| Superior Transverse Scapular Ligament, Calcification Of, Familial |
|
Ectopic ossification in ligament tissue |
OMIM:601708 |
| Cystic Angiomatosis Of Bone, Diffuse |
|
Cystic angiomatosis of bone |
OMIM:123880 |
| Muscle Cramps, Familial |
|
Elevated circulating creatine kinase concentration |
OMIM:158400 |
| Cramps, Familial Adolescent |
|
Elevated circulating creatine kinase concentration |
OMIM:218050 |
| Pentosuria |
|
Abnormal circulating carbohydrate concentration, Abnormality of circulating enzyme level |
ORPHA:2843 |
| Osteoporosis |
|
Osteoporosis |
OMIM:166710 |
| Aneurysm, Intracranial Berry, 12 |
|
Internal carotid artery dissection, Subarachnoid hemorrhage, Fusiform cerebral aneurysm, Arterial... |
OMIM:618734 |
| Hypomagnesemia 1, Intestinal |
|
Hypocalcemia, Hypomagnesemia |
OMIM:602014 |
| Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia |
|
Increased bone mineral density |
OMIM:250500 |
| 12q14 microdeletion syndrome |
|
Osteopoikilosis |
DECIPHER:76 |
| Hypomagnesemia 4, Renal |
|
Hypomagnesemia |
OMIM:611718 |
| Pyknoachondrogenesis |
|
Increased bone mineral density |
OMIM:265880 |
| Melorheostosis, Isolated |
|
Hyperostosis, Increased bone mineral density |
OMIM:155950 |
| Afibrinogenemia, Congenital |
|
Abnormal bleeding, Death in infancy, Epidural hemorrhage, Epistaxis, Hematemesis, Prolonged bleed... |
OMIM:202400 |
| Lethal Congenital Contracture Syndrome 3 |
|
Neonatal death, Arthrogryposis multiplex congenita, Multiple joint contractures |
OMIM:611369 |
| Internal Carotid Absence |
|
Dilatation of the cerebral artery, Cerebral ischemia, Subarachnoid hemorrhage |
ORPHA:981 |
| Aneurysm, Intracranial Berry, 1 |
|
Intracranial hemorrhage, Dilatation of the cerebral artery |
OMIM:105800 |
| Granulomas, Congenital Cerebral |
|
Neonatal death |
OMIM:306300 |
| Genitourinary Tract Anomalies |
|
Neonatal death |
OMIM:305690 |
| Aneurysm, Intracranial Berry, 2 |
|
Subarachnoid hemorrhage, Cerebral berry aneurysm |
OMIM:608542 |
| Osteomesopyknosis |
|
Increased bone mineral density |
OMIM:166450 |
| Isolated Asymptomatic Elevation Of Creatine Phosphokinase |
|
Elevated creatine kinase after exercise, Elevated circulating creatine kinase concentration |
ORPHA:206599 |
| Osteopoikilosis And Dacryocystitis |
|
Osteopoikilosis |
OMIM:166705 |
| Hypomagnesemia, Seizures, And Impaired Intellectual Development 1 |
|
Hypomagnesemia |
OMIM:616418 |
| Hypomagnesemia 6, Renal |
|
Hypomagnesemia |
OMIM:613882 |
| Hypocalciuric Hypercalcemia, Familial, Type Iii |
|
Osteomalacia, Hypermagnesemia, Hypercalcemia, Hypophosphatemia |
OMIM:600740 |
| Uremic Pruritus |
|
Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia, Increased blood urea nitrogen |
ORPHA:94059 |
| Hypocalciuric Hypercalcemia, Familial, Type I |
|
Hypermagnesemia, Hypercalcemia |
OMIM:145980 |
| Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland |
|
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures, Hypomagnesemia |
ORPHA:2239 |
| Hypocalcemia, Autosomal Dominant 1 |
|
Hypokalemia, Hyperphosphatemia, Increased circulating renin level, Hypocalcemia, Hypomagnesemia |
OMIM:601198 |
| Hypocalciuric Hypercalcemia, Familial, Type Ii |
|
Hypermagnesemia, Hypercalcemia |
OMIM:145981 |
| Cerebral Cavernous Malformations |
|
Intracranial hemorrhage, Cerebral cavernous malformation |
OMIM:116860 |
| Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy |
|
Hyponatremia, Hypokalemia, Hypocalcemia, Hypomagnesemia |
OMIM:620152 |
| Vacuolar Myopathy With Sarcoplasmic Reticulum Protein Aggregates |
|
Elevated circulating creatine kinase concentration |
ORPHA:88635 |
| Osteoporosis, Juvenile |
|
Osteoporosis |
OMIM:259750 |
| Cerebral Amyloid Angiopathy, Cst3-Related |
|
Intracranial hemorrhage, Stroke, Cerebral hemorrhage |
OMIM:105150 |
| Cardiomyopathy, Dilated, 2G |
|
Aortic regurgitation, Tachycardia, Tricuspid regurgitation, Cerebral hemorrhage, Dilated cardiomy... |
OMIM:619897 |
| Familial Afibrinogenemia |
|
Abnormal bleeding, Miscarriage, Epistaxis, Cerebral hemorrhage, Gingival bleeding |
ORPHA:98880 |
| Cerebral Cavernous Malformations 2 |
|
Cerebral cavernous malformation, Stroke, Cerebral hemorrhage, Telangiectasia |
OMIM:603284 |
| Familial Cervical Artery Dissection |
|
Carotid artery dissection, Transient ischemic attack, Subarachnoid hemorrhage, Recurrent cerebral... |
ORPHA:36382 |
| Primary Hypomagnesemia-Refractory Seizures-Intellectual Disability Syndrome |
|
Episodic hypokalemia, Hypomagnesemia |
ORPHA:564178 |
| Congenital Factor V Deficiency |
|
Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after surgery, Joint hemorrhage, Prolo... |
ORPHA:326 |
| Abetal34V Amyloidosis |
|
Abnormal cerebral vascular morphology, Stroke, Cerebral hemorrhage |
ORPHA:324703 |
| Moderate Hemophilia A |
|
Abnormal bleeding, Hip contracture, Epidural hemorrhage, Gastrointestinal hemorrhage, Prolonged b... |
ORPHA:169805 |
| Factor Xiii, A Subunit, Deficiency Of |
|
Abnormal bleeding, Epistaxis, Intracranial hemorrhage, Spontaneous hematomas, Abnormal umbilical ... |
OMIM:613225 |
| Familial Hypocalciuric Hypercalcemia |
|
Renal hypophosphatemia, Osteomalacia, Hypercalcemia, Hypermagnesemia, Hypocalcemic seizures |
ORPHA:405 |
| Circumvallate Placenta Syndrome |
|
Intracranial hemorrhage |
OMIM:215550 |
| Reversible Cerebral Vasoconstriction Syndrome |
|
Abnormal bleeding, Carotid artery dissection, Transient ischemic attack, Cerebral hemorrhage, Sub... |
ORPHA:284388 |
| Severe Hemophilia A |
|
Gastrointestinal hemorrhage, Epidural hemorrhage, Limb joint contracture, Epistaxis, Prolonged bl... |
ORPHA:169802 |
| Factor Vii Deficiency |
|
Abnormal bleeding, Epistaxis, Joint hemorrhage, Intracranial hemorrhage, Menorrhagia, Bruising su... |
OMIM:227500 |
| Gnathodiaphyseal Dysplasia |
|
Osteopenia, Osteomyelitis, Diaphyseal cortical sclerosis, Increased susceptibility to fractures |
OMIM:166260 |
| Refractory Celiac Disease |
|
Hypomagnesemia, Osteoporosis, Hypoalbuminemia, Hypocalcemia, Hypophosphatemia, Hypoproteinemia |
ORPHA:398063 |
| Congenital Factor Ii Deficiency |
|
Abnormal bleeding, Prolonged bleeding after dental extraction, Epistaxis, Prolonged bleeding foll... |
ORPHA:325 |
| Familial Cerebral Saccular Aneurysm |
|
Transient ischemic attack, Cerebral berry aneurysm, Subarachnoid hemorrhage, Intracranial hemorrh... |
ORPHA:231160 |
| Helix Syndrome |
|
Hypokalemia, Hypermagnesemia |
OMIM:617671 |
| Glanzmann Thrombasthenia 1 |
|
Gastrointestinal hemorrhage, Prolonged bleeding time, Epistaxis, Subdural hemorrhage, Intracrania... |
OMIM:273800 |
| Osseous Heteroplasia, Progressive |
|
Limb undergrowth |
OMIM:166350 |
| Congenital Plasminogen Activator Inhibitor Type 1 Deficiency |
|
Gastrointestinal hemorrhage, Epidural hemorrhage, Miscarriage, Prolonged bleeding after dental ex... |
ORPHA:465 |
| Hereditary Fructose Intolerance |
|
Hypermagnesemia, Hyperuricemia, Hypophosphatemia |
ORPHA:469 |
| Dacryocystitis-Osteopoikilosis Syndrome |
|
Increased bone mineral density, Osteopoikilosis |
ORPHA:1562 |
| Congenital Factor Vii Deficiency |
|
Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after surgery, Post-partum hemorrhage,... |
ORPHA:327 |
| Greenberg Dysplasia |
|
Micromelia, Micrognathia, Polyhydramnios, Hydrops fetalis, Tetraphocomelia, Hypoplastic vertebral... |
OMIM:215140 |
| Kenny-Caffey Syndrome, Type 1 |
|
Decreased skull ossification, Calvarial osteosclerosis, Hypocalcemia, Hypomagnesemia |
OMIM:244460 |
| Immune Thrombocytopenia |
|
Gastrointestinal hemorrhage, Epistaxis, Cerebral hemorrhage, Gingival bleeding, Bruising suscepti... |
ORPHA:3002 |
| Cerebral Cavernous Malformations 3 |
|
Cerebral cavernous malformation, Cerebral hemorrhage |
OMIM:603285 |
| Short-Rib Thoracic Dysplasia 2 With Or Without Polydactyly |
|
Short metacarpal, Rhizomelia, Postaxial hand polydactyly, Short foot, Mesomelia, Brachydactyly |
OMIM:611263 |
| Congenital Factor Xiii Deficiency |
|
Epistaxis, Cerebral hemorrhage, Joint hemorrhage, Prolonged bleeding after surgery, Post-partum h... |
ORPHA:331 |
| Hypophosphatemic Rickets, Autosomal Recessive, 1 |
|
Increased bone mineral density, Craniosynostosis, Rickets, Hypophosphatemia, Hypophosphatemic ric... |
OMIM:241520 |
| Abeta Amyloidosis, Iowa Type |
|
Abnormal cerebral vascular morphology, Stroke, Cerebral hemorrhage |
ORPHA:324708 |
| Hemophilia A |
|
Gastrointestinal hemorrhage, Intraventricular hemorrhage, Intracranial hemorrhage, Spontaneous he... |
ORPHA:98878 |
| Meckel Syndrome, Type 9 |
|
Limb undergrowth, Occipital encephalocele, Sonographic non-visualized fetal bladder, Talipes equi... |
OMIM:614209 |
| Hypomagnesemia 2, Renal |
|
Hypokalemia, Hypomagnesemia |
OMIM:154020 |
| Fetal Gaucher Disease |
|
Death in infancy, Flexion contracture, Intracranial hemorrhage, Stillbirth, Neonatal death, Arthr... |
ORPHA:85212 |
| Abeta Amyloidosis, Italian Type |
|
Stroke, Cerebral hemorrhage |
ORPHA:324713 |
| Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation |
|
Large placenta, Umbilical hernia, Polyhydramnios |
ORPHA:254534 |
| Hypomagnesemia, Seizures, And Impaired Intellectual Development 2 |
|
Hypokalemia, Hypomagnesemia |
OMIM:618314 |
| Factor X Deficiency |
|
Epistaxis, Prolonged bleeding after surgery, Intracranial hemorrhage, Prolonged prothrombin time,... |
OMIM:227600 |
| Van Buchem Disease |
|
Increased bone mineral density, Cranial hyperostosis, Thickened cortex of long bones |
OMIM:239100 |
| Mitochondrial Complex I Deficiency, Nuclear Type 30 |
|
Neonatal death, Congestive heart failure, Intrauterine growth retardation |
OMIM:301021 |
| Mesomelic Limb Shortening And Bowing |
|
Camptodactyly of finger, Micrognathia, Bowing of the legs, Mesomelic arm shortening, Mesomelic le... |
OMIM:249710 |
| Congenital Alpha2-Antiplasmin Deficiency |
|
Abnormal bleeding, Intracranial hemorrhage, Abnormal umbilical stump bleeding, Gingival bleeding,... |
ORPHA:79 |
| Neurodevelopmental Disorder With Language Delay And Seizures |
|
Hypomagnesemia |
OMIM:619908 |
| Fetal And Neonatal Alloimmune Thrombocytopenia |
|
Abnormal bleeding, Gastrointestinal hemorrhage, Subarachnoid hemorrhage, Cephalohematoma, Intracr... |
ORPHA:853 |
| Dural Sinus Malformation |
|
Cerebral hemorrhage, Subarachnoid hemorrhage, Myelopathy, Cerebellar hemorrhage, Hydrocephalus, S... |
ORPHA:97339 |
| Combined Deficiency Of Factor V And Factor Viii |
|
Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after surgery, Joint hemorrhage, Prolo... |
ORPHA:35909 |
| Congenital Factor X Deficiency |
|
Gastrointestinal hemorrhage, Epistaxis, Subarachnoid hemorrhage, Joint hemorrhage, Prolonged blee... |
ORPHA:328 |
| Hemophilia B |
|
Prolonged bleeding time, Spontaneous, recurrent epistaxis, Joint hemorrhage, Prolonged bleeding a... |
ORPHA:98879 |
| Cerebral Autosomal Dominant Arteriopathy-Subcortical Infarcts-Leukoencephalopathy |
|
Transient ischemic attack, Cerebral hemorrhage, Arterial stenosis, Intracranial hemorrhage, Hyper... |
ORPHA:136 |
| East Syndrome |
|
Hypokalemia, Increased circulating renin level, Hypomagnesemia |
ORPHA:199343 |
| Xeroderma Pigmentosum, Complementation Group G |
|
Defective DNA repair after ultraviolet radiation damage |
OMIM:278780 |
| Adamantinoma |
|
Pathologic fracture, Hypercalcemia |
ORPHA:55881 |
| Cerebral Amyloid Angiopathy, App-Related |
|
Tortuous cerebral arteries, Subarachnoid hemorrhage, Cerebellar hemorrhage, Recurrent cerebral he... |
OMIM:605714 |
| Hypokalemic Alkalosis, Familial, With Specific Renal Tubulopathy |
|
Hypokalemia, Increased serum prostaglandin E2, Increased circulating renin level, Abnormal magnes... |
OMIM:241150 |
| Metaphyseal Anadysplasia 2 |
|
Micromelia, Bowing of the legs, Metaphyseal widening, Short femoral neck, Metaphyseal irregularit... |
OMIM:613073 |
| Thrombophilia Due To Protein S Deficiency, Autosomal Recessive |
|
Purpura, Cerebral hemorrhage, Pulmonary embolism |
OMIM:614514 |
| Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency |
|
Hypomagnesemia, Abnormal circulating neopterin concentration, Abnormal circulating biopterin conc... |
ORPHA:1578 |
| Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion |
|
Long toe, Overlapping toe, Polyhydramnios, Large placenta, Camptodactyly, Umbilical hernia, Flexi... |
ORPHA:254528 |
| Menkes Disease |
|
Joint laxity, Osteoporosis, Intracranial hemorrhage, Death in childhood, Intrauterine growth reta... |
OMIM:309400 |
| Stuve-Wiedemann Syndrome 2 |
|
Congestive heart failure, Death in adolescence, Stillbirth, Camptodactyly, Neonatal death, Pulmon... |
OMIM:619751 |
| Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Hyponatremia, Increased blood urea nitrogen, Hyperuricemia, Hypomagnesemia |
OMIM:613845 |
| Orthostatic Hypotension 1 |
|
Hypomagnesemia, Joint hypermobility, Increased blood urea nitrogen |
OMIM:223360 |
| Combined Oxidative Phosphorylation Deficiency 55 |
|
Elevated circulating creatine kinase concentration, Hypomagnesemia, Hypophosphatemia, Hypophospha... |
OMIM:619743 |
| Axial Osteomalacia |
|
Increased bone mineral density, Osteomalacia, Elevated circulating creatine kinase concentration |
OMIM:109130 |
| Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome |
|
Cerebral hemorrhage, Dilated cardiomyopathy, Hypertension, Ischemic stroke, Retrognathia, Coronar... |
ORPHA:280679 |
| Gitelman Syndrome |
|
Hypermagnesemia, Gout, Hypokalemia, Hypocalcemia, Hypomagnesemia |
ORPHA:358 |
| Sneddon Syndrome |
|
Intracranial hemorrhage, Hypertension, Arterial stenosis |
ORPHA:820 |
| Acromesomelic Dysplasia 2A |
|
Hypoplasia of the ulna, Short humerus, Short femur, Aplasia/Hypoplasia of the patella, Postaxial ... |
OMIM:200700 |
| Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Hypokalemia, Hypocalcemia, Hypomagnesemia |
OMIM:175500 |
| Achondrogenesis, Type Ib |
|
Polyhydramnios, Micromelia, Breech presentation, Hydrops fetalis, Stillbirth, Short ribs, Umbilic... |
OMIM:600972 |
| Brain Small Vessel Disease 2 |
|
Intracranial hemorrhage |
OMIM:614483 |
| Snakebite Envenomation |
|
Abnormal bleeding, Tachycardia, Epistaxis, Myocardial infarction, Cardiogenic shock, Intracranial... |
ORPHA:449285 |
| Pulmonary Hypoplasia, Primary |
|
Neonatal death |
OMIM:265430 |
| Mosaic Trisomy 16 |
|
Syndactyly, Premature birth, Large placenta, Short thumb, Single umbilical artery, Short femoral ... |
ORPHA:1708 |
| Erythrocyte Lactate Transporter Defect |
|
Elevated circulating creatine kinase concentration |
OMIM:245340 |
| Chondrodysplasia, Blomstrand Type |
|
Premature birth, Micromelia, Micrognathia, Polyhydramnios, Fetal ascites, Flared metaphysis, Adva... |
OMIM:215045 |
| Placental Insufficiency |
|
Abnormal placenta morphology, Abnormal umbilical cord blood vessel morphology, Small placenta, In... |
ORPHA:439167 |
| Lethal Congenital Contracture Syndrome 5 |
|
Death in infancy, Flexion contracture, Subdural hemorrhage, Retinal hemorrhage, Congenital contra... |
OMIM:615368 |
| Acquired Von Willebrand Syndrome |
|
Aortic regurgitation, Gastrointestinal hemorrhage, Epistaxis, Gastrointestinal angiodysplasia, In... |
ORPHA:99147 |
| Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1 |
|
Abnormal bleeding, Epistaxis, Cerebral hemorrhage, Epiphyseal stippling, Prolonged prothrombin ti... |
OMIM:277450 |
| Chondrodysplasia Punctata, Tibia-Metacarpal Type |
|
Micromelia, Short 3rd metacarpal, Limb undergrowth, Short tibia, Short 4th metacarpal, Short 2nd ... |
OMIM:118651 |
| Primary Intestinal Lymphangiectasia |
|
Hypoproteinemia, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia |
ORPHA:90362 |
| Hypophosphatasia, Infantile |
|
Death in infancy, Craniosynostosis, Increased susceptibility to fractures, Intracranial hemorrhag... |
OMIM:241500 |
| Metaphyseal Chondrodysplasia, Schmid Type |
|
Abnormal hand metaphysis morphology, Ulnar metaphyseal irregularity, Broad proximal phalanges of ... |
ORPHA:174 |
| Lethal Recessive Chondrodysplasia |
|
Polyhydramnios, Micromelia, Micrognathia, Flared elbow metaphyses, Limb undergrowth |
ORPHA:1423 |
| Langer Mesomelic Dysplasia |
|
Bowing of the long bones, Abnormal morphology of ulna, Micromelia, Aplasia/Hypoplasia of the fibu... |
ORPHA:2632 |
| Boomerang Dysplasia |
|
Finger syndactyly, Abnormal morphology of the radius, Abnormal morphology of ulna, Micromelia, Ap... |
ORPHA:1263 |
| Heart-Hand Syndrome Type 2 |
|
Aplasia/Hypoplasia of the thumb, Abnormal morphology of ulna, Micromelia, Abnormality of the hume... |
ORPHA:1350 |
| Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly |
|
Abnormality of the epiphyses of the elbow, Abnormality of radial epiphyses, Coxa vara, Genu valgu... |
ORPHA:166002 |
| Colchicine Poisoning |
|
Hyponatremia, Abnormal blood ion concentration, Hypophosphatemia, Hypokalemia, Hypocalcemia, Hypo... |
ORPHA:31824 |
| Neurocutaneous Melanocytosis |
|
Intracranial hemorrhage, Death in infancy, Meningocele |
ORPHA:2481 |
| Hypoparathyroidism, Familial Isolated, 2 |
|
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures |
OMIM:618883 |
| Acys Amyloidosis |
|
Death in early adulthood, Stroke, Cerebral hemorrhage |
ORPHA:100008 |
| Wyburn-Mason Syndrome |
|
Peripheral arteriovenous fistula, Epistaxis, Abnormal cerebral vascular morphology, Cerebral hemo... |
ORPHA:53719 |
| Primary Angiitis Of The Central Nervous System |
|
Intracranial hemorrhage, Stroke, Transient ischemic attack, Cerebral vasculitis |
ORPHA:140989 |
| Brachydactyly-Mesomelia-Intellectual Disability-Heart Defects Syndrome |
|
Mesomelia, Brachydactyly, Micrognathia |
ORPHA:1277 |
| Osteosclerosis With Ichthyosis And Fractures |
|
Cortical thickening of long bone diaphyses, Increased bone mineral density, Recurrent fractures |
OMIM:166740 |
| Autosomal Dominant Hypocalcemia |
|
Reduced bone mineral density, Hyperphosphatemia, Hypocalcemia, Hypomagnesemia |
ORPHA:428 |
| Mitochondrial Trifunctional Protein Deficiency 2 |
|
Death in infancy, Tricuspid regurgitation, Cerebral hemorrhage, Dilated cardiomyopathy, Mitral re... |
OMIM:620300 |
| Sneddon Syndrome |
|
Hypertension, Stroke, Ischemic stroke, Cerebral hemorrhage |
OMIM:182410 |
| Osebold-Remondini Syndrome |
|
Dysplastic distal radial epiphyses, Broad toe, Hypoplasia of the ulna, Tarsal synostosis, Type A ... |
OMIM:112910 |
| Abeta Amyloidosis, Dutch Type |
|
Death in early adulthood, Stroke, Cerebral hemorrhage |
ORPHA:100006 |
| Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome |
|
Gastrointestinal hemorrhage, Hip contracture, Cerebral hemorrhage, Diffuse alveolar hemorrhage, H... |
ORPHA:464321 |
| Diarrhea 10, Protein-Losing Enteropathy Type |
|
Hyponatremia, Hypertriglyceridemia, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia |
OMIM:618183 |
| Methanol Poisoning |
|
Myocardial infarction, Cerebral hemorrhage, Inflammatory arteriopathy, Permanent atrial fibrillat... |
ORPHA:31825 |
| Hernia, Anterior Diaphragmatic |
|
Neonatal death |
OMIM:306950 |
| Femur-Fibula-Ulna Complex |
|
Short humerus, Finger syndactyly, Abnormal morphology of ulna, Micromelia, Humeroradial synostosi... |
ORPHA:2019 |
| Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant |
|
Multiple joint contractures, Micrognathia, Flexion contracture, Subdural hemorrhage, Arthrogrypos... |
OMIM:618291 |
| Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance |
|
Hypokalemia, Increased circulating renin level, Hypomagnesemia |
OMIM:612780 |
| Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type |
|
Limb undergrowth, Abnormal limb bone morphology, Hydrops fetalis, Polyhydramnios |
ORPHA:2204 |
| Silver-Russell Syndrome Due To A Point Mutation |
|
Syndactyly, Micrognathia, Cryptorchidism, Short 5th finger, Polydactyly, Small placenta, Ectrodac... |
ORPHA:397590 |
| Focal Facial Dermal Dysplasia Type Iv |
|
Intracranial hemorrhage, Hydrocephalus |
ORPHA:398189 |
| Acromesomelic Dysplasia, Grebe Type |
|
Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Brachydactyly, Tarsal synostosis, Micr... |
ORPHA:2098 |
| Neuroleptic Malignant Syndrome |
|
Hyponatremia, Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia... |
ORPHA:94093 |
| Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
Descending thoracic aorta aneurysm, Abnormal left ventricular function, Abdominal aortic aneurysm... |
ORPHA:91387 |
| Periventricular Nodular Heterotopia 1 |
|
Patent ductus arteriosus, Stroke, Cerebral hemorrhage |
OMIM:300049 |
| Kagami-Ogata Syndrome |
|
Premature birth, Polyhydramnios, Coxa valga, Micrognathia, Large placenta |
ORPHA:254519 |
| Joubert Syndrome 15 |
|
Exencephaly |
OMIM:614464 |
| Atelosteogenesis, Type Ii |
|
Sandal gap, Micromelia, Micrognathia, Bifid humerus, Stillbirth, Short middle phalanx of finger, ... |
OMIM:256050 |
| Thanatophoric Dysplasia, Glasgow Variant |
|
Neonatal death, Micromelia |
OMIM:273680 |
| Achondrogenesis Type 1B |
|
Thickened nuchal skin fold, Micromelia, Micrognathia, Polyhydramnios, Hydrops fetalis, Short foot... |
ORPHA:93298 |
| Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Polyhydramnios, Micrognathia, Tibial bowing, Short tibia, Small proximal tibial epiphyses, Intrau... |
ORPHA:96334 |
| Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Myocardial infarction, Cerebral hemorrhage, Congestive heart failure, Hydrocephalus, Hypertension... |
ORPHA:90065 |
| Achondrogenesis Type 1A |
|
Thickened nuchal skin fold, Micromelia, Micrognathia, Polyhydramnios, Hydrops fetalis, Short foot... |
ORPHA:93299 |
| Fibronectin Glomerulopathy |
|
Hypertension, Cerebral hemorrhage |
ORPHA:84090 |
| Hereditary Hemorrhagic Telangiectasia |
|
Conjunctival telangiectasia, Gastrointestinal hemorrhage, Peripheral arteriovenous fistula, Trans... |
ORPHA:774 |
| Bartter Syndrome, Type 1, Antenatal |
|
Osteopenia, Hyperchloriduria, Increased serum prostaglandin E2, Hypercalcemia, Hypochloremia, Hyp... |
OMIM:601678 |
| Metaphyseal Acroscyphodysplasia |
|
Brachydactyly, Cone-shaped metacarpal epiphyses, Bowing of the long bones, Micromelia, Coxa valga... |
ORPHA:1240 |
| Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism |
|
Cerebral hemorrhage, Dilated cardiomyopathy, Stroke-like episode, Right aortic arch, Hypertension... |
OMIM:300845 |
| Schneckenbecken Dysplasia |
|
Hypoplastic scapulae, Nonimmune hydrops fetalis, Dumbbell-shaped long bone, Polyhydramnios, Advan... |
OMIM:269250 |
| Hyperphosphatasia With Impaired Intellectual Development Syndrome 6 |
|
Toe syndactyly, Polyhydramnios, Echogenic fetal bowel, 2-3 toe syndactyly, Shortening of all dist... |
OMIM:616809 |
| Pseudoachondroplasia |
|
Brachydactyly, Increased laxity of fingers, Shortening of all metacarpals, Hypoplasia of the odon... |
ORPHA:750 |
| Meckel Syndrome, Type 1 |
|
Occipital encephalocele, Bowing of the long bones, Syndactyly, Camptodactyly of finger, Postaxial... |
OMIM:249000 |
| Familial Multiple Nevi Flammei |
|
Pulmonary embolism, Venous insufficiency, Intracranial hemorrhage, Arteriovenous malformation, Ar... |
ORPHA:624 |
| Extracranial Carotid Artery Aneurysm |
|
Subarachnoid hemorrhage, Vasculitis, Arteriosclerosis, Hypertension, Stroke, Total anomalous pulm... |
ORPHA:494424 |
| Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant |
|
Mandibular prognathia, Death in infancy, Cerebral hemorrhage, Subdural hemorrhage, Death in child... |
OMIM:620278 |
| Acromesomelic Dysplasia 2C |
|
Hypoplasia of the ulna, Shortening of all middle phalanges of the fingers, Radial bowing, Cuboida... |
OMIM:201250 |
| Mesomelia-Synostoses Syndrome |
|
Brachydactyly, Micromelia, Micrognathia, Abnormality of the humerus, Abnormal tibia morphology, A... |
ORPHA:2496 |
| Xeroderma Pigmentosum, Complementation Group F |
|
Deficient excision of UV-induced pyrimidine dimers in DNA, Defective DNA repair after ultraviolet... |
OMIM:278760 |
| Microcephaly, Short Stature, And Limb Abnormalities |
|
11 pairs of ribs, Short metacarpal, Brachydactyly, Hypoplasia of the radius, Patellar aplasia, Ol... |
OMIM:617604 |
| Acquired Purpura Fulminans |
|
Shock, Intracranial hemorrhage, Prolonged prothrombin time, Macular purpura, Internal hemorrhage |
ORPHA:49566 |
| Telangiectasia, Hereditary Hemorrhagic, Type 4 |
|
Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Transient ischemic attack, Cerebra... |
OMIM:610655 |
| Trichohepatoenteric Syndrome 1 |
|
Polyhydramnios, Avascular necrosis of the capital femoral epiphysis, Large placenta, Abnormalitie... |
OMIM:222470 |
| Achondrogenesis |
|
Thickened nuchal skin fold, Polyhydramnios, Micromelia, Micrognathia, Hydrops fetalis, Umbilical ... |
ORPHA:932 |
| Vascular Hyalinosis |
|
Hematochezia, Vascular dilatation, Subarachnoid hemorrhage |
OMIM:277175 |
| Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Osteomyelitis, Abnormal blood ion concentration, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia, D... |
ORPHA:37042 |
| Gitelman Syndrome |
|
Hypokalemia, Increased circulating renin level, Hypomagnesemia |
OMIM:263800 |
| Dengue Fever |
|
Gastrointestinal hemorrhage, Epistaxis, Cerebral hemorrhage, Gingival bleeding, Hypotension, Brui... |
ORPHA:99828 |
| Atelosteogenesis, Type I |
|
Polyhydramnios, Micrognathia, Short metatarsal, Tibial bowing, Neonatal death, Vertebral hypoplas... |
OMIM:108720 |
| Thyrotoxic Periodic Paralysis |
|
Episodic hypokalemia, Transient hypophosphatemia, Hyperkalemia, Hypomagnesemia, Mildly elevated c... |
ORPHA:79102 |
| Restrictive Dermopathy 1 |
|
Spontaneous chorioamniotic separation, Decreased fetal movement, Premature birth, Rocker bottom f... |
OMIM:275210 |
| Chondrodysplasia With Joint Dislocations, Gpapp Type |
|
Short metacarpal, Micrognathia, Capitate-hamate fusion, Short toe, Genu valgum, Short foot, Limb ... |
OMIM:614078 |
| Leukoencephalopathy With Calcifications And Cysts |
|
Stroke, Cerebral hemorrhage |
ORPHA:542310 |
| Erythrocytosis, Familial, 2 |
|
Cerebral hemorrhage, Varicose veins, Stroke, Hypotension, Pulmonary arterial hypertension |
OMIM:263400 |
| Acrocapitofemoral Dysplasia |
|
Micromelia, Short proximal phalanx of thumb, Coxa vara, Short palm, Short tibia, Genu varum, Hypo... |
OMIM:607778 |
| Ulnar Hypoplasia |
|
Hypoplasia of the ulna, Radial bowing, Ulnar deviation of the hand, Hypoplasia of the radius, Mes... |
OMIM:191440 |
| Atelosteogenesis Type Ii |
|
Micromelia, Micrognathia, Polyhydramnios, Short phalanx of finger, Hypoplastic cervical vertebrae... |
ORPHA:56304 |
| Langer Mesomelic Dysplasia |
|
Hypoplasia of the ulna, Radial bowing, Micrognathia, Hypoplasia of the radius, Short femoral neck... |
OMIM:249700 |
| Spondylometaphyseal Dysplasia, A4 Type |
|
Short palm, Micromelia, Coxa vara |
ORPHA:168555 |
| Ulna Hypoplasia-Intellectual Disability Syndrome |
|
Hypoplasia of the ulna, Broad hallux phalanx, Micromelia, Metatarsus adductus, Hypoplasia of the ... |
ORPHA:2249 |
| Telangiectasia, Hereditary Hemorrhagic, Type 1 |
|
Conjunctival telangiectasia, Cerebral arteriovenous malformation, Tongue telangiectasia, Venous v... |
OMIM:187300 |
| Leri-Weill Dyschondrosteosis |
|
Hypoplasia of the ulna, Radial bowing, Abnormal femoral neck morphology, Dorsal subluxation of ul... |
OMIM:127300 |
| Thanatophoric Dysplasia, Type Ii |
|
Decreased fetal movement, Small abnormally formed scapulae, Micromelia, Polyhydramnios, Flared me... |
OMIM:187601 |
| Ophthalmomandibulomelic Dysplasia |
|
Camptodactyly of finger, Micromelia, Lateral humeral condyle aplasia, Symphalangism affecting the... |
ORPHA:2741 |
| Image Syndrome |
|
Metaphyseal dysplasia, Intrauterine growth retardation, Micromelia, Cryptorchidism |
ORPHA:85173 |
| Polycythemia Vera |
|
Gastrointestinal hemorrhage, Cerebral ischemia, Budd-Chiari syndrome, Cerebral hemorrhage |
OMIM:263300 |
| Joubert Syndrome 14 |
|
Encephalocele, Hydrocephalus, Meningocele, Intracranial hemorrhage, Hypertension |
OMIM:614424 |
| Camptomelic Syndrome, Long-Limb Type |
|
Bowing of the long bones, Micromelia |
OMIM:211990 |
| Acromesomelic Dysplasia 3 |
|
Carpal synostosis, Hypoplasia of the ulna, Brachydactyly, Tarsal synostosis, Short toe, Short 1st... |
OMIM:609441 |
| Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome |
|
Neonatal death, Patent ductus arteriosus, Coarctation of aorta |
OMIM:601612 |
| Beta-Mercaptolactate Cysteine Disulfiduria |
|
Sandal gap, Arachnodactyly, Micromelia, Genu valgum, Umbilical hernia |
ORPHA:1035 |
| Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome |
|
Bowing of the long bones, Camptodactyly of finger, Abnormal metacarpal morphology, Mesomelia, Abn... |
ORPHA:2631 |
| Thoracomelic Dysplasia |
|
Abnormal fibula morphology, Genu valgum, Short ribs, Limb undergrowth, Abnormal metaphysis morpho... |
ORPHA:1803 |
| Congenital Varicella Syndrome |
|
Intrauterine growth retardation, Micromelia |
ORPHA:291 |
| Autosomal Recessive Omodysplasia |
|
Abnormal morphology of the radius, Rhizomelia, Micromelia, Micrognathia, Cryptorchidism, Increase... |
ORPHA:93329 |
| Non-Functioning Paraganglioma |
|
Cerebral hemorrhage, Congestive heart failure, Palpitations, Positive regitine blocking test, Sin... |
ORPHA:94080 |
| Hypochondroplasia |
|
Bowing of the long bones, Brachydactyly, Micromelia, Short toe, Abnormal femur morphology, Abnorm... |
ORPHA:429 |
| Acrocephalopolydactyly |
|
Limb undergrowth, Brachydactyly |
ORPHA:221054 |
| Mesomelic Dysplasia, Nievergelt Type |
|
Finger syndactyly, Abnormal morphology of ulna, Micromelia, Tarsal synostosis, Camptodactyly of f... |
ORPHA:2633 |
| Ruvalcaba Syndrome |
|
Short metacarpal, Micromelia, Cryptorchidism, Short metatarsal, Small hand, Short foot, Short pal... |
OMIM:180870 |
| Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency |
|
Micrognathia, Severe intrauterine growth retardation, Small placenta, Clinodactyly of the 5th fin... |
ORPHA:73272 |
| Fibular Hemimelia |
|
Bowing of the legs, Tibial bowing, Foot oligodactyly, Short tibia, Finger syndactyly, Abnormal mo... |
ORPHA:93323 |
| Fibular Aplasia-Complex Brachydactyly Syndrome |
|
Abnormal morphology of the radius, Brachydactyly, Tarsal synostosis, Micromelia, Aplasia/Hypoplas... |
ORPHA:2639 |
| Rhizomelic Chondrodysplasia Punctata |
|
Limb undergrowth, Abnormal metaphysis morphology, Spina bifida occulta, Rhizomelia |
ORPHA:177 |
| Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome |
|
Hypoplastic scapulae, Short femur, Rhizomelia, Dumbbell-shaped long bone, Micromelia, Micrognathi... |
ORPHA:440354 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 12 |
|
Death in infancy, Intraventricular hemorrhage, Death in adolescence, Prolonged prothrombin time, ... |
OMIM:619055 |
| Familial Hyperaldosteronism Type I |
|
Intracranial hemorrhage, Hypertension, Epistaxis |
ORPHA:403 |
| 1P31P32 Microdeletion Syndrome |
|
Intraventricular hemorrhage, Craniosynostosis, Moyamoya phenomenon |
ORPHA:401986 |
| Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Short metacarpal, Micromelia, Abnormal carpal morphology, Short metatarsal, Coxa vara, Upper limb... |
ORPHA:93351 |
| Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type |
|
Shortening of all metacarpals, Shortening of all phalanges of fingers, Bilateral talipes equinova... |
OMIM:601356 |
| Restrictive Dermopathy |
|
Aplasia/Hypoplasia of the clavicles, Decreased fetal movement, Premature birth, Camptodactyly of ... |
ORPHA:1662 |
| Astley-Kendall Dysplasia |
|
Micromelia |
ORPHA:85175 |
| Bartter Syndrome, Type 2, Antenatal |
|
Osteopenia, Hyperchloriduria, Increased serum prostaglandin E2, Hypochloremia, Hypokalemia, Incre... |
OMIM:241200 |
| Spondyloepimetaphyseal Dysplasia, Matrilin-3 Type |
|
Limb undergrowth, Bowing of the legs |
ORPHA:156728 |
| Micromelic Bone Dysplasia With Cloverleaf Skull |
|
Micromelia |
OMIM:156830 |
| Pseudoxanthoma Elasticum, Forme Fruste |
|
Gastrointestinal hemorrhage, Medial calcification of large arteries, Premature occlusive vascular... |
OMIM:177850 |
| Platyspondylic Lethal Skeletal Dysplasia, Torrance Type |
|
Radial bowing, Rhizomelia, Dumbbell-shaped long bone, Micromelia, Polyhydramnios, Stillbirth, Sho... |
OMIM:151210 |
| Erythrocytosis, Familial, 1 |
|
Hypertension, Cerebral hemorrhage, Myocardial infarction |
OMIM:133100 |
| Hypomagnesemia 5, Renal, With Or Without Ocular Involvement |
|
Hypomagnesemia |
OMIM:248190 |
| Mesomelic Dysplasia, Kantaputra Type |
|
Camptodactyly of finger, Tarsal synostosis, Abnormality of the humerus, Abnormal fibula morpholog... |
ORPHA:1836 |
| Platyspondylic Dysplasia, Torrance Type |
|
Bowing of the long bones, Hypoplastic scapulae, Micromelia, Polyhydramnios, Abnormal carpal morph... |
ORPHA:85166 |
| Familial Hyperaldosteronism Type Ii |
|
Intracranial hemorrhage, Hypertension, Epistaxis |
ORPHA:404 |
| Bartter Syndrome Type 4 |
|
Hyponatremia, Hypochloremia, Hypokalemia, Increased circulating renin level, Hypomagnesemia |
ORPHA:89938 |
| Pseudo-Torch Syndrome 3 |
|
Death in infancy, Hypertension, Cerebral hemorrhage |
OMIM:618886 |
| Menkes Disease |
|
Gastrointestinal hemorrhage, Osteomyelitis, Tarsal synostosis, Recurrent fractures, Micrognathia,... |
ORPHA:565 |
| Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome |
|
Hypocalcemic tetany, Hypocalcemia, Hypomagnesemia |
ORPHA:73224 |
| Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly |
|
Short metacarpal, Brachydactyly, Sandal gap, Postaxial polydactyly, Short metatarsal, Cone-shaped... |
OMIM:617102 |
| Weyers Ulnar Ray/Oligodactyly Syndrome |
|
Proximal placement of thumb, Absent thumb, Micrognathia, Hypoplasia of the radius, Hand oligodact... |
OMIM:602418 |
| Léri-Weill Dyschondrosteosis |
|
Micromelia, Abnormal tibia morphology, Abnormal carpal morphology, Abnormal femur morphology, Tib... |
ORPHA:240 |
| Tarp Syndrome |
|
Micrognathia, Subdural hemorrhage, Neonatal death, Intrauterine growth retardation, Tetralogy of ... |
OMIM:311900 |
| Terminal Osseous Dysplasia |
|
Syndactyly, Camptodactyly of finger, Abnormal hand bone ossification, Short toe, Mesomelic arm sh... |
OMIM:300244 |
| Acrocapitofemoral Dysplasia |
|
Cone-shaped metacarpal epiphyses, Abnormal femoral neck morphology, Micromelia, Coxa vara, Short ... |
ORPHA:63446 |
| Kyphomelic Dysplasia |
|
Bowing of the long bones, Micromelia, Micrognathia, Missing ribs, Large hands, Abnormal metaphysi... |
ORPHA:1801 |
| Deafness-Lymphedema-Leukemia Syndrome |
|
Intracranial hemorrhage, Prolonged bleeding time, Bruising susceptibility |
ORPHA:3226 |
| Parkes Weber Syndrome |
|
Abnormal bleeding, Peripheral arteriovenous fistula, Cerebral arteriovenous malformation, Subarac... |
ORPHA:90307 |
| Autoerythrocyte Sensitization Syndrome |
|
Gastrointestinal hemorrhage, Epistaxis, Intracranial hemorrhage, Oral cavity bleeding, Menorrhagi... |
ORPHA:324636 |
| Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Encephalocele, Micromelia, Bowing of the legs, Micrognathia, Cryptorchidism, Hydrops fetalis, Clu... |
ORPHA:1865 |
| Familial Hyperaldosteronism Type Iii |
|
Prolonged QT interval, Hypertension, Epistaxis, Intracranial hemorrhage |
ORPHA:251274 |
| Propionic Acidemia |
|
Cardiomyopathy, Cerebellar hemorrhage, Osteoporosis |
OMIM:606054 |
| Craniosynostosis, Herrmann-Opitz Type |
|
Finger syndactyly, Micromelia, Micrognathia, Split hand, Oligohydramnios, Intrauterine growth ret... |
ORPHA:2145 |
| Acromesomelic Dysplasia 4 |
|
Broad toe, Short metacarpal, Radial bowing, Rhizomelia, Sandal gap, Prominent deltoid tuberositie... |
OMIM:619636 |
| Diastrophic Dysplasia |
|
Bowing of the long bones, Camptodactyly of finger, Proximal placement of thumb, Micromelia, Micro... |
ORPHA:628 |
| Mesomelic Dwarfism, Reinhardt-Pfeiffer Type |
|
Hypoplasia of the ulna, Abnormal morphology of ulna, Micromelia, Abnormal tibia morphology, Fibul... |
ORPHA:2634 |
| Laron Syndrome |
|
Limb undergrowth |
OMIM:262500 |
| Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
|
11 pairs of ribs, Rhizomelia, Metaphyseal cupping of proximal phalanges, Metaphyseal cupping of m... |
OMIM:300863 |
| Pheochromocytoma--Islet Cell Tumor Syndrome |
|
Tachycardia, Cerebral hemorrhage, Congestive heart failure, Episodic hypertension, Positive regit... |
OMIM:171420 |
| Telangiectasia, Hereditary Hemorrhagic, Type 2 |
|
Conjunctival telangiectasia, Cerebral arteriovenous malformation, Tongue telangiectasia, Spinal a... |
OMIM:600376 |
| Osteogenesis Imperfecta, Type Xvii |
|
Joint laxity, Recurrent fractures, Intraventricular hemorrhage, Osteoporosis, Reduced bone minera... |
OMIM:616507 |
| Fanconi Anemia, Complementation Group E |
|
Absent thumb, Absent radius, Short thumb, Cryptorchidism, Deficient excision of UV-induced pyrimi... |
OMIM:600901 |
| Distal Deletion 17Q |
|
Aplasia/Hypoplasia of the thumb, Premature birth, Micromelia, Abnormal thumb morphology, Small ha... |
ORPHA:1597 |
| Mirage Syndrome |
|
Radial club hand, Patent ductus arteriosus, Hydrocephalus, Intracranial hemorrhage, Intrauterine ... |
OMIM:617053 |
| Hypomagnesemia 3, Renal |
|
Hyperuricemia, Hypomagnesemia |
OMIM:248250 |
| Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome |
|
Cryptorchidism, Single umbilical artery, Micromelia, Intrauterine growth retardation |
ORPHA:2772 |
| Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Short femur, Fractured radius, Polyhydramnios, Decreased fibular diameter, Micrognathia, Flared m... |
OMIM:616897 |
| Isovaleric Acidemia |
|
Cerebellar hemorrhage |
OMIM:243500 |
| Aspergillosis |
|
Intracranial hemorrhage, Osteomyelitis, Stroke |
ORPHA:1163 |
| Jeune Syndrome |
|
Toe syndactyly, Micromelia, Postaxial hand polydactyly, Postaxial foot polydactyly, Short foot, A... |
ORPHA:474 |
| Fanconi Anemia, Complementation Group C |
|
Absent thumb, Absent radius, Short thumb, Cryptorchidism, Deficient excision of UV-induced pyrimi... |
OMIM:227645 |
| Pallister-Hall-Like Syndrome |
|
Occipital encephalocele, Toe syndactyly, Micromelia, Micrognathia, Postaxial hand polydactyly, Po... |
OMIM:241800 |
| Mesomelia-Synostoses Syndrome |
|
Microretrognathia, Ulnar deviation of the hand, Progressive forearm bowing, Micromelia, Micrognat... |
OMIM:600383 |
| Radial Hypoplasia-Triphalangeal Thumbs-Hypospadias-Maxillary Diastema Syndrome |
|
Hypoplasia of the radius, Nonopposable triphalangeal thumb, Micromelia |
ORPHA:2252 |
| Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Occipital encephalocele, Bowing of the long bones, Micromelia, Micrognathia, Cryptorchidism, Sing... |
OMIM:224410 |
| Fanconi Anemia, Complementation Group A |
|
Absent thumb, Absent radius, Short thumb, Cryptorchidism, Deficient excision of UV-induced pyrimi... |
OMIM:227650 |
| Nievergelt Syndrome |
|
Tarsal synostosis, Genu valgum, Radioulnar synostosis, Talipes equinovarus, Mesomelia, Metatarsal... |
OMIM:163400 |
| Schisis Association |
|
Encephalocele, Premature birth, Spina bifida, Micromelia, Anencephaly |
ORPHA:63862 |
| Classic Homocystinuria |
|
Gastrointestinal hemorrhage, Recurrent fractures, Pulmonary embolism, Joint stiffness, Osteoporos... |
ORPHA:394 |
| Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome |
|
Epistaxis, Intracranial hemorrhage, Hypertension, Second degree atrioventricular block, Pulmonary... |
ORPHA:369929 |
| Wiskott-Aldrich Syndrome |
|
Prolonged bleeding time, Recurrent intrapulmonary hemorrhage, Epistaxis, Sudden cardiac death, He... |
ORPHA:906 |
| Cystinosis, Nephropathic |
|
Hyponatremia, Rickets, Reduced blood urea nitrogen, Hypophosphatemia, Hypokalemia, Hypomagnesemia... |
OMIM:219800 |
| Cerebral Visual Impairment |
|
Intracranial hemorrhage, Hydrocephalus, Ischemic stroke |
ORPHA:447788 |
| Spondylometaphyseal Dysplasia With Corneal Dystrophy |
|
Brachydactyly, Metaphyseal widening, Short ribs, Limb undergrowth, Coarse metaphyseal trabeculari... |
OMIM:618961 |
| Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion |
|
Epistaxis, Intracranial hemorrhage, Hypertension, Palpitations, Abnormal T-wave |
ORPHA:231625 |
| Microcephaly-Micromelia Syndrome |
|
Micromelia, Micrognathia, Absent thumb, Absent radius, Missing ribs, Humeroradial synostosis, For... |
OMIM:251230 |
| Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome |
|
Brachydactyly, Camptodactyly of finger, Micromelia, Ulnar deviation of finger |
ORPHA:2928 |
| Verloove Vanhorick-Brubakk Syndrome |
|
Finger syndactyly, Tarsal synostosis, Micrognathia, Cryptorchidism, Abnormal femur morphology, Ab... |
ORPHA:3429 |
| Kaposiform Lymphangiomatosis |
|
Abnormal bleeding, Epidural hemorrhage, Epistaxis, Fractures of the long bones, Osteolysis, Abnor... |
ORPHA:464329 |
| Tempi Syndrome |
|
Intracranial hemorrhage, Telangiectasia |
ORPHA:284227 |
| Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Micromelia, Genu varum, Flared metaphysis, Coxa vara, Short ribs, Short femoral neck, Limb underg... |
OMIM:602557 |
| Müllerian Duct Anomalies-Limb Anomalies Syndrome |
|
Short humerus, Micromelia, Postaxial hand polydactyly, Split hand, Aplasia/Hypoplasia of the ulna |
ORPHA:2491 |
| Aminopterin/Methotrexate Embryofetopathy |
|
Encephalocele, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Micromelia, Micrognathia, Meni... |
ORPHA:1908 |
| Hutchinson-Gilford Progeria Syndrome |
|
Myocardial infarction, Micrognathia, Osteoarthritis, Reduced bone mineral density, Intracranial h... |
ORPHA:740 |
| Schwartz-Jampel Syndrome, Type 1 |
|
Bowing of the long bones, Micromelia, Bowing of the legs, Micrognathia, Coxa valga, Metaphyseal w... |
OMIM:255800 |
| Trichothiodystrophy |
|
Abnormality of prenatal development or birth, Hypoplasia of mandible relative to maxilla, Cryptor... |
ORPHA:33364 |
| Pseudo-Torch Syndrome 2 |
|
Patent ductus arteriosus, Bradycardia, Petechiae, Cerebral hemorrhage |
OMIM:617397 |
| Mesomelic Dysplasia, Savarirayan Type |
|
Broad tibial metaphyses, Bowing of the long bones, Hypoplasia of proximal radius, Mesomelia, Meta... |
ORPHA:85170 |
| Bannayan-Riley-Ruvalcaba Syndrome |
|
Angina pectoris, Micrognathia, Telangiectasia, Intracranial hemorrhage, Joint hyperflexibility, A... |
ORPHA:109 |
| Orofaciodigital Syndrome Type 10 |
|
Radial deviation of the hand, Duplication of thumb phalanx, Tarsal synostosis, Micrognathia, Shor... |
ORPHA:2756 |
| Ophthalmomandibulomelic Dysplasia |
|
Radial bowing, Coxa valga, Lateral humeral condyle aplasia, Fibular hypoplasia, Mesomelia, Ulnar ... |
OMIM:164900 |
| Neu-Laxova Syndrome 1 |
|
Micromelia, Micrognathia, Polyhydramnios, Fetal akinesia sequence, Calcaneovalgus deformity, Neon... |
OMIM:256520 |
| Stormorken Syndrome |
|
Abnormal bleeding, Epistaxis, Subarachnoid hemorrhage, Stroke-like episode, Bruising susceptibility |
OMIM:185070 |
| Mesomelic Dysplasia, Kantaputra Type |
|
Carpal synostosis, Radial bowing, Tarsal synostosis, Mesomelia |
OMIM:156232 |
| Achondrogenesis, Type Ia |
|
Abnormal femoral metaphysis morphology, Hypoplastic scapulae, Hypoplastic sacrum, Micromelia, Bow... |
OMIM:200600 |
| Greenberg Dysplasia |
|
Brachydactyly, Rhizomelia, Micromelia, Micrognathia |
ORPHA:1426 |
| Pearson Syndrome |
|
Hypomagnesemia, Hypokalemia, Hypocalcemia, Hypophosphatemia, Hyperalaninemia |
ORPHA:699 |
| Osteogenesis Imperfecta |
|
Osteopenia, Abnormality of dental color, Micrognathia, Osteoarthritis, Flexion contracture, Decre... |
ORPHA:666 |
| Metatropic Dysplasia |
|
Camptodactyly of finger, Micromelia, Clinodactyly of the 5th finger, Abnormal metaphysis morpholo... |
ORPHA:2635 |
| Fanconi Anemia, Complementation Group D2 |
|
Absent thumb, Absent radius, Short thumb, Preaxial hand polydactyly, Partial duplication of thumb... |
OMIM:227646 |
| Spondyloepiphyseal Dysplasia, Kimberley Type |
|
Micromelia |
ORPHA:93283 |
| Thanatophoric Dysplasia Type 2 |
|
Encephalocele, Polyhydramnios, Micromelia, Increased nuchal translucency, Abnormal metaphysis mor... |
ORPHA:93274 |
| Acyl-Coa Dehydrogenase 9 Deficiency |
|
Sudden cardiac death, Congestive heart failure, Cerebellar hemorrhage, Dilated cardiomyopathy, Pr... |
ORPHA:99901 |
| 4Q21 Microdeletion Syndrome |
|
Toe syndactyly, Micromelia, Small hand, Short foot, Short palm, Intrauterine growth retardation |
ORPHA:238750 |
| Phocomelia, Schinzel Type |
|
Bowing of the long bones, Radial bowing, Micromelia, Micrognathia, Aplasia of the ulna, Cryptorch... |
ORPHA:2879 |
| Beckwith-Wiedemann Syndrome |
|
Premature birth, Polyhydramnios, Large placenta, Cryptorchidism, Subchorionic septal cyst, Umbili... |
ORPHA:116 |
| Kyphoscoliotic Ehlers-Danlos Syndrome |
|
Osteopenia, Cerebral hemorrhage, Antenatal intracerebral hemorrhage, Micrognathia, Subdural hemor... |
ORPHA:536545 |
| Congenital Insensitivity To Pain With Severe Intellectual Disability |
|
Rocker bottom foot, Micrognathia, Tibial bowing, Limb undergrowth, Oligohydramnios |
ORPHA:453510 |
| Odontochondrodysplasia 1 |
|
Short metacarpal, Brachydactyly, Micromelia, Metaphyseal widening, Cone-shaped epiphyses of the p... |
OMIM:184260 |
| Fetal Akinesia Deformation Sequence 1 |
|
Decreased fetal movement, Ulnar deviation of the hand, Premature birth, Rocker bottom foot, Campt... |
OMIM:208150 |
| Congenital Disorder Of Glycosylation, Type Iw, Autosomal Dominant |
|
Mandibular prognathia, Intrauterine growth retardation, Osteoarthritis, Subdural hemorrhage |
OMIM:619714 |
| Acromesomelic Dysplasia, Hunter-Thompson Type |
|
Short metacarpal, Brachydactyly, Tarsal synostosis, Cuboidal metacarpal, Short thumb, Acromesomel... |
ORPHA:968 |
| Hypertrichosis Cubiti |
|
Rhizomelia, Micromelia |
ORPHA:2220 |
| Otospondylomegaepiphyseal Dysplasia |
|
Short metacarpal, Sandal gap, Polyhydramnios, Micrognathia, Tibial bowing, Fibular bowing, Limb u... |
ORPHA:1427 |
| Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections |
|
Cerebral vasculitis, Subarachnoid hemorrhage |
OMIM:243700 |
| Bone Dysplasia, Lethal Holmgren Type |
|
Metaphyseal dysplasia, Rhizomelia, Micromelia, Abnormal thumb morphology, Abnormal femur morpholo... |
ORPHA:1842 |
| Ruvalcaba Syndrome |
|
Short metacarpal, Brachydactyly, Proximal placement of thumb, Micromelia, Cryptorchidism, Small h... |
ORPHA:3121 |
| Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Limb undergrowth, Intrauterine growth retardation, Low APGAR score |
ORPHA:79243 |
| Thanatophoric Dysplasia |
|
Polyhydramnios, Micromelia, Increased nuchal translucency, Intrauterine growth retardation, Abnor... |
ORPHA:2655 |
| Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Cardiomyopathy, Cerebellar hemorrhage |
OMIM:251000 |
| Hydrolethalus |
|
Premature birth, Polyhydramnios, Micromelia, Micrognathia, Cryptorchidism, Postaxial hand polydac... |
ORPHA:2189 |
| Odontochondrodysplasia |
|
Bowing of the long bones, Micromelia, Coxa valga, Short palm, Abnormal metaphysis morphology |
ORPHA:166272 |
| Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Cerebral hemorrhage, Congestive heart failure, Palpitations, Positive regitine blocking test, Sin... |
ORPHA:276621 |
| Chromosome 4Q32.1-Q32.2 Triplication Syndrome |
|
Mandibular prognathia, Microretrognathia, Intraventricular hemorrhage, Hydrocephalus, Hypoplasia ... |
OMIM:613603 |
| Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Death in infancy, Dilated cardiomyopathy, Elbow flexion contracture, Knee flexion contracture, Ar... |
OMIM:608836 |
| Acrodysostosis |
|
Hypoplasia of the ulna, Short metacarpal, Abnormal morphology of the radius, Abnormal morphology ... |
ORPHA:950 |
| C Syndrome |
|
Short metacarpal, Toe syndactyly, Micromelia, Micrognathia, Cryptorchidism, Postaxial hand polyda... |
OMIM:211750 |
| Tibial Hemimelia |
|
Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Cutaneous finger syndactyly, Foot o... |
ORPHA:93322 |
| Pheochromocytoma |
|
Tachycardia, Cerebral hemorrhage, Congestive heart failure, Episodic hypertension, Renal artery s... |
OMIM:171300 |
| Crimean-Congo Hemorrhagic Fever |
|
Bundle branch block, Stiff neck, Abnormal left ventricular function, Ecchymosis, Internal hemorrh... |
ORPHA:99827 |
| Cocaine Intoxication |
|
Prolonged QT interval, Tachycardia, Prolonged QRS complex, Myocardial infarction, Diffuse alveola... |
ORPHA:90068 |
| Atelosteogenesis Type I |
|
Short femur, Rhizomelia, Polyhydramnios, Micrognathia, Abnormal ossification involving the femora... |
ORPHA:1190 |
| Hemorrhagic Fever-Renal Syndrome |
|
Shock, Tachycardia, Epistaxis, Hematemesis, Capillary leak, Intracranial hemorrhage, Melena, Hype... |
ORPHA:340 |
| Dyssegmental Dysplasia, Rolland-Desbuquois Type |
|
Encephalocele, Bowing of the long bones, Micromelia, Micrognathia, Metaphyseal widening, Advanced... |
OMIM:224400 |
| Mesomelic Dysplasia, Savarirayan Type |
|
Mesomelia, Short tibia, Dislocated radial head, Fibular aplasia |
OMIM:605274 |
| Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
Syndactyly, Brachydactyly, Hypoplastic scapulae, Bowing of the long bones, Micromelia, Postaxial ... |
OMIM:614091 |
| Xeroderma Pigmentosum, Complementation Group E |
|
Defective DNA repair after ultraviolet radiation damage |
OMIM:278740 |
| Autoinflammatory Disease, Systemic, X-Linked |
|
Osteomyelitis, Cerebral hemorrhage |
OMIM:301081 |
| Short-Rib Thoracic Dysplasia 12 |
|
Hypoplastic scapulae, Polyhydramnios, Bowing of the legs, Short toe, Anencephaly, Short foot, Int... |
OMIM:269860 |
| Becker Nevus Syndrome |
|
Abnormal tibia morphology, Spina bifida occulta, Micromelia |
ORPHA:64755 |
| Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia |
|
Aplasia/Hypoplasia of the thumb, Short humerus, Absent radius, Ulnar bowing, Split hand, Mesomeli... |
OMIM:171480 |
| Ehlers-Danlos Syndrome, Dermatosparaxis Type |
|
Premature birth, Micrognathia, Short toe, Premature rupture of membranes, Limb undergrowth, Umbil... |
OMIM:225410 |
| Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Congestive heart failure, Intracranial hemorrhage, Hypertension, Mitral regurgitation, Aortic ath... |
ORPHA:363618 |
| Glutaryl-Coa Dehydrogenase Deficiency |
|
Communicating hydrocephalus, Subdural hemorrhage, Retinal hemorrhage |
ORPHA:25 |
| Coxoauricular Syndrome |
|
Abnormal femur morphology, Micromelia |
ORPHA:1508 |
| Cenani-Lenz Syndrome |
|
Hypoplasia of the ulna, Finger syndactyly, Toe syndactyly, Micromelia, Short thumb, Hypoplasia of... |
ORPHA:3258 |
| Loeys-Dietz Syndrome 3 |
|
Tortuous cerebral arteries, Osteoarthritis, Knee osteoarthritis, Abdominal aortic aneurysm, Joint... |
OMIM:613795 |
| Robinow Syndrome, Autosomal Dominant 2 |
|
Brachydactyly, Micrognathia, Cryptorchidism, Partial duplication of thumb phalanx, Partial duplic... |
OMIM:616331 |
| Cardioacrofacial Dysplasia 2 |
|
Postaxial hand polydactyly, Clubbing, Genu valgum, Postaxial foot polydactyly, Limb undergrowth, ... |
OMIM:619143 |
| Dyschondrosteosis-Nephritis Syndrome |
|
Radial bowing, Micromelia, Ulnar bowing, Aplasia/Hypoplasia of the radius, Intrauterine growth re... |
ORPHA:1765 |
| Achondroplasia |
|
Rhizomelia, Bowing of the legs, Short proximal phalanx of finger, Short middle phalanx of finger,... |
ORPHA:15 |
| Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age |
|
Microretrognathia, Monkey wrench femoral neck, Micromelia, Increased nuchal translucency, 2-3 toe... |
OMIM:618870 |
| De Sanctis-Cacchione Syndrome |
|
Bilateral coxa valga, Bilateral cryptorchidism, Defective DNA repair after ultraviolet radiation ... |
OMIM:278800 |
| Xeroderma Pigmentosum, Complementation Group C |
|
Defective DNA repair after ultraviolet radiation damage |
OMIM:278720 |
| Robinow Syndrome, Autosomal Recessive 1 |
|
Micrognathia, Short palm, Duplication of the distal phalanx of hand, Dislocated radial head, Radi... |
OMIM:268310 |
| Ollier Disease |
|
Abnormal metaphysis morphology, Micromelia |
ORPHA:296 |
| Glutamine Deficiency, Congenital |
|
Neonatal death, Micromelia, Camptodactyly |
OMIM:610015 |
| X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Hyperextensibility of the finger joints, Patent ductus arteriosus, Hydrocephalus, Heart murmur, I... |
ORPHA:163979 |
| Osteogenesis Imperfecta, Type Ii |
|
Limb undergrowth, Premature birth, Nonimmune hydrops fetalis, Tibial bowing |
OMIM:166210 |
| Thanatophoric Dysplasia Type 1 |
|
Bowing of the long bones, Short femur, Micromelia, Polyhydramnios, Increased nuchal translucency,... |
ORPHA:1860 |
| Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Joint laxity, Hip contracture, Hyperextensibility of the finger joints, Flexion contracture, Elbo... |
OMIM:619503 |
| Idiopathic Hypereosinophilic Syndrome |
|
Myelofibrosis, Transient ischemic attack, Supraventricular arrhythmia, Pulmonary embolism, Raynau... |
ORPHA:3260 |
| Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Pulmonary embolism, Hydrocephalus, Dilated cardiomyopathy, Subdural hemorrhage, Stroke, Pulmonary... |
ORPHA:79282 |
| Cockayne Syndrome Type 3 |
|
Carious teeth, Flexion contracture, Subdural hemorrhage, Retinal hemorrhage, Cardiomyopathy, Aort... |
ORPHA:90324 |
| Achondrogenesis Type 2 |
|
Delayed proximal femoral epiphyseal ossification, Short ribs, Micromelia |
ORPHA:93296 |
| Cardioacrofacial Dysplasia 1 |
|
Limb undergrowth, Postaxial polydactyly, Genu valgum |
OMIM:619142 |
| Hereditary Pheochromocytoma-Paraganglioma |
|
Cerebral hemorrhage, Congestive heart failure, Palpitations, Positive regitine blocking test, Sin... |
ORPHA:29072 |
| Multiple Osteochondromas |
|
Deformed radius, Short metacarpal, Bowing of the long bones, Abnormal morphology of ulna, Coxa va... |
ORPHA:321 |
| Acromesomelic Dysplasia 1 |
|
Short metacarpal, Radial bowing, Broad metatarsal, Short toe, Hypoplasia of the radius, Short met... |
OMIM:602875 |
| Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly |
|
Metaphyseal dysplasia, Radial bowing, Broad hallux, Rhizomelia, Bowed humerus, Flared metaphysis,... |
OMIM:618019 |
| Arachnoid Cyst |
|
Encephalocele, Hydrocephalus, Holoprosencephaly, Subarachnoid hemorrhage |
ORPHA:2356 |
| Dpm1-Cdg |
|
Sandal gap, Micrognathia, Camptodactyly, Limb undergrowth, Long hallux |
ORPHA:79322 |
| Cousin Syndrome |
|
Hypoplastic scapulae, Rhizomelia, Micrognathia, 4-5 toe syndactyly, Humeroradial synostosis, 2-3 ... |
OMIM:260660 |
| Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Syndactyly, Micromelia, Postaxial polydactyly, Hypoplasia of the radius, Short ribs, Brachydactyly |
OMIM:617895 |
| Xeroderma Pigmentosum, Complementation Group A |
|
Defective DNA repair after ultraviolet radiation damage |
OMIM:278700 |
| Kagami-Ogata Syndrome |
|
Premature birth, Polyhydramnios, Coxa valga, Micrognathia, Long fingers, Limb undergrowth |
OMIM:608149 |
| Spondyloepimetaphyseal Dysplasia, Aggrecan Type |
|
Rhizomelia, Metaphyseal widening, Short finger, Mesomelia, Broad thumb, Brachydactyly |
OMIM:612813 |
| Xfe Progeroid Syndrome |
|
Defective DNA repair after ultraviolet radiation damage |
OMIM:610965 |
| Hydranencephaly |
|
Stiff neck, Abnormal internal carotid artery morphology, Dilatation of the ventricular cavity, Ab... |
ORPHA:2177 |
| Hypertelorism-Hypospadias-Polysyndactyly Syndrome |
|
Encephalocele, Exencephaly |
ORPHA:2211 |
| Short-Rib Thoracic Dysplasia 18 With Polydactyly |
|
Radial bowing, Micromelia, Micrognathia, Postaxial polydactyly, Missing ribs, Ulnar bowing, Preax... |
OMIM:617866 |
| Xeroderma Pigmentosum, Complementation Group D |
|
Defective DNA repair after ultraviolet radiation damage |
OMIM:278730 |
| Neurodevelopmental Disorder With Seizures And Speech And Walking Impairment |
|
Fetal intraventricular hemorrhage |
OMIM:618480 |
| Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type |
|
Metaphyseal spurs, Micromelia, Bowing of the legs, Metaphyseal widening, Femoral bowing |
OMIM:608728 |
| Medulloblastoma |
|
Cerebellar hemorrhage, Hydrocephalus |
ORPHA:616 |
| Thoracic Dysplasia-Hydrocephalus Syndrome |
|
Limb undergrowth, Abnormal metaphysis morphology |
ORPHA:1861 |
| Osteoglophonic Dysplasia |
|
Short metacarpal, Hypoplastic scapulae, Rhizomelia, Bowing of the long bones, Camptodactyly of fi... |
OMIM:166250 |
| Blomstrand Lethal Chondrodysplasia |
|
Short metacarpal, Bowing of the long bones, Rhizomelia, Premature birth, Aplastic clavicle, Micro... |
ORPHA:50945 |
| Cartilage-Hair Hypoplasia |
|
Metaphyseal dysplasia, Abnormality of chromosome stability, Bowing of the long bones, Rhizomelia,... |
ORPHA:175 |
| Hall-Riggs Syndrome |
|
Limb undergrowth, Abnormal metaphysis morphology, Brachydactyly |
ORPHA:2107 |
| Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Bowing of the legs, Metaphyseal widening, Flared metaphysis, Limb undergrowth, Fibular overgrowth... |
ORPHA:93352 |
| Mosaic Trisomy 9 |
|
Rocker bottom foot, Micromelia, Spina bifida, Micrognathia, Camptodactyly of finger, Polyhydramni... |
ORPHA:99776 |
| Glycogen Storage Disease Ii |
|
Wolff-Parkinson-White syndrome, Right axis deviation, Subarachnoid hemorrhage, Shortened PR inter... |
OMIM:232300 |
| Methylmalonic Acidemia With Homocystinuria Type Cblf |
|
Intraventricular hemorrhage, Intrauterine growth retardation |
ORPHA:79284 |
| Gm1 Gangliosidosis |
|
Premature birth, Camptodactyly of finger, Hydrops fetalis, Abnormal diaphysis morphology, Limb un... |
ORPHA:354 |
| Hellp Syndrome |
|
Prolonged prothrombin time, Cerebral hemorrhage, Internal hemorrhage, Hypotension |
ORPHA:244242 |
| Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency |
|
Intracranial hemorrhage, Hypertension |
ORPHA:90795 |
| Microlissencephaly-Micromelia Syndrome |
|
11 pairs of ribs, Polyhydramnios, Micromelia, Fetal pyelectasis, Adducted thumb |
ORPHA:50810 |
| Spondyloepimetaphyseal Dysplasia, Aggrecan Type |
|
Brachydactyly, Rhizomelia, Broad thumb, Mesomelia |
ORPHA:171866 |
| Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Short metacarpal, Polyhydramnios, Micrognathia, Hypoplasia of the odontoid process, Enlarged meta... |
ORPHA:508533 |
| Pituitary Deficiency Due To Rathke Cleft Cysts |
|
Intracranial hemorrhage, Hydrocephalus |
ORPHA:91350 |
| Dpagt1-Cdg |
|
Prolonged QT interval, Flexion contracture, Osteoporosis, Stroke-like episode, Intracranial hemor... |
ORPHA:86309 |
| Endocrine-Cerebroosteodysplasia |
|
Syndactyly, Bowed forearm bones, Ulnar deviation of the hand, Sandal gap, Micromelia, Micrognathi... |
OMIM:612651 |
| Kyphomelic Dysplasia |
|
Short humerus, Short metacarpal, Radial bowing, Short femur, Bowed humerus, Micromelia, Micrognat... |
OMIM:211350 |
| Robinow Syndrome, Autosomal Recessive 2 |
|
Broad hallux, Sandal gap, Micrognathia, Mesomelia, Prominent fingertip pads, Clinodactyly, Broad ... |
OMIM:618529 |
| Microcephalic Primordial Dwarfism, Dauber Type |
|
Abnormal carpal morphology, Limb undergrowth, Severe intrauterine growth retardation, Clinodactyl... |
ORPHA:319675 |
| Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Wide distal femoral metaphysis, Metaphyseal cupping, Short ribs, Micromelia |
OMIM:613320 |
| Acrofrontofacionasal Dysostosis |
|
Camptodactyly of finger, Micromelia, Short distal phalanx of finger, Broad thumb, Brachydactyly |
ORPHA:1784 |
| Superficial Siderosis |
|
Abnormal bleeding, Subarachnoid hemorrhage, Abnormal vertebral artery morphology, Arteriovenous m... |
ORPHA:247245 |
| Schneckenbecken Dysplasia |
|
Hypoplastic scapulae, Increased fibular diameter, Dumbbell-shaped long bone, Micromelia, Polyhydr... |
ORPHA:3144 |
| Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Proximal placement of thumb, Micrognathia, Short metatarsal, Hand monodactyly, Patellar hypoplasi... |
OMIM:609945 |
| Developmental Malformations-Deafness-Dystonia Syndrome |
|
Hypoplastic scapulae, Femoral retroversion, Micromelia |
ORPHA:79107 |
| Pycnodysostosis |
|
Rhizomelia, Micrognathia, Acromelia, Small hand, Short foot, Osteolytic defects of the distal pha... |
ORPHA:763 |
| Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans |
|
Rhizomelia, Breech presentation, Tibial bowing, Femoral bowing, Mesomelia, Neonatal death |
OMIM:616482 |
| Combined Oxidative Phosphorylation Deficiency 25 |
|
Intraventricular hemorrhage |
OMIM:616430 |
| Gm1-Gangliosidosis, Type Ii |
|
Hypoplastic vertebral bodies, Limb undergrowth, Premature birth, Coxa valga |
OMIM:230600 |
| Koolen-De Vries Syndrome Due To A Point Mutation |
|
Joint laxity, Craniosynostosis, Spina bifida, Intraventricular hemorrhage, Hydrocephalus, Cardiom... |
ORPHA:363965 |
| 17Q21.31 Microdeletion Syndrome |
|
Joint laxity, Craniosynostosis, Spina bifida, Intraventricular hemorrhage, Hydrocephalus, Cardiom... |
ORPHA:363958 |
| Campomelia, Cumming Type |
|
Bowing of the long bones, Micromelia, Hydrops fetalis, Clubbing of toes, Oligohydramnios, Brachyd... |
ORPHA:1318 |
| Roberts Syndrome |
|
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Brachydactyly, Bowing of the long bones, Sand... |
ORPHA:3103 |
| Pallister-Hall Syndrome |
|
Syndactyly, Mesoaxial foot polydactyly, Toe syndactyly, Mesoaxial hand polydactyly, Cryptorchidis... |
OMIM:146510 |
| Viss Syndrome |
|
Tortuous cerebral arteries, Epidural hemorrhage, Micrognathia, Generalized joint laxity, Joint la... |
OMIM:619472 |
| 3M Syndrome |
|
Hypoplasia of the ulna, Rocker bottom foot, Micromelia, Clinodactyly of the 5th finger, Intrauter... |
ORPHA:2616 |
| Geleophysic Dysplasia 3 |
|
Premature birth, Polyhydramnios, Short foot, Limb undergrowth, Brachydactyly |
OMIM:617809 |
| Chondrodysplasia-Difference Of Sex Development Syndrome |
|
Intrauterine growth retardation, Short metacarpal, Short phalanx of finger, Micromelia |
ORPHA:1422 |
| Short-Rib Thoracic Dysplasia 14 With Polydactyly |
|
Aplastic clavicle, Micromelia, Postaxial polydactyly, Polyhydramnios, Preaxial polydactyly, Anenc... |
OMIM:616546 |
| Bartsocas-Papas Syndrome 1 |
|
Syndactyly, Short metacarpal, Hypoplastic scapulae, Decreased fetal movement, Micrognathia, Absen... |
OMIM:263650 |
| Osteogenesis Imperfecta, Type Xvi |
|
Microretrognathia, Angulated humerus, Bowing of the long bones, Rhizomelia, Mesomelia |
OMIM:616229 |
| Developmental And Epileptic Encephalopathy 89 |
|
Microretrognathia, Limb undergrowth, Talipes equinovarus, Neonatal death |
OMIM:619124 |
| Orofaciodigital Syndrome Type 2 |
|
Finger syndactyly, Broad hallux, Micrognathia, Short tibia, Adactyly, Broad first metatarsal, Pos... |
ORPHA:2751 |
| Congenital Disorder Of Glycosylation With Defective Fucosylation 1 |
|
Limb undergrowth, Intrauterine growth retardation, Polyhydramnios |
OMIM:618005 |
| Fibrochondrogenesis |
|
Hypoplastic scapulae, Camptodactyly of finger, Micromelia, Abnormal diaphysis morphology, Short r... |
ORPHA:2021 |
| Tbck-Related Intellectual Disability Syndrome |
|
11 pairs of ribs, Broad toe, Cryptorchidism, 2-3 toe syndactyly, Broad finger, Limb undergrowth, ... |
ORPHA:488632 |
| Robin Sequence With Cleft Mandible And Limb Anomalies |
|
Microretrognathia, Radial deviation of the hand, Short metacarpal, Proximal placement of thumb, M... |
OMIM:268305 |
| Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Micromelia, Micrognathia, Preaxial polydactyly, Femoral bowing, Short metacarpal, Short thumb, Cr... |
OMIM:210710 |
| Riddle Syndrome |
|
Conjunctival telangiectasia, Arthritis, Intraventricular hemorrhage, Telangiectasia |
ORPHA:420741 |
| Short Stature, Microcephaly, And Endocrine Dysfunction |
|
Limb undergrowth, Cryptorchidism, Clinodactyly, Intrauterine growth retardation |
OMIM:616541 |
| Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly |
|
Syndactyly, Sandal gap, Broad hallux, Micromelia, Brachydactyly |
OMIM:614800 |
| Nivelon-Nivelon-Mabille Syndrome |
|
Short metacarpal, Short phalanx of finger, Micromelia, Brachydactyly |
OMIM:600092 |
| Acute Liver Failure |
|
Abnormal bleeding, Gastrointestinal hemorrhage, Shock, Intracranial hemorrhage, Prolonged prothro... |
ORPHA:90062 |
| Nelson Syndrome |
|
Intracranial hemorrhage, Hypertension |
ORPHA:199244 |
| Osteogenesis Imperfecta, Type X |
|
Bowing of the long bones, Short femur, Rhizomelia, Micromelia, Micrognathia, Tibial bowing, Genu ... |
OMIM:613848 |
| Autosomal Recessive Robinow Syndrome |
|
Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Brachydactyly, Sandal gap, Camptodactyly... |
ORPHA:1507 |
| Spondyloepimetaphyseal Dysplasia, Sponastrime Type |
|
Brachydactyly, Rhizomelia, Flat capital femoral epiphysis, Metaphyseal widening, Coxa vara, Genu ... |
OMIM:271510 |
| Sponastrime Dysplasia |
|
Rhizomelia, Flat capital femoral epiphysis, Avascular necrosis of the capital femoral epiphysis, ... |
ORPHA:93357 |
| Witteveen-Kolk Syndrome |
|
Joint laxity, Microretrognathia, Branchial fistula, Contracture of the distal interphalangeal joi... |
OMIM:613406 |
| Neu-Laxova Syndrome |
|
Decreased fetal movement, Polyhydramnios, Micromelia, Spina bifida, Micrognathia, Large hands, In... |
ORPHA:2671 |
| Leukocyte Adhesion Deficiency Type Ii |
|
Limb undergrowth, Umbilical hernia, Overlapping toe, Intrauterine growth retardation |
ORPHA:99843 |
| Spondyloenchondrodysplasia |
|
Limb undergrowth, Metaphyseal dysplasia, Short distal phalanx of finger, Bowing of the legs |
ORPHA:1855 |
| Microcephalic Osteodysplastic Primordial Dwarfism Type Ii |
|
Micromelia, Coxa vara, Clinodactyly of the 5th finger, Intrauterine growth retardation, Abnormal ... |
ORPHA:2637 |
| Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome |
|
Patent ductus arteriosus, Cerebral hemorrhage, Reduced bone mineral density |
OMIM:616682 |
| Meningioma |
|
Hydrocephalus, Syncope, Cerebral hemorrhage |
ORPHA:2495 |
| Schwartz-Jampel Syndrome |
|
Bowing of the long bones, Prenatal movement abnormality, Micromelia, Coxa valga, Micrognathia, Po... |
ORPHA:800 |
| Ulbright-Hodes Syndrome |
|
Short humerus, Short metacarpal, Micrognathia, Cryptorchidism, Humeroradial synostosis, Hypoplasi... |
ORPHA:3404 |
| Dysostosis, Stanescu Type |
|
Bowing of the long bones, Abnormal metaphysis morphology, Micromelia, Brachydactyly |
ORPHA:1798 |
| Cornelia De Lange Syndrome 1 |
|
Micromelia, Micrognathia, Proximal placement of thumb, Cryptorchidism, Hypoplasia of the radius, ... |
OMIM:122470 |
| Robinow Syndrome |
|
Syndactyly, Brachydactyly, Micrognathia, Bifid distal phalanx of the thumb, Missing ribs, Cryptor... |
ORPHA:97360 |
| Spondyloepimetaphyseal Dysplasia, Krakow Type |
|
Rhizomelia, 2-3 toe syndactyly, Mesomelia, Clinodactyly of the 5th finger, Metaphyseal irregulari... |
OMIM:618162 |
| Robinow Syndrome, Autosomal Dominant 1 |
|
Broad toe, Brachydactyly, Rhizomelia, Micrognathia, Cryptorchidism, Small hand, Mesomelia, Broad ... |
OMIM:180700 |
| Brain Small Vessel Disease 1 With Or Without Ocular Anomalies |
|
Dilation of Virchow-Robin spaces, Cerebral hemorrhage, Retinal arteriolar tortuosity, Hydrocephal... |
OMIM:175780 |
| Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii |
|
Thickened nuchal skin fold, Abnormal distal phalanx morphology of finger, Premature birth, Microm... |
ORPHA:2636 |
| Radio-Renal Syndrome |
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Micromelia, Micrognathia, Hypoplasia of the radius, Short palm, Brachydactyly |
ORPHA:3015 |
| Infantile Systemic Hyalinosis |
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Brachydactyly, Camptodactyly of finger, Micromelia, Short palm |
ORPHA:2176 |
| Desmosterolosis |
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Metatarsus adductus, Intrauterine growth retardation, Micromelia, Micrognathia |
ORPHA:35107 |
| Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
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Preaxial hand polydactyly, Postaxial hand polydactyly, Hydrops fetalis, Disproportionate shorteni... |
OMIM:263520 |
| Camptodactyly Syndrome, Guadalajara Type 3 |
|
Small hand, Short foot, Spina bifida occulta, Broad femoral neck, Distal shortening of limbs |
ORPHA:488434 |
| Robinow Syndrome, Autosomal Dominant 3 |
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Syndactyly, Micrognathia, Cryptorchidism, Mesomelia, Clinodactyly, Short phalanx of finger, Broad... |
OMIM:616894 |
| Smith-Lemli-Opitz Syndrome |
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Finger syndactyly, Rhizomelia, Proximal placement of thumb, Micrognathia, Polyhydramnios, Cryptor... |
ORPHA:818 |
| Sacral Defect With Anterior Meningocele |
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Myeloschisis, Myelomeningocele, Meningocele, Hydrocephalus, Dermal sinus tract |
OMIM:600145 |
| Apert Syndrome |
|
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Micromelia, Broad thumb |
ORPHA:87 |
| Autosomal Dominant Robinow Syndrome |
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Finger syndactyly, Camptodactyly of finger, Micromelia, Micrognathia, Coxa valga, Avascular necro... |
ORPHA:3107 |
| Ellis Van Creveld Syndrome |
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Micromelia, Capitate-hamate fusion, Cryptorchidism, Genu valgum, Hand polydactyly, Foot polydacty... |
ORPHA:289 |
| Raine Syndrome |
|
Bowing of the long bones, Micromelia, Micrognathia, Neonatal death, Long hallux, Brachydactyly |
OMIM:259775 |
| Orofaciodigital Syndrome Type 4 |
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Finger syndactyly, Monorchism, Camptodactyly of finger, Micromelia, Micrognathia, Preaxial hand p... |
ORPHA:2753 |
| Acute Transverse Myelitis |
|
Hypertension, Orthostatic hypotension, Subarachnoid hemorrhage |
ORPHA:139417 |
| Familial Cerebral Cavernous Malformation |
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Venous malformation, Cerebral hemorrhage |
ORPHA:221061 |
| Chromosome 14Q11-Q22 Deletion Syndrome |
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Unilateral cryptorchidism, Micrognathia, Bilateral cryptorchidism, Cryptorchidism, Mesomelia |
OMIM:613457 |
| Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type |
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Short metacarpal, Micromelia, Bowing of the legs, Micrognathia, Hypoplasia of the odontoid proces... |
OMIM:271665 |
| Pyknoachondrogenesis |
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Sclerosis of skull base, Craniofacial hyperostosis, Abnormal intramembranous ossification, Poorly... |
ORPHA:3003 |
| Smith-Lemli-Opitz Syndrome |
|
Microretrognathia, Decreased fetal movement, Overlapping toe, Premature birth, Micromelia, Microg... |
OMIM:270400 |
| Stüve-Wiedemann Syndrome |
|
Bowing of the long bones, Camptodactyly of finger, Micromelia, Metaphyseal widening, Genu valgum,... |
ORPHA:3206 |
| Cranioectodermal Dysplasia 2 |
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Syndactyly, Rhizomelia, Polyhydramnios, Micrognathia, Postaxial hand polydactyly, Hydrops fetalis... |
OMIM:613610 |
| Kinsship Syndrome |
|
Coxa valga, Micrognathia, Fibular hypoplasia, Polydactyly, Mesomelia, Dislocated radial head |
OMIM:619297 |
| 8Q24.3 Microdeletion Syndrome |
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Branchial cyst, Microretrognathia, Long toe, Short femur, Rocker bottom foot, Short hallux, Micro... |
ORPHA:508488 |
| Slc39A8-Cdg |
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Limb undergrowth, Cutaneous syndactyly of toes |
ORPHA:468699 |
| Peters Plus Syndrome |
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Decreased fetal movement, Toe syndactyly, Rhizomelia, Micromelia, Micrognathia, Polyhydramnios, C... |
ORPHA:709 |
| Pmm2-Cdg |
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Osteopenia, Joint laxity, Pericarditis, Multiple joint contractures, Angina pectoris, Mandibular ... |
ORPHA:79318 |
| Cornelia De Lange Syndrome |
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Toe syndactyly, Premature birth, Abnormal morphology of ulna, Micromelia, Micrognathia, Proximal ... |
ORPHA:199 |
| Osteogenesis Imperfecta, Type Vii |
|
Rhizomelia, Femoral retroversion, Micromelia, Bowing of the legs, Breech presentation, Coxa vara |
OMIM:610682 |
| Acrocephalopolydactylous Dysplasia |
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Postaxial hand polydactyly, Micromelia |
OMIM:200995 |
| C Syndrome |
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Toe syndactyly, Micromelia, Micrognathia, Polyhydramnios, Cryptorchidism, Hand polydactyly, Clino... |
ORPHA:1308 |
| Short Rib-Polydactyly Syndrome, Verma-Naumoff Type |
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Micromelia, Micrognathia, Preaxial hand polydactyly, Postaxial hand polydactyly, Cryptorchidism, ... |
ORPHA:93271 |
| Dihydropyrimidine Dehydrogenase Deficiency |
|
Micromelia |
ORPHA:1675 |
| Wilson-Turner Syndrome |
|
Tapered finger, Micrognathia, Cryptorchidism, Small hand, Short foot |
ORPHA:3459 |
| Cornelia De Lange Syndrome 5 |
|
Toe syndactyly, Proximal placement of thumb, Micrognathia, Cryptorchidism, Small hand, Short foot... |
OMIM:300882 |
