| Thalassemia, Beta+, Silent Allele |
|
Reduced beta/alpha synthesis ratio |
OMIM:187550 |
| Fetal Hemoglobin Quantitative Trait Locus 1 |
|
Persistence of hemoglobin F |
OMIM:141749 |
| Hemoglobin-Delta locus |
|
Anemia, Imbalanced hemoglobin synthesis |
OMIM:142000 |
| Atr-16 syndrome |
|
Abnormal erythrocyte morphology |
DECIPHER:65 |
| Diamond-Blackfan Anemia-Like |
|
Steroid-responsive anemia, Pure red cell aplasia |
OMIM:617911 |
| Acetophenetidin Sensitivity |
|
Methemoglobinemia, Hemolytic anemia |
OMIM:200300 |
| Hemoglobin E-Beta-Thalassemia Syndrome |
|
Anemia, Abnormal hemoglobin |
ORPHA:231249 |
| Hemoglobin D Disease |
|
Reduced beta/alpha synthesis ratio, Reduced hemoglobin A, Imbalanced hemoglobin synthesis, Spleno... |
ORPHA:90039 |
| Diamond-Blackfan Anemia 19 |
|
Anemia, Erythroid hypoplasia, Steroid-responsive anemia |
OMIM:618312 |
| Delta-Beta-Thalassemia |
|
Anemia, Microcytic anemia, Abnormal hemoglobin |
ORPHA:231237 |
| Transient Erythroblastopenia Of Childhood |
|
Anemia, Transient erythroblastopenia |
OMIM:227050 |
| Hemoglobin C-Beta-Thalassemia Syndrome |
|
Anemia, Splenomegaly, Microcytic anemia, Abnormal hemoglobin |
ORPHA:231242 |
| Methemoglobinemia, Beta Type |
|
Methemoglobinemia |
OMIM:617971 |
| Methemoglobinemia, Alpha Type |
|
Methemoglobinemia |
OMIM:617973 |
| Hemoglobin H Disease |
|
Splenomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin |
OMIM:613978 |
| Beta-Thalassemia, Dominant Inclusion Body Type |
|
Persistence of hemoglobin F, Microcytic anemia, Splenomegaly, Erythrocyte inclusion bodies, Incre... |
OMIM:603902 |
| Alpha-Thalassemia Myelodysplasia Syndrome |
|
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia |
OMIM:300448 |
| Verheij Syndrome |
|
Wide nasal bridge, Short 5th finger, Broad nasal tip, Branchial cyst, Clinodactyly, Intrauterine ... |
OMIM:615583 |
| Beta-Thalassemia |
|
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia |
OMIM:613985 |
| Alpha-Thalassemia |
|
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia |
OMIM:604131 |
| Anemia, Sideroblastic, 4 |
|
Sideroblastic anemia, Abnormal erythrocyte morphology |
OMIM:182170 |
| Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1 |
|
Low-set ears, Arrhythmia, Short nose, Osteopenia, Short toe, Delayed skeletal maturation, Promine... |
OMIM:617877 |
| Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Anemia, Splenomegaly, Thrombocytopenia, Abnormal hemoglobin |
ORPHA:231393 |
| Heinz Body Anemias |
|
Heinz bodies, Nonspherocytic hemolytic anemia, Heinz body anemia |
OMIM:140700 |
| Hemoglobin E Disease |
|
Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Splenomega... |
ORPHA:2133 |
| Hoxha-Aliu Syndrome |
|
Low-set ears, Abnormal vertebral morphology, Overlapping toe, Broad foot, Absent fifth metatarsal... |
OMIM:620662 |
| Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome |
|
Short distal phalanx of finger, Underdeveloped nasal alae, Intrauterine growth retardation, Joint... |
ORPHA:2516 |
| Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Shallow acetabular fossae, Toe syndactyly, Hearing impairment, Broad thumb, Hypoplastic iliac win... |
OMIM:609945 |
| 14Q24.1Q24.3 Microdeletion Syndrome |
|
Wide nasal bridge, Short thumb, Abnormal heart morphology, Prominent nasal bridge, Limited elbow ... |
ORPHA:401935 |
| Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3 |
|
Hypoplastic left heart, Anomalous origin of left coronary artery from the pulmonary artery, Verte... |
OMIM:618845 |
| Sandestig-Stefanova Syndrome |
|
Low-set ears, Wide nasal bridge, Clinodactyly, Muscular ventricular septal defect, Underdeveloped... |
OMIM:618804 |
| Adenylate Kinase Deficiency, Hemolytic Anemia Due To |
|
Hemolytic anemia, Reduced erythrocyte adenylate kinase activity |
OMIM:612631 |
| Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Anemia, Splenomegaly, Persistence of hemoglobin F |
ORPHA:46532 |
| Recombinant Chromosome 8 Syndrome |
|
Low-set ears, Depressed nasal bridge, Joint contracture of the hand, Hearing impairment, Tetralog... |
OMIM:179613 |
| Ritscher-Schinzel Syndrome 1 |
|
Aortic valve stenosis, Hypoplastic left heart, Low-set ears, Depressed nasal bridge, Tetralogy of... |
OMIM:220210 |
| Emanuel Syndrome |
|
Aortic valve stenosis, Low-set ears, Hearing impairment, Recurrent otitis media, Micrognathia, Co... |
OMIM:609029 |
| Heart Defects-Limb Shortening Syndrome |
|
Narrow chest, Disproportionate short stature, Abnormal form of the vertebral bodies, Abnormal tri... |
ORPHA:1354 |
| Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Broad thumb, Hearing impairment, Thoracic hemivertebrae, Overlapping toe, Micrognathia, Ventricul... |
ORPHA:508498 |
| Snijders Blok-Campeau Syndrome |
|
Low-set ears, Wide nasal bridge, Umbilical hernia, Abnormal foot morphology, Prominent nose, Asti... |
OMIM:618205 |
| Emanuel Syndrome |
|
Aortic valve stenosis, Low-set ears, Hearing impairment, Recurrent otitis media, Micrognathia, Co... |
ORPHA:96170 |
| Diamond-Blackfan Anemia 3 |
|
Increased mean corpuscular volume, Elevated red cell adenosine deaminase activity, Persistence of... |
OMIM:610629 |
| Laurin-Sandrow Syndrome |
|
Toe syndactyly, Limitation of joint mobility, Finger syndactyly, Talipes, Aplasia/Hypoplasia of t... |
ORPHA:2378 |
| Charge Syndrome |
|
Low-set ears, Postnatal growth retardation, Micrognathia, Ventricular septal defect, Sensorineura... |
OMIM:214800 |
| Isolated Klippel-Feil Syndrome |
|
Hearing impairment, Abnormality of the vertebral column, Abnormal shoulder morphology, Congenital... |
ORPHA:2345 |
| Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs |
|
Short distal phalanx of finger, Hydranencephaly, Underdeveloped nasal alae, Ventricular septal de... |
OMIM:601355 |
| Distal 22Q11.2 Microdeletion Syndrome |
|
Toe syndactyly, Abnormal earlobe morphology, Ventricular septal defect, Sensorineural hearing imp... |
ORPHA:261330 |
| Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies |
|
Low-set ears, Overlapping toe, Overlapping fingers, Ventricular septal defect, Atrial septal defe... |
OMIM:618316 |
| Phaver Syndrome |
|
Low-set ears, Aplasia/Hypoplasia of the earlobes, Broad thumb, Ventricular septal defect, Radioul... |
ORPHA:2876 |
| Cyanosis, Transient Neonatal |
|
Anemia, Methemoglobinemia, Reticulocytosis |
OMIM:613977 |
| Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency |
|
Prelingual sensorineural hearing impairment, Clinodactyly, Delayed skeletal maturation, Small pla... |
ORPHA:73272 |
| Greenberg Dysplasia |
|
Low-set ears, Fractured rib, Postaxial foot polydactyly, Supernumerary vertebral ossification cen... |
OMIM:215140 |
| Placental Insufficiency |
|
Abnormal umbilical cord blood vessel morphology, Abnormal heart morphology, Small placenta, Intra... |
ORPHA:439167 |
| Woronets Trait |
|
Red blood cell keratocytosis |
OMIM:194320 |
| Cardiospondylocarpofacial Syndrome |
|
Low-set ears, Carpal synostosis, Recurrent otitis media, Congenital diaphragmatic hernia, Mitral ... |
OMIM:157800 |
| Congenital Heart Defects, Multiple Types, 9 |
|
Aortopulmonary collateral arteries, Hypoplastic left heart, Unbalanced atrioventricular canal def... |
OMIM:620294 |
| Stankiewicz-Isidor Syndrome |
|
Low-set ears, Absent thumb, Hearing impairment, Short thumb, Prominent nose, Micrognathia, Ventri... |
OMIM:617516 |
| Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Cone-shaped epiphysis, Thoracic hypoplasia, Metaphyseal spurs, Preaxial polydactyly, Acetabular s... |
OMIM:613091 |
| Scimitar Syndrome |
|
Abnormal hemidiaphragm morphology, Anomalous origin of left coronary artery from the pulmonary ar... |
ORPHA:185 |
| Occipital Horn Syndrome |
|
Synostosis of joints, Delayed cranial suture closure, Osteomalacia, Humerus varus, Genu valgum, P... |
ORPHA:198 |
| Femoral-Facial Syndrome |
|
Low-set ears, Toe syndactyly, Micrognathia, Encephalocele, Humeroradial synostosis, Ventricular s... |
OMIM:134780 |
| Holt-Oram Syndrome |
|
Hypoplastic scapulae, Short forearm, Elbow dislocation, Radial bowing, Micrognathia, Atrioventric... |
OMIM:142900 |
| Mesomelic Dysplasia, Savarirayan Type |
|
Short forearm, Short tibia, Abnormal foot morphology, Talipes equinovalgus, Mesomelic leg shorten... |
OMIM:605274 |
| Chromosome 22Q11.2 Deletion Syndrome, Distal |
|
Short stature, Intrauterine growth retardation, Underdeveloped nasal alae, Truncus arteriosus |
OMIM:611867 |
| Tibial Hemimelia |
|
Aplasia of the 2nd metacarpal, Hearing impairment, Short tibia, Radial club hand, Cutaneous finge... |
ORPHA:93322 |
| Chromosome 9P Deletion Syndrome |
|
Low-set ears, Micrognathia, Ventricular septal defect, Short neck, Pes planus, Atrial septal defe... |
OMIM:158170 |
| Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly |
|
Low-set ears, Depressed nasal bridge, Popliteal pterygium, Patellar hypoplasia, Preaxial foot pol... |
OMIM:119800 |
| Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Abnormal hand morphology, Mitral valve prolapse, Ventricular septal defect, Bicuspid aortic valve... |
ORPHA:371428 |
| Mosaic Trisomy 16 |
|
Short forearm, Hearing impairment, Abnormality of the nose, Clinodactyly, Abnormal heart morpholo... |
ORPHA:1708 |
| Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects |
|
Low-set ears, Choanal atresia, Muscular ventricular septal defect, Butterfly vertebrae, Sprengel ... |
OMIM:619227 |
| Sotos Syndrome |
|
Low-set ears, Long metacarpals, Genu valgum, Ventricular septal defect, Pes planus, Long phalanx ... |
OMIM:117550 |
| Acrocardiofacial Syndrome |
|
Low-set ears, Wide nasal bridge, Toe syndactyly, Joint dislocation, Finger syndactyly, Camptodact... |
ORPHA:2008 |
| Congenital Disorder Of Glycosylation, Type Ih |
|
Low-set ears, Intrauterine growth retardation, Oligohydramnios, Decreased fetal movement, Neonata... |
OMIM:608104 |
| Metatropic Dysplasia |
|
Epiphyseal dysplasia, Hypoplasia of the odontoid process, Caudal appendage, Genu valgum, Dispropo... |
OMIM:156530 |
| Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome |
|
Pectus carinatum, Premature birth, Delayed skeletal maturation, Finger syndactyly, Radioulnar syn... |
ORPHA:3268 |
| Aarskog-Scott Syndrome |
|
Small hand, Finger syndactyly, Megalocornea, Broad foot, Talipes, Short neck, Pes planus, Short f... |
ORPHA:915 |
| Spondylocostal Dysostosis 4, Autosomal Recessive |
|
Vertebral artery hypoplasia, Block vertebrae, Aplasia of posterior communicating artery, Short th... |
OMIM:613686 |
| Cleft Palate, Cardiac Defects, And Impaired Intellectual Development |
|
Low-set ears, Short 5th finger, Broad thumb, Secundum atrial septal defect, Sandal gap, Broad hal... |
OMIM:600987 |
| Multiple Pterygium Syndrome, X-Linked |
|
Low-set ears, Depressed nasal ridge, Thin ribs, Joint dislocation, Short finger, Hypoplastic hear... |
OMIM:312150 |
| Neu-Laxova Syndrome 1 |
|
Low-set ears, Joint contracture of the hand, Toe syndactyly, Finger syndactyly, Clinodactyly, Mic... |
OMIM:256520 |
| Larsen Syndrome |
|
Hypoplastic cervical vertebrae, Hearing impairment, Elbow dislocation, Ventricular septal defect,... |
OMIM:150250 |
| Holt-Oram Syndrome |
|
Broad thumb, Finger syndactyly, Ventricular septal defect, Radioulnar synostosis, Sprengel anomal... |
ORPHA:392 |
| 7Q31 Microdeletion Syndrome |
|
Low-set ears, Skeletal muscle atrophy, Clinodactyly of the 2nd finger, Delayed skeletal maturatio... |
ORPHA:251061 |
| Congenital Amegakaryocytic Thrombocytopenia |
|
Anemia, Abnormal hemoglobin, Thrombocytopenia |
ORPHA:3319 |
| Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin |
|
Poikilocytosis, Oval macrocytosis, Anemia of inadequate production, Anisocytosis |
OMIM:603529 |
| Fibular Hemimelia |
|
Toe syndactyly, Limitation of joint mobility, Short tibia, Limited knee flexion/extension, Finger... |
ORPHA:93323 |
| Kbg Syndrome |
|
Bilateral conductive hearing impairment, Underdeveloped nasal alae, Cervical ribs, Delayed skelet... |
ORPHA:2332 |
| Double Outlet Right Ventricle |
|
Hypoplastic left heart, Depressed nasal bridge, Tetralogy of Fallot, Heart murmur, Abnormality of... |
ORPHA:3426 |
| Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Low-set ears, Clinodactyly, Postnatal growth retardation, Ventricular septal defect, Sensorineura... |
OMIM:301040 |
| Conotruncal Heart Malformations |
|
Broad hallux, Complete atrioventricular canal defect, Truncus arteriosus, Postaxial polydactyly, ... |
OMIM:217095 |
| Fetal Akinesia Deformation Sequence 1 |
|
Low-set ears, Thin ribs, Decreased muscle mass, Micrognathia, Hip contracture, Talipes equinovaru... |
OMIM:208150 |
| Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A |
|
Low-set ears, Hearing impairment, Carpal synostosis, Cutaneous finger syndactyly, Hip contracture... |
OMIM:178110 |
| Laurin-Sandrow Syndrome |
|
Underdeveloped nasal alae, Patellar aplasia, Broad foot, Hand polydactyly, Triphalangeal thumb, A... |
OMIM:135750 |
| Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Low-set ears, Delayed epiphyseal ossification, Enlarged metaphyses, Elbow dislocation, Micrognath... |
OMIM:210710 |
| Long Qt Syndrome 16 |
|
Second degree atrioventricular block, T-wave alternans, Perimembranous ventricular septal defect,... |
OMIM:618782 |
| Multiple Pterygium Syndrome, Lethal Type |
|
Low-set ears, Depressed nasal ridge, Thin ribs, Joint dislocation, Short finger, Hypoplastic hear... |
OMIM:253290 |
| Restrictive Dermopathy |
|
Low-set ears, Thin ribs, Structural foot deformity, Increased anterioposterior diameter of thorax... |
ORPHA:1662 |
| Anemia, Nonspherocytic Hemolytic, Associated With Abnormality Of Red Cell Membrane |
|
Nonspherocytic hemolytic anemia |
OMIM:206300 |
| Hemolytic Anemia With Thermal Sensitivity Of Red Cells |
|
Congenital hemolytic anemia |
OMIM:235370 |
| Hemoglobin--Variants For Which The Chain Carrying The Mutation Is Unknown Or Uncertain |
|
Compensated hemolytic anemia |
OMIM:142309 |
| Brachydactyly, Type B1 |
|
Joint contracture of the hand, Broad thumb, Hypoplastic sacrum, Delayed cranial suture closure, A... |
OMIM:113000 |
| Adams-Oliver Syndrome 4 |
|
Aplasia of the distal phalanges of the toes, Short toe, Umbilical hernia, Aplasia of the middle p... |
OMIM:615297 |
| Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties |
|
Wide nasal bridge, Multiple muscular ventricular septal defects, Micrognathia, Polyhydramnios, De... |
OMIM:620070 |
| Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Low-set ears, Postaxial foot polydactyly, Hearing impairment, Overlapping fingers, Ventricular se... |
OMIM:301056 |
| 6-Phosphogluconolactonase Deficiency |
|
Hemolytic anemia |
OMIM:172150 |
| Lateral Meningocele Syndrome |
|
Low-set ears, Decreased muscle mass, Micrognathia, Ventricular septal defect, Bicuspid aortic val... |
OMIM:130720 |
| Kniest Dysplasia |
|
Delayed epiphyseal ossification, Enlarged metaphyses, Hypoplasia of the odontoid process, Hearing... |
ORPHA:485 |
| Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Hypertrophic cardiomyopathy, Intrauterine growth retardation, Oligohydramnios, Cardiomegaly, Peri... |
OMIM:620135 |
| Fallot Complex With Severe Mental And Growth Retardation |
|
Tetralogy of Fallot, Double outlet right ventricle, Pulmonic stenosis, Ventricular septal defect |
OMIM:601127 |
| Distal Deletion 10Q |
|
Low-set ears, Abnormality of the outer ear, Clinodactyly, Postnatal growth retardation, Micrognat... |
ORPHA:96148 |
| Congenital Gerbode Defect |
|
Holosystolic murmur, Ventricular septal defect, Elevated jugular venous pressure, Right atrial en... |
ORPHA:99095 |
| Cardiac, Facial, And Digital Anomalies With Developmental Delay |
|
Aortic valve stenosis, Low-set ears, Hearing impairment, Clinodactyly, Long hallux, Overlapping t... |
OMIM:618164 |
| Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome |
|
Hearing impairment, Abnormal heart morphology, Muscular ventricular septal defect, Overlapping to... |
ORPHA:363444 |
| 8Q24.3 Microdeletion Syndrome |
|
Infancy onset short-trunk short stature, Branchial cyst, Ventricular septal defect, Talipes, Shor... |
ORPHA:508488 |
| Eng-Strom Syndrome |
|
Camptodactyly of finger, Intrauterine growth retardation, Ventricular septal defect, Brachydactyl... |
ORPHA:1937 |
| Microphthalmia, Syndromic 9 |
|
Severe short stature, Hypoplastic left atrium, Right aortic arch with mirror image branching, Low... |
OMIM:601186 |
| Adenosine Triphosphate, Elevated, Of Erythrocytes |
|
Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia |
OMIM:102900 |
| Houge-Janssens Syndrome 3 |
|
Broad nasal tip, Megalocornea, Muscular ventricular septal defect, Umbilical hernia, Atrial septa... |
OMIM:618354 |
| Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Hypoplastic scapulae, Abnormality of the costochondral junction, Short tibia, Thumb contracture, ... |
ORPHA:96334 |
| Genitopalatocardiac Syndrome |
|
Low-set ears, Micrognathia, Right aortic arch, Ventricular septal defect, Transposition of the gr... |
OMIM:231060 |
| Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
|
Low-set ears, Broad thumb, Overlapping toe, Micrognathia, Sensorineural hearing impairment, Talip... |
OMIM:612474 |
| Adams-Oliver Syndrome 6 |
|
Tricuspid regurgitation, Foot oligodactyly, Portal hypertension, Ventricular septal defect, Trunc... |
OMIM:616589 |
| Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Low-set ears, Wide nasal bridge, Rhizomelia, Platyspondyly, Cataract, Narrow chest, Abnormal clav... |
ORPHA:93267 |
| Fallot Complex-Intellectual Disability-Growth Delay Syndrome |
|
Wide nasal bridge, Clubbing of toes, Macrotia, Tetralogy of Fallot, Recurrent otitis media, Micro... |
ORPHA:3304 |
| Frank-Ter Haar Syndrome |
|
Low-set ears, Megalocornea, Delayed cranial suture closure, Micrognathia, Mitral valve prolapse, ... |
OMIM:249420 |
| Atelosteogenesis, Type I |
|
Low-set ears, Elbow dislocation, Radial bowing, Fibular aplasia, Bell-shaped thorax, Micrognathia... |
OMIM:108720 |
| Cleft-Limb-Heart Malformation Syndrome |
|
Syndactyly, Truncus arteriosus |
OMIM:215850 |
| Pmp22-Rai1 Contiguous Gene Duplication Syndrome |
|
Ventricular septal defect, Bicuspid aortic valve, Overriding aorta, Talipes equinovarus, Pes plan... |
ORPHA:477817 |
| Silver-Russell Syndrome Due To A Point Mutation |
|
Low-set ears, Short 5th finger, Ectrodactyly, Small placenta, Postnatal growth retardation, Intra... |
ORPHA:397590 |
| Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation |
|
Thoracic hypoplasia, Umbilical hernia, Abnormal heart morphology, Postnatal growth retardation, L... |
ORPHA:254534 |
| Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome |
|
Splenic infarction, Persistence of hemoglobin F, Increased red cell sickling tendency, Reticulocy... |
ORPHA:251380 |
| Koolen-De Vries Syndrome |
|
Aortic root aneurysm, Pear-shaped nose, Ventricular septal defect, Bicuspid aortic valve, Atrial ... |
OMIM:610443 |
| Spondylocostal Dysostosis 1, Autosomal Recessive |
|
Severe short stature, Block vertebrae, Abnormal odontoid process morphology, Kyphoscoliosis, Vert... |
OMIM:277300 |
| Spondylometaphyseal Dysplasia, 'Corner Fracture' Type |
|
Abnormal vertebral morphology, Limitation of joint mobility, Clinodactyly, Hypoplastic iliac wing... |
ORPHA:93315 |
| Desbuquois Syndrome |
|
Small hand, Elbow dislocation, Bell-shaped thorax, Ventricular septal defect, Radioulnar synostos... |
ORPHA:1425 |
| Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age |
|
Clinodactyly of the 2nd finger, Genu valgum, Ventricular septal defect, Prominent nasal tip, Pes ... |
OMIM:618870 |
| Metatropic Dysplasia |
|
Severe short stature, Depressed nasal bridge, Cataract, Narrow chest, Hypoplastic cervical verteb... |
ORPHA:2635 |
| Diaphanospondylodysostosis |
|
Enlarged thorax, Myelomeningocele, Absent or minimally ossified vertebral bodies, Missing ribs, S... |
ORPHA:66637 |
| Birk-Aharoni Syndrome |
|
Absent patellar reflexes, Hearing impairment, Long nasal bridge, Muscular ventricular septal defe... |
OMIM:620071 |
| Rubinstein-Taybi Syndrome 1 |
|
Low-set ears, Broad thumb, Hearing impairment, Delayed cranial suture closure, Postnatal growth r... |
OMIM:180849 |
| Alg12-Cdg |
|
Biventricular hypertrophy, Overlapping fingers, Micrognathia, Sensorineural hearing impairment, T... |
ORPHA:79324 |
| Otopalatodigital Syndrome Type 1 |
|
Wide nasal bridge, Depressed nasal bridge, Short distal phalanx of finger, Limitation of joint mo... |
ORPHA:90650 |
| Acrocapitofemoral Dysplasia |
|
Radial bowing, Short tibia, Hypoplastic iliac wing, Dysplasia of the femoral head, Cone-shaped ep... |
OMIM:607778 |
| Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
|
Short distal phalanx of finger, Abnormal helix morphology, Short thumb, Preaxial hand polydactyly... |
ORPHA:1120 |
| Ogden Syndrome |
|
Low-set ears, Flared nostrils, Delayed cranial suture closure, Recurrent otitis media, Postnatal ... |
OMIM:300855 |
| Carpenter Syndrome 1 |
|
Low-set ears, Lambdoidal craniosynostosis, Joint contracture of the hand, Shallow acetabular foss... |
OMIM:201000 |
| Split-Hand/Foot Malformation With Long Bone Deficiency 1 |
|
Cupped ear, Patellar aplasia, Short hallux, Absent tibia, Split hand, Aplasia/Hypoplasia of the u... |
OMIM:119100 |
| Klippel-Feil Syndrome 2, Autosomal Recessive |
|
Conductive hearing impairment, Sensorineural hearing impairment, Ventricular septal defect, Cervi... |
OMIM:214300 |
| Cardiomyopathy, Familial Hypertrophic, 4 |
|
Ventricular hypertrophy, Myofiber disarray, Myopathy, Left bundle branch block, Ventricular fibri... |
OMIM:115197 |
| Aorta Coarctation |
|
Hypoplastic left heart, Congestive heart failure, Tetralogy of Fallot, Coronary artery atheroscle... |
ORPHA:1457 |
| Otopalatodigital Syndrome Type 2 |
|
Low-set ears, Synostosis of carpal bones, Hearing impairment, Elbow dislocation, Carpal synostosi... |
ORPHA:90652 |
| Spondylometaphyseal Dysplasia, Type A4 |
|
Sclerotic humeral metaphysis, Broad ischia, Irregular capital femoral epiphysis, Flat acetabular ... |
OMIM:609052 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Broad thumb, Finger syndactyly, Fibular aplasia, Micrognathia, Sensorineural hearing impairment, ... |
ORPHA:3320 |
| Atrioventricular Septal Defect 5 |
|
Hypoplastic left heart, Atrioventricular canal defect, Muscular ventricular septal defect |
OMIM:614474 |
| Cooper-Jabs Syndrome |
|
Conductive hearing impairment, Atresia of the external auditory canal, Camptodactyly of finger, L... |
ORPHA:1488 |
| 22Q11.2 Deletion Syndrome |
|
Low-set ears, Hearing impairment, Micrognathia, Ventricular septal defect, Arachnodactyly, Talipe... |
ORPHA:567 |
| Stuve-Wiedemann Syndrome 1 |
|
Low-set ears, Wide nasal base, Thin ribs, Short tibia, Micrognathia, Metaphyseal rarefaction, Tal... |
OMIM:601559 |
| Omodysplasia 1 |
|
Short tibia, Limited knee flexion/extension, Limited elbow flexion, Limited hip movement, Microgn... |
OMIM:258315 |
| Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion |
|
Depressed nasal bridge, Thoracic hypoplasia, Umbilical hernia, Postnatal growth retardation, Intr... |
ORPHA:254528 |
| Ehlers-Danlos Syndrome, Classic-Like, 2 |
|
Aortic root aneurysm, Micrognathia, Mitral valve prolapse, Short neck, Pes planus, Hip dislocatio... |
OMIM:618000 |
| Aortic Arch Interruption |
|
Ventricular septal defect, Bicuspid aortic valve, Single ventricle, Patent ductus arteriosus, Ped... |
ORPHA:2299 |
| Autosomal Recessive Spondylocostal Dysostosis |
|
Finger syndactyly, Congenital diaphragmatic hernia, Short neck, Low-set, posteriorly rotated ears... |
ORPHA:2311 |
| Chondrodysplasia Punctata, Tibia-Metacarpal Type |
|
Depressed nasal ridge, Short 3rd metacarpal, Micromelia, Short tibia, Epiphyseal stippling, Short... |
OMIM:118651 |
| Brachytelephalangic Chondrodysplasia Punctata |
|
Hypoplastic cervical vertebrae, Abnormality of the costochondral junction, Postnatal growth retar... |
ORPHA:79345 |
| Spondylocostal Dysostosis 5 |
|
Severe short stature, Pectus carinatum, Butterfly vertebrae, Low back pain, Missing ribs, Short n... |
OMIM:122600 |
| Bent Bone Dysplasia Syndrome 2 |
|
Thin ribs, Short tibia, Hypoplastic iliac wing, Talipes equinovarus, Short neck, Atrial septal de... |
OMIM:620076 |
| Charge Syndrome |
|
Aplasia/Hypoplasia of the earlobes, Hearing impairment, Chorioretinal coloboma, Abnormal tibia mo... |
ORPHA:138 |
| Truncus Arteriosus |
|
Abnormal coronary artery morphology, Ventricular septal defect, Single coronary artery origin, At... |
ORPHA:3384 |
| Isolated Right Ventricular Hypoplasia |
|
Bidirectional shunt, Abnormal atrioventricular conduction, Right ventricular failure, Right-to-le... |
ORPHA:439 |
| Congenital Heart Defects, Multiple Types, 5 |
|
Aortic valve stenosis, Dilated cardiomyopathy, Tetralogy of Fallot, Ventricular septal defect, Bi... |
OMIM:617912 |
| Cardiomyopathy, Dilated, 2H |
|
Muscular ventricular septal defect, Reduced left ventricular ejection fraction, Secundum atrial s... |
OMIM:620203 |
| Cardiac Septal Defects With Coarctation Of The Aorta |
|
Coarctation of aorta, Secundum atrial septal defect, Perimembranous ventricular septal defect |
OMIM:212090 |
| 16P13.11 Microduplication Syndrome |
|
Tetralogy of Fallot, Ventricular septal defect, Joint hypermobility, Arachnodactyly, Coarctation ... |
ORPHA:261243 |
| Diastrophic Dysplasia |
|
Hypoplastic cervical vertebrae, Hearing impairment, Elbow dislocation, Micrognathia, Bowing of th... |
ORPHA:628 |
| Noonan Syndrome |
|
Postnatal growth retardation, Micrognathia, Sensorineural hearing impairment, Radioulnar synostos... |
ORPHA:648 |
| Cardiomyopathy, Dilated, 1S |
|
Pulmonary artery hypoplasia, Dilated cardiomyopathy, Congestive heart failure, Left ventricular n... |
OMIM:613426 |
| Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction |
|
Low-set ears, Depressed nasal bridge, Broad nasal tip, Cupped ear, Kyphosis, Ectopia pupillae, De... |
OMIM:618223 |
| Heart Defects, Congenital, And Other Congenital Anomalies |
|
Interrupted aortic arch, Total absence of the pericardium, Hypoplastic tricuspid valve, Umbilical... |
OMIM:600001 |
| Partial Atrioventricular Septal Defect |
|
Aortic valve stenosis, Mitral regurgitation, Bicuspid aortic valve, Patent ductus arteriosus, Hyp... |
ORPHA:1330 |
| Structural Heart Defects And Renal Anomalies Syndrome |
|
Interrupted aortic arch, Low-set ears, Tetralogy of Fallot, Overlapping toe, Right aortic arch, V... |
OMIM:617478 |
| Halperin-Birk Syndrome |
|
Hearing impairment, Umbilical hernia, Intrauterine growth retardation, Micrognathia, Congenital d... |
OMIM:618651 |
| Myhre Syndrome |
|
Aortic valve stenosis, Low-set ears, Limitation of joint mobility, Hearing impairment, Clinodacty... |
OMIM:139210 |
| Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome |
|
Short distal phalanx of finger, Broad nasal tip, Short distal phalanx of the thumb, Upper limb mu... |
ORPHA:370010 |
| Ring Chromosome 21 Syndrome |
|
Small hand, Clinodactyly, Thoracic hemivertebrae, Abnormal heart morphology, Abnormal thorax morp... |
ORPHA:1445 |
| Congenitally Corrected Transposition Of The Great Arteries |
|
Atrial situs ambiguous, Ventricular septal defect, Discordant atrioventricular connection, Arrhyt... |
ORPHA:216694 |
| Apert Syndrome |
|
Depressed nasal bridge, Choanal atresia, Toe syndactyly, Conductive hearing impairment, Finger sy... |
ORPHA:87 |
| Congenital Heart Defects, Multiple Types, 6 |
|
Total anomalous pulmonary venous return, Secundum atrial septal defect, Hypoplastic pulmonary vei... |
OMIM:613854 |
| Lethal Faciocardiomelic Dysplasia |
|
Hypoplastic left heart, Short 5th finger, Microretrognathia, Sandal gap, Short tibia, Short thumb... |
ORPHA:1972 |
| Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 2 |
|
Low-set ears, Muscular ventricular septal defect, Adducted thumb, Brachydactyly, Short stature |
OMIM:620062 |
| Duane-Radial Ray Syndrome |
|
Ventricular septal defect, Sensorineural hearing impairment, Aplasia of metacarpal bones, Pes pla... |
OMIM:607323 |
| Cardiomyopathy, Dilated, 2D |
|
Dilated cardiomyopathy, Cardiogenic shock, Muscular ventricular septal defect, Tricuspid regurgit... |
OMIM:619371 |
| Leri-Weill Dyschondrosteosis |
|
Increased carrying angle, Abnormal femoral neck morphology, Radial bowing, Short tibia, Abnormal ... |
OMIM:127300 |
| Autosomal Dominant Spondylocostal Dysostosis |
|
Severe short stature, Wide nasal bridge, Abnormal rib morphology, Intrauterine growth retardation... |
ORPHA:1797 |
| Basal Cell Nevus Syndrome 1 |
|
Short distal phalanx of the thumb, Cardiac rhabdomyoma, Sprengel anomaly, Iris coloboma, Cataract... |
OMIM:109400 |
| Frontometaphyseal Dysplasia |
|
Hypoplasia of the musculature, Joint contracture of the hand, Short distal phalanx of the thumb, ... |
ORPHA:1826 |
| Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism |
|
Low-set ears, Nemaline bodies, Cardiomyopathy, Underdeveloped nasal alae, Bulbous nose, Micrognat... |
OMIM:616549 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Short forearm, Broad thumb, Finger syndactyly, Carpal synostosis, Fibular aplasia, Micrognathia, ... |
OMIM:274000 |
| Microcephaly With Cervical Spine Fusion Anomalies |
|
Short stature, Spinal instability, Vertebral fusion |
OMIM:251250 |
| Sifrim-Hitz-Weiss Syndrome |
|
Low-set ears, Cupped ear, Hearing impairment, Tetralogy of Fallot, Astigmatism, Ventricular septa... |
OMIM:617159 |
| Acromesomelic Dysplasia 2A |
|
Acromesomelia, Disproportionate short-limb short stature, Short tibia, Aplasia/Hypoplasia involvi... |
OMIM:200700 |
| Congenital Disorder Of Glycosylation, Type Iie |
|
Low-set ears, Secundum atrial septal defect, Skeletal muscle atrophy, Congestive heart failure, I... |
OMIM:608779 |
| Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Acute leukemia, HbH hemoglobin, Microcytic anemia, Splenomegaly, Neutropenia, Thrombocytopenia |
ORPHA:231401 |
| Heterotaxy, Visceral, 1, X-Linked |
|
Low-set ears, Ventricular septal defect, Atrial septal defect, Dextrocardia, Single ventricle, Le... |
OMIM:306955 |
| Achondrogenesis Type 1B |
|
Severe short stature, Narrow chest, Disproportionate short stature, Abnormal enchondral ossificat... |
ORPHA:93298 |
| Congenital Unilateral Hypoplasia Of Depressor Anguli Oris |
|
Tetralogy of Fallot, Joint stiffness, Micrognathia, Abnormal hip bone morphology, Congenital diap... |
ORPHA:1166 |
| Acro-Renal-Ocular Syndrome |
|
Toe syndactyly, Short distal phalanx of the thumb, Finger syndactyly, Chorioretinal coloboma, Rad... |
ORPHA:959 |
| Absence Of The Pulmonary Artery |
|
Abnormal hemidiaphragm morphology, Abnormal coronary artery morphology, Atrial septal defect, Tac... |
ORPHA:980 |
| Femoral-Facial Syndrome |
|
Low-set ears, Aplasia/Hypoplasia of the tibia, Abnormal pelvic girdle bone morphology, Short femu... |
ORPHA:1988 |
| Spondylocarpotarsal Synostosis Syndrome |
|
Epiphyseal dysplasia, Hypoplasia of the odontoid process, Carpal synostosis, C2-C3 subluxation, S... |
OMIM:272460 |
| Fetal Trimethadione Syndrome |
|
Low-set ears, Depressed nasal bridge, Abnormal helix morphology, Tetralogy of Fallot, Intrauterin... |
ORPHA:1913 |
| Fibrochondrogenesis 1 |
|
Low-set ears, Thin ribs, Joint contracture of the hand, Hypoplastic scapulae, Small hand, Megaloc... |
OMIM:228520 |
| Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Low-set ears, Large fleshy ears, Decreased fibular diameter, Micrognathia, Ventricular septal def... |
OMIM:616897 |
| Mullegama-Klein-Martinez Syndrome |
|
Hypoplastic left heart, Low-set ears, Wide nasal bridge, Depressed nasal bridge, Atresia of the e... |
OMIM:301022 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5 |
|
Shoulder girdle muscle atrophy, Muscular dystrophy, Skeletal muscle atrophy, Kyphosis, Shoulder g... |
OMIM:606612 |
| Cardioneuromyopathy With Hyaline Masses And Nemaline Rods |
|
Nemaline bodies, Cardiomyopathy, Fusion of midcervical facet joints, Limb muscle weakness, Wideni... |
OMIM:606842 |
| Frontonasal Dysplasia 1 |
|
Low-set ears, Cranium bifidum occultum, Joint contracture of the hand, Broad nasal tip, Conductiv... |
OMIM:136760 |
| Wrinkly Skin Syndrome |
|
Low-set ears, Hypoplasia of the musculature, Delayed cranial suture closure, Talipes equinovarus,... |
OMIM:278250 |
| Alagille Syndrome |
|
Keratoconus, Micrognathia, Ventricular septal defect, Atrial septal defect, Long nose, Delayed sk... |
ORPHA:52 |
| Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1 |
|
Low-set ears, Recurrent otitis media, Postnatal growth retardation, Overlapping toe, Micrognathia... |
OMIM:213980 |
| Osebold-Remondini Syndrome |
|
Dysplastic distal radial epiphyses, Abnormality of the vertebral column, Short toe, Carpal synost... |
OMIM:112910 |
| Mucopolysaccharidosis, Type Iva |
|
Constricted iliac wing, Hypoplasia of the odontoid process, Hearing impairment, Genu valgum, Shor... |
OMIM:253000 |
| Axial Spondylometaphyseal Dysplasia |
|
Abnormal ilium morphology, Hypoplastic iliac wing, Disproportionate short-trunk short stature, Ab... |
ORPHA:168549 |
| Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome |
|
Hypoplastic left heart, Cataract, Disproportionate short-limb short stature, Micromelia, Low-set,... |
ORPHA:2772 |
| Cayler Cardiofacial Syndrome |
|
Tetralogy of Fallot, Patent ductus arteriosus, Ventricular septal defect |
OMIM:125520 |
| Diabetic Embryopathy |
|
Spinal dysraphism, Hearing impairment, Tetralogy of Fallot, Low-set, posteriorly rotated ears, Mi... |
ORPHA:1926 |
| Robinow Syndrome, Autosomal Recessive 1 |
|
Low-set ears, Bifid distal phalanx of toe, Small hand, Broad thumb, Hearing impairment, Clinodact... |
OMIM:268310 |
| Koolen-De Vries Syndrome |
|
Wide nasal bridge, Cataract, Hip dislocation, Underdeveloped nasal alae, Thick nasal alae, Bulbou... |
ORPHA:96169 |
| Frontometaphyseal Dysplasia 1 |
|
Hypoplasia of the musculature, Broad phalanges of the hand, Hearing impairment, Partial fusion of... |
OMIM:305620 |
| Kallmann Syndrome-Heart Disease Syndrome |
|
Aortic regurgitation, Partial anosmia, Pulmonary artery hypoplasia, Dilated cardiomyopathy, Osteo... |
ORPHA:2326 |
| Léri-Weill Dyschondrosteosis |
|
Elbow dislocation, Radial bowing, Short tibia, Abnormal tibia morphology, Genu valgum, Patellar a... |
ORPHA:240 |
| 8P23.1 Microdeletion Syndrome |
|
Low-set ears, Broad thumb, Micrognathia, Congenital diaphragmatic hernia, Short neck, Pes planus,... |
ORPHA:251071 |
| Yuan-Harel-Lupski Syndrome |
|
Aortic root aneurysm, Hearing impairment, Sandal gap, Talipes valgus, Talipes equinovalgus, Ventr... |
OMIM:616652 |
| Tibia, Hypoplasia Or Aplasia Of, With Polydactyly |
|
Short tibia, Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication |
OMIM:188740 |
| Chondrodysplasia, Blomstrand Type |
|
Abnormal vertebral morphology, Depressed nasal bridge, Narrow chest, Fetal ascites, Micromelia, F... |
OMIM:215045 |
| Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Aortic valve stenosis, Hypertrophic cardiomyopathy, Oligohydramnios, Situs inversus totalis, Femo... |
OMIM:615415 |
| Congenital Disorder Of Glycosylation, Type Ig |
|
Rhizomelia, Recurrent upper respiratory tract infections, Short tibia, Sandal gap, Butterfly vert... |
OMIM:607143 |
| Robinow Syndrome |
|
Low-set ears, Flared nostrils, Micrognathia, Ventricular septal defect, Atrial septal defect, Mes... |
ORPHA:97360 |
| Microphthalmia, Syndromic 2 |
|
Aortic valve stenosis, Hand clenching, Mitral valve prolapse, Ventricular septal defect, Contract... |
OMIM:300166 |
| Kagami-Ogata Syndrome |
|
Depressed nasal bridge, Limitation of joint mobility, Thoracic hypoplasia, Premature birth, Postn... |
ORPHA:254519 |
| Metaphyseal Chondrodysplasia, Schmid Type |
|
Abnormal vertebral morphology, Radial metaphyseal irregularity, Anterior rib cupping, Genu varum,... |
ORPHA:174 |
| Down Syndrome |
|
Shallow acetabular fossae, Clinodactyly, Hypoplastic iliac wing, Ventricular septal defect, Atria... |
OMIM:190685 |
| Microphthalmia, Syndromic 3 |
|
Cataract, Postnatal growth retardation, Butterfly vertebrae, Sensorineural hearing impairment, Ve... |
OMIM:206900 |
| Mitochondrial Complex I Deficiency, Nuclear Type 36 |
|
Cardiomegaly, Perimembranous ventricular septal defect, Limb hypertonia |
OMIM:619170 |
| Mucopolysaccharidosis, Type Ivb |
|
Aortic valve stenosis, Constricted iliac wing, Hypoplasia of the odontoid process, Hearing impair... |
OMIM:253010 |
| Chromosome 17P13.3, Telomeric, Duplication Syndrome |
|
3-4 finger syndactyly, Short toe, Short tibia, Absent hallux, Oligodactyly, Ectrodactyly, Contrac... |
OMIM:612576 |
| Keratoconus Posticus Circumscriptus |
|
Keratoconus, Limited elbow extension and supination, Short neck, Brachydactyly, Central posterior... |
OMIM:244600 |
| Cantú Syndrome |
|
Finger syndactyly, Short neck, Short hallux, Patent ductus arteriosus, Ovoid vertebral bodies, De... |
ORPHA:1517 |
| Ciliary Dyskinesia, Primary, 53 |
|
Ductus venosus agenesis, Situs inversus totalis, Right aortic arch, Patent foramen ovale, Cardiom... |
OMIM:620642 |
| Restrictive Dermopathy 1 |
|
Low-set ears, Increased anterioposterior diameter of thorax, Micrognathia, Neonatal death, Atrial... |
OMIM:275210 |
| Slc35A2-Cdg |
|
Aplasia/hypoplasia involving bones of the extremities, Osteopenia, Short tibia, Camptodactyly of ... |
ORPHA:356961 |
| Shashi-Pena Syndrome |
|
Low-set ears, Broad nasal tip, Cupped ear, Dilation of Virchow-Robin spaces, Kyphosis, Intrauteri... |
OMIM:617190 |
| Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Limitation of joint mobility, Synostosis of carpal bones, Abnormal joint morphology, Genu valgum,... |
ORPHA:93351 |
| X-Linked Intellectual Disability, Nascimento Type |
|
Hearing impairment, Overlapping toe, Ventricular septal defect, Bilateral talipes equinovarus, Sh... |
ORPHA:163956 |
| Contractural Arachnodactyly, Congenital |
|
Crumpled ear, Aortic root aneurysm, Micrognathia, Mitral regurgitation, Mitral valve prolapse, Ve... |
OMIM:121050 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5 |
|
Muscular dystrophy, Dilated cardiomyopathy, Shoulder girdle muscle weakness, Calf muscle hypertro... |
OMIM:607155 |
| Kniest Dysplasia |
|
Delayed epiphyseal ossification, Limitation of joint mobility, Recurrent otitis media, Hip contra... |
OMIM:156550 |
| Kyphomelic Dysplasia |
|
Narrow chest, Disproportionate short stature, Limitation of joint mobility, Abnormal form of the ... |
ORPHA:1801 |
| Mucopolysaccharidosis Type 4 |
|
Hearing impairment, Genu valgum, Bowing of the long bones, Short neck, Pectus carinatum, Joint di... |
ORPHA:582 |
| Maternal Phenylketonuria |
|
Hypoplastic left heart, Hypoplastic helices, Wide nasal bridge, Clinodactyly, Abnormal heart morp... |
ORPHA:2209 |
| Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly |
|
Wide nasal bridge, Short 3rd metacarpal, Short 4th toe, Short thumb, 2-4 toe cutaneous syndactyly... |
OMIM:618569 |
| Ciliary Dyskinesia, Primary, 39 |
|
Recurrent otitis media, Double outlet right ventricle, Dextrocardia |
OMIM:618254 |
| Anemia, Congenital Dyserythropoietic, Type Iiib, Autosomal Recessive |
|
Macrocytic dyserythropoietic anemia, Macrocytic anemia |
OMIM:619789 |
| Achondrogenesis Type 1A |
|
Severe short stature, Narrow chest, Abnormal enchondral ossification, Thickened nuchal skin fold,... |
ORPHA:93299 |
| Cartilage-Hair Hypoplasia |
|
Small hand, Bowing of the long bones, Short neck, Abnormal bone ossification, Diaphyseal undertub... |
ORPHA:175 |
| Multiple Synostoses Syndrome 2 |
|
Carpal synostosis, Humeroradial synostosis, Talipes equinovarus, Finger symphalangism, Brachydact... |
OMIM:610017 |
| Lethal Congenital Contracture Syndrome 10 |
|
Low-set ears, Increased variability in muscle fiber diameter, Overlapping fingers, Micrognathia, ... |
OMIM:617022 |
| Microcephaly-Micromelia Syndrome |
|
Low-set ears, Narrow chest, Absent thumb, Short tibia, Micromelia, Oligodactyly, Intrauterine gro... |
OMIM:251230 |
| Weill-Marchesani Syndrome 2 |
|
Aortic valve stenosis, Broad phalanges of the hand, Mitral regurgitation, Ventricular septal defe... |
OMIM:608328 |
| Brachydactyly, Type A4 |
|
Aplasia of the middle phalanges of the toes, Talipes calcaneovalgus, Congenital talipes calcaneov... |
OMIM:112800 |
| Schneckenbecken Dysplasia |
|
Hypoplastic scapulae, Narrow vertebral interpedicular distance, Short neck, Anterior rib cupping,... |
OMIM:269250 |
| Ventricular Septal Defect 2 |
|
Perimembranous ventricular septal defect |
OMIM:614431 |
| Microcephaly-Cervical Spine Fusion Anomalies Syndrome |
|
Low-set ears, Abnormal clavicle morphology, Abnormal hip bone morphology, Micrognathia, Short nec... |
ORPHA:2522 |
| Multiple Pterygium Syndrome, Escobar Variant |
|
Low-set ears, Intercrural pterygium, Talipes calcaneovalgus, Exostosis of the external auditory c... |
OMIM:265000 |
| Syndactyly Type 4 |
|
Toe syndactyly, Limitation of joint mobility, Short tibia, Camptodactyly of finger, Hand polydact... |
ORPHA:93405 |
| Fibular Dimelia-Diplopodia Syndrome |
|
Absent tibia, Sacrococcygeal teratoma |
ORPHA:1757 |
| Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy |
|
Low-set ears, Unbalanced atrioventricular canal defect, Toe syndactyly, Thoracic aortic aneurysm,... |
OMIM:619657 |
| Distal Deletion 15Q |
|
Low-set ears, Small hand, Hearing impairment, Postnatal growth retardation, Genu valgum, Microgna... |
ORPHA:1596 |
| Ververi-Brady Syndrome |
|
Low-set ears, Metaphyseal irregularity, Broad nasal tip, Cupped ear, Delayed skeletal maturation,... |
OMIM:617982 |
| Gillespie Syndrome |
|
Hypoplasia of the iris, Aniridia, Truncus arteriosus |
OMIM:206700 |
| Langer Mesomelic Dysplasia |
|
Increased carrying angle, Radial bowing, Short tibia, Rudimentary fibula, Rhizomelic arm shorteni... |
OMIM:249700 |
| Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Wide nasal bridge, Prominent nose, Decreased fetal movement, Double outlet right ventricle, Atria... |
OMIM:614886 |
| Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies |
|
Wide nasal bridge, Depressed nasal bridge, Broad nasal tip, Recurrent otitis media, Dextrotranspo... |
OMIM:619995 |
| Alkaptonuria |
|
Aortic valve calcification, Limited hip movement, Brown pigmentation of the conjunctiva, Thickene... |
OMIM:203500 |
| Feingold Syndrome Type 1 |
|
Interrupted aortic arch, Toe syndactyly, Conductive hearing impairment, Short thumb, Abnormal hea... |
ORPHA:391641 |
| Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Low-set ears, Recurrent otitis media, Internally rotated shoulders, Micrognathia, Hip contracture... |
OMIM:619503 |
| Osteogenesis Imperfecta |
|
Thin ribs, Aortic root aneurysm, Hearing impairment, Abnormal tibia morphology, Enlarged vertebra... |
ORPHA:666 |
| Trisomy 13 |
|
Low-set ears, Iris coloboma, Abnormal helix morphology, Cataract, Kyphosis, Narrow chest, Abnorma... |
ORPHA:3378 |
| Developmental And Speech Delay Due To Sox5 Deficiency |
|
Pectus carinatum, Lumbar hyperlordosis, Butterfly vertebrae, Mitral regurgitation, 2-3 toe syndac... |
ORPHA:313892 |
| Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome |
|
Aplasia/Hypoplasia of the earlobes, Abnormal form of the vertebral bodies, Elbow dislocation, Thi... |
ORPHA:2916 |
| Gorlin Syndrome |
|
Abnormal vertebral morphology, Wide nasal bridge, Iris coloboma, Cataract, Plantar pits, Vertebra... |
ORPHA:377 |
| Cardiac Valvular Dysplasia 1 |
|
Left aortic arch with cervical origin of the right subclavian artery, Valvular pulmonary stenosis... |
OMIM:212093 |
| Ovalocytosis, Hereditary Hemolytic, With Defective Erythropoiesis |
|
Hemolytic anemia, Anemia of inadequate production, Elliptocytosis |
OMIM:166910 |
| 3M Syndrome |
|
Thin ribs, Short neck, Hypoplastic ischia, Abnormality of the elbow, Delayed skeletal maturation,... |
ORPHA:2616 |
| Acromesomelic Dysplasia, Grebe Type |
|
Synostosis of carpal bones, Disproportionate short-limb short stature, Short toe, Micromelia, Sho... |
ORPHA:2098 |
| Chromosome 6Pter-P24 Deletion Syndrome |
|
Low-set ears, Axenfeld anomaly, Ventricular septal defect, Sensorineural hearing impairment, Tela... |
OMIM:612582 |
| Klippel-Feil Syndrome 1, Autosomal Dominant |
|
Conductive hearing impairment, Hearing impairment, Sensorineural hearing impairment, Congenital m... |
OMIM:118100 |
| Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness |
|
Hypoplastic iliac wing, Sensorineural hearing impairment, Beaking of vertebral bodies, Pes planus... |
OMIM:609616 |
| 3C Syndrome |
|
Aortic valve stenosis, Low-set ears, Finger syndactyly, Chorioretinal coloboma, Postnatal growth ... |
ORPHA:7 |
| Spherocytosis, Type 3 |
|
Hemolytic anemia, Spherocytosis |
OMIM:270970 |
| Poland Syndrome |
|
Hypoplasia of latissimus dorsi muscle, Absence of pectoralis minor muscle, Hypoplasia of deltoid ... |
OMIM:173800 |
| Laubry-Pezzi Syndrome |
|
Aortic regurgitation, Abnormal coronary artery morphology, Congestive heart failure, Elevated pul... |
ORPHA:99094 |
| Platyspondylic Lethal Skeletal Dysplasia, Torrance Type |
|
Low-set ears, Thin ribs, Radial bowing, Severe limb shortening, Short neck, Flat acetabular roof,... |
OMIM:151210 |
| Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy |
|
Low-set ears, Thin ribs, Hypoplasia of the odontoid process, Broad foot, Short neck, Anterior rib... |
OMIM:300232 |
| Deafness, Autosomal Recessive 109 |
|
Congenital sensorineural hearing impairment, Absent vestibular function, Abnormal semicircular ca... |
OMIM:618013 |
| Femur, Unilateral Bifid, With Monodactylous Ectrodactyly |
|
Bifid femur, Aplasia of the ulna, Absent tibia, Split hand, Hand monodactyly, Foot monodactyly |
OMIM:228250 |
| Endosteal Hyperostosis, Worth Type |
|
Sclerotic vertebral body, Abnormal form of the vertebral bodies, Sensorineural hearing impairment... |
ORPHA:2790 |
| Codas Syndrome |
|
Depressed nasal bridge, Crumpled ear, Cataract, Congenital hip dislocation, Abnormal form of the ... |
ORPHA:1458 |
| Congenital Heart Defects, Multiple Types, 4 |
|
Aortic valve stenosis, Hypoplastic left heart, Atrioventricular canal defect, Tetralogy of Fallot... |
OMIM:615779 |
| 22Q11.2 Duplication Syndrome |
|
Interrupted aortic arch, Hypoplastic left heart, Depressed nasal ridge, Hearing impairment, Tetra... |
ORPHA:1727 |
| Holoprosencephaly 13, X-Linked |
|
Hypoplastic left heart, Low-set ears, Hearing impairment, Thoracic hemivertebrae, Micrognathia, B... |
OMIM:301043 |
| Diamond-Blackfan Anemia 7 |
|
Choanal atresia, Osteopenia, Small hypothenar eminence, Secundum atrial septal defect, Hearing im... |
OMIM:612562 |
| Simpson-Golabi-Behmel Syndrome |
|
Abnormal helix morphology, Toe syndactyly, Broad thumb, Finger syndactyly, Congenital diaphragmat... |
ORPHA:373 |
| Klippel-Feil Syndrome 3, Autosomal Dominant |
|
Chorioretinal coloboma, Cervical C3/C4 vertebral fusion, Cervical C5/C6 vertebrae fusion, Thoraci... |
OMIM:613702 |
| Pseudoachondroplasia |
|
Delayed epiphyseal ossification, Atlantoaxial dislocation, Hypoplasia of the odontoid process, Ra... |
OMIM:177170 |
| Kagami-Ogata Syndrome |
|
Thin ribs, Depressed nasal bridge, Premature birth, Anteverted nares, Bell-shaped thorax, Diastas... |
OMIM:608149 |
| Primary Ciliary Dyskinesia |
|
Nasal polyposis, Conductive hearing impairment, Hearing impairment, Atrial situs ambiguous, Abnor... |
ORPHA:244 |
| White Forelock With Malformations |
|
Finger syndactyly, Delayed skeletal maturation, Low-set, posteriorly rotated ears, Clinodactyly o... |
ORPHA:2475 |
| Noonan Syndrome 12 |
|
Tetralogy of Fallot, 11 pairs of ribs, Supravalvular aortic stenosis, Ventricular septal defect, ... |
OMIM:618624 |
| Acromesomelic Dysplasia 2C |
|
Hip dislocation, Shortening of all middle phalanges of the fingers, Elbow dislocation, Radial bow... |
OMIM:201250 |
| Rhizomelic Chondrodysplasia Punctata, Type 2 |
|
Micrognathia, Knee contracture, Hip contracture, Irregular vertebral endplates, Cataract, Osteope... |
OMIM:222765 |
| Vertebral Fusion, Posterior Lumbosacral, With Blepharoptosis |
|
Posterior fusion of lumbosacral vertebrae |
OMIM:192800 |
| Tricuspid Atresia |
|
Hypoplasia of right ventricle, Patent foramen ovale, Ventricular septal defect, Persistent left s... |
ORPHA:1209 |
| Hadziselimovic Syndrome |
|
Low-set ears, Ventricular hypertrophy, Delayed skeletal maturation, Tetralogy of Fallot, Antevert... |
OMIM:612946 |
| Achondrogenesis, Type Ia |
|
Low-set ears, Unossified vertebral bodies, Hypoplastic nasal bridge, Hypoplastic scapulae, Abnorm... |
OMIM:200600 |
| Acromesomelic Dysplasia 4 |
|
Low-set ears, Radial bowing, Prominent deltoid tuberosities, Genu valgum, Beaking of vertebral bo... |
OMIM:619636 |
| Dilated Cardiomyopathy With Ataxia |
|
Generalized amyotrophy, Dilated cardiomyopathy, Muscular ventricular septal defect, Intrauterine ... |
ORPHA:66634 |
| Dyggve-Melchior-Clausen Disease |
|
Epiphyseal dysplasia, Hypoplasia of the odontoid process, Genu valgum, Limb muscle weakness, Shor... |
ORPHA:239 |
| Spondyloepimetaphyseal Dysplasia, Guo-Campeau Type |
|
Low-set ears, Clinodactyly of the 2nd finger, Micrognathia, Ventricular septal defect, Pes planus... |
OMIM:620663 |
| Mesomelic Dysplasia, Kantaputra Type |
|
Ulnar deviation of finger, Abnormality of the ankle, Synostosis of carpal bones, Abnormality of t... |
ORPHA:1836 |
| Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome |
|
Joint contracture of the hand, Clinodactyly, Chorioretinal coloboma, Broad 2nd toe, Ventricular s... |
OMIM:280000 |
| Intellectual Developmental Disorder, Autosomal Dominant 66 |
|
Low-set ears, Pectus carinatum, Toe clinodactyly, Secundum atrial septal defect, Aortic root aneu... |
OMIM:619910 |
| Microphthalmia With Limb Anomalies |
|
Synostosis of joints, Toe syndactyly, Synostosis of carpal bones, Elbow dislocation, Postaxial fo... |
ORPHA:1106 |
| Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Low-set ears, Wide nasal bridge, Thin ribs, Coronal craniosynostosis, Underdeveloped nasal alae, ... |
ORPHA:83617 |
| Mucopolysaccharidosis, Type Vi |
|
Epiphyseal dysplasia, Hypoplasia of the odontoid process, Hearing impairment, Hypoplastic iliac w... |
OMIM:253200 |
| Mosaic Trisomy 20 |
|
Narrow chest, Hearing impairment, Clinodactyly, Spinal canal stenosis, Intrauterine growth retard... |
ORPHA:1724 |
| Congenital Syphilis |
|
Cataract, Keratitis, Hearing impairment, Premature birth, Intrauterine growth retardation, Large ... |
ORPHA:499009 |
| Acro-Renal-Mandibular Syndrome |
|
Thin ribs, Hypoplastic scapulae, Finger syndactyly, Rudimentary fibula, Micrognathia, Congenital ... |
ORPHA:958 |
| Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
|
Low-set ears, Depressed nasal ridge, Rhizomelia, Platyspondyly, Thin ribs, Metaphyseal cupping of... |
OMIM:300863 |
| Microgastria-Limb Reduction Defect Syndrome |
|
Aplastic clavicle, Elbow dislocation, Short thumb, Ectrodactyly, Oligodactyly, Absent hand, Ameli... |
ORPHA:2538 |
| Christian Syndrome |
|
Wide nasal bridge, Thoracic hemivertebrae, Prominent metopic ridge, Short stature, Scoliosis, Sho... |
OMIM:309620 |
| Pyropoikilocytosis, Hereditary |
|
Hemolytic anemia, Microspherocytosis, Pyropoikilocytosis, Elliptocytosis |
OMIM:266140 |
| Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Low-set ears, Short tibia, Micrognathia, Neonatal death, Short neck, Abnormal pinna morphology, T... |
OMIM:617925 |
| Chromosome 8Q22.1 Duplication Syndrome |
|
Genu recurvatum, Microcornea, Broad thumb, Limitation of joint mobility, Interphalangeal joint co... |
OMIM:151200 |
| Mucopolysaccharidosis, Type Vii |
|
Hypoplasia of the odontoid process, Limitation of joint mobility, Hearing impairment, Recurrent o... |
OMIM:253220 |
| Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B |
|
Tarsal synostosis, Talipes equinovarus, Short neck, Fused thoracic vertebrae, Antecubital pterygi... |
OMIM:618469 |
| Wildervanck Syndrome |
|
Congenital sensorineural hearing impairment, Short neck, Lens subluxation, Meningocele, Facial pa... |
ORPHA:3456 |
| Saul-Wilson Syndrome |
|
Hypoplasia of the odontoid process, Hearing impairment, Postnatal growth retardation, Micrognathi... |
OMIM:618150 |
| Duane Retraction Syndrome |
|
Hearing impairment, Chorioretinal coloboma, Micrognathia, Sensorineural hearing impairment, Talip... |
ORPHA:233 |
| Fanconi Anemia, Complementation Group I |
|
Conductive hearing impairment, Absent thumb, Short 1st metacarpal, Short thumb, Intrauterine grow... |
OMIM:609053 |
| Wolf-Hirschhorn Syndrome |
|
Decreased muscle mass, Ectopia pupillae, Micrognathia, Ventricular septal defect, Sensorineural h... |
OMIM:194190 |
| Trichohepatoenteric Syndrome 1 |
|
Low-set ears, Depressed nasal ridge, Aortic regurgitation, Tetralogy of Fallot, Intrauterine grow... |
OMIM:222470 |
| Waardenburg Syndrome, Type 2E |
|
Iris hypopigmentation, Anosmia, Hypoplasia of the iris, Ocular albinism, Aplasia of the semicircu... |
OMIM:611584 |
| 3Q29 Microdeletion Syndrome |
|
Low-set ears, Cataract, Pectus carinatum, Prominent nasal bridge, Clinodactyly of the 5th finger,... |
ORPHA:65286 |
| Osteogenesis Imperfecta, Type Ii |
|
Platyspondyly, Thin ribs, Abnormal pelvic girdle bone morphology, Disproportionate short-limb sho... |
OMIM:166210 |
| Heterotaxy, Visceral, 5, Autosomal |
|
Total anomalous pulmonary venous return, Absence of the sacrum, Atrial reentry tachycardia, Atrio... |
OMIM:270100 |
| Congenitally Uncorrected Transposition Of The Great Arteries |
|
Abnormal coronary artery morphology, Biventricular hypertrophy, Abnormal mitral valve morphology,... |
ORPHA:860 |
| Stapes Ankylosis With Broad Thumbs And Toes |
|
Short distal phalanx of finger, Toe syndactyly, Conductive hearing impairment, Broad hallux, Unde... |
OMIM:184460 |
| Digeorge Syndrome |
|
Interrupted aortic arch, Low-set ears, Right aortic arch with mirror image branching, Umbilical h... |
OMIM:188400 |
| Prune Belly Syndrome |
|
Congenital hip dislocation, Tetralogy of Fallot, Oligohydramnios, Ventricular septal defect, Vert... |
ORPHA:2970 |
| Dyggve-Melchior-Clausen Disease |
|
Hypoplastic scapulae, Hypoplasia of the odontoid process, Limitation of joint mobility, Postnatal... |
OMIM:223800 |
| Mosaic Trisomy 14 |
|
Wide nasal bridge, Narrow chest, Lower limb asymmetry, Camptodactyly of finger, Low-set, posterio... |
ORPHA:1703 |
| Craniodiaphyseal Dysplasia |
|
Wide nasal bridge, Depressed nasal bridge, Conductive hearing impairment, Stenosis of the externa... |
ORPHA:1513 |
| Frontometaphyseal Dysplasia 2 |
|
Low-set ears, Broad thumb, Decreased muscle mass, Hip contracture, Sensorineural hearing impairme... |
OMIM:617137 |
| Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Short tibia, Bell-shaped thorax, Encephalocele, Flat acetabular roof, Patent ductus arteriosus, M... |
OMIM:616300 |
| Otospondylomegaepiphyseal Dysplasia |
|
Abnormal vertebral morphology, Epiphyseal dysplasia, Limitation of joint mobility, Abnormal joint... |
ORPHA:1427 |
| X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome |
|
Thoracic hemivertebrae, Brachydactyly, Short stature, Abnormal sacrum morphology, Scoliosis, Shor... |
ORPHA:1436 |
| Meckel Syndrome, Type 1 |
|
Low-set ears, Postaxial foot polydactyly, Occipital encephalocele, Clinodactyly, Large placenta, ... |
OMIM:249000 |
| Viss Syndrome |
|
Low-set ears, Iliac artery aneurysm, Aortic root aneurysm, Tortuous cerebral arteries, Exostosis ... |
OMIM:619472 |
| Ovalocytosis, Southeast Asian |
|
Hemolytic anemia, Elliptocytosis |
OMIM:166900 |
| Kapur-Toriello Syndrome |
|
Low-set ears, Iris coloboma, Joint contracture of the hand, Cataract, Conductive hearing impairme... |
OMIM:244300 |
| Intellectual Disability-Polydactyly-Uncombable Hair Syndrome |
|
Aplasia/Hypoplasia of the earlobes, Pectus carinatum, Aplasia/Hypoplasia of fingers, Toe syndacty... |
ORPHA:3082 |
| Anemia, Congenital Dyserythropoietic, Type Iv |
|
Increased RBC distribution width, Persistence of hemoglobin F, Hepatosplenomegaly, Reduced hemato... |
OMIM:613673 |
| Acrofacial Dysostosis Syndrome Of Rodriguez |
|
Low-set ears, Wide nasal bridge, Short tibia, Clinodactyly, Oligodactyly, Prominent nose, 11 pair... |
OMIM:201170 |
| Heterotaxy, Visceral, 6, Autosomal |
|
Hypoplastic left heart, Total anomalous pulmonary venous return, Unbalanced atrioventricular cana... |
OMIM:614779 |
| Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome |
|
Low-set ears, Choanal atresia, Iris coloboma, Cupped ear, Hearing impairment, Optic disc coloboma... |
ORPHA:52055 |
| Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome |
|
Abnormal form of the vertebral bodies, Joint stiffness, Posterior fusion of lumbosacral vertebrae... |
ORPHA:2064 |
| Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis |
|
Elevated red cell adenosine deaminase activity, Increased mean corpuscular volume, Macrocytic ane... |
OMIM:300946 |
| Adenosine Deaminase, Elevated, Hemolytic Anemia Due To |
|
Reduced erythrocyte adenosine triphosphate concentration, Stomatocytosis, Erythroid hyperplasia, ... |
OMIM:301083 |
| Alpha-Thalassemia |
|
Extramedullary hematopoiesis, Microcytic anemia, Hemoglobin Barts, Hepatosplenomegaly, Hypersplen... |
ORPHA:846 |
| Intellectual Developmental Disorder, Autosomal Dominant 52 |
|
Low-set ears, Depressed nasal bridge, Pectus carinatum, Prominent nose, Anteverted nares, Asymmet... |
OMIM:617796 |
| Cardiac Diverticulum |
|
Aortic valve stenosis, Aplasia/Hypoplasia of the sternum, Mitral valve prolapse, Ventricular sept... |
ORPHA:1686 |
| Deafness, Congenital Heart Defects, And Posterior Embryotoxon |
|
Abnormal vestibular function, Peripheral pulmonary artery stenosis, Tetralogy of Fallot, Sensorin... |
OMIM:617992 |
| Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations |
|
Aortic valve stenosis, Ventricular hypertrophy, Hearing impairment, Elbow dislocation, Genu valgu... |
OMIM:143095 |
| Imperforate Oropharynx-Costovertebral Anomalies Syndrome |
|
Low-set ears, Choanal atresia, Wide nasal bridge, Abnormal form of the vertebral bodies, Clinodac... |
ORPHA:2759 |
| Juberg-Hayward Syndrome |
|
Severe short stature, Abnormal vertebral morphology, Toe syndactyly, Short thumb, Intrauterine gr... |
ORPHA:2319 |
| Thakker-Donnai Syndrome |
|
Tetralogy of Fallot, Bulbous nose, Intrauterine growth retardation, Anteverted nares, Congenital ... |
ORPHA:1780 |
| Kbg Syndrome |
|
Radial deviation of finger, Underdeveloped nasal alae, Cervical ribs, Delayed skeletal maturation... |
OMIM:148050 |
| Weill-Marchesani Syndrome 1 |
|
Aortic valve stenosis, Broad phalanges of the hand, Mitral regurgitation, Ventricular septal defe... |
OMIM:277600 |
| Septopreoptic Holoprosencephaly |
|
Abnormal vertebral morphology, Coarctation of aorta, Ethmoidal encephalocele, Abnormal rib morpho... |
ORPHA:280195 |
| Limb Body Wall Complex |
|
Progressive congenital scoliosis, Cutaneous finger syndactyly, Congenital diaphragmatic hernia, E... |
ORPHA:2369 |
| Chromosome 16P13.3 Duplication Syndrome |
|
Low-set ears, Micrognathia, Ventricular septal defect, Short neck, Atrial septal defect, Small th... |
OMIM:613458 |
| Melnick-Needles Syndrome |
|
Anisospondyly, Narrow chest, Short distal phalanx of finger, Hearing impairment, Abnormal rib mor... |
ORPHA:2484 |
| Renpenning Syndrome |
|
Severe short stature, Iris coloboma, Cataract, Skeletal muscle atrophy, Broad columella, Abnormal... |
ORPHA:3242 |
| Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome |
|
Low-set ears, Depressed nasal bridge, Wide nasal bridge, Abnormal form of the vertebral bodies, S... |
ORPHA:2180 |
| Lethal Congenital Contracture Syndrome Type 1 |
|
Skeletal muscle atrophy, Abnormal form of the vertebral bodies, Limitation of joint mobility, Amn... |
ORPHA:1486 |
| Erythrocytosis, Familial, 3 |
|
Increased circulating hemoglobin concentration, Increased hematocrit, Increased red blood cell mass |
OMIM:609820 |
| Orofaciodigital Syndrome Xvii |
|
Low-set ears, Hearing impairment, Clinodactyly, Clubbing of fingers, Tetralogy of Fallot, Promine... |
OMIM:617926 |
| Mucopolysaccharidosis Type 6 |
|
Epiphyseal dysplasia, Recurrent upper respiratory tract infections, Kyphosis, Hearing impairment,... |
ORPHA:583 |
| Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness |
|
Recurrent otitis media, Genu valgum, Broad foot, Carpal bone hypoplasia, Broad phalanx, Metaphyse... |
OMIM:250420 |
| Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects |
|
Low-set ears, Depressed nasal bridge, Clinodactyly, Bulbous nose, Patent foramen ovale, Talipes e... |
OMIM:616789 |
| Tibial Hemimelia |
|
Absent tibia |
OMIM:275220 |
| Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Platyspondyly, Pectus carinatum, Narrow chest, Polysyndactyly of hallux, Postaxial polysyndactyly... |
OMIM:263520 |
| Heterotaxy, Visceral, 12, Autosomal |
|
Ventricular septal defect, Discordant atrioventricular connection, Single coronary artery origin,... |
OMIM:619702 |
| Spondylocostal Dysostosis 3, Autosomal Recessive |
|
Slender finger, Hypoplasia of the odontoid process, Contracture of the proximal interphalangeal j... |
OMIM:609813 |
| Autosomal Recessive Multiple Pterygium Syndrome |
|
Low-set ears, Limitation of joint mobility, Hearing impairment, Finger syndactyly, Micrognathia, ... |
ORPHA:2990 |
| Giant Cell Arteritis |
|
Epistaxis, Vasculitis, Conductive hearing impairment, Hearing impairment, Aortic dissection, Doub... |
ORPHA:397 |
| Cenani-Lenz Syndrome |
|
Synostosis of joints, Toe syndactyly, Synostosis of carpal bones, Hearing impairment, Elbow dislo... |
ORPHA:3258 |
| Catel-Manzke Syndrome |
|
Low-set ears, Narrow naris, Postnatal growth retardation, Ulnar deviation of the 2nd finger, Genu... |
OMIM:616145 |
| Mucopolysaccharidosis, Type X |
|
Aortic valve stenosis, Wide nasal bridge, Platyspondyly, Broad clavicles, Aortic regurgitation, I... |
OMIM:619698 |
| Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures |
|
Epiphyseal dysplasia, Radial bowing, Carpal synostosis, Genu valgum, Micrognathia, Mitral regurgi... |
OMIM:271640 |
| De Barsy Syndrome |
|
Low-set ears, Decreased muscle mass, Prominent veins on trunk, Talipes calcaneovalgus, Postnatal ... |
ORPHA:2962 |
| Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development |
|
Aplasia/Hypoplasia of the radius, Absent thumb, Short tibia, Delayed skeletal maturation, Fibular... |
OMIM:612447 |
| Aminopterin/Methotrexate Embryofetopathy |
|
Wide nasal bridge, Spinal dysraphism, Finger syndactyly, Micromelia, Tetralogy of Fallot, Low-set... |
ORPHA:1908 |
| Orofaciodigital Syndrome Type 10 |
|
Depressed nasal bridge, Polysyndactyly of hallux, Radial deviation of the hand, Short tibia, Shor... |
ORPHA:2756 |
| Apert Syndrome |
|
Delayed epiphyseal ossification, Lambdoidal craniosynostosis, Broad thumb, Synostosis of carpal b... |
OMIM:101200 |
| Fibrodysplasia Ossificans Progressiva |
|
Conductive hearing impairment, Broad femoral neck, Small cervical vertebral bodies, Short 1st met... |
OMIM:135100 |
| Congenital Disorder Of Glycosylation, Type Iig |
|
Low-set ears, Small hand, Shallow acetabular fossae, Postnatal growth retardation, Micrognathia, ... |
OMIM:611209 |
| Orofaciodigital Syndrome Viii |
|
Bifid nasal tip, Broad nasal tip, Short tibia, Polydactyly, Short stature, Syndactyly |
OMIM:300484 |
| Autosomal Recessive Robinow Syndrome |
|
Toe syndactyly, Synostosis of carpal bones, Hearing impairment, Elbow dislocation, Finger syndact... |
ORPHA:1507 |
| Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type |
|
Dysplastic iliac wing, Flat acetabular roof, Ovoid vertebral bodies, Disproportionate short-limb ... |
OMIM:608728 |
| Erythrocytosis, Familial, 7 |
|
Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia |
OMIM:617981 |
| Erythrocytosis, Familial, 6 |
|
Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia |
OMIM:617980 |
| Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis |
|
Low-set ears, Wide nasal bridge, Intrauterine growth retardation, Joint hypermobility, Cervical C... |
OMIM:617333 |
| Mosaic Trisomy 9 |
|
Low-set ears, Limitation of joint mobility, Elbow dislocation, Endocardial fibroelastosis, Microg... |
ORPHA:99776 |
| Acitretin/Etretinate Embryopathy |
|
Hypoplastic nasal septum, Cupped ear, Premature birth, Third degree atrioventricular block, Abnor... |
ORPHA:40366 |
| Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Delayed epiphyseal ossification, Widened greater sciatic notch, Talipes equinovarus, Short neck, ... |
OMIM:250220 |
| Hurler Syndrome |
|
Abnormal vertebral morphology, Limitation of joint mobility, Hearing impairment, Endocardial fibr... |
ORPHA:93473 |
| Osteogenesis Imperfecta, Type Ix |
|
Platyspondyly, Pectus carinatum, Disproportionate short-limb short stature, Recurrent fractures, ... |
OMIM:259440 |
| Microphthalmia With Limb Anomalies |
|
Low-set ears, Flared nostrils, Toe syndactyly, Postaxial foot polydactyly, Postnatal growth retar... |
OMIM:206920 |
| Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly |
|
Radial bowing, Genu valgum, Thoracolumbar scoliosis, Metaphyseal dysplasia, Ovoid vertebral bodie... |
OMIM:618019 |
| Congenital Heart Defects, Multiple Types, 2 |
|
Aortic valve stenosis, Aortic regurgitation, Myxomatous mitral valve degeneration, Congestive hea... |
OMIM:614980 |
| Fibrochondrogenesis 2 |
|
Platyspondyly, Hypoplastic ilia, Metaphyseal cupping, Thoracic hypoplasia, Anteverted nares, Bell... |
OMIM:614524 |
| Chops Syndrome |
|
Cataract, Hearing impairment, Tracheomalacia, Anteverted nares, Patent foramen ovale, Ventricular... |
OMIM:616368 |
| Otopalatodigital Syndrome, Type Ii |
|
Low-set ears, Toe syndactyly, Broad thumb, Radial bowing, Rudimentary fibula, Postnatal growth re... |
OMIM:304120 |
| Bone Marrow Failure Syndrome 6 |
|
Increased mean corpuscular volume, Persistence of hemoglobin F, Lymphopenia, Neutropenia, Anemia |
OMIM:618849 |
| Multiple Synostoses Syndrome 1 |
|
Hypoplastic nasal septum, Bilateral conductive hearing impairment, Carpal synostosis, Cutaneous f... |
OMIM:186500 |
| Gm1-Gangliosidosis, Type I |
|
Severe short stature, Depressed nasal ridge, Dilated cardiomyopathy, Cherry red spot of the macul... |
OMIM:230500 |
| Faciodigitogenital Syndrome, Autosomal Recessive |
|
Abnormal rib cage morphology, Hearing impairment, Anteverted nares, Prominent nasal bridge, Clino... |
OMIM:227330 |
| Sprengel Deformity |
|
Neck muscle hypoplasia, Rib segmentation abnormalities, Sprengel anomaly, Hemivertebrae, Spina bi... |
OMIM:184400 |
| Shprintzen-Goldberg Craniosynostosis Syndrome |
|
Low-set ears, Thin ribs, Joint contracture of the hand, Genu valgum, Micrognathia, Mitral valve p... |
OMIM:182212 |
| Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3 |
|
Platyspondyly, Thin ribs, Metaphyseal irregularity, Multiple joint dislocation, Short femoral nec... |
OMIM:618395 |
| X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Low-set ears, Depressed nasal ridge, Rhizomelia, Platyspondyly, Thin ribs, Abnormality of the cal... |
ORPHA:163966 |
| Leopard Syndrome 3 |
|
Low-set ears, Depressed nasal bridge, Delayed skeletal maturation, Tetralogy of Fallot, Abnormal ... |
OMIM:613707 |
| Vater/Vacterl Association |
|
Abnormal vertebral morphology, Occipital encephalocele, Postnatal growth retardation, Ventricular... |
OMIM:192350 |
| Mucopolysaccharidosis, Type Iiia |
|
Recurrent upper respiratory tract infections, Hearing impairment, Umbilical hernia, Joint stiffne... |
OMIM:252900 |
| Doors Syndrome |
|
Low-set ears, Wide nasal base, Atresia of the external auditory canal, Equinovarus deformity, Lum... |
ORPHA:79500 |
| Blomstrand Lethal Chondrodysplasia |
|
Low-set ears, Synostosis of joints, Distal shortening of limbs, Micrognathia, Bowing of the long ... |
ORPHA:50945 |
| Heterotaxy, Visceral, 8, Autosomal |
|
Aortopulmonary collateral arteries, Hypoplastic left heart, Unbalanced atrioventricular canal def... |
OMIM:617205 |
| Ivic Syndrome |
|
Hearing impairment, Carpal synostosis, Hypoplasia of deltoid muscle, Limited elbow movement, Carp... |
OMIM:147750 |
| Schwartz-Jampel Syndrome |
|
Elbow dislocation, Genu valgum, Micrognathia, Hip contracture, Myopathy, Bowing of the long bones... |
ORPHA:800 |
| Grant Syndrome |
|
Depressed nasal bridge, Narrow chest, Abnormality of the glenoid fossa, Joint dislocation, Abnorm... |
ORPHA:2097 |
| Ventricular Septal Defect 1 |
|
Tetralogy of Fallot, Atrioventricular canal defect, Ventricular septal defect, Atrial septal defe... |
OMIM:614429 |
| Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome |
|
Short stature, Abnormal rib morphology |
ORPHA:2435 |
| Craniosynostosis, Herrmann-Opitz Type |
|
Finger syndactyly, Micromelia, Intrauterine growth retardation, Oligohydramnios, Micrognathia, Ab... |
ORPHA:2145 |
| Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy |
|
Ectopia pupillae, Recurrent otitis media, Postnatal growth retardation, Hypoplastic inferior ilia... |
OMIM:608940 |
| Neurogenic Thoracic Outlet Syndrome |
|
Abnormal rib morphology |
ORPHA:100073 |
| German Syndrome |
|
Wide nasal bridge, Depressed nasal bridge, Limitation of joint mobility, Camptodactyly of finger,... |
ORPHA:2077 |
| 10Q22.3Q23.3 Microduplication Syndrome |
|
Low-set ears, Microretrognathia, Abnormal clavicle morphology, Tetralogy of Fallot, Abnormal rib ... |
ORPHA:276422 |
| Three M Syndrome 2 |
|
Severe short stature, Depressed nasal bridge, Thin ribs, Pectus carinatum, Short 5th finger, Clin... |
OMIM:612921 |
| Recombinant 8 Syndrome |
|
Low-set ears, Abnormality of the outer ear, Depressed nasal bridge, Hearing impairment, Abnormal ... |
ORPHA:96167 |
| Poland Syndrome |
|
Abnormality of the outer ear, Small hand, Finger syndactyly, Aplasia/Hypoplasia of the sternum, C... |
ORPHA:2911 |
| Mosaic Trisomy 8 |
|
Limitation of joint mobility, Hearing impairment, Micrognathia, Abnormal antihelix morphology, Pa... |
ORPHA:96061 |
| Isotretinoin-Like Syndrome |
|
Aortic valve stenosis, Abnormal aortic arch morphology, Abnormal cardiac ventricle morphology, Ab... |
ORPHA:2306 |
| Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Pear-shaped vertebrae, Platyspondyly, Rhizomelia, Metaphyseal cupping, Radial bowing, Delayed ske... |
OMIM:602111 |
| Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii |
|
Ivory epiphyses, Hypoplastic scapulae, Radial bowing, Moyamoya phenomenon, Postnatal growth retar... |
OMIM:210720 |
| Mungan Syndrome |
|
Tricuspid regurgitation, Perimembranous ventricular septal defect, Pulmonic stenosis |
OMIM:611376 |
| Lamb-Shaffer Syndrome |
|
Broad nasal tip, Micrognathia, Mild postnatal growth retardation, Fused cervical vertebrae, Hip d... |
ORPHA:530983 |
| Trisomy 1Q |
|
Low-set ears, Abnormality of the outer ear, Depressed nasal bridge, Toe syndactyly, Microretrogna... |
ORPHA:261344 |
| Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Abnormal vertebral morphology, Abnormality of the vertebral column, Atrioventricular canal defect... |
OMIM:314390 |
| Nestor-Guillermo Progeria Syndrome |
|
Thin ribs, Micrognathia, Mitral regurgitation, Limited elbow movement, Right atrial enlargement, ... |
OMIM:614008 |
| Endove Syndrome, Limb-Only Type |
|
Cutaneous syndactyly of toes, Aplasia of the distal phalanges of the toes, Umbilical hernia, Shor... |
OMIM:619217 |
| Kapur-Toriello Syndrome |
|
