| Melkersson-Rosenthal Syndrome |
|
Facial edema, Furrowed tongue |
OMIM:155900 |
| Angioedema, Hereditary, 6 |
|
Facial edema, Angioedema, Edema of the dorsum of hands, Swollen lip |
OMIM:619363 |
| Mucus Inspissation Of Respiratory Tract |
|
Recurrent respiratory infections, Atelectasis, Chronic pulmonary obstruction, Bronchiectasis, Chr... |
OMIM:253240 |
| Bronchopulmonary Dysplasia |
|
Respiratory distress, Central apnea, Respiratory failure requiring assisted ventilation, Cough, A... |
ORPHA:70589 |
| Ciliary Dyskinesia, Primary, 47, And Lissencephaly |
|
Respiratory distress, Recurrent respiratory infections, Abnormal mucociliary clearance, Atelectas... |
OMIM:619466 |
| Ciliary Dyskinesia, Primary, 21 |
|
Neonatal respiratory distress, Atelectasis, Recurrent pneumonia, Bronchiectasis, Decreased nasal ... |
OMIM:615294 |
| Tongue, Pigmented Fungiform Papillae Of |
|
Abnormality of the tongue |
OMIM:275250 |
| Ciliary Dyskinesia, Primary, 29 |
|
Recurrent respiratory infections, Atelectasis, Decreased nasal nitric oxide, Bronchiectasis, Cili... |
OMIM:615872 |
| Respiratory Distress Syndrome In Premature Infants |
|
Respiratory distress, Neonatal respiratory distress, Atelectasis, Dyspnea, Tachypnea, Pulmonary e... |
OMIM:267450 |
| Asbestos Intoxication |
|
Reduced forced vital capacity, Nonproductive cough, Diffuse reticular or finely nodular infiltrat... |
ORPHA:2302 |
| Lipedema |
|
Edema |
OMIM:614103 |
| Ciliary Dyskinesia, Primary, 33 |
|
Atelectasis, Recurrent pneumonia, Bronchiectasis, Ciliary dyskinesia, Chronic rhinitis, Cough, Re... |
OMIM:616726 |
| Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness |
|
Atelectasis, Chronic sinusitis, Recurrent bronchitis |
OMIM:300455 |
| Acute Interstitial Pneumonia |
|
Nodular pattern on pulmonary HRCT, Crackles, Elevated circulating C-reactive protein concentratio... |
ORPHA:79126 |
| Familial Nasal Acilia |
|
Respiratory distress, Atelectasis, Dyspnea, Recurrent upper respiratory tract infections, Bronchi... |
ORPHA:922 |
| Recurrent Respiratory Papillomatosis |
|
Respiratory distress, Atelectasis, Abnormal lung morphology, Recurrent upper respiratory tract in... |
ORPHA:60032 |
| Immunodeficiency 95 |
|
Respiratory distress, Recurrent respiratory infections, Ground-glass opacification, Respiratory f... |
OMIM:619773 |
| Infant Acute Respiratory Distress Syndrome |
|
Cyanosis, Pneumonia, Respiratory tract infection, Atelectasis, Nasal flaring, Tachypnea, Hypoxemi... |
ORPHA:70587 |
| Meconium Aspiration Syndrome |
|
Respiratory distress, Abnormal pulmonary thoracic imaging finding, Maternal diabetes, Atelectasis... |
ORPHA:70588 |
| Poirier-Bienvenu Neurodevelopmental Syndrome |
|
Downturned corners of mouth, Open mouth, Smooth philtrum, Protruding tongue |
OMIM:618732 |
| Angioedema, Hereditary, 5 |
|
Facial edema, Angioedema, Edema of the dorsum of hands, Swollen lip |
OMIM:619361 |
| Surfactant Metabolism Dysfunction, Pulmonary, 3 |
|
Respiratory distress, Crazy paving pattern, Apnea, Nodular pattern on pulmonary HRCT, Tachypnea, ... |
OMIM:610921 |
| Idiopathic Chronic Eosinophilic Pneumonia |
|
Abnormal pulmonary thoracic imaging finding, Crackles, Elevated circulating C-reactive protein co... |
ORPHA:2902 |
| Surfactant Metabolism Dysfunction, Pulmonary, 1 |
|
Death in infancy, Neonatal respiratory distress, Cyanosis, Apnea, Ground-glass opacification, Dys... |
OMIM:265120 |
| Interstitial Pneumonitis, Desquamative, Familial |
|
Respiratory distress, Cyanosis, Type II pneumocyte hypertrophy, Desquamative interstitial pneumon... |
OMIM:263000 |
| Pulmonary Nodular Lymphoid Hyperplasia |
|
Dyspnea, Ground-glass opacification, Nodular pattern on pulmonary HRCT, Cough |
ORPHA:60026 |
| Spinal Muscular Atrophy, Type I |
|
Recurrent respiratory infections, Respiratory failure, Respiratory insufficiency, Death in childhood |
OMIM:253300 |
| Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction |
|
Respiratory distress, Recurrent respiratory infections, Neonatal respiratory distress, Crackles, ... |
OMIM:610978 |
| Renal Hypodysplasia/Aplasia 4 |
|
Respiratory failure, Pulmonary hypoplasia |
OMIM:619887 |
| Pulmonary Blastoma |
|
Pleuropulmonary blastoma, Dyspnea, Recurrent pneumonia, Pulmonary infiltrates, Cough |
ORPHA:64741 |
| Tracheobronchopathia Osteochondroplastica |
|
Recurrent respiratory infections, Pneumonia, Bronchitis, Productive cough, Atelectasis, Wheezing,... |
ORPHA:3348 |
| Emphysema, Hereditary Pulmonary |
|
Emphysema, Chronic pulmonary obstruction, Chronic bronchitis |
OMIM:130700 |
| Surfactant Metabolism Dysfunction, Pulmonary, 2 |
|
Respiratory distress, Reduced forced vital capacity, Tachypnea, Cough, Decreased DLCO, Bronchiect... |
OMIM:610913 |
| Angioedema, Hereditary, 8 |
|
Edema of the dorsum of hands, Facial edema, Laryngeal edema, Angioedema, Swollen lip |
OMIM:619367 |
| Muscular Hypertonia, Lethal |
|
Respiratory distress, Death in infancy, Pneumonia |
OMIM:254120 |
| Pulmonary Alveolar Proteinosis, Acquired |
|
Recurrent respiratory infections, Lung abscess, Cyanosis, Pneumonia, Dyspnea, Intraalveolar phosp... |
OMIM:610910 |
| Congenital Lobar Emphysema |
|
Respiratory distress, Emphysema |
ORPHA:1928 |
| Hereditary Motor And Sensory Neuropathy, Okinawa Type |
|
Respiratory failure requiring assisted ventilation, Elevated circulating creatine kinase concentr... |
ORPHA:90117 |
| C1Q Deficiency 2 |
|
Elevated circulating C-reactive protein concentration, Atelectasis, Bronchiectasis, Facial erythe... |
OMIM:620321 |
| Cryptogenic Organizing Pneumonia |
|
Respiratory distress, Bronchial breath sound, Cyanosis, Crackles, Ground-glass opacification, Ele... |
ORPHA:1302 |
| Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome |
|
Ground-glass opacification, Respiratory tract infection, Hypersensitivity pneumonitis, Nonproduct... |
ORPHA:79127 |
| Isolated Congenital Hypoglossia/Aglossia |
|
Respiratory distress, Dyspnea, Upper airway obstruction, Aspiration pneumonia |
ORPHA:141152 |
| Kaposi Sarcoma, Susceptibility To |
|
Edema |
OMIM:148000 |
| Hereditary Pulmonary Alveolar Proteinosis |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Abnormal circulating pr... |
ORPHA:264675 |
| Plectin-Related Limb-Girdle Muscular Dystrophy R17 |
|
Elevated circulating creatine kinase concentration, Atelectasis, Pulmonary fibrosis, Bronchioliti... |
ORPHA:254361 |
| Pneumocystosis |
|
Multiple pulmonary cysts, Respiratory failure requiring assisted ventilation, Nonproductive cough... |
ORPHA:723 |
| High Altitude Pulmonary Edema |
|
Orthopnea, Cyanosis, Crackles, Dyspnea, Tachypnea, Hypoxemia, Cough, Pulmonary opacity, Pulmonary... |
ORPHA:330012 |
| Bronchogenic Cyst |
|
Abnormal pulmonary thoracic imaging finding, Pulmonary cyst, Pneumonia, Abnormal pleura morpholog... |
ORPHA:2357 |
| Pleural Mesothelioma |
|
Respiratory distress, Abnormal pleura morphology, Dyspnea, Abnormal lung morphology, Abnormal res... |
ORPHA:50251 |
| Bronchiolitis Obliterans With Obstructive Pulmonary Disease |
|
Pneumonia, Reduced forced expiratory volume in one second, Respiratory tract infection, Dyspnea, ... |
ORPHA:1303 |
| Acute Lung Injury |
|
Respiratory distress, Pneumonia, Elevated circulating C-reactive protein concentration, Diffuse a... |
ORPHA:178320 |
| Pierre Robin Syndrome |
|
Glossoptosis, Pierre-Robin sequence, Cleft palate |
OMIM:261800 |
| Severe Acute Respiratory Syndrome |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Diabetes mellitus, Dysp... |
ORPHA:140896 |
| Lymphatic Malformation 11 |
|
Pedal edema, Lymphedema |
OMIM:619401 |
| Waardenburg Syndrome Type 3 |
|
Tracheomalacia, Atelectasis, Acrocyanosis |
ORPHA:896 |
| Idiopathic Bronchiectasis |
|
Crackles, Productive cough, Respiratory tract infection, Dyspnea, Wheezing, Emphysema, Bronchiect... |
ORPHA:60033 |
| Staphylococcal Necrotizing Pneumonia |
|
Respiratory distress, Diabetes mellitus, Pneumonia, Elevated circulating C-reactive protein conce... |
ORPHA:36238 |
| Idiopathic Acute Eosinophilic Pneumonia |
|
Abnormal pleura morphology, Respiratory insufficiency, Pulmonary infiltrates, Restrictive ventila... |
ORPHA:724 |
| Autoimmune Pulmonary Alveolar Proteinosis |
|
Abnormal circulating protein concentration, Cyanosis, Crazy paving pattern, Crackles, Dyspnea, In... |
ORPHA:747 |
| Congenital Pulmonary Airway Malformation |
|
Respiratory insufficiency, Abnormal pleura morphology |
ORPHA:2444 |
| Congenital Myopathy 21 With Early Respiratory Failure |
|
Elevated circulating creatine kinase concentration, Dyspnea, Lipoid pneumonia, Respiratory failur... |
OMIM:620326 |
| Surfactant Metabolism Dysfunction, Pulmonary, 5 |
|
Ground-glass opacification, Dyspnea, Intraalveolar phospholipid accumulation, Respiratory insuffi... |
OMIM:614370 |
| Alpha-1-Antitrypsin Deficiency |
|
Chronic bronchitis, Dyspnea, Panacinar emphysema, Chronic pulmonary obstruction, Wheezing, Bronch... |
OMIM:613490 |
| Interstitial Lung Disease 1 |
|
Nonspecific interstitial pneumonia, Crackles, Intralobular septal thickening, Cough, Dyspnea, Gro... |
OMIM:619611 |
| Myotubular Myopathy With Abnormal Genital Development |
|
Respiratory distress, Atelectasis, Neonatal death, Death in infancy |
OMIM:300219 |
| Ophthalmoplegia, Progressive, With Scrotal Tongue And Mental Deficiency |
|
Furrowed tongue |
OMIM:165150 |
| Isolated Pierre Robin Syndrome |
|
Glossoptosis, Cleft palate |
ORPHA:718 |
| Laryngotracheoesophageal Cleft |
|
Recurrent respiratory infections, Neonatal respiratory distress, Cyanosis, Dyspnea, Stridor, Coug... |
ORPHA:2004 |
| Ciliary Dyskinesia, Primary, 5 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Nasal polyposis, Recurrent pneum... |
OMIM:608647 |
| Primary Ciliary Dyskinesia |
|
Recurrent sinopulmonary infections, Neonatal respiratory distress, Nasal polyposis, Peribronchova... |
ORPHA:244 |
| Combined Oxidative Phosphorylation Deficiency 51 |
|
Neonatal respiratory distress, Respiratory failure, Aspiration pneumonia |
OMIM:619057 |
| 9q subtelomeric deletion syndrome |
|
Protruding tongue |
DECIPHER:52 |
| Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea |
|
Crackles, Ground-glass opacification, Atelectasis, Dyspnea, Asthma, Wheezing, Abnormal pulmonary ... |
OMIM:620233 |
| Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset |
|
Respiratory insufficiency due to muscle weakness, Respiratory failure, Elevated circulating creat... |
OMIM:300717 |
| Glycine Encephalopathy 2 |
|
Respiratory failure, Nonketotic hyperglycinemia |
OMIM:620398 |
| Autoimmune Interstitial Lung, Joint, And Kidney Disease |
|
Elevated circulating C-reactive protein concentration, Dyspnea, Tachypnea, Abnormal pulmonary int... |
OMIM:616414 |
| Pulmonary Venoocclusive Disease 2, Autosomal Recessive |
|
Pulmonary venous occlusion, Dyspnea, Pulmonary capillary hemangiomatosis, Centrilobular ground-gl... |
OMIM:234810 |
| Pulmonary Non-Tuberculous Mycobacterial Infection |
|
Respiratory distress, Crackles, Dyspnea, Pneumothorax, Chronic pulmonary obstruction, Bronchiecta... |
ORPHA:411703 |
| Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related |
|
Death in infancy, Apnea, Elevated circulating creatine kinase concentration, Respiratory insuffic... |
OMIM:613869 |
| Primary Pulmonary Hypoplasia |
|
Recurrent respiratory infections, Neonatal respiratory distress, Cyanosis, Apnea, Asthma, Pneumot... |
ORPHA:2257 |
| Interstitial Lung Disease 2 |
|
Dyspnea, Alveolar cell carcinoma, Elevated bronchoalveolar lavage fluid neutrophil proportion, Pu... |
OMIM:178500 |
| Krabbe Disease, Atypical, Due To Saposin A Deficiency |
|
Central apnea, Death in infancy, Respiratory failure, Respiratory insufficiency |
OMIM:611722 |
| Idiopathic Pulmonary Fibrosis |
|
Crackles, Ground-glass opacification, Bronchiectasis, Abnormal pulmonary interstitial morphology,... |
ORPHA:2032 |
| Avian Influenza |
|
Respiratory distress, Miscarriage, Pneumonia, Elevated circulating creatine kinase concentration,... |
ORPHA:454836 |
| Gaucher Disease Type 2 |
|
Respiratory distress, Recurrent respiratory infections, Abnormal pattern of respiration, Cough |
ORPHA:77260 |
| Idiopathic Pulmonary Hemosiderosis |
|
Crackles, Nodular pattern on pulmonary HRCT, Diffuse alveolar hemorrhage, Dyspnea, Ground-glass o... |
ORPHA:99931 |
| Phosphoserine Aminotransferase Deficiency |
|
Death in infancy, Apnea, Hypoglycinemia, Hyposerinemia, Cyanotic episode |
OMIM:610992 |
| Allergic Bronchopulmonary Aspergillosis |
|
Asthma, Bronchiectasis, Respiratory insufficiency, Cough, Pulmonary arterial hypertension, Emphysema |
ORPHA:1164 |
| Congenital Pulmonary Lymphangiectasia |
|
Respiratory distress, Cyanosis, Chronic pulmonary obstruction, Cough, Pulmonary arterial hyperten... |
ORPHA:2414 |
| Ciliary Dyskinesia, Primary, 1 |
|
Nasal polyposis, Pneumonia, Absent outer dynein arms, Atelectasis, Bronchiectasis, Immotile cilia... |
OMIM:244400 |
| Pulmonary Capillary Hemangiomatosis |
|
Pulmonary edema, Cyanosis, Diffuse alveolar hemorrhage, Ground-glass opacification, Pulmonary cap... |
ORPHA:199241 |
| Pierre Robin Sequence With Facial And Digital Anomalies |
|
Glossoptosis, Pierre-Robin sequence, Cleft palate |
OMIM:311895 |
| Adult Acute Respiratory Distress Syndrome |
|
Pneumonia, Dyspnea, Pulmonary infiltrates, Hypoxemia, Diabetic ketoacidosis, Respiratory failure,... |
ORPHA:70578 |
| Bardet-Biedl Syndrome 16 |
|
Bronchiolitis, Recurrent respiratory infections, Respiratory distress |
OMIM:615993 |
| Ring Chromosome 22 Syndrome |
|
Edema, Lymphedema, Protruding tongue, Thick vermilion border, Pleural effusion |
ORPHA:1446 |
| Niemann-Pick Disease, Type B |
|
Recurrent respiratory infections, Decreased HDL cholesterol concentration, Hypertriglyceridemia, ... |
OMIM:607616 |
| Autoinflammation With Pulmonary And Cutaneous Vasculitis |
|
Recurrent upper respiratory tract infections, Restrictive ventilatory defect, Interstitial pneumo... |
OMIM:620296 |
| Chronic Pneumonitis Of Infancy |
|
Respiratory distress, Cyanosis, Intercostal retractions, Ground-glass opacification, Reduced forc... |
ORPHA:91359 |
| Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A |
|
Reduced vital capacity, Elevated circulating creatine kinase concentration, Abnormal respiratory ... |
ORPHA:266 |
| Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4B |
|
Neonatal death, Apnea, Pulmonary hypoplasia |
OMIM:615228 |
| Pulmonary Hemosiderosis |
|
Recurrent intrapulmonary hemorrhage, Transient pulmonary infiltrates, Pulmonary fibrosis, Respira... |
OMIM:178550 |
| Sarcoidosis, Susceptibility To, 2 |
|
Dyspnea, Pneumothorax, Bronchiectasis, Abnormal pulmonary interstitial morphology, Pulmonary infi... |
OMIM:612387 |
| Surfactant Metabolism Dysfunction, Pulmonary, 4 |
|
Reduced forced expiratory volume in one second, Reduced forced vital capacity, Ground-glass opaci... |
OMIM:300770 |
| Pulmonary Alveolar Microlithiasis |
|
Bronchitis, Nonproductive cough, Tachypnea, Increased circulating surfactant protein level, Oxyge... |
ORPHA:60025 |
| Perching Syndrome |
|
Respiratory distress, Cyanosis |
OMIM:617055 |
| Cleft Palate With Or Without Ankyloglossia, X-Linked |
|
Ankyloglossia, Bifid uvula, Cleft palate |
OMIM:303400 |
| Chronic Beryllium Disease |
|
Lymphocytic interstitial pneumonia, Ground-glass opacification, Hypersensitivity pneumonitis, Dys... |
ORPHA:133 |
| Choanal Atresia And Lymphedema |
|
Pericardial effusion, High palate, Lymphedema |
OMIM:613611 |
| Mitochondrial Dna Depletion Syndrome, Myopathic Form |
|
Respiratory distress, Respiratory insufficiency due to muscle weakness, Recurrent pneumonia, Resp... |
ORPHA:254875 |
| Pontocerebellar Hypoplasia, Type 1C |
|
Respiratory failure, Respiratory insufficiency, Death in childhood |
OMIM:616081 |
| Laryngotracheal Angioma |
|
Respiratory distress, Cyanosis, Intercostal retractions, Apnea, Wheezing, Stridor, Cough |
ORPHA:137935 |
| Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia |
|
Recurrent respiratory infections, Death in infancy, Intraalveolar phospholipid accumulation, Resp... |
OMIM:618042 |
| Congenital Diaphragmatic Hernia |
|
Hypoxemia, Pulmonary hypoplasia, Respiratory distress |
ORPHA:2140 |
| Alpha-1-Antitrypsin Deficiency |
|
Emphysema, Jaundice |
ORPHA:60 |
| Scedosporiosis |
|
Bronchial breath sound, Sinusitis, Diabetes mellitus, Pneumonia, Bronchitis, Abnormal respiratory... |
ORPHA:449280 |
| Choanal Atresia |
|
Respiratory distress, Recurrent respiratory infections, Cyanosis, Upper airway obstruction, Trach... |
ORPHA:137914 |
| Hypomyelination Neuropathy-Arthrogryposis Syndrome |
|
Respiratory distress |
ORPHA:2680 |
| Developmental And Epileptic Encephalopathy 71 |
|
Respiratory failure, Cheyne-Stokes respiration, Respiratory insufficiency |
OMIM:618328 |
| Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive |
|
Respiratory distress, Lymphocytic interstitial pneumonia |
OMIM:245590 |
| Emphysema, Congenital Lobar |
|
Respiratory distress |
OMIM:130710 |
| Epidermodysplasia Verruciformis, Susceptibility To, 4 |
|
Emphysema, Facial erythema |
OMIM:618307 |
| Spinal Muscular Atrophy With Congenital Bone Fractures 2 |
|
Neonatal respiratory distress, Pulmonary hypoplasia, Respiratory failure |
OMIM:616867 |
| Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome |
|
Respiratory insufficiency due to muscle weakness, Respiratory failure, Recurrent aspiration pneum... |
ORPHA:2590 |
| Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome |
|
Neonatal death, Bilateral lung agenesis, Respiratory insufficiency |
OMIM:601612 |
| Ciliary Dyskinesia, Primary, 2 |
|
Respiratory distress, Recurrent respiratory infections, Nasal polyposis, Sinusitis, Bronchiectasi... |
OMIM:606763 |
| Solar Urticaria |
|
Edema, Periorbital edema, Abnormal tongue morphology, Angioedema, Abnormal lip morphology |
ORPHA:97230 |
| Bare Lymphocyte Syndrome, Type I |
|
Nasal polyposis, Bronchiectasis, Bronchiolitis, Emphysema, Chronic sinusitis, Recurrent bronchitis |
OMIM:604571 |
| Seizures, Benign Familial Infantile, 3 |
|
Cyanosis, Apnea |
OMIM:607745 |
| Edema, Familial Idiopathic, Prepubertal |
|
Edema |
OMIM:129840 |
| Congenital Tracheomalacia |
|
Apnea, Tracheobronchomalacia, Cough, Emphysema, Neonatal respiratory distress, Intercostal retrac... |
ORPHA:95430 |
| Pulmonary Hypoplasia, Primary |
|
Neonatal death, Pulmonary hypoplasia |
OMIM:265430 |
| Ciliary Dyskinesia, Primary, 20 |
|
Recurrent respiratory infections, Productive cough, Absent outer dynein arms, Pulmonary artery st... |
OMIM:615067 |
| Autosomal Dominant Hyper-Ige Syndrome |
|
Atelectasis, Generalized abnormality of skin, Recurrent respiratory infections, Cough |
ORPHA:2314 |
| Cystic Hamartoma Of Lung And Kidney |
|
Recurrent respiratory infections, Pulmonary fibrosis, Respiratory insufficiency |
ORPHA:2111 |
| Congenital Myopathy 10A, Severe Variant |
|
Respiratory distress, Elevated circulating creatine kinase concentration, Respiratory insufficien... |
OMIM:614399 |
| Congenital Myopathy 14 |
|
Death in infancy, Apnea, Respiratory insufficiency due to muscle weakness, Respiratory failure, A... |
OMIM:618414 |
| Seizures, Benign Familial Infantile, 1 |
|
Cyanosis, Apnea |
OMIM:601764 |
| Slc35A1-Cdg |
|
Respiratory distress, Pneumonia, Hypoxemia, Subcutaneous hemorrhage, Pulmonary hemorrhage |
ORPHA:238459 |
| Lymphatic Malformation 2 |
|
Lymphedema |
OMIM:611944 |
| Severe X-Linked Mitochondrial Encephalomyopathy |
|
Respiratory distress, Increased serum pyruvate, Respiratory insufficiency |
ORPHA:238329 |
| X-Linked Centronuclear Myopathy |
|
Respiratory distress, Recurrent respiratory infections, Respiratory failure requiring assisted ve... |
ORPHA:596 |
| Intellectual Developmental Disorder, Autosomal Dominant 58 |
|
Dental crowding, Protruding tongue, Submucous cleft hard palate, Wide mouth, High palate, Thick v... |
OMIM:618106 |
| Down Syndrome |
|
Aganglionic megacolon, Protruding tongue, Abnormality of the dentition, Thick lower lip vermilion... |
ORPHA:870 |
| Butyrylcholinesterase Deficiency |
|
Respiratory failure requiring assisted ventilation, Respiratory failure |
ORPHA:132 |
| Larsen-Like Syndrome, Lethal Type |
|
Tracheomalacia, Neonatal death, Pulmonary hypoplasia, Respiratory insufficiency |
OMIM:245650 |
| Cutis Laxa, Neonatal, With Marfanoid Phenotype |
|
Emphysema |
OMIM:614100 |
| Lethal Osteosclerotic Bone Dysplasia |
|
Respiratory distress, Dyspnea, Respiratory failure |
ORPHA:1832 |
| Neuralgic Amyotrophy |
|
Acrocyanosis, Respiratory insufficiency |
ORPHA:2901 |
| Macular Dystrophy, Dominant Cystoid |
|
Cystoid macular edema, Edema |
OMIM:153880 |
| Coenzyme Q10 Deficiency, Primary, 8 |
|
Respiratory distress, Elevated circulating creatinine concentration, Pulmonary hypoplasia |
OMIM:616733 |
| Birt-Hogg-Dubé Syndrome |
|
Emphysema, Pneumothorax, Pulmonary sequestration |
ORPHA:122 |
| Mitochondrial Complex I Deficiency, Nuclear Type 35 |
|
Neonatal respiratory distress, Hyperprolinemia, Pulmonary arterial hypertension, Pulmonary hypopl... |
OMIM:619003 |
| Pulmonary Edema Of Mountaineers, Susceptibility To |
|
Edema, Pulmonary edema |
OMIM:178400 |
| Cutis Laxa-Marfanoid Syndrome |
|
Emphysema |
ORPHA:171719 |
| Developmental And Epileptic Encephalopathy 30 |
|
Respiratory distress, Death in infancy |
OMIM:616341 |
| Growth Retardation, Developmental Delay, And Facial Dysmorphism |
|
Protruding tongue, Alveolar ridge overgrowth, Cleft palate, Thin vermilion border, Bifid uvula |
OMIM:612938 |
| Ciliary Dyskinesia, Primary, 42 |
|
Nasal polyposis, Pneumonia, Reduced forced vital capacity, Chronic pulmonary obstruction, Bronchi... |
OMIM:618695 |
| Immunodeficiency 54 |
|
Recurrent respiratory infections, Respiratory failure, Respiratory insufficiency |
OMIM:609981 |
| Neonatal Acute Respiratory Distress Due To Sp-B Deficiency |
|
Neonatal respiratory distress, Spontaneous neonatal pneumothorax, Tachypnea, Intraalveolar phosph... |
ORPHA:217563 |
| Burning Mouth Syndrome |
|
Abnormality of taste sensation, Parageusia, Abnormality of the gingiva, Strawberry tongue, Xerost... |
ORPHA:353253 |
| Anaplastic Thyroid Carcinoma |
|
Respiratory distress, Dyspnea, Upper airway obstruction, Neoplasm of the lung, Stridor, Cough |
ORPHA:142 |
| Diffuse Alveolar Hemorrhage |
|
Respiratory failure requiring assisted ventilation, Ground-glass opacification, Dyspnea, Increase... |
ORPHA:90060 |
| Chitayat Syndrome |
|
Respiratory distress, Recurrent respiratory infections, Abnormal pulmonary interstitial morpholog... |
OMIM:617180 |
| Nephronophthisis 2 |
|
Elevated circulating creatinine concentration, Hyperkalemia, Respiratory insufficiency, Respirato... |
OMIM:602088 |
| Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15 |
|
Wide mouth, Widely spaced teeth, Protruding tongue |
ORPHA:98795 |
| Nemaline Myopathy 8 |
|
Death in infancy, Respiratory failure |
OMIM:615348 |
| Muscular Dystrophy, Congenital, 1B |
|
Respiratory failure, Elevated circulating creatine kinase concentration |
OMIM:604801 |
| Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome |
|
Respiratory distress, Cyanosis |
ORPHA:91130 |
| Hepatic Veno-Occlusive Disease |
|
Jaundice, Respiratory failure, Increased total bilirubin |
ORPHA:890 |
| Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
|
Hypoventilation, Atelectasis, Respiratory insufficiency, Pulmonary arterial hypertension, Respira... |
ORPHA:258 |
| Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Recurrent respiratory infections, Atelectasis, Tachypnea, Respiratory insufficiency, Respiratory ... |
OMIM:618278 |
| Ciliary Dyskinesia, Primary, 28 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Dynein arm defect of respiratory... |
OMIM:615505 |
| Lymphangioleiomyomatosis |
|
Recurrent respiratory infections, Atelectasis, Dyspnea, Pneumothorax, Pulmonary infiltrates, Rest... |
ORPHA:538 |
| Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome |
|
Crackles, Abnormal pleura morphology, Dyspnea, Increased circulating ferritin concentration, Rest... |
ORPHA:210136 |
| Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome |
|
Respiratory distress |
ORPHA:171703 |
| Imperforate Oropharynx-Costovertebral Anomalies Syndrome |
|
Respiratory distress, Recurrent respiratory infections, Respiratory failure, Dyspnea |
ORPHA:2759 |
| Combined Oxidative Phosphorylation Deficiency 28 |
|
Increased serum pyruvate, Respiratory failure |
OMIM:616794 |
| Acrocallosal Syndrome |
|
Downturned corners of mouth, High palate, Short philtrum, Prominent palatine ridges, Bifid uvula,... |
OMIM:200990 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6 |
|
Recurrent acute respiratory tract infection, Paradoxical respiration, Respiratory distress |
OMIM:620011 |
| Congenital Sialidosis Type 2 |
|
Ascites, Gingival overgrowth, Edema, Protruding tongue |
ORPHA:93400 |
| Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria) |
|
Death in infancy, Neonatal respiratory distress, Hypoglycemia, Respiratory insufficiency, Respira... |
OMIM:245400 |
| Bullous Dystrophy, Hereditary Macular Type |
|
Acrocyanosis, Death in childhood |
OMIM:302000 |
| Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 |
|
Macroglossia, Malabsorption, Protruding tongue |
OMIM:242860 |
| Robin Sequence-Oligodactyly Syndrome |
|
Glossoptosis, Cleft palate, Abnormality of the dentition |
ORPHA:3104 |
| Pitt-Hopkins-Like Syndrome 2 |
|
Wide mouth, Protruding tongue |
OMIM:614325 |
| Combined Oxidative Phosphorylation Deficiency 52 |
|
Death in infancy, Hypoglycemia, Elevated circulating creatine kinase concentration, Hyperamylasem... |
OMIM:619386 |
| Farber Disease |
|
Respiratory distress, Nodular pattern on pulmonary HRCT, Atelectasis, Recurrent upper respiratory... |
ORPHA:333 |
| Niemann-Pick Disease, Type C2 |
|
Death in infancy, Neonatal respiratory distress, Jaundice, Respiratory insufficiency, Death in ch... |
OMIM:607625 |
| Nipah Virus Disease |
|
Respiratory distress, Recurrent pharyngitis, Cough |
ORPHA:99825 |
| Developmental And Epileptic Encephalopathy 80 |
|
Tented upper lip vermilion, Protruding tongue, Wide mouth, High palate, Long philtrum, Smooth phi... |
OMIM:618580 |
| Ciliary Dyskinesia, Primary, 30 |
|
Recurrent respiratory infections, Nasal polyposis, Cough, Absent outer dynein arms, Asthma, Bronc... |
OMIM:616037 |
| Kleefstra Syndrome 1 |
|
Natal tooth, Protruding tongue, Persistence of primary teeth, Macroglossia, Everted lower lip ver... |
OMIM:610253 |
| Spondyloepiphyseal Dysplasia With Atlantoaxial Instability |
|
Respiratory failure |
OMIM:600561 |
| Fanconi Renotubular Syndrome 5 |
|
Hypophosphatemic rickets, Glycosuria, Pulmonary fibrosis, Hypophosphatemia, Decreased DLCO, Emphy... |
OMIM:618913 |
| Congenital Disorder Of Glycosylation, Type Iia |
|
Macrodontia, Protruding tongue, Diastema, Gingival overgrowth, Wide mouth, Thin vermilion border,... |
OMIM:212066 |
| Pontocerebellar Hypoplasia, Type 4 |
|
Death in infancy, Respiratory failure |
OMIM:225753 |
| Neurodevelopmental Disorder With Variable Motor And Language Impairment |
|
Protruding tongue, Upper eyelid edema, Everted lower lip vermilion, High palate, Open mouth, Smoo... |
OMIM:617804 |
| Stuve-Wiedemann Syndrome 2 |
|
Respiratory distress, Death in adolescence, Stillbirth, Neonatal death, Pulmonary arterial hypert... |
OMIM:619751 |
| Berry Aneurysm, Cirrhosis, Pulmonary Emphysema, And Cerebral Calcification |
|
Emphysema |
OMIM:210050 |
| Angelman Syndrome Due To A Point Mutation |
|
Wide mouth, Widely spaced teeth, Protruding tongue |
ORPHA:411511 |
| Primary Effusion Lymphoma |
|
Dyspnea, Pleural effusion |
ORPHA:48686 |
| Tracheal Agenesis |
|
Aplasia/Hypoplasia of the lungs, Respiratory insufficiency |
ORPHA:3346 |
| Icf Syndrome |
|
Macroglossia, Malabsorption, Protruding tongue |
ORPHA:2268 |
| Ceroid Lipofuscinosis, Neuronal, 10 |
|
Neonatal death, Respiratory failure, Apnea, Respiratory insufficiency |
OMIM:610127 |
| Myasthenic Syndrome, Congenital, 6, Presynaptic |
|
Respiratory distress, Respiratory insufficiency due to muscle weakness, Sudden episodic apnea, Ap... |
OMIM:254210 |
| Congenital Arthrogryposis With Anterior Horn Cell Disease |
|
Respiratory insufficiency due to muscle weakness, Respiratory failure, Neonatal death |
OMIM:611890 |
| Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency |
|
Death in infancy, Respiratory failure, Apnea |
OMIM:616277 |
| X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
|
Everted lower lip vermilion, Smooth philtrum, Protruding tongue |
ORPHA:324410 |
| Lymphatic Malformation 8 |
|
Nonimmune hydrops fetalis, Polyhydramnios, Pericardial effusion, Pleural effusion, Generalized edema |
OMIM:618773 |
| Marshall-Smith Syndrome |
|
Open mouth, Gingival overgrowth, Protruding tongue |
ORPHA:561 |
| Mercury Poisoning |
|
Respiratory distress, Dyspnea, Interstitial pneumonitis, Hypokalemia, Respiratory failure |
ORPHA:330021 |
| Tricuspid Atresia |
|
Pulmonary artery atresia, Cyanosis |
ORPHA:1209 |
| Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation |
|
Wide mouth, Gingival overgrowth, Protruding tongue |
OMIM:618797 |
| Platelet-Activating Factor Acetylhydrolase Deficiency |
|
Increased level of platelet-activating factor |
OMIM:614278 |
| Lujo Hemorrhagic Fever |
|
Respiratory distress, Crackles, Elevated circulating C-reactive protein concentration, Atelectasi... |
ORPHA:319213 |
| Angelman Syndrome |
|
Wide mouth, Macroglossia, Widely spaced teeth, Protruding tongue |
OMIM:105830 |
| Hypophosphatasia |
|
Emphysema, Hypercalcemia, Respiratory insufficiency |
ORPHA:436 |
| Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Tachypnea, Elevated circulating creatinine concentration, Hypoxemia, Respiratory failure, Hyperbi... |
ORPHA:542323 |
| Ankyloglossia With Or Without Tooth Anomalies |
|
Supernumerary tooth, Ankyloglossia |
OMIM:106280 |
| Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome |
|
Acrocyanosis |
ORPHA:86918 |
| Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9 |
|
Respiratory distress, Hyponatremia, Neonatal respiratory distress, Cyanosis, Apnea, Death in infa... |
OMIM:618426 |
| Tularemia |
|
Respiratory distress, Abnormal pulmonary thoracic imaging finding, Pneumonia, Pulmonary infiltrat... |
ORPHA:3392 |
| Idiopathic Steroid-Sensitive Nephrotic Syndrome |
|
Lymphedema |
ORPHA:69061 |
| Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 1 |
|
Crackles, Dyspnea, Premature graying of hair, Decreased DLCO, Pulmonary fibrosis, Cough, Reticula... |
OMIM:614742 |
| Hypoadrenocorticism, Familial |
|
Hyponatremia, Cyanosis, Apnea, Hypoglycemia, Hyperkalemia |
OMIM:240200 |
| Myasthenic Syndrome, Congenital, 4A, Slow-Channel |
|
Respiratory distress, Respiratory insufficiency due to muscle weakness, Sudden episodic apnea, Ap... |
OMIM:605809 |
| Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Elevated circulating cr... |
ORPHA:308552 |
| Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Decreased circulating c... |
ORPHA:254864 |
| Pulmonary Arteriovenous Malformation |
|
Cyanosis, Epistaxis, Dyspnea, Hemothorax, Telangiectasia, Hypoxemia, Pleural empyema, Cough, Pulm... |
ORPHA:2038 |
| Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Respiratory distress, Orthopnea, Elevated circulating creatine kinase concentration, Respiratory ... |
ORPHA:365 |
| Congenital Heart Block |
|
Pleural effusion, Cyanosis, Crackles |
ORPHA:60041 |
| Classic Glucose Transporter Type 1 Deficiency Syndrome |
|
Central apnea, Cyanosis |
ORPHA:71277 |
| Venular Insufficiency, Systemic |
|
Cyanosis |
OMIM:192700 |
| Sulfhemoglobinemia, Congenital |
|
Cyanosis |
OMIM:185460 |
| Microcephaly 26, Primary, Autosomal Dominant |
|
Long philtrum, Gingival overgrowth, Protruding tongue |
OMIM:619179 |
| Short Chain Acyl-Coa Dehydrogenase Deficiency |
|
Respiratory distress, Ketotic hypoglycemia, Elevated circulating acylcarnitine concentration |
ORPHA:26792 |
| Goodpasture Syndrome |
|
Cyanosis, Nodular pattern on pulmonary HRCT, Crackles, Ground-glass opacification, Increased DLCO... |
OMIM:233450 |
| Cutis Laxa, Autosomal Recessive, Type Ic |
|
Death in infancy, Progeroid facial appearance, Atelectasis, Recurrent pneumonia, Pulmonary hypopl... |
OMIM:613177 |
| Oculopharyngeal Myopathy With Leukoencephalopathy 1 |
|
Respiratory failure |
OMIM:618637 |
| Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Respiratory distress, Respiratory failure, Pulmonary hypoplasia |
OMIM:617895 |
| Methemoglobinemia, Beta Type |
|
Cyanosis |
OMIM:617971 |
| Methemoglobinemia, Alpha Type |
|
Cyanosis |
OMIM:617973 |
| Congenital Myopathy 10B, Mild Variant |
|
Elevated circulating creatine kinase concentration, Reduced forced vital capacity, Recurrent pneu... |
OMIM:620249 |
| Malaria |
|
Respiratory distress, Hyperbilirubinemia, Elevated circulating C-reactive protein concentration |
ORPHA:673 |
| Postsynaptic Congenital Myasthenic Syndromes |
|
Orthopnea, Reduced vital capacity, Cyanosis, Restrictive ventilatory defect, Respiratory failure,... |
ORPHA:98913 |
| Whim Syndrome |
|
Sinusitis, Pneumonia, Respiratory tract infection, Atelectasis, Recurrent upper respiratory tract... |
ORPHA:51636 |
| Congenital Muscular Dystrophy With Intellectual Disability |
|
Respiratory failure, Elevated circulating creatine kinase concentration, Respiratory insufficiency |
ORPHA:370968 |
| Granulomatous Disease, Chronic, X-Linked |
|
Atelectasis, Recurrent pneumonia, Air bronchogram, Cough, Pleural effusion |
OMIM:306400 |
| Juvenile Sialidosis Type 2 |
|
Gingival overgrowth, Protruding tongue |
ORPHA:93399 |
| Angelman Syndrome Due To Maternal 15Q11Q13 Deletion |
|
Wide mouth, Widely spaced teeth, Protruding tongue |
ORPHA:98794 |
| Lymphatic Malformation 12 |
|
Neonatal respiratory distress, Pleural thickening, Death in adolescence, Neonatal death, Recurren... |
OMIM:620014 |
| Brown-Vialetto-Van Laere Syndrome 1 |
|
Respiratory distress, Recurrent respiratory infections, Respiratory failure requiring assisted ve... |
OMIM:211530 |
| Mitochondrial Pyruvate Carrier Deficiency |
|
Respiratory distress, Increased serum pyruvate, Hypoglycemia |
OMIM:614741 |
| Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy |
|
Respiratory distress |
OMIM:619099 |
| Melkersson-Rosenthal Syndrome |
|
Edema, Periorbital edema, Cheilitis, Furrowed tongue, Macroglossia |
ORPHA:2483 |
| Kleefstra Syndrome Due To 9Q34 Microdeletion |
|
Downturned corners of mouth, Macroglossia, Everted lower lip vermilion, Protruding tongue |
ORPHA:96147 |
| X-Linked Dystonia-Parkinsonism |
|
Protruding tongue |
ORPHA:53351 |
| Developmental And Epileptic Encephalopathy 31B |
|
Gingival overgrowth, Protruding tongue |
OMIM:620352 |
| Lymphoid Interstitial Pneumonia |
|
Multiple pulmonary cysts, Crackles, Ground-glass opacification, Respiratory tract infection, Dysp... |
ORPHA:79128 |
| Spondylometaphyseal Dysplasia, X-Linked |
|
Respiratory failure, Respiratory insufficiency |
OMIM:313420 |
| Benign Familial Infantile Epilepsy |
|
Cyanosis, Apnea |
ORPHA:306 |
| Congenital Neuronal Ceroid Lipofuscinosis |
|
Neonatal respiratory distress, Apnea, Elevated circulating creatine kinase concentration, Respira... |
ORPHA:168486 |
| Ritscher-Schinzel Syndrome 2 |
|
Intestinal malrotation, High palate, Short philtrum, Protruding tongue |
OMIM:300963 |
| Deafness-Lymphedema-Leukemia Syndrome |
|
Recurrent respiratory infections, Respiratory failure, Bruising susceptibility |
ORPHA:3226 |
| Achondrogenesis, Type Ia |
|
Increased nuchal translucency, Hydrops fetalis, Polyhydramnios, Protruding tongue |
OMIM:200600 |
| Gm1-Gangliosidosis, Type Ii |
|
Protruding tongue, Gingival overgrowth, Narrow mouth |
OMIM:230600 |
| Riddle Syndrome |
|
Conjunctival telangiectasia, Pneumonia, Bronchitis, Elevated circulating alpha-fetoprotein concen... |
ORPHA:420741 |
| Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Respiratory distress, Hypoglycemia, Jaundice, Pulmonary hypoplasia, Glycosuria, Neonatal death, E... |
OMIM:231680 |
| Hyperekplexia 4 |
|
Respiratory failure |
OMIM:618011 |
| Combined Oxidative Phosphorylation Deficiency 30 |
|
Respiratory distress, Hyperalaninemia, Death in infancy |
OMIM:616974 |
| Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia |
|
Respiratory distress, Death in infancy, Tachypnea, Respiratory insufficiency, Respiratory failure... |
OMIM:614299 |
| Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Reduced subcutaneous adipose tissue, Hypertriglyceridemia, Insulin resistance, Hyperinsulinemia, ... |
ORPHA:363400 |
| Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Protruding tongue, Diastema, Thick lower lip vermilion, Widely-spaced maxillary central incisors,... |
OMIM:301040 |
| Succinic Acidemia |
|
Respiratory distress |
OMIM:600335 |
| Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked |
|
Respiratory distress, Respiratory insufficiency due to muscle weakness |
OMIM:300580 |
| Cardiomyopathy, Dilated, 1Gg |
|
Respiratory distress |
OMIM:613642 |
| Congenital Disorder Of Glycosylation, Type Iu |
|
Respiratory distress, Death in infancy, Neonatal respiratory distress, Elevated circulating creat... |
OMIM:615042 |
| White Sponge Nevus 2 |
|
Edema |
OMIM:615785 |
| Relapsing Polychondritis |
|
Atelectasis, Dyspnea, Erythema, Cough, Abnormal pattern of respiration, Purpura |
ORPHA:728 |
| Raine Syndrome |
|
Natal tooth, Protruding tongue, Gingival overgrowth, Cleft palate, Wide mouth, High palate, Narro... |
OMIM:259775 |
| Auriculocondylar Syndrome 2A |
|
Dental crowding, Microglossia, Dental malocclusion, Cleft palate, Mandibular condyle hypoplasia, ... |
OMIM:614669 |
| Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Increased serum pyruvate, Hyperalaninemia, Respiratory failure, Apneic episodes precipitated by i... |
OMIM:312170 |
| Congenital Tricuspid Valve Dysplasia |
|
Respiratory failure requiring assisted ventilation, Cyanosis, Tachypnea, Anomalous pulmonary veno... |
ORPHA:555874 |
| Short-Rib Thoracic Dysplasia 12 |
|
Neonatal death, Atelectasis, Pulmonary hypoplasia, Respiratory insufficiency |
OMIM:269860 |
| Arthrogryposis Multiplex Congenita 6 |
|
Neonatal death, Death in infancy, Respiratory failure, Death in childhood |
OMIM:619334 |
| Glutamine Deficiency, Congenital |
|
Hypoglutaminemia, Recurrent respiratory infections, Neonatal respiratory distress, Apnea, Erythem... |
OMIM:610015 |
| Aspergillosis |
|
Sinusitis, Pneumonia, Ground-glass opacification, Hypersensitivity pneumonitis, Dyspnea, Chronic ... |
ORPHA:1163 |
| Lymphatic Malformation 5 |
|
Facial edema, Predominantly lower limb lymphedema, Cleft palate |
OMIM:153200 |
| B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Respiratory distress, Repeated pneumothoraces, Atelectasis, Respiratory insufficiency, Restrictiv... |
ORPHA:536467 |
| Central Hypoventilation Syndrome, Congenital, 3 |
|
Respiratory failure, Apnea, Central hypoventilation |
OMIM:619483 |
| Congenital Disorder Of Glycosylation, Type Iie |
|
Protruding tongue, Thick vermilion border, Smooth philtrum, Narrow mouth |
OMIM:608779 |
| Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant |
|
Respiratory distress, Death in infancy, Respiratory failure, Chylothorax, Death in childhood |
OMIM:620278 |
| Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic |
|
Cyanosis, Apnea, Hypoglycemia, Low plasma citrulline, Fasting hypoglycemia, Impaired gluconeogenesis |
OMIM:261680 |
| Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7 |
|
Premature graying of hair, Emphysema, Pulmonary fibrosis, Type I diabetes mellitus |
OMIM:620365 |
| Leukocyte Adhesion Deficiency Type Ii |
|
Severe periodontitis, Palpebral edema, Protruding tongue, Deep philtrum, Premature loss of teeth,... |
ORPHA:99843 |
| Yellow Nail Syndrome |
|
Recurrent respiratory infections, Sinusitis, Dyspnea, Bronchiectasis, Neoplasm of the lung, Rhini... |
ORPHA:662 |
| Congenital Myasthenic Syndrome |
|
Recurrent respiratory infections, Cyanosis, Sudden episodic apnea, Intermittent episodes of respi... |
ORPHA:590 |
| Presynaptic Congenital Myasthenic Syndromes |
|
Recurrent respiratory infections, Cyanosis, Sudden episodic apnea, Intermittent episodes of respi... |
ORPHA:98914 |
| Lymphatic Malformation 7 |
|
Nonimmune hydrops fetalis, Edema, Lymphedema, Facial edema, Pericardial effusion, Increased nucha... |
OMIM:617300 |
| Blomstrand Lethal Chondrodysplasia |
|
Natal tooth, Polyhydramnios, Protruding tongue, Hydrops fetalis, Long philtrum |
ORPHA:50945 |
| Tetrasomy 5P |
|
Respiratory distress, Recurrent respiratory infections, Cyanosis, Pulmonary hypoplasia, Pulmonary... |
ORPHA:3309 |
| Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Respiratory distress, Pneumonia, Episodic tachypnea, Elevated circulating creatine kinase concent... |
ORPHA:26793 |
| Severe Congenital Nemaline Myopathy |
|
Respiratory failure, Pulmonary hypoplasia |
ORPHA:171430 |
| Angelman Syndrome |
|
Wide mouth, Widely spaced teeth, Protruding tongue |
ORPHA:72 |
| Multiple Mitochondrial Dysfunctions Syndrome 3 |
|
Respiratory failure, Hyperglycinemia, Respiratory insufficiency |
OMIM:615330 |
| Hereditary Methemoglobinemia |
|
Cyanosis, Exertional dyspnea |
ORPHA:621 |
| Congenital Tracheal Stenosis |
|
Respiratory distress, Cyanosis, Neonatal asphyxia, Abnormal lung morphology, Dyspnea, Abnormal lu... |
ORPHA:141127 |
| Radio-Renal Syndrome |
|
Respiratory distress, Dyspnea, Respiratory failure, Chylothorax, Pleural effusion |
ORPHA:3015 |
| Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Macroglossia, High, narrow palate, High palate, Protruding tongue |
OMIM:214100 |
| Carnitine-Acylcarnitine Translocase Deficiency |
|
Cyanosis, Sudden episodic apnea, Elevated circulating acylcarnitine concentration, Respiratory in... |
ORPHA:159 |
| Laryngomalacia |
|
Respiratory distress, Congenital laryngeal stridor |
OMIM:150280 |
| N-Acetylglutamate Synthase Deficiency |
|
Respiratory distress, Hyperglutamatemia, Hyperammonemia |
OMIM:237310 |
| Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures |
|
Protruding tongue |
OMIM:619580 |
| Acquired Methemoglobinemia |
|
Hypoxemia, Dyspnea, Cyanosis, Respiratory distress |
ORPHA:464453 |
| Odontochondrodysplasia 1 |
|
Respiratory distress, Recurrent respiratory infections, Pulmonary hypoplasia, Death in infancy |
OMIM:184260 |
| Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures |
|
Respiratory distress |
OMIM:617977 |
| Multiple Mitochondrial Dysfunctions Syndrome 1 |
|
Death in infancy, Respiratory insufficiency, Elevated circulating 2-hydroxybutyric acid concentra... |
OMIM:605711 |
| Eosinophilic Granulomatosis With Polyangiitis |
|
Nasal polyposis, Recurrent intrapulmonary hemorrhage, Cutis marmorata, Abnormal pleura morphology... |
ORPHA:183 |
| Proximal Spinal Muscular Atrophy |
|
Hypoventilation, Neonatal respiratory distress, Recurrent infections due to aspiration, Respirato... |
ORPHA:70 |
| Myopathy And Diabetes Mellitus |
|
Respiratory distress, Type I diabetes mellitus |
ORPHA:2596 |
| Muscular Dystrophy, Congenital, With Or Without Seizures |
|
Respiratory distress, Respiratory failure, Elevated circulating creatine kinase concentration, Ty... |
OMIM:620166 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 8 |
|
Elevated circulating acylcarnitine concentration, Tachypnea, Respiratory failure, Abnormal circul... |
OMIM:615838 |
| Obesity-Hypoventilation Syndrome |
|
Hypoventilation, Cyanosis |
OMIM:257500 |
| Zygomycosis |
|
Sinusitis, Diabetes mellitus, Epistaxis, Atelectasis, Pneumothorax, Pulmonary infiltrates, Acute ... |
ORPHA:73263 |
| Agnathia-Otocephaly Complex |
|
Respiratory distress, Pulmonary hypoplasia, Tracheomalacia |
OMIM:202650 |
| Absence Of The Pulmonary Artery |
|
Recurrent respiratory infections, Orthopnea, Cyanosis, Abnormal pulmonary thoracic imaging findin... |
ORPHA:980 |
| Tibial Muscular Dystrophy |
|
Respiratory failure, Mildly elevated creatine kinase |
ORPHA:609 |
| Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia |
|
Tongue atrophy, Tongue fasciculations |
OMIM:613435 |
| Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema |
|
Respiratory distress, Angioedema, Erythema, Upper airway obstruction, Urticaria |
ORPHA:100057 |
| Congenitally Uncorrected Transposition Of The Great Arteries |
|
Cyanosis, Maternal diabetes, Tachypnea, Anomalous pulmonary venous return, Hypoxemia |
ORPHA:860 |
| Neurodegeneration And Seizures Due To Copper Transport Defect |
|
Respiratory distress, Pneumothorax, Abnormal circulating ceruloplasmin concentration, Pulmonary h... |
OMIM:620306 |
| Joubert Syndrome 1 |
|
Macroglossia, Triangular-shaped open mouth, Protruding tongue |
OMIM:213300 |
| Congenital Multicore Myopathy With External Ophthalmoplegia |
|
Abnormal respiratory system physiology, Recurrent respiratory infections, Respiratory failure, Pn... |
ORPHA:98905 |
| Double Outlet Right Ventricle |
|
Pulmonary artery atresia, Cyanosis, Tachypnea, Hypocalcemia |
ORPHA:3426 |
| Myopathy, Myofibrillar, 9, With Early Respiratory Failure |
|
Reduced vital capacity, Respiratory failure, Elevated circulating creatine kinase concentration, ... |
OMIM:603689 |
| Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome |
|
Respiratory insufficiency due to muscle weakness, Dyspnea, Respiratory failure, Elevated circulat... |
ORPHA:352447 |
| Okur-Chung Neurodevelopmental Syndrome |
|
Thin upper lip vermilion, High palate, Polyhydramnios, Protruding tongue |
OMIM:617062 |
| Congenital Disorder Of Glycosylation, Type Iy |
|
Respiratory distress |
OMIM:300934 |
| Hereditary Bullous Dystrophy, Macular Type |
|
Acrocyanosis, Pneumonia |
ORPHA:1867 |
| Mitochondrial Complex I Deficiency, Nuclear Type 18 |
|
Death in infancy, Respiratory failure |
OMIM:618240 |
| Laryngeal Abductor Paralysis |
|
Stridor, Cyanosis |
OMIM:150260 |
| Hartnup Disorder |
|
Glossitis |
OMIM:234500 |
| Congenital Muscular Dystrophy, Ullrich Type |
|
Respiratory failure, Elevated circulating creatine kinase concentration |
ORPHA:75840 |
| Combined Oxidative Phosphorylation Defect Type 23 |
|
Stridor, Paroxysmal dyspnea, Respiratory failure, Cyanosis |
ORPHA:444013 |
| Developmental And Epileptic Encephalopathy 100 |
|
Tented upper lip vermilion, Protruding tongue, Gingival overgrowth, High palate, Microdontia, Ena... |
OMIM:619777 |
| Snakebite Envenomation |
|
Hyponatremia, Epistaxis, Angioedema, Erythema, Respiratory failure, Respiratory paralysis, Ecchym... |
ORPHA:449285 |
| Immunodeficiency 89 And Autoimmunity |
|
Pulmonary bulla, Elevated circulating C-reactive protein concentration, Pleural thickening, Asthm... |
OMIM:619632 |
| 3-Methylglutaconic Aciduria Type 7 |
|
Respiratory failure, Pneumothorax, Neonatal hypoglycemia |
ORPHA:445038 |
| Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 1 |
|
Generalized edema, Intestinal malrotation, Oligohydramnios |
OMIM:249210 |
| Brain-Lung-Thyroid Syndrome |
|
Respiratory distress, Recurrent respiratory infections, Neonatal respiratory distress, Asthma, Re... |
ORPHA:209905 |
| Benign Familial Neonatal Epilepsy |
|
Circumoral cyanosis, Apnea |
ORPHA:1949 |
| Neuromyelitis Optica Spectrum Disorder |
|
Respiratory failure |
ORPHA:71211 |
| Catel-Manzke Syndrome |
|
Glossoptosis, Oral synechia, Cleft palate |
ORPHA:1388 |
| Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Hyponatremia, Diabetes mellitus, Respiratory insufficiency, Increased blood urea nitrogen, Respir... |
OMIM:613845 |
| Autosomal Dominant Otospondylomegaepiphyseal Dysplasia |
|
Glossoptosis, Cleft palate, Long philtrum |
ORPHA:166100 |
| Intermediate Nemaline Myopathy |
|
Respiratory failure |
ORPHA:171433 |
| Bronchial Neuroendocrine Tumor |
|
Pneumonia, Nonproductive cough, Dyspnea, Asthma, Wheezing, Abnormal pulmonary interstitial morpho... |
ORPHA:97287 |
| Complete Atrioventricular Septal Defect |
|
Cyanosis, Intercostal retractions, Crackles, Wheezing, Recurrent pneumonia, Tachypnea, Elevated p... |
ORPHA:1329 |
| Atrial Septal Defect, Ostium Primum Type |
|
Recurrent respiratory infections, Cyanosis, Dyspnea, Tachypnea, Abnormal respiratory system physi... |
ORPHA:99106 |
| Neurogenic Arthrogryposis Multiplex Congenita |
|
Respiratory distress, Respiratory insufficiency due to muscle weakness, Mildly elevated creatine ... |
ORPHA:1143 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6 |
|
Respiratory failure, Elevated circulating creatine kinase concentration |
OMIM:613954 |
| Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence |
|
Submucous cleft hard palate, Posteriorly placed tongue, Pierre-Robin sequence |
OMIM:192445 |
| Leigh Syndrome |
|
Respiratory failure, Abnormal pattern of respiration, Respiratory insufficiency |
OMIM:256000 |
| Idiopathic Neonatal Atrial Flutter |
|
Respiratory distress, Tachypnea, Maternal diabetes |
ORPHA:45452 |
| Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis |
|
Respiratory distress, Pulmonary fibrosis, Elevated circulating C-reactive protein concentration |
OMIM:612852 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5 |
|
Restrictive ventilatory defect, Respiratory failure, Elevated circulating creatine kinase concent... |
OMIM:606612 |
| Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion |
|
Respiratory distress, Hypoventilation, Apnea, Recurrent pneumonia, Aspiration pneumonia |
ORPHA:314655 |
| Atrial Septal Defect, Coronary Sinus Type |
|
Cyanosis, Pneumonia, Increased pulmonary vascular resistance, Dyspnea, Anomalous pulmonary venous... |
ORPHA:99104 |
| Pomt1-Related Limb-Girdle Muscular Dystrophy R11 |
|
Respiratory distress, Dyspnea, Elevated circulating creatine kinase concentration, Cough |
ORPHA:86812 |
| Hemifacial Atrophy, Progressive |
|
Delayed eruption of teeth, Short mandibular rami, Tongue atrophy, Dental malocclusion |
OMIM:141300 |
| Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Nonketotic hypoglycemia, Death in infancy, Neonatal respiratory distress, Apnea, Elevated circula... |
OMIM:608836 |
| Combined Oxidative Phosphorylation Deficiency 4 |
|
Death in infancy, Respiratory failure, Hyperammonemia |
OMIM:610678 |
| Peroxisome Biogenesis Disorder 8A (Zellweger) |
|
Glossoptosis |
OMIM:614876 |
| Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta |
|
Recurrent respiratory infections, Cyanosis, Aortopulmonary window, Pulmonary hypoplasia, Pulmonar... |
ORPHA:99050 |
| Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2 |
|
Respiratory distress, Respiratory insufficiency due to muscle weakness |
OMIM:613561 |
| T-Cell Immunodeficiency With Thymic Aplasia |
|
Recurrent bronchopulmonary infections, Emphysema, Recurrent pneumonia, Bronchiectasis |
OMIM:242700 |
| Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
|
Cyanosis, Exertional dyspnea |
OMIM:250800 |
| Nocardiosis |
|
Respiratory distress, Pneumonia, Productive cough, Nonproductive cough, Dyspnea, Emphysema, Pneum... |
ORPHA:31204 |
| Vacterl Association With Hydrocephalus |
|
Respiratory failure, Stillbirth, Respiratory insufficiency |
OMIM:276950 |
| Mitochondrial Complex I Deficiency, Nuclear Type 10 |
|
Respiratory failure, Apnea, Central hypoventilation |
OMIM:618233 |
| Ethylene Glycol Poisoning |
|
Cyanosis, Tachypnea, Episodic respiratory distress, Hyperkalemia, Hypocalcemia, Abnormal pattern ... |
ORPHA:31826 |
| Hypocomplementemic Urticarial Vasculitis |
|
Dyspnea, Angioedema, Emphysema, Restrictive ventilatory defect, Cough, Pleural effusion, Airway o... |
ORPHA:36412 |
| Cleft Larynx, Posterior |
|
Aspiration, Cyanosis |
OMIM:215800 |
| Pontocerebellar Hypoplasia Type 1 |
|
Respiratory failure, Congenital laryngeal stridor |
ORPHA:2254 |
| Alg1-Cdg |
|
Respiratory failure, Hypoalbuminemia |
ORPHA:79327 |
| Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy |
|
Respiratory distress, Recurrent respiratory infections, Elevated circulating creatine kinase conc... |
ORPHA:329178 |
| Mitochondrial Phosphate Carrier Deficiency |
|
Cyanosis, Respiratory insufficiency |
OMIM:610773 |
| Cutis Laxa, Autosomal Dominant 1 |
|
Prematurely aged appearance, Poor wound healing, Progeroid facial appearance, Dyspnea, Bronchiect... |
OMIM:123700 |
| Meckel Syndrome 14 |
|
Cardiorespiratory arrest, Pneumothorax, Pulmonary hypoplasia, Cyanosis |
OMIM:619879 |
| Neuropathy, Congenital Hypomyelinating, 3 |
|
Neonatal death, Respiratory failure, Respiratory insufficiency |
OMIM:618186 |
| Esophageal Atresia |
|
Respiratory distress, Recurrent respiratory infections, Cyanosis, Bronchitis, Maternal diabetes, ... |
ORPHA:1199 |
| Cyanosis, Transient Neonatal |
|
Jaundice, Cyanosis |
OMIM:613977 |
| Geleophysic Dysplasia 3 |
|
Dyspnea, Respiratory failure, Pneumonia |
OMIM:617809 |
| Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type |
|
Respiratory failure |
ORPHA:70472 |
| Pulmonary Hypertension, Primary, 1 |
|
Increased pulmonary vascular resistance, Dyspnea, Pulmonary arterial medial hypertrophy, Pulmonar... |
OMIM:178600 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1 |
|
Respiratory failure, Tachypnea, Inspiratory stridor, Ventilator dependence with inability to wean |
OMIM:604320 |
| Progressive Supranuclear Palsy-Parkinsonism Syndrome |
|
Respiratory distress |
ORPHA:240085 |
| Fructose-1,6-Bisphosphatase Deficiency |
|
Respiratory distress, Intermittent hyperventilation, Episodic tachypnea, Hypoglycemia, Dyspnea, A... |
ORPHA:348 |
| Atrial Septal Defect, Ostium Secundum Type |
|
Orthopnea, Cyanosis, Pneumonia, Breathing dysregulation, Increased pulmonary vascular resistance,... |
ORPHA:99103 |
| Restrictive Dermopathy 2 |
|
Respiratory distress, Cyanosis |
OMIM:619793 |
| Interstitial Lung And Liver Disease |
|
Dyspnea, Intraalveolar phospholipid accumulation, Abnormal pulmonary interstitial morphology, Res... |
OMIM:615486 |
| Peripartum Cardiomyopathy |
|
Orthopnea, Diabetes mellitus, Crackles, Dyspnea, Asthma, Respiratory failure, Paroxysmal dyspnea,... |
ORPHA:563 |
| Synaptic Congenital Myasthenic Syndromes |
|
Respiratory distress, Hypoventilation, Neonatal respiratory distress, Respiratory insufficiency, ... |
ORPHA:98915 |
| Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Hypoglycemia, Elevated circulating creatine kinase concentration, Elevated circulating acylcarnit... |
ORPHA:26791 |
| Mitochondrial Trifunctional Protein Deficiency 1 |
|
Elevated circulating creatine kinase concentration, Elevated circulating acylcarnitine concentrat... |
OMIM:609015 |
| Scimitar Syndrome |
|
Respiratory distress, Recurrent respiratory infections, Abnormal lung morphology, Partial anomalo... |
ORPHA:185 |
| Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy |
|
Death in infancy, Respiratory failure, Hyperammonemia |
ORPHA:1194 |
| Platyspondylic Lethal Skeletal Dysplasia, Torrance Type |
|
Respiratory distress, Stillbirth, Pulmonary hypoplasia |
OMIM:151210 |
| Malignant Atrophic Papulosis |
|
Pleural effusion, Telangiectasia of the skin, Respiratory failure |
ORPHA:679 |
| Chand Syndrome |
|
Atelectasis |
ORPHA:1401 |
| Orofaciodigital Syndrome Type 5 |
|
Median cleft lip, Abnormality of the philtrum, Cleft soft palate, Accessory oral frenulum, Agangl... |
ORPHA:2919 |
| Peroxisome Biogenesis Disorder 4A (Zellweger) |
|
Death in infancy, Respiratory failure, Increased circulating very long-chain fatty acid concentra... |
OMIM:614862 |
| Congenital Laryngeal Web |
|
Respiratory distress, Stridor |
ORPHA:2374 |
| Combined Oxidative Phosphorylation Deficiency 11 |
|
Death in infancy, Respiratory failure, Stillbirth, Death in childhood, Neonatal death |
OMIM:614922 |
| Bickerstaff Brainstem Encephalitis |
|
Respiratory failure requiring assisted ventilation, Pneumonia, Hypercapnia, Respiratory tract inf... |
ORPHA:79138 |
| Triosephosphate Isomerase Deficiency |
|
Respiratory distress, Death in infancy, Respiratory insufficiency due to muscle weakness, Jaundic... |
OMIM:615512 |
| Gaucher Disease, Perinatal Lethal |
|
Respiratory distress, Apnea, Pulmonary hypoplasia, Neonatal death, Petechiae, Purpura |
OMIM:608013 |
| Fontaine Progeroid Syndrome |
|
Thin upper lip vermilion, Protruding tongue, High, narrow palate, Oligohydramnios, Anteriorly pla... |
OMIM:612289 |
| Lethal Recessive Chondrodysplasia |
|
Respiratory distress |
ORPHA:1423 |
| Breath-Holding Spells |
|
Cyanosis |
OMIM:607578 |
| Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Respiratory distress, Cyanosis, Apnea, Pleural effusion, Neonatal hypoglycemia, Pulmonary edema |
OMIM:261740 |
| Netherton Syndrome |
|
Urticaria, Recurrent respiratory infections, Emphysema, Asthma |
ORPHA:634 |
| Diaphanospondylodysostosis |
|
Respiratory distress, Tracheomalacia, Pulmonary hypoplasia, Respiratory insufficiency |
OMIM:608022 |
| Lymphatic Malformation 10 |
|
Lymphedema |
OMIM:619369 |
| Carnitine Deficiency, Systemic Primary |
|
Respiratory distress, Elevated circulating creatine kinase concentration, Hyperammonemia, Recurre... |
OMIM:212140 |
| Bacterial Toxic-Shock Syndrome |
|
Respiratory distress, Sinusitis, Pneumonia, Elevated circulating creatine kinase concentration, R... |
ORPHA:36234 |
| Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy) |
|
Respiratory distress |
OMIM:612075 |
| Muscular Dystrophy, Duchenne Type |
|
Hypoventilation, Elevated circulating creatine kinase concentration, Respiratory insufficiency du... |
OMIM:310200 |
| Rhizomelic Chondrodysplasia Punctata, Type 2 |
|
Decreased circulating plasmalogen concentration |
OMIM:222765 |
| Congenital Enterovirus Infection |
|
Respiratory distress, Pleural effusion, Hypoalbuminemia, Hyperammonemia |
ORPHA:292 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
|
Respiratory distress, Respiratory insufficiency due to muscle weakness, Glycosuria, Respiratory f... |
OMIM:220110 |
| Oculocerebrorenal Syndrome Of Lowe |
|
Hyponatremia, Recurrent respiratory infections, Death in infancy, Hypoammonemia, Atelectasis, Res... |
ORPHA:534 |
| Infantile-Onset X-Linked Spinal Muscular Atrophy |
|
Respiratory distress, Mildly elevated creatine kinase, Respiratory insufficiency |
ORPHA:1145 |
| Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Hypoglycemia, Tachypnea, Abnormal pulmonary interstitial morphology, Respiratory insufficiency, R... |
OMIM:613658 |
| Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
|
Recurrent infections due to aspiration, Elevated circulating creatinine concentration, Decreased ... |
OMIM:223900 |
| Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans |
|
Respiratory distress, Central apnea, Respiratory failure, Neonatal death, Palmoplantar cutis laxa... |
OMIM:616482 |
| Folinic Acid-Responsive Seizures |
|
Respiratory distress, Apnea |
ORPHA:79097 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 2 |
|
Respiratory distress, Death in infancy, Increased serum pyruvate, Inspiratory stridor, Irregular ... |
OMIM:604377 |
| Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities |
|
Respiratory distress, Recurrent respiratory infections |
OMIM:619383 |
| Bloom Syndrome |
|
Diabetes mellitus, Pneumonia, Bronchitis, Respiratory tract infection, Insulin resistance, Chroni... |
ORPHA:125 |
| Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome |
|
Furrowed tongue |
ORPHA:2743 |
| Cardiomyopathy, Familial Hypertrophic, 4 |
|
Respiratory distress, Dyspnea, Pulmonary edema |
OMIM:115197 |
| Sepsis In Premature Infants |
|
Cyanosis, Abnormal mucociliary clearance, Elevated circulating C-reactive protein concentration, ... |
ORPHA:90051 |
| Degcags Syndrome |
|
Jejunal atresia, Polyhydramnios, Protruding tongue, Hiatus hernia, Pyloric stenosis, Wide mouth, ... |
OMIM:619488 |
| Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome |
|
Respiratory distress, Recurrent respiratory infections, Neonatal respiratory distress, Erythema, ... |
OMIM:614748 |
| Progressive Supranuclear Palsy-Corticobasal Syndrome |
|
Respiratory distress |
ORPHA:240103 |
| Thyroid Lymphoma |
|
Respiratory distress, Dyspnea, Stridor, Upper airway obstruction |
ORPHA:97285 |
| Congenital Disorder Of Glycosylation, Type Ix |
|
Respiratory distress, Death in childhood |
OMIM:615597 |
| Joubert Syndrome 21 |
|
Apnea, Dyspnea, Respiratory failure, Pulmonary hypoplasia, Chronic sinusitis |
OMIM:615636 |
| Congenital Disorder Of Glycosylation, Type Ie |
|
Respiratory distress, Elevated circulating creatine kinase concentration, Telangiectasia |
OMIM:608799 |
| Deafness-Craniofacial Syndrome |
|
Short lingual frenulum, Abnormality of the dentition, Short philtrum, Bifid tongue, Abnormal pala... |
ORPHA:3241 |
| Auriculocondylar Syndrome 1 |
|
Dental crowding, Dental malocclusion, Cleft palate, Mandibular condyle hypoplasia, Anterior open-... |
OMIM:602483 |
| Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency |
|
Respiratory distress, Acute hyperammonemia, Hyperglutaminemia, Hyperammonemia, Hyperalaninemia |
ORPHA:927 |
| Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome |
|
Respiratory failure requiring assisted ventilation, Respiratory failure, Recurrent pneumonia, Ele... |
ORPHA:496641 |
| Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant |
|
Central apnea, Respiratory failure, Respiratory insufficiency due to muscle weakness |
OMIM:618291 |
| Hemorrhagic Fever-Renal Syndrome |
|
Respiratory distress, Pneumonia, Epistaxis, Dyspnea, Elevated circulating creatinine concentratio... |
ORPHA:340 |
| Cryofibrinogenemia, Familial Primary |
|
Acrocyanosis |
OMIM:123540 |
| Diaphanospondylodysostosis |
|
Respiratory distress |
ORPHA:66637 |
| Common Variable Immunodeficiency |
|
Recurrent respiratory infections, Pneumonia, Bronchiectasis, Restrictive ventilatory defect, Emph... |
ORPHA:1572 |
| Deafness, Unilateral, With Delayed Endolymphatic Hydrops |
|
Edema |
OMIM:612097 |
| Plummer-Vinson Syndrome |
|
Tongue atrophy, Intra-oral hyperpigmentation, Cheilitis, Esophageal web, Narrow mouth, Glossitis |
ORPHA:54028 |
| Mucopolysaccharidosis-Plus Syndrome |
|
Respiratory distress, Recurrent respiratory infections, Recurrent bronchopulmonary infections, Re... |
OMIM:617303 |
| Amyotrophic Lateral Sclerosis |
|
Dyspnea, Respiratory failure, Abnormal respiratory system physiology |
ORPHA:803 |
| Lipoid Proteinosis |
|
Abnormal oral mucosa morphology, Abnormality of the gingiva, Thick lower lip vermilion, High pala... |
ORPHA:530 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Respiratory distress, Hyperammonemia |
ORPHA:289916 |
| Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1 |
|
Thin upper lip vermilion, Tented upper lip vermilion, Hypoplastic philtrum, Protruding tongue, Th... |
OMIM:309580 |
| Lymphangiectasia, Pulmonary, Congenital |
|
Palpebral edema, Nonimmune hydrops fetalis, Polyhydramnios, Edema, Facial edema, Chylous ascites,... |
OMIM:265300 |
| Arterial Tortuosity Syndrome |
|
Respiratory distress, Telangiectasia of the skin, Prematurely aged appearance, Dyspnea, Pulmonary... |
ORPHA:3342 |
| Achondroplasia |
|
Respiratory distress, Death in infancy, Upper airway obstruction, Pulmonary hypoplasia |
OMIM:100800 |
| Spinocerebellar Ataxia Type 1 |
|
Respiratory failure |
ORPHA:98755 |
| Congenital Disorder Of Glycosylation, Type Ig |
|
Respiratory distress, Hypoglycemia, Recurrent upper respiratory tract infections, Recurrent pneum... |
OMIM:607143 |
| Kyphoscoliosis-Lateral Tongue Atrophy-Hereditary Spastic Paraplegia Syndrome |
|
Tongue atrophy |
ORPHA:496689 |
| Odontochondrodysplasia |
|
Respiratory distress, Death in infancy |
ORPHA:166272 |
| S-Adenosylhomocysteine Hydrolase Deficiency |
|
Elevated circulating creatine kinase concentration, Abnormal circulating homocysteine concentrati... |
ORPHA:88618 |
| Metatropic Dysplasia |
|
Respiratory failure, Respiratory insufficiency |
OMIM:156530 |
| Cryptococcosis |
|
Respiratory distress, Pneumonia, Nodular pattern on pulmonary HRCT, Dyspnea, Cough, Pleural effusion |
ORPHA:1546 |
| Corneal Dystrophy, Fuchs Endothelial, 2 |
|
Edema |
OMIM:610158 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Respiratory distress, Hyperammonemia |
ORPHA:79312 |
| Down Syndrome |
|
Aganglionic megacolon, Protruding tongue, Duodenal stenosis, Macroglossia, Anal atresia |
OMIM:190685 |
| Myasthenic Syndrome, Congenital, 10 |
|
Tongue atrophy |
OMIM:254300 |
| Toxic Epidermal Necrolysis |
|
Respiratory distress, Recurrent respiratory infections, Abnormal pleura morphology, Erythema, Res... |
ORPHA:537 |
| Poems Syndrome |
|
Diabetes mellitus, Respiratory insufficiency due to muscle weakness, Restrictive ventilatory defe... |
ORPHA:2905 |
| Double Outlet Left Ventricle |
|
Pulmonary artery stenosis, Cyanosis, Tachypnea |
ORPHA:3427 |
| Hypoglossia With Situs Inversus |
|
Microglossia, High palate, Hypodontia, Narrow mouth |
OMIM:612776 |
| Orofaciodigital Syndrome Xv |
|
Lobulated tongue, Midline notch of upper alveolar ridge |
OMIM:617127 |
| 3-Methylglutaconic Aciduria, Type Viii |
|
Death in infancy, Apnea, Jaundice, Hypopnea, Respiratory failure, Neonatal death, Respiratory arr... |
OMIM:617248 |
| Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form |
|
Cyanotic episode, Hyperglycinemia, Hyposerinemia |
ORPHA:284417 |
| Oculocerebrofacial Syndrome, Kaufman Type |
|
Respiratory distress, Dyspnea, Respiratory failure |
ORPHA:2707 |
| Cronkhite-Canada Syndrome |
|
Intestinal polyposis, Malabsorption, Lymphedema, Hypogeusia, Furrowed tongue, Hamartomatous polyp... |
ORPHA:2930 |
| 22Q11.2 Deletion Syndrome |
|
Atelectasis, Asthma, Chronic pulmonary obstruction, Abnormal lung lobation, Hypocalcemia, Purpura |
ORPHA:567 |
| Hereditary Motor And Sensory Neuropathy, Type Iic |
|
Stridor, Respiratory failure, Intercostal muscle weakness |
OMIM:606071 |
| Auriculocondylar Syndrome 3 |
|
Glossoptosis, Bifid uvula |
OMIM:615706 |
| Neurodegeneration, Childhood-Onset, With Progressive Microcephaly |
|
Hyperalaninemia, Respiratory failure, Death in childhood |
OMIM:619847 |
| Cocaine Intoxication |
|
Respiratory distress, Elevated circulating creatine kinase concentration, Diffuse alveolar hemorr... |
ORPHA:90068 |
| Dermatomyositis |
|
Recurrent respiratory infections, Telangiectasia of the skin, Erythema, Abnormal pulmonary inters... |
ORPHA:221 |
| Hsd10 Disease, Infantile Type |
|
Cyanosis, Hypoglycemia, Hyperammonemia |
ORPHA:391428 |
| Cataract-Intellectual Disability-Hypogonadism Syndrome |
|
Furrowed tongue, Everted lower lip vermilion, High palate, Short philtrum, Tooth malposition |
ORPHA:1387 |
| Congenital Fiber-Type Disproportion Myopathy |
|
Recurrent respiratory infections, Hypercapnia, Respiratory insufficiency due to muscle weakness, ... |
ORPHA:2020 |
| Unilateral Polymicrogyria |
|
Cyanosis, Apnea, Epistaxis, Pulmonary arteriovenous malformation |
ORPHA:268943 |
| Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy |
|
Respiratory failure |
OMIM:616505 |
| Paternal 20Q13.2Q13.3 Microdeletion Syndrome |
|
Respiratory distress |
ORPHA:261304 |
| Mogs-Cdg |
|
Respiratory distress, Hypoventilation, Apnea, Pulmonary edema |
ORPHA:79330 |
| Chiari Malformation Type Ii |
|
Cyanosis, Inspiratory stridor |
OMIM:207950 |
| Structural Heart Defects And Renal Anomalies Syndrome |
|
Death in infancy, Partial anomalous pulmonary venous return, Elevated circulating creatinine conc... |
OMIM:617478 |
| Encephalopathy, Ethylmalonic |
|
Death in infancy, Elevated circulating butyrylcarnitine concentration, Acrocyanosis, Petechiae |
OMIM:602473 |
| Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Respiratory distress, Methylmalonic acidemia, Hypoglycemia, Hyperammonemia, Hyperglycinemia |
OMIM:251000 |
| Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
|
Respiratory distress, Generalized abnormality of skin, Hypoalbuminemia, Respiratory insufficiency |
ORPHA:367 |
| Histiocytoid Cardiomyopathy |
|
Cyanosis, Hypoglycemia, Tachypnea, Cough, Pulmonary edema |
ORPHA:137675 |
| Q Fever |
|
Respiratory distress, Pneumonia, Abnormal pulmonary interstitial morphology, Cough, Pleural effus... |
ORPHA:781 |
| Boutonneuse Fever |
|
Respiratory failure, Petechiae |
ORPHA:83313 |
| Orofaciodigital Syndrome Iii |
|
Supernumerary tooth, Tongue nodules, Microdontia, Bifid tongue, Bifid uvula |
OMIM:258850 |
| Telangiectasia, Hereditary Hemorrhagic, Type 4 |
|
Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Cyanosis, Pulmonary arteriovenous ... |
OMIM:610655 |
| Telangiectasia, Hereditary Hemorrhagic, Type 1 |
|
Conjunctival telangiectasia, Tongue telangiectasia, Palate telangiectasia, Pulmonary arteriovenou... |
OMIM:187300 |
| Meier-Gorlin Syndrome 4 |
|
Emphysema |
OMIM:613804 |
| Fibrodysplasia Ossificans Progressiva |
|
Respiratory failure, Respiratory insufficiency |
OMIM:135100 |
| Holocarboxylase Synthetase Deficiency |
|
Respiratory distress, Tachypnea, Hyperammonemia |
ORPHA:79242 |
| Hughes-Stovin Syndrome |
|
Pulmonary embolism, Dyspnea, Cardiorespiratory arrest, Cough, Pulmonary artery aneurysm, Pulmonar... |
ORPHA:228116 |
| Isolated Right Ventricular Hypoplasia |
|
Hypoxemia, Dyspnea, Cyanosis |
ORPHA:439 |
| Combined Oxidative Phosphorylation Deficiency 37 |
|
Hypoglycemia, Respiratory insufficiency, Respiratory failure, Hypoalbuminemia, Hyperalaninemia |
OMIM:618329 |
| Auriculocondylar Syndrome |
|
Dental crowding, Hamartoma of tongue, Narrow mouth, Microglossia, Dental malocclusion, Cleft pala... |
ORPHA:137888 |
| Bilateral Perisylvian Polymicrogyria |
|
Protruding tongue |
ORPHA:98889 |
| Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Respiratory distress, Recurrent respiratory infections, Pneumonia, Abnormal blood ion concentrati... |
ORPHA:37042 |
| Isolated Atp Synthase Deficiency |
|
Respiratory distress, Hyperalaninemia, Hyperammonemia |
ORPHA:254913 |
| Combined Oxidative Phosphorylation Deficiency 3 |
|
Hyponatremia, Death in infancy, Elevated circulating creatine kinase concentration, Dyspnea, Resp... |
OMIM:610505 |
| Lissencephaly Syndrome, Norman-Roberts Type |
|
Respiratory distress |
ORPHA:89844 |
| Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1 |
|
Bradypnea, Respiratory failure, Death in childhood |
OMIM:617186 |
| Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Hyponatremia, Hypoventilation, Cyanosis, Central hypoventilation, Asthma, Recurrent upper respira... |
ORPHA:293987 |
| Sandestig-Stefanova Syndrome |
|
Respiratory failure |
OMIM:618804 |
| Tarp Syndrome |
|
Cyanosis, Apnea, Pulmonary hypoplasia |
ORPHA:2886 |
| Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language |
|
Downturned corners of mouth, Lobulated tongue, Thin upper lip vermilion, Short philtrum |
OMIM:613443 |
| Cutis Laxa, Autosomal Recessive, Type Ia |
|
Recurrent respiratory infections, Emphysema |
OMIM:219100 |
| Hypoglossia-Hypodactylia |
|
Microglossia, Aglossia, Narrow mouth |
OMIM:103300 |
| Lethal Congenital Contracture Syndrome 2 |
|
Respiratory failure |
OMIM:607598 |
| 3-Methylglutaconic Aciduria, Type Viib |
|
Respiratory distress, Recurrent pneumonia, Neonatal hypoglycemia |
OMIM:616271 |
| Severe Generalized Junctional Epidermolysis Bullosa |
|
Respiratory distress, Pneumonia, Dyspnea, Pneumothorax, Abnormal blood ion concentration, Stridor... |
ORPHA:79404 |
| Sarcoidosis, Susceptibility To, 1 |
|
Dyspnea, Emphysema, Bronchiectasis, Abnormal pulmonary interstitial morphology, Pulmonary infiltr... |
OMIM:181000 |
| Stt3B-Cdg |
|
Respiratory distress |
ORPHA:370924 |
| Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Respiratory distress, Hypertyrosinemia, Death in infancy, Hypoglycemia, Conjugated hyperbilirubin... |
OMIM:617156 |
| Osteogenesis Imperfecta, Type X |
|
Respiratory distress, Recurrent pneumonia, Chronic lung disease, Death in childhood |
OMIM:613848 |
| Truncus Arteriosus |
|
Cyanosis, Anomalous origin of one pulmonary artery from ascending aorta, Pulmonary artery stenosi... |
ORPHA:3384 |
| Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Hypertriglyceridemia, Emphysema, Premature graying of hair, Hypercholesterolemia, Premature skin ... |
ORPHA:363618 |
| Kallmann Syndrome-Heart Disease Syndrome |
|
Pulmonary artery hypoplasia, Cyanosis |
ORPHA:2326 |
| Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs |
|
Respiratory distress, Prolonged neonatal jaundice |
ORPHA:226313 |
| Idiopathic Hypereosinophilic Syndrome |
|
Respiratory distress, Cutis marmorata, Pulmonary embolism, Dyspnea, Angioedema, Asthma, Pulmonary... |
ORPHA:3260 |
| Mitochondrial Trifunctional Protein Deficiency |
|
Respiratory failure, Hypocalcemia, Respiratory insufficiency, Hypoketotic hypoglycemia |
ORPHA:746 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2S |
|
Tongue atrophy |
OMIM:616155 |
| Digeorge Syndrome |
|
Atelectasis, Asthma, Recurrent pneumonia, Chronic pulmonary obstruction, Hypocalcemia, Recurrent ... |
OMIM:188400 |
| Atypical Pantothenate Kinase-Associated Neurodegeneration |
|
Tongue atrophy |
ORPHA:216873 |
| Thoracic Dysplasia-Hydrocephalus Syndrome |
|
Respiratory failure |
ORPHA:1861 |
| Orofaciodigital Syndrome Xix |
|
Cleft soft palate, Accessory oral frenulum, Carious teeth, Narrow palate, Downturned corners of m... |
OMIM:620107 |
| Orofaciodigital Syndrome Iv |
|
Hamartoma of tongue, Accessory oral frenulum, Cleft palate, Lobulated tongue, High palate, Tongue... |
OMIM:258860 |
| Listeriosis |
|
Respiratory distress, Miscarriage, Pneumonia, Jaundice, Respiratory failure |
ORPHA:533 |
| Tetanus |
|
Respiratory distress, Tachypnea, Elevated circulating creatine kinase concentration |
ORPHA:3299 |
| Familial Dysautonomia |
|
Hyponatremia, Recurrent respiratory infections, Acrocyanosis, Abnormal pleura morphology |
ORPHA:1764 |
| Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome |
|
Glucose intolerance, Acrocyanosis, Impaired glucose tolerance |
OMIM:614407 |
| Lymphatic Malformation 6 |
|
Genital edema, Nonimmune hydrops fetalis, Polyhydramnios, Edema, Facial edema, Lymphedema, Perior... |
OMIM:616843 |
| Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb |
|
Thin upper lip vermilion, Pierre-Robin sequence, Glossoptosis, High palate, Open mouth |
OMIM:613604 |
| Japanese Encephalitis |
|
Respiratory distress, Hyponatremia, Pulmonary edema, Respiratory paralysis, Abnormal pattern of r... |
ORPHA:79139 |
| Mitochondrial Complex I Deficiency, Nuclear Type 1 |
|
Death in infancy, Cyanosis, Apnea, Hypoglycemia, Respiratory insufficiency, Respiratory failure, ... |
OMIM:252010 |
| Criss-Cross Heart |
|
Cyanosis, Respiratory insufficiency |
ORPHA:1461 |
| Buerger Disease |
|
Acrocyanosis |
ORPHA:36258 |
| Facioscapulohumeral Muscular Dystrophy 1 |
|
Tongue atrophy |
OMIM:158900 |
| Congenital Total Pulmonary Venous Return Anomaly |
|
Respiratory distress, Recurrent respiratory infections, Respiratory failure requiring assisted ve... |
ORPHA:99125 |
| Nasolacrimal Duct Cyst |
|
Intercostal retractions, Episodic respiratory distress, Stridor, Paroxysmal dyspnea, Abnormal bre... |
ORPHA:141083 |
| Cardiac Valvular Dysplasia 2 |
|
Central cyanosis, Pulmonary artery dilatation |
OMIM:620067 |
| Nijmegen Breakage Syndrome |
|
Recurrent sinopulmonary infections, Recurrent respiratory infections, Recurrent pneumonia, Respir... |
ORPHA:647 |
| Myasthenic Syndrome, Congenital, 21, Presynaptic |
|
Cyanosis, Apnea, Respiratory insufficiency |
OMIM:617239 |
| Holzgreve Syndrome |
|
Bifid tongue, Aplasia/Hypoplasia of the tongue, Cleft palate, Oligohydramnios |
ORPHA:2167 |
| Leukodystrophy, Hypomyelinating, 26, With Chondrodysplasia |
|
Glossoptosis, Pierre-Robin sequence, Cleft palate |
OMIM:620269 |
| Aortic Arch Interruption |
|
Respiratory distress, Cyanosis, Tachypnea, Aortopulmonary window, Exertional dyspnea |
ORPHA:2299 |
| Heterotaxy, Visceral, 7, Autosomal |
|
Pulmonary artery atresia, Pulmonary artery hypoplasia, Cyanosis, Total anomalous pulmonary venous... |
OMIM:616749 |
| Tuberous Sclerosis Complex |
|
Respiratory distress, Respiratory tract infection, Respiratory failure, Generalized abnormality o... |
ORPHA:805 |
| Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome |
|
Furrowed tongue |
ORPHA:2928 |
| Rnf13-Related Severe Early-Onset Epileptic Encephalopathy |
|
Respiratory distress |
ORPHA:544503 |
| Orofaciodigital Syndrome V |
|
Thin upper lip vermilion, Median cleft lip, Aganglionic megacolon, Hamartoma of tongue, Cleft pal... |
OMIM:174300 |
| Episodic Ataxia Type 1 |
|
Respiratory distress |
ORPHA:37612 |
| Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Respiratory distress, Jaundice, Elevated circulating creatinine concentration, Prolonged neonatal... |
OMIM:274150 |
| Autosomal Recessive Polycystic Kidney Disease |
|
Hyponatremia, Hypoventilation, Spontaneous pneumothorax, Jaundice, Recurrent pneumonia, Respirato... |
ORPHA:731 |
| Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
|
Increased circulating ferritin concentration, Respiratory failure |
ORPHA:3240 |
| Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome |
|
High, narrow palate, Glossoptosis, Submucous cleft hard palate, Hypodontia |
ORPHA:3201 |
| Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly |
|
Respiratory distress |
OMIM:617102 |
| Congenital Myopathy 22B, Severe Fetal |
|
Respiratory distress, Pleural effusion, Pulmonary hypoplasia |
OMIM:620369 |
| Niemann-Pick Disease Type C |
|
Abnormal lung morphology, Jaundice, Respiratory insufficiency, Pulmonary infiltrates, Respiratory... |
ORPHA:646 |
| Infantile Krabbe Disease |
|
Respiratory distress, Respiratory failure |
ORPHA:206436 |
| Telangiectasia, Hereditary Hemorrhagic, Type 2 |
|
Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Cyanosis, Nail bed telangiectasia,... |
OMIM:600376 |
| Loeys-Dietz Syndrome 4 |
|
Emphysema, Pneumothorax, Bruising susceptibility |
OMIM:614816 |
| Glycine Encephalopathy With Normal Serum Glycine |
|
Respiratory failure, Apnea |
OMIM:617301 |
| Autosomal Recessive Cutis Laxa Type 2, Classic Type |
|
Abnormal subcutaneous fat tissue distribution, Prominent veins on trunk, Excessive wrinkled skin,... |
ORPHA:357074 |
| Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted |
|
Respiratory distress, Recurrent respiratory infections |
OMIM:300968 |
| Developmental And Epileptic Encephalopathy 68 |
|
Respiratory distress |
OMIM:618201 |
| Meier-Gorlin Syndrome 1 |
|
Respiratory distress, Death in infancy, Emphysema |
OMIM:224690 |
| Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Respiratory distress, Recurrent respiratory infections, Stridor, Hypoalbuminemia, Pulmonary arter... |
ORPHA:505248 |
| Peripheral Motor Neuropathy-Dysautonomia Syndrome |
|
Acrocyanosis |
ORPHA:2400 |
| Moebius Syndrome |
|
Respiratory distress |
OMIM:157900 |
| Tetraamelia Syndrome 2 |
|
Glossoptosis, Ankyloglossia, Bilateral cleft lip, Cleft palate |
OMIM:618021 |
| Inhalational Anthrax |
|
Respiratory distress, Dyspnea |
ORPHA:247257 |
| Craniofaciofrontodigital Syndrome |
|
Respiratory distress, Prominent superficial veins, Dyspnea, Palmoplantar cutis laxa, Pulmonary ar... |
ORPHA:363705 |
| Myotonic Dystrophy 1 |
|
Respiratory distress |
OMIM:160900 |
| Dravet Syndrome |
|
Cyanotic episode |
ORPHA:33069 |
| Congenital Fibrinogen Deficiency |
|
Cyanosis, Bruising susceptibility, Subcutaneous hemorrhage |
ORPHA:335 |
| Rodrigues Blindness |
|
Ectodermal dysplasia, Nasal flaring |
OMIM:268320 |
| Mandibulofacial Dysostosis With Alopecia |
|
Dental crowding, Delayed eruption of primary teeth, Cleft palate, Glossoptosis, Everted lower lip... |
OMIM:616367 |
| Combined Oxidative Phosphorylation Deficiency 19 |
|
Respiratory distress, Stridor |
OMIM:615595 |
| Mitochondrial Complex I Deficiency, Nuclear Type 37 |
|
Respiratory distress, Pulmonary arterial hypertension |
OMIM:619272 |
| Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Respiratory distress, Recurrent respiratory infections, Methylmalonic acidemia, Apnea, Hypoglycemia |
ORPHA:17 |
| Eisenmenger Syndrome |
|
Respiratory distress, Cyanosis, Elevated circulating C-reactive protein concentration, Increased ... |
ORPHA:97214 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9 |
|
Respiratory failure, Elevated circulating creatine kinase concentration |
OMIM:616538 |
| Colchicine Poisoning |
|
Respiratory distress, Hyponatremia, Abnormal blood ion concentration, Cardiorespiratory arrest, H... |
ORPHA:31824 |
| Pelizaeus-Merzbacher Disease, Connatal Form |
|
Respiratory failure |
ORPHA:280210 |
| Abetalipoproteinemia |
|
Decreased HDL cholesterol concentration, Decreased LDL cholesterol concentration, Steatorrhea, Re... |
ORPHA:14 |
| Leigh Syndrome |
|
Hyperalaninemia, Respiratory failure, Hypoglycemia, Abnormal pattern of respiration |
ORPHA:506 |
| Osteopetrosis, Autosomal Recessive 5 |
|
Respiratory failure, Stillbirth, Hypocalcemia, Hyperbilirubinemia |
OMIM:259720 |
| Heterotaxy, Visceral, 1, X-Linked |
|
Respiratory distress, Bilateral trilobed lung, Cyanosis, Total anomalous pulmonary venous return |
OMIM:306955 |
| Fabry Disease |
|
Conjunctival telangiectasia, Telangiectasia of the skin, Angiokeratoma, Dyspnea, Hyperlipidemia, ... |
ORPHA:324 |
| Pontocerebellar Hypoplasia, Type 1B |
|
Tongue atrophy, Tongue fasciculations |
OMIM:614678 |
| Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities |
|
Respiratory failure |
OMIM:620327 |
| Myasthenia Gravis |
|
Dyspnea, Acrocyanosis, Glycosuria |
ORPHA:589 |
| Acquired Hypertrichosis Lanuginosa |
|
Macroglossia, Glossitis |
ORPHA:2221 |
| Hereditary Angioedema Type 1 |
|
Respiratory distress, Dyspnea, Urticaria, Dermatographic urticaria, Inspiratory stridor |
ORPHA:100050 |
| Lethal Acantholytic Erosive Disorder |
|
Respiratory failure, Fragile skin |
ORPHA:158687 |
| Trisomy 8Q |
|
Non-midline cleft lip, Cleft palate, Orofacial cleft, Abnormal oral frenulum morphology, Everted ... |
ORPHA:1752 |
| Postinfectious Vasculitis |
|
Abnormal circulating protein concentration, Palpable purpura, Cutis marmorata, Pneumonia, Elevate... |
ORPHA:48435 |
| Methylmalonic Aciduria, Cblb Type |
|
Respiratory distress, Methylmalonic acidemia, Hyperglycinemia, Hyperammonemia |
OMIM:251110 |
| Choreoacanthocytosis |
|
Protruding tongue |
ORPHA:2388 |
| Coccidioidomycosis |
|
Respiratory distress, Pneumonia, Pulmonary infiltrates, Pleural empyema, Parenchymal consolidatio... |
ORPHA:228123 |
| Keutel Syndrome |
|
Sinusitis, Miscarriage, Recurrent bronchitis, Pulmonary artery hypoplasia, Emphysema, Chronic sin... |
OMIM:245150 |
| Joubert Syndrome 18 |
|
Lobulated tongue, Cleft palate |
OMIM:614815 |
| Leptospirosis |
|
Respiratory distress, Jaundice, Hyperproteinemia, Cough, Pleural effusion, Pulmonary hemorrhage |
ORPHA:509 |
| Mgat2-Cdg |
|
Respiratory distress, Recurrent upper and lower respiratory tract infections |
ORPHA:79329 |
| Primary Dystonia, Dyt4 Type |
|
Respiratory distress |
ORPHA:98805 |
| Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Respiratory distress, Hypomethioninemia, Methylmalonic acidemia, Hypoglycemia, Pulmonary embolism... |
ORPHA:79282 |
| Hereditary Mucoepithelial Dysplasia |
|
Tracheoesophageal fistula, Gingival overgrowth, Furrowed tongue |
ORPHA:1839 |
| Oculopharyngodistal Myopathy 1 |
|
Respiratory distress, Elevated circulating creatine kinase concentration, Hypercapnia, Reduced fo... |
OMIM:164310 |
| Spinal muscular atrophy, type I, with congenital bone fractures |
|
Respiratory distress |
OMIM:271225 |
| Kniest Dysplasia |
|
Respiratory distress, Tracheomalacia |
OMIM:156550 |
| Oromandibular Dystonia |
|
Respiratory distress |
ORPHA:93958 |
| Charcot-Marie-Tooth Disease, Type 4C |
|
Tongue atrophy, Tongue fasciculations |
OMIM:601596 |
| Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis |
|
Respiratory distress |
OMIM:606164 |
| Acquired Purpura Fulminans |
|
Acrocyanosis, Elevated circulating C-reactive protein concentration, Macular purpura |
ORPHA:49566 |
| Fallot Complex-Intellectual Disability-Growth Delay Syndrome |
|
Cyanosis |
ORPHA:3304 |
| Poliomyelitis |
|
Respiratory failure requiring assisted ventilation, Respiratory failure |
ORPHA:2912 |
| Hypomandibular Faciocranial Dysostosis |
|
Aplasia/Hypoplasia of the tongue, Polyhydramnios, Cleft palate, Narrow mouth, Bifid uvula |
ORPHA:1790 |
| Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction |
|
Glossoptosis, Cleft palate |
OMIM:618356 |
| Ulbright-Hodes Syndrome |
|
Respiratory distress, Maternal diabetes, Pneumothorax, Respiratory failure, Pulmonary hypoplasia |
ORPHA:3404 |
| Mitochondrial Complex I Deficiency, Nuclear Type 32 |
|
Hyponatremia, Respiratory failure, Death in childhood |
OMIM:618252 |
| Carey-Fineman-Ziter Syndrome |
|
Aplasia/Hypoplasia of the tongue, Pierre-Robin sequence, Cleft palate, Glossoptosis, Thin vermili... |
ORPHA:1358 |
| Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence |
|
Respiratory distress, Neonatal respiratory distress, Tracheomalacia |
OMIM:217980 |
| Costello Syndrome |
|
Hypoglycemia, Pneumothorax, Respiratory insufficiency, Respiratory failure, Tracheomalacia |
OMIM:218040 |
| Arthrogryposis, Distal, Type 5D |
|
Tongue atrophy, Cleft palate, Furrowed tongue, Narrow mouth, Open mouth |
OMIM:615065 |
| Amyotrophic Lateral Sclerosis 27, Juvenile |
|
Tongue atrophy, Tongue fasciculations |
OMIM:620285 |
| Neuromuscular Oculoauditory Syndrome |
|
Respiratory distress, Aspiration, Elevated circulating creatine kinase concentration |
OMIM:618733 |
| Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome |
|
Bifid tongue, Intestinal malrotation, Bilateral cleft lip and palate |
ORPHA:2001 |
| Methylmalonic Aciduria, Cbla Type |
|
Respiratory distress, Methylmalonic acidemia, Hyperglycinemia, Hyperammonemia |
OMIM:251100 |
| Congenital Disorder Of Deglycosylation 1 |
|
Respiratory distress, Recurrent respiratory infections, Elevated circulating alpha-fetoprotein co... |
OMIM:615273 |
| Mohr Syndrome |
|
Median cleft lip, Accessory oral frenulum, Cleft palate, Tongue nodules, Lobulated tongue, High p... |
OMIM:252100 |
| Ethylmalonic Encephalopathy |
|
Acrocyanosis, Petechiae |
ORPHA:51188 |
| Microlissencephaly-Micromelia Syndrome |
|
Respiratory distress |
ORPHA:50810 |
| Prader-Willi Syndrome Due To Translocation |
|
Respiratory distress, Recurrent respiratory infections |
ORPHA:177907 |
| Biotinidase Deficiency |
|
Respiratory distress, Apnea, Hyperammonemia, Hyperventilation |
ORPHA:79241 |
| Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome |
|
Respiratory distress, Pulmonary arterial hypertension |
ORPHA:2519 |
| Neonatal Marfan Syndrome |
|
Hypoxemia, Emphysema, Neonatal respiratory distress |
ORPHA:284979 |
| Agnathia-Holoprosencephaly-Situs Inversus Syndrome |
|
Respiratory distress |
ORPHA:990 |
| Orofaciodigital Syndrome Type 3 |
|
Irregular dentition, Hamartoma of tongue, Abnormality of the dentition, Lobulated tongue, Bifid u... |
ORPHA:2752 |
| Methemoglobinemia And Ambiguous Genitalia |
|
Cyanosis |
OMIM:250790 |
| Ehlers-Danlos Syndrome, Vascular Type |
|
Pulmonary bulla, Recurrent intrapulmonary hemorrhage, Spontaneous pneumothorax, Repeated pneumoth... |
OMIM:130050 |
| Shwachman-Diamond Syndrome 1 |
|
Respiratory distress, Neonatal respiratory distress, Steatorrhea |
OMIM:260400 |
| Aicardi-Goutieres Syndrome 1 |
|
Erythema, Prolonged neonatal jaundice, Acrocyanosis, Petechiae, Purpura |
OMIM:225750 |
| Autosomal Recessive Cutis Laxa Type 1 |
|
Pneumothorax, Recurrent pneumonia, Respiratory insufficiency, Emphysema, Peripheral pulmonary art... |
ORPHA:90349 |
| Meier-Gorlin Syndrome 6 |
|
Tracheobronchomalacia, Recurrent respiratory infections, Emphysema |
OMIM:616835 |
| Chromosome 6Q24-Q25 Deletion Syndrome |
|
Respiratory distress |
OMIM:612863 |
| Psoriasis 14, Pustular |
|
Geographic tongue, Furrowed tongue |
OMIM:614204 |
| Adnp Syndrome |
|
Respiratory distress, Aspiration, Recurrent upper respiratory tract infections |
ORPHA:404448 |
| Robin Sequence With Distinctive Facial Appearance And Brachydactyly |
|
Exaggerated median tongue furrow, Tented upper lip vermilion, Exaggerated cupid's bow, Long upper... |
OMIM:608670 |
| Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Malabsorption, Xerostomia, Hamartomatous polyposis, Protein-losing enteropathy, Glossitis |
OMIM:175500 |
| Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion |
|
Respiratory failure |
ORPHA:254528 |
| Pachyonychia Congenita 3 |
|
Chapped lip, Oral leukoplakia, Gingivitis, Furrowed tongue |
OMIM:615726 |
| Lelis Syndrome |
|
Carious teeth, Hypodontia, Furrowed tongue |
ORPHA:140936 |
| Campomelic Dysplasia |
|
Respiratory distress, Neonatal respiratory distress, Apnea, Recurrent upper respiratory tract inf... |
OMIM:114290 |
| Hyperimmunoglobulinemia D With Periodic Fever |
|
Urticaria, Erythema, Acrocyanosis, Purpura |
ORPHA:343 |
| Mandibulofacial Dysostosis, Guion-Almeida Type |
|
Respiratory distress |
OMIM:610536 |
| Spondyloepiphyseal Dysplasia Congenita |
|
Respiratory distress, Restrictive ventilatory defect |
OMIM:183900 |
| Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation |
|
Respiratory distress |
ORPHA:438216 |
| 9Q21.13 Microdeletion Syndrome |
|
Downturned corners of mouth, Abnormal tongue morphology |
ORPHA:531151 |
| Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Miscarriage, Pulmonary artery stenosis, Restrictive ventilatory defect, Respiratory failure, Pulm... |
ORPHA:96334 |
| Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome |
|
Cyanosis |
ORPHA:488627 |
| Pachyonychia Congenita |
|
Respiratory distress |
ORPHA:2309 |
| Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type) |
|
Respiratory distress, Hypoglycemia, Jaundice, Recurrent hypoglycemia, Prolonged neonatal jaundice |
OMIM:256810 |
| Tarp Syndrome |
|
Cleft palate, Tongue nodules, Glossoptosis, High palate, Meckel diverticulum, Oligohydramnios |
OMIM:311900 |
| Alternating Hemiplegia Of Childhood |
|
Respiratory distress, Aspiration, Apnea, Flushing |
ORPHA:2131 |
| Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome |
|
Glossoptosis, Cleft palate |
ORPHA:440354 |
| Pfeiffer Syndrome Type 2 |
|
Respiratory distress, Tracheomalacia |
ORPHA:93259 |
| Eosinophilic Fasciitis |
|
Acrocyanosis |
ORPHA:3165 |
| Acro-Renal-Mandibular Syndrome |
|
Aplasia/Hypoplasia of the tongue, Tracheoesophageal fistula, Orofacial cleft, High palate, Short ... |
ORPHA:958 |
| Hartnup Disease |
|
Glossitis, Gingivitis, Malabsorption |
ORPHA:2116 |
| Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome |
|
Respiratory distress |
ORPHA:1555 |
| Otospondylomegaepiphyseal Dysplasia |
|
Glossoptosis, Polyhydramnios, Bifid uvula, Cleft palate |
ORPHA:1427 |
| Ear-Patella-Short Stature Syndrome |
|
Respiratory distress, Dyspnea, Respiratory failure |
ORPHA:2554 |
| Congenital Disorder Of Glycosylation, Type Iig |
|
Thin upper lip vermilion, Pierre-Robin sequence, Cleft palate, Glossoptosis, High palate, Narrow ... |
OMIM:611209 |
| Spinocerebellar Ataxia 36 |
|
Tongue atrophy, Tongue fasciculations |
OMIM:614153 |
| Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type |
|
Carious teeth, Glossoptosis |
ORPHA:93346 |
| Orofaciodigital Syndrome I |
|
Median cleft lip, Hamartoma of tongue, Cleft upper lip, Carious teeth, Supernumerary tooth, Alveo... |
OMIM:311200 |
| Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Emphysema, Unilateral lung agenesis, Respiratory failure |
ORPHA:500150 |
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 |
|
Death in infancy, Respiratory failure, Elevated hepatic iron concentration |
OMIM:300868 |
| Pfeiffer Syndrome Type 3 |
|
Respiratory distress, Tracheomalacia |
ORPHA:93260 |
| Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Tented upper lip vermilion, Cleft palate, Furrowed tongue, High palate, Short philtrum, Everted l... |
OMIM:616449 |
| Steinert Myotonic Dystrophy |
|
Respiratory failure requiring assisted ventilation, Diabetes mellitus, Respiratory insufficiency ... |
ORPHA:273 |
| Hypoglossia-Hypodactyly Syndrome |
|
Jejunal atresia, Aplasia/Hypoplasia of the tongue, Cleft palate, High palate, Hypodontia, Narrow ... |
ORPHA:989 |
| Orofaciodigital Syndrome Type 2 |
|
Natal tooth, Median cleft lip, Hamartoma of tongue, Unilateral alveolar cleft of maxilla, Velopha... |
ORPHA:2751 |
| Beare-Stevenson Cutis Gyrata Syndrome |
|
Palmoplantar cutis laxa, Respiratory distress |
OMIM:123790 |
| Bazex-Dupre-Christol Syndrome |
|
Furrowed tongue |
OMIM:301845 |
| Gitelman Syndrome |
|
Respiratory distress, Maternal diabetes, Insulin resistance, Hypermagnesemia, Glucose intolerance... |
ORPHA:358 |
| Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome |
|
Increased nuchal translucency, Cleft palate, Furrowed tongue, Downturned corners of mouth, Macrog... |
ORPHA:453499 |
| Mandibuloacral Dysplasia |
|
High palate, Abnormal tongue morphology, Dental crowding, Hypoplasia of teeth |
ORPHA:2457 |
| Acrodermatitis Enteropathica |
|
Malabsorption, Cheilitis, Abnormality of the tongue, Furrowed tongue, Glossitis |
ORPHA:37 |
| Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Pneumonia, Rhinitis, Co... |
ORPHA:95455 |
| Arboleda-Tham Syndrome |
|
Respiratory distress, Recurrent respiratory infections, Neonatal respiratory distress, Recurrent ... |
OMIM:616268 |
| Spinocerebellar Ataxia Type 36 |
|
Tongue atrophy, Tongue fasciculations |
ORPHA:276198 |
| Kasabach-Merritt Syndrome |
|
Respiratory distress, Hypopnea, Petechiae, Purpura |
ORPHA:2330 |
| Cleidocranial Dysplasia |
|
Delayed eruption of teeth, Abnormal dental enamel morphology, Abnormality of the dentition, Open ... |
ORPHA:1452 |
| Mitochondrial Dna-Associated Leigh Syndrome |
|
Apnea, Dyspnea, Low plasma citrulline, Episodic respiratory distress, Hyperalaninemia, Hyperventi... |
ORPHA:255210 |
| Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Respiratory distress, Pulmonary hypoplasia |
ORPHA:83617 |
| Microphthalmia With Linear Skin Defects Syndrome |
|
Respiratory distress, Dyspnea, Respiratory failure, Erythema |
ORPHA:2556 |
| Generalized Pustular Psoriasis |
|
Geographic tongue, Cheilitis, Pedal edema |
ORPHA:247353 |
| Cardiac Valvular Dysplasia 1 |
|
Pulmonary artery atresia, Cyanosis |
OMIM:212093 |
| Cowden Syndrome 5 |
|
Colonic diverticula, Furrowed tongue, Hamartomatous polyposis, High palate, Narrow mouth |
OMIM:615108 |
| Cutis Laxa, Autosomal Recessive, Type Ib |
|
Pulmonary artery dilatation, Emphysema, Pulmonary artery aneurysm |
OMIM:614437 |
| Orofaciodigital Syndrome Type 6 |
|
Hamartoma of tongue, Midline notch of upper alveolar ridge, Cleft palate, Lobulated tongue, Abnor... |
ORPHA:2754 |
| Pitt-Hopkins Syndrome |
|
Acrocyanosis, Abnormal pattern of respiration, Hyperventilation |
ORPHA:2896 |
| Agel Amyloidosis |
|
Tongue atrophy, Xerostomia, Blepharochalasis, Edema |
ORPHA:85448 |
| Diamond-Blackfan Anemia 10 |
|
Respiratory distress |
OMIM:613309 |
| Autosomal Recessive Robinow Syndrome |
|
Tented upper lip vermilion, Exaggerated cupid's bow, Abnormality of the dentition, Open bite, Sup... |
ORPHA:1507 |
| Orofaciodigital Syndrome Type 1 |
|
Median cleft lip, Abnormal dental enamel morphology, Accessory oral frenulum, Hamartoma of tongue... |
ORPHA:2750 |
| Cohen Syndrome |
|
Macrodontia, Aplasia/Hypoplasia of the tongue, Abnormality of the dentition, High, narrow palate,... |
ORPHA:193 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type |
|
Thin upper lip vermilion, Diastema, Furrowed tongue, High palate, Smooth philtrum |
OMIM:300534 |
| Orofaciodigital Syndrome Vi |
|
Hamartoma of tongue, Accessory oral frenulum, Cleft upper lip, Cleft palate, Incomplete cleft of ... |
OMIM:277170 |
| Hyperparathyroidism, Transient Neonatal |
|
Respiratory distress |
OMIM:618188 |
| Moebius Syndrome |
|
Aplasia/Hypoplasia of the tongue, Cleft palate, Tooth agenesis, High palate, Everted lower lip ve... |
ORPHA:570 |
| Cerebrocostomandibular Syndrome |
|
Anal stenosis, Cleft soft palate, Polyhydramnios, Carious teeth, Cleft lip, Pierre-Robin sequence... |
OMIM:117650 |
| Schinzel-Giedion Syndrome |
|
Respiratory distress, Recurrent pneumonia, Pulmonary hypoplasia |
ORPHA:798 |
| Ectodermal Dysplasia 1, Hypohidrotic, X-Linked |
|
Respiratory distress, Rhinitis, Hypohidrotic ectodermal dysplasia, Periorbital wrinkles |
OMIM:305100 |
| Cowden Syndrome 6 |
|
Colonic diverticula, Furrowed tongue, Hamartomatous polyposis, High palate, Narrow mouth |
OMIM:615109 |
| Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
|
Exaggerated median tongue furrow, Intestinal pseudo-obstruction, Exaggerated cupid's bow, Open bi... |
ORPHA:453504 |
| Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
|
Exaggerated median tongue furrow, Intestinal pseudo-obstruction, Exaggerated cupid's bow, Open bi... |
ORPHA:352665 |
| Congenital Alveolar Capillary Dysplasia |
|
Respiratory distress, Pulmonary arterial hypertension |
ORPHA:210122 |
| Hutchinson-Gilford Progeria Syndrome |
|
Prominent superficial blood vessels, Cyanosis, Insulin resistance, Upper airway obstruction, Pulm... |
ORPHA:740 |
| Sarcoidosis |
|
Abnormal nasal mucosa morphology, Hypercalcemia, Abnormal pleura morphology, Dyspnea, Abnormal lu... |
ORPHA:797 |
| Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
|
Respiratory distress, Pulmonary artery stenosis, Neonatal insulin-dependent diabetes mellitus |
ORPHA:2255 |
| X-Linked Agammaglobulinemia |
|
Glossoptosis, Malabsorption |
ORPHA:47 |
| Robinow Syndrome, Autosomal Dominant 3 |
|
Cleft lip, Dental malocclusion, Gingival overgrowth, Cleft palate, Agenesis of permanent teeth, A... |
OMIM:616894 |
| Ramos-Arroyo Syndrome |
|
Respiratory distress |
ORPHA:1051 |
| Fraser Syndrome 2 |
|
Respiratory failure |
OMIM:617666 |
| Fucosidosis |
|
Acrocyanosis, Vascular skin abnormality |
ORPHA:349 |
| Autosomal Dominant Cutis Laxa |
|
Prematurely aged appearance, Bronchiectasis, Premature skin wrinkling, Bronchiolitis, Emphysema, ... |
ORPHA:90348 |
| Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Natal tooth, Hamartoma of tongue, Cleft lip, Cleft palate, Incomplete cleft of the upper lip, Lob... |
OMIM:616300 |
| Myhre Syndrome |
|
Respiratory failure, Respiratory insufficiency |
OMIM:139210 |
| Rubinstein-Taybi Syndrome 1 |
|
Respiratory tract infection, Recurrent upper respiratory tract infections, Respiratory distress |
OMIM:180849 |
| Methylmalonic Aciduria And Homocystinuria, Cblf Type |
|
Thin upper lip vermilion, Tracheoesophageal fistula, High palate, Stomatitis, Glossitis |
OMIM:277380 |
| Hereditary Folate Malabsorption |
|
Glossitis, Cheilitis |
ORPHA:90045 |
| Treacher-Collins Syndrome |
|
Abnormal dental morphology, Abnormal dental enamel morphology, Cleft upper lip, Open bite, Abnorm... |
ORPHA:861 |
| Contractures-Developmental Delay-Pierre Robin Syndrome |
|
High, narrow palate, Glossoptosis, Cleft palate |
ORPHA:436003 |
| 8Q24.3 Microdeletion Syndrome |
|
Respiratory distress, Abnormal lung lobation |
ORPHA:508488 |
| Odontoonychodermal Dysplasia |
|
Abnormality of primary teeth, Agenesis of permanent teeth, Conical incisor, Widely spaced primary... |
OMIM:257980 |
| Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Tented upper lip vermilion, Exaggerated cupid's bow, High, narrow palate, Cleft palate, Furrowed ... |
ORPHA:464738 |
| Methylmalonic Acidemia With Homocystinuria Type Cblf |
|
Stomatitis, Glossitis, Cleft palate |
ORPHA:79284 |
| Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Intestinal malrotation, Hamartoma of tongue, Cleft upper lip, Cleft palate, Bifid tongue, Anal at... |
OMIM:613091 |
| Cowden Syndrome 1 |
|
Colonic diverticula, Furrowed tongue, Hamartomatous polyposis, High palate, Narrow mouth |
OMIM:158350 |
| Plague |
|
Acute infectious pneumonia, Respiratory distress |
ORPHA:707 |
| Ectodermal Dysplasia-Skin Fragility Syndrome |
|
Chapped lip, Abnormal dental morphology, Abnormality of the dentition, Carious teeth, Abnormal to... |
ORPHA:158668 |
| Robinow Syndrome |
|
Dental crowding, Persistence of primary teeth, Dental malocclusion, Gingival overgrowth, Orofacia... |
ORPHA:97360 |
| Myopathy, Myofibrillar, 7 |
|
Tongue atrophy |
OMIM:617114 |
| Carey-Fineman-Ziter Syndrome 1 |
|
Pierre-Robin sequence, Cleft palate, Glossoptosis, High palate, Microglossia |
OMIM:254940 |
| Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant |
|
Microdontia, Oral leukoplakia, Furrowed tongue |
OMIM:148210 |
| Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome |
|
Glossoptosis |
ORPHA:2031 |
| Rabson-Mendenhall Syndrome |
|
Dental crowding, Abnormality of the dentition, Gingival overgrowth, Furrowed tongue, Macroglossia... |
ORPHA:769 |
| Cleidocranial Dysplasia 1 |
|
Respiratory distress, Neonatal respiratory distress |
OMIM:119600 |
| Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii |
|
Dyspnea, Respiratory failure |
ORPHA:2636 |
| Isolated Arrhinia |
|
Respiratory distress |
ORPHA:1134 |
| Doors Syndrome |
|
Respiratory distress, Aspiration pneumonia |
ORPHA:79500 |
| Robinow Syndrome, Autosomal Dominant 1 |
|
Delayed eruption of teeth, Thin upper lip vermilion, Short lingual frenulum, Dental crowding, Per... |
OMIM:180700 |
| Smith-Lemli-Opitz Syndrome |
|
Aganglionic megacolon, Abnormal dental enamel morphology, Abnormal dental morphology, Polyhydramn... |
ORPHA:818 |
| Osteoglophonic Dysplasia |
|
Respiratory distress |
OMIM:166250 |
| Congenitally Corrected Transposition Of The Great Arteries |
|
Pulmonary artery atresia, Cyanosis |
ORPHA:216694 |
| Robinow Syndrome, Autosomal Recessive 1 |
|
Thin upper lip vermilion, Tented upper lip vermilion, Dental crowding, Gingival overgrowth, Wide ... |
OMIM:268310 |
| Autosomal Dominant Robinow Syndrome |
|
Median cleft lip and palate, Open bite, High, narrow palate, Abnormality of the gingiva, Supernum... |
ORPHA:3107 |
| Hallermann-Streiff Syndrome |
|
Natal tooth, Abnormality of the dentition, High, narrow palate, Supernumerary tooth, Abnormality ... |
ORPHA:2108 |
| Otopalatodigital Syndrome Type 2 |
|
Pierre-Robin sequence, Cleft palate, Glossoptosis, Oligodontia, Narrow mouth, Anodontia |
ORPHA:90652 |
| Au-Kline Syndrome |
|
Dental malocclusion, Cleft palate, Downturned corners of mouth, Oligodontia, High palate, Open mo... |
OMIM:616580 |
| Stuve-Wiedemann Syndrome 1 |
|
Pursed lips, Carious teeth, Thin vermilion border, Smooth tongue, Oligohydramnios |
OMIM:601559 |
| Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome |
|
Asthma, Nasal flaring |
ORPHA:466943 |
| Frontorhiny |
|
Bifid tongue, Cleft palate |
ORPHA:391474 |
| Otopalatodigital Syndrome, Type Ii |
|
Respiratory failure, Stillbirth, Respiratory insufficiency |
OMIM:304120 |
| Imerslund-Gräsbeck Syndrome |
|
Glossitis, Angular cheilitis |
ORPHA:35858 |
| Stüve-Wiedemann Syndrome |
|
Respiratory distress, Asthma, Apnea |
ORPHA:3206 |
| Hyperoxaluria, Primary, Type I |
|
Hyperoxaluria, Acrocyanosis, Cutis marmorata |
OMIM:259900 |
| Charcot-Marie-Tooth Disease Type 4B2 |
|
Difficulty in tongue movements, Tongue atrophy |
ORPHA:99956 |
| Marshall-Smith Syndrome |
|
Eclabion, Irregular dentition, Pyloric stenosis, Gingival overgrowth, Anteriorly placed anus, Glo... |
OMIM:602535 |
| Generalized Arterial Calcification Of Infancy |
|
Respiratory distress, Pulmonary arterial hypertension, Hypophosphatemic rickets, Cyanosis |
ORPHA:51608 |
| X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability |
|
Respiratory distress, Recurrent upper and lower respiratory tract infections |
ORPHA:480880 |
| Charcot-Marie-Tooth Disease Type 1F |
|
Tongue atrophy |
ORPHA:101085 |
| Aicardi-Goutières Syndrome |
|
Diabetes mellitus, Acrocyanosis, Cutis marmorata, Prolonged neonatal jaundice |
ORPHA:51 |
| Spondyloepiphyseal Dysplasia Congenita |
|
Glossoptosis, Cleft palate |
ORPHA:94068 |
| Mucoepithelial Dysplasia, Hereditary |
|
Erythematous oral mucosa, Furrowed tongue |
OMIM:158310 |
| Yunis-Varon Syndrome |
|
Premature loss of primary teeth, Polyhydramnios, Abnormality of dental structure, High, narrow pa... |
ORPHA:3472 |
| Primary Hyperoxaluria |
|
Hyperoxaluria, Acrocyanosis, Cutis marmorata |
ORPHA:416 |
| Charcot-Marie-Tooth Disease Type 4C |
|
Difficulty in tongue movements, Tongue atrophy, Tongue fasciculations |
ORPHA:99949 |
| Meckel Syndrome, Type 1 |
|
Smooth philtrum, Thin upper lip vermilion, Natal tooth, Intestinal malrotation, Cleft upper lip, ... |
OMIM:249000 |
| Giant Cell Arteritis |
|
Glossitis |
ORPHA:397 |
| Catel-Manzke Syndrome |
|
Cleft upper lip, Pierre-Robin sequence, Cleft palate, Glossoptosis, High palate, Narrow mouth, Bi... |
OMIM:616145 |
| Alström Syndrome |
|
Respiratory distress, Hypertriglyceridemia, Dorsocervical fat pad, Hyperlipidemia, Recurrent uppe... |
ORPHA:64 |
| Cerebrocostomandibular Syndrome |
|
Glossoptosis, Short hard palate, Cleft palate |
ORPHA:1393 |
| Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria |
|
Respiratory distress, Recurrent pneumonia |
ORPHA:99646 |
| Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
|
Cleft lip, Furrowed tongue, High palate, Broad alveolar ridges, Smooth philtrum, Duodenal atresia |
OMIM:616975 |
| Kawasaki Disease |
|
Glossitis, Cheilitis, Edema |
ORPHA:2331 |
| Orofaciodigital Syndrome Type 14 |
|
Accessory oral frenulum, Hamartoma of tongue, Supernumerary tooth, Aplasia of the epiglottis, Cle... |
ORPHA:434179 |
| Stickler Syndrome |
|
Abnormal dental enamel morphology, Cleft upper lip, Open bite, Cleft palate, Glossoptosis, Macrog... |
ORPHA:828 |
| Orofaciodigital Syndrome Xiv |
|
Natal tooth, Hamartoma of tongue, Cleft lip, Supernumerary tooth, Aplasia of the epiglottis, Clef... |
OMIM:615948 |
| Meckel Syndrome |
|
Oligohydramnios, Aplasia/Hypoplasia of the tongue, Cleft palate, Furrowed tongue |
ORPHA:564 |
| Pmm2-Cdg |
|
Respiratory distress, Abnormal subcutaneous fat tissue distribution, Reduced thyroxin-binding glo... |
ORPHA:79318 |
| Short-Rib Thoracic Dysplasia 15 With Polydactyly |
|
Respiratory distress |
OMIM:617088 |
| Glucagonoma |
|
Intestinal obstruction, Steatorrhea, Stomatitis, Ascites, Glossitis |
ORPHA:97280 |
| Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form |
|
Enamel hypoplasia, Smooth tongue, Oral mucosal blisters |
ORPHA:79396 |
| Classical Ehlers-Danlos Syndrome |
|
Prematurely aged appearance, Poor wound healing, Ecchymosis, Acrocyanosis, Fragile skin, Bruising... |
ORPHA:287 |
| Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Thin upper lip vermilion, Downturned corners of mouth, Glossoptosis, Macroglossia, High palate, L... |
ORPHA:444077 |
| Distal Deletion 15Q |
|
Thin upper lip vermilion, Abnormality of the dentition, Cleft palate, Short philtrum, Bifid tongue |
ORPHA:1596 |
| Hypermobile Ehlers-Danlos Syndrome |
|
Acrocyanosis, Apnea |
ORPHA:285 |
| Multiple Endocrine Neoplasia Type 2 |
|
Aganglionic megacolon, Abnormal tongue morphology, Thick vermilion border, Ganglioneuromatosis |
ORPHA:653 |
| Cowden Syndrome |
|
Furrowed tongue, Hamartomatous polyposis, Macroglossia, Colorectal polyposis, High palate |
ORPHA:201 |
| Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z |
|
Tongue atrophy |
ORPHA:466768 |
| Microsporidiosis |
|
Glossitis, Dehydration |
ORPHA:2552 |
| Fraser Syndrome |
|
Anal stenosis, Dental crowding, Cleft upper lip, Dental malocclusion, Orofacial cleft, Ectopic an... |
ORPHA:2052 |
| Coffin-Lowry Syndrome |
|
Acrocyanosis, Cutis marmorata |
OMIM:303600 |
| Short Rib-Polydactyly Syndrome, Verma-Naumoff Type |
|
Cleft upper lip, Esophageal atresia, Hydrops fetalis, Ectopic anus, Long philtrum, Bifid tongue, ... |
ORPHA:93271 |
| Viss Syndrome |
|
Chronic gastritis, Duodenitis, Intestinal malrotation, Cleft soft palate, Submucous cleft soft pa... |
OMIM:619472 |
| Carney Complex |
|
Neoplasm of the stomach, Esophageal neoplasm, Neoplasm of the rectum, Abnormal hard palate morpho... |
ORPHA:1359 |
