Supernumerary nipple, Mesoaxial foot polydactyly, Mesoaxial hand polydactyly, Ven... |
ORPHA:46627 |
| Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Chronic kidney disease, Nephronophthisis, Thoracic hypoplasia, Thoracic dysplasia, Bell-shaped th... |
OMIM:615630 |
| Spondyloepimetaphyseal Dysplasia, Matrilin-3 Type |
|
Thoracic hypoplasia, Lumbar hyperlordosis, Limited elbow extension, Limb undergrowth, Pectus exca... |
ORPHA:156728 |
| Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A |
|
Carpal synostosis, Cutaneous finger syndactyly, Barrel-shaped chest, Hip contracture, Ventricular... |
OMIM:178110 |
| Achondrogenesis |
|
Narrow chest, Micromelia, Umbilical hernia, Micrognathia, Inguinal hernia, Short neck, Aplasia/Hy... |
ORPHA:932 |
| Alg12-Cdg |
|
Biventricular hypertrophy, Overlapping fingers, Micrognathia, Cryptorchidism, Talipes equinovarus... |
ORPHA:79324 |
| Fanconi Anemia, Complementation Group N |
|
Unilateral renal agenesis, Absent thumb, Short thumb, Horseshoe kidney, Ventricular septal defect... |
OMIM:610832 |
| Mucopolysaccharidosis Type 7 |
|
Arteriovenous malformation, Anterior beaking of lower thoracic vertebrae, Umbilical hernia, Abnor... |
ORPHA:584 |
| Neurodegeneration And Seizures Due To Copper Transport Defect |
|
Short tibia, Glandular hypospadias, Cardiomegaly, Talipes equinovarus, Pneumothorax, Short femur,... |
OMIM:620306 |
| Focal Dermal Hypoplasia |
|
Toe syndactyly, Midclavicular aplasia, Supernumerary nipple, Cryptorchidism, Congenital diaphragm... |
OMIM:305600 |
| Peroxisome Biogenesis Disorder 8A (Zellweger) |
|
Glossoptosis, Epiphyseal stippling, Ventricular septal defect |
OMIM:614876 |
| 2Q31.1 Microdeletion Syndrome |
|
Toe syndactyly, Finger syndactyly, Abnormal tibia morphology, Micrognathia, Cryptorchidism, Ventr... |
ORPHA:251014 |
| White Forelock With Malformations |
|
Finger syndactyly, Clinodactyly of the 5th finger, Sprengel anomaly, Atrial septal defect, Abnorm... |
ORPHA:2475 |
| Seizures-Scoliosis-Macrocephaly Syndrome |
|
Gastroesophageal reflux, Overlapping toe, Cryptorchidism, Atrial septal defect, Scoliosis |
ORPHA:466926 |
| Hydrolethalus Syndrome 1 |
|
Accessory spleen, Abnormal lung lobation, Preaxial hand polydactyly, Upper limb undergrowth, Trac... |
OMIM:236680 |
| Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Aortic valve stenosis, Polysplenia, Intestinal malrotation, Stage 5 chronic kidney disease, Renal... |
OMIM:208540 |
| Mucopolysaccharidosis, Type Vi |
|
Epiphyseal dysplasia, Hypoplasia of the odontoid process, Hypoplastic iliac wing, Genu valgum, Ov... |
OMIM:253200 |
| Diabetes Mellitus, Permanent Neonatal, 4 |
|
Type I diabetes mellitus, Hyperglycemia, Reduced C-peptide level, Elevated hemoglobin A1c, Small ... |
OMIM:618858 |
| Congenital Heart Defects, Multiple Types, 3 |
|
Abnormal heart morphology, Persistent left superior vena cava, Tetralogy of Fallot, Atrial septal... |
OMIM:614954 |
| Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations |
|
Aortic valve stenosis, Ventricular hypertrophy, Elbow dislocation, Genu valgum, Bilateral single ... |
OMIM:143095 |
| Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome |
|
Toe syndactyly, Broad thumb, Overlapping toe, Cryptorchidism, Ventricular septal defect, Arachnod... |
ORPHA:505237 |
| Spondyloepimetaphyseal Dysplasia, X-Linked |
|
Hypoplasia of the odontoid process, Broad long bones, Broad phalanx, Flat acetabular roof, Short ... |
OMIM:300106 |
| Sonoda Syndrome |
|
Ventricular septal defect |
OMIM:270460 |
| Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome |
|
Gastroesophageal reflux, Tracheomalacia, Micrognathia, Right aortic arch, Pes cavus, Ventricular ... |
ORPHA:513456 |
| Kniest Dysplasia |
|
Delayed epiphyseal ossification, Enlarged metaphyses, Hypoplasia of the odontoid process, Abnorma... |
ORPHA:485 |
| Temple-Baraitser Syndrome |
|
Short distal phalanx of finger, Broad thumb, Gastroesophageal reflux, Broad hallux, Long hallux, ... |
OMIM:611816 |
| Say-Barber-Miller Syndrome |
|
Patellar hypoplasia, Elbow flexion contracture, Talipes equinovalgus, Ulnar deviation of the hand... |
ORPHA:3132 |
| Hypoglossia-Hypodactyly Syndrome |
|
Aplasia/Hypoplasia of fingers, Short distal phalanx of finger, Finger syndactyly, Aplasia/Hypopla... |
ORPHA:989 |
| Fraser Syndrome |
|
Toe syndactyly, Finger syndactyly, Cryptorchidism, High palate, Anal atresia, Hypospadias, Trache... |
ORPHA:2052 |
| Mucopolysaccharidosis, Type Vii |
|
Hypoplasia of the odontoid process, Urinary glycosaminoglycan excretion, Genu valgum, Talipes equ... |
OMIM:253220 |
| Buratti-Harel Syndrome |
|
Bifid uvula, Recurrent pneumonia, Gastroesophageal reflux, Dilation of Virchow-Robin spaces, Velo... |
OMIM:619314 |
| Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Pear-shaped vertebrae, Flared metaphysis, Small epiphyses, Femoral bowing, Tibial bowing, Knee os... |
ORPHA:93356 |
| Non-Syndromic Metopic Craniosynostosis |
|
Omphalocele |
ORPHA:3366 |
| Kenny-Caffey Syndrome, Type 1 |
|
Decreased skull ossification, Hypocalcemia, Calvarial osteosclerosis, Hypomagnesemia |
OMIM:244460 |
| Neurogenic Thoracic Outlet Syndrome |
|
Abnormal rib morphology |
ORPHA:100073 |
| Holoprosencephaly 13, X-Linked |
|
Hypoplastic left heart, Gastroesophageal reflux, Duodenal atresia, Thoracic hemivertebrae, Microg... |
OMIM:301043 |
| Oculoauriculovertebral Spectrum With Radial Defects |
|
Preaxial hand polydactyly, Atrioventricular canal defect, Distal urethral duplication, Vesicouret... |
ORPHA:2549 |
| Trichohepatoneurodevelopmental Syndrome |
|
Overlapping toe, Fibular bowing, Ventricular septal defect, Talipes equinovarus, Bilateral coxa v... |
OMIM:618268 |
| Retinitis Pigmentosa 89 |
|
Postaxial polydactyly, Bicuspid aortic valve, Esophageal varix |
OMIM:618955 |
| Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction |
|
Pulmonary artery atresia, Left superior vena cava draining directly to the left atrium, Ventricul... |
OMIM:613759 |
| Pontocerebellar Hypoplasia, Type 17 |
|
Gastroesophageal reflux, Secundum atrial septal defect, Microretrognathia, Ventricular septal def... |
OMIM:619909 |
| Absent Radius-Anogenital Anomalies Syndrome |
|
Ectrodactyly, Oligodactyly, Perineal fistula, Hypoplasia of the radius, Rectal atresia, Anal atre... |
ORPHA:3016 |
| Congenital Disorder Of Glycosylation, Type Iig |
|
Small hand, Shallow acetabular fossae, Giant platelets, Micrognathia, Cryptorchidism, Talipes equ... |
OMIM:611209 |
| Takenouchi-Kosaki Syndrome |
|
Unilateral renal agenesis, Clinodactyly, Abnormal sternum morphology, Proximal placement of thumb... |
OMIM:616737 |
| Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin |
|
Recurrent upper respiratory tract infections, Gastroesophageal reflux, Recurrent pneumonia, Persi... |
OMIM:619769 |
| 8Q12 Microduplication Syndrome |
|
Gastroesophageal reflux, Vesicoureteral reflux, Ventricular septal defect, Atrial septal defect, ... |
ORPHA:228399 |
| Septopreoptic Holoprosencephaly |
|
Abnormal vertebral morphology, Anteriorly placed anus, Coarctation of aorta, Abnormal rib morphol... |
ORPHA:280195 |
| Johanson-Blizzard Syndrome |
|
Anteriorly placed anus, Hydronephrosis, Anal atresia, Abnormal cardiac septum morphology, Dextroc... |
ORPHA:2315 |
| Frontometaphyseal Dysplasia 1 |
|
Broad phalanges of the hand, Partial fusion of carpals, Carpal synostosis, Genu valgum, Mitral va... |
OMIM:305620 |
| Acromesomelic Dysplasia, Hunter-Thompson Type |
|
Abnormal pelvic girdle bone morphology, Abnormality of the ankle, Hip dislocation, Elbow dislocat... |
ORPHA:968 |
| Brachydactyly Type B2 |
|
Short distal phalanx of finger, Synostosis of carpal bones, Finger syndactyly, Short toe, Type B ... |
ORPHA:140908 |
| Patent Ductus Arteriosus 3 |
|
Patent ductus arteriosus |
OMIM:617039 |
| Patent Ductus Arteriosus 1 |
|
Patent ductus arteriosus |
OMIM:607411 |
| Primary Non-Essential Cutis Verticis Gyrata |
|
Keloids, Scoliosis, Atrial septal defect, Ventricular septal defect |
ORPHA:357225 |
| Kury-Isidor Syndrome |
|
Finger syndactyly, Ventricular septal defect, Hydronephrosis, Talipes equinovarus, Short neck, Br... |
OMIM:619762 |
| Autosomal Dominant Spondylocostal Dysostosis |
|
Short thorax, Abnormal sacrum morphology, Vertebral segmentation defect, Missing ribs, Short neck... |
ORPHA:1797 |
| Dyrk1A-Related Intellectual Disability Syndrome |
|
Aortic valve stenosis, Toe syndactyly, Structural foot deformity, Cryptorchidism, Ventricular sep... |
ORPHA:464306 |
| Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly |
|
Absent pulmonary artery, Tetralogy of Fallot, Cryptorchidism, Ventricular septal defect, Coarctat... |
OMIM:600460 |
| Ring Chromosome 10 Syndrome |
|
Cachexia, Hypocalcemia |
ORPHA:1438 |
| Hypobetalipoproteinemia, Familial, 1 |
|
Decreased HDL cholesterol concentration, Hypocholesterolemia, Decreased LDL cholesterol concentra... |
OMIM:615558 |
| Acromelic Frontonasal Dysplasia |
|
Aplasia/Hypoplasia of the tibia, Patellar hypoplasia, Hypopituitarism, Preaxial foot polydactyly,... |
ORPHA:1827 |
| Polydactyly, Postaxial, Type A8 |
|
Postaxial polydactyly, Genu valgum |
OMIM:618123 |
| X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Absent gallbladder, Cryptorchidism, Ventricular septal defect, Pes planus, Atrial septal defect, ... |
ORPHA:163979 |
| Ectodermal Dysplasia, Ectrodactyly, And Macular Dystrophy Syndrome |
|
Joint contracture of the hand, 1-4 finger syndactyly, 3-4 toe syndactyly, 2-4 finger syndactyly, ... |
OMIM:225280 |
| Zttk Syndrome |
|
Small hand, Absent gallbladder, Ventricular septal defect, Atrial septal defect, High palate, Sho... |
OMIM:617140 |
| Congenital Heart Defects, Multiple Types, 2 |
|
Aortic valve stenosis, Myxomatous mitral valve degeneration, Tetralogy of Fallot, Ventricular sep... |
OMIM:614980 |
| Tetraamelia-Multiple Malformations Syndrome |
|
Multicystic kidney dysplasia, Abnormal lung lobation, Aplasia/Hypoplasia involving the pelvis, Tr... |
ORPHA:3301 |
| Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Pectus carinatum, Recurrent pneumonia, Gastroesophageal reflux, Furrowed tongue, Inguinal hernia,... |
OMIM:616449 |
| Shox-Related Short Stature |
|
Micrognathia, Genu valgum, Tibial bowing, Madelung deformity, Ulnar radial head dislocation, Cubi... |
ORPHA:314795 |
| Heart Defect-Tongue Hamartoma-Polysyndactyly Syndrome |
|
Hamartoma of tongue, Cryptorchidism, 2-3 finger syndactyly, Subvalvular aortic stenosis, Patent d... |
ORPHA:1338 |
| Wolf-Hirschhorn Syndrome |
|
Abnormal vertebral morphology, Micrognathia, Cryptorchidism, Congenital diaphragmatic hernia, Her... |
ORPHA:280 |
| Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies |
|
Dextrotransposition of the great arteries, Ventricular septal defect, Ankle clonus, Pes valgus, B... |
OMIM:619995 |
| Martsolf Syndrome 1 |
|
Micrognathia, Cryptorchidism, Talipes equinovarus, Pes planus, Broad fingertip, Finger joint hype... |
OMIM:212720 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 35 |
|
Contracture of the proximal interphalangeal joint of the 2nd finger, Cryptorchidism, Broad foot, ... |
OMIM:300998 |
| Cranioectodermal Dysplasia 2 |
|
Clinodactyly, Micrognathia, Short neck, Atrial septal defect, High palate, Patent ductus arterios... |
OMIM:613610 |
| Townes-Brocks Syndrome |
|
Toe syndactyly, Broad thumb, Atrial septal defect, Rectoperineal fistula, Anal atresia, Rectovagi... |
ORPHA:857 |
| Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2 |
|
Absent patellar reflexes, Abnormal foot morphology, Hand muscle weakness, Absent Achilles reflex,... |
ORPHA:99947 |
| Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Aortic valve stenosis, Cryptorchidism, Ventricular septal defect, Flexion contracture of finger, ... |
ORPHA:464311 |
| Microcephaly-Cervical Spine Fusion Anomalies Syndrome |
|
Abnormal reticulocyte morphology, Abnormal clavicle morphology, Abnormality of the ureter, Abnorm... |
ORPHA:2522 |
| Distal Deletion 12Q |
|
Overlapping toe, Micrognathia, Short neck, Large hands, Ectopic kidney, Duodenal atresia, Polycys... |
ORPHA:96149 |
| 10Q22.3Q23.3 Microduplication Syndrome |
|
Tetralogy of Fallot, Abnormal clavicle morphology, Hypospadias, Abnormal rib morphology |
ORPHA:276422 |
| Craniofacial Microsomia 2 |
|
Bifid uvula, Dermal sinus tract, Submucous cleft palate |
OMIM:620444 |
| Raine Syndrome |
|
Hydroureter, Thoracic hypoplasia, Micromelia, Long hallux, Micrognathia, Protruding tongue, Hydro... |
OMIM:259775 |
| Classical-Like Ehlers-Danlos Syndrome Type 2 |
|
Cellulitis, Aortic root aneurysm, Elbow dislocation, Prominent veins on trunk, Micrognathia, Cryp... |
ORPHA:536532 |
| Pallister-Hall Syndrome |
|
Toe syndactyly, Broad thumb, Radial bowing, Hypopituitarism, Polydactyly affecting the 4th finger... |
ORPHA:672 |
| Acitretin/Etretinate Embryopathy |
|
Abnormality of the calcaneus, Atrioventricular canal defect, Micrognathia, Conotruncal defect, Me... |
ORPHA:40366 |
| Hypophosphatemic Rickets, X-Linked Dominant |
|
Renal phosphate wasting, Shortening of the talar neck, Metaphyseal irregularity, Rachitic rosary,... |
OMIM:307800 |
| Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome |
|
Cryptorchidism, Ventricular septal defect, Talipes, Bicuspid aortic valve, Atrial septal defect, ... |
ORPHA:453499 |
| Cardioacrofacial Dysplasia 2 |
|
Narrow chest, Postaxial foot polydactyly, Atrioventricular canal defect, Genu valgum, Clinodactyl... |
OMIM:619143 |
| Linear Skin Defects With Multiple Congenital Anomalies 2 |
|
Ventricular hypertrophy, Sandal gap, Tetralogy of Fallot, Congenital diaphragmatic hernia, Atrial... |
OMIM:300887 |
| Robinow Syndrome |
|
Multicystic kidney dysplasia, Ankyloglossia, Micrognathia, Cryptorchidism, Ventricular septal def... |
ORPHA:97360 |
| Gillespie Syndrome |
|
Truncus arteriosus |
OMIM:206700 |
| Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type |
|
Splenomegaly, Limb undergrowth, Abnormal limb bone morphology, Aplasia/Hypoplasia of the lungs |
ORPHA:2204 |
| Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly |
|
Radial bowing, Genu valgum, Thoracolumbar scoliosis, Metaphyseal dysplasia, Ovoid vertebral bodie... |
OMIM:618019 |
| Short-Rib Thoracic Dysplasia 18 With Polydactyly |
|
Radial bowing, Micromelia, Preaxial polydactyly, Intestinal malrotation, Thoracic hypoplasia, Uln... |
OMIM:617866 |
| Maturity-Onset Diabetes Of The Young, Type 10 |
|
Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young, Diabetic ketoacidosis |
OMIM:613370 |
| Fetal Valproate Spectrum Disorder |
|
Omphalocele |
ORPHA:1906 |
| Fryns Microphthalmia Syndrome |
|
Tessier cleft, Bilateral cleft lip, Neural tube defect, Bilateral cleft palate |
OMIM:600776 |
| Maternal Uniparental Disomy Of Chromosome 2 |
|
Abnormality of the ankle, Contractures of the large joints, Bilateral cryptorchidism, Decreased r... |
ORPHA:96179 |
| Moebius Syndrome |
|
Hand clenching, Clinodactyly, Micrognathia, Lower limb undergrowth, Talipes equinovarus, Short ne... |
OMIM:157900 |
| Short Stature-Craniofacial Anomalies-Genital Hypoplasia Syndrome |
|
Short distal phalanx of finger, Finger syndactyly, Camptodactyly of finger, Arachnodactyly, Ectop... |
ORPHA:2994 |
| Distal Xq28 Microduplication Syndrome |
|
Recurrent upper respiratory tract infections, Clinodactyly, Patent foramen ovale, Metatarsus addu... |
ORPHA:293939 |
| Aminopterin/Methotrexate Embryofetopathy |
|
Mesomelia, Spinal dysraphism, Finger syndactyly, Micromelia, Tetralogy of Fallot, Micrognathia, S... |
ORPHA:1908 |
| Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
|
Congenital diaphragmatic hernia, Ventricular septal defect, Hernia, Atrial septal defect, Patent ... |
ORPHA:2255 |
| Diphallia |
|
Cryptorchidism, Atrial septal defect, Rectoperineal fistula, Anal atresia, Hypospadias, Epispadia... |
ORPHA:227 |
| Greig Cephalopolysyndactyly Syndrome |
|
Broad thumb, Toe syndactyly, Postaxial foot polydactyly, Finger syndactyly, Preaxial hand polydac... |
ORPHA:380 |
| Visceral Myopathy 2 |
|
Barrett esophagus, Gastroesophageal reflux, Intestinal pseudo-obstruction, Volvulus, Megacystis, ... |
OMIM:619350 |
| Becker Nevus Syndrome |
|
Pectus carinatum, Lower limb asymmetry, Micromelia, Supernumerary nipple, Abnormal tibia morpholo... |
ORPHA:64755 |
| Septo-Optic Dysplasia Spectrum |
|
Cryptorchidism, Tracheoesophageal fistula, Esophageal atresia, Anterior pituitary hypoplasia, Hyp... |
ORPHA:3157 |
| Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Enlarged metaphyses, Abnormal ilium morphology, Hypoplasia of the odontoid process, Postaxial foo... |
ORPHA:508533 |
| Kagami-Ogata Syndrome |
|
Thoracic hypoplasia, Bell-shaped thorax, Diastasis recti, Inguinal hernia, Micrognathia, Kyphosco... |
ORPHA:254519 |
| Ulnar-Mammary Syndrome |
|
Hypoplastic scapulae, Short 5th toe, Ventricular septal defect, Absent radius, Anal atresia, Shor... |
OMIM:181450 |
| Orofaciodigital Syndrome Iv |
|
Toe syndactyly, Short tibia, Clinodactyly, Short finger, Hamartoma of tongue, Postaxial polydacty... |
OMIM:258860 |
| Marfanoid Habitus With Situs Inversus |
|
Genu recurvatum, Pectus carinatum, Aortic root aneurysm, Situs inversus totalis, Mitral valve pro... |
OMIM:609008 |
| Neural Tube Defects, Folate-Sensitive |
|
Spinal dysraphism |
OMIM:601634 |
| Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome |
|
Hypoplastic left heart, Micromelia, Cryptorchidism, Ventricular septal defect, Abnormal rib morph... |
ORPHA:2772 |
| Kaposiform Lymphangiomatosis |
|
Hepatosplenomegaly, Abnormal thoracic spine morphology, Abnormal spleen morphology, Abnormal pelv... |
ORPHA:464329 |
| Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Hepatosplenomegaly, Urinary glycosaminoglycan excretion, Heavy proteinuria, Barrel-shaped chest, ... |
ORPHA:505248 |
| Codas Syndrome |
|
Congenital hip dislocation, Abnormal pelvic girdle bone morphology, Hydroureter, Abnormal form of... |
ORPHA:1458 |
| Bardet-Biedl Syndrome 16 |
|
Renal cyst, Stage 5 chronic kidney disease, Renal insufficiency, Polydactyly |
OMIM:615993 |
| Desbuquois Dysplasia 1 |
|
Radial deviation of the 2nd finger, Broad first metatarsal, Talipes equinovarus, Short neck, Pes ... |
OMIM:251450 |
| Developmental And Epileptic Encephalopathy 89 |
|
Narrow chest, Microretrognathia, Talipes equinovarus, Limb undergrowth, Omphalocele, Flexion cont... |
OMIM:619124 |
| Ellis-Van Creveld Syndrome |
|
Pectus carinatum, Narrow chest, Postaxial foot polydactyly, Capitate-hamate fusion, Hypoplastic i... |
OMIM:225500 |
| Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia |
|
Bifid uvula, Recurrent pneumonia, Bilateral cryptorchidism, Ventricular septal defect, Short neck... |
OMIM:300472 |
| Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3 |
|
Thin ribs, Platyspondyly, Metaphyseal irregularity, Multiple joint dislocation, Short femoral nec... |
OMIM:618395 |
| Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Clinodactyly, Hepatosplenomegaly, Joint contracture of the 5th finger, Mitral valve prolapse, Ven... |
OMIM:602782 |
| Mmep Syndrome |
|
Triphalangeal thumb, Cryptorchidism, Split foot, Ventricular septal defect |
ORPHA:3434 |
| Hypoplastic Left Heart Syndrome |
|
Hypoplastic left heart, Mitral atresia, Mitral stenosis, Atrial septal defect, Hypoplastic aortic... |
ORPHA:2248 |
| Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2 |
|
Oral-pharyngeal dysphagia, 11 pairs of ribs, Bicoronal synostosis, Patent foramen ovale, Enamel h... |
OMIM:619184 |
| Heart-Hand Syndrome Type 2 |
|
Asymmetry of the thorax, Aplasia/Hypoplasia of the radius, Abnormal clavicle morphology, Micromel... |
ORPHA:1350 |
| Shprintzen-Goldberg Craniosynostosis Syndrome |
|
Thin ribs, Joint contracture of the hand, Micrognathia, Genu valgum, Cryptorchidism, Mitral valve... |
OMIM:182212 |
| Polydactyly, Preaxial Iii |
|
Triphalangeal thumb, Preaxial polydactyly |
OMIM:174600 |
| Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Platyspondyly, Narrow chest, Cone-shaped epiphysis, Abnormal scapula morphology, Rhizomelic arm s... |
ORPHA:93317 |
| Holzgreve Syndrome |
|
Aplasia/Hypoplasia of the tongue, Abnormally ossified vertebrae, Abnormal morphology of ulna, Han... |
ORPHA:2167 |
| Mesomelic Dysplasia, Nievergelt Type |
|
Mesomelia, Aplasia/Hypoplasia of the radius, Finger syndactyly, Elbow dislocation, Camptodactyly ... |
ORPHA:2633 |
| Arthrogryposis, Distal, Type 12 |
|
Ankle flexion contracture, Absent distal interphalangeal creases, Palmar hyperhidrosis, Thoracic ... |
OMIM:620545 |
| Fibrochondrogenesis 2 |
|
Platyspondyly, Hypoplastic ilia, Metaphyseal cupping, Thoracic hypoplasia, Bell-shaped thorax, Mi... |
OMIM:614524 |
| Acrocallosal Syndrome |
|
Postaxial foot polydactyly, Toe syndactyly, Finger syndactyly, Protruding tongue, Anal atresia, H... |
OMIM:200990 |
| Ramos-Arroyo Syndrome |
|
Patent ductus arteriosus |
OMIM:122430 |
| Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects |
|
Pectus carinatum, Gastroesophageal reflux, Velopharyngeal insufficiency, Tetralogy of Fallot, Int... |
OMIM:614701 |
| Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties |
|
Gastroesophageal reflux, Multiple muscular ventricular septal defects, Micrognathia, Aortic aneur... |
OMIM:620070 |
| Split hand/foot malformation 1 (SHFM1) |
|
Toe syndactyly, Cutaneous finger syndactyly, 2-3 toe syndactyly, Split hand, Cleft palate, Split ... |
DECIPHER:46 |
| Congenital Total Pulmonary Venous Return Anomaly |
|
Hypoplastic left heart, Mixed total anomalous pulmonary venous connection, Atrial situs ambiguous... |
ORPHA:99125 |
| Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion |
|
Ventricular hypertrophy, Abnormal heart morphology, Ventricular septal defect, Bicuspid aortic va... |
ORPHA:284169 |
| Split-Hand/Foot Malformation 2 |
|
Finger syndactyly, Split hand, Short phalanx of finger, Short metacarpal, Split foot |
OMIM:313350 |
| Squamous Cell Carcinoma Of The Anal Canal |
|
Anal stenosis, Intestinal bleeding, Neoplasm of the liver, Neoplasm of the rectum, Anal canal squ... |
ORPHA:424019 |
| Nephropathy-Deafness-Hyperparathyroidism Syndrome |
|
Hypercalcemia, Bone cyst |
ORPHA:2668 |
| Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Hepatomegaly, Hyperactivity, Hypertriglyceridemia |
OMIM:615924 |
| 1Q41Q42 Microdeletion Syndrome |
|
Cryptorchidism, Submucous cleft hard palate, Congenital diaphragmatic hernia, Talipes equinovarus... |
ORPHA:250999 |
| Diamond-Blackfan Anemia 16 |
|
Atrial septal defect, Pulmonic stenosis |
OMIM:617408 |
| Restrictive Dermopathy 1 |
|
Rocker bottom foot, Overtubulated long bones, Increased anterioposterior diameter of thorax, Micr... |
OMIM:275210 |
| Orofaciodigital Syndrome Type 4 |
|
Aplasia/Hypoplasia of the tibia, Finger syndactyly, Abnormal joint morphology, Micrognathia, Peri... |
ORPHA:2753 |
| 7Q31 Microdeletion Syndrome |
|
Enuresis nocturna, Galactosuria, Gastroesophageal reflux, Clinodactyly of the 2nd finger, Promine... |
ORPHA:251061 |
| Congenital Disorder Of Glycosylation, Type Il |
|
Hypoalbuminemia, Failure to thrive, Hypocholesterolemia, Splenomegaly, Atrial septal defect, Hepa... |
OMIM:608776 |
| Mucopolysaccharidosis, Type X |
|
Platyspondyly, Broad clavicles, Aortic valve stenosis, Irregular acetabular roof, Broad ribs, Thi... |
OMIM:619698 |
| Cenani-Lenz Syndrome |
|
High, narrow palate, Synostosis of joints, Toe syndactyly, Synostosis of carpal bones, Abnormal f... |
ORPHA:3258 |
| Aortic Valve Disease 3 |
|
Aortic valve stenosis, Aortic root aneurysm, Bicuspid aortic valve, Atrial septal defect, Ascendi... |
OMIM:618496 |
| Wolcott-Rallison Syndrome |
|
Chronic kidney disease, Renal insufficiency, Lymphocytosis, Iron deficiency anemia, Double outlet... |
ORPHA:1667 |
| Weiss-Kruszka Syndrome |
|
Bicuspid aortic valve, Left ventricular hypertrophy, Dextrotransposition of the great arteries, V... |
OMIM:618619 |
| Chromosome 14Q11-Q22 Deletion Syndrome |
|
Macroglossia, Gastroesophageal reflux, Hip subluxation, Bilateral cryptorchidism, Micrognathia, R... |
OMIM:613457 |
| Khan-Khan-Katsanis Syndrome |
|
Clinodactyly, Lymphopenia, Micrognathia, Neutropenia, Dysphagia, Patent ductus arteriosus after p... |
OMIM:618460 |
| Noonan Syndrome 13 |
|
Gastroesophageal reflux, Lower limb asymmetry, Clinodactyly, Overlapping toe, Micrognathia, Limit... |
OMIM:619087 |
| Spondylometaphyseal Dysplasia, 'Corner Fracture' Type |
|
Abnormal vertebral morphology, Clinodactyly, Hypoplastic iliac wing, Genu valgum, Corner fracture... |
ORPHA:93315 |
| Albers-Schönberg Osteopetrosis |
|
Generalized osteosclerosis, Hypocalcemia |
ORPHA:53 |
| Intellectual Developmental Disorder, Autosomal Recessive 79 |
|
Slender finger, Ventricular septal defect, Pes planus, Short hallux, Long fingers, Clinodactyly o... |
OMIM:620393 |
| Meckel Syndrome, Type 7 |
|
Aortic valve stenosis, Multicystic kidney dysplasia, Postaxial foot polydactyly, Hepatosplenomega... |
OMIM:267010 |
| Aymé-Gripp Syndrome |
|
Reduced arm span, Delayed cranial suture closure, Cryptorchidism, Congenital diaphragmatic hernia... |
ORPHA:1272 |
| Nephronophthisis 14 |
|
Situs inversus totalis |
OMIM:614844 |
| Ssr4-Cdg |
|
Gastroesophageal reflux, Joint dislocation, Horseshoe kidney, Abnormality of the gastrointestinal... |
ORPHA:370927 |
| Campomelia, Cumming Type |
|
Multicystic kidney dysplasia, Clubbing of toes, Micromelia, Abnormally ossified vertebrae, Abnorm... |
ORPHA:1318 |
| Jansen-De Vries Syndrome |
|
Small hand, Gastroesophageal reflux, Ventricular septal defect, Bicuspid aortic valve, Hyperlordo... |
OMIM:617450 |
| 1P36 Deletion Syndrome |
|
Delayed cranial suture closure, Abnormality of the spleen, Cryptorchidism, Abnormal intestine mor... |
ORPHA:1606 |
| Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Craniofacial osteosclerosis, Increased skull ossification, Inappropriate laughter, Hypocalcemia, ... |
OMIM:618476 |
| Loeys-Dietz Syndrome 6 |
|
Ventricular hypertrophy, Abdominal aortic aneurysm, Intervertebral disk degeneration, Congenital ... |
OMIM:619656 |
| Dandy-Walker Malformation With Postaxial Polydactyly |
|
Aortic valve stenosis, Microretrognathia, Vascular dilatation, Postaxial hand polydactyly, Patent... |
OMIM:220220 |
| Restrictive Dermopathy 2 |
|
Gastroesophageal reflux, Microretrognathia, Overtubulated long bones, Short clavicles, Rectal pro... |
OMIM:619793 |
| Variant Abeta2M Amyloidosis |
|
Chronic kidney disease, Arthralgia of the hip, Abnormal vascular morphology, Gastrointestinal inf... |
ORPHA:314652 |
| Noonan Syndrome 1 |
|
Clinodactyly, Micrognathia, Cryptorchidism, Ventricular septal defect, Synovitis, Short neck, Atr... |
OMIM:163950 |
| Occipital Horn Syndrome |
|
Synostosis of joints, Delayed cranial suture closure, Humerus varus, Esophagitis, Genu valgum, Pe... |
ORPHA:198 |
| Hypercalcemia, Infantile, 2 |
|
Hypophosphatemia, Hypercalcemia, Failure to thrive |
OMIM:616963 |
| Familial Aortic Dissection |
|
Descending thoracic aorta aneurysm, Aortic root aneurysm, Aortic dissection, Mucoid extracellular... |
ORPHA:229 |
| Trigonocephaly With Short Stature And Developmental Delay |
|
Lambdoidal craniosynostosis, Inguinal hernia, Ventricular septal defect, Sagittal craniosynostosi... |
OMIM:314320 |
| 19P13.12 Microdeletion Syndrome |
|
Toe clinodactyly, Hypospadias, Arthrogryposis multiplex congenita, Finger syndactyly, Sandal gap,... |
ORPHA:254346 |
| Heterotaxy, Visceral, 11, Autosomal, With Male Infertility |
|
Situs inversus totalis, Primum atrial septal defect, Partial atrioventricular canal defect |
OMIM:619608 |
| Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly |
|
Angel-shaped phalanx, Short distal phalanx of finger, Narrow chest, Sandal gap, Cone-shaped epiph... |
OMIM:617102 |
| Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1 |
|
Aortic valve stenosis, Hypoplastic left heart, Renal hypoplasia, Spinal dysraphism, Bifid uvula, ... |
OMIM:617660 |
| Neurodevelopmental Disorder With Spasticity And Poor Growth |
|
High, narrow palate, Gastroesophageal reflux, Bilateral coxa valga, Vesicoureteral reflux, Knee f... |
OMIM:618076 |
| Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease |
|
Situs inversus totalis, Dextrocardia |
OMIM:613095 |
| Stevenson-Carey Syndrome |
|
Joint contracture of the hand, Gastroesophageal reflux, Left superior vena cava draining to coron... |
OMIM:611961 |
| Achondroplasia |
|
Thoracolumbar kyphosis, Rhizomelia, Hip joint hypermobility, Thoracic hypoplasia, Cervical spinal... |
ORPHA:15 |
| Lethal Hemolytic Anemia-Genital Anomalies Syndrome |
|
Sandal gap, Abnormality of the ureter, Micrognathia, Splenomegaly, Aplasia/Hypoplasia of the lung... |
ORPHA:1046 |
| Renal Agenesis |
|
Unilateral renal agenesis, Ureteral agenesis, Renal insufficiency, Ventricular septal defect, Pro... |
ORPHA:411709 |
| Bladder Exstrophy |
|
Umbilical hernia, Intestinal malrotation, Abnormality of the ureter, Vesicoureteral reflux, Ingui... |
ORPHA:93930 |
| Metaphyseal Dysplasia, Braun-Tinschert Type |
|
Radial bowing, Sclerosis of middle finger phalanx, Broad long bones, Humerus varus, Fibular bowin... |
ORPHA:85188 |
| Combined Oxidative Phosphorylation Deficiency 2 |
|
Brachydactyly, Patent ductus arteriosus |
OMIM:610498 |
| Oligomeganephronia |
|
Unilateral renal agenesis, Secundum atrial septal defect, Bilateral renal hypoplasia, Decreased g... |
ORPHA:2260 |
| Aniridia-Absent Patella Syndrome |
|
Inguinal hernia, Cryptorchidism, Aplasia/Hypoplasia of the patella |
ORPHA:1069 |
| Noonan Syndrome |
|
Pectus carinatum, Juvenile myelomonocytic leukemia, Hypertrophic cardiomyopathy, Abnormality of t... |
ORPHA:648 |
| Ververi-Brady Syndrome |
|
Transposition of the great arteries |
OMIM:617982 |
| Spondylometaphyseal Dysplasia, A4 Type |
|
Platyspondyly, Micromelia, Coxa vara, Flared, irregular rib ends, Short palm |
ORPHA:168555 |
| Orofaciodigital Syndrome Viii |
|
Short tibia, Polydactyly, High palate, Cleft palate, Syndactyly |
OMIM:300484 |
| Infantile-Onset X-Linked Spinal Muscular Atrophy |
|
Ankle flexion contracture, Abnormal anterior horn cell morphology, Interphalangeal joint contract... |
ORPHA:1145 |
| Maturity-Onset Diabetes Of The Young, Type 3 |
|
Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young |
OMIM:600496 |
| Klippel-Feil Syndrome 1, Autosomal Dominant |
|
Unilateral renal agenesis, Cervicomedullary schisis, Cervical C2/C3 vertebral fusion, Short neck,... |
OMIM:118100 |
| Apert Syndrome |
|
Delayed epiphyseal ossification, Lambdoidal craniosynostosis, Broad thumb, Synostosis of carpal b... |
OMIM:101200 |
| 7Q11.23 Microduplication Syndrome |
|
Aortic valve stenosis, Micrognathia, Cryptorchidism, Congenital diaphragmatic hernia, Ventricular... |
ORPHA:96121 |
| Bohring-Opitz Syndrome |
|
Supernumerary nipple, Overlapping toe, Micrognathia, Bilateral cleft palate, Ventricular septal d... |
OMIM:605039 |
| Femur-Fibula-Ulna Complex |
|
Aplasia/Hypoplasia of the radius, Finger syndactyly, Micromelia, Abnormal femur morphology, Humer... |
ORPHA:2019 |
| Congenital Myopathy 11 |
|
Atrial septal defect, Patent ductus arteriosus, Patent foramen ovale |
OMIM:619967 |
| Mosaic Trisomy 20 |
|
Narrow chest, Clinodactyly, Spinal canal stenosis, Horseshoe kidney, Micrognathia, Cryptorchidism... |
ORPHA:1724 |
| Atelis Syndrome 1 |
|
Leukopenia, Ventricular septal defect, Lumbar kyphosis, Atrial septal defect, Thrombocytopenia, A... |
OMIM:620184 |
| Squalene Synthase Deficiency |
|
Failure to thrive in infancy, Hypocholesterolemia, Bicuspid aortic valve, Decreased LDL cholester... |
OMIM:618156 |
| Igg4-Related Aortitis |
|
Abnormal aortic arch morphology, Aortic dissection, Hypereosinophilia, Abnormal common carotid ar... |
ORPHA:449400 |
| Diamond-Blackfan Anemia 10 |
|
Morgagni diaphragmatic hernia, Micrognathia, Congenital diaphragmatic hernia, Macrocytic anemia, ... |
OMIM:613309 |
| C Syndrome |
|
Multicystic kidney dysplasia, Toe syndactyly, Micrognathia, Cryptorchidism, Congenital diaphragma... |
ORPHA:1308 |
| Craniofrontonasal Dysplasia |
|
Abnormal clavicle morphology, Finger syndactyly, Sandal gap, Camptodactyly of finger, Down-slopin... |
ORPHA:1520 |
| Cleft Palate-Congenital Heart Defect-Intellectual Disability Syndrome Due To 15Q14 Microdeletion |
|
Inguinal hernia, Ventricular septal defect, Atrial septal defect, Scoliosis, Kyphosis, Cleft palate |
ORPHA:261190 |
| Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome |
|
Complete atrioventricular canal defect |
ORPHA:476126 |
| Orofaciodigital Syndrome Xi |
|
Postaxial polydactyly, Gastroesophageal reflux, Cleft palate |
OMIM:612913 |
| Synpolydactyly 2 |
|
Toe syndactyly, Carpal synostosis, Polydactyly, Tarsal synostosis, Metatarsal synostosis, Metacar... |
OMIM:608180 |
| Craniorachischisis |
|
Bifid sternum, Spinal dysraphism, Sirenomelia, Cervical spina bifida, Congenital diaphragmatic he... |
ORPHA:63260 |
| Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Protein-losing enteropathy, Narrow chest, Pancreatic lymphangiectasis, Micrognathia, Cryptorchidi... |
OMIM:235255 |
| Hyperparathyroidism 1 |
|
Hypercalcemia |
OMIM:145000 |
| Mesomelia-Synostoses Syndrome |
|
Synostosis of joints, Synostosis of carpal bones, Aplasia/Hypoplasia of the uvula, Abnormal tibia... |
ORPHA:2496 |
| Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Abnormal aortic arch morphology, Arteriovenous malformation, Abnormal hip bone morphology, Overri... |
ORPHA:1110 |
| Burn-Mckeown Syndrome |
|
Bifid uvula, Unilateral renal agenesis, Renal hypoplasia, Micrognathia, Inguinal hernia, Ventricu... |
OMIM:608572 |
| Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
|
Bifid uvula, Broad distal phalanx of finger, Postaxial foot polydactyly, Lower limb asymmetry, In... |
ORPHA:404440 |
| Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Delayed epiphyseal ossification, Enlarged metaphyses, Elbow dislocation, Micrognathia, Cryptorchi... |
OMIM:210710 |
| Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4 |
|
Unilateral renal agenesis, Dilation of Virchow-Robin spaces, Leukemia, Secundum atrial septal def... |
OMIM:619951 |
| Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia |
|
Joint dislocation, Lymphopenia, Leukopenia, Splenomegaly, Ventricular septal defect, Coarctation ... |
OMIM:620210 |
| Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity |
|
Narrow palate, Microretrognathia, Tracheomalacia, Atelectasis, Retinal arterial tortuosity, Crypt... |
OMIM:620371 |
| X-Linked Intellectual Disability, Sutherland-Haan Type |
|
Anal atresia |
ORPHA:93950 |
| Neurooculocardiogenitourinary Syndrome |
|
Bilateral cryptorchidism, Patent foramen ovale, Ventricular septal defect, Cardiomegaly, Atrial s... |
OMIM:618652 |
| Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness |
|
Genu valgum, Broad foot, Carpal bone hypoplasia, Broad phalanx, Metaphyseal dysplasia, Short foot... |
OMIM:250420 |
| Microphthalmia, Syndromic 3 |
|
Butterfly vertebrae, Cryptorchidism, Ventricular septal defect, Rib fusion, Supernumerary ribs, M... |
OMIM:206900 |
| Short-Rib Thoracic Dysplasia 15 With Polydactyly |
|
Narrow chest, Cone-shaped epiphysis, Horseshoe kidney, Atrioventricular canal defect, Horizontal ... |
OMIM:617088 |
| Gm1 Gangliosidosis Type 1 |
|
Platyspondyly, Pectus carinatum, Abnormal odontoid tissue morphology, Cardiomyopathy, Aspiration ... |
ORPHA:79255 |
| Cleidocranial Dysplasia |
|
Hypoplastic scapulae, Micrognathia, Genu valgum, Abnormal metacarpal morphology, Hypoplastic infe... |
ORPHA:1452 |
| Zimmermann-Laband Syndrome 1 |
|
Short distal phalanx of finger, Long penis, Aortic root aneurysm, Gastroesophageal reflux, Cardio... |
OMIM:135500 |
| Trigonocephaly-Short Stature-Developmental Delay Syndrome |
|
Fifth finger distal phalanx clinodactyly, Multiple suture craniosynostosis, Inguinal hernia, Vent... |
ORPHA:3369 |
| Brachydactyly, Type E, With Atrial Septal Defect, Type Ii |
|
Short 4th metacarpal, Type E brachydactyly, Short metatarsal, Atrial septal defect |
OMIM:113301 |
| Transient Neonatal Diabetes Mellitus |
|
Failure to thrive, Maturity-onset diabetes of the young, Abnormal heart morphology, Hyperglycemia... |
ORPHA:99886 |
| German Syndrome |
|
Arthrogryposis multiplex congenita, Camptodactyly of finger, Tetralogy of Fallot, Micrognathia, C... |
ORPHA:2077 |
| Mgat2-Cdg |
|
Gastroesophageal reflux, Kyphosis, Abnormal heart morphology, Ventricular septal defect, Hypoplas... |
ORPHA:79329 |
| Diabetes Mellitus, Permanent Neonatal, 1 |
|
Type I diabetes mellitus, Hyperglycemia, Reduced C-peptide level, Elevated hemoglobin A1c, Diabet... |
OMIM:606176 |
| Fetal Akinesia Deformation Sequence 1 |
|
Thin ribs, Micrognathia, Cryptorchidism, Hip contracture, Talipes equinovarus, Short neck, Elbow ... |
OMIM:208150 |
| Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis |
|
Bifid uvula, Nephrocalcinosis, Broad distal phalanx of finger, Micrognathia, Submucous cleft hard... |
OMIM:300990 |
| Aminopterin Syndrome Sine Aminopterin |
|
Joint contracture of the hand, Clinodactyly, Short thumb, Thoracic scoliosis, Arachnodactyly, Bra... |
OMIM:600325 |
| Hypophosphatasia, Infantile |
|
Platyspondyly, Unossified vertebral bodies, Nephrocalcinosis, Rachitic rosary, Metaphyseal cuppin... |
OMIM:241500 |
| Hypermobile Ehlers-Danlos Syndrome |
|
Aortic root aneurysm, Elbow dislocation, Mitral valve prolapse, Arachnodactyly, Pes planus, Hip d... |
ORPHA:285 |
| Terminal Osseous Dysplasia |
|
Toe clinodactyly, Short toe, Clinodactyly, Camptodactyly of finger, Mesomelic leg shortening, Cam... |
OMIM:300244 |
| Nephronophthisis 16 |
|
Aortic valve stenosis, Nephronophthisis, Hypertrophic cardiomyopathy, Stage 5 chronic kidney dise... |
OMIM:615382 |
| Coffin-Lowry Syndrome |
|
Pes planus, High palate, Short metacarpal, Rectal prolapse, Hyperextensibility of the finger join... |
OMIM:303600 |
| Shwachman-Diamond Syndrome 1 |
|
Persistence of hemoglobin F, Pancytopenia, Irregular ossification at anterior rib ends, Acute mye... |
OMIM:260400 |
| Oculoskeletodental Syndrome |
|
Hypercalcemia, Hypocalcemia |
ORPHA:557003 |
| Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Patchy osteosclerosis, Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia |
OMIM:241410 |
| Doors Syndrome |
|
Equinovarus deformity, Aspiration pneumonia, Adrenal hyperplasia, Lumbar scoliosis, Aplasia/Hypop... |
ORPHA:79500 |
| Bnar Syndrome |
|
Anal stenosis, Abnormal fifth toe morphology, Anteriorly placed anus |
ORPHA:217266 |
| Cardiospondylocarpofacial Syndrome |
|
Carpal synostosis, Congenital diaphragmatic hernia, Ventricular septal defect, Atrial septal defe... |
OMIM:157800 |
| Ogden Syndrome |
|
High, narrow palate, Microretrognathia, Broad hallux, Delayed cranial suture closure, Inguinal he... |
ORPHA:276432 |
| Hunter-Macdonald Syndrome |
|
Epiphyseal dysplasia, Pectus carinatum, Joint contracture of the hand, Hypospadias, Umbilical her... |
OMIM:611962 |
| Baraitser-Winter Syndrome 1 |
|
Aortic valve stenosis, Cryptorchidism, Bicuspid aortic valve, Short neck, Duplication of phalanx ... |
OMIM:243310 |
| Fanconi Anemia, Complementation Group R |
|
Pelvic kidney, Anal atresia, Absent thumb, Radial dysplasia |
OMIM:617244 |
| Oculoskeletodental Syndrome |
|
Splenomegaly, Hypocalcemia, Hepatomegaly, Hypercalcemia, Small for gestational age |
OMIM:618440 |
| Aortic Aneurysm, Familial Thoracic 4 |
|
Aortic dissection, Anterior cerebral artery stenosis, Coronary artery atherosclerosis, Stroke, Po... |
OMIM:132900 |
| Hurler Syndrome |
|
Abnormal vertebral morphology, Abnormal clavicle morphology, Abnormal epiphysis morphology, Cardi... |
ORPHA:93473 |
| Prader-Willi Syndrome Due To Translocation |
|
Small hand, Clinodactyly, Overlapping toe, Micrognathia, Short neck, Pes planus, Anterior pituita... |
ORPHA:177907 |
| Craniofacial Dyssynostosis With Short Stature |
|
Horseshoe kidney, Cryptorchidism, Ventricular septal defect, Hypospadias, Patent ductus arteriosu... |
OMIM:218350 |
| Fanconi Anemia, Complementation Group I |
|
Bone marrow hypocellularity, Renal hypoplasia, Absent thumb, Short 1st metacarpal, Short thumb, H... |
OMIM:609053 |
| Spondylocostal Dysostosis 3, Autosomal Recessive |
|
Slender finger, Hypoplasia of the odontoid process, Contracture of the proximal interphalangeal j... |
OMIM:609813 |
| Silver-Russell Syndrome 3 |
|
Small hand, Elbow contracture, Clinodactyly of the 5th finger, Penoscrotal hypospadias, Antecubit... |
OMIM:616489 |
| Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Cholelithiasis, Renal tubular dysfunction, Double outlet right ventricle, Atrial septal defect, D... |
OMIM:614886 |
| Craniometadiaphyseal Osteosclerosis With Hip Dysplasia |
|
Coarse metaphyseal trabecularization, Sandwich appearance of vertebral bodies, Ectopic anterior p... |
OMIM:620558 |
| Isolated Dandy-Walker Malformation |
|
Tetralogy of Fallot, Cleft palate |
ORPHA:217 |
| Slc35A2-Cdg |
|
Aplasia/hypoplasia involving bones of the extremities, Gastroesophageal reflux, Short tibia, Camp... |
ORPHA:356961 |
| Proximal Symphalangism |
|
Synostosis of carpal bones, Finger syndactyly, Elbow dislocation, Finger clinodactyly, Camptodact... |
ORPHA:3250 |
| Dihydropyrimidinase Deficiency |
|
Elevated urinary thymine level, Elevated urinary dihydrothymine level, Talipes equinovarus, Short... |
OMIM:222748 |
| Ganglioneuroma |
|
Gastrointestinal hemorrhage, Functional intestinal obstruction, Abnormal rectum morphology, Hamar... |
ORPHA:251992 |
| Coffin-Siris Syndrome |
|
Short 5th finger, Recurrent upper respiratory tract infections, Clinodactyly, Aspiration pneumoni... |
ORPHA:1465 |
| Insulin-Like Growth Factor I, Resistance To |
|
Abnormal rib cage morphology, Small hand, Clinodactyly, Sandal gap, Short finger, Radial deviatio... |
OMIM:270450 |
| Aspergillosis |
|
Pneumonia, Abnormality of the vertebral column, Pleural effusion, Abnormal long bone morphology, ... |
ORPHA:1163 |
| Atrial Septal Defect 8 |
|
Atrial septal defect, Anomalous pulmonary venous return |
OMIM:614433 |
| Periventricular Nodular Heterotopia 7 |
|
Microretrognathia, 1-4 toe syndactyly, Contracture of the proximal interphalangeal joint of the 2... |
OMIM:617201 |
| Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome |
|
Ventricular septal defect, Short neck, Pectus excavatum, High palate, Scoliosis, Patent ductus ar... |
ORPHA:52055 |
| Congenital Diaphragmatic Hernia |
|
Intestinal malrotation, Congenital diaphragmatic hernia, Pulmonary hypoplasia |
ORPHA:2140 |
| Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Internally rotated shoulders, Hepatosplenomegaly, Cleft soft palate, Micrognathia, Cryptorchidism... |
OMIM:619503 |
| Short Stature-Micrognathia Syndrome |
|
Rhizomelia, Gastroesophageal reflux, Broad femoral neck, Micrognathia, Cryptorchidism, Ventricula... |
OMIM:617164 |
| Cenani-Lenz Syndactyly Syndrome |
|
Renal hypoplasia, Broad hallux, Radioulnar synostosis, Pulmonic stenosis, Hypoplasia of the radiu... |
OMIM:212780 |
| Trisomy X |
|
Multicystic kidney dysplasia, Clinodactyly of the 5th finger, Ventricular septal defect, Atrial s... |
ORPHA:3375 |
| Ehlers-Danlos Syndrome, Musculocontractural Type, 2 |
|
Persistent open anterior fontanelle, Atrophic scars, Inguinal hernia, Mitral valve prolapse, Pate... |
OMIM:615539 |
| White-Sutton Syndrome |
|
Bifid uvula, Gastroesophageal reflux, Hypoplastic cervical vertebrae, Broad thumb, Micrognathia, ... |
OMIM:616364 |
| Down Syndrome |
|
Narrow palate, Macroglossia, Gastroesophageal reflux, Secundum atrial septal defect, Sandal gap, ... |
ORPHA:870 |
| Coffin-Siris Syndrome 4 |
|
Short 5th finger, Macroglossia, Mitral atresia, Ventricular septal defect, Prominent interphalang... |
OMIM:614609 |
| Brachydactyly, Type B2 |
|
Short distal phalanx of finger, Cutaneous syndactyly of toes, Distal symphalangism of hands, Shor... |
OMIM:611377 |
| Fadd-Related Immunodeficiency |
|
Pulmonary artery atresia, Ventricular septal defect |
ORPHA:306550 |
| Thanatophoric Dysplasia, Type Ii |
|
Small abnormally formed scapulae, Platyspondyly, Narrow chest, Hypoplastic ilia, Micromelia, Flar... |
OMIM:187601 |
| Hamamy Syndrome |
|
Complete atrioventricular canal defect, Atrial septal defect |
OMIM:611174 |
| Kenny-Caffey Syndrome, Type 2 |
|
Hyperphosphatemia, Hypocalcemia, Thickened cortex of long bones, Transient hypophosphatemia, Incr... |
OMIM:127000 |
| Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Aminoaciduria, Gastroesophageal reflux, Cardiomyopathy, Situs inversus totalis, Ventricular septa... |
OMIM:249270 |
| Acromelic Frontonasal Dysostosis |
|
Dilation of Virchow-Robin spaces, Short tibia, Patellar hypoplasia, Preaxial hand polydactyly, Hy... |
OMIM:603671 |
| Intellectual Disability, Buenos-Aires Type |
|
Pectus carinatum, Cuboid-shaped thoracolumbar vertebral bodies, Abnormal pelvic girdle bone morph... |
ORPHA:3079 |
| Mckusick-Kaufman Syndrome |
|
Congenital hip dislocation, Hydroureter, Mesoaxial hand polydactyly, Hydronephrosis, Aganglionic ... |
OMIM:236700 |
| X-Linked Lissencephaly With Abnormal Genitalia |
|
Micrognathia, Cryptorchidism, Ventricular septal defect, Aganglionic megacolon, Hypoplasia of pen... |
ORPHA:452 |
| Gracile Bone Dysplasia |
|
Hypocalcemia, Failure to thrive, Decreased skull ossification |
OMIM:602361 |
| Pseudo-Torch Syndrome 1 |
|
Microretrognathia, Umbilical hernia, Renal insufficiency, Splenomegaly, Patent foramen ovale, Thr... |
OMIM:251290 |
| Ciliary Dyskinesia, Primary, 36, X-Linked |
|
Situs inversus totalis |
OMIM:300991 |
| Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome |
|
Short distal phalanx of finger, Epiphyseal stippling, Talipes equinovarus, Atrophy of the spinal ... |
ORPHA:86822 |
| Klippel-Feil Syndrome 2, Autosomal Recessive |
|
Ventricular septal defect, Cervical C2/C3 vertebral fusion, Scoliosis, Cleft palate, Fused cervic... |
OMIM:214300 |
| Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency |
|
Arthrogryposis-like hand anomaly, Clinodactyly, Umbilical hernia, Abnormal heart morphology, Abno... |
ORPHA:369891 |
| Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome |
|
Short distal phalanx of finger, Broad thumb, Short distal phalanx of the thumb, Short 3rd metacar... |
ORPHA:370010 |
| Mitochondrial Trifunctional Protein Deficiency |
|
Cardiomyopathy, Failure to thrive in infancy, Hypoketotic hypoglycemia, Hypocalcemia, Left ventri... |
ORPHA:746 |
| Chronic Intestinal Pseudoobstruction |
|
Intestinal malrotation, Abnormal intestine morphology, Abnormal platelet morphology, Patent ductu... |
ORPHA:2978 |
| Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities |
|
Pectus carinatum, Recurrent respiratory infections, Delayed cranial suture closure, Hypertrophic ... |
OMIM:619383 |
| Trisomy 12P |
|
Clinodactyly of the 5th finger, Anal atresia, Cleft palate, Large hands |
ORPHA:1699 |
| Cornelia De Lange Syndrome 1 |
|
Micrognathia, Cryptorchidism, Congenital diaphragmatic hernia, Ventricular septal defect, Short n... |
OMIM:122470 |
| Myhre Syndrome |
|
Abnormal penis morphology, Bifid uvula, Platyspondyly, Abnormal epiphysis morphology, Abnormal me... |
ORPHA:2588 |
| Tetraamelia Syndrome 1 |
|
Abnormal clavicle morphology, Abnormal scapula morphology, Micrognathia, Hypoplastic pelvis, Adre... |
OMIM:273395 |
| Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Colonic atresia, Anteriorly placed anus, Single transverse palmar crease, Histiocytoid cardiomyop... |
OMIM:309801 |
| Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect |
|
Aganglionic megacolon, Polysyndactyly of hallux, Preaxial foot polydactyly, Ventricular septal de... |
OMIM:235750 |
| Thoracolaryngopelvic Dysplasia |
|
Hypoplastic iliac wing, Bell-shaped thorax, Hypoplastic pelvis, Horizontal ribs, Short ribs, Meta... |
OMIM:187760 |
| Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects |
|
Secundum atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Left ventricular h... |
OMIM:108900 |
| Arterial Tortuosity Syndrome |
|
Aortic root aneurysm, Esophagitis, Arachnodactyly, Hip dislocation, Gastroesophageal reflux, Hype... |
ORPHA:3342 |
| Chronic Granulomatous Disease |
|
Abnormality of neutrophils, Splenomegaly, Tracheoesophageal fistula, Recurrent respiratory infect... |
ORPHA:379 |
| Chromosome 1P36 Deletion Syndrome, Distal |
|
Aortic root aneurysm, Cryptorchidism, Ventricular septal defect, Bicuspid aortic valve, Atrial se... |
OMIM:607872 |
| Snijders Blok-Campeau Syndrome |
|
Umbilical hernia, Inguinal hernia, Perimembranous ventricular septal defect, Enamel hypoplasia, A... |
OMIM:618205 |
| Desmosterolosis |
|
Bifid uvula, Micromelia, Intestinal malrotation, Micrognathia, Splenomegaly, Submucous cleft hard... |
ORPHA:35107 |
| Kyphomelic Dysplasia |
|
Radial bowing, Micrognathia, Talipes equinovarus, Anterior rib cupping, Flat acetabular roof, Sho... |
OMIM:211350 |
| Ring Chromosome 21 Syndrome |
|
Small hand, Clinodactyly, Abnormal heart morphology, Abnormal thorax morphology, Narrow palm, Syn... |
ORPHA:1445 |
| Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Cardiomegaly, Palmoplantar keratoderma, Syndactyly |
OMIM:613576 |
| Polysyndactyly With Cardiac Malformation |
|
Preaxial hand polydactyly, Ventricular septal defect, Renal cyst, Duplication of phalanx of hallu... |
OMIM:263630 |
| Focal Facial Dermal Dysplasia Type Iii |
|
Anal atresia, Abnormal sacroiliac joint morphology |
ORPHA:1807 |
| Celiac Disease, Susceptibility To, 1 |
|
Type I diabetes mellitus, Rickets, Failure to thrive, Hypocalcemia, Weight loss, Steatorrhea, Ost... |
OMIM:212750 |
| Neu-Laxova Syndrome |
|
Bifid uvula, Arthrogryposis multiplex congenita, Micromelia, Pterygium, Micrognathia, Submucous c... |
ORPHA:2671 |
| Giant Cell Arteritis |
|
Vasculitis, Aortic dissection, Double outlet right ventricle with subpulmonary ventricular septal... |
ORPHA:397 |
| Zechi-Ceide Syndrome |
|
Short distal phalanx of finger, Sandal gap, Abnormal heart morphology, Long foot, Atrial septal d... |
ORPHA:217017 |
| Kapur-Toriello Syndrome |
|
Tetralogy of Fallot, Intestinal malrotation, Ventricular septal defect, Short neck, Hypoplasia of... |
ORPHA:2328 |
| Acromesomelic Dysplasia 4 |
|
Radial bowing, Prominent deltoid tuberosities, Genu valgum, Beaking of vertebral bodies, Broad to... |
OMIM:619636 |
| Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome |
|
Gastroesophageal reflux, Volvulus, Intestinal malrotation, Overlapping toe, Cryptorchidism, Ventr... |
OMIM:616682 |
| Turnpenny-Fry Syndrome |
|
Small hand, Clinodactyly, Overlapping toe, Mitral valve prolapse, Atrial septal defect, Thoracic ... |
OMIM:618371 |
| Al Kaissi Syndrome |
|
High, narrow palate, Small hand, Clinodactyly, Deep palmar crease, Pes planus, Atrial septal defe... |
OMIM:617694 |
| Transaldolase Deficiency |
|
Hepatosplenomegaly, Pancytopenia, Splenomegaly, Patent foramen ovale, Ventricular septal defect, ... |
OMIM:606003 |
| Primary Intestinal Lymphangiectasia |
|
Hypoalbuminemia, Hypomagnesemia, Hypocalcemia, Weight loss, Pericardial effusion, Hypoproteinemia |
ORPHA:90362 |
| Mosaic Variegated Aneuploidy Syndrome 2 |
|
Rhizomelia, Clinodactyly, Abnormal lung lobation, Decreased response to growth hormone stimulatio... |
OMIM:614114 |
| Imperforate Oropharynx-Costovertebral Anomalies Syndrome |
|
Abnormal form of the vertebral bodies, Aplasia/Hypoplasia of the tongue, Long palm, Missing ribs,... |
ORPHA:2759 |
| Craniodiaphyseal Dysplasia |
|
Diaphyseal undertubulation, Abnormal rib morphology |
ORPHA:1513 |
| Waardenburg Syndrome Type 3 |
|
Synostosis of carpal bones, Tracheomalacia, Atelectasis, Camptodactyly of finger, Cutaneous finge... |
ORPHA:896 |
| Smooth Muscle Dysfunction Syndrome |
|
Pulmonary artery dilatation, Dilatation of the cerebral artery, Intestinal malrotation, Aortic ar... |
OMIM:613834 |
| Combined Immunodeficiency-Enteropathy Spectrum |
|
Congenital pulmonary airway malformation, Jejunoileal ulceration, Intestinal malrotation, Autoimm... |
ORPHA:436252 |
| Cardiac Septal Defects With Coarctation Of The Aorta |
|
Coarctation of aorta, Secundum atrial septal defect, Perimembranous ventricular septal defect |
OMIM:212090 |
| Bardet-Biedl Syndrome 9 |
|
Postaxial foot polydactyly, Renal insufficiency, Polydactyly, Postaxial polydactyly, Brachydactyl... |
OMIM:615986 |
| Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Polydactyly, Syndactyly, Ventricular septal defect |
OMIM:602501 |
| Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
|
Thin ribs, Platyspondyly, Metaphyseal cupping of metacarpals, Rhizomelia, Metaphyseal cupping, Di... |
OMIM:300863 |
| Lissencephaly Syndrome, Norman-Roberts Type |
|
Microretrognathia, Patent foramen ovale, Atrial septal defect, Dysphagia, Adducted thumb, Rocker ... |
ORPHA:89844 |
| Umbilical Cord Ulceration-Intestinal Atresia Syndrome |
|
Abnormal tricuspid valve morphology, Abnormal aortic morphology, Ventricular septal defect, Intes... |
ORPHA:3405 |
| Left Ventricular Noncompaction 1 |
|
Hypoplastic left heart, Left ventricular noncompaction, Left ventricular noncompaction cardiomyop... |
OMIM:604169 |
| Nephronophthisis 15 |
|
Nephronophthisis, Polydactyly |
OMIM:614845 |
| Colonic Atresia |
|
Peptic ulcer, Colonic atresia, Duodenal stenosis, Omphalocele, Gastroschisis |
ORPHA:1198 |
| Cerebellar Atrophy, Visual Impairment, And Psychomotor Retardation |
|
Anal atresia, Laryngotracheomalacia, Prominent fingertip pads |
OMIM:616875 |
| Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome |
|
Abnormal form of the vertebral bodies, Sandal gap, Abnormal dental enamel morphology, Sprengel an... |
ORPHA:2180 |
| Ruvalcaba Syndrome |
|
Pectus carinatum, Narrow chest, Small hand, Synostosis of carpal bones, Cone-shaped epiphysis, Mi... |
ORPHA:3121 |
| Anencephaly 2 |
|
Median cleft upper lip, Cleft maxillary alveolar ridge, Anencephaly, Median cleft palate |
OMIM:619452 |
| Spina Bifida-Hypospadias Syndrome |
|
Spinal dysraphism, Spina bifida |
ORPHA:3176 |
| Pseudo-Torch Syndrome 2 |
|
Thin ribs, Secundum atrial septal defect, Pleural effusion, Abnormal renal corticomedullary diffe... |
OMIM:617397 |
| Williams-Beuren Syndrome |
|
Mitral valve prolapse, Ventricular septal defect, Bicuspid aortic valve, Radioulnar synostosis, A... |
OMIM:194050 |
| 19P13.3 Microduplication Syndrome |
|
Gastroesophageal reflux, Clinodactyly, Micrognathia, Pes cavus, Ventricular septal defect, Kyphos... |
ORPHA:447980 |
| Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome |
|
Abnormal rib morphology |
ORPHA:2435 |
| Mucolipidosis Ii Alpha/Beta |
|
Bullet-shaped phalanges of the hand, Atlantoaxial dislocation, Hypoplastic scapulae, Hypoplasia o... |
OMIM:252500 |
| Microphthalmia, Syndromic 1 |
|
Joint contracture of the hand, Clinodactyly, Cryptorchidism, Bicuspid aortic valve, Anal atresia,... |
OMIM:309800 |
| X-Linked Agammaglobulinemia |
|
Weight loss, Hypocalcemia, Failure to thrive |
ORPHA:47 |
| Trisomy 8P |
|
Clinodactyly of the 2nd finger, Overlapping toe, Cryptorchidism, Hernia, Short neck, Dysplastic a... |
ORPHA:264450 |
| Flna-Related X-Linked Myxomatous Valvular Dysplasia |
|
Micrognathia, Mitral valve prolapse, Bicuspid aortic valve, Right atrial enlargement, Pes planus,... |
ORPHA:555877 |
| Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly |
|
Narrow chest, Stage 5 chronic kidney disease, Polydactyly, Brachydactyly, Short long bone |
OMIM:613819 |
| 16P12.1P12.3 Triplication Syndrome |
|
High, narrow palate, Short 5th finger, Prominent fingertip pads, Bilateral cryptorchidism, Decrea... |
ORPHA:485405 |
| Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
|
Gastroesophageal reflux, Annular pancreas, Duodenal atresia, Furrowed tongue, Lumbar hyperlordosi... |
OMIM:616975 |
| Osteogenesis Imperfecta, Type Ii |
|
Thin ribs, Platyspondyly, Abnormal pelvic girdle bone morphology, Thoracic hypoplasia, Broad long... |
OMIM:166210 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type |
|
Pectus carinatum, Gastroesophageal reflux, Prominent fingertip pads, Micrognathia, Mitral valve p... |
OMIM:300986 |
| Atelis Syndrome 2 |
|
Gastroesophageal reflux, Kyphosis, Clinodactyly, Micrognathia, Single transverse palmar crease, P... |
OMIM:620185 |
| Meckel Syndrome, Type 6 |
|
Postaxial foot polydactyly, Horseshoe kidney, Absent gallbladder, Renal cyst, Bilobed right lung,... |
OMIM:612284 |
| Ehlers-Danlos Syndrome, Classic Type, 1 |
|
Aortic root aneurysm, Cigarette-paper scars, Joint dislocation, Umbilical hernia, Bowel diverticu... |
OMIM:130000 |
| Frontonasal Dysplasia 1 |
|
Joint contracture of the hand, Clinodactyly, Radial deviation of finger, Tetralogy of Fallot, Pec... |
OMIM:136760 |
| Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii |
|
Ivory epiphyses, Hypoplastic scapulae, Radial bowing, Moyamoya phenomenon, Hypoplastic iliac wing... |
OMIM:210720 |
| 15Q11.2 Microdeletion Syndrome |
|
Total anomalous pulmonary venous return, Abnormal heart morphology, Tetralogy of Fallot, Ventricu... |
ORPHA:261183 |
| Short Stature, Developmental Delay, And Congenital Heart Defects |
|
Patent ductus arteriosus, Atrial septal defect, Patent foramen ovale, Ventricular septal defect |
OMIM:617044 |
| Paternal Uniparental Disomy Of Chromosome 5 |
|
Secundum atrial septal defect, Rhizomelic arm shortening, Kyphoscoliosis, Short lower limbs, Abno... |
ORPHA:96190 |
| Hurler Syndrome |
|
Hypoplasia of the odontoid process, Hepatosplenomegaly, Urinary glycosaminoglycan excretion, Endo... |
OMIM:607014 |
| Al-Gazali-Bakalinova Syndrome |
|
Epiphyseal dysplasia, Pectus carinatum, Clinodactyly, Genu valgum, Polydactyly, Flattened epiphys... |
OMIM:607131 |
| Colchicine Poisoning |
|
Hypomagnesemia, Hypocalcemia, Hypokalemia, Hyponatremia, Hypophosphatemia, Myocarditis, Abnormal ... |
ORPHA:31824 |
| Chromosome 16P13.3 Duplication Syndrome |
|
Micrognathia, Cryptorchidism, Ventricular septal defect, Short neck, Atrial septal defect, Small ... |
OMIM:613458 |
| Mucopolysaccharidosis, Type Ii |
|
Recurrent pneumonia, Intestinal pseudo-obstruction, Umbilical hernia, Abnormal heart valve morpho... |
OMIM:309900 |
| Beaulieu-Boycott-Innes Syndrome |
|
Unilateral renal agenesis, Velopharyngeal insufficiency, Horseshoe kidney, Micrognathia, Ventricu... |
OMIM:613680 |
| Abdominal Obesity-Metabolic Syndrome 3 |
|
Coronary artery stenosis, Hyperglycemia, Increased LDL cholesterol concentration, Type II diabete... |
OMIM:615812 |
| Familial Isolated Hypoparathyroidism |
|
Hypocalcemia |
ORPHA:2238 |
| Lateral Meningocele Syndrome |
|
High, narrow palate, Dural ectasia, Abnormal form of the vertebral bodies, Umbilical hernia, Micr... |
ORPHA:2789 |
| Phelan-Mcdermid Syndrome |
|
Cellulitis, Gastroesophageal reflux, Micrognathia, Vesicoureteral reflux, Ventricular septal defe... |
OMIM:606232 |
| Tetraamelia Syndrome 2 |
|
Ankyloglossia, Bilateral lung agenesis, Ventricular septal defect, Hypoplastic pulmonary veins, M... |
OMIM:618021 |
| Larsen-Like Syndrome, Lethal Type |
|
Tracheomalacia, Pulmonary hypoplasia |
OMIM:245650 |
| Short Stature And Facioauriculothoracic Malformations |
|
Pectus carinatum, Cervical ribs, Abnormal odontoid process morphology, Ventricular septal defect,... |
OMIM:609654 |
| Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome |
|
Renal hypoplasia, Ventricular septal defect, Pulmonary artery stenosis, Abnormality of the anteri... |
ORPHA:75389 |
| Ifap Syndrome 1, With Or Without Bresheck Syndrome |
|
Unilateral renal agenesis, Recurrent upper respiratory tract infections, Hydromyelia, Multicystic... |
OMIM:308205 |
| Dahlberg-Borer-Newcomer Syndrome |
|
Hypocalcemia, Mitral valve prolapse |
ORPHA:1563 |
| Congenital-Onset Steinert Myotonic Dystrophy |
|
Gastroesophageal reflux, Enuresis, Talipes, Abnormal cardiac septum morphology, Scoliosis, Dyspha... |
ORPHA:589821 |
| Peutz-Jeghers Syndrome |
|
Intestinal bleeding, Gastrointestinal carcinoma, Clubbing of fingers, Abnormality of the ureter, ... |
OMIM:175200 |
| Aortic Aneurysm, Familial Thoracic 10 |
|
Dural ectasia, Aortic root aneurysm, Aortic arch aneurysm, Abdominal aortic aneurysm, Coronary ar... |
OMIM:617168 |
| Diamond-Blackfan Anemia |
|
Macrocytic dyserythropoietic anemia, Persistence of hemoglobin F, Cleft soft palate, Micrognathia... |
ORPHA:124 |
| Arterial Tortuosity Syndrome |
|
Aortic valve stenosis, Pectus carinatum, Bifid uvula, Ventricular hypertrophy, Aortic root aneury... |
OMIM:208050 |
| Ciliary Dyskinesia, Primary, 48, Without Situs Inversus |
|
Situs inversus totalis |
OMIM:620032 |
| Autosomal Dominant Spastic Paraplegia Type 29 |
|
Hiatus hernia, Abnormal rectum morphology, Pes cavus, Hernia |
ORPHA:101009 |
| Spondylospinal Thoracic Dysostosis |
|
Micrognathia, Multiple pterygia, Short thorax, Arthrogryposis multiplex congenita, Pulmonary hypo... |
OMIM:601809 |
| Degcags Syndrome |
|
Chronic kidney disease, Toe syndactyly, Oral-pharyngeal dysphagia, Hepatosplenomegaly, Pancytopen... |
OMIM:619488 |
| Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome |
|
Camptodactyly of finger, Abnormal pleura morphology, Micrognathia, Multiple joint contractures, S... |
ORPHA:2570 |
| Kleefstra Syndrome |
|
Supernumerary nipple, Cryptorchidism, Ventricular septal defect, Hernia, Bicuspid aortic valve, T... |
ORPHA:261494 |
| Microcephaly-Capillary Malformation Syndrome |
|
Short distal phalanx of finger, Clinodactyly, Vesicoureteral reflux, Patent foramen ovale, Ventri... |
OMIM:614261 |
| Peters Plus Syndrome |
|
Multicystic kidney dysplasia, Toe syndactyly, Micrognathia, Cryptorchidism, Short neck, Anal atre... |
ORPHA:709 |
| Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Protein-losing enteropathy, Narrow chest, Pancreatic lymphangiectasis, Hepatosplenomegaly, Microg... |
ORPHA:1655 |
| Kaufman Oculocerebrofacial Syndrome |
|
Congenital hip dislocation, Intestinal malrotation, Bell-shaped thorax, Micrognathia, Single tran... |
OMIM:244450 |
| Noonan Syndrome 7 |
|
Pectus carinatum, Hypertrophic cardiomyopathy, Cubitus valgus, Abnormal esophagus morphology, Sho... |
OMIM:613706 |
| Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome |
|
Narrow chest, Hypoplastic scapulae, Rhizomelia, Micromelia, Micrognathia, Femoral bowing, Dumbbel... |
ORPHA:440354 |
| Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Hypertrophic cardiomyopathy, Cardiomegaly, Perimembranous ventricular septal defect, Atrial septa... |
OMIM:620135 |
| Noonan Syndrome-Like Disorder With Loose Anagen Hair 2 |
|
Pectus carinatum, Peripheral pulmonary artery stenosis, Bifid uvula, Aortic root aneurysm, Hypert... |
OMIM:617506 |
| Alagille Syndrome 2 |
|
Renal hypoplasia, Peripheral pulmonary artery stenosis, Tetralogy of Fallot, Renal insufficiency,... |
OMIM:610205 |
| Osteogenesis Imperfecta, Type Ix |
|
Platyspondyly, Pectus carinatum, Dentinogenesis imperfecta, Multiple rib fractures, Wormian bones... |
OMIM:259440 |
| Juvenile Nephropathic Cystinosis |
|
Hypouricemia, Polydipsia, Failure to thrive, Glycosuria, Elevated circulating creatinine concentr... |
ORPHA:411634 |
| Distal 7Q11.23 Microduplication Syndrome |
|
Aortic aneurysm, Congenital diaphragmatic hernia, Cryptorchidism, Patent ductus arteriosus |
ORPHA:261102 |
| Neurodevelopmental Disorder With Poor Growth, Large Ears, And Dysmorphic Facies |
|
Pectus carinatum, Broad thumb, Secundum atrial septal defect, Clinodactyly, Long hallux, Microgna... |
OMIM:620194 |
| Neuronal Intestinal Pseudoobstruction |
|
Congenital diaphragmatic hernia, Patent ductus arteriosus, Abnormal cardiac septum morphology |
ORPHA:99811 |
| Pseudohypoparathyroidism Type 1C |
|
Ectopic ossification, Hyperphosphatemia, Hypocalcemic tetany, Obesity, Hypocalcemia, Polyphagia, ... |
ORPHA:79444 |
| Auriculocondylar Syndrome 2B |
|
Long penis, Micrognathia, Abnormality of the cervical spine, Mandibular condyle hypoplasia, Ompha... |
OMIM:620458 |
| Robinow Syndrome, Autosomal Recessive 1 |
|
Bifid distal phalanx of toe, Small hand, Broad thumb, Clinodactyly, Radial bowing, Thoracic hemiv... |
OMIM:268310 |
| Hartsfield Syndrome |
|
Aplasia/Hypoplasia of the radius, Non-midline cleft of the upper lip, Intrauterine growth retarda... |
ORPHA:2117 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
High, narrow palate, Gastroesophageal reflux, Kyphosis, Synostosis of the proximal phalanx of the... |
OMIM:300967 |
| Hydrocephaly-Low Insertion Umbilicus Syndrome |
|
Tetralogy of Fallot, Abnormal thorax morphology, Hernia of the abdominal wall, Patent ductus arte... |
ORPHA:2184 |
| Fixed Subaortic Stenosis |
|
Bacterial endocarditis, Abnormal heart morphology, Atrioventricular canal defect, Ventricular sep... |
ORPHA:3092 |
| Exstrophy-Epispadias Complex |
|
Abnormality of the ureter, Abnormality of the abdominal wall, Urinary incontinence, Anal atresia,... |
ORPHA:322 |
| Syndromic Diarrhea |
|
Renal hypoplasia, Peripheral pulmonary artery stenosis, Tetralogy of Fallot, Lymphopenia, Abnorma... |
ORPHA:84064 |
| Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency |
|
Mitral valve prolapse, Talipes equinovarus, Pes planus, Patellar dislocation, Thoracic kyphoscoli... |
ORPHA:1900 |
| Bardet-Biedl Syndrome 2 |
|
Dilated cardiomyopathy, Postaxial foot polydactyly, Bicuspid aortic valve, Atrial septal defect, ... |
OMIM:615981 |
| Atrial Septal Defect 1 |
|
Aortic valve stenosis, Secundum atrial septal defect, Tetralogy of Fallot with pulmonary atresia,... |
OMIM:108800 |
| Weismann-Netter Syndrome |
|
Fibular bowing, Lateral femoral bowing, Horizontal sacrum, Squared iliac bones, Scoliosis, Kyphos... |
OMIM:112350 |
| Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies |
|
Arteria lusoria, Anteriorly placed anus, Supernumerary nipple, Delayed cranial suture closure, Ti... |
OMIM:618653 |
| Hardikar Syndrome |
|
Hepatosplenomegaly, Hypersplenism, Cleft soft palate, Bilateral cleft palate, Ventricular septal ... |
OMIM:301068 |
| Renpenning Syndrome 1 |
|
Joint contracture of the hand, Renal hypoplasia, Synostosis of the proximal phalanx of the thumb ... |
OMIM:309500 |
| Basal Cell Nevus Syndrome 1 |
|
Palmar pits, Short distal phalanx of the thumb, Cardiac rhabdomyoma, Sprengel anomaly, Plantar pi... |
OMIM:109400 |
| Diabetes Mellitus, Transient Neonatal, 1 |
|
Transient neonatal diabetes mellitus, Severe failure to thrive, Hyperglycemia |
OMIM:601410 |
| 46,Xx Sex Reversal 5 |
|
Hypoplastic left heart, Secundum atrial septal defect, Ventricular septal defect, Urogenital sinu... |
OMIM:618901 |
| Distal 22Q11.2 Microduplication Syndrome |
|
Unilateral renal agenesis, Toe syndactyly, Camptodactyly of finger, Micrognathia, Cryptorchidism,... |
ORPHA:261337 |
| Congenital Disorder Of Glycosylation, Type Iiaa |
|
Unilateral renal agenesis, Narrow chest, Knee flexion contracture, Patent ductus arteriosus after... |
OMIM:620454 |
| Familial Isolated Hyperparathyroidism |
|
Generalized osteoporosis, Osteopenia, Hypophosphatemia, Hypercalcemia |
ORPHA:99879 |
| Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome |
|
Unilateral renal agenesis, Total anomalous pulmonary venous return, Clinodactyly, Abnormal sternu... |
ORPHA:487796 |
| 9Q21.13 Microdeletion Syndrome |
|
Abnormal tongue morphology, Abnormal heart morphology, Polydactyly, Hydronephrosis, Gastrointesti... |
ORPHA:531151 |
| Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities |
|
Osteopenia, Hypocalcemia, Splenomegaly, Hypokalemia, Hyponatremia, Calcinosis, Dysphagia |
OMIM:617913 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type |
|
Broad thumb, Hyperextensibility of the finger joints, Micrognathia, Ventricular septal defect, Ar... |
OMIM:309520 |
| Tumoral Calcinosis, Hyperphosphatemic, Familial, 3 |
|
Osteopenia, Hyperphosphatemia, Polydipsia, Metacarpal periosteal thickening, Calvarial osteoscler... |
OMIM:617994 |
| Osteopetrosis, Autosomal Recessive 5 |
|
Cranial hyperostosis, Hepatosplenomegaly, Hyperbilirubinemia, Splenomegaly, Hypocalcemia, Osteope... |
OMIM:259720 |
| Fraser Syndrome 2 |
|
Unilateral renal agenesis, Renal hypoplasia, Ureteral agenesis, Intestinal malrotation, Cutaneous... |
OMIM:617666 |
| Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome |
|
Broad thumb, Umbilical hernia, Abnormality of the ureter, Bilateral single transverse palmar crea... |
ORPHA:1770 |
| Axin2-Related Attenuated Familial Adenomatous Polyposis |
|
Colon cancer, Neoplasm of the rectum, Colorectal polyposis, Adenomatous colonic polyposis |
ORPHA:401911 |
| Short Stature-Deafness-Neutrophil Dysfunction-Dysmorphism Syndrome |
|
Ectopic anus |
ORPHA:2866 |
| Diarrhea 10, Protein-Losing Enteropathy Type |
|
Hypoalbuminemia, Hypomagnesemia, Hypocalcemia, Hyponatremia, Hypertriglyceridemia, Pericardial ef... |
OMIM:618183 |
| Hypomandibular Faciocranial Dysostosis |
|
Bifid uvula, Aplasia/Hypoplasia of the tongue, Tracheal stenosis, Abnormal tracheobronchial morph... |
ORPHA:1790 |
| Williams-Beuren Region Duplication Syndrome |
|
Unilateral renal agenesis, Decreased response to growth hormone stimulation test, Micrognathia, C... |
OMIM:609757 |
| Imagawa-Matsumoto Syndrome |
|
Camptodactyly, Anteriorly placed anus, Clinodactyly, Large hands |
OMIM:618786 |
| Oncogenic Osteomalacia |
|
Hypophosphatemia, Fibrous dysplasia of the bones, Hypocalcemia |
ORPHA:352540 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type |
|
Attention deficit hyperactivity disorder, Hyperactivity, Impulsivity |
OMIM:301008 |
| Microcephalic Primordial Dwarfism, Toriello Type |
|
Abnormal epiphysis morphology, Enamel hypoplasia, Brachydactyly, Neutropenia, Abnormal rib morpho... |
ORPHA:2643 |
| Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked |
|
Congenital shortened small intestine, Pyloric stenosis, Intestinal pseudo-obstruction, Intestinal... |
OMIM:300048 |
| Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome |
|
Hematochezia, Diffuse alveolar hemorrhage, Gastrointestinal hemorrhage, Melena, Abnormal vascular... |
ORPHA:464321 |
| Maturity-Onset Diabetes Of The Young, Type 13 |
|
Maturity-onset diabetes of the young, Hyperglycemia, Reduced C-peptide level, Maternal diabetes, ... |
OMIM:616329 |
| Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
|
Congenital hip dislocation, Supernumerary nipple, Abnormal heart morphology, Submucous cleft hard... |
ORPHA:457279 |
| Musculocontractural Ehlers-Danlos Syndrome |
|
Atlantoaxial dislocation, Recurrent joint dislocation, Cryptorchidism, High palate, Slender finge... |
ORPHA:2953 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Dilated cardiomyopathy, Transposition of the great arteries, Atrial septal defect, Pulmonic steno... |
OMIM:253800 |
| Arboleda-Tham Syndrome |
|
Enlarged proximal interphalangeal joints, Genu valgum, Ventricular septal defect, Pes planus, Sho... |
OMIM:616268 |
| Cornelia De Lange Syndrome 6 |
|
Pectus carinatum, Gastroesophageal reflux, Short 1st metacarpal, Atrioventricular canal defect, C... |
OMIM:620568 |
| Generalized Pustular Psoriasis |
|
Hypoalbuminemia, Obesity, Hypocalcemia, Hyponatremia, Elevated circulating C-reactive protein con... |
ORPHA:247353 |
| Adams-Oliver Syndrome 5 |
|
Umbilical hernia, Hypersplenism, Inguinal hernia, Splenomegaly, Patent foramen ovale, Pulmonic st... |
OMIM:616028 |
| Heart And Brain Malformation Syndrome |
|
Interrupted aortic arch, High, narrow palate, Hand clenching, Gastroesophageal reflux, Camptodact... |
OMIM:616920 |
| Lethal Recessive Chondrodysplasia |
|
Narrow chest, Micromelia, Micrognathia, Flared elbow metaphyses, Limb undergrowth, Short long bon... |
ORPHA:1423 |
| Grant Syndrome |
|
Abnormality of the glenoid fossa, Narrow chest, Abnormal pelvic girdle bone morphology, Joint dis... |
ORPHA:2097 |
| Proximal Spinal Muscular Atrophy |
|
Gastroesophageal reflux, Absent patellar reflexes, Distal upper limb muscle weakness, Flexion con... |
ORPHA:70 |
| Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures |
|
Clinodactyly of the 5th finger, Syndactyly, Tapered finger |
OMIM:618725 |
| Kabuki Syndrome 1 |
|
Abnormal vertebral morphology, Anoperineal fistula, Micrognathia, Cryptorchidism, Ventricular sep... |
OMIM:147920 |
| Tibial Hemimelia |
|
Aplasia of the 2nd metacarpal, Short tibia, Radial club hand, Cutaneous finger syndactyly, Crypto... |
ORPHA:93322 |
| Tall Stature-Intellectual Disability-Renal Anomalies Syndrome |
|
Multicystic kidney dysplasia, Long hallux, Mitral valve prolapse, Ventricular septal defect, Tali... |
ORPHA:500095 |
| Craniosynostosis, Philadelphia Type |
|
Finger syndactyly |
ORPHA:1527 |
| Spondylocarpotarsal Synostosis Syndrome |
|
Epiphyseal dysplasia, Hypoplasia of the odontoid process, Carpal synostosis, C2-C3 subluxation, T... |
OMIM:272460 |
| Loeys-Dietz Syndrome |
|
Arterial dissection, Pectus carinatum, Bifid uvula, Atypical scarring of skin, Joint dislocation,... |
ORPHA:60030 |
| Peters-Plus Syndrome |
|
Square pelvis bone, Micrognathia, Cryptorchidism, Broad foot, Ventricular septal defect, Limited ... |
OMIM:261540 |
| Genetic Recurrent Myoglobinuria |
|
Hyperkalemia, Hyperphosphatemia, Hypocalcemia, Highly elevated creatine kinase |
ORPHA:99845 |
| Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2 |
|
Prune belly, Microcolon, Anuria, Megacystis, Ileal atresia, Pyelonephritis, Bronchomalacia, Thora... |
OMIM:619351 |
| Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies |
|
Osteopenia, Hypercalcemia, Craniosynostosis |
OMIM:614732 |
| Cholera |
|
Hypoglycemia, Hypocalcemia, Hypokalemia, Hyponatremia, Abnormal blood ion concentration |
ORPHA:173 |
| Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome |
|
Aortic valve stenosis, Small hand, Micrognathia, Inguinal hernia, Bilateral single transverse pal... |
ORPHA:459061 |
| 20P12.3 Microdeletion Syndrome |
|
Pectus carinatum, Broad thumb, Atrial septal defect, Broad hallux phalanx |
ORPHA:261295 |
| Achondrogenesis, Type Ib |
|
Hypoplastic ilia, Narrow chest, Micromelia, Umbilical hernia, Absent or minimally ossified verteb... |
OMIM:600972 |
| Homocystinuria Due To Cystathionine Beta-Synthase Deficiency |
|
Homocystinuria, Pectus carinatum, Inguinal hernia, Biconcave vertebral bodies, Kyphoscoliosis, St... |
OMIM:236200 |
| Currarino Syndrome |
|
Anal stenosis, Horseshoe kidney, Vesicoureteral reflux, Anal fistula, Perianal abscess, Neurogeni... |
OMIM:176450 |
| Nephrotic Syndrome, Type 11 |
|
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Dilated cardiomyopathy, Cl... |
OMIM:616730 |
| Sclerosteosis |
|
Curved distal phalanges of the hand, Finger syndactyly, Diaphyseal undertubulation, 2-3 finger sy... |
ORPHA:3152 |
| Cystic Fibrosis |
|
Cor pulmonale, Recurrent pneumonia, Meconium ileus, Clubbing of fingers, Hepatosplenomegaly, Ileu... |
OMIM:219700 |
| Keutel Syndrome |
|
Short distal phalanx of finger, Recurrent sinusitis, Ventricular septal defect, Tracheal atresia,... |
ORPHA:85202 |
| Hand-Foot-Genital Syndrome |
|
Short distal phalanx of finger, Shortening of all middle phalanges of the fingers, Abnormality of... |
ORPHA:2438 |
| X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability |
|
Small hand, Overlapping toe, Abnormality of the abdominal wall, Thoracolumbar scoliosis, Atrial s... |
ORPHA:480880 |
| Schinzel-Giedion Midface Retraction Syndrome |
|
Aplasia/Hypoplasia of the pubic bone, Talipes equinovarus, Hepatoblastoma, Short neck, Atrial sep... |
OMIM:269150 |
| Matthew-Wood Syndrome |
|
Renal hypoplasia, Annular pancreas, Duodenal stenosis, Horseshoe kidney, Vesicoureteral reflux, C... |
ORPHA:2470 |
| Orofaciodigital Syndrome Ii |
|
Postaxial foot polydactyly, Lobulated tongue, Flared metaphysis, Preaxial hand polydactyly, Preax... |
OMIM:252100 |
| Acro-Renal-Ocular Syndrome |
|
Toe syndactyly, Short distal phalanx of the thumb, Finger syndactyly, Radial club hand, Talipes, ... |
ORPHA:959 |
| Bruck Syndrome 2 |
|
Platyspondyly, Pectus carinatum, Hydroxyprolinuria, Elbow flexion contracture, Pterygium, Femoral... |
OMIM:609220 |
| Thrombocytopenia 8, With Dysmorphic Features And Developmental Delay |
|
Platelet anisocytosis, Umbilical hernia, Overlapping toe, Prominent metopic ridge, Thrombocytopen... |
OMIM:620475 |
| Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections |
|
Recurrent pneumonia, Micrognathia, Recurrent sinusitis, Eosinophilia, Atrial septal defect, High ... |
OMIM:618282 |
| Hamel Cerebro-Palato-Cardiac Syndrome |
|
Arachnodactyly, Micrognathia, Atrial septal defect, Cleft palate |
ORPHA:93946 |
| 10Q22.3Q23.3 Microdeletion Syndrome |
|
Microretrognathia, Breast aplasia, Atrioventricular canal defect, Intestinal polyposis, Arachnoda... |
ORPHA:276413 |
| Acrofacial Dysostosis, Cincinnati Type |
|
Biventricular hypertrophy, Micrognathia, Cryptorchidism, Ventricular septal defect, Bicuspid aort... |
OMIM:616462 |
| Lymphedema-Distichiasis Syndrome |
|
Cellulitis, Chylothorax, Kyphosis, Tetralogy of Fallot, Micrognathia, Ventricular septal defect, ... |
OMIM:153400 |
| Cerebrofacioarticular Syndrome |
|
Renal hypoplasia, Anal stenosis, Caudal appendage, Tracheomalacia, Anteriorly placed anus, Abnorm... |
ORPHA:314679 |
| Mucopolysaccharidosis Type 1 |
|
Joint dislocation, Abnormal form of the vertebral bodies, Abnormal epiphysis morphology, Spinal c... |
ORPHA:579 |
| Brachyolmia Type 3 |
|
Platyspondyly, Radial deviation of finger, Clinodactyly, Short femoral neck, Proximal femoral met... |
OMIM:113500 |
| Phenylketonuria |
|
Self-mutilation, Aggressive behavior, Attention deficit hyperactivity disorder, Maternal hyperphe... |
OMIM:261600 |
| Occipital Horn Syndrome |
|
Genu valgum, Pes planus, High palate, Broad clavicles, Pectus carinatum, Ureteral obstruction, Li... |
OMIM:304150 |
| Osteogenesis Imperfecta, Type V |
|
Platyspondyly, Dentinogenesis imperfecta, Abnormal pelvic girdle bone morphology, Vertebral wedgi... |
OMIM:610967 |
| Neurodevelopmental Disorder With Or Without Autism Or Seizures |
|
Bifid uvula, Absent thumb, Submucous cleft hard palate, Atrial septal defect, Pulmonic stenosis |
OMIM:619239 |
| Global Developmental Delay-Visual Anomalies-Progressive Cerebellar Atrophy-Truncal Hypotonia Syndrome |
|
Anal atresia, Laryngotracheomalacia, Prominent fingertip pads |
ORPHA:480898 |
| Meckel Syndrome, Type 11 |
|
Polycystic kidney dysplasia, Polydactyly |
OMIM:615397 |
| Adams-Oliver Syndrome |
|
Short distal phalanx of finger, Gastrointestinal hemorrhage, Arteriovenous malformation, Finger s... |
ORPHA:974 |
| Dysosteosclerosis |
|
Absent paranasal sinuses, Micrognathia, Increased intervertebral space, Absent frontal sinuses, D... |
OMIM:224300 |
| Cdags Syndrome |
|
Rectourethral fistula, Short ribs, Short clavicles, Anal atresia, Rectovaginal fistula, Hypospadi... |
OMIM:603116 |
| Satb2-Associated Syndrome Due To A Chromosomal Rearrangement |
|
Small hand, Broad thumb, Micrognathia, Cryptorchidism, Ventricular septal defect, Talipes equinov... |
ORPHA:251028 |
| Monosomy 5P |
|
Small hand, Finger syndactyly, High palate |
ORPHA:281 |
| Parathyroid Carcinoma |
|
Hypercalcemia |
OMIM:608266 |
| Microphthalmia, Isolated 4 |
|
Postaxial polydactyly |
OMIM:613094 |
| Cardiofacioneurodevelopmental Syndrome |
|
Atrioventricular canal defect, Micrognathia, Clinodactyly of the 5th finger, Cryptorchidism, Vent... |
OMIM:619123 |
| Tyshchenko Syndrome |
|
High, narrow palate, Narrow palate, Ventricular septal defect, Atrial septal defect, High palate,... |
OMIM:615102 |
| Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome |
|
Equinovarus deformity, Short femoral neck, Flared metaphysis, Short palm, Broad foot, Aplasia/Hyp... |
ORPHA:2502 |
| Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Clinodactyly, Cryptorchidism, Protruding tongue, Ventricular septal defect, Absent frontal sinuse... |
OMIM:301040 |
| Radiation Proctitis |
|
Hematochezia, Arteritis, Abnormal vascular morphology, Abnormality of connective tissue, Abnormal... |
ORPHA:70475 |
| Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome |
|
Horseshoe kidney, Micrognathia, Inguinal hernia, Cryptorchidism, Ventricular septal defect, Renal... |
ORPHA:166035 |
| Hypophosphatasia |
|
Failure to thrive in infancy, Craniosynostosis, Hypercalcemia |
ORPHA:436 |
| Cohen Syndrome |
|
High, narrow palate, Finger syndactyly, Aplasia/Hypoplasia of the tongue, Sandal gap, Abnormal hi... |
ORPHA:193 |
| Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal |
|
Hepatomegaly, Hypocholesterolemia, Hypertrophic cardiomyopathy |
OMIM:618810 |
| Granulomatous Slack Skin |
|
Hypercalcemia |
ORPHA:33111 |
| Leopard Syndrome 1 |
|
Hypertrophic cardiomyopathy, Complete atrioventricular canal defect, Mitral valve prolapse, Subva... |
OMIM:151100 |
| Spondyloocular Syndrome |
|
Platyspondyly, Pectus carinatum, Overlapping toe, Vertebral compression fracture, Mitral valve pr... |
OMIM:605822 |
| Orofaciodigital Syndrome Type 5 |
|
High, narrow palate, Bifid uvula, Ectopic accessory finger-like appendage, Postaxial foot polydac... |
ORPHA:2919 |
| Diffuse Neonatal Hemangiomatosis |
|
Hepatomegaly, Hypercalcemia |
ORPHA:2123 |
| Laurin-Sandrow Syndrome |
|
Toe syndactyly, Finger syndactyly, Mirror image polydactyly, Preaxial hand polydactyly, Limb dupl... |
ORPHA:2378 |
| Ctcf-Related Neurodevelopmental Disorder |
|
Gastroesophageal reflux, Prominent fingertip pads, Sandal gap, Sacral dimple, Pulmonary hemorrhag... |
ORPHA:363611 |
| Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Interrupted aortic arch, Gastroesophageal reflux, Short femur, Methylmalonic aciduria, Hypertroph... |
ORPHA:17 |
| Gm1-Gangliosidosis, Type I |
|
Dilated cardiomyopathy, Cherry red spot of the macula, Hypertrophic cardiomyopathy, Abnormal hear... |
OMIM:230500 |
| Yunis-Varon Syndrome |
|
Aplasia of the distal phalanx of the hallux, Micrognathia, Cryptorchidism, Ventricular septal def... |
ORPHA:3472 |
| Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly |
|
Renal hypoplasia, Narrow chest, Short iliac bones, Rhizomelia, Thoracic dysplasia, Supernumerary ... |
OMIM:614376 |
| Diabetes Mellitus, Transient Neonatal, 3 |
|
Hyperglycemia, Transient neonatal diabetes mellitus, Reduced C-peptide level, Maternal diabetes, ... |
OMIM:610582 |
| X-Linked Intellectual Disability, Armfield Type |
|
Aminoaciduria, Galactosuria, Small hand, Organic aciduria, Micrognathia, Limited elbow extension,... |
ORPHA:85276 |
| Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15 |
|
Clinodactyly of the 5th finger, High palate, Upper limb asymmetry, Polydactyly |
ORPHA:231140 |
| Lambert Syndrome |
|
Hypospadias, Inguinal hernia, Ventricular septal defect |
ORPHA:1296 |
| Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Dilated cardiomyopathy, Hypoketotic hypoglycemia, Hyperammonemia, Elevated circulating creatine k... |
OMIM:600649 |
| Radio-Renal Syndrome |
|
High, narrow palate, Multicystic kidney dysplasia, Chylothorax, Abnormal form of the vertebral bo... |
ORPHA:3015 |
| Gaucher Disease, Perinatal Lethal |
|
Arthrogryposis multiplex congenita, Thoracic hypoplasia, Hepatosplenomegaly, Micrognathia, Spleno... |
OMIM:608013 |
| Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Accessory spleen, Renal hypoplasia, Severe B lymphocytopenia, Small hand, Delayed cranial suture ... |
OMIM:620005 |
| Joubert Syndrome 20 |
|
Postaxial polydactyly, Renal cyst, 4-5 toe syndactyly |
OMIM:614970 |
| Orofaciodigital Syndrome Xiv |
|
Microretrognathia, Broad hallux, Anteriorly placed anus, Preaxial polydactyly, Hamartoma of tongu... |
OMIM:615948 |
| Meckel Syndrome, Type 4 |
|
Ventricular septal defect, Bowing of the long bones, Renal cyst, Atrial septal defect, Postaxial ... |
OMIM:611134 |
| Mucolipidosis Iii Alpha/Beta |
|
Shallow acetabular fossae, Cardiomyopathy, Broad ribs, Irregular carpal bones, Spondylolisthesis,... |
OMIM:252600 |
| Acrodysostosis |
|
Cryptorchidism, Bowing of the long bones, Abnormal metacarpal morphology, Abnormal morphology of ... |
ORPHA:950 |
| Teebi-Shaltout Syndrome |
|
High, narrow palate, Pectus carinatum, Aortic valve stenosis, Caudal appendage, Ureteral stenosis... |
OMIM:272950 |
| Diprosopus |
|
Anencephaly, Non-midline cleft of the upper lip, Cleft palate |
ORPHA:1681 |
| Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type |
|
Bifid uvula, Ectopic thyroid, Camptodactyly of finger, Atrioventricular canal defect, Micrognathi... |
ORPHA:3047 |
| Opitz Gbbb Syndrome |
|
Gastroesophageal reflux, Rectourethral fistula, Vesicoureteral reflux, Ventricular septal defect,... |
OMIM:300000 |
| Pseudohypoparathyroidism Type 1A |
|
Ectopic ossification, Hyperphosphatemia, Hypocalcemic tetany, Obesity, Hypocalcemia, Polyphagia, ... |
ORPHA:79443 |
| Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections |
|
Pulmonary cyst, Eosinophilic infiltration of the esophagus, High palate, Duodenal ulcer, Dysphagi... |
OMIM:147060 |
| Hypomandibular Faciocranial Dysostosis |
|
Coronal craniosynostosis, Aglossia, Micrognathia, Atrial septal defect, Patent ductus arteriosus |
OMIM:241310 |
| Chromosome 17Q12 Duplication Syndrome |
|
Broad thumb, Cleft soft palate, Micrognathia, Esophageal atresia, Atrial septal defect, Brachydac... |
OMIM:614526 |
| Fraser Syndrome 1 |
|
Renal hypoplasia, Aplasia/Hypoplasia of the sternum, Abnormal heart morphology, Cutaneous finger ... |
OMIM:219000 |
| Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Increased mean corpuscular volume, Extramedullary hematopoiesis, Sideroblastic anemia, Erythroid ... |
OMIM:617021 |
| King-Denborough Syndrome |
|
Bilateral cryptorchidism, Lumbar hyperlordosis, Cryptorchidism, Kyphoscoliosis, Ventricular septa... |
OMIM:619542 |
| Spondylometaphyseal Dysplasia, Pagnamenta Type |
|
Platyspondyly, Rhizomelia, Broad thumb, Short 5th metacarpal, Femoral bowing, Wormian bones, Shor... |
OMIM:619638 |
| Cutis Laxa, Autosomal Recessive, Type Iic |
|
Hand clenching, Biventricular hypertrophy, Overlapping toe, Reduced subcutaneous adipose tissue, ... |
OMIM:617402 |
| Ossification Anomalies-Psychomotor Developmental Delay Syndrome |
|
Thin ribs, Short 5th finger, Narrow chest, Gastroesophageal reflux, Short distal phalanx of finge... |
ORPHA:73230 |
| Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum |
|
Bifid uvula, Gastroesophageal reflux, Tethered cord, Atrioventricular canal defect, Coarctation o... |
OMIM:619480 |
| Intellectual Developmental Disorder, Autosomal Dominant 4 |
|
Short toe, Syndactyly |
OMIM:612581 |
| Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies |
|
Clinodactyly of the 5th finger, Rocker bottom foot, Ventricular septal defect |
OMIM:618506 |
| Congenital Heart Block |
|
Endocardial fibroelastosis, Pleural effusion, Patent foramen ovale, Pericardial effusion, Patent ... |
ORPHA:60041 |
| Shprintzen-Goldberg Syndrome |
|
Elbow dislocation, Micrognathia, Genu valgum, Cryptorchidism, Mitral valve prolapse, Arachnodacty... |
ORPHA:2462 |
| Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1 |
|
Arthropathy, Wormian bones, Osteolytic defects of the phalanges of the hand, Palmoplantar hyperke... |
OMIM:259100 |
| Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria |
|
Hypercalcemia, Failure to thrive |
OMIM:239199 |
| Chondrodysplasia Punctata 2, X-Linked Dominant |
|
Abnormal pelvic girdle bone morphology, Rhizomelia, Tracheal calcification, Tracheal stenosis, Ab... |
OMIM:302960 |
| Neuroleptic Malignant Syndrome |
|
Hyperphosphatemia, Hypernatremia, Hypomagnesemia, Hypocalcemia, Hyperuricemia, Elevated circulati... |
ORPHA:94093 |
| Hypercalcemia, Infantile, 1 |
|
Weight loss, Hypercalcemia, Failure to thrive |
OMIM:143880 |
| Osteoglophonic Dysplasia |
|
Hypoplastic scapulae, Broad thumb, Cryptorchidism, Broad foot, Bowing of the long bones, Chordee,... |
OMIM:166250 |
| Grange Syndrome |
|
Finger clinodactyly, Coronary artery stenosis, Renal artery stenosis, Bicuspid aortic valve, Caro... |
OMIM:602531 |
| Ring Chromosome 12 Syndrome |
|
High, narrow palate, Symphalangism of the thumb, Secundum atrial septal defect, Clinodactyly, Gla... |
ORPHA:1439 |
| Kleefstra Syndrome 1 |
|
Gastroesophageal reflux, Tracheobronchomalacia, Conotruncal defect, Cryptorchidism, Protruding to... |
OMIM:610253 |
| Microphthalmia With Linear Skin Defects Syndrome |
|
Abnormal penis morphology, Dilated cardiomyopathy, Sacral dimple, Abnormal rectum morphology, Abn... |
ORPHA:2556 |
| 17Q24.2 Microdeletion Syndrome |
|
Broad thumb, Abnormality of the ankle, Upper limb undergrowth, Abnormality of the wrist, Microgna... |
ORPHA:529962 |
| Solitary Rectal Ulcer Syndrome |
|
Hematochezia, Stercoral ulcer, Anal fissure, Anemia, Rectal prolapse |
ORPHA:209964 |
| Sponastrime Dysplasia |
|
Delayed epiphyseal ossification, Shallow acetabular fossae, Genu valgum, Broad foot, Pes planus, ... |
ORPHA:93357 |
| Rubinstein-Taybi Syndrome 2 |
|
Narrow palate, Broad thumb, Prominent fingertip pads, Short 5th toe, Broad hallux, Intestinal mal... |
OMIM:613684 |
| Coffin-Siris Syndrome 5 |
|
Arachnodactyly, Short distal phalanx of finger, Sandal gap, Atrial septal defect |
OMIM:616938 |
| Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome |
|
Abnormal pelvic girdle bone morphology, Ulnar deviation of finger, Micromelia, Camptodactyly of f... |
ORPHA:2928 |
| Fatco Syndrome |
|
Finger syndactyly, Abnormal tibia morphology, Absent hand, Split hand, Abnormal fibula morphology... |
ORPHA:2492 |
| Pseudoaminopterin Syndrome |
|
Synostosis of carpal bones, Overlapping toe, Micrognathia, Cryptorchidism, Limited elbow movement... |
ORPHA:221120 |
| Osteogenesis Imperfecta, Type Xiii |
|
Enuresis nocturna, Pectus carinatum, Platyspondyly, Dentinogenesis imperfecta, Umbilical hernia, ... |
OMIM:614856 |
| Sanjad-Sakati Syndrome |
|
Patchy osteosclerosis, Hyperphosphatemia, Hypocalcemia |
ORPHA:2323 |
| Transaldolase Deficiency |
|
Biventricular hypertrophy, Coarctation of aorta, Atrial septal defect |
ORPHA:101028 |
| Kbg Syndrome |
|
Finger clinodactyly, Cervical ribs, Single transverse palmar crease, Cutaneous syndactyly, Congen... |
ORPHA:2332 |
| Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Platyspondyly, Ivory epiphyses, Hypoplastic ilia, Metaphyseal irregularity, Rhizomelia, Abnormal ... |
ORPHA:85167 |
| Cutis Laxa, Autosomal Recessive, Type Iid |
|
Bilateral cryptorchidism, Hypertrophic cardiomyopathy, Reduced subcutaneous adipose tissue, Ingui... |
OMIM:617403 |
| Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome |
|
Palmoplantar keratoderma, Short thumb, Finger syndactyly, Camptodactyly of finger, Triphalangeal ... |
ORPHA:2251 |
| Brachydactyly, Coloboma, And Anterior Segment Dysgenesis |
|
Brachydactyly, Clinodactyly, Syndactyly |
OMIM:610023 |
| Schwartz-Jampel Syndrome |
|
Elbow dislocation, Abnormality of the ureter, Micrognathia, Genu valgum, Hip contracture, Bowing ... |
ORPHA:800 |
| Spondyloenchondrodysplasia |
|
Pneumonia, Chronic kidney disease, Pectus carinatum, Vasculitis, Platyspondyly, Hypoplastic ilia,... |
ORPHA:1855 |
| Bardet-Biedl Syndrome 22 |
|
Postaxial foot polydactyly, Polydactyly |
OMIM:617119 |
| Kabuki Syndrome 2 |
|
Short 5th finger, Prominent fingertip pads, Horseshoe kidney, Atrioventricular canal defect, Micr... |
OMIM:300867 |
| Meckel Syndrome, Type 10 |
|
Bifid uvula, Postaxial foot polydactyly, Postaxial polydactyly, Renal cyst, Micropenis, Ulnar dev... |
OMIM:614175 |
| Cerebrocostomandibular Syndrome |
|
Posterior rib gap, Multicystic kidney dysplasia, Tracheomalacia, Bell-shaped thorax, Micrognathia... |
ORPHA:1393 |
| Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Abnormal vertebral morphology, Hypoplastic scapulae, Elevated circulating luteinizing hormone lev... |
ORPHA:95699 |
| Pseudohypoparathyroidism, Type Ia |
|
Hyperphosphatemia, Hypocalcemic tetany, Obesity, Subcutaneous ossification, Osteoporosis |
OMIM:103580 |
| Summitt Syndrome |
|
Finger syndactyly, Camptodactyly of finger, Genu valgum, Short 4th metacarpal, Brachydactyly, Cli... |
ORPHA:3210 |
| Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy |
|
Platyspondyly, Metaphyseal irregularity, Rhizomelia, Metaphyseal cupping, Flared metaphysis, Shor... |
OMIM:608940 |
| Cranioectodermal Dysplasia |
|
Short distal phalanx of finger, Rhizomelia, Narrow chest, Finger syndactyly, Abnormal diaphysis m... |
ORPHA:1515 |
| Opsismodysplasia |
|
Renal phosphate wasting, Hypoplasia of the odontoid process, Bell-shaped thorax, Short neck, Ante... |
OMIM:258480 |
| Pfeiffer Syndrome |
|
Shortening of all middle phalanges of the fingers, Broad thumb, 3-4 toe cutaneous syndactyly, Fin... |
OMIM:101600 |
| Lenz-Majewski Hyperostotic Dwarfism |
|
Delayed cranial suture closure, Prominent scalp veins, Cutaneous finger syndactyly, Micrognathia,... |
OMIM:151050 |
| Aniridia And Absent Patella |
|
Aplasia/Hypoplasia of the patella |
OMIM:106220 |
| Frontoocular Syndrome |
|
Coronal craniosynostosis, Micrognathia, Atrial septal defect, Pectus excavatum, High palate, Pulm... |
OMIM:605321 |
| Dysosteosclerosis |
|
Platyspondyly, Coarse metaphyseal trabecularization, Abnormal dental enamel morphology, Ventricul... |
ORPHA:1782 |
| Tetrasomy 12P |
|
Abnormal soft palate morphology, Anal atresia |
ORPHA:884 |
| Limb-Mammary Syndrome |
|
Bifid uvula, Joint contracture of the hand, Hallux valgus, Split hand, Camptodactyly, Cleft palat... |
OMIM:603543 |
| Rhizomelic Chondrodysplasia Punctata |
|
Rhizomelia, Abnormal epiphysis morphology, Epiphyseal stippling, Abnormal metaphysis morphology, ... |
ORPHA:177 |
| Mucopolysaccharidosis Type 2, Severe Form |
|
Abnormal vertebral morphology, Hepatosplenomegaly, Abnormal mitral valve morphology, Diaphyseal u... |
ORPHA:217085 |
| Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
|
Grade III vesicoureteral reflux, Cryptorchidism, Ventricular septal defect, Urethral stricture, C... |
OMIM:619522 |
| Mucopolysaccharidosis, Type Iiia |
|
Recurrent upper respiratory tract infections, Umbilical hernia, Heparan sulfate excretion in urin... |
OMIM:252900 |
| Gitelman Syndrome |
|
Insulin resistance, Hypermagnesemia, Type I diabetes mellitus, Polydipsia, Failure to thrive, Hyp... |
ORPHA:358 |
| Cardiofaciocutaneous Syndrome 3 |
|
Hypertrophic cardiomyopathy, Ventricular septal defect, Atrial septal defect, Scoliosis, Pulmonic... |
OMIM:615279 |
| Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Inflammation of the large intestine, Micrognathia, Gastrointestinal angiodysplasia, Genu valgum, ... |
ORPHA:99413 |
| Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome |
|
Dilated cardiomyopathy, Hypomagnesemia, Hyperaldosteronism, Hypocalcemic tetany, Hypocalcemia, Pe... |
ORPHA:73224 |
| Mosaic Monosomy X |
|
Inflammation of the large intestine, Micrognathia, Gastrointestinal angiodysplasia, Genu valgum, ... |
ORPHA:99228 |
| Monosomy X |
|
Inflammation of the large intestine, Micrognathia, Gastrointestinal angiodysplasia, Genu valgum, ... |
ORPHA:99226 |
| Turner Syndrome |
|
Inflammation of the large intestine, Micrognathia, Gastrointestinal angiodysplasia, Genu valgum, ... |
ORPHA:881 |
| Combined Oxidative Phosphorylation Deficiency 10 |
|
Failure to thrive, Hypoglycemia, Hypertrophic cardiomyopathy, Hyperammonemia, Cardiomegaly, Hyper... |
OMIM:614702 |
| Dyssegmental Dysplasia, Rolland-Desbuquois Type |
|
Narrow chest, Joint contracture of the hand, Micromelia, Equinovarus deformity, Broad long bones,... |
OMIM:224400 |
| Tatton-Brown-Rahman Syndrome |
|
Umbilical hernia, Talipes valgus, Vesicoureteral reflux, Ventricular septal defect, Patellar subl... |
OMIM:615879 |
| Charlie M Syndrome |
|
Finger syndactyly, Abnormal metacarpal morphology, Triphalangeal thumb, Split hand, Brachydactyly |
ORPHA:1406 |
| X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Thin ribs, Platyspondyly, Metaphyseal cupping of metacarpals, Rhizomelia, Abnormality of the calc... |
ORPHA:163966 |
| Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Hypoalbuminemia, Type I diabetes mellitus, Hypomagnesemia, Failure to thrive in infancy, Hypocalc... |
ORPHA:37042 |
| Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities |
|
Bifid uvula, Secundum atrial septal defect, Hypertrophic cardiomyopathy, Proximal placement of th... |
OMIM:619121 |
| Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome |
|
Aplastic clavicle, Abnormal clavicle morphology, Ectopic anus, Anal atresia, Short thorax, Tarsal... |
ORPHA:85199 |
| Noonan Syndrome 3 |
|
Pectus carinatum, Juvenile myelomonocytic leukemia, Hypertrophic cardiomyopathy, Cryptorchidism, ... |
OMIM:609942 |
| Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
|
Abnormal vertebral morphology, Platyspondyly, Hydroureter, Abnormality of the vertebral column, E... |
ORPHA:2273 |
| Chylomicron Retention Disease |
|
Steatorrhea, Hypocholesterolemia, Failure to thrive |
ORPHA:71 |
| Fanconi Anemia, Complementation Group Q |
|
Esophageal atresia, Absent thumb, Primum atrial septal defect, Anteriorly placed anus |
OMIM:615272 |
| Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures |
|
Short distal phalanx of finger, Renal hypoplasia, Gastroesophageal reflux, Tethered cord, Pseudoh... |
OMIM:617157 |
| Houge-Janssens Syndrome 3 |
|
Umbilical hernia, Muscular ventricular septal defect, Inguinal hernia, Atrial septal defect, High... |
OMIM:618354 |
| Multiple Pterygium-Malignant Hyperthermia Syndrome |
|
Ulnar deviation of finger, Arthrogryposis multiplex congenita, Finger syndactyly, Camptodactyly o... |
ORPHA:2215 |
| Warsaw Breakage Syndrome |
|
Tetralogy of Fallot, Single transverse palmar crease, Ventricular septal defect, 2-3 toe syndacty... |
OMIM:613398 |
| Multiple Synostoses Syndrome 1 |
|
Carpal synostosis, Cutaneous finger syndactyly, Proximal/middle symphalangism of 5th toe, Lower l... |
OMIM:186500 |
| Cutis Marmorata Telangiectatica Congenita |
|
Multicystic kidney dysplasia, Toe syndactyly, Arteriovenous malformation, Finger syndactyly, Arte... |
ORPHA:1556 |
| Filippi Syndrome |
|
2-4 toe syndactyly, Finger clinodactyly, Cryptorchidism, Single transverse palmar crease, Ventric... |
OMIM:272440 |
| Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome |
|
Bilateral triphalangeal thumbs, Short distal phalanx of finger, Micrognathia, Atrial septal defec... |
OMIM:619356 |
| Maternal Uniparental Disomy Of Chromosome 4 |
|
Type I diabetes mellitus, Hypocholesterolemia, Abetalipoproteinemia, Decreased body weight, Eleva... |
ORPHA:96180 |
| Joubert Syndrome 16 |
|
Renal cyst, Nephronophthisis, Polydactyly |
OMIM:614465 |
| Mucopolysaccharidosis Type 2, Attenuated Form |
|
Abnormal vertebral morphology, Hepatosplenomegaly, Abnormal mitral valve morphology, Diaphyseal u... |
ORPHA:217093 |
| Ciliary Dyskinesia, Primary, 35 |
|
Abdominal situs ambiguus, Situs inversus totalis |
OMIM:617092 |
| Endosteal Hyperostosis, Autosomal Dominant |
|
Sclerotic vertebral body, Metatarsal diaphyseal endosteal sclerosis, Abnormal pelvic girdle bone ... |
OMIM:144750 |
| Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome |
|
Postaxial hand polydactyly, Abnormal cardiac septum morphology, Ventricular septal defect |
ORPHA:83473 |
| Lethal Congenital Contracture Syndrome 9 |
|
Axillary pterygium, Joint contracture of the hand, Congenital contracture, Arthrogryposis multipl... |
OMIM:616503 |
| Cog1-Cdg |
|
Posterior rib gap, Rhizomelia, Hepatosplenomegaly, Micrognathia, Butterfly vertebrae, Vertebral s... |
ORPHA:263508 |
| Spinal Arteriovenous Metameric Syndrome |
|
Arteriovenous malformation, Cutaneous angiolipomas, Urinary bladder sphincter dysfunction, Spinal... |
ORPHA:53721 |
| Rere-Related Neurodevelopmental Syndrome |
|
Hypospadias, Gastroesophageal reflux, Abnormal heart morphology, Micrognathia, Vesicoureteral ref... |
ORPHA:494344 |
| Immunodeficiency, Developmental Delay, And Hypohomocysteinemia |
|
Recurrent lower respiratory tract infections, Bicuspid aortic valve, Atrial septal defect |
OMIM:617744 |
| Mucolipidosis Type Ii |
|
Hepatosplenomegaly, Hip contracture, Abnormal mitral valve morphology, Talipes equinovarus, Restr... |
ORPHA:576 |
| Rothmund-Thomson Syndrome |
|
Aplasia/Hypoplasia of the radius, Aplastic anemia, Short thumb, Abnormal dental enamel morphology... |
ORPHA:2909 |
| Hypomelanosis Of Ito |
|
Radial deviation of finger, Hand polydactyly, Clinodactyly, Syndactyly |
OMIM:300337 |
| Ehlers-Danlos Syndrome, Musculocontractural Type, 1 |
|
Delayed cranial suture closure, Cryptorchidism, Mitral valve prolapse, Arachnodactyly, Talipes eq... |
OMIM:601776 |
| Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome |
|
Renal insufficiency, Abnormal metaphysis morphology, Abnormal aortic valve morphology, Proteinuri... |
ORPHA:86818 |
| Wolf-Hirschhorn Syndrome |
|
Micrognathia, Cryptorchidism, Ventricular septal defect, Talipes equinovarus, Radioulnar synostos... |
OMIM:194190 |
| Coronary Arterial Fistula |
|
Aortic valve stenosis, Bacterial endocarditis, Right ventricular dilatation, Abnormal heart morph... |
ORPHA:2041 |
| Mucopolysaccharidosis, Type Iiid |
|
Epiphyseal dysplasia, Recurrent upper respiratory tract infections, Asymmetric septal hypertrophy... |
OMIM:252940 |
| Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
|
Lambdoidal craniosynostosis, Exaggerated median tongue furrow, Intestinal pseudo-obstruction, Sup... |
ORPHA:453504 |
| Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2 |
|
Aortic rupture, Atlantoaxial instability, Umbilical hernia, Atrophic scars, Cleft soft palate, In... |
OMIM:614557 |
| Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Lymphopenia, Inguinal hernia, Aganglionic megacolon, Long fibula, Anemia, Pectus excavatum, Recur... |
ORPHA:935 |
| Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
|
Lambdoidal craniosynostosis, Exaggerated median tongue furrow, Intestinal pseudo-obstruction, Sup... |
ORPHA:352665 |
| Juvenile Polyposis Syndrome |
|
Hematochezia, Intussusception, Duodenal adenocarcinoma, Multiple gastric polyps, Clubbing, Anemia... |
OMIM:174900 |
| Hydrolethalus Syndrome 2 |
|
Postaxial foot polydactyly, Preaxial foot polydactyly, Hydrocephalus, Postaxial hand polydactyly,... |
OMIM:614120 |
| Genitourinary And/Or Brain Malformation Syndrome |
|
Ileal atresia, Streak ovary, Micrognathia, Cryptorchidism, Jejunal atresia, Kyphoscoliosis, Chord... |
OMIM:618820 |
| Curry-Jones Syndrome |
|
Broad thumb, Toe syndactyly, Finger syndactyly, Preaxial hand polydactyly, Intestinal malrotation... |
ORPHA:1553 |
| Spondylometaphyseal Dysplasia, Algerian Type |
|
Platyspondyly, Hypoplasia of proximal radius, Short tubular bones of the hand, Flared femoral met... |
OMIM:184253 |
| Noonan Syndrome 4 |
|
Abnormal sternum morphology, Hypertrophic cardiomyopathy, Cryptorchidism, Pectus excavatum of inf... |
OMIM:610733 |
| Hypophosphatemic Rickets With Hypercalciuria, Hereditary |
|
Renal phosphate wasting, Calcium nephrolithiasis, Delayed epiphyseal ossification, Bulging epiphy... |
OMIM:241530 |
| Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Stroke, Atrial septal defect, Ventricular septal defect |
ORPHA:49827 |
| Laurence-Moon Syndrome |
|
Finger syndactyly, Renal insufficiency, Bilateral single transverse palmar creases, Displacement ... |
ORPHA:2377 |
| Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities |
|
Clinodactyly, Arachnodactyly, Syndactyly, Pectus excavatum, Thoracic kyphosis |
OMIM:619092 |
| Sotos Syndrome |
|
Abnormal vertebral morphology, Small cell lung carcinoma, Cryptorchidism, Hip contracture, Ventri... |
ORPHA:821 |
| Knobloch Syndrome |
|
Bifid ureter, Vesicoureteral reflux, Dextrocardia, Patent ductus arteriosus, Pyloric stenosis |
ORPHA:1571 |
| Combined Oxidative Phosphorylation Deficiency 41 |
|
Cardiomegaly, Decreased circulating cortisol level, Hypoglycemia, Elevated circulating creatine k... |
OMIM:618838 |
| Aortic Valve Disease 2 |
|
Aortic valve stenosis, Calcification of the aorta, Patent foramen ovale, Bicuspid aortic valve, C... |
OMIM:614823 |
| Temtamy Preaxial Brachydactyly Syndrome |
|
Clinodactyly, Carpal synostosis, Radioulnar synostosis, Brachydactyly, Short metatarsal, Hitchhik... |
OMIM:605282 |
| Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly |
|
Patent foramen ovale, Kyphoscoliosis, Single transverse palmar crease, Hyposegmentation of neutro... |
OMIM:620075 |
| Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Gastroesophageal reflux, Pes cavus, Abnormal medullary pyramid morphology, Ventricular septal def... |
ORPHA:79243 |
| Hereditary Orotic Aciduria |
|
Aminoaciduria, Oroticaciduria, Abnormality of the ureter, Splenomegaly, Orotic acid crystalluria,... |
ORPHA:30 |
| Oculoauriculofrontonasal Syndrome |
|
Micrognathia, Pericallosal lipoma, Ventricular septal defect, Scoliosis, Cleft palate |
ORPHA:398156 |
| Autosomal Dominant Hypocalcemia |
|
Reduced bone mineral density, Hyperphosphatemia, Hypocalcemia, Hypomagnesemia |
ORPHA:428 |
| Developmental And Epileptic Encephalopathy 102 |
|
Gastroesophageal reflux, Situs inversus totalis, Atrial septal defect |
OMIM:619881 |
| Noonan Syndrome 11 |
|
Hypertrophic cardiomyopathy, Palmoplantar cutis laxa, Atrial septal defect, Pectus excavatum, Pul... |
OMIM:618499 |
| Cerebellar Vermis Aplasia With Associated Features Suggesting Smith-Lemli-Opitz Syndrome And Meckel Syndrome |
|
Postaxial polydactyly |
OMIM:213010 |
| Congenital Tufting Enteropathy |
|
Abnormal large intestinal mucosa morphology, Villous atrophy, Abnormal small intestinal mucosa mo... |
ORPHA:92050 |
| Epiphyseal Dysplasia-Hearing Loss-Dysmorphism Syndrome |
|
Abnormality of the wrist, Abnormal thumb morphology, Finger syndactyly, Proximal placement of thumb |
ORPHA:1825 |
| Cardiofaciocutaneous Syndrome |
|
Palmoplantar keratoderma, Hypertrophic cardiomyopathy, Functional abnormality of the gastrointest... |
ORPHA:1340 |
| Severe X-Linked Intellectual Disability, Gustavson Type |
|
Congenital hip dislocation, Recurrent upper respiratory tract infections, Contractures of the lar... |
ORPHA:3078 |
| Three M Syndrome 2 |
|
Thin ribs, Pectus carinatum, Short 5th finger, Clinodactyly, Slender long bone, Lumbar hyperlordo... |
OMIM:612921 |
| Late-Onset Isolated Acth Deficiency |
|
Type I diabetes mellitus, Failure to thrive, Hypoglycemia, Hyperuricemia, Hyponatremia, Decreased... |
ORPHA:199299 |
| Neurocardiofaciodigital Syndrome |
|
Tetralogy of Fallot, Vesicoureteral reflux, Polydactyly, Atrial septal defect, Double inlet left ... |
OMIM:619869 |
| Meckel Syndrome, Type 3 |
|
Multicystic kidney dysplasia, Postaxial foot polydactyly, Polydactyly, Postaxial hand polydactyly... |
OMIM:607361 |
| 2Q37 Microdeletion Syndrome |
|
Small hand, Toe syndactyly, Multicystic kidney dysplasia, Finger syndactyly, Tracheomalacia, Abno... |
ORPHA:1001 |
| Koolen-De Vries Syndrome Due To A Point Mutation |
|
Cryptorchidism, Hand muscle atrophy, Ventricular septal defect, Arachnodactyly, Bicuspid aortic v... |
ORPHA:363965 |
| 17Q21.31 Microdeletion Syndrome |
|
Cryptorchidism, Hand muscle atrophy, Ventricular septal defect, Arachnodactyly, Bicuspid aortic v... |
ORPHA:363958 |
| Harrod Syndrome |
|
Multicystic kidney dysplasia, Abnormal pelvic girdle bone morphology, Abnormal shoulder morpholog... |
ORPHA:2115 |
| Chilton-Okur-Chung Neurodevelopmental Syndrome |
|
Ankyloglossia, Micrognathia, Cryptorchidism, Broad foot, Chordee, Pes planus, Anterior pituitary ... |
OMIM:619841 |
| Mucopolysaccharidosis, Type Iiic |
|
Recurrent upper respiratory tract infections, Heparan sulfate excretion in urine, Splenomegaly, T... |
OMIM:252930 |
| Lymphatic Malformation 6 |
|
Cellulitis, Prune belly, Gastroesophageal reflux, Chylothorax, Intestinal lymphangiectasia, Micro... |
OMIM:616843 |
| Hyperphosphatasia With Impaired Intellectual Development Syndrome 3 |
|
Anal stenosis, Aganglionic megacolon, Atrial septal defect, Shortening of all distal phalanges of... |
OMIM:614207 |
| Lipodystrophy, Familial Partial, Type 1 |
|
Hepatomegaly, Hyperglycemia, Insulin-resistant diabetes mellitus, Hypertriglyceridemia |
OMIM:608600 |
| Pearson Syndrome |
|
Glycosuria, Cardiomyopathy, Hypomagnesemia, Abnormal heart morphology, Hypocalcemia, Splenomegaly... |
ORPHA:699 |
| Orofaciodigital Syndrome Type 14 |
|
Postaxial foot polydactyly, Microretrognathia, Broad hallux, Bilateral cryptorchidism, Hamartoma ... |
ORPHA:434179 |
| Hyperproinsulinemia |
|
Hyperglycemia, Hyperinsulinemia |
OMIM:616214 |
| Osteogenesis Imperfecta, Type Vii |
|
Dentinogenesis imperfecta, Narrow chest, Rhizomelia, Micromelia, Absent pulmonary artery, Delayed... |
OMIM:610682 |
| Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency |
|
Postprandial hyperglycemia, Glycosuria, Failure to thrive, Hyperlipidemia, Ketotic hypoglycemia |
ORPHA:2089 |
| Anorectal Anomalies |
|
Anal atresia, Rectovaginal fistula |
OMIM:107100 |
| Alagille Syndrome 1 |
|
Focal segmental glomerulosclerosis, Short distal phalanx of finger, Renal hypoplasia, Peripheral ... |
OMIM:118450 |
| Microcephaly 30, Primary, Autosomal Recessive |
|
Secundum atrial septal defect, Tracheal stenosis, Cleft soft palate, Inguinal hernia, Clinodactyl... |
OMIM:620183 |
| Pontocerebellar Hypoplasia, Type 8 |
|
Gastroesophageal reflux, Arthrogryposis multiplex congenita, Talipes valgus, Pes cavus, Patent fo... |
OMIM:614961 |
| Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome |
|
Thin ribs, Lumbar hemivertebrae, Thin metatarsal cortices, Thin metacarpal cortices, Small hypoth... |
ORPHA:2463 |
| Paternal Uniparental Disomy Of Chromosome 1 |
|
Obesity, Polyphagia, Increased blood urea nitrogen, Craniosynostosis, Hypercalcemia, Enlarged kidney |
ORPHA:251004 |
| Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Unilateral renal agenesis, Broad hallux, Clinodactyly of the 5th finger, Inguinal hernia, Postaxi... |
ORPHA:457284 |
| Lipodystrophy, Familial Partial, Type 3 |
|
Insulin resistance, Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Type II... |
OMIM:604367 |
| Jacobsen Syndrome |
|
Annular pancreas, Flexion contracture, Micrognathia, Clinodactyly of the 5th finger, Cryptorchidi... |
OMIM:147791 |
| Neurodevelopmental, Jaw, Eye, And Digital Syndrome |
|
Renal hypoplasia, Sandal gap, Umbilical hernia, Micrognathia, Inguinal hernia, Joint contracture ... |
OMIM:618914 |
| Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome |
|
Supernumerary nipple, Cryptorchidism, Ventricular septal defect, Pes planus, Atrial septal defect... |
ORPHA:466791 |
| Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Absent gallbladder, Arachnodactyly, Atrial septal defect, Dysphagia, Gastroesophageal reflux, Abs... |
ORPHA:500150 |
| Camptobrachydactyly |
|
Short toe, Hand polydactyly, Brachydactyly, Congenital finger flexion contractures, Urinary incon... |
OMIM:114150 |
| Weill-Marchesani Syndrome |
|
Aortic valve stenosis, Short thumb, Ventricular septal defect, Brachydactyly, Pulmonic stenosis |
ORPHA:3449 |
| Achondrogenesis, Type Ii |
|
Microretrognathia, Broad long bones, Abnormal foot morphology, Hypoplastic iliac wing, Absent ver... |
OMIM:200610 |
| Abetalipoproteinemia |
|
Hypoalbuminemia, Osteopenia, Hypotriglyceridemia, Failure to thrive, Hypocholesterolemia, Abnorma... |
ORPHA:14 |
| Weaver Syndrome |
|
Broad thumb, Finger syndactyly, Sandal gap, Camptodactyly of finger, Talipes equinovarus, Large h... |
ORPHA:3447 |
| Congenital Disorder Of Glycosylation, Type Ia |
|
Hypoalbuminemia, Osteopenia, Failure to thrive, Cardiomyopathy, Steatorrhea, Hypocholesterolemia,... |
OMIM:212065 |
| Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Hypoalbuminemia, Osteopenia, Rickets, Failure to thrive, Hypoglycemia, Slender build, Hypocalcemi... |
OMIM:613658 |
| Ferguson-Bonni Neurodevelopmental Syndrome |
|
High palate, Coronary-pulmonary artery fistula, Congenital diaphragmatic hernia, Patent foramen o... |
OMIM:619699 |
| Craniometadiaphyseal Dysplasia, Wormian Bone Type |
|
Broad femoral neck, Overtubulated long bones, Abnormal foot morphology, Short tubular bones of th... |
ORPHA:85184 |
| Spondylocostal Dysostosis 1, Autosomal Recessive |
|
Block vertebrae, Abnormal odontoid process morphology, Kyphoscoliosis, Rib fusion, Vertebral segm... |
OMIM:277300 |
| Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis |
|
Lambdoidal craniosynostosis, Coronal craniosynostosis, Narrow chest, Narrow pelvis bone, Femoral ... |
OMIM:207410 |
| Woods Syndrome |
|
Supernumerary nipple, Limited elbow extension, Single transverse palmar crease, Ventricular septa... |
OMIM:615236 |
| Desbuquois Dysplasia 2 |
|
Epiphyseal dysplasia, Broad thumb, Advanced ossification of carpal bones, Flat acetabular roof, S... |
OMIM:615777 |
| Gabriele-De Vries Syndrome |
|
Aortopulmonary collateral arteries, Sandal gap, Micrognathia, Ureteropelvic junction obstruction,... |
OMIM:617557 |
| Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome |
|
Clinodactyly of the 3rd toe, Oligodactyly, Abnormality of the hand, Pes planus, Atrial septal def... |
ORPHA:521308 |
| Ventriculomegaly With Cystic Kidney Disease |
|
Renal insufficiency, Ventricular septal defect, Postaxial polydactyly, Renal corticomedullary cys... |
OMIM:219730 |
| Kawasaki Disease |
|
Vasculitis, Strawberry tongue, Plantar edema, Sterile pyuria, Double outlet right ventricle with ... |
ORPHA:2331 |
| Intellectual Developmental Disorder, Autosomal Recessive 65 |
|
Secundum atrial septal defect, Supernumerary nipple, Inguinal hernia, Cryptorchidism, Contracture... |
OMIM:618109 |
| Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Nephropathy, Aminoaciduria, Nephrocalcinosis, Talipes calcaneovalgus, Reduced renal corticomedull... |
OMIM:208085 |
| Diarrhea 3, Secretory Sodium, Congenital, With Or Without Other Congenital Anomalies |
|
Intestinal malrotation, Ureteral duplication, Anal atresia, Rectovaginal fistula, Cleft palate |
OMIM:270420 |
| Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria |
|
Abnormal joint morphology, Lumbar scoliosis, Short neck, Metaphyseal dysplasia, Genu varum, Irreg... |
ORPHA:99646 |
| Mogs-Cdg |
|
Hepatosplenomegaly, Overlapping fingers, Thoracic scoliosis, Pulmonary edema, Cardiomegaly, Left ... |
ORPHA:79330 |
| Desmosterolosis |
|
Total anomalous pulmonary venous return, Joint contracture of the hand, Rhizomelia, Micrognathia,... |
OMIM:602398 |
| Mesomelia-Synostoses Syndrome |
|
Abnormal vertebral morphology, Mesomelia, Metacarpal synostosis, Tarsometatarsal synostosis, Micr... |
OMIM:600383 |
| Hyperparathyroidism, Neonatal Severe |
|
Polydipsia, Failure to thrive, Splenomegaly, Hypophosphatemia, Calcinosis, Hepatomegaly, Hypercal... |
OMIM:239200 |
| Global Developmental Delay With Speech And Behavioral Abnormalities |
|
Anal atresia |
OMIM:619243 |
| Congenital Heart Defects And Ectodermal Dysplasia |
|
Atrioventricular canal defect |
OMIM:617364 |
| Tbck-Related Intellectual Disability Syndrome |
|
High, narrow palate, Macroglossia, Clinodactyly, Decreased response to growth hormone stimulation... |
ORPHA:488632 |
| Nijmegen Breakage Syndrome |
|
Anal stenosis, Sandal gap, Recurrent infection of the gastrointestinal tract, Recurrent bronchiti... |
OMIM:251260 |
| Van Den Ende-Gupta Syndrome |
|
Thin ribs, Hypoplastic scapulae, Joint contracture of the hand, Long metacarpals, Long hallux, Mi... |
OMIM:600920 |
| Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3 |
|
Hypoplastic ischia, Hypospadias, Polydactyly |
OMIM:616910 |
| Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate |
|
Palmoplantar keratoderma, Supernumerary nipple, Ventricular septal defect, 2-3 toe syndactyly, Mi... |
OMIM:106260 |
| Chime Syndrome |
|
Aplastic clavicle, Acute leukemia, Aplasia/Hypoplasia of the phalanges of the toes, Clubbing of t... |
ORPHA:3474 |
| Neurodevelopmental Disorder With Eye Movement Abnormalities And Ataxia |
|
Urinary incontinence, Atrial septal defect |
OMIM:620094 |
| Aural Atresia, Multiple Congenital Anomalies, And Impaired Intellectual Development |
|
Talipes equinovarus, Ventricular septal defect |
OMIM:209770 |
| Al-Raqad Syndrome |
|
Sandal gap, Brachydactyly, Atrial septal defect |
OMIM:616459 |
| Cerebellofaciodental Syndrome |
|
Slender long bone, Proximal femoral epiphysiolysis, Genu valgum, Cryptorchidism, Mitral valve pro... |
OMIM:616202 |
| Gapo Syndrome |
|
Asymmetry of the thorax, Abnormal pelvic girdle bone morphology, Abnormal clavicle morphology, Ab... |
ORPHA:2067 |
| Spondyloepimetaphyseal Dysplasia, Sponastrime Type |
|
Genu valgum, Narrow vertebral interpedicular distance, Lumbar interpedicular narrowing, Neutropen... |
OMIM:271510 |
| Meckel Syndrome, Type 5 |
|
Postaxial foot polydactyly, Occipital encephalocele, Cleft upper lip, Bowing of the long bones, P... |
OMIM:611561 |
| Mandibulofacial Dysostosis, Guion-Almeida Type |
|
Slender finger, Preaxial hand polydactyly, Micrognathia, Ventricular septal defect, Esophageal at... |
OMIM:610536 |
| Long Qt Syndrome 16 |
|
Patent ductus arteriosus after birth at term, Perimembranous ventricular septal defect |
OMIM:618782 |
| Costello Syndrome |
|
Ulnar deviation of finger, Gastroesophageal reflux, Abnormal dental enamel morphology, Hypertroph... |
ORPHA:3071 |
| Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia |
|
Gastroesophageal reflux, Patent foramen ovale |
OMIM:617182 |
| Spondyloepimetaphyseal Dysplasia, Aggrecan Type |
|
Platyspondyly, Rhizomelia, Broad thumb, Short finger, Irregular epiphyses, Lumbar hyperlordosis, ... |
OMIM:612813 |
| Camptobrachydactyly |
|
Ulnar deviation of finger, Toe syndactyly, Finger syndactyly, Camptodactyly of finger, Aplasia/Hy... |
ORPHA:1319 |
| Cerebellar-Facial-Dental Syndrome |
|
Foot joint contracture, Slender long bone, Micrognathia, Ureteropelvic junction obstruction, Cryp... |
ORPHA:444072 |
| Right Pulmonary Artery, Anomalous Origin Of, Familial |
|
Patent foramen ovale, Ventricular septal defect, Coarctation of aorta, Patent ductus arteriosus, ... |
OMIM:610338 |
| Tetraploidy |
|
Radial club hand, Micrognathia, Hydronephrosis, Aplasia/Hypoplasia of the lungs, Cleft palate |
ORPHA:3305 |
| Mosaic Variegated Aneuploidy Syndrome |
|
Multicystic kidney dysplasia, Abnormal lung lobation, Stomach cancer, Intestinal polyposis, Abnor... |
ORPHA:1052 |
| Duplication Of Urethra |
|
Anuria, Dysuria, Rectourethral fistula, Distal urethral duplication, Unilateral renal hypoplasia,... |
ORPHA:237 |
| Magel2-Related Prader-Willi-Like Syndrome |
|
Small pituitary gland, Small hand, Gastroesophageal reflux, Xerostomia, Decreased testicular size... |
ORPHA:398069 |
| 3Q29 Microduplication Syndrome |
|
Toe syndactyly, Sandal gap, Ventricular septal defect, Camptodactyly of toe, Ectopic anus, High p... |
ORPHA:251038 |
| Atrial Septal Defect 6 |
|
Atrial septal defect |
OMIM:613087 |
| Aase-Smith Syndrome I |
|
Slender finger, Ventricular septal defect, Talipes equinovarus, Flexion contracture, Cleft palate |
OMIM:147800 |
| Rhabdoid Tumor |
|
Weight loss, Hypercalcemia |
ORPHA:69077 |
| Anophthalmia Plus Syndrome |
|
Tessier cleft, Deviation of finger, Bilateral cleft palate, Spina bifida, Non-midline cleft of th... |
ORPHA:1104 |
| Transketolase Deficiency |
|
Increased level of ribose in urine, Abnormal heart morphology, Patent foramen ovale, Ventricular ... |
ORPHA:488618 |
| Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Multiple small medullary renal cysts, Renal insufficiency, Splenomegaly, Renal cyst, Tubulointers... |
OMIM:263200 |
| Cohen-Gibson Syndrome |
|
Broad thumb, Flared metaphysis, Umbilical hernia, Long foot, Hypoplastic iliac wing, Cryptorchidi... |
OMIM:617561 |
| Kid Syndrome |
|
Palmoplantar keratoderma, Patellar hypoplasia, Delayed pubic bone ossification, Equinus calcaneus... |
ORPHA:477 |
| Osteogenesis Imperfecta, Type Iii |
|
Thin ribs, Dentinogenesis imperfecta, Slender long bone, Micrognathia, Biconcave vertebral bodies... |
OMIM:259420 |
| Pfeiffer Syndrome Type 1 |
|
Broad thumb, Toe syndactyly, Finger syndactyly, Aplasia/Hypoplasia of the thumb, Hallux varus, Sh... |
ORPHA:93258 |
| Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature |
|
Ventricular septal defect, Varicose veins, Peripheral arterial stenosis, Patent ductus arteriosus... |
OMIM:126320 |
| Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities |
|
Cryptorchidism, Patent foramen ovale, Hydronephrosis, Atrial septal defect, Limb joint contractur... |
OMIM:620327 |
| Dpagt1-Cdg |
|
Clinodactyly, Flexion contracture, Stroke-like episode, Arachnodactyly, Lipodystrophy, Camptodact... |
ORPHA:86309 |
| Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type |
|
Platyspondyly, Shortening of all phalanges of fingers, Wormian bones, Limb undergrowth, Shortenin... |
OMIM:601356 |
| Dermatosparaxis Ehlers-Danlos Syndrome |
|
Gastroesophageal reflux, Joint dislocation, Abnormality of subcutaneous fat tissue, Abnormal join... |
ORPHA:1901 |
| X Small Rings |
|
Toe syndactyly, Aortic root aneurysm, Upper limb undergrowth, Mitral stenosis, Lower limb undergr... |
ORPHA:96201 |
| Biemond Syndrome Type 2 |
|
Hypospadias, Preaxial polydactyly |
ORPHA:141333 |
| Laurence-Moon Syndrome |
|
Micropenis, Abnormality of the hand, Polydactyly |
OMIM:245800 |
| Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1 |
|
Renal hypoplasia, Secundum atrial septal defect, Umbilical hernia, Oligodactyly, Absence of renal... |
OMIM:619758 |
| Silver-Russell Syndrome Due To A Point Mutation |
|
Short 5th finger, Ectrodactyly, Microphallus, Polydactyly, Clinodactyly of the 5th finger, Hyposp... |
ORPHA:397590 |
| 16Q24.3 Microdeletion Syndrome |
|
Dilated cardiomyopathy, Increased mean corpuscular volume, Micrognathia, Cryptorchidism, Ventricu... |
ORPHA:261250 |
| Bardet-Biedl Syndrome 3 |
|
Postaxial polydactyly, Renal hypoplasia, Brachydactyly |
OMIM:600151 |
| Cole-Carpenter Syndrome |
|
Abnormal form of the vertebral bodies, Abnormal dental enamel morphology, Micrognathia, Abnormal ... |
ORPHA:2050 |
| Curry-Jones Syndrome |
|
Anal stenosis, Broad thumb, Intestinal pseudo-obstruction, Preaxial hand polydactyly, 3-4 toe syn... |
OMIM:601707 |
| Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects |
|
Small hand, Gastroesophageal reflux, Clinodactyly, Broad hallux, Contracture of the proximal inte... |
OMIM:301044 |
| Hemochromatosis, Type 1 |
|
Increased circulating iron concentration, Cardiomyopathy, Increased circulating ferritin concentr... |
OMIM:235200 |
| Vitamin D-Dependent Rickets, Type 2A |
|
Delayed epiphyseal ossification, Subperiosteal bone resorption, Bulging epiphyses, Bulging of the... |
OMIM:277440 |
| Mucopolysaccharidosis Type 3 |
|
Aspiration pneumonia, Urinary glycosaminoglycan excretion, Genu valgum, Abnormal mitral valve mor... |
ORPHA:581 |
| Thymic Neuroendocrine Tumor |
|
Osteopenia, Weight loss, Hypercalcemia, Increased circulating cortisol level |
ORPHA:97289 |
| Oculodentodigital Dysplasia |
|
Toe syndactyly, Finger syndactyly, Clinodactyly, Micrognathia, Ventricular septal defect, Short h... |
ORPHA:2710 |
| 16P13.11 Microdeletion Syndrome |
|
Gastroesophageal reflux, Camptodactyly of finger, Cryptorchidism, Metatarsus valgus, Ventricular ... |
ORPHA:261236 |
| Kindler Epidermolysis Bullosa |
|
Inflammation of the large intestine, Atypical scarring of skin, Palmoplantar keratoderma, Finger ... |
ORPHA:2908 |
| Kleefstra Syndrome Due To 9Q34 Microdeletion |
|
Aortic valve stenosis, Tetralogy of Fallot, Conotruncal defect, Inguinal hernia, Renal insufficie... |
ORPHA:96147 |
| Small Cell Carcinoma Of The Bladder |
|
Hypercalcemia |
ORPHA:284400 |
| Blount Disease |
|
Abnormality of the proximal tibial epiphysis, Abnormal tibial metaphysis morphology, Tibial bowin... |
ORPHA:2768 |
| Analbuminemia |
|
Recurrent lower respiratory tract infections, Lipodystrophy, Patent ductus arteriosus |
OMIM:616000 |
| Combined Osteogenesis Imperfecta And Ehlers-Danlos Syndrome 1 |
|
Inguinal hernia, Scoliosis, Atrial septal defect |
OMIM:619115 |
| Bacterial Toxic-Shock Syndrome |
|
Hypoalbuminemia, Elevated circulating creatinine concentration, Hypocalcemia, Elevated circulatin... |
ORPHA:36234 |
| Formiminoglutamic Aciduria |
|
Abnormal concentration of acylcarnitine in the urine, Atrial septal defect |
ORPHA:51208 |
| Hypophosphatemic Rickets And Hyperparathyroidism |
|
Hypophosphatemia, Hypophosphatemic rickets, Hypercalcemia, Rickets |
OMIM:612089 |
| Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency |
|
Insulin resistance, Neonatal hyperbilirubinemia, Failure to thrive, Hypoglycemia, Attention defic... |
ORPHA:73272 |
| Bryant-Li-Bhoj Neurodevelopmental Syndrome 1 |
|
Gastroesophageal reflux, Dilation of Virchow-Robin spaces, Toe syndactyly, Broad thumb, Micrognat... |
OMIM:619720 |
| Renal Hypodysplasia/Aplasia 1 |
|
Proteinuria, Talipes equinovarus, Pulmonary hypoplasia |
OMIM:191830 |
| Fanconi Anemia, Complementation Group U |
|
Absent thumb, Patent ductus arteriosus, Hypoplasia of the radius, Absent radius, Absent scaphoid,... |
OMIM:617247 |
| Osteogenesis Imperfecta, Type Xvi |
|
Platyspondyly, Narrow chest, Rhizomelia, Microretrognathia, Multiple rib fractures, Bowing of the... |
OMIM:616229 |
| Endocrine-Cerebroosteodysplasia |
|
Narrow chest, Sandal gap, Micromelia, Preaxial polydactyly, Microphallus, Fibular bowing, Median ... |
OMIM:612651 |
| Nevus Comedonicus Syndrome |
|
Toe syndactyly, Finger syndactyly, Preaxial polydactyly |
ORPHA:64754 |
| Mody |
|
Abnormal oral glucose tolerance, Glycosuria, Insulin-resistant diabetes mellitus, Hyperglycemia, ... |
ORPHA:552 |
| Lethal Omphalocele-Cleft Palate Syndrome |
|
Bifid uvula, Cleft soft palate, Cleft palate, Omphalocele |
ORPHA:2736 |
| X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome |
|
Gastroesophageal reflux, Toe syndactyly, Microretrognathia, Short finger, Dilatation of the ventr... |
ORPHA:459070 |
| Gorlin-Chaudhry-Moss Syndrome |
|
Coronal craniosynostosis, Short distal phalanx of finger, Umbilical hernia, Abnormal foot morphol... |
ORPHA:2095 |
| Antley-Bixler Syndrome |
|
Narrow chest, Camptodactyly of finger, Delayed cranial suture closure, Femoral bowing, Arachnodac... |
ORPHA:83 |
| Klippel-Trenaunay-Weber Syndrome |
|
Macrodactyly, Finger aplasia, Hand polydactyly, Arteriovenous fistula, Syndactyly |
OMIM:149000 |
| Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome |
|
Patent ductus arteriosus |
OMIM:615147 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 13 |
|
Hypertrophic cardiomyopathy, Left ventricular noncompaction, Patent ductus arteriosus |
OMIM:616501 |
| Cardiofaciocutaneous Syndrome 1 |
|
Pectus carinatum, Gastroesophageal reflux, Hypertrophic cardiomyopathy, Micrognathia, Clinodactyl... |
OMIM:115150 |
| Beckwith-Wiedemann Syndrome |
|
Nephropathy, Cryptorchidism, Congenital diaphragmatic hernia, Hepatoblastoma, Polycythemia, Abnor... |
ORPHA:116 |
| Tumoral Calcinosis, Hyperphosphatemic, Familial, 1 |
|
Hyperphosphatemia, Hyperostosis, Subperiosteal bone formation, Calcinosis, Hypercalcemia |
OMIM:211900 |
| Osteogenesis Imperfecta, Type I |
|
Dentinogenesis imperfecta, Femoral bowing, Biconcave flattened vertebrae, Mitral valve prolapse, ... |
OMIM:166200 |
| Senior-Loken Syndrome 8 |
|
Nephronophthisis, Stage 5 chronic kidney disease, Polydactyly, Global glomerulosclerosis, Vascula... |
OMIM:616307 |
| X-Linked Hypophosphatemia |
|
Renal phosphate wasting, Cellulitis, Genu valgum, Bowing of the long bones, Genu varum, Vertebral... |
ORPHA:89936 |
| Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
|
Abnormal heart morphology, Hypocalcemic seizures, Diabetes mellitus, Hypocalcemia |
ORPHA:2237 |
| Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies |
|
Hypoplastic distal segments of scapulae, Micrognathia, Abnormal rib morphology, Pectus excavatum,... |
OMIM:602196 |
| Roberts-Sc Phocomelia Syndrome |
|
Clinodactyly, Micrognathia, Cryptorchidism, Ventricular septal defect, Short neck, Abnormal metac... |
OMIM:268300 |
| Craniometadiaphyseal Dysplasia |
|
Absent paranasal sinuses, Flared metaphysis, Broad long bones, Broad ribs, Genu valgum, Wormian b... |
OMIM:269300 |
| Brachymorphism-Onychodysplasia-Dysphalangism Syndrome |
|
Umbilical hernia, Inguinal hernia, Abnormal mitral valve morphology, Atrial septal defect, Brachy... |
ORPHA:1292 |
| Schizophrenia 1 |
|
Ectopic kidney, Short proximal phalanx of the 4th toe, Syndactyly |
OMIM:181510 |
| Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Increased circulating prolactin concentration, Aspiration pneumonia, Cryptorchidism, Ventricular ... |
ORPHA:438213 |
| Intellectual Developmental Disorder, Autosomal Dominant 53 |
|
Intestinal malrotation, Genu valgum, Cryptorchidism, Ventricular septal defect, Hydronephrosis, G... |
OMIM:617798 |
| Camurati-Engelmann Disease |
|
Abnormal tibia morphology, Genu valgum, Pes planus, Metaphyseal dysplasia, Abnormal morphology of... |
ORPHA:1328 |
| Chromosome 17Q23.1-Q23.2 Deletion Syndrome |
|
Slender finger, Secundum atrial septal defect, Tibial torsion, Bicuspid aortic valve, Talipes equ... |
OMIM:613355 |
| Epidermolysis Bullosa, Junctional 1B, Severe |
|
Pyloric stenosis, Syndactyly |
OMIM:226700 |
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 |
|
Thoracic hypoplasia, Elbow flexion contracture, Micrognathia, Vesicoureteral reflux, Hip contract... |
OMIM:300868 |
| Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder |
|
Gastroesophageal reflux, Clinodactyly, Ventricular septal defect, Atrial septal defect, Camptodac... |
OMIM:617360 |
| Silver-Russell Syndrome 1 |
|
Urethral valve, Abnormality of the ureter, Hepatocellular carcinoma, Clinodactyly of the 5th fing... |
OMIM:180860 |
| Cranioectodermal Dysplasia 3 |
|
Rhizomelia, Peripheral pulmonary artery stenosis, 2-4 toe syndactyly, Sandal gap, Nephronophthisi... |
OMIM:614099 |
| Beckwith-Wiedemann Syndrome |
|
Nephrocalcinosis, Cardiomyopathy, Renal cortical cysts, Diastasis recti, Vesicoureteral reflux, N... |
OMIM:130650 |
| Multifocal Atrial Tachycardia |
|
Hypertrophic cardiomyopathy, Ventricular septal defect, Atrial septal defect, Left ventricular di... |
ORPHA:3282 |
| Osteogenesis Imperfecta, Type Viii |
|
Thin ribs, Platyspondyly, Dentinogenesis imperfecta, Radial bowing, Slender long bone, Femoral bo... |
OMIM:610915 |
| Houge-Janssens Syndrome 2 |
|
Unilateral renal agenesis, Broad hallux, Deviation of the 5th finger, Postaxial polydactyly, Hip ... |
OMIM:616362 |
| Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies |
|
Decreased response to growth hormone stimulation test, Mitral stenosis, Renal cyst, Coarctation o... |
OMIM:617260 |
| Distal Deletion 6P |
|
Abnormal epiphysis morphology, Micrognathia, Vertebral segmentation defect, Talipes equinovarus, ... |
ORPHA:96125 |
| Alazami Syndrome |
|
Scoliosis, Atrial septal defect, Slender long bone |
ORPHA:319671 |
| Joubert Syndrome 7 |
|
Nephronophthisis, Stage 5 chronic kidney disease, Genu valgum, Postaxial polydactyly, Renal cyst,... |
OMIM:611560 |
| Orofaciodigital Syndrome Type 6 |
|
Lobulated tongue, Finger clinodactyly, Preaxial polydactyly, Abnormal heart morphology, Hamartoma... |
ORPHA:2754 |
| Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome |
|
Abnormal form of the vertebral bodies, Abnormality of the humeroulnar joint, Decreased testicular... |
ORPHA:2234 |
| Fetal Alcohol Syndrome |
|
Micrognathia, Congenital diaphragmatic hernia, Vertebral segmentation defect, Atrial septal defec... |
ORPHA:1915 |
| Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency |
|
Hypertrophic cardiomyopathy, Elevated urine 2,3-dihydroxy-2-methylbutanoic acid level, Ventricula... |
OMIM:616277 |
| Gorlin Syndrome |
|
Abnormal vertebral morphology, Palmar pits, Plantar pits, Vertebral wedging, Abnormal rib morphol... |
ORPHA:377 |
| Cardiomyopathy, Dilated, 2H |
|
Muscular ventricular septal defect, Secundum atrial septal defect |
OMIM:620203 |
| Keratoderma Hereditarium Mutilans |
|
Autoamputation of digits, Honeycomb palmoplantar hyperkeratosis, Abnormal spinal cord morphology,... |
ORPHA:494 |
| Osteogenesis Imperfecta, Type Xviii |
|
Thin ribs, Umbilical hernia, Micrognathia, Femoral bowing, Biconcave vertebral bodies, Bowing of ... |
OMIM:617952 |
| Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type |
|
Platyspondyly, Proximal femoral epiphysiolysis, Short femoral neck, Short fourth metatarsal, Over... |
OMIM:616723 |
| Systemic Sclerosis |
|
Chronic kidney disease, Intestinal bleeding, Finger swelling, Glomerulonephritis, Albuminuria, Dy... |
ORPHA:90291 |
| Isolated Anencephaly |
|
Congenital diaphragmatic hernia, Omphalocele |
ORPHA:563609 |
| Hypomagnesemia 3, Renal |
|
Hyperphosphatemia, Increased circulating beta-C-terminal telopeptide concentration, Polydipsia, H... |
OMIM:248250 |
| Intellectual Developmental Disorder, Autosomal Dominant 23 |
|
Postaxial polydactyly, Broad distal phalanx of finger, Hypospadias, Sandal gap |
OMIM:615761 |
| Mosaic Variegated Aneuploidy Syndrome 1 |
|
Multicystic kidney dysplasia, Leukemia, Micrognathia, Cryptorchidism, Renal cyst, Short sternum, ... |
OMIM:257300 |
| Cornelia De Lange Syndrome |
|
Multicystic kidney dysplasia, Toe syndactyly, Small hand, Elbow dislocation, Micrognathia, Crypto... |
ORPHA:199 |
| Oculoectodermal Syndrome |
|
Lower limb asymmetry, Bladder exstrophy, Supernumerary nipple, Hypertrophic cardiomyopathy, Trans... |
OMIM:600268 |
| Autosomal Recessive Malignant Osteopetrosis |
|
Abnormal pulmonary valve morphology, Splenomegaly, Hypocalcemia, Hypophosphatemia, Osteopetrosis,... |
ORPHA:667 |
| X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome |
|
Gastroesophageal reflux, Finger syndactyly, Single transverse palmar crease, Pulmonary artery ste... |
ORPHA:435938 |
| Autosomal Dominant Cutis Laxa |
|
Small bowel diverticula, Delayed cranial suture closure, Talipes calcaneovalgus, Dilatation of th... |
ORPHA:90348 |
| Fibrous Dysplasia Of Bone |
|
Rickets, Increased circulating cortisol level, Osteomalacia, Cortical irregularity, Fibrous dyspl... |
ORPHA:249 |
| Seckel Syndrome 9 |
|
Pulmonary artery hypoplasia, Micrognathia, Congenital diaphragmatic hernia, Ventricular septal de... |
OMIM:616777 |
| Radio-Tartaglia Syndrome |
|
High, narrow palate, Gastroesophageal reflux, Micrognathia, Pes cavus, Ventricular septal defect,... |
OMIM:619312 |
| Costello Syndrome |
|
Micrognathia, Barrel-shaped chest, Ventricular septal defect, Mitral valve prolapse, Talipes equi... |
OMIM:218040 |
| Cleft Lip/Palate |
|
Dental malocclusion, Velopharyngeal insufficiency, Palate fistula, Peg-shaped maxillary lateral i... |
ORPHA:199306 |
| Cone-Rod Dystrophy 16 |
|
Postaxial polydactyly |
OMIM:614500 |
| Spondyloepimetaphyseal Dysplasia, Genevieve Type |
|
Platyspondyly, Short femoral neck, Flared metaphysis, Irregular epiphyses, Small epiphyses, Carpa... |
OMIM:610442 |
| Ablepharon-Macrostomia Syndrome |
|
Toe syndactyly, Anteriorly placed anus, Cutaneous finger syndactyly, Ventral hernia, Hypoplastic ... |
OMIM:200110 |
| Cardiomyopathy, Dilated, 2D |
|
Dilated cardiomyopathy, Muscular ventricular septal defect, Patent foramen ovale, Interstitial ca... |
OMIM:619371 |
| Fanconi Anemia, Complementation Group C |
|
Bone marrow hypocellularity, Absent thumb, Short thumb, Horseshoe kidney, Absent radius, Pancytop... |
OMIM:227645 |
| Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor |
|
Delayed epiphyseal ossification, Bulging epiphyses, Rickets of the lower limbs, Genu valgum, Fibu... |
OMIM:600785 |
| Syngap1-Related Developmental And Epileptic Encephalopathy |
|
Postaxial polydactyly, High palate, Hypospadias |
ORPHA:544254 |
| Intellectual Developmental Disorder, Autosomal Dominant 45 |
|
Slender build, Recurrent hand flapping, Attention deficit hyperactivity disorder, Hyperactivity, ... |
OMIM:617600 |
| Marfan Syndrome |
|
Aortic root aneurysm, Micrognathia, Mitral valve prolapse, Limited elbow movement, Arachnodactyly... |
ORPHA:558 |
| 20P13 Microdeletion Syndrome |
|
Brachydactyly, Finger syndactyly, Clinodactyly, Polydactyly |
ORPHA:313781 |
| Hypomagnesemia, Seizures, And Impaired Intellectual Development 2 |
|
Hypokalemia, Hyperactivity, Self-biting, Hypomagnesemia |
OMIM:618314 |
| Teebi Hypertelorism Syndrome 2 |
|
Clinodactyly of the 5th finger, High palate, Hypospadias, Cleft palate, Syndactyly |
OMIM:619736 |
| Bardet-Biedl Syndrome 6 |
|
Postaxial polydactyly, Renal cyst, Hypospadias, Syndactyly |
OMIM:605231 |
| Diamond-Blackfan Anemia 21 |
|
Secundum atrial septal defect, Short toe, Sandal gap, Preaxial hand polydactyly, Micrognathia, Ge... |
OMIM:620072 |
| 19Q13.11 Microdeletion Syndrome |
|
Toe clinodactyly, Congenital hip dislocation, Toe syndactyly, Finger syndactyly, Supernumerary ni... |
ORPHA:217346 |
| Mowat-Wilson Syndrome |
|
Aortic valve stenosis, Multicystic kidney dysplasia, Genu valgum, Cryptorchidism, Bicuspid aortic... |
ORPHA:2152 |
| Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development |
|
Thin ribs, Slender long bone, Micrognathia, Vesicoureteral reflux, Hydronephrosis, Brachydactyly,... |
OMIM:618265 |
| Encephalocraniocutaneous Lipomatosis |
|
Peripheral pulmonary artery stenosis, Subcutaneous lipoma, Ventricular septal defect, Hydronephro... |
OMIM:613001 |
| Common Variable Immunodeficiency |
|
Vasculitis, Recurrent bronchitis, Gastrointestinal stroma tumor, Anal atresia, Bronchiectasis |
ORPHA:1572 |
| Neurodevelopmental Disorder With Microcephaly, Impaired Language, And Gait Abnormalities |
|
Clinodactyly, Syndactyly |
OMIM:619091 |
| Orofaciodigital Syndrome Type 2 |
|
Velopharyngeal insufficiency, Short tibia, Finger syndactyly, Micrognathia, Broad first metatarsa... |
ORPHA:2751 |
| Citrullinemia Type Ii |
|
Hypoalbuminemia, Decreased body mass index, Decreased HDL cholesterol concentration, Abnormal eat... |
ORPHA:247585 |
| Noonan Syndrome 9 |
|
Hydroureter, Cryptorchidism, Ventricular septal defect, Coarctation of aorta, Short neck, Pulmoni... |
OMIM:616559 |
| Glucose-Galactose Malabsorption |
|
Weight loss, Hypercalcemia, Failure to thrive, Hypernatremia |
ORPHA:35710 |
| Tibia, Hypoplasia Or Aplasia Of, With Polydactyly |
|
Short tibia, Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication |
OMIM:188740 |
| Autosomal Recessive Cutis Laxa Type 1 |
|
Peripheral pulmonary artery stenosis, Multiple bladder diverticula, Recurrent pneumonia, Urethral... |
ORPHA:90349 |
| Cole-Carpenter Syndrome 2 |
|
Thin ribs, Platyspondyly, Dentinogenesis imperfecta, Lambdoidal craniosynostosis, Coronal cranios... |
OMIM:616294 |
| Mucopolysaccharidosis, Type Iiib |
|
Splenomegaly, Cardiomegaly, Aggressive behavior, Hyperactivity, Hepatomegaly, Asymmetric septal h... |
OMIM:252920 |
| Waardenburg Syndrome, Type 1 |
|
Supernumerary ribs, Sprengel anomaly, Spina bifida, Supernumerary vertebrae |
OMIM:193500 |
| Oculodentodigital Dysplasia |
|
Hip dislocation, Clinodactyly, 3-4 toe syndactyly, Joint contracture of the 5th finger, Cubitus v... |
OMIM:164200 |
| Aredyld Syndrome |
|
Abnormal pelvic girdle bone morphology, Abnormal dental enamel morphology, Abnormality of the ure... |
ORPHA:1133 |
| Premature Aging Syndrome, Penttinen Type |
|
Thin ribs, Short distal phalanx of finger, Keloids, Slender long bone, Cervical ribs, Delayed cra... |
OMIM:601812 |
| Lacrimoauriculodentodigital Syndrome |
|
Toe syndactyly, Xerostomia, Finger syndactyly, Clinodactyly, Micrognathia, Cryptorchidism, Dyspha... |
ORPHA:2363 |
| Autosomal Recessive Polycystic Kidney Disease |
|
Hepatosplenomegaly, Hypersplenism, Micrognathia, Hepatoblastoma, Polycystic kidney dysplasia, Eso... |
ORPHA:731 |
| Coffin-Siris Syndrome 7 |
|
Clinodactyly of the 5th finger, Patent foramen ovale, Ventricular septal defect, Bicuspid aortic ... |
OMIM:618027 |
| Paget Disease Of Bone 2, Early-Onset |
|
Sclerosis of skull base, Hypercalcemia, Osteolysis, Osteosclerosis of the ulna |
OMIM:602080 |
| Helsmoortel-Van Der Aa Syndrome |
|
Small hand, Ankyloglossia, Genu valgum, Cryptorchidism, Mitral valve prolapse, Pes planus, Atrial... |
OMIM:615873 |
| Immunodeficiency 110 With Lymphoproliferation |
|
Recurrent upper respiratory tract infections, Recurrent pneumonia, Secundum atrial septal defect,... |
OMIM:614868 |
| Thauvin-Robinet-Faivre Syndrome |
|
Long foot, Bifid ureter, Long hallux, Transient neutropenia, Inguinal hernia, Mitral valve prolap... |
OMIM:617107 |
| 21Q22.11Q22.12 Microdeletion Syndrome |
|
Acromesomelia, Clinodactyly, Short proximal phalanx of the 5th finger, Hypoplastic nipples, Campt... |
ORPHA:261323 |
| Joubert Syndrome 15 |
|
Micropenis, Nephronophthisis, Preaxial polydactyly |
OMIM:614464 |
| Acute Adrenal Insufficiency |
|
Failure to thrive, Hypoglycemia, Hyperuricemia, Hyponatremia, Salt craving, Decreased circulating... |
ORPHA:95409 |
| Yunis-Varon Syndrome |
|
Hypoplastic scapulae, Toe syndactyly, Clinodactyly, Aspiration pneumonia, Micrognathia, Cryptorch... |
OMIM:216340 |
| 46,Xy Sex Reversal 4 |
|
Ureteropelvic junction obstruction, Hydronephrosis, High palate, Anal atresia, Cleft palate |
OMIM:154230 |
| Congenital Disorder Of Glycosylation, Type Iia |
|
Abnormal rib cage morphology, Slender long bone, Protruding tongue, Ventricular septal defect, Sh... |
OMIM:212066 |
| Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Aortic valve stenosis, Multicystic kidney dysplasia, Long hallux, Genu valgum, Cryptorchidism, Ve... |
ORPHA:261552 |
| Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies |
|
Unilateral renal agenesis, Abnormality of the vertebral column, Micrognathia, Sprengel anomaly, A... |
OMIM:601076 |
| Non-Functioning Paraganglioma |
|
Weight loss, Hypercalcemia |
ORPHA:94080 |
| Mandibulofacial Dysostosis-Microcephaly Syndrome |
|
Micrognathia, Atrial septal defect, Cleft palate, Preaxial hand polydactyly |
ORPHA:79113 |
| Acrofrontofacionasal Dysostosis 2 |
|
Broad thumb, Broad hallux, Hand polydactyly, High palate, Hypospadias, Syndactyly |
OMIM:239710 |
| Intellectual Developmental Disorder, Autosomal Recessive 71 |
|
Micropenis, Prune belly, Unilateral renal agenesis, Ventricular septal defect |
OMIM:618504 |
| Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Postprandial hyperglycemia, Insulin-resistant diabetes mellitus, Hypoglycemia, Hyperglycemia, Hyp... |
OMIM:262190 |
| Filippi Syndrome |
|
Finger syndactyly, Supernumerary nipple, Cryptorchidism, Bilateral single transverse palmar creas... |
ORPHA:3255 |
| Phace Association |
|
Arterial stenosis, Lingual thyroid, Ventricular septal defect, Coarctation of aorta, Aortic aneur... |
OMIM:606519 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 6 |
|
Hyperlordosis, Patent foramen ovale, Shoulder girdle muscle weakness |
OMIM:615156 |
| Aarskog-Scott Syndrome |
|
Small hand, Finger syndactyly, Camptodactyly of finger, Single transverse palmar crease, Broad pa... |
ORPHA:915 |
| Adams-Oliver Syndrome 1 |
|
Aortic valve stenosis, Hypoplastic left heart, Toe syndactyly, Supernumerary nipple, Tetralogy of... |
OMIM:100300 |
| Mandibuloacral Dysplasia Progeroid Syndrome |
|
Thin ribs, Delayed cranial suture closure, Decreased fibular diameter, Generalized lipodystrophy,... |
OMIM:619127 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Pneumonia, Platyspondyly, Recurrent pneumonia, Abnormal pelvic girdle bone morphology, Growth arr... |
OMIM:102700 |
| Monosomy 13Q34 |
|
Insulin resistance, Obesity, Common atrium, Hypercalcemia, Pulmonic stenosis |
ORPHA:96168 |
| Tangier Disease |
|
Coronary artery stenosis, Hypocholesterolemia, Hepatosplenomegaly, Left ventricular hypertrophy, ... |
ORPHA:31150 |
| Leprechaunism |
|
Megarectum, Nephrocalcinosis, Long penis, Hypertrophic cardiomyopathy, Long foot, Reduced subcuta... |
ORPHA:508 |
| Ethylene Glycol Poisoning |
|
Addictive alcohol use, Hyperkalemia, Hypocalcemia |
ORPHA:31826 |
| Hall-Riggs Syndrome |
|
Platyspondyly, Abnormal epiphysis morphology, Abnormal dental enamel morphology, Abnormal metaphy... |
ORPHA:2107 |
| Xylt1-Cdg |
|
Broad thumb, Joint dislocation, Clinodactyly, Flared metaphysis, Broad ribs, Short clavicles, Cox... |
ORPHA:370930 |
| Joubert Syndrome 23 |
|
Polydactyly |
OMIM:616490 |
| Addison Disease |
|
Type I diabetes mellitus, Failure to thrive, Hypoglycemia, Hyperuricemia, Hyponatremia, Salt crav... |
ORPHA:85138 |
| Noonan Syndrome 5 |
|
Abnormal sternum morphology, Hypertrophic cardiomyopathy, Cryptorchidism, Cubitus valgus, Short n... |
OMIM:611553 |
| Cardiomyopathy, Dilated, 2J |
|
Dilated cardiomyopathy, Secundum atrial septal defect |
OMIM:620635 |
| Charcot-Marie-Tooth Disease, Type 4B3 |
|
Urinary incontinence, Syndactyly |
OMIM:615284 |
| Igg4-Related Thyroid Disease |
|
Dysphagia, Hypocalcemia |
ORPHA:64744 |
| Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Generalized aminoaciduria, Glutaric aciduria, Proximal tubulopathy, Glycosuria, Renal cortical cy... |
OMIM:231680 |
| Senior-Loken Syndrome 9 |
|
Nephronophthisis, Stage 5 chronic kidney disease, Polydactyly, Hypoplasia of the femoral head, Tu... |
OMIM:616629 |
| Acrootoocular Syndrome |
|
High, narrow palate, Small hypothenar eminence, Short toe, Sandal gap, Short finger, Decreased pa... |
ORPHA:2980 |
| Van Der Woude Syndrome 1 |
|
Bifid uvula, Cleft upper lip, Lower lip pit, Hypodontia, Cleft palate |
OMIM:119300 |
| Xp22.3 Microdeletion Syndrome |
|
Ectopic anus |
ORPHA:1643 |
| Hypotonia, Infantile, With Psychomotor Retardation |
|
Ventricular septal defect |
OMIM:616816 |
| Lymphedema-Distichiasis Syndrome |
|
Spinal arachnoid cyst, Abnormality of the pulmonary vasculature, Proteinuria, Varicose veins, Tub... |
ORPHA:33001 |
| Uremic Pruritus |
|
Renal hypophosphatemia, Hypermagnesemia, Hypercalcemia, Increased blood urea nitrogen |
ORPHA:94059 |
| Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities |
|
2-3 toe cutaneous syndactyly, Gastroesophageal reflux, Secundum atrial septal defect, Decreased p... |
OMIM:620242 |
| Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction |
|
Atelectasis, Cystic pattern on pulmonary HRCT, Ventricular septal defect, Atrial septal defect, R... |
OMIM:610978 |
| Orofaciodigital Syndrome Ix |
|
Toe syndactyly, Short tibia, Hand polydactyly, High palate, Camptodactyly, Recurrent aspiration p... |
OMIM:258865 |
| 3-Methylglutaconic Aciduria, Type V |
|
3-Methylglutaric aciduria, Dilated cardiomyopathy, 3-Methylglutaconic aciduria, Noncompaction car... |
OMIM:610198 |
| Thin Ribs-Tubular Bones-Dysmorphism Syndrome |
|
Abnormal pelvic girdle bone morphology, Slender long bone, Abnormal rib morphology |
ORPHA:1506 |
| Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1 |
|
Toe syndactyly, Hydroureter, Ureterocele, Xerostomia, Vesicoureteral reflux, Hydronephrosis, Blad... |
OMIM:129900 |
| Nestor-Guillermo Progeria Syndrome |
|
Thin ribs, Lipoatrophy, Microretrognathia, Atherosclerosis, Micrognathia, Limited elbow movement,... |
OMIM:614008 |
| Acth-Independent Macronodular Adrenal Hyperplasia 2 |
|
Increased circulating cortisol level, Hyperglycemia, Increased body weight, Abdominal obesity, Os... |
OMIM:615954 |
| Geroderma Osteodysplasticum |
|
Platyspondyly, Hyperextensibility of the finger joints, Femoral bowing, Biconcave vertebral bodie... |
OMIM:231070 |
| Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans |
|
Platyspondyly, Narrow chest, Gastroesophageal reflux, Rhizomelia, Lumbar hyperlordosis, Femoral b... |
OMIM:616482 |
| Shprintzen Omphalocele Syndrome |
|
Narrow chest, Lumbar hyperlordosis, Omphalocele, Anal atresia, Scoliosis, Kyphosis |
OMIM:182210 |
| Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome |
|
Multicystic kidney dysplasia, Toe syndactyly, Finger syndactyly, Intestinal pseudo-obstruction, A... |
ORPHA:73246 |
| Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Cone-shaped epiphysis, Gastroesophageal reflux, Thoracic hypoplasia, Rhizomelic arm shortening, T... |
ORPHA:397715 |
| Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts |
|
Ectopic kidney, Cystic renal dysplasia, Ventricular septal defect |
OMIM:613730 |
| Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion |
|
Abnormal heart morphology, Hypertrophic cardiomyopathy, Abnormal tibia morphology, Micrognathia, ... |
ORPHA:363700 |
| Spondylo-Ocular Syndrome |
|
Platyspondyly, Ventricular septal defect, Short neck, Pes planus, Abnormal intervertebral disk mo... |
ORPHA:85194 |
| Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
|
Aortic valve stenosis, Short 5th toe, Cleft soft palate, Cryptorchidism, Ventricular septal defec... |
ORPHA:268261 |
| Congenital Disorder Of Glycosylation, Type Iie |
|
Gastroesophageal reflux, Secundum atrial septal defect, Overlapping fingers, Micrognathia, Protru... |
OMIM:608779 |
| Joubert Syndrome 21 |
|
Bell-shaped thorax, Splenomegaly, Short ribs, Renal cyst, Dysphagia, Pulmonary hypoplasia |
OMIM:615636 |
| Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Aortic valve stenosis, Multicystic kidney dysplasia, Long hallux, Genu valgum, Cryptorchidism, Ar... |
ORPHA:261537 |
| Craniometaphyseal Dysplasia, Autosomal Dominant |
|
Abnormal pelvic girdle bone morphology, Erlenmeyer flask deformity of the femurs, Abnormality of ... |
OMIM:123000 |
| Thoracic Outlet Syndrome |
|
Abnormal rib morphology, Varicose veins |
ORPHA:97330 |
| Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Toe syndactyly, Arteriovenous malformation, Finger syndactyly, Hand polydactyly, Foot polydactyly |
ORPHA:60040 |
| Van Maldergem Syndrome 2 |
|
Renal hypoplasia, Cutaneous syndactyly of toes, Narrow chest, Clinodactyly, Anteriorly placed anu... |
OMIM:615546 |
| Liver Disease, Severe Congenital |
|
Failure to thrive, Increased circulating ferritin concentration, Dilatation of the ventricular ca... |
OMIM:619991 |
| Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome |
|
Cleft soft palate, Micrognathia, Cryptorchidism, Submucous cleft soft palate, Short neck, Micrope... |
ORPHA:2282 |
| Paternal Uniparental Disomy Of Chromosome 6 |
|
Abdominal wall defect, Umbilical hernia, Micrognathia, Cryptorchidism, Ventricular septal defect,... |
ORPHA:96191 |
| Pfeiffer Syndrome |
|
Broad thumb, Synostosis of carpal bones, Finger syndactyly, Brachydactyly, Hip dysplasia, Clinoda... |
ORPHA:710 |
| Alkuraya-Kucinskas Syndrome |
|
Hand clenching, Clinodactyly, Overlapping toe, Overlapping fingers, Talipes equinovarus, Camptoda... |
OMIM:617822 |
| Holoprosencephaly 14 |
|
Double outlet right ventricle, Aortic valve atresia, Cleft palate, Ventricular septal defect |
OMIM:619895 |
| Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Hypospadias, Persistent open anterior fontanelle, Hepatosplenomegaly, Micrognathia, Epiphyseal st... |
OMIM:614866 |
| Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities |
|
Congenital hip dislocation, Hypoplastic coccygeal vertebrae, Dilation of Virchow-Robin spaces, Di... |
OMIM:619512 |
| Keutel Syndrome |
|
Short distal phalanx of finger, Pulmonary artery hypoplasia, Peripheral pulmonary artery stenosis... |
OMIM:245150 |
| Isolated Right Ventricular Hypoplasia |
|
Muscular ventricular septal defect, Patent foramen ovale, Cardiomegaly, Atrial septal defect, Rig... |
ORPHA:439 |
| Oculocerebrocutaneous Syndrome |
|
Short distal phalanx of finger, Congenital hip dislocation, Finger syndactyly, Congenital diaphra... |
ORPHA:1647 |
| Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities |
|
Unilateral renal agenesis, Coronary artery fistula, Cryptorchidism, Ventricular septal defect, At... |
OMIM:620024 |
| Intellectual Developmental Disorder, Autosomal Dominant 47 |
|
Gastroesophageal reflux, Supernumerary nipple, Cryptorchidism, Ventricular septal defect, Scoliosis |
OMIM:617635 |
| Intellectual Developmental Disorder, Autosomal Dominant 68 |
|
Gastroesophageal reflux, Broad hallux, Joint contracture of the 5th finger, Narrow palm, 2-3 toe ... |
OMIM:619934 |
| Aarskog-Scott Syndrome |
|
Short 5th finger, Clinodactyly, Radial deviation of finger, Single transverse palmar crease, Synd... |
OMIM:305400 |
| Joubert Syndrome 40 |
|
Postaxial polydactyly |
OMIM:619582 |
| Hallermann-Streiff Syndrome |
|
Thin ribs, Abnormal rib cage morphology, Recurrent pneumonia, Decreased number of sternal ossific... |
OMIM:234100 |
| Cardiomyopathy, Dilated, 1Oo |
|
Dilated cardiomyopathy, Atrial septal defect |
OMIM:620247 |
| Pelvic Organ Prolapse, Susceptibility To |
|
Rectal prolapse |
OMIM:176780 |
| Retinitis Pigmentosa 82 With Or Without Situs Inversus |
|
Situs inversus totalis |
OMIM:615434 |
| Developmental And Epileptic Encephalopathy 90 |
|
Atrial septal defect |
OMIM:301058 |
| Hypocalciuric Hypercalcemia, Familial, Type Iii |
|
Hypermagnesemia, Hypophosphatemia, Hypercalcemia, Osteomalacia |
OMIM:600740 |
| Cutis Laxa, Autosomal Recessive, Type Ib |
|
Aortic root aneurysm, Generalized arterial tortuosity, Micrognathia, Congenital diaphragmatic her... |
OMIM:614437 |
| Aplasia Cutis Congenita |
|
Toe syndactyly, Finger syndactyly |
ORPHA:1114 |
| Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Acute kidney injury, Anuria, Microangiopathic hemolytic anemia, Acute colitis, Leukocytosis, Reti... |
ORPHA:90038 |
| Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction |
|
Elevated hemoglobin A1c, Maturity-onset diabetes of the young, Hyperglycemia |
OMIM:609812 |
| Townes-Brocks Syndrome 2 |
|
Crossed fused renal ectopia, Vesicoureteral reflux, Anal atresia, Rectovaginal fistula, Hypospadias |
OMIM:617466 |
| Lethal Acantholytic Erosive Disorder |
|
Cardiomyopathy, Cardiomegaly, Camptodactyly of toe, 2-3 finger syndactyly, 4-5 finger syndactyly,... |
ORPHA:158687 |
| Neutropenia, Severe Congenital, 10, Autosomal Recessive |
|
Anorectal abscess, Monocytosis, Thrombocytopenia, Neutropenia, Anemia |
OMIM:620534 |
| Orofaciodigital Syndrome I |
|
Clinodactyly, Radial deviation of finger, Lobulated tongue, Abnormal heart morphology, Ankyloglos... |
OMIM:311200 |
| Mucopolysaccharidosis Type 2 |
|
Hip osteoarthritis, Recurrent upper respiratory tract infections, Contractures of the large joint... |
ORPHA:580 |
| Mayer-Rokitansky-Küster-Hauser Syndrome Type 2 |
|
Vertebral segmentation defect, Short neck, Ectopic kidney, Abnormal rib morphology |
ORPHA:2578 |
| Aortic Arch Interruption, Facial Palsy, And Retinal Coloboma |
|
Interrupted aortic arch, Coarctation of aorta |
OMIM:107550 |
| Joubert Syndrome 17 |
|
Postaxial polydactyly, 3-4 finger syndactyly, Preaxial polydactyly |
OMIM:614615 |
| Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities |
|
Self-injurious behavior, Fixated interests, Hypocalcemia, Hair-pulling, Ventricular septal defect... |
OMIM:620330 |
| Beck-Fahrner Syndrome |
|
Ventricular septal defect, Cardiomegaly, Pes planus, Hip dysplasia, High palate |
OMIM:618798 |
| Isotretinoin Embryopathy-Like Syndrome |
|
Conotruncal defect, Cleft palate |
OMIM:243440 |
| Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1 |
|
Hip dislocation, Shallow acetabular fossae, Radial bowing, Ulnar bowing, Limited pronation/supina... |
OMIM:605432 |
| Joubert Syndrome 14 |
|
Ventricular septal defect, Postaxial polydactyly, Renal cyst, Intracranial hemorrhage, Cleft palate |
OMIM:614424 |
| Distal Deletion 19P |
|
Keloids, Umbilical hernia, Ventricular septal defect, Arachnodactyly, Tricuspid valve prolapse, L... |
ORPHA:96129 |
| Cutis Laxa, Autosomal Recessive, Type Ia |
|
Peripheral pulmonary artery stenosis, Vascular tortuosity, Umbilical hernia, Emphysema, Congenita... |
OMIM:219100 |
| Hyperparathyroidism 2 With Jaw Tumors |
|
Hypercalcemia |
OMIM:145001 |
| Joubert Syndrome 27 |
|
Polydactyly |
OMIM:617120 |
| Arthrogryposis, Renal Dysfunction, And Cholestasis 2 |
|
Nephropathy, Aminoaciduria, Nephrocalcinosis, Glycosuria, Talipes calcaneovalgus, Renal tubular a... |
OMIM:613404 |
| Grant Syndrome |
|
Wormian bones, Micrognathia, Tibial bowing, Down-sloping shoulders |
OMIM:138930 |
| Congenital Sialidosis Type 2 |
|
Abnormal heart morphology, Polydactyly, Protruding tongue, Cherry red spot of the macula |
ORPHA:93400 |
| Faciodigitogenital Syndrome, Autosomal Recessive |
|
Abnormal rib cage morphology, Narrow palate, Clinodactyly of the 5th finger, Cryptorchidism, Ingu... |
OMIM:227330 |
| Chromosome 17P13.3, Telomeric, Duplication Syndrome |
|
3-4 finger syndactyly, Short tibia, Short toe, Absent hallux, Oligodactyly, Ectrodactyly, Contrac... |
OMIM:612576 |
| Spastic Paraplegia 9A, Autosomal Dominant |
|
Abnormal pelvic girdle bone morphology, Gastroesophageal reflux, Abnormal upper motor neuron morp... |
OMIM:601162 |
| Wrinkly Skin Syndrome |
|
Congenital hip dislocation, Deep plantar creases, Prominent veins on trunk, Umbilical hernia, Mul... |
ORPHA:2834 |
| Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency |
|
Hypercalcemia, Elevated creatine kinase after exercise |
ORPHA:284426 |
| Lumbar Syndrome |
|
Vesicoureteral reflux, Ectopic anus, Micropenis, Anal atresia, Hypospadias, Bladder exstrophy |
ORPHA:83628 |
| Zellweger Syndrome |
|
Multicystic kidney dysplasia, Micrognathia, Epiphyseal stippling, Cryptorchidism, Ventricular sep... |
ORPHA:912 |
| Hypophosphatemic Rickets, X-Linked Recessive |
|
Renal phosphate wasting, Chronic kidney disease, Nephrocalcinosis, Proximal tubulopathy, Delayed ... |
OMIM:300554 |
| Diets-Jongmans Syndrome |
|
Umbilical hernia, Congenital diaphragmatic hernia, Cryptorchidism, Inguinal hernia, Ventricular s... |
OMIM:618846 |
| Sacral Defect With Anterior Meningocele |
|
Hydromyelia, Absence of the sacrum, Urinary retention, Myeloschisis, Back pain, Neurogenic bladde... |
OMIM:600145 |
| Joubert Syndrome 39 |
|
Hypoplastic left heart, Postaxial polydactyly, Polycystic kidney dysplasia, Joint contracture of ... |
OMIM:619562 |
| Infection-Related Hemolytic Uremic Syndrome |
|
Hypocalcemia, Hyponatremia, Myocarditis, Hyperkalemia, Diabetes mellitus |
ORPHA:544482 |
| Blue Rubber Bleb Nevus |
|
Intestinal bleeding, Volvulus, Iron deficiency anemia, Thrombocytopenia, Rectal prolapse, Intussu... |
OMIM:112200 |
| Bardet-Biedl Syndrome 1 |
|
High, narrow palate, Postaxial foot polydactyly, Radial deviation of finger, Postaxial polydactyl... |
OMIM:209900 |
| Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities |
|
Secundum atrial septal defect, Pulmonic stenosis |
OMIM:178650 |
| Coxoauricular Syndrome |
|
Abnormal pelvic girdle bone morphology, Abnormal femur morphology, Micromelia, Hip dislocation |
ORPHA:1508 |
| Dent Disease 1 |
|
Renal phosphate wasting, Chronic kidney disease, Delayed epiphyseal ossification, Fibular bowing,... |
OMIM:300009 |
| Insulin-Resistance Syndrome Type B |
|
Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Type II diabetes mellitus, ... |
ORPHA:2298 |
| Epidermolysis Bullosa, Lethal Acantholytic |
|
Sandal gap, Widely spaced toes, Mitten deformity, Clinodactyly of the 5th finger, Tapered distal ... |
OMIM:609638 |
| Isolated Split Hand-Split Foot Malformation |
|
Oligodactyly, Absent hand, Split hand, Finger syndactyly |
ORPHA:2440 |
| Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome |
|
Asymmetry of the thorax, Finger syndactyly, Abnormal mitral valve morphology, Short hard palate, ... |
ORPHA:1969 |
| Polyhydramnios-Megalencephaly-Symptomatic Epilepsy Syndrome |
|
Nephrocalcinosis, Atrial septal defect |
ORPHA:500533 |
| Wrinkly Skin Syndrome |
|
Delayed cranial suture closure, Cryptorchidism, Talipes equinovarus, Pes planus, High palate, Atr... |
OMIM:278250 |
| Apert Syndrome |
|
Bifid uvula, Broad thumb, Toe syndactyly, Micromelia, Finger syndactyly, Aplasia/Hypoplasia of th... |
ORPHA:87 |
| Diamond-Blackfan Anemia 12 |
|
Elevated red cell adenosine deaminase activity, Macrocytic anemia, Ventricular septal defect, Ret... |
OMIM:615550 |
| Legius Syndrome |
|
Male urethral meatus stenosis, Abnormal sternum morphology, Mitral valve prolapse, Polydactyly, N... |
ORPHA:137605 |
| Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy |
|
Nephrocalcinosis, Atrial septal defect |
OMIM:611087 |
| Double Outlet Left Ventricle |
|
Cryptorchidism, Ventricular septal defect, Cardiomegaly, Pulmonary artery stenosis, Bicuspid pulm... |
ORPHA:3427 |
| Atrial Septal Defect 9 |
|
Bicuspid aortic valve, Secundum atrial septal defect |
OMIM:614475 |
| Den Hoed-De Boer-Voisin Syndrome |
|
Small hand, Gastroesophageal reflux, Sandal gap, Ventricular septal defect, 2-3 toe syndactyly, A... |
OMIM:619229 |
| Hennekam Syndrome |
|
Pericardial effusion, Splenomegaly, Craniosynostosis, Hypocalcemia |
ORPHA:2136 |
| Retinitis Pigmentosa 51 |
|
Polydactyly |
OMIM:613464 |
| Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form |
|
Dilated cardiomyopathy, Gastroesophageal reflux, Anal fissure, Esophageal stricture, Ankyloglossi... |
ORPHA:89842 |
| Immunodeficiency 40 |
|
Focal active colitis, Recurrent pneumonia, Interstitial pneumonitis, Respiratory tract infection,... |
OMIM:616433 |
| Coffin-Siris Syndrome 12 |
|
Broad thumb, Velopharyngeal insufficiency, Delayed cranial suture closure, Micrognathia, Cryptorc... |
OMIM:619325 |
| Lethal Congenital Contracture Syndrome 2 |
|
Hydronephrosis, Dilated cardiomyopathy, Arthrogryposis multiplex congenita, Ventricular septal de... |
OMIM:607598 |
| Chromosome 13Q14 Deletion Syndrome |
|
Supernumerary nipple, Umbilical hernia, Overlapping toe, Micrognathia, Inguinal hernia, Cryptorch... |
OMIM:613884 |
| Bardet-Biedl Syndrome 12 |
|
Postaxial foot polydactyly, Hydroureter, Polydactyly, Hydronephrosis, Postaxial hand polydactyly,... |
OMIM:615989 |
| Osteopetrosis, Autosomal Dominant 2 |
|
Hip osteoarthritis, Bone marrow hypocellularity, Abnormal pelvic girdle bone morphology, Fracture... |
OMIM:166600 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 5 |
|
Atrial septal defect |
OMIM:615160 |
| Aicardi Syndrome |
|
Block vertebrae, Gastroesophageal reflux, Small hand, Intestinal polyposis, Butterfly vertebrae, ... |
ORPHA:50 |
| Retinitis Pigmentosa With Or Without Skeletal Anomalies |
|
Short distal phalanx of finger, Horseshoe kidney, Micrognathia, Ventricular septal defect, Renal ... |
OMIM:250410 |
| Rabson-Mendenhall Syndrome |
|
Nephrocalcinosis, Long penis, Cardiomyopathy, Furrowed tongue, Reduced subcutaneous adipose tissu... |
ORPHA:769 |
| Monosomy 9Q22.3 |
|
Palmar pits, Plantar pits, Abnormality of the vertebral column, Umbilical hernia, Cardiac fibroma... |
ORPHA:77301 |
| Autosomal Dominant Popliteal Pterygium Syndrome |
|
Toe syndactyly, Popliteal pterygium, Finger syndactyly, Micrognathia, Cryptorchidism, Split hand,... |
ORPHA:1300 |
| Crane-Heise Syndrome |
|
Aplastic clavicle, Hypoplastic scapulae, Toe syndactyly, Short distal phalanx of finger, Finger s... |
ORPHA:1512 |
| Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion |
|
Abnormal heart morphology, High palate, Polydactyly |
ORPHA:314655 |
| Bardet-Biedl Syndrome 20 |
|
Preaxial foot polydactyly, 2-3 toe syndactyly, Postaxial polydactyly, Proteinuria, Atrial septal ... |
OMIM:619471 |
| Eem Syndrome |
|
Finger syndactyly, Ectrodactyly |
ORPHA:1897 |
| Goldberg-Shprintzen Syndrome |
|
Small hand, Vesicoureteral reflux, Ventricular septal defect, Aganglionic megacolon, Short neck, ... |
OMIM:609460 |
| Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome |
|
High, narrow palate, Ulnar deviation of finger, Camptodactyly of finger, Umbilical hernia, Inguin... |
ORPHA:1101 |
| Eisenmenger Syndrome |
|
Bacterial endocarditis, Increased mean corpuscular volume, Tetralogy of Fallot, Abnormal heart mo... |
ORPHA:97214 |
| Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii |
|
Micrognathia, Cryptorchidism, Bilateral single transverse palmar creases, Short neck, Abnormal me... |
ORPHA:2636 |
| Congenital Pulmonary Valvar Stenosis |
|
Atrial septal defect |
ORPHA:3189 |
| Elsahy-Waters Syndrome |
|
Bifid uvula, Anal stenosis, Anteriorly placed anus, Bilateral cryptorchidism, Shortening of all p... |
OMIM:211380 |
| Craniotubular Dysplasia, Ikegawa Type |
|
Platyspondyly, Broad femoral neck, Broad ribs, Increased intervertebral space, Ventricular septal... |
OMIM:619727 |
| Multiple Myeloma |
|
Osteopenia, Elevated circulating creatinine concentration, Splenomegaly, Weight loss, Hyperprotei... |
ORPHA:29073 |
| Wiedemann-Rautenstrauch Syndrome |
|
Thin ribs, Clinodactyly, Prominent scalp veins, Micrognathia, Cryptorchidism, Reduced subcutaneou... |
OMIM:264090 |
| Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis |
|
Pulmonary fibrosis, Secundum atrial septal defect |
OMIM:611926 |
| Ring Chromosome 13 Syndrome |
|
Aplasia/hypoplasia involving bones of the hand, Aplasia/Hypoplasia of the thumb, Anal atresia, Pa... |
ORPHA:96176 |
| Posterior Column Ataxia-Retinitis Pigmentosa Syndrome |
|
Gastrointestinal dysmotility, Flexion contracture of finger, Abnormal spinal cord morphology, Cam... |
ORPHA:88628 |
| Osteopetrosis With Renal Tubular Acidosis |
|
Failure to thrive, Hypocalcemia, Elevated circulating creatine kinase concentration, Osteopetrosi... |
ORPHA:2785 |
| Mietens Syndrome |
|
Elbow dislocation, Avascular necrosis of the capital femoral epiphysis, Talipes, Elbow ankylosis,... |
ORPHA:2557 |
| Joubert Syndrome 37 |
|
Postaxial polydactyly, Micropenis, Hydronephrosis, High palate |
OMIM:619185 |
| Ebstein Malformation Of The Tricuspid Valve |
|
Imperforate tricuspid valve, Abnormal endocardium morphology, Atrial septal defect, Abnormal card... |
ORPHA:1880 |
| Microcephaly 26, Primary, Autosomal Dominant |
|
Recurrent pneumonia, Protruding tongue, Patent foramen ovale, Hydronephrosis, Scoliosis |
OMIM:619179 |
| Lambotte Syndrome |
|
Preaxial foot polydactyly, Ventricular septal defect |
OMIM:245552 |
| Mowat-Wilson Syndrome |
|
Pectus carinatum, Abnormal enteric ganglion morphology, Supernumerary nipple, Abnormal heart morp... |
OMIM:235730 |
| Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities |
|
Hypoplastic left heart, Anteriorly placed anus, Tetralogy of Fallot, Cryptorchidism, Patent foram... |
OMIM:618748 |
| Osteoporosis-Pseudoglioma Syndrome |
|
Platyspondyly, Biconcave vertebral bodies, Barrel-shaped chest, Kyphoscoliosis, Ventricular septa... |
OMIM:259770 |
| Metaphyseal Chondrodysplasia, Jansen Type |
|
Osteopenia, Hypophosphatemia, Hypercalcemia |
OMIM:156400 |
| Hypocalciuric Hypercalcemia, Familial, Type I |
|
Hypermagnesemia, Hypercalcemia |
OMIM:145980 |
| Joubert Syndrome 3 |
|
Stage 5 chronic kidney disease, Atrial septal defect, Nephronophthisis |
OMIM:608629 |
| Septooptic Dysplasia |
|
Polydactyly, Short finger |
OMIM:182230 |
| Familial Cutaneous Collagenoma |
|
Atrial septal defect, Cardiomyopathy |
ORPHA:53296 |
| Joubert Syndrome 33 |
|
Syndactyly |
OMIM:617767 |
| Pancreatic insufficiency, combined exocrine |
|
Anal atresia |
OMIM:260450 |
| Ablepharon Macrostomia Syndrome |
|
Toe syndactyly, Umbilical hernia, Camptodactyly of finger, Breast hypoplasia, Omphalocele, Hypopl... |
ORPHA:920 |
| Trichorhinophalangeal Syndrome, Type Ii |
|
Rib exostoses, Micrognathia, Lumbar scoliosis, Bicuspid aortic valve, Thoracolumbar scoliosis, Sh... |
OMIM:150230 |
| Ramos-Arroyo Syndrome |
|
Xerostomia, Smooth tongue, Aganglionic megacolon, Atrial septal defect, Patent ductus arteriosus |
ORPHA:1051 |
| Axenfeld-Rieger Syndrome, Type 2 |
|
Abnormal heart morphology, Anal stenosis, Hypospadias |
OMIM:601499 |
| Lymphatic Malformation 7 |
|
Chylothorax, Pleural effusion, Pulmonary edema, Atrial septal defect, Varicose veins, Pericardial... |
OMIM:617300 |
| Trisomy 20P |
|
Finger syndactyly, Camptodactyly of finger, Preaxial hand polydactyly, Abnormality of the ureter,... |
ORPHA:261318 |
| D-Glyceric Aciduria |
|
Aminoaciduria, Gastroesophageal reflux, Single transverse palmar crease, Micropenis, Patent ductu... |
OMIM:220120 |
| Manitoba Oculotrichoanal Syndrome |
|
Anteriorly placed anus, Anal stenosis, Omphalocele |
OMIM:248450 |
| Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome |
|
Bifid uvula, Absent nipple, Gastroesophageal reflux, Clinodactyly, Broad hallux, Ankyloglossia, M... |
OMIM:620186 |
| Atrial Septal Defect 5 |
|
Secundum atrial septal defect |
OMIM:612794 |
| Atrial Septal Defect 3 |
|
Secundum atrial septal defect |
OMIM:614089 |
| Beta-Ureidopropionase Deficiency |
|
Elevated urinary ureidopropionic acid level, Elevated urinary N-carbamyl-beta-aminoisobutyric aci... |
OMIM:613161 |
| Monosomy 9P |
|
Abnormality of the vertebral column, Abnormality of the tarsal bones, Micrognathia, Ureteropelvic... |
ORPHA:261112 |
| Laubry-Pezzi Syndrome |
|
Abnormal coronary artery morphology, Patent foramen ovale, Ventricular septal defect, Aortic valv... |
ORPHA:99094 |
| Congenital Disorder Of Glycosylation, Type Iiw |
|
Moderate albuminuria, Narrow chest, Pectus carinatum, Gastroesophageal reflux, Microcytic anemia,... |
OMIM:619525 |
| Secondary Intestinal Lymphangiectasia |
|
Hypoalbuminemia, Secondary hyperaldosteronism, Reduced circulating transferrin concentration, Hyp... |
ORPHA:90363 |
| Hypocalciuric Hypercalcemia, Familial, Type Ii |
|
Hypermagnesemia, Hypercalcemia |
OMIM:145981 |
| Brain-Lung-Thyroid Syndrome |
|
Recurrent pneumonia, Megacystis, Vesicoureteral reflux, Patent foramen ovale, Ventricular septal ... |
ORPHA:209905 |
| Trichothiodystrophy |
|
High, narrow palate, Joint dislocation, Increased mean corpuscular hemoglobin concentration, Card... |
ORPHA:33364 |
| Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1 |
|
Decreased urinary lysyl-pyridinoline-hydroxylysyl-pyridinoline ratio, Thin ribs, Recurrent pneumo... |
OMIM:225400 |
| Autosomal Dominant Kenny-Caffey Syndrome |
|
Hyperphosphatemia, Hypocalcemic tetany, Decreased skull ossification, Calvarial osteosclerosis, C... |
ORPHA:93325 |
| Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome |
|
Gastroesophageal reflux, Lumbar hyperlordosis, Equinus calcaneus, 2-3 toe syndactyly, Pes valgus,... |
ORPHA:522077 |
| Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7 |
|
High, narrow palate, Gastroesophageal reflux, Clinodactyly, Abnormal heart morphology, Horseshoe ... |
ORPHA:96182 |
| Developmental And Epileptic Encephalopathy 18 |
|
Atrial septal defect |
OMIM:615476 |
| Familial Hypocalciuric Hypercalcemia |
|
Renal hypophosphatemia, Hypermagnesemia, Osteomalacia, Hypocalcemic seizures, Hypercalcemia |
ORPHA:405 |
| Neurodevelopmental Disorder With Hypotonia, Language Delay, And Skeletal Defects With Or Without Seizures |
|
2-3 toe cutaneous syndactyly, Anal stenosis, Gastroesophageal reflux, Talipes equinovarus, Cutane... |
OMIM:620029 |
| Bladder Exstrophy And Epispadias Complex |
|
Unilateral renal agenesis, Abnormal pelvic girdle bone morphology, Hydroureter, Anteriorly placed... |
OMIM:600057 |
| Sclerosteosis 1 |
|
Broad clavicles, Abnormal pelvic girdle bone morphology, Deviation of finger, Broad ribs, Sclerot... |
OMIM:269500 |
| Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Esophageal carcinoma, Recurrent upper respiratory tract infections, Functional abnormality of the... |
ORPHA:391487 |
| Ehlers-Danlos Syndrome, Vascular Type |
|
Cryptorchidism, Mitral valve prolapse, Talipes equinovarus, Pulmonary bulla, Finger joint hypermo... |
OMIM:130050 |
| Trichohepatoenteric Syndrome 1 |
|
Galactosuria, Bifid uvula, Tetralogy of Fallot, Avascular necrosis of the capital femoral epiphys... |
OMIM:222470 |
| Congenital Gerbode Defect |
|
Bacterial endocarditis, Ventricular septal defect, Constrictive pericarditis, Perimembranous vent... |
ORPHA:99095 |
| Larsen Syndrome |
|
Short distal phalanx of finger, Broad distal phalanx of finger, Broad thumb, Abnormal epiphysis m... |
ORPHA:503 |
| Sacral Agenesis With Vertebral Anomalies |
|
Unilateral renal agenesis, Anal atresia, Persistent cloaca |
OMIM:615709 |
| Familial Osteodysplasia, Anderson Type |
|
Aplastic clavicle, Bifid femur, Abnormal form of the vertebral bodies, Elbow dislocation, Missing... |
ORPHA:2769 |
| Congenital Tricuspid Valve Dysplasia |
|
Abnormal tricuspid valve annulus morphology, Patent foramen ovale, Cardiomegaly, Tricuspid valve ... |
ORPHA:555874 |
| Aicardi Syndrome |
|
Recurrent pneumonia, Block vertebrae, Butterfly vertebrae, Missing ribs, Supernumerary ribs, Rib ... |
OMIM:304050 |
| Oculocerebrorenal Syndrome Of Lowe |
|
Micrognathia, Genu valgum, Cryptorchidism, Hematuria, Proximal renal tubular acidosis, Patellar d... |
ORPHA:534 |
| Short Stature, Microcephaly, And Endocrine Dysfunction |
|
Unilateral renal agenesis, Renal hypoplasia, Dilated cardiomyopathy, Clinodactyly, Lymphopenia, P... |
OMIM:616541 |
| Noonan Syndrome-Like Disorder With Loose Anagen Hair 1 |
|
Abnormal sternum morphology, Hypertrophic cardiomyopathy, Inguinal hernia, Cryptorchidism, Ventri... |
OMIM:607721 |
| Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type |
|
Multiple bladder diverticula, Cryptorchidism, Proteinuria, Abnormal palmar dermatoglyphics, Atria... |
ORPHA:2728 |
| Omphalocele Syndrome, Shprintzen-Goldberg Type |
|
Anal atresia, Gastroesophageal reflux, Scoliosis, Omphalocele |
ORPHA:3164 |
| Cri-Du-Chat Syndrome |
|
Bifid uvula, Gastroesophageal reflux, Single transverse palmar crease, Metatarsus adductus, High ... |
OMIM:123450 |
| Cutis Laxa, Autosomal Dominant 1 |
|
Peripheral pulmonary artery stenosis, Emphysema, Inguinal hernia, Uterine prolapse, Ventricular s... |
OMIM:123700 |
| Atrioventricular Septal Defect 4 |
|
Primum atrial septal defect |
OMIM:614430 |
| Bartter Syndrome, Type 1, Antenatal |
|
Osteopenia, Hyperchloriduria, Increased serum prostaglandin E2, Small for gestational age, Failur... |
OMIM:601678 |
| Hypoplastic Left Heart Syndrome 2 |
|
Hypoplastic left heart, Aortic valve atresia, Mitral atresia, Ventricular septal defect |
OMIM:614435 |
| Renal Tubular Dysgenesis |
|
Anuria, Pulmonary hypoplasia |
OMIM:267430 |
| Johanson-Blizzard Syndrome |
|
Colonic diverticula, Dilated cardiomyopathy, Anteriorly placed anus, Situs inversus totalis, Sing... |
OMIM:243800 |
| Microcephaly, Developmental Delay, And Brittle Hair Syndrome |
|
Aortic root aneurysm, Talipes valgus, Pes cavus, Submucous cleft hard palate, Ankle clonus, Chord... |
OMIM:618891 |
| Pyknoachondrogenesis |
|
Unossified sacrum, Short iliac bones, Micromelia, Horizontal ribs, Short ribs, Poorly ossified ve... |
ORPHA:3003 |
| Adenocarcinoma Of The Anal Canal |
|
Anal stenosis, Intestinal bleeding, Neoplasm of the liver, Neoplasm of the rectum, Lymphadenopath... |
ORPHA:424016 |
| Camptodactyly Syndrome, Guadalajara Type 3 |
|
Small hand, Broad femoral neck, Distal shortening of limbs, Thickened cortex of long bones, Short... |
ORPHA:488434 |
| Dubowitz Syndrome |
|
Hypocholesterolemia, Hyperactivity |
OMIM:223370 |
| Pheochromocytoma--Islet Cell Tumor Syndrome |
|
Hypercalcemia |
OMIM:171420 |
| Van Der Woude Syndrome 2 |
|
Lip pit, Dental malocclusion, Cleft upper lip, Anodontia, Hypodontia, Cleft palate |
OMIM:606713 |
| Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome |
|
Toe syndactyly, Finger syndactyly, Abnormal metacarpal morphology, Short hallux, Hypospadias |
ORPHA:3224 |
| Mend Syndrome |
|
Aortic valve stenosis, Broad hallux, Overlapping toe, Overlapping fingers, Crossed fused renal ec... |
OMIM:300960 |
| Autosomal Recessive Hypophosphatemic Rickets |
|
Renal phosphate wasting, Lower limb asymmetry, Polyarticular arthritis, Sclerotic vertebral endpl... |
ORPHA:289176 |
| Goldberg-Shprintzen Megacolon Syndrome |
|
Aganglionic megacolon, Hypospadias, Finger syndactyly, Cleft palate |
ORPHA:66629 |
| Chondrodysplasia-Difference Of Sex Development Syndrome |
|
Narrow chest, Abnormal pelvic girdle bone morphology, Micromelia, Broad long bones, Abnormal shou... |
ORPHA:1422 |
| Microcephalic Primordial Dwarfism, Dauber Type |
|
Madelung deformity, Lumbar scoliosis, Limb undergrowth, Bilateral breast hypoplasia, Hip dysplasi... |
ORPHA:319675 |
| Au-Kline Syndrome |
|
Chronic kidney disease, Bifid uvula, Gastroesophageal reflux, Aortic root aneurysm, Overlapping t... |
OMIM:616580 |
| Mayer-Rokitansky-Küster-Hauser Syndrome |
|
Ectopic ovary, Unilateral renal agenesis, Abnormal form of the vertebral bodies, Horseshoe kidney... |
ORPHA:3109 |
| Vipoma |
|
Increased circulating cortisol level, Hypokalemia, Weight loss, Anorexia, Hepatomegaly, Hypercalc... |
ORPHA:97282 |
| Myopathy With Extrapyramidal Signs |
|
Leukocytosis, Splenomegaly, Ventricular septal defect, Short neck, Calf muscle hypertrophy |
OMIM:615673 |
| Acrofacial Dysostosis, Catania Type |
|
Small hand, Finger syndactyly, Bilateral single transverse palmar creases, Brachydactyly, Pectus ... |
ORPHA:1786 |
| Faciocardiomelic Syndrome |
|
Narrow chest, Slender long bone, Micrognathia, Hypoplastic pelvis, Polydactyly, Cuboid-shaped ver... |
OMIM:612731 |
| Microphthalmia, Lenz Type |
|
Hydroureter, Finger syndactyly, Abnormal clavicle morphology, Camptodactyly of finger, Abnormal s... |
ORPHA:568 |
| Congenital Disorder Of Glycosylation, Type It |
|
Bifid uvula, Dilated cardiomyopathy, Micrognathia, Ventricular septal defect, Hydronephrosis, Car... |
OMIM:614921 |
| Somatostatinoma |
|
Increased circulating cortisol level, Hepatomegaly, Weight loss, Anorexia, Steatorrhea, Hypercalc... |
ORPHA:97283 |
| Epilepsy, Early-Onset, 2, With Or Without Developmental Delay |
|
Patent foramen ovale |
OMIM:618832 |
| Dohle Bodies And Leukemia |
|
Secundum atrial septal defect |
OMIM:223350 |
| Congenital Syphilis |
|
Pneumonia, Extramedullary hematopoiesis, Hepatosplenomegaly, Tibial bowing, Synovitis, Osteochond... |
ORPHA:499009 |
| Orofaciodigital Syndrome Type 1 |
|
Multicystic kidney dysplasia, Finger syndactyly, Foot polydactyly, High palate, Tarsal synostosis... |
ORPHA:2750 |
| Preaxial Polydactyly-Colobomata-Intellectual Disability Syndrome |
|
Preaxial polydactyly |
ORPHA:2921 |
| Deafness-Craniofacial Syndrome |
|
Bifid tongue, Patent ductus arteriosus |
ORPHA:3241 |
| Postaxial Acrofacial Dysostosis |
|
Finger syndactyly, Camptodactyly of finger, Hypoplasia of the ulna, Hypoplasia of the radius, Cle... |
ORPHA:246 |
| Familial Colorectal Cancer Type X |
|
Gastrointestinal hemorrhage, Pituitary adenoma, Cardiac diverticulum, Pancreatic adenocarcinoma, ... |
ORPHA:440437 |
| Noonan Syndrome With Multiple Lentigines |
|
Hypertrophic cardiomyopathy, Atrioventricular canal defect, Abnormal pulmonary valve morphology, ... |
ORPHA:500 |
| Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities |
|
Horseshoe kidney, Vesicoureteral reflux, Submucous cleft hard palate, Ventricular septal defect, ... |
OMIM:619103 |
| Interatrial Communication |
|
Right ventricular dilatation, Secundum atrial septal defect, Stroke, Cardiomegaly, Sinus venosus ... |
ORPHA:1478 |
| Bartsocas-Papas Syndrome |
|
Toe syndactyly, Absent thumb, Finger syndactyly, Aplasia/Hypoplasia of the distal phalanges of th... |
ORPHA:1234 |
| Whim Syndrome |
|
Pneumonia, Cellulitis, Recurrent upper respiratory tract infections, Recurrent pneumonia, Lymphad... |
ORPHA:51636 |
| Van Der Woude Syndrome |
|
Lip pit, Cleft upper lip, Lower lip pit, Hypodontia, Abnormal salivary gland morphology, Cleft pa... |
ORPHA:888 |
| Long-Olsen-Distelmaier Syndrome |
|
Cardiomegaly, Dilated cardiomyopathy, Secundum atrial septal defect, Ventricular septal defect |
OMIM:620609 |
| Choanal Atresia |
|
Tracheomalacia, Polydactyly |
ORPHA:137914 |
| Hyperphosphatasia-Intellectual Disability Syndrome |
|
Bifid uvula, Clinodactyly, Anteriorly placed anus, Hydronephrosis, Aganglionic megacolon, High pa... |
ORPHA:247262 |
| Knobloch Syndrome 2 |
|
Micrognathia, Bronchial wall thickening, Enamel hypoplasia, Abnormal pulmonary interstitial morph... |
OMIM:618458 |
| Mitochondrial Complex Ii Deficiency, Nuclear Type 3 |
|
Dilated cardiomyopathy, Ketonuria, Aspiration pneumonia, Left ventricular noncompaction, Patent f... |
OMIM:619167 |
| Hypermethioninemia Due To Adenosine Kinase Deficiency |
|
Coarctation of aorta, Secundum atrial septal defect, Pulmonic stenosis |
OMIM:614300 |
| Kbg Syndrome |
|
Radial deviation of finger, Cervical ribs, Ulnar deviation of the 2nd finger, Thoracic kyphosis, ... |
OMIM:148050 |
| Lowry-Maclean Syndrome |
|
Atrioventricular canal defect, Coarctation of aorta |
ORPHA:2409 |
| Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
|
Secundum atrial septal defect, Partial atrioventricular canal defect, Ventricular septal defect, ... |
OMIM:620066 |
| Immunodeficiency 87 And Autoimmunity |
|
Atrophic gastritis, Dilated cardiomyopathy, Cervical lymphadenopathy, Lymphopenia, Decreased CD4:... |
OMIM:619573 |
| Vici Syndrome |
|
Dilated cardiomyopathy, Cardiomyopathy, Lymphopenia, Leukopenia, Micrognathia, Decreased proporti... |
OMIM:242840 |
| Exercise-Induced Malignant Hyperthermia |
|
Hyperkalemia, Hyperphosphatemia, Hypocalcemia, Elevated circulating creatine kinase concentration |
ORPHA:466650 |
| Multiple Endocrine Neoplasia, Type I |
|
Hypercalcemia, Increased circulating cortisol level, Hypoglycemia |
OMIM:131100 |
| Cardiomyopathy, Familial Hypertrophic, 11 |
|
Hypertrophic cardiomyopathy, Left ventricular hypertrophy, Atrial septal defect, Subaortic ventri... |
OMIM:612098 |
| Perlman Syndrome |
|
Interrupted aortic arch, Distal ileal atresia, Volvulus, Renal hamartoma, Micrognathia, Cryptorch... |
OMIM:267000 |
| Cystic Fibrosis |
|
Gastroesophageal reflux, Meconium ileus, Rectal prolapse, Nephrolithiasis, Pneumothorax, Steatorr... |
ORPHA:586 |
| Rubinstein-Taybi Syndrome |
|
Clubbing of toes, Broad thumb, Finger syndactyly, Abnormal distal phalanx morphology of finger, B... |
ORPHA:783 |
| Robin Sequence With Distinctive Facial Appearance And Brachydactyly |
|
Aplasia of the distal phalanx of the 5th finger, Microglossia, Exaggerated median tongue furrow, ... |
OMIM:608670 |
| Orotic Aciduria |
|
Oroticaciduria, Ventricular septal defect, Hematuria, Atrial septal defect, Orotic acid crystalluria |
OMIM:258900 |
| Fbln1-Related Developmental Delay-Central Nervous System Anomaly-Syndactyly Syndrome |
|
Congenital bilateral hip dislocation, Syndactyly |
ORPHA:404451 |
| Camptodactyly-Joint Contractures-Facial Skeletal Defects Syndrome |
|
Synostosis of carpal bones, Finger syndactyly, Camptodactyly of finger, Abnormal hip bone morphol... |
ORPHA:1323 |
| Nijmegen Breakage Syndrome |
|
Anal stenosis, Anal atresia, Anorectal anomaly, Pollakisuria, Cleft palate |
ORPHA:647 |
| Neurodevelopmental Disorder With Hypotonia And Speech Delay, With Or Without Seizures |
|
Small hand, Secundum atrial septal defect, Finger clinodactyly, Micrognathia, Phimosis, Chordee, ... |
OMIM:620455 |
| Stolerman Neurodevelopmental Syndrome |
|
Bifid uvula, Clinodactyly of the 5th finger, Broad palm, Pectus excavatum, Syndactyly |
OMIM:618505 |
| Bdv Syndrome |
|
Micropenis, Atrial septal defect, Micrognathia, Cryptorchidism |
OMIM:619326 |
| Blepharocheilodontic Syndrome 2 |
|
Cutaneous syndactyly |
OMIM:617681 |
| Combined Oxidative Phosphorylation Deficiency 25 |
|
Pectus carinatum, Intraventricular hemorrhage, Syndactyly |
OMIM:616430 |
| Mullegama-Klein-Martinez Syndrome |
|
Hypoplastic left heart, Bifid uvula, Submucous cleft of soft and hard palate, Polydactyly, Apical... |
OMIM:301022 |
| Moebius Syndrome |
|
Aplasia/Hypoplasia of the radius, Finger syndactyly, Aplasia/Hypoplasia of the tongue, Absent han... |
ORPHA:570 |
| Combined Oxidative Phosphorylation Deficiency 9 |
|
Hypertrophic cardiomyopathy, Tubulointerstitial nephritis, Patent foramen ovale |
OMIM:614582 |
| Holoprosencephaly 7 |
|
Median cleft palate, Bilateral cleft palate, Unilateral cleft palate, Omphalocele, Cleft palate |
OMIM:610828 |
| Hereditary Acrokeratotic Poikiloderma |
|
Xerostomia, Abnormality of the urethra, Oral leukoplakia, Camptodactyly of finger, Finger syndact... |
ORPHA:2907 |
| Primary Aldosteronism, Seizures, And Neurologic Abnormalities |
|
Biventricular hypertrophy, Patent foramen ovale, Nephrolithiasis, Ventricular septal defect, Left... |
OMIM:615474 |
| Blepharonasofacial Malformation Syndrome |
|
Finger syndactyly, Cleft palate |
ORPHA:1252 |
| Gabriele-De Vries Syndrome |
|
Sandal gap, Oral-pharyngeal dysphagia, Decreased response to growth hormone stimulation test, Bre... |
ORPHA:506358 |
| Hermansky-Pudlak Syndrome 6 |
|
Urinary incontinence, Anal atresia, Neurogenic bladder, Perineal fistula |
OMIM:614075 |
| Parathyroid Carcinoma |
|
Polydipsia, Hypercalcemia, Hypophosphatemia, Weight loss, Osteoporosis, Dysphagia |
ORPHA:143 |
| Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Weight loss, Hypercalcemia |
ORPHA:276621 |
| Glucagonoma |
|
Increased circulating cortisol level, Hepatomegaly, Weight loss, Anorexia, Steatorrhea, Hypercalc... |
ORPHA:97280 |
| Ritscher-Schinzel Syndrome 3 |
|
Atrioventricular canal defect |
OMIM:619135 |
| Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits |
|
Clinodactyly, Syndactyly |
OMIM:618087 |
| Anemia, Congenital Dyserythropoietic, Type Ib |
|
Syndactyly |
OMIM:615631 |
| Geleophysic Dysplasia 3 |
|
Pneumonia, Epiphyseal dysplasia, Tracheal stenosis, Limited elbow movement, Limb undergrowth, Bra... |
OMIM:617809 |
| Alzahrani-Kuwahara Syndrome |
|
Coronary sinus enlargement, Patent foramen ovale, Ventricular septal defect, Pulmonary artery sli... |
OMIM:619268 |
| Diamond-Blackfan Anemia 4 |
|
Atrial septal defect |
OMIM:612527 |
| 3Mc Syndrome 3 |
|
Clinodactyly, Preaxial polydactyly, Horseshoe kidney, Radioulnar synostosis, Penoscrotal hypospad... |
OMIM:248340 |
| Axenfeld-Rieger Syndrome, Type 3 |
|
Atrial septal defect, Patent ductus arteriosus |
OMIM:602482 |
| Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly |
|
Sandal gap, Micromelia, Broad hallux, Single transverse palmar crease, Brachydactyly, Syndactyly |
OMIM:614800 |
| Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome |
|
Palmoplantar keratoderma, Finger syndactyly, Supernumerary nipple, Abnormal dental enamel morphol... |
ORPHA:1071 |
| Craniodigital-Intellectual Disability Syndrome |
|
Finger syndactyly |
ORPHA:1514 |
| Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia |
|
Abnormal spinal cord morphology |
ORPHA:139578 |
| Ppoma |
|
Increased circulating cortisol level, Weight loss, Anorexia, Hepatomegaly, Hypercalcemia |
ORPHA:97278 |
| Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
|
Pectus carinatum, Single transverse palmar crease, Postaxial polydactyly, Palmoplantar hyperhidro... |
OMIM:617527 |
| Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1 |
|
Micrognathia, Ventricular septal defect, Hematuria, Proteinuria, Pes planus, Sagittal craniosynos... |
OMIM:616901 |
| Thalidomide Embryopathy |
|
Preaxial hand polydactyly, Radial club hand, Aplasia/hypoplasia of the humerus, Aplasia/Hypoplasi... |
ORPHA:3312 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
|
Anal atresia, Cleft palate |
OMIM:236670 |
| Combined Oxidative Phosphorylation Deficiency 15 |
|
Small hand, Inguinal hernia, Single transverse palmar crease, Ventricular septal defect, Ventricu... |
OMIM:614947 |
| Pili Torti-Onychodysplasia Syndrome |
|
Cutaneous syndactyly, Palmoplantar keratoderma, Cleft palate |
ORPHA:2890 |
| Spinal Cord Injury |
|
Hypercalcemia |
ORPHA:90058 |
| Familial Bicuspid Aortic Valve |
|
Aortic valve stenosis, Hypoplastic left heart, Aortic valve calcification, Thoracic aorta calcifi... |
ORPHA:402075 |
| Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities |
|
Bifid uvula, Secundum atrial septal defect, Short neck, Enamel hypoplasia, Pulmonic stenosis |
OMIM:615802 |
| Microphthalmia With Brain And Digit Anomalies |
|
High palate, Postaxial foot polydactyly, Proximal placement of thumb, Finger syndactyly |
ORPHA:139471 |
| Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency |
|
Aminoaciduria, High palate, Ketonuria, Syndactyly |
OMIM:614520 |
| Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3 |
|
Anal stenosis, Toe syndactyly, Hydroureter, Ureterocele, Ectrodactyly, Megacystis, Xerostomia, An... |
OMIM:604292 |
| Neuropathy, Hereditary Sensory And Autonomic, Type Vi |
|
Hand clenching, Gastroesophageal reflux, Corneal scarring, Ventricular septal defect, Talipes equ... |
OMIM:614653 |
| Acrofacial Dysostosis, Palagonia Type |
|
High, narrow palate, Short 4th metacarpal, Small hand, Finger syndactyly |
ORPHA:1787 |
| Neurodevelopmental Disorder With Language Delay And Seizures |
|
Ventricular septal defect |
OMIM:619908 |
| Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome |
|
Ventricular hypertrophy, Intracranial hemorrhage, Nephrolithiasis, Ventricular septal defect |
ORPHA:369929 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 7 |
|
Postaxial polydactyly, Proximal renal tubular acidosis |
OMIM:615824 |
| Meckel Syndrome |
|
Accessory spleen, Multicystic kidney dysplasia, Postaxial foot polydactyly, Aplasia/Hypoplasia of... |
ORPHA:564 |
| Arrhythmogenic Cardiomyopathy With Variable Ectodermal Abnormalities |
|
Dilated cardiomyopathy, Myofiber disarray, Patent foramen ovale, Ventricular septal defect, Bicus... |
OMIM:620519 |
| Histidinemia |
|
Hyperactivity, Hyperhistidinemia |
ORPHA:2157 |
| Hyperparathyroidism-Jaw Tumor Syndrome |
|
Polydipsia, Hypercalcemia, Hypophosphatemia, Osteoporosis, Dysphagia |
ORPHA:99880 |
| Adnp Syndrome |
|
Urinary incontinence, Broad thumb, Gastroesophageal reflux, Sandal gap, Broad hallux, Oral-pharyn... |
ORPHA:404448 |
| Stromme Syndrome |
|
Bilateral renal hypoplasia, Preaxial polydactyly, Intestinal malrotation, Jejunal atresia, Hydron... |
OMIM:243605 |
| Combined Oxidative Phosphorylation Deficiency 3 |
|
Dilated cardiomyopathy, Patent ductus arteriosus, Patent foramen ovale, Concentric hypertrophic c... |
OMIM:610505 |
| Diamond-Blackfan Anemia 5 |
|
Hypospadias, Ventricular septal defect |
OMIM:612528 |
| Pancreatic And Cerebellar Agenesis |
|
Pectus carinatum, Secundum atrial septal defect, Pancreatic hypoplasia, Overlapping fingers, Redu... |
OMIM:609069 |
| Early Infantile Epileptic Encephalopathy |
|
Ureterocele, Umbilical hernia, Short finger, Broad phalanx of the toes, Broad finger, Ventricular... |
ORPHA:1934 |
| Msh3-Related Attenuated Familial Adenomatous Polyposis |
|
Stomach cancer, Juvenile gastrointestinal polyposis, Multiple gastric polyps, Renal cyst, Neoplas... |
ORPHA:480536 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Hypertrophic cardiomyopathy, Persistent left superior vena cava, Pericardial effusion, Ventricula... |
OMIM:618775 |
| Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome |
|
Synostosis of carpal bones, Finger syndactyly, Short middle phalanx of finger, Brachydactyly, Cli... |
ORPHA:1005 |
| Severe Achondroplasia-Developmental Delay-Acanthosis Nigricans Syndrome |
|
Abnormal clavicle morphology, Fibular bowing, Femoral bowing, Tibial bowing, Metaphyseal chondrod... |
ORPHA:85165 |
| Bifid Nose With Or Without Anorectal And Renal Anomalies |
|
Unilateral renal agenesis, Rectovaginal fistula, Ebstein anomaly of the tricuspid valve, Anterior... |
OMIM:608980 |
| Rothmund-Thomson Syndrome, Type 3 |
|
Short distal phalanx of finger, Talipes equinovarus, Short digit, Brachydactyly, Proximal placeme... |
OMIM:615789 |
| Vascular Ehlers-Danlos Syndrome |
|
Cryptorchidism, Mitral valve prolapse, Abnormal intestine morphology, Talipes equinovarus, Spreng... |
ORPHA:286 |
| Tukel Syndrome |
|
Carpal bone aplasia, Syndactyly, Carpal synostosis, Postaxial oligodactyly |
OMIM:609428 |
| Lissencephaly 9 With Complex Brainstem Malformation |
|
Dysphagia, Ventricular septal defect |
OMIM:618325 |
| Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome |
|
Scoliosis, Atrial septal defect, Thrombocytopenia |
ORPHA:457351 |
| Saethre-Chotzen Syndrome |
|
Partial duplication of the distal phalanx of the 3rd finger, Absent first metatarsal, Abnormal pe... |
OMIM:101400 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Anal fissure, Crohn's disease, Perianal abscess, Nephrotic syndrome, Ulcerative colitis |
OMIM:618935 |
| 8Q22.1 Microdeletion Syndrome |
|
Sandal gap, Finger syndactyly, Submucous cleft hard palate, Camptodactyly of finger |
ORPHA:178303 |
| X-Linked Intellectual Disability, Golabi-Ito-Hall Type |
|
Macroglossia, Atrial septal defect |
ORPHA:93947 |
| T-Cell Immunodeficiency With Thymic Aplasia |
|
Hypocalcemic tetany, Failure to thrive |
ORPHA:83471 |
| Lymphatic Malformation 13 |
|
Atrial septal defect, Hydrocele testis, Patent ductus arteriosus, Patent foramen ovale |
OMIM:620244 |
| Methylcobalamin Deficiency Type Cble |
|
Clinodactyly, Hemolytic-uremic syndrome, Syndactyly |
ORPHA:2169 |
| Aica-Ribosiduria Due To Atic Deficiency |
|
Secundum atrial septal defect, Elevated urinary 5-amino-4-imidazolecarboxamide-riboside level |
OMIM:608688 |
| Intellectual Developmental Disorder, Autosomal Recessive 72 |
|
Secundum atrial septal defect |
OMIM:618665 |
| Encephalocraniocutaneous Lipomatosis |
|
Aortic valve stenosis, Interrupted aortic arch, Abnormal aortic morphology, Tricuspid valve prola... |
ORPHA:2396 |
| Grfoma |
|
Increased circulating cortisol level, Weight loss, Anorexia, Hepatomegaly, Hypercalcemia |
ORPHA:97261 |
| Li-Fraumeni Syndrome |
|
Stomach cancer, Neoplasm of the gastrointestinal tract, Neoplasm of the rectum, Acute myeloid leu... |
ORPHA:524 |
| Axenfeld-Rieger Syndrome |
|
Anal stenosis, Hypospadias |
ORPHA:782 |
| Osteopetrosis, Autosomal Recessive 7 |
|
Abnormal trabecular bone morphology, Splenomegaly, Osteopetrosis, Hepatomegaly, Hypocalcemic seiz... |
OMIM:612301 |
| Culler-Jones Syndrome |
|
Postaxial polydactyly, Micropenis, Cleft palate |
OMIM:615849 |
| Long Qt Syndrome 8 |
|
Syndactyly |
OMIM:618447 |
| Hereditary Pheochromocytoma-Paraganglioma |
|
Weight loss, Hypercalcemia |
ORPHA:29072 |
| Proboscis Lateralis |
|
Unilateral renal agenesis, Duplication of renal pelvis, Ureteral agenesis, Ventricular septal def... |
ORPHA:141099 |
| Chromosome 8Q21.11 Deletion Syndrome |
|
Micropenis, Syndactyly, Camptodactyly, High palate, Short metacarpal, Cleft palate, Absent palmar... |
OMIM:614230 |
| Hereditary Mixed Polyposis Syndrome |
|
Hematochezia, Colon cancer, Adenomatous colonic polyposis, Duodenal adenocarcinoma, Hyperplastic ... |
ORPHA:157794 |
| Knobloch Syndrome 1 |
|
Bifid ureter, Hydronephrosis, Spina bifida occulta, Patent ductus arteriosus, Pyloric stenosis |
OMIM:267750 |
| Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities |
|
High, narrow palate, Hematochezia, Peripheral pulmonary artery stenosis, Renal tubular acidosis, ... |
OMIM:619575 |
| Lynch Syndrome |
|
Gastrointestinal hemorrhage, Pituitary adenoma, Cardiac diverticulum, Pancreatic adenocarcinoma, ... |
ORPHA:144 |
| Myoclonic-Astatic Epilepsy |
|
Syndactyly |
ORPHA:1942 |
| Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form |
|
Chronic kidney disease, Dilated cardiomyopathy, Gastroesophageal reflux, Urinary bladder sphincte... |
ORPHA:79408 |
| Primary Sjögren Syndrome |
|
Arteritis, Xerostomia, Lymphopenia, Decreased proportion of CD4-positive helper T cells, Lymphocy... |
ORPHA:289390 |
| Saethre-Chotzen Syndrome |
|
Broad thumb, Finger syndactyly, Bilateral single transverse palmar creases, Triphalangeal thumb, ... |
ORPHA:794 |
| Neuroocular Syndrome 1 |
|
Genu recurvatum, Short uvula, Prominent fingertip pads, Umbilical hernia, Tibial torsion, Ankylog... |
OMIM:619539 |
| Bardet-Biedl Syndrome |
|
Fifth finger distal phalanx clinodactyly, Chronic kidney disease, Inflammation of the large intes... |
ORPHA:110 |
| Choroidal Atrophy-Alopecia Syndrome |
|
Finger syndactyly |
ORPHA:1433 |
| Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
High, narrow palate, Short uvula, Dilatation of the cerebral artery, Ankyloglossia, Genu valgum, ... |
OMIM:619475 |
| Cleft Lip/Palate-Ectodermal Dysplasia Syndrome |
|
Toe syndactyly, Finger syndactyly, Abnormality of the ureter, Bilateral single transverse palmar ... |
ORPHA:3253 |
| Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome |
|
Gastroesophageal reflux, Patent foramen ovale |
ORPHA:542306 |
| Ebstein Anomaly |
|
Ebstein anomaly of the tricuspid valve, Atrial septal defect |
OMIM:224700 |
| Lenz-Majewski Hyperostotic Dwarfism |
|
Abnormal penis morphology, Aplastic clavicle, Hypospadias, High, narrow palate, Bifid uvula, Fing... |
ORPHA:2658 |
| Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
|
Accessory spleen, Microretrognathia, Polysplenia, Splenomegaly, Ventricular septal defect, Multip... |
OMIM:619418 |
| Zollinger-Ellison Syndrome |
|
Weight loss, Hypercalcemia, Increased circulating cortisol level, Increased glucagon level |
ORPHA:913 |
| Neurofibromatosis-Noonan Syndrome |
|
Secundum atrial septal defect, Cryptorchidism, Pectus excavatum of inferior sternum, Cubitus valg... |
OMIM:601321 |
| Autosomal Dominant Robinow Syndrome |
|
Finger syndactyly, Elbow dislocation, Short palm, Hypospadias, Hip dislocation, Epispadias, Abnor... |
ORPHA:3107 |
| Pheochromocytoma |
|
Hypercalcemia |
OMIM:171300 |
| Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome |
|
Short thumb, Supernumerary nipple, Cryptorchidism, Patent foramen ovale, Chordee, Brachydactyly, ... |
ORPHA:477993 |
| Alstrom Syndrome |
|
Nephritis, Dilated cardiomyopathy, Atherosclerosis, Renal insufficiency, Polydactyly, Tubulointer... |
OMIM:203800 |
| Kindler Syndrome |
|
Anal stenosis, Oral leukoplakia, Phimosis, Palmoplantar hyperkeratosis, Dysphagia, Esophageal ste... |
OMIM:173650 |
| Isolated Posterior Meningocele |
|
Hydrocephalus, Lipomyelomeningocele, Meningocele, Occipital meningocele, Neural tube defect |
ORPHA:268810 |
| Beare-Stevenson Cutis Gyrata Syndrome |
|
Bifid uvula, Narrow palate, Anteriorly placed anus, Overlapping toe, Limited elbow extension, Pal... |
OMIM:123790 |
| Relapsing Polychondritis |
|
Anteriorly placed anus, Large vessel vasculitis, Renal insufficiency, Abnormal aortic valve morph... |
ORPHA:728 |
| Adrenomyeloneuropathy |
|
Urinary retention, Leg muscle stiffness, Urinary bladder sphincter dysfunction, Back pain, Adreno... |
ORPHA:139399 |
| Gastrointestinal Stromal Tumor |
|
Gastrointestinal hemorrhage, Neoplasm of the colon, Esophageal neoplasm, Intestinal obstruction, ... |
ORPHA:44890 |
| Multiple Endocrine Neoplasia Type 4 |
|
Increased circulating cortisol level, Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hy... |
ORPHA:276152 |
| Neu-Laxova Syndrome 2 |
|
Toe syndactyly, Finger syndactyly, High palate, Rocker bottom foot, Cleft palate |
OMIM:616038 |
| Rapp-Hodgkin Syndrome |
|
2-3 toe cutaneous syndactyly, Bifid uvula, Palmoplantar keratoderma, Velopharyngeal insufficiency... |
OMIM:129400 |
| 8Q21.11 Microdeletion Syndrome |
|
Finger syndactyly, Camptodactyly of finger, Abnormal metacarpal morphology, High palate, Hypoplas... |
ORPHA:284160 |
| Prader-Willi Syndrome |
|
Small hand, Radial deviation of finger, Clinodactyly, Genu valgum, Narrow palm, Micropenis, Hip d... |
OMIM:176270 |
| Fraser Syndrome 3 |
|
Short toe, Ureteral agenesis, Tracheal atresia, Cutaneous syndactyly, Hypoplasia of penis |
OMIM:617667 |
| Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis |
|
Joint contracture of the hand, Carpal synostosis, Humeroradial synostosis, Cryptorchidism, Ovaria... |
OMIM:201750 |
| Mitchell-Riley Syndrome |
|
Meckel diverticulum, Anteriorly placed anus, Intestinal malrotation, Jejunal atresia, Acholic sto... |
OMIM:615710 |
| Axenfeld-Rieger Syndrome, Type 1 |
|
Anal atresia, Hypospadias, Anal stenosis |
OMIM:180500 |
| Granulomatous Disease, Chronic, X-Linked |
|
Cellulitis, Recurrent pneumonia, Lymphadenitis, Atelectasis, Impaired oxidative burst, Pleural ef... |
OMIM:306400 |
| Leigh Syndrome |
|
Generalized aminoaciduria, Methylmalonic aciduria, Hypertrophic cardiomyopathy, Renal tubular aci... |
ORPHA:506 |
| Eec Syndrome |
|
Hypospadias, Toe syndactyly, Xerostomia, Finger syndactyly, Ectrodactyly, Vesicoureteral reflux, ... |
ORPHA:1896 |
| Superficial Siderosis |
|
Arteriovenous malformation, Functional abnormality of the bladder, Abnormal vertebral artery morp... |
ORPHA:247245 |
| Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies |
|
Right atrial enlargement, Atrial septal defect |
OMIM:615219 |
| Histiocytoid Cardiomyopathy |
|
Stroke-like episode, Polycystic ovaries, Pulmonary edema, Renal cyst, Ventricular septal defect, ... |
ORPHA:137675 |
| Neonatal Inflammatory Skin And Bowel Disease |
|
Left ventricular hypertrophy, Perianal dermatitis, Recurrent gastroenteritis, Anal fissure |
ORPHA:294023 |
| Distal Deletion 3P |
|
Atrioventricular canal defect |
ORPHA:1620 |
| Scalp-Ear-Nipple Syndrome |
|
Unilateral renal agenesis, Renal hypoplasia, Broad thumb, Bifid uvula, Finger syndactyly, Pyelone... |
OMIM:181270 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 1 |
|
Cellulitis, Recurrent pneumonia, Lymphadenitis, Impaired oxidative burst, Splenomegaly, Lymphaden... |
OMIM:233700 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 2 |
|
Cellulitis, Recurrent pneumonia, Lymphadenitis, Impaired oxidative burst, Splenomegaly, Lymphaden... |
OMIM:233710 |
| Oculotrichoanal Syndrome |
|
Anal stenosis, Anteriorly placed anus |
ORPHA:2717 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 4 |
|
Cellulitis, Recurrent pneumonia, Lymphadenitis, Impaired oxidative burst, Splenomegaly, Lymphaden... |
OMIM:233690 |
| Agammaglobulinemia 1, Autosomal Recessive |
|
Recurrent pneumonia, Rectal abscess, Recurrent sinusitis, Neutropenia, B lymphocytopenia, Recurre... |
OMIM:601495 |
| Carney Complex |
|
Euthyroid multinodular goiter, Increased circulating prolactin concentration, Neoplasm of the pan... |
ORPHA:1359 |
| Limb-Mammary Syndrome |
|
Bifid uvula, Toe syndactyly, Oligodactyly, Submucous cleft soft palate, Cleft hard palate, Clinod... |
ORPHA:69085 |
| Multiple Endocrine Neoplasia Type 1 |
|
Increased circulating cortisol level, Primary hypercortisolism, Reduced bone mineral density, Wei... |
ORPHA:652 |
| Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome |
|
Palmoplantar keratoderma, Anteriorly placed anus, Palmoplantar cutis gyrata, Narrow palate, Cleft... |
ORPHA:1555 |
| Branchioskeletogenital Syndrome |
|
Bifid uvula, Ureteral stenosis, Anteriorly placed anus, Upper limb peromelia, Submucous cleft har... |
ORPHA:1299 |
| Rothmund-Thomson Syndrome, Type 2 |
|
Congenital hip dislocation, Small hand, Short thumb, Anteriorly placed anus, Talipes equinovarus,... |
OMIM:268400 |
| 14Q22Q23 Microdeletion Syndrome |
|
Renal hypoplasia, Toe syndactyly, Finger syndactyly, Short 5th metacarpal, Bilateral single trans... |
ORPHA:264200 |
| Hypertelorism-Hypospadias-Polysyndactyly Syndrome |
|
Abnormal penis morphology, Broad thumb, Finger syndactyly, Preaxial hand polydactyly, Epispadias,... |
ORPHA:2211 |
| Lacrimoauriculodentodigital Syndrome 1 |
|
Bilateral triphalangeal thumbs, Nephrosclerosis, Xerostomia, Short thumb, Broad hallux, Preaxial ... |
OMIM:149730 |
| Microphthalmia, Syndromic 6 |
|
Bifid uvula, Renal hypoplasia, Toe syndactyly, Microglossia, Finger syndactyly, Thumb contracture... |
OMIM:607932 |
| Semilobar Holoprosencephaly |
|
Bifid uvula, Median cleft upper lip, Solitary median maxillary central incisor, Cleft palate, Hyd... |
ORPHA:220386 |
| Alobar Holoprosencephaly |
|
Bifid uvula, Median cleft upper lip, Solitary median maxillary central incisor, Cleft palate, Hyd... |
ORPHA:93925 |
| Midline Interhemispheric Variant Of Holoprosencephaly |
|
Bifid uvula, Median cleft upper lip, Solitary median maxillary central incisor, Cleft palate, Hyd... |
ORPHA:93926 |
| Lobar Holoprosencephaly |
|
Bifid uvula, Median cleft upper lip, Solitary median maxillary central incisor, Cleft palate, Hyd... |
ORPHA:93924 |
| Autosomal Recessive Faciodigitogenital Syndrome |
|
Finger syndactyly, Down-sloping shoulders, Brachydactyly, Clinodactyly of the 5th finger, High pa... |
ORPHA:1974 |
| Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum |
|
Pneumonia, Moderate albuminuria, Acute kidney injury, Abnormal penis morphology, Xerostomia, Atyp... |
ORPHA:95455 |
| Friedreich Ataxia 2 |
|
Muscular subvalvular aortic stenosis, Concentric hypertrophic cardiomyopathy, Abnormality of the ... |
OMIM:601992 |
| Trichothiodystrophy 4, Nonphotosensitive |
|
Ventricular septal defect |
OMIM:234050 |
| Malakoplakia |
|
Urinary bladder inflammation, Neoplasm of the colon, Urinary hesitancy, Follicular hyperplasia, O... |
ORPHA:556 |
| Xerosis And Growth Failure With Immune And Pulmonary Dysfunction Syndrome |
|
Left ventricular hypertrophy, Atrial septal defect |
OMIM:620510 |
| Cntnap2-Related Developmental And Epileptic Encephalopathy |
|
Preaxial polydactyly |
ORPHA:163681 |
| Monosomy 22 |
|
Finger syndactyly, Single transverse palmar crease, Micropenis, Clinodactyly of the 5th finger, H... |
ORPHA:96123 |
| Bloom Syndrome |
|
Clinodactyly of the 5th finger, Hand polydactyly, Bronchiectasis, Syndactyly |
OMIM:210900 |
| 3-Methylglutaconic Aciduria, Type Viii |
|
3-Methylglutaric aciduria, 3-Methylglutaconic aciduria, Neutropenia, Dysphagia, Patent ductus art... |
OMIM:617248 |
| Retinitis Pigmentosa 74 |
|
Polydactyly |
OMIM:616562 |
| Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis |
|
Abnormally low T cell receptor excision circle level, Reduction of neutrophil motility, Rectal ab... |
OMIM:608203 |
| Cerebrooculonasal Syndrome |
|
Postaxial polydactyly, High palate, Postaxial hand polydactyly, Narrow palate, Cleft palate |
OMIM:605627 |
| Incontinentia Pigmenti |
|
Deviation of finger, Finger syndactyly, Camptodactyly of finger, Abnormal hand morphology, Absent... |
ORPHA:464 |
| White-Kernohan Syndrome |
|
Gastroesophageal reflux, Hydroureter, Anteriorly placed anus, Horseshoe kidney, Hydronephrosis, H... |
OMIM:619426 |
| X-Linked Cerebral Adrenoleukodystrophy |
|
Myelopathy, Hamstring contractures, Ankle clonus, Abnormal spinal cord morphology, Dysphagia |
ORPHA:139396 |
| Congenital Disorder Of Glycosylation, Type Iim |
|
Gastroesophageal reflux, Ureteropelvic junction obstruction, Enamel hypoplasia, Atrial septal def... |
OMIM:300896 |
| Multiple Mitochondrial Dysfunctions Syndrome 7 |
|
Partial atrioventricular canal defect |
OMIM:620423 |
| Craniofrontonasal Dysplasia-Poland Anomaly Syndrome |
|
Aplasia/Hypoplasia involving the shoulder musculature, High palate, Unilateral brachydactyly, Syn... |
ORPHA:1521 |
| Adult Syndrome |
|
Toe syndactyly, Finger syndactyly, Split foot |
ORPHA:978 |
| Microcephaly-Lymphedema-Chorioretinopathy Syndrome |
|
Cellulitis, Chylothorax, Pleural effusion, Atrial septal defect, Leukemia, Panniculitis |
ORPHA:2526 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
|
Ketonuria, Bilateral superior vena cava, Anteriorly placed anus, Hypertrophic cardiomyopathy, Mit... |
OMIM:220111 |
| Amoebiasis Due To Free-Living Amoebae |
|
Pneumonia, Myocardial necrosis, Increased red blood cell count, Respiratory tract infection, Abno... |
ORPHA:68 |
| Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia |
|
Flexion contracture, Ventricular septal defect |
OMIM:619306 |
| Polymerase Proofreading-Related Adenomatous Polyposis |
|
Adenocarcinoma of the colon, Neoplasm of the rectum, Colorectal polyposis, Adenomatous colonic po... |
ORPHA:447877 |
| Multiple Endocrine Neoplasia Type 2 |
|
Hypercalcemia |
ORPHA:653 |
| Nthl1-Related Attenuated Familial Adenomatous Polyposis |
|
Pancreatic adenocarcinoma, Duodenal adenocarcinoma, Ovarian cyst, Neoplasm of the rectum, Adenoma... |
ORPHA:454840 |
| Acute Disseminated Encephalomyelitis |
|
Myelitis, Abnormal spinal cord morphology |
ORPHA:83597 |
| Anemia, Congenital Dyserythropoietic, Type Ia |
|
Syndactyly |
OMIM:224120 |
| Proteus Syndrome |
|
Macrodactyly, Asymmetry of the thorax, Rib exostoses, Long penis, Arteriovenous malformation, Fin... |
ORPHA:744 |
| Sarcoidosis |
|
Hepatomegaly, Weight loss, Hypercalcemia, Bone cyst |
ORPHA:797 |
| Hartsfield Syndrome |
|
Ectrodactyly, Micropenis, Hypospadias, Cleft palate, Syndactyly |
OMIM:615465 |
| Monosomy 13Q14 |
|
Finger syndactyly, Aplasia/Hypoplasia of the thumb, Abnormality of the gastrointestinal tract, Br... |
ORPHA:1587 |
| Leukocyte Adhesion Deficiency, Type I |
|
Leukocytosis, Rectal abscess |
OMIM:116920 |
| Hypothyroidism, Congenital, Nongoitrous, 5 |
|
Patent foramen ovale |
OMIM:225250 |
| Mismatch Repair Cancer Syndrome 3 |
|
Neoplasm of the rectum, Colon cancer |
OMIM:619097 |
| Combined Pituitary Hormone Deficiencies, Genetic Forms |
|
Abnormal digit morphology, Median cleft palate, Polydactyly |
ORPHA:95494 |
| Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome |
|
Renal cyst, Gastroesophageal reflux, Hypospadias, Anteriorly placed anus |
ORPHA:495875 |
