| Hemoglobin E-Beta-Thalassemia Syndrome |
|
Increased circulating ferritin concentration, Abnormal hemoglobin, Anemia |
ORPHA:231249 |
| Hemoglobin D Disease |
|
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... |
ORPHA:90039 |
| Isolated Osteopoikilosis |
|
Syndactyly, Increased bone mineral density, Abnormal pelvis bone morphology, Abnormally ossified ... |
ORPHA:166119 |
| Syndactyly Type 2 |
|
Mesoaxial polydactyly, Sandal gap, Camptodactyly of finger, 2-3 toe syndactyly, Symphalangism aff... |
ORPHA:93403 |
| Synpolydactyly 1 |
|
2nd-5th toe middle phalangeal hypoplasia, Finger syndactyly, Broad hallux, Mesoaxial hand polydac... |
OMIM:186000 |
| Polydactyly, Preaxial Ii |
|
Syndactyly, Duplication of thumb phalanx, Opposable triphalangeal thumb, Preaxial hand polydactyl... |
OMIM:174500 |
| Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis |
|
Elevated circulating C-reactive protein concentration, Abnormal sacroiliac joint morphology, Cran... |
ORPHA:324964 |
| Melorheostosis |
|
Skeletal muscle atrophy, Increased bone mineral density, Upper limb asymmetry, Atypical scarring ... |
ORPHA:2485 |
| Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome |
|
Amegakaryocytic thrombocytopenia, Finger syndactyly, Radioulnar synostosis, Hip dysplasia, Clinod... |
ORPHA:71289 |
| Hemoglobin-Delta locus |
|
Imbalanced hemoglobin synthesis, Anemia |
OMIM:142000 |
| Endosteal Hyperostosis, Autosomal Dominant |
|
Hyperostosis, Abnormal pelvic girdle bone morphology, Metacarpal diaphyseal endosteal sclerosis, ... |
OMIM:144750 |
| Ghosal Hematodiaphyseal Dysplasia |
|
Craniofacial hyperostosis, Bowing of the long bones, Splenomegaly, Abnormal tibia morphology, Abn... |
ORPHA:1802 |
| Polydactyly, Postaxial, Type A1 |
|
Syndactyly, Preaxial hand polydactyly, Postaxial hand polydactyly, Postaxial foot polydactyly, Tr... |
OMIM:174200 |
| Symphalangism With Multiple Anomalies Of Hands And Feet |
|
Finger syndactyly, 2-5 finger cutaneous syndactyly, Toe syndactyly, Small hypothenar eminence, Ab... |
ORPHA:3246 |
| Congenital Radioulnar Synostosis |
|
Syndactyly, Abnormal morphology of the radius, Congenital hip dislocation, Abnormal morphology of... |
ORPHA:3269 |
| Ossification Anomalies-Psychomotor Developmental Delay Syndrome |
|
Decreased muscle mass, Metaphyseal widening, Triangular shaped distal phalanges of the hand, Abno... |
ORPHA:73230 |
| Camurati-Engelmann Disease |
|
Skeletal muscle atrophy, Anorexia, Abnormal tibia morphology, Craniofacial osteosclerosis, Abnorm... |
ORPHA:1328 |
| Camurati-Engelmann Disease, Type 2 |
|
Osteopenia, Hip contracture, Skeletal muscle atrophy, Knee flexion contracture, Hyperostosis |
OMIM:606631 |
| Thalassemia, Beta+, Silent Allele |
|
Reduced beta/alpha synthesis ratio |
OMIM:187550 |
| Fetal Hemoglobin Quantitative Trait Locus 1 |
|
Persistence of hemoglobin F |
OMIM:141749 |
| Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia |
ORPHA:231393 |
| Hemoglobin H Disease |
|
Splenomegaly, Hemolytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin |
OMIM:613978 |
| Syndactyly, Type Iv |
|
1-5 finger syndactyly, Postaxial polydactyly, 6 metacarpals, 2-3 toe syndactyly, Supernumerary me... |
OMIM:186200 |
| Congenital Amegakaryocytic Thrombocytopenia |
|
Thrombocytopenia, Abnormal hemoglobin, Anemia |
ORPHA:3319 |
| Beta-Thalassemia, Dominant Inclusion Body Type |
|
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Erythrocyte inclu... |
OMIM:603902 |
| Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2 |
|
Periostosis, Hyperostosis, Clubbing, Hypoalbuminemia |
OMIM:614441 |
| Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Persistence of hemoglobin F, Splenomegaly, Abnormal bone structure, Anemia |
ORPHA:46532 |
| Hemoglobin E Disease |
|
Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega... |
ORPHA:2133 |
| Camptosynpolydactyly, Complex |
|
Syndactyly, Polydactyly, Camptodactyly, Cutaneous syndactyly |
OMIM:607539 |
| Syndactyly, Type Iii |
|
Absent middle phalanx of 5th finger, Syndactyly, 4-5 finger syndactyly, Short 5th finger |
OMIM:186100 |
| Congenital Absence Of Upper Arm And Forearm With Hand Present |
|
Syndactyly, Small for gestational age, Upper limb phocomelia, Atypical scarring of skin, Polydact... |
ORPHA:294975 |
| Ankylosing Vertebral Hyperostosis With Tylosis |
|
Punctate palmar hyperkeratosis, Vertebral hyperostosis |
OMIM:106400 |
| Hemoglobin C-Beta-Thalassemia Syndrome |
|
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia |
ORPHA:231242 |
| Hallux Varus And Preaxial Polysyndactyly |
|
Preaxial hand polydactyly, Syndactyly, Broad hallux, Hallux varus |
OMIM:234280 |
| Diabetes Mellitus, Permanent Neonatal, 4 |
|
Small for gestational age, Elevated hemoglobin A1c, Reduced C-peptide level, Diabetic ketoacidosi... |
OMIM:618858 |
| Oculodentodigital Dysplasia |
|
Finger syndactyly, Toe syndactyly, Hypoglycemia, Camptodactyly of finger, Short hallux, Aplasia/H... |
ORPHA:2710 |
| Methemoglobinemia, Beta Type |
|
Methemoglobinemia |
OMIM:617971 |
| Methemoglobinemia, Alpha Type |
|
Methemoglobinemia |
OMIM:617973 |
| Acetophenetidin Sensitivity |
|
Hemolytic anemia, Methemoglobinemia |
OMIM:200300 |
| Delta-Beta-Thalassemia |
|
Abnormal hemoglobin, Anemia, Microcytic anemia |
ORPHA:231237 |
| Triphalangeal Thumb, Nonopposable |
|
Polydactyly, Triphalangeal thumb |
OMIM:190600 |
| Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits |
|
Brachydactyly, Broad hallux, Overlapping toe, Short hallux, Triangular shaped phalanges of the ha... |
OMIM:618167 |
| Wahab Syndrome |
|
Syndactyly, Short metacarpal, Short thumb, Short foot, Short palm, Clinodactyly, Camptodactyly, A... |
OMIM:615170 |
| Diabetes Mellitus, Permanent Neonatal, 1 |
|
Diabetes mellitus, Small for gestational age, Elevated hemoglobin A1c, Reduced C-peptide level, T... |
OMIM:606176 |
| Melorheostosis, Isolated |
|
Hyperostosis, Increased bone mineral density |
OMIM:155950 |
| Hyperostosis Corticalis Generalisata |
|
Facial palsy, Generalized osteosclerosis, Cranial hyperostosis, Abnormal cortical bone morphology... |
ORPHA:3416 |
| Sclerosteosis |
|
Finger syndactyly, Craniofacial hyperostosis, Increased bone mineral density, Facial palsy, 2-3 f... |
ORPHA:3152 |
| Carpenter Syndrome |
|
Syndactyly, Finger syndactyly, Toe syndactyly, Craniosynostosis, Postaxial hand polydactyly, Obes... |
ORPHA:65759 |
| Bardet-Biedl Syndrome 5 |
|
Syndactyly, Polydactyly, Obesity, Brachydactyly |
OMIM:615983 |
| Maturity-Onset Diabetes Of The Young, Type 13 |
|
Diabetes mellitus, Elevated hemoglobin A1c, Maturity-onset diabetes of the young, Maternal diabet... |
OMIM:616329 |
| Jawad Syndrome |
|
Hallux valgus, Single interphalangeal crease of fifth finger, Postaxial polydactyly, Aggressive b... |
OMIM:251255 |
| Oslam Syndrome |
|
Radioulnar synostosis, Neoplasm, Radial deviation of finger, Clinodactyly, Anemia, Osteosarcoma |
OMIM:165660 |
| Polycythemia Vera |
|
Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato... |
OMIM:263300 |
| Anemia, Congenital Dyserythropoietic, Type Iv |
|
Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti... |
OMIM:613673 |
| Calvarial Hyperostosis |
|
Calvarial hyperostosis |
OMIM:302030 |
| Terminal Osseous Dysplasia |
|
Syndactyly, Multiple joint contractures, Camptodactyly of finger, Abnormal hand bone ossification... |
OMIM:300244 |
| Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome |
|
Omphalocele, Finger syndactyly, Congenital diaphragmatic hernia, Aplasia/hypoplasia of the humeru... |
ORPHA:2141 |
| Boomerang Dysplasia |
|
Omphalocele, Finger syndactyly, Abnormal morphology of the radius, Abnormally ossified vertebrae,... |
ORPHA:1263 |
| Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia |
ORPHA:231401 |
| Bardet-Biedl Syndrome 11 |
|
Polydactyly, Obesity |
OMIM:615988 |
| Sickle Cell Anemia |
|
Hemolytic anemia, Reticulocytosis, Microcytic anemia, Abnormality of the spleen, Leukocytosis, El... |
ORPHA:232 |
| Cyanosis, Transient Neonatal |
|
Reticulocytosis, Methemoglobinemia, Anemia |
OMIM:613977 |
| Ghosal Hematodiaphyseal Dysplasia |
|
Refractory anemia, Myelofibrosis, Increased bone mineral density, Diaphyseal dysplasia, Leukopeni... |
OMIM:231095 |
| Chromosome 2Q35 Duplication Syndrome |
|
Sagittal craniosynostosis, 2-3 toe syndactyly, Cutaneous syndactyly, 3-4 finger syndactyly, Dista... |
OMIM:185900 |
| Shwachman-Diamond Syndrome 1 |
|
Acute myeloid leukemia, Myocardial necrosis, Pancytopenia, Small for gestational age, Myelodyspla... |
OMIM:260400 |
| Diabetes Mellitus, Transient Neonatal, 3 |
|
Elevated hemoglobin A1c, Maternal diabetes, Reduced C-peptide level, Transient neonatal diabetes ... |
OMIM:610582 |
| Bardet-Biedl Syndrome 14 |
|
Polydactyly, Obesity |
OMIM:615991 |
| Polydactyly, Postaxial, Type A5 |
|
Syndactyly, Postaxial hand polydactyly, Cutaneous finger syndactyly, Metacarpal synostosis |
OMIM:263450 |
| Erythrocytosis, Familial, 8 |
|
Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:222800 |
| Acromesomelic Dysplasia 2A |
|
Hypoplasia of the ulna, Short humerus, Short femur, Aplasia/Hypoplasia of the patella, Postaxial ... |
OMIM:200700 |
| Bardet-Biedl Syndrome 13 |
|
Polydactyly, Obesity |
OMIM:615990 |
| Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome |
|
Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt... |
ORPHA:251380 |
| Santos Syndrome |
|
Syndactyly, Postaxial polydactyly, Metatarsus adductus, Preaxial polydactyly, Genu valgum, Polyda... |
OMIM:613005 |
| Alpha-Thalassemia Myelodysplasia Syndrome |
|
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia |
OMIM:300448 |
| Erythrocytosis, Familial, 5 |
|
Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:617907 |
| Greig Cephalopolysyndactyly Syndrome |
|
Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Craniosynostosis, Congenital diaphragmat... |
ORPHA:380 |
| Erythrocytosis, Familial, 3 |
|
Increased red blood cell mass, Increased hematocrit, Increased hemoglobin |
OMIM:609820 |
| Alpha-Thalassemia |
|
Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Anemia |
ORPHA:846 |
| Proteus-Like Syndrome |
|
Thymus hyperplasia, Splenomegaly, Hyperostosis, Shagreen patch, Hemangioma, Subcutaneous lipoma, ... |
ORPHA:2969 |
| Erythrocytosis, Familial, 4 |
|
Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:611783 |
| Pelger-Huet Anomaly |
|
Foot dorsiflexor weakness, Abnormality of neutrophils, Hyposegmentation of neutrophil nuclei, Gia... |
OMIM:169400 |
| Polydactyly, Preaxial Iv |
|
Duplication of thumb phalanx, Preaxial polydactyly, Dysplastic distal thumb phalanges with a cent... |
OMIM:174700 |
| Hemochromatosis, Type 4 |
|
Diabetes mellitus, Impaired glucose tolerance, Increased circulating ferritin concentration, Elev... |
OMIM:606069 |
| Weismann-Netter Syndrome |
|
Bowing of the long bones, Abnormal morphology of ulna, Abnormality of the humerus, Abnormal tibia... |
ORPHA:3344 |
| Proteus Syndrome |
|
Splenomegaly, Facial hyperostosis, Mandibular hyperostosis, Multiple lipomas, Calvarial hyperosto... |
OMIM:176920 |
| Bardet-Biedl Syndrome 9 |
|
Syndactyly, Postaxial polydactyly, Postaxial hand polydactyly, Obesity, Postaxial foot polydactyl... |
OMIM:615986 |
| X-Linked Sideroblastic Anemia |
|
Anemia, Splenomegaly, Glucose intolerance, Abnormality of iron homeostasis |
ORPHA:75563 |
| Tumoral Calcinosis, Hyperphosphatemic, Familial, 1 |
|
Calcinosis, Hyperostosis, Subperiosteal bone formation, Hyperphosphatemia, Enamel hypoplasia |
OMIM:211900 |
| Proteus Syndrome |
|
Decreased muscle mass, Neoplasm of the thymus, Abnormal finger morphology, Neoplasm of the centra... |
ORPHA:744 |
| Ectrodactyly-Polydactyly Syndrome |
|
Finger syndactyly, Camptodactyly of finger, Postaxial hand polydactyly, Symphalangism affecting t... |
ORPHA:1892 |
| Erythrocytosis, Familial, 6 |
|
Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:617980 |
| Mesoaxial Synostotic Syndactyly With Phalangeal Reduction |
|
Finger syndactyly, Toe syndactyly, Short hallux, Aplasia/Hypoplasia of the middle phalanges of th... |
ORPHA:157801 |
| Anemia, Congenital Dyserythropoietic, Type Ib |
|
Reticulocytosis, Syndactyly, Anisocytosis, Anemia of inadequate production, Splenomegaly, Poikilo... |
OMIM:615631 |
| Wiskott-Aldrich Syndrome |
|
Hemolytic anemia, Abnormal eosinophil morphology, Microcytic anemia, Thrombocytopenia, Lymphoma, ... |
ORPHA:906 |
| Bardet-Biedl Syndrome 10 |
|
Polydactyly, Obesity |
OMIM:615987 |
| Maturity-Onset Diabetes Of The Young, Type 14 |
|
Diabetes mellitus, Elevated hemoglobin A1c, Maturity-onset diabetes of the young |
OMIM:616511 |
| Split-Hand/Foot Malformation 4 |
|
Syndactyly, Aplasia/Hypoplasia of the phalanges of the hand, Split hand, Aplasia/Hypoplasia of th... |
OMIM:605289 |
| Brachydactyly-Syndactyly Syndrome |
|
Syndactyly, Finger syndactyly, Camptodactyly, Short phalanx of finger, Short digit, Oligodactyly,... |
OMIM:610713 |
| Femur-Fibula-Ulna Complex |
|
Short humerus, Finger syndactyly, Abnormal morphology of ulna, Micromelia, Humeroradial synostosi... |
ORPHA:2019 |
| Summitt Syndrome |
|
Syndactyly, Obesity, Craniosynostosis |
OMIM:272350 |
| Bardet-Biedl Syndrome 7 |
|
Postaxial polydactyly, 2-3 toe syndactyly, Obesity, Polydactyly, Clinodactyly |
OMIM:615984 |
| Osteopetrosis, Autosomal Recessive 2 |
|
Pancytopenia, Extramedullary hematopoiesis, Cranial hyperostosis, Diaphyseal sclerosis, Hepatospl... |
OMIM:259710 |
| Heart-Hand Syndrome, Slovenian Type |
|
Syndactyly, Myopathy, Aplasia of the middle phalanx of the hand, Clinodactyly, Brachydactyly |
OMIM:610140 |
| Rhizomelic Chondrodysplasia Punctata, Type 3 |
|
Short humerus, Short femur, Rhizomelia, Epiphyseal stippling, Failure to thrive |
OMIM:600121 |
| Beta-Thalassemia |
|
Abnormal hemoglobin, Microcytic anemia, Thrombocytopenia, Splenomegaly, Reduced bone mineral dens... |
ORPHA:848 |
| Split-Hand/Foot Malformation 1 |
|
Syndactyly, Broad hallux, Split hand, Hand oligodactyly, Split foot, Foot oligodactyly, Ectrodact... |
OMIM:183600 |
| Bardet-Biedl Syndrome 22 |
|
Large for gestational age, Obesity, Postaxial foot polydactyly, Polydactyly, Polyphagia |
OMIM:617119 |
| Dehydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Anemia of inadequate production, Increased ... |
ORPHA:3202 |
| Erythrocytosis, Familial, 1 |
|
Increased red blood cell mass, Splenomegaly, Increased hematocrit, Increased hemoglobin |
OMIM:133100 |
| Oslam Syndrome |
|
Abnormality of neutrophils, Radioulnar synostosis, Increased mean corpuscular volume, Clinodactyl... |
ORPHA:2760 |
| Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15 |
|
Hypoglycemia, Diastasis recti, Small for gestational age, Upper limb asymmetry, Polydactyly, Decr... |
ORPHA:231140 |
| Familial Tumoral Calcinosis |
|
Splenomegaly, Calcification of muscles, Neoplasm of the skin, Hyperostosis |
ORPHA:53715 |
| Erythrocytosis, Familial, 7 |
|
Increased hematocrit, Polycythemia |
OMIM:617981 |
| Bone Marrow Failure Syndrome 6 |
|
Osteopenia, Squamous cell carcinoma of the tongue, Persistence of hemoglobin F, Increased mean co... |
OMIM:618849 |
| Fibular Hemimelia |
|
Bowing of the legs, Tibial bowing, Foot oligodactyly, Abnormal bone ossification, Short tibia, Ar... |
ORPHA:93323 |
| Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly |
|
Congenital hip dislocation, Abnormal finger flexion crease, Aplasia/Hypoplasia of the 5th finger,... |
OMIM:228930 |
| Angioosteohypotrophic Syndrome |
|
Hypoplasia of the ulna, Short humerus, Abnormal trabecular bone morphology, Aplasia/hypoplasia in... |
ORPHA:75508 |
| Anemia, Congenital Dyserythropoietic, Type Ia |
|
Hemolytic anemia, Reticulocytosis, Syndactyly, Small for gestational age, Anisocytosis, Anemia of... |
OMIM:224120 |
| Ivic Syndrome |
|
Limited elbow movement, Preaxial polydactyly, Pectoralis major hypoplasia, Triphalangeal thumb, H... |
OMIM:147750 |
| Joint Contractures, Osteochondromas, And B-Cell Lymphoma |
|
Osteochondroma, Hip contracture, B-cell lymphoma, Ankle flexion contracture, Reduced bone mineral... |
OMIM:620232 |
| Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1 |
|
Proximal radio-ulnar synostosis, Amegakaryocytic thrombocytopenia, Syndactyly, Radial bowing, Apl... |
OMIM:605432 |
| Mandibuloacral Dysplasia |
|
Loss of subcutaneous adipose tissue in limbs, Hypertriglyceridemia, Lipoatrophy, Increased subcut... |
ORPHA:2457 |
| Multiple Osteochondromas |
|
Deformed radius, Abnormal hand morphology, Abnormal tibia morphology, Metaphyseal widening, Abnor... |
ORPHA:321 |
| X-Linked Hypophosphatemia |
|
Bowing of the legs, Generalized osteosclerosis, Trapezoidal distal femoral condyles, Reduced bone... |
ORPHA:89936 |
| Rhizomelic Chondrodysplasia Punctata, Type 5 |
|
Short humerus, Swan neck-like deformities of the fingers, Skeletal muscle atrophy, Coxa vara, Con... |
OMIM:616716 |
| Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Syndactyly, Nephroblastoma, Polydactyly, Hernia, Leukemia, Meningioma |
OMIM:602501 |
| Sapho Syndrome |
|
Neoplasm of the skeletal system, Abnormal sacroiliac joint morphology, Craniofacial osteosclerosi... |
ORPHA:793 |
| Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures |
|
Syndactyly, Tapered finger, Obesity, Attention deficit hyperactivity disorder, Clinodactyly of th... |
OMIM:618725 |
| Mody |
|
Elevated hemoglobin A1c, Large for gestational age, Overweight, Transient neonatal diabetes melli... |
ORPHA:552 |
| Dominant Beta-Thalassemia |
|
Bowing of the long bones, Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin con... |
ORPHA:231226 |
| Craniometaphyseal Dysplasia, Autosomal Dominant |
|
Facial palsy, Metaphyseal widening, Cranial hyperostosis, Flared metaphysis, Abnormal pelvic gird... |
OMIM:123000 |
| Acrocapitofemoral Dysplasia |
|
Micromelia, Short proximal phalanx of thumb, Coxa vara, Hypoplastic iliac wing, Short palm, Short... |
OMIM:607778 |
| Terminal Osseous Dysplasia-Pigmentary Defects Syndrome |
|
Syndactyly, Osteolysis involving bones of the upper limbs, Flexion contracture, Osteolysis involv... |
ORPHA:88630 |
| Abdominal Obesity-Metabolic Syndrome 4 |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Elevated hemoglobin A1c, Obesity, ... |
OMIM:618620 |
| Sturge-Weber Syndrome |
|
Visceral angiomatosis, Hyperostosis, Capillary hemangioma, Attention deficit hyperactivity disord... |
ORPHA:3205 |
| Beta-Thalassemia Major |
|
Bowing of the long bones, Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin con... |
ORPHA:231214 |
| Diamond-Blackfan Anemia 3 |
|
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Reticulocytopenia |
OMIM:610629 |
| Rothmund-Thomson Syndrome Type 1 |
|
Osteopenia, Aplastic anemia, Patellar hypoplasia, Squamous cell carcinoma, Neutropenia, Short pha... |
ORPHA:221008 |
| Beta-Thalassemia Intermedia |
|
Osteopenia, Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Diabetes mellitus, Anemia of... |
ORPHA:231222 |
| Rhizomelic Dysplasia, Patterson-Lowry Type |
|
Short humerus, Short metacarpal, Rhizomelia, Short metatarsal, Coxa vara, Deformed humeral heads,... |
OMIM:601438 |
| Mesomelic Dysplasia, Nievergelt Type |
|
Finger syndactyly, Bilateral single transverse palmar creases, Abnormal morphology of ulna, Micro... |
ORPHA:2633 |
| Bardet-Biedl Syndrome 4 |
|
Syndactyly, Polydactyly, Obesity, Brachydactyly |
OMIM:615982 |
| Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma |
|
Osteopenia, Skeletal muscle atrophy, Stenosis of the medullary cavity of the long bones, Diaphyse... |
OMIM:112250 |
| Polydactyly, Postaxial, Type A8 |
|
Postaxial polydactyly, Genu valgum |
OMIM:618123 |
| Caffey Disease |
|
Periosteal thickening of long tubular bones, Cortical thickening of long bone diaphyses, Cellulit... |
ORPHA:1310 |
| Orofaciodigital Syndrome Xviii |
|
Sandal gap, Single transverse palmar crease, Postaxial polydactyly, Preaxial polydactyly, Genu va... |
OMIM:617927 |
| Gaisböck Syndrome |
|
Hypertriglyceridemia, Diabetes mellitus, Overweight, Splenomegaly, Increased mean corpuscular hem... |
ORPHA:90041 |
| Diamond-Blackfan Anemia 21 |
|
Hallux valgus, Sandal gap, Tapered finger, Erythroid hypoplasia, Short toe, Preaxial hand polydac... |
OMIM:620072 |
| Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Decreased adipose tissue around neck, Hyperlipidemi... |
OMIM:608612 |
| Erythrocytosis, Familial, 2 |
|
Increased red blood cell mass, Failure to thrive, Increased hematocrit, Increased hemoglobin |
OMIM:263400 |
| Van Buchem Disease |
|
Increased bone mineral density, Cranial hyperostosis, Thickened cortex of long bones |
OMIM:239100 |
| Methylcobalamin Deficiency Type Cble |
|
Hypomethioninemia, Macrocytic anemia, Pancytopenia, Syndactyly, Osteoporosis, Hyperhomocystinemia... |
ORPHA:2169 |
| Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16 |
|
Microcytic anemia, Short toe, Flexion contracture, Talipes equinovarus, Failure to thrive, HbH he... |
ORPHA:98791 |
| Microcephaly, Epilepsy, And Diabetes Syndrome 2 |
|
Diabetes mellitus, Small for gestational age, Elevated hemoglobin A1c |
OMIM:619278 |
| Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull |
|
Omphalocele, Syndactyly, Toe syndactyly, Congenital diaphragmatic hernia, Clinodactyly of the 5th... |
OMIM:601163 |
| Proximal Symphalangism |
|
Finger syndactyly, Brachydactyly, Camptodactyly of finger, Tarsal synostosis, Metacarpophalangeal... |
ORPHA:3250 |
| Polydactyly, Postaxial, Type A9 |
|
Postaxial foot polydactyly, Postaxial hand polydactyly |
OMIM:618219 |
| Rothmund-Thomson Syndrome Type 2 |
|
Osteopenia, Aplastic anemia, Patellar hypoplasia, Squamous cell carcinoma, Neutropenia, Short pha... |
ORPHA:221016 |
| Moebius Syndrome |
|
Syndactyly, Brachydactyly, Split hand, Dysphagia, Congenital fibrosis of extraocular muscles, Abn... |
OMIM:157900 |
| Rhizomelic Dysplasia, Ain-Naz Type |
|
Short humerus, Short femur, Rhizomelia, Hypoplasia of the femoral head, Wide distal femoral metap... |
OMIM:619598 |
| Juvenile Paget Disease |
|
Bowing of the long bones, Cranial hyperostosis, Osteoporosis, Hyperuricemia, Coarse metaphyseal t... |
ORPHA:2801 |
| Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction |
|
Hyperglycemia, Elevated hemoglobin A1c, Maturity-onset diabetes of the young |
OMIM:609812 |
| Czech Dysplasia |
|
Narrow femoral neck, Osteochondroma, Short metacarpal, Flat capital femoral epiphysis, Short toe,... |
OMIM:609162 |
| Fibrous Dysplasia Of Bone |
|
Abnormal tibia morphology, Abnormal femur morphology, Coxa vara, Thyroid carcinoma, Neoplasm of t... |
ORPHA:249 |
| Bardet-Biedl Syndrome 16 |
|
Polydactyly, Obesity |
OMIM:615993 |
| Multiple Synostoses Syndrome 1 |
|
Single transverse palmar crease, Symphalangism affecting the phalanges of the hand, Cutaneous fin... |
OMIM:186500 |
| Rhizomelic Chondrodysplasia Punctata, Type 2 |
|
Osteopenia, Short humerus, Decreased circulating plasmalogen concentration, Inguinal hernia, Rhiz... |
OMIM:222765 |
| Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly |
|
Metaphyseal dysplasia, Radial bowing, Rhizomelia, Broad hallux, Bowed humerus, Hyposegmentation o... |
OMIM:618019 |
| Primary Familial Polycythemia |
|
Polycythemia, Abnormal hemoglobin |
ORPHA:90042 |
| Adenosine Triphosphate, Elevated, Of Erythrocytes |
|
Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia |
OMIM:102900 |
| Beta-Thalassemia |
|
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia |
OMIM:613985 |
| Alpha-Thalassemia |
|
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia |
OMIM:604131 |
| Brachydactyly, Type B1 |
|
Type B brachydactyly, Syndactyly, Aplasia/Hypoplasia of the distal phalanges of the toes, Aplasia... |
OMIM:113000 |
| Osteopetrosis, Autosomal Recessive 5 |
|
Pancytopenia, Extramedullary hematopoiesis, Increased bone mineral density, Facial palsy, Thrombo... |
OMIM:259720 |
| Diamond-Blackfan Anemia 6 |
|
Macrocytic anemia, Short thumb, Persistence of hemoglobin F, Increased mean corpuscular volume, T... |
OMIM:612561 |
| Acropectoral Syndrome |
|
Partial duplication of thumb phalanx, Preaxial polydactyly, Triphalangeal thumb |
OMIM:605967 |
| Holt-Oram Syndrome |
|
Syndactyly, Hypoplasia of the ulna, Short humerus, Aplasia of the ulna, Absent thumb, Absent radi... |
OMIM:142900 |
| Bone Marrow Failure Syndrome 3 |
|
Acute myeloid leukemia, Metaphyseal dysplasia, Pancytopenia, Congenital hip dislocation, Aplastic... |
OMIM:617052 |
| Li-Fraumeni Syndrome |
|
Astrocytoma, Neoplasm of the central nervous system, Neoplasm, Thyroid carcinoma, Prostate cancer... |
ORPHA:524 |
| Weismann-Netter Syndrome |
|
Anterior tibial bowing, Squared iliac bones, Lateral femoral bowing, Fibular bowing, Calvarial hy... |
OMIM:112350 |
| Tibial Aplasia-Ectrodactyly Syndrome |
|
Omphalocele, Finger syndactyly, Short femur, Preaxial hand polydactyly, Postaxial hand polydactyl... |
ORPHA:3329 |
| Poland Syndrome |
|
Syndactyly, Unilateral oligodactyly, Unilateral absence of pectoralis major muscle, Unilateral hy... |
OMIM:173800 |
| Werner Syndrome |
|
Diabetes mellitus, Hypertriglyceridemia, Elevated hemoglobin A1c, Osteoporosis, Reduced bone mine... |
OMIM:277700 |
| Oncogenic Osteomalacia |
|
Abnormal pelvis bone morphology, Neoplasm of the skeletal system, Neoplasm of head and neck, Abno... |
ORPHA:352540 |
| Müllerian Duct Anomalies-Limb Anomalies Syndrome |
|
Short humerus, Micromelia, Postaxial hand polydactyly, Split hand, Abnormality of the elbow, Apla... |
ORPHA:2491 |
| Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia |
|
Aplasia/Hypoplasia of the thumb, Short humerus, Absent radius, Elbow dislocation, Ulnar bowing, S... |
OMIM:171480 |
| Diamond-Blackfan Anemia |
|
Pure red cell aplasia, Reticulocytopenia, Leukopenia, Triphalangeal thumb, Neutropenia, Adenocarc... |
ORPHA:124 |
| Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia |
|
Elevated circulating creatine kinase concentration, Fatty replacement of skeletal muscle, Osteoly... |
ORPHA:52430 |
| Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis |
|
Osteopenia, Anemia of inadequate production, Splenomegaly, Steatorrhea, Calvarial hyperostosis, F... |
OMIM:612714 |
| Orofaciodigital Syndrome Viii |
|
Syndactyly, Short tibia, Hamartoma, Polydactyly |
OMIM:300484 |
| Hb Bart'S Hydrops Fetalis |
|
Splenomegaly, Abnormal hemoglobin, Anemia |
ORPHA:163596 |
| Short Stature With Microcephaly And Distinctive Facies |
|
Osteopenia, Syndactyly, Brachydactyly, Small for gestational age, Proximal placement of thumb, An... |
OMIM:615789 |
| Polydactyly, Preaxial Iii |
|
Preaxial polydactyly, Triphalangeal thumb |
OMIM:174600 |
| Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis |
|
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume |
OMIM:300946 |
| Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome |
|
Short humerus, Short metacarpal, Myelodysplasia, Thrombocytopenia, Reticulocytopenia, Leukopenia,... |
ORPHA:508542 |
| Rhizomelic Dysplasia, Patterson-Lowry Type |
|
Short humerus, Short metacarpal, Rhizomelia, Coxa vara, Genu valgum, Deviation of finger, Deforme... |
ORPHA:2831 |
| Seckel Syndrome 10 |
|
Hypertriglyceridemia, Diabetes mellitus, Elevated hemoglobin A1c, Impaired glucose tolerance, Met... |
OMIM:617253 |
| Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
|
Methemoglobinemia, Polycythemia |
OMIM:250800 |
| Caffey Disease |
|
Bowing of the legs, Tibial bowing, Periosteal thickening of long tubular bones, Subperiosteal bon... |
OMIM:114000 |
| Joubert Syndrome 20 |
|
4-5 toe syndactyly, Self-mutilation, Postaxial polydactyly, Aggressive behavior |
OMIM:614970 |
| Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities |
|
Hypoplasia of the ulna, Short humerus, Hypoplastic scapulae, Rhizomelia, Flared metaphysis, Hip d... |
OMIM:602471 |
| Tibial Hemimelia |
|
Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Knee flexion contracture, Cutaneous... |
ORPHA:93322 |
| Spondylometaphyseal Dysplasia, Algerian Type |
|
Metaphyseal dysplasia, Bowed humerus, Short tubular bones of the hand, Tibial metaphyseal irregul... |
OMIM:184253 |
| Orofaciodigital Syndrome Xvii |
|
Short middle phalanx of the 2nd finger, Partial duplication of thumb phalanx, Central Y-shaped me... |
OMIM:617926 |
| Acheiropodia |
|
Short humerus, Aplasia of the ulna, Absent radius, Absent hand, Upper limb phocomelia, Abnormal e... |
ORPHA:931 |
| Nephronophthisis 15 |
|
Polydactyly, Obesity |
OMIM:614845 |
| Synpolydactyly 2 |
|
Toe syndactyly, Tarsal synostosis, Polydactyly, Carpal synostosis, Metatarsal synostosis, Metacar... |
OMIM:608180 |
| Bardet-Biedl Syndrome 17 |
|
Mesoaxial polydactyly, Short fourth metatarsal, Mesoaxial hand polydactyly, Postaxial hand polyda... |
OMIM:615994 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Finger syndactyly, Tibial torsion, Aplasia/hypoplasia of the humerus, Absent radius, Coxa valga, ... |
ORPHA:3320 |
| Hereditary Methemoglobinemia |
|
Small for gestational age, Methemoglobinemia |
ORPHA:621 |
| Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly |
|
Short metacarpal, Brachydactyly, Sandal gap, Postaxial polydactyly, Short metatarsal, Cone-shaped... |
OMIM:617102 |
| Al-Gazali-Bakalinova Syndrome |
|
Epiphyseal dysplasia, Inguinal hernia, Tapered finger, Flattened epiphysis, Genu valgum, Polydact... |
OMIM:607131 |
| X-Linked Intellectual Disability-Short Stature-Overweight Syndrome |
|
Single transverse palmar crease, Overweight, Cranial hyperostosis, Hip dysplasia, Abnormal repeti... |
ORPHA:457240 |
| Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency |
|
Syndactyly, Large for gestational age, Anemia, Neutropenia, Umbilical hernia, Failure to thrive, ... |
OMIM:614520 |
| Laurin-Sandrow Syndrome |
|
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Tarsal synostosis, Abnormalit... |
ORPHA:2378 |
| Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome |
|
Aplasia/Hypoplasia of the thumb, Short humerus, Hypoplasia of the ulna, Radial club hand, Ulnar b... |
ORPHA:2878 |
| Silver-Russell Syndrome Due To A Point Mutation |
|
Syndactyly, Inguinal hernia, Hypoglycemia, Small for gestational age, Short 5th finger, Polydacty... |
ORPHA:397590 |
| Morgagni-Stewart-Morel Syndrome |
|
Diabetes mellitus, Osteoporosis, Obesity, Hyperostosis frontalis interna, Hyperuricemia, Hypercho... |
ORPHA:77296 |
| Poems Syndrome |
|
Sclerosis of hand bone, Diabetes mellitus, Lymphoproliferative disorder, Sclerosis of foot bone, ... |
ORPHA:2905 |
| Al-Gazali Syndrome |
|
Proximal radio-ulnar synostosis, Osteopenia, Bowed humerus, Bilateral talipes equinovarus, Broad ... |
OMIM:609465 |
| Thymoma |
|
Myositis, Aplastic anemia, Pure red cell aplasia, Neoplasm of head and neck, Imbalanced hemoglobi... |
ORPHA:99867 |
| Insulin-Resistance Syndrome Type B |
|
Fasting hyperinsulinemia, Increased body weight, Leukopenia, Glucose intolerance, Hypoalbuminemia... |
ORPHA:2298 |
| Tempi Syndrome |
|
Increased hematocrit, Polycythemia |
ORPHA:284227 |
| Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi |
|
Sandal gap, Macrodactyly, Splenomegaly, Cranial hyperostosis, Lipoma, Nephroblastoma |
OMIM:612918 |
| Li-Fraumeni Syndrome |
|
Neoplasm of the pancreas, Adrenocortical carcinoma, Soft tissue sarcoma, Breast carcinoma, Acute ... |
OMIM:151623 |
| Diamond-Blackfan Anemia 1 |
|
Macrocytic anemia, Myelodysplasia, Congenital hypoplastic anemia, Absent thumb, Short thumb, Hypo... |
OMIM:105650 |
| Orofaciodigital Syndrome Type 10 |
|
Radial deviation of the hand, Duplication of thumb phalanx, Tarsal synostosis, Short toe, Preaxia... |
ORPHA:2756 |
| Roberts Syndrome |
|
Aplasia/Hypoplasia of the thumb, Proximal placement of thumb, Knee flexion contracture, Midface c... |
ORPHA:3103 |
| Osteopetrosis, Autosomal Recessive 3 |
|
Extramedullary hematopoiesis, Cranial hyperostosis, Diaphyseal sclerosis, Hepatosplenomegaly, Ost... |
OMIM:259730 |
| Bent Bone Dysplasia Syndrome 2 |
|
Osteopenia, Ulnar deviation of the hand, Bowed humerus, Ulnar bowing, Femoral bowing, Decreased c... |
OMIM:620076 |
| Lead Poisoning |
|
Decreased HDL cholesterol concentration, Small for gestational age, Anorexia, Cranial hyperostosi... |
ORPHA:330015 |
| Acheiropody |
|
Carpal bone aplasia, Short humerus, Aplasia of the phalanges of the hand, Aplasia of the ulna, Ab... |
OMIM:200500 |
| Paget Disease Of Bone 5, Juvenile-Onset |
|
Osteopenia, Short humerus, Bowing of the long bones, Increased bone mineral density, Macular scar... |
OMIM:239000 |
| Congenital Disorder Of Glycosylation, Type Iil |
|
Pancytopenia, Elevated circulating creatine kinase concentration, Postaxial polydactyly, Splenome... |
OMIM:614576 |
| 3P25.3 Microdeletion Syndrome |
|
Skeletal muscle atrophy, Broad hallux, Overlapping toe, Proximal placement of thumb, Tapered fing... |
ORPHA:435638 |
| Orofaciodigital Syndrome Iv |
|
Toe syndactyly, Postaxial polydactyly, Hamartoma of tongue, Hand polydactyly, Foot polydactyly, S... |
OMIM:258860 |
| Paget Disease Of Bone 3 |
|
Fractures of the long bones, Osteolysis, Patchy osteosclerosis, Osteosarcoma |
OMIM:167250 |
| Hurler Syndrome |
|
Inguinal hernia, Hypoplasia of the femoral head, Coxa valga, Splenomegaly, Metaphyseal widening, ... |
OMIM:607014 |
| Nevus Comedonicus Syndrome |
|
Hamartoma, Finger syndactyly, Toe syndactyly, Preaxial polydactyly |
ORPHA:64754 |
| Camptodactyly, Tall Stature, And Hearing Loss Syndrome |
|
Osteochondroma, Arachnodactyly, Camptodactyly, Camptodactyly of toe, Broad femoral metaphyses |
OMIM:610474 |
| Laurin-Sandrow Syndrome |
|
Syndactyly, Absent radius, Patellar aplasia, Short foot, Hand polydactyly, Triphalangeal thumb, A... |
OMIM:135750 |
| Joubert Syndrome 18 |
|
Bowing of the long bones, Trident pelvis, Postaxial polydactyly, Talipes equinovarus, Camptodactyly |
OMIM:614815 |
| 20P13 Microdeletion Syndrome |
|
Finger syndactyly, Failure to thrive in infancy, Polydactyly, Decreased body weight, Clinodactyly... |
ORPHA:313781 |
| Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly |
|
Short long bone, Obesity, Postaxial polydactyly, Brachydactyly |
OMIM:615633 |
| Humerofemoral Hypoplasia With Radiotibial Ray Deficiency |
|
Hypoplastic scapulae, Bowed humerus, Congenital diaphragmatic hernia, Absent thumb, Elbow flexion... |
OMIM:618022 |
| Senior-Loken Syndrome 9 |
|
Osteopenia, Polydactyly, Hypoplasia of the femoral head, Obesity |
OMIM:616629 |
| Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome |
|
Abnormal hemoglobin, Flexion contracture, Self-injurious behavior, Macroglossia, Talipes equinova... |
ORPHA:847 |
| Limb-Mammary Syndrome |
|
Hallux valgus, Syndactyly, Split hand, Split foot, Camptodactyly, Joint contracture of the hand |
OMIM:603543 |
| Legius Syndrome |
|
Hyperactivity, Acute monocytic leukemia, Non-small cell lung carcinoma, Neurofibroma, Desmoid tum... |
ORPHA:137605 |
| Short-Rib Thoracic Dysplasia 18 With Polydactyly |
|
Radial bowing, Single transverse palmar crease, Micromelia, Postaxial polydactyly, Ulnar bowing, ... |
OMIM:617866 |
| Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin |
|
Persistence of hemoglobin F, Umbilical hernia, Overweight, Hiatus hernia |
OMIM:619769 |
| Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome |
|
Syndactyly, Abnormality of the hand, Hand oligodactyly, Tibial bowing, Foot oligodactyly, Short t... |
OMIM:246570 |
| Osteogenesis Imperfecta, Type Xvii |
|
Decreased muscle mass, Bowed humerus, Dentinogenesis imperfecta, Hip dislocation, Osteoporosis, R... |
OMIM:616507 |
| Bardet-Biedl Syndrome 6 |
|
Syndactyly, Diabetes mellitus, Obesity, Postaxial polydactyly |
OMIM:605231 |
| Poland Syndrome |
|
Aplasia/Hypoplasia of the thumb, Congenital diaphragmatic hernia, Aplasia of the pectoralis major... |
ORPHA:2911 |
| Atypical Werner Syndrome |
|
Sclerosis of hand bone, Skeletal muscle atrophy, Fasting hyperinsulinemia, Reduced bone mineral d... |
ORPHA:79474 |
| Kyphomelic Dysplasia |
|
Short humerus, Short metacarpal, Radial bowing, Short femur, Bowed humerus, Micromelia, Ulnar bow... |
OMIM:211350 |
| X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome |
|
Elevated amniotic fluid alpha-fetoprotein, Severe failure to thrive, HbH hemoglobin |
ORPHA:423479 |
| Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Tapered finger, Coxa valga, Abnormal repetitive mannerisms, Reduced alpha/beta synthesis ratio, H... |
OMIM:301040 |
| Pseudohypoparathyroidism Type 1A |
|
Short metatarsal, Reduced bone mineral density, Hypocalcemia, Hypocalcemic tetany, Broad distal p... |
ORPHA:79443 |
| Laurence-Moon Syndrome |
|
Polydactyly, Obesity, Abnormality of the hand |
OMIM:245800 |
| Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3 |
|
Polydactyly, Hypoplastic ischia |
OMIM:616910 |
| Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Hypoplasia of the ulna, Metaphyseal spurs, Postaxial polydactyly, Hamartoma of tongue, Metaphysea... |
OMIM:613091 |
| Premature Aging Syndrome, Okamoto Type |
|
Diabetes mellitus, Neoplasm, Osteoporosis, Osteosarcoma |
OMIM:601811 |
| Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects |
|
Aplasia of the distal phalanx of the 2nd finger, 2-5 finger syndactyly, Syndactyly, Congenital hi... |
OMIM:308050 |
| Rabson-Mendenhall Syndrome |
|
Reduced subcutaneous adipose tissue, Impaired glucose tolerance, Insulin resistance, Fasting hype... |
ORPHA:769 |
| Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
Syndactyly, Brachydactyly, Hypoplastic scapulae, Bowing of the long bones, Micromelia, Postaxial ... |
OMIM:614091 |
| Lenz-Majewski Hyperostotic Dwarfism |
|
Finger syndactyly, Increased bone mineral density, Inguinal hernia, Femoral hernia, Facial palsy,... |
ORPHA:2658 |
| Omodysplasia 2 |
|
Short humerus, Fibular hypoplasia, Hypoplastic distal humeri, Limited elbow flexion/extension, Rh... |
OMIM:164745 |
| Suleiman-El-Hattab Syndrome |
|
Inguinal hernia, Single transverse palmar crease, Polydactyly, Clinodactyly, Failure to thrive, B... |
OMIM:618950 |
| Meckel Syndrome, Type 11 |
|
Polydactyly |
OMIM:615397 |
| Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin |
|
Persistence of hemoglobin F, Self-injurious behavior, Recurrent hand flapping |
OMIM:617101 |
| Congenital Disorder Of Glycosylation, Type Ig |
|
Short humerus, Short femur, Rhizomelia, Sandal gap, Hypoglycemia, Small for gestational age, Hypo... |
OMIM:607143 |
| Bardet-Biedl Syndrome 3 |
|
Obesity, Postaxial polydactyly, Brachydactyly |
OMIM:600151 |
| Acrodysostosis 1 With Or Without Hormone Resistance |
|
Short metacarpal, Brachydactyly, Small for gestational age, Neonatal epiphyseal stippling, Short ... |
OMIM:101800 |
| Orofaciodigital Syndrome Vi |
|
Brachydactyly, Toe syndactyly, Short femur, Mesoaxial hand polydactyly, Postaxial polydactyly, Ha... |
OMIM:277170 |
| Camptobrachydactyly |
|
Syndactyly, Short toe, Hand polydactyly, Congenital finger flexion contractures, Brachydactyly |
OMIM:114150 |
| Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Omphalocele, Syndactyly, Micromelia, Postaxial polydactyly, Hypoplastic ilia, Hypoplasia of the r... |
OMIM:617895 |
| Bloom Syndrome |
|
Syndactyly, Small for gestational age, Elevated hemoglobin A1c, Lymphoma, Squamous cell carcinoma... |
OMIM:210900 |
| Chromosome 17P13.3, Telomeric, Duplication Syndrome |
|
Contracture of the proximal interphalangeal joint of the 3rd finger, Short metacarpal, Brachydact... |
OMIM:612576 |
| Duane-Radial Ray Syndrome |
|
Syndactyly, Hypoplasia of the ulna, Radial deviation of the hand, Sandal gap, Short humerus, Faci... |
OMIM:607323 |
| Oculodentodigital Dysplasia |
|
4-5 finger syndactyly, Enamel hypoplasia, Hip dislocation, Joint contracture of the 5th finger, S... |
OMIM:164200 |
| Otopalatodigital Syndrome Type 2 |
|
Omphalocele, Bowing of the long bones, Increased bone mineral density, Tarsal synostosis, Short h... |
ORPHA:90652 |
| Atelosteogenesis, Type I |
|
Short humerus, Short metacarpal, Radial bowing, Club-shaped proximal femur, Rhizomelia, Short fem... |
OMIM:108720 |
| Retinitis Pigmentosa 51 |
|
Polydactyly, Obesity |
OMIM:613464 |
| Adams-Oliver Syndrome 5 |
|
Syndactyly, Inguinal hernia, Hypersplenism, Splenomegaly, Cavernous hemangioma, Right ventricular... |
OMIM:616028 |
| Acro-Renal-Ocular Syndrome |
|
Hypoplasia of the ulna, Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Abnormal morphol... |
ORPHA:959 |
| Tibia, Hypoplasia Or Aplasia Of, With Polydactyly |
|
Short tibia, Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication |
OMIM:188740 |
| Meckel Syndrome, Type 10 |
|
Ulnar deviation of the hand, Postaxial polydactyly, Postaxial hand polydactyly, Postaxial foot po... |
OMIM:614175 |
| Trochlea Of The Humerus, Aplasia Of |
|
Short humerus |
OMIM:191000 |
| Autosomal Dominant Omodysplasia |
|
Short humerus, Rhizomelia, Elbow dislocation, Short palm, Short 1st metacarpal |
ORPHA:93328 |
| Joubert Syndrome 23 |
|
Polydactyly |
OMIM:616490 |
| Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Single transverse palmar crease, Micromelia, Delayed epiphyseal ossification, Flexion contracture... |
OMIM:210710 |
| Pallister-Hall Syndrome |
|
Large for gestational age, Paroxysmal bursts of laughter, Mesoaxial polydactyly, Radial bowing, M... |
ORPHA:672 |
| Khan-Khan-Katsanis Syndrome |
|
Failure to thrive, Postaxial polydactyly, Dysphagia, Corneal scarring, Joint contracture, Neutrop... |
OMIM:618460 |
| Adnp Syndrome |
|
Inguinal hernia, Broad hallux, Sandal gap, Single transverse palmar crease, Oral-pharyngeal dysph... |
ORPHA:404448 |
| Tolchin-Le Caignec Syndrome |
|
Osteochondroma, Arachnodactyly, Diastasis recti, Cardiac rhabdomyoma, Attention deficit hyperacti... |
OMIM:618971 |
| Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly |
|
Short long bone, Polydactyly, Brachydactyly |
OMIM:613819 |
| Joubert Syndrome 16 |
|
Polydactyly |
OMIM:614465 |
| Joubert Syndrome 27 |
|
Polydactyly |
OMIM:617120 |
| Acquired Methemoglobinemia |
|
Methemoglobinemia |
ORPHA:464453 |
| Pseudoaminopterin Syndrome |
|
Posterolateral diaphragmatic hernia, Brachydactyly, Inguinal hernia, Overlapping toe, Single tran... |
ORPHA:221120 |
| Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Methylmalonic acidemia, Short humerus, Skeletal muscle atrophy, Short femur, Hypoglycemia, Aggres... |
ORPHA:17 |
| Methemoglobinemia And Ambiguous Genitalia |
|
Methemoglobinemia |
OMIM:250790 |
| Alpha-Mannosidosis, Infantile Form |
|
Osteopenia, Pancytopenia, Facial hypotonia, Craniosynostosis, Cranial hyperostosis, Osteolysis, G... |
ORPHA:309282 |
| Alstrom Syndrome |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Abnormality of the hand, Insulin-r... |
OMIM:203800 |
| Chondrodysplasia Punctata 2, X-Linked Dominant |
|
Rhizomelia, Postaxial polydactyly, Elevated 8-dehydrocholesterol, Elevated 8(9)-cholestenol, Epip... |
OMIM:302960 |
| Bardet-Biedl Syndrome 1 |
|
Syndactyly, Diabetes mellitus, Postaxial polydactyly, Postaxial hand polydactyly, Insulin resista... |
OMIM:209900 |
| Spondylocarpotarsal Synostosis Syndrome |
|
Carpal synostosis, Epiphyseal dysplasia, Short metacarpal, Scapular winging, Bowed humerus, Tarsa... |
OMIM:272460 |
| Basal Cell Nevus Syndrome 1 |
|
Odontogenic keratocysts of the jaw, Ovarian fibroma, Rhabdomyoma, Down-sloping shoulders, Palmar ... |
OMIM:109400 |
| Meckel Syndrome, Type 8 |
|
Polydactyly, Talipes equinovarus |
OMIM:613885 |
| Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly |
|
Syndactyly, Postaxial polydactyly, Preaxial polydactyly, Femoral bowing, Short long bone, Acetabu... |
OMIM:615503 |
| Choanal Atresia |
|
Polydactyly, Craniosynostosis, Choking episodes |
ORPHA:137914 |
| Meckel Syndrome, Type 2 |
|
Omphalocele, Bowing of the long bones, Polydactyly, Postaxial hand polydactyly |
OMIM:603194 |
| Hyperostosis Cranialis Interna |
|
Calvarial hyperostosis, Facial palsy, Osteosclerosis of the base of the skull, Hyperostosis crani... |
OMIM:144755 |
| Monosomy 9Q22.3 |
|
Odontogenic keratocysts of the jaw, Ovarian fibroma, Hyperactivity, Rhabdomyosarcoma, Large for g... |
ORPHA:77301 |
| Trichorhinophalangeal Syndrome, Type Ii |
|
Osteochondroma, Syndactyly, Short metacarpal, Scapular winging, Osteopenia, Single transverse pal... |
OMIM:150230 |
| Cono-Spondylar Dysplasia |
|
Epiphyseal dysplasia, Short humerus, Cone-shaped epiphyses of the phalanges of the hand, Short 4t... |
ORPHA:420794 |
| Orofaciodigital Syndrome Type 6 |
|
Syndactyly, Mesoaxial polydactyly, Hamartoma of tongue, Central Y-shaped metacarpal, Preaxial pol... |
ORPHA:2754 |
| Ulnar-Mammary Syndrome |
|
Deformed radius, Aplasia of the 3rd metacarpal, Aplasia of the 4th metacarpal, Aplasia of the 4th... |
OMIM:181450 |
| Degcags Syndrome |
|
Osteopenia, Oral-pharyngeal dysphagia, Leukopenia, Iron deficiency anemia, Diaphragmatic eventrat... |
OMIM:619488 |
| Cranioectodermal Dysplasia 1 |
|
Broad toe, Brachydactyly, Short humerus, Rhizomelia, Single transverse palmar crease, Broad dista... |
OMIM:218330 |
| 9Q21.13 Microdeletion Syndrome |
|
Hip dysplasia, Polydactyly, Craniosynostosis |
ORPHA:531151 |
| Occipital Horn Syndrome |
|
Short humerus, Decreased circulating ceruloplasmin concentration, Decreased circulating copper co... |
OMIM:304150 |
| Meckel Syndrome, Type 3 |
|
Postaxial foot polydactyly, Postaxial hand polydactyly, Polydactyly |
OMIM:607361 |
| Septooptic Dysplasia |
|
Polydactyly, Short finger |
OMIM:182230 |
| Codas Syndrome |
|
Omphalocele, Short humerus, Short metacarpal, Congenital hip dislocation, Metaphyseal dysplasia, ... |
OMIM:600373 |
| Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Omphalocele, Rhizomelia, Postaxial polydactyly, Hamartoma of tongue, Squared iliac bones, Preaxia... |
OMIM:616300 |
| Joubert Syndrome 17 |
|
Preaxial polydactyly, Postaxial polydactyly, 3-4 finger syndactyly |
OMIM:614615 |
| Endocrine-Cerebroosteodysplasia |
|
Syndactyly, Bowed forearm bones, Ulnar deviation of the hand, Sandal gap, Single transverse palma... |
OMIM:612651 |
| Baller-Gerold Syndrome |
|
Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Failure to thrive in infancy, Aplasia/... |
ORPHA:1225 |
| Melnick-Needles Syndrome |
|
Omphalocele, Short humerus, Hypoplastic scapulae, Coxa valga, Flared metaphysis, Hip dislocation,... |
OMIM:309350 |
| Rubinstein-Taybi Syndrome 1 |
|
Single transverse palmar crease, Flexion contracture, Papillary cystadenoma of the epididymis, Ne... |
OMIM:180849 |
| Acromelic Frontonasal Dysostosis |
|
Tubulonodular pericallosal lipoma, Syndactyly, Preaxial polydactyly, Preaxial foot polydactyly, P... |
OMIM:603671 |
| Atelosteogenesis Type Iii |
|
Absent humerus, Ulnar deviation of the wrist, Epiphyseal stippling of the humerus, Short tubular ... |
ORPHA:56305 |
| Kinsship Syndrome |
|
Osteopenia, Single transverse palmar crease, Coxa valga, Hip dislocation, Bruxism, Fibular hypopl... |
OMIM:619297 |
| Tarp Syndrome |
|
Finger syndactyly, Extramedullary hematopoiesis, Rocker bottom foot, Postaxial polydactyly, Singl... |
ORPHA:2886 |
| Helsmoortel-Van Der Aa Syndrome |
|
Short 4th toe, Compulsive behaviors, Clinodactyly of the 5th finger, Prominent fingertip pads, Ab... |
OMIM:615873 |
| Bardet-Biedl Syndrome 20 |
|
Postaxial polydactyly, Postaxial hand polydactyly, Preaxial foot polydactyly, 2-3 toe syndactyly,... |
OMIM:619471 |
| Congenital Sialidosis Type 2 |
|
Umbilical hernia, Inguinal hernia, Polydactyly, Hepatosplenomegaly |
ORPHA:93400 |
| Short-Rib Thoracic Dysplasia 21 Without Polydactyly |
|
Short humerus, Trident pelvis, Bowed humerus, Flexion contracture, Short long bone, Brachydactyly |
OMIM:619479 |
| Rhombencephalosynapsis |
|
Finger syndactyly, Short phalanx of finger, Polydactyly, Complete duplication of thumb phalanx |
ORPHA:59315 |
| Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Absent radius, Short humerus, Hand polydactyly, Proximal placement of thumb |
OMIM:314390 |
| Meckel Syndrome 14 |
|
Syndactyly, Bowing of the long bones, Postaxial polydactyly, Postaxial hand polydactyly, Postaxia... |
OMIM:619879 |
| Miller-Dieker Lissencephaly Syndrome |
|
Omphalocele, Inguinal hernia, Failure to thrive, Single transverse palmar crease, Deep palmar cre... |
OMIM:247200 |
| Femoral-Facial Syndrome |
|
Short third metatarsal, Short humerus, Short fourth metatarsal, Toe syndactyly, Short fifth metat... |
OMIM:134780 |
| Cranioectodermal Dysplasia 3 |
|
Rhizomelia, Sandal gap, Postaxial polydactyly, Sagittal craniosynostosis, 2-4 toe syndactyly, 2-3... |
OMIM:614099 |
| Dyrk1A-Related Intellectual Disability Syndrome |
|
Hallux valgus, Hyperactivity, Toe syndactyly, Arachnodactyly, Multiple joint contractures, Small ... |
ORPHA:464306 |
| Catel-Manzke Syndrome |
|
Short humerus, Short metacarpal, Short femur, Inguinal hernia, Single transverse palmar crease, S... |
OMIM:616145 |
| Cranioectodermal Dysplasia 2 |
|
Syndactyly, Inguinal hernia, Rhizomelia, Craniosynostosis, Splenomegaly, Postaxial hand polydacty... |
OMIM:613610 |
| Rothmund-Thomson Syndrome, Type 2 |
|
Congenital hip dislocation, Small for gestational age, Short thumb, Small hand, Osteoporosis, Squ... |
OMIM:268400 |
| Wiedemann-Rautenstrauch Syndrome |
|
Long toe, Short humerus, Reduced subcutaneous adipose tissue, Hypertriglyceridemia, Short femur, ... |
OMIM:264090 |
| Bardet-Biedl Syndrome 12 |
|
Postaxial foot polydactyly, Postaxial hand polydactyly, Polydactyly, Obesity |
OMIM:615989 |
| Meckel Syndrome, Type 1 |
|
Accessory spleen, Syndactyly, Bowing of the long bones, Omphalocele, Camptodactyly of finger, Pos... |
OMIM:249000 |
| Faciocardiomelic Syndrome |
|
Osteopenia, Large for gestational age, Slender long bone, Polydactyly, Hypoplastic pelvis, Thin b... |
OMIM:612731 |
| Carpenter Syndrome 2 |
|
Short digit, Single transverse palmar crease, Postaxial polydactyly, Craniosynostosis, Preaxial p... |
OMIM:614976 |
| Mend Syndrome |
|
Hyperactivity, Overlapping toe, Broad hallux, Long fingers, 2-3 toe syndactyly, Polydactyly, Over... |
OMIM:300960 |
| Roberts-Sc Phocomelia Syndrome |
|
Tetraphocomelia, Knee flexion contracture, Midface capillary hemangioma, Phocomelia, Wrist flexio... |
OMIM:268300 |
| Baller-Gerold Syndrome |
|
Limited elbow movement, Patellar hypoplasia, Midface capillary hemangioma, Hypoplasia of the ulna... |
OMIM:218600 |
| Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Compulsive behaviors, Abnormal repetitive mannerisms, Syndactyly, Hyperactivity, Broad hallux, Pi... |
ORPHA:353284 |
| Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Compulsive behaviors, Abnormal repetitive mannerisms, Syndactyly, Hyperactivity, Broad hallux, Pi... |
ORPHA:353277 |
| Omodysplasia 1 |
|
Short humerus, Rhizomelia, Increased fibular diameter, Limited elbow extension, Fibular hypoplasi... |
OMIM:258315 |
| Orofaciodigital Syndrome I |
|
Syndactyly, Hamartoma of tongue, Short 2nd toe, Polydactyly, Radial deviation of finger, Hypothal... |
OMIM:311200 |
| Retinoblastoma |
|
Glioma, Rhabdomyosarcoma, Lymphoma, Pineoblastoma, Leiomyosarcoma, Melanoma, Cellulitis, Retinobl... |
ORPHA:790 |
| Wiedemann-Rautenstrauch Syndrome |
|
Osteopenia, Loss of facial adipose tissue, Long toe, 2-3 toe syndactyly, Limb hypertonia, Short f... |
ORPHA:3455 |
| Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Congenital diaphragmatic hernia, Narrow greater sciatic notch, Short palm, Hepatoblastoma, Short ... |
OMIM:312870 |
| Joubert Syndrome 39 |
|
Overweight, Joint contracture of the 5th finger, Postaxial polydactyly |
OMIM:619562 |
| Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
|
Hallux valgus, Inguinal hernia, Small for gestational age, Failure to thrive in infancy, Tapered ... |
ORPHA:268261 |
| Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion |
|
Polydactyly |
ORPHA:314655 |
| Senior-Loken Syndrome 8 |
|
Polydactyly |
OMIM:616307 |
| Ectodermal Dysplasia With Natal Teeth, Turnpenny Type |
|
Cranial hyperostosis |
OMIM:601345 |
| Short-Rib Thoracic Dysplasia 15 With Polydactyly |
|
Postaxial polydactyly, Splenomegaly, Postaxial hand polydactyly, Cone-shaped epiphysis, Short lon... |
OMIM:617088 |
| Mullegama-Klein-Martinez Syndrome |
|
Facial palsy, Congenital diaphragmatic hernia, Polydactyly, Attention deficit hyperactivity disor... |
OMIM:301022 |
| Retinitis Pigmentosa 74 |
|
Polydactyly, Obesity |
OMIM:616562 |
| Loeys-Dietz Syndrome 2 |
|
Syndactyly, Inguinal hernia, Arachnodactyly, Protrusio acetabuli, Postaxial polydactyly, Craniosy... |
OMIM:610168 |
| Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination |
|
Short humerus, Short femur, Dysphagia, Tapered finger |
OMIM:618367 |
| Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Osteopenia, Syndactyly, Inguinal hernia, Postaxial polydactyly, Conjugated hyperbilirubinemia, In... |
OMIM:619534 |
| Ulbright-Hodes Syndrome |
|
Short humerus, Short metacarpal, Maternal diabetes, Humeroradial synostosis, Hypoplasia of the ra... |
ORPHA:3404 |
| Cerebrocostomandibular Syndrome |
|
Short humerus, Congenital hip dislocation, Calcaneal epiphyseal stippling, Elbow flexion contract... |
OMIM:117650 |
| Retinoblastoma |
|
Lymphoma, Retinoblastoma, Leukemia, Ewing sarcoma, Pinealoma, Osteosarcoma |
OMIM:180200 |
| Microphthalmia, Syndromic 6 |
|
Finger syndactyly, Thumb contracture, Toe syndactyly, Single transverse palmar crease, Abnormalit... |
OMIM:607932 |
| Lacrimoauriculodentodigital Syndrome 1 |
|
Hypoplasia of the ulna, Broad hallux, Absent radius, Short thumb, Partial duplication of thumb ph... |
OMIM:149730 |
| Combined Pituitary Hormone Deficiencies, Genetic Forms |
|
Osteopenia, Hypoglycemia, Polydactyly, Osteoporosis of vertebrae, Abnormal digit morphology |
ORPHA:95494 |
| Neurocardiofaciodigital Syndrome |
|
Small for gestational age, Syndactyly, Failure to thrive, Polydactyly |
OMIM:619869 |
| Okamoto Syndrome |
|
Omphalocele, Splenomegaly, Hip dysplasia, Polydactyly |
ORPHA:2729 |
| Alström Syndrome |
|
Hypertriglyceridemia, Dorsocervical fat pad, Splenomegaly, Short toe, Hyperlipidemia, Insulin res... |
ORPHA:64 |
