Granulomas, Congenital Cerebral |
|
Neonatal death |
OMIM:306300 |
Genitourinary Tract Anomalies |
|
Neonatal death |
OMIM:305690 |
Orofacial Cleft 11 |
|
Cleft lip, Cleft palate |
OMIM:600625 |
Syngnathia |
|
Cleft palate |
OMIM:119550 |
Palatopharyngeal Incompetence |
|
Velopharyngeal insufficiency, Cleft palate |
OMIM:167500 |
Perching Syndrome |
|
Respiratory distress, Cyanosis, Feeding difficulties, High palate, Dysphagia |
OMIM:617055 |
Isolated Congenital Hypoglossia/Aglossia |
|
Respiratory distress, Nasogastric tube feeding in infancy, Dyspnea, Upper airway obstruction, Cle... |
ORPHA:141152 |
Uvula, Bifid |
|
Bifid uvula |
OMIM:192100 |
Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis |
|
Death in infancy, Villous atrophy, Malnutrition, Dehydration, Protracted diarrhea, Abnormal intes... |
OMIM:251850 |
Orofacial Cleft 10 |
|
Unilateral cleft palate, Unilateral cleft lip |
OMIM:613705 |
Bronchopulmonary Dysplasia |
|
Respiratory distress, Central apnea, Respiratory failure requiring assisted ventilation, Dyspnea,... |
ORPHA:70589 |
2q33.1 deletion syndrome |
|
Inguinal hernia, High palate, Cleft palate |
DECIPHER:51 |
Epilepsy, Familial Adult Myoclonic, 1 |
|
Jerk-locked premyoclonus spikes, Tremor, EEG with irregular generalized spike and wave complexes,... |
OMIM:601068 |
Trehalase Deficiency |
|
Abnormal circulating enzyme concentration or activity, Abdominal pain, Malabsorption, Abdominal d... |
ORPHA:103909 |
Orofacial Cleft 1 |
|
Cleft palate, Cleft upper lip |
OMIM:119530 |
Orofacial Cleft 5 |
|
Cleft palate, Cleft upper lip |
OMIM:608874 |
Orofacial Cleft 6, Susceptibility To |
|
Cleft palate, Cleft upper lip |
OMIM:608864 |
Asbestos Intoxication |
|
Reduced forced vital capacity, Nonproductive cough, Diffuse reticular or finely nodular infiltrat... |
ORPHA:2302 |
Recurrent Respiratory Papillomatosis |
|
Respiratory distress, Nonproductive cough, Wheezing, Tachypnea, Dyspnea, Upper airway obstruction... |
ORPHA:60032 |
Cleft Soft Palate |
|
Cleft soft palate |
OMIM:119570 |
Congenital Pancreatic Cyst |
|
Anorexia, Abdominal pain, Abdominal distention, Jaundice, Vomiting |
ORPHA:313906 |
Bifid Uvula |
|
Submucous cleft soft palate, Cleft lip, Bifid uvula |
ORPHA:99771 |
Acute Interstitial Pneumonia |
|
Cyanosis, Peribronchovascular interstitial thickening, Crackles, Nodular pattern on pulmonary HRC... |
ORPHA:79126 |
Surfactant Metabolism Dysfunction, Pulmonary, 3 |
|
Respiratory distress, Apnea, Crazy paving pattern, Nodular pattern on pulmonary HRCT, Tachypnea, ... |
OMIM:610921 |
Ankyloblepharon Filiforme Adnatum And Cleft Palate |
|
Cleft palate, Cleft upper lip |
OMIM:106250 |
Cleft Lip/Palate |
|
Agenesis of lateral incisor, Bilateral cleft palate, Oral-pharyngeal dysphagia, Hypoplasia of the... |
ORPHA:199306 |
Congenital Velopharyngeal Incompetence |
|
Velopharyngeal insufficiency, Abnormal palate morphology |
ORPHA:2291 |
Chronic Hiccup |
|
Malnutrition, Dehydration, Abnormal eating behavior |
ORPHA:396 |
Ehlers-Danlos Syndrome, Periodontal Type, 2 |
|
Inguinal hernia, Atypical scarring of skin, Gingival fragility, Periodontitis, Gingival bleeding,... |
OMIM:617174 |
Laryngotracheal Angioma |
|
Respiratory distress, Cyanosis, Apnea, Intercostal retractions, Wheezing, Feeding difficulties, S... |
ORPHA:137935 |
Pierre Robin Syndrome And Oligodactyly |
|
Pierre-Robin sequence, Cleft palate |
OMIM:172880 |
Respiratory Distress Syndrome In Premature Infants |
|
Respiratory distress, Neonatal respiratory distress, Dyspnea, Atelectasis, Tachypnea, Pulmonary e... |
OMIM:267450 |
Chronic Diarrhea Due To Glucoamylase Deficiency |
|
Dyspepsia, Abnormal circulating enzyme concentration or activity, Abnormal small intestinal mucos... |
ORPHA:103907 |
Cataract-Aberrant Oral Frenula-Growth Delay Syndrome |
|
Umbilical hernia, Inguinal hernia, Accessory oral frenulum |
ORPHA:1373 |
Mucus Inspissation Of Respiratory Tract |
|
Recurrent respiratory infections, Atelectasis, Chronic pulmonary obstruction, Bronchiectasis, Chr... |
OMIM:253240 |
Pierre Robin Syndrome |
|
Neonatal respiratory distress, Feeding difficulties in infancy, Pierre-Robin sequence, Upper airw... |
OMIM:261800 |
Ciliary Dyskinesia, Primary, 47, And Lissencephaly |
|
Respiratory distress, Recurrent respiratory infections, Abnormal mucociliary clearance, Atelectas... |
OMIM:619466 |
High Altitude Pulmonary Edema |
|
Nausea and vomiting, Orthopnea, Cyanosis, Crackles, Anorexia, Dyspnea, Tachypnea, Hypoxemia, Coug... |
ORPHA:330012 |
Congenital Laryngomalacia |
|
Non-midline cleft lip, Cleft palate |
ORPHA:2373 |
Ciliary Dyskinesia, Primary, 21 |
|
Neonatal respiratory distress, Atelectasis, Recurrent pneumonia, Decreased nasal nitric oxide, Br... |
OMIM:615294 |
Pyknoachondrogenesis |
|
Stillbirth |
OMIM:265880 |
Lactase Deficiency, Congenital |
|
Lactose intolerance, Diarrhea, Decreased small intestinal mucosa lactase level, Dehydration |
OMIM:223000 |
Omphalocele-Cleft Palate Syndrome, Lethal |
|
Omphalocele, Bifid uvula, Cleft palate |
OMIM:258320 |
Ankyloblepharon Filiforme Adnatum-Imperforate Anus Syndrome |
|
Tooth agenesis, Non-midline cleft lip, Cleft palate |
ORPHA:1074 |
Surfactant Metabolism Dysfunction, Pulmonary, 1 |
|
Death in infancy, Neonatal respiratory distress, Cyanosis, Apnea, Ground-glass opacification, Dys... |
OMIM:265120 |
Ciliary Dyskinesia, Primary, 29 |
|
Recurrent respiratory infections, Atelectasis, Decreased nasal nitric oxide, Bronchiectasis, Cili... |
OMIM:615872 |
Hyperekplexia 4 |
|
Inguinal hernia, Flexion contracture, Distal arthrogryposis, High palate, Camptodactyly, Umbilica... |
OMIM:618011 |
Glycosylphosphatidylinositol Biosynthesis Defect 11 |
|
Inguinal hernia, Tented upper lip vermilion, Macroglossia, High palate, Umbilical hernia |
OMIM:616025 |
Intestinal Dysmotility Syndrome |
|
Projectile vomiting, Abdominal distention, Diarrhea, Feeding difficulties, Decreased intestinal t... |
OMIM:620045 |
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction |
|
Respiratory distress, Recurrent respiratory infections, Neonatal respiratory distress, Crackles, ... |
OMIM:610978 |
Cryptogenic Organizing Pneumonia |
|
Respiratory distress, Bronchial breath sound, Cyanosis, Anorexia, Crackles, Ground-glass opacific... |
ORPHA:1302 |
Van Der Woude Syndrome 1 |
|
Cleft upper lip, Lower lip pit, Cleft palate, Hypodontia, Bifid uvula |
OMIM:119300 |
Laryngotracheoesophageal Cleft |
|
Recurrent respiratory infections, Neonatal respiratory distress, Cyanosis, Cough, Dyspnea, Strido... |
ORPHA:2004 |
Chronic Pneumonitis Of Infancy |
|
Respiratory distress, Cyanosis, Intercostal retractions, Ground-glass opacification, Reduced forc... |
ORPHA:91359 |
Infant Acute Respiratory Distress Syndrome |
|
Cyanosis, Pneumonia, Respiratory tract infection, Atelectasis, Nasal flaring, Tachypnea, Hypoxemi... |
ORPHA:70587 |
Primary Effusion Lymphoma |
|
Dyspnea, Abdominal distention, Pleural effusion, Abdominal pain |
ORPHA:48686 |
Developmental And Epileptic Encephalopathy 30 |
|
Respiratory distress, Death in infancy, Abnormal repetitive mannerisms, Feeding difficulties |
OMIM:616341 |
Congenital Sucrase-Isomaltase Deficiency |
|
Abdominal distention, Abdominal colic, Vomiting, Diarrhea |
ORPHA:35122 |
Diarrhea 4, Malabsorptive, Congenital |
|
Diarrhea, Vomiting, Dehydration |
OMIM:610370 |
Ciliary Dyskinesia, Primary, 33 |
|
Atelectasis, Recurrent pneumonia, Bronchiectasis, Chronic rhinitis, Cough, Recurrent lower respir... |
OMIM:616726 |
Cleft Velum |
|
Cleft soft palate, Oral-pharyngeal dysphagia, Hypoplasia of the maxilla, Velopharyngeal insuffici... |
ORPHA:99772 |
Idiopathic Chronic Eosinophilic Pneumonia |
|
Abnormal pulmonary thoracic imaging finding, Crackles, Nonproductive cough, Dyspnea, Wheezing, As... |
ORPHA:2902 |
Lethal Omphalocele-Cleft Palate Syndrome |
|
Omphalocele, Cleft soft palate, Cleft palate, Unilateral cleft lip, Bifid uvula |
ORPHA:2736 |
Interstitial Pneumonitis, Desquamative, Familial |
|
Respiratory distress, Cyanosis, Type II pneumocyte hypertrophy, Desquamative interstitial pneumon... |
OMIM:263000 |
Meconium Aspiration Syndrome |
|
Respiratory distress, Abnormal pulmonary thoracic imaging finding, Neonatal asphyxia, Wheezing, P... |
ORPHA:70588 |
Vascular Malformation, Primary Intraosseous |
|
Umbilical hernia, Ectopic tooth eruption, Diastasis recti, Gingival bleeding |
OMIM:606893 |
Congenital Short Bowel Syndrome |
|
Abnormal peristalsis, Projectile vomiting, Intestinal malrotation, Abdominal distention, Chronic ... |
OMIM:615237 |
Familial Nasal Acilia |
|
Respiratory distress, Dyspnea, Atelectasis, Recurrent upper respiratory tract infections, Bronchi... |
ORPHA:922 |
Diarrhea 12, With Microvillus Atrophy |
|
Villous atrophy, Microvillus inclusions, Respiratory tract infection, Abdominal distention, Secre... |
OMIM:619445 |
Surfactant Metabolism Dysfunction, Pulmonary, 2 |
|
Respiratory distress, Reduced forced vital capacity, Tachypnea, Cough, Decreased DLCO, Bronchiect... |
OMIM:610913 |
Polycystic Liver Disease 1 With Or Without Kidney Cysts |
|
Dyspnea, Abdominal distention, Elevated circulating alkaline phosphatase concentration |
OMIM:174050 |
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome |
|
Acrocyanosis |
ORPHA:86918 |
Alpha-Methylacetoacetic Aciduria |
|
Vomiting, Dehydration |
OMIM:203750 |
Bronchogenic Cyst |
|
Abnormal pulmonary thoracic imaging finding, Pulmonary cyst, Pneumonia, Abnormal pleura morpholog... |
ORPHA:2357 |
Orofacial Cleft 13 |
|
Oligodontia, Cleft soft palate |
OMIM:613857 |
Immunodeficiency 95 |
|
Respiratory distress, Recurrent respiratory infections, Ground-glass opacification, Respiratory f... |
OMIM:619773 |
Neuralgic Amyotrophy |
|
Acrocyanosis, Respiratory insufficiency, Cleft palate, Narrow mouth |
ORPHA:2901 |
Cleft Palate, Isolated |
|
Anterior open-bite malocclusion, Increased overbite, Gingival overgrowth, Cleft palate |
OMIM:119540 |
Tracheobronchopathia Osteochondroplastica |
|
Recurrent respiratory infections, Pneumonia, Bronchitis, Productive cough, Atelectasis, Wheezing,... |
ORPHA:3348 |
Phosphoserine Aminotransferase Deficiency |
|
Death in infancy, Cyanotic episode, Apnea, Feeding difficulties |
OMIM:610992 |
Combined Malonic And Methylmalonic Aciduria |
|
Diarrhea, Vomiting, Dehydration |
OMIM:614265 |
Cleft Palate With Or Without Ankyloglossia, X-Linked |
|
Ankyloglossia, Bifid uvula, Cleft palate |
OMIM:303400 |
Venular Insufficiency, Systemic |
|
Cyanosis |
OMIM:192700 |
Sulfhemoglobinemia, Congenital |
|
Cyanosis |
OMIM:185460 |
Combined Oxidative Phosphorylation Deficiency 30 |
|
Respiratory distress, Death in infancy, Elevated circulating aspartate aminotransferase concentra... |
OMIM:616974 |
Pulmonary Hypoplasia, Primary |
|
Neonatal death |
OMIM:265430 |
Tetraamelia With Ectodermal Dysplasia And Lacrimal Duct Abnormalities |
|
Wide mouth, Umbilical hernia, Downturned corners of mouth, High, narrow palate |
OMIM:273390 |
Cleft Palate-Lateral Synechia Syndrome |
|
Oral synechia, Everted lower lip vermilion, Cleft palate, Narrow mouth |
ORPHA:2016 |
Cleft Palate, Deafness, And Oligodontia |
|
No permanent dentition, Oligodontia of primary teeth, Cleft soft palate |
OMIM:216300 |
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea |
|
Thin upper lip vermilion, Crackles, Ground-glass opacification, Abdominal distention, Dyspnea, Ch... |
OMIM:620233 |
Diarrhea 8, Secretory Sodium, Congenital |
|
Abdominal distention, Inflammation of the large intestine, Secretory diarrhea |
OMIM:616868 |
Bullous Dystrophy, Hereditary Macular Type |
|
Acrocyanosis, Death in childhood |
OMIM:302000 |
Adiposis Dolorosa |
|
Abdominal distention, Constipation, Painful subcutaneous lipomas |
OMIM:103200 |
Congenital Enterocyte Heparan Sulfate Deficiency |
|
Edema, Abdominal distention, Diarrhea, Dehydration, Hematochezia, Protein-losing enteropathy |
ORPHA:103910 |
Pleural Mesothelioma |
|
Respiratory distress, Abnormal pleura morphology, Dyspnea, Abnormal lung morphology, Abnormal res... |
ORPHA:50251 |
Plectin-Related Limb-Girdle Muscular Dystrophy R17 |
|
Atelectasis, Pulmonary fibrosis, Dysphagia, Bronchiolitis, Increased circulating lactate dehydrog... |
ORPHA:254361 |
Methemoglobinemia, Beta Type |
|
Cyanosis |
OMIM:617971 |
Methemoglobinemia, Alpha Type |
|
Cyanosis |
OMIM:617973 |
Isolated Polycystic Liver Disease |
|
Gastrointestinal hemorrhage, Abdominal pain, Feeding difficulties in infancy, Abdominal distentio... |
ORPHA:2924 |
Muscular Hypertonia, Lethal |
|
Umbilical hernia |
OMIM:254120 |
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness |
|
Atelectasis, Chronic sinusitis, Recurrent bronchitis |
OMIM:300455 |
Familial Cold Urticaria |
|
Nausea and vomiting, Abdominal pain, Erythema, Dehydration, Urticaria, Polydipsia |
ORPHA:47045 |
Congenital Myopathy 10A, Severe Variant |
|
Respiratory distress, Cleft palate, Respiratory insufficiency, Restrictive ventilatory defect, Re... |
OMIM:614399 |
Pulmonary Alveolar Proteinosis, Acquired |
|
Recurrent respiratory infections, Cyanosis, Lung abscess, Pneumonia, Dyspnea, Intraalveolar phosp... |
OMIM:610910 |
Myasthenic Syndrome, Congenital, 4A, Slow-Channel |
|
Respiratory distress, Sudden episodic apnea, Feeding difficulties in infancy, Respiratory insuffi... |
OMIM:605809 |
Isolated Pierre Robin Syndrome |
|
Glossoptosis, Neonatal respiratory distress, Upper airway obstruction, Cleft palate |
ORPHA:718 |
Myotubular Myopathy With Abnormal Genital Development |
|
Respiratory distress, Death in infancy, Atelectasis, Feeding difficulties, High palate, Neonatal ... |
OMIM:300219 |
Thyroid Hemiagenesis |
|
Macroglossia, Jaundice, Constipation, Abdominal distention |
ORPHA:95719 |
Bronchiolitis Obliterans With Obstructive Pulmonary Disease |
|
Pneumonia, Reduced forced expiratory volume in one second, Reduced forced vital capacity, Dyspnea... |
ORPHA:1303 |
Facial Palsy, Congenital, With Ptosis And Velopharyngeal Dysfunction |
|
Velopharyngeal insufficiency, Nasal regurgitation, Dysphagia |
OMIM:617732 |
Myasthenic Syndrome, Congenital, 6, Presynaptic |
|
Respiratory distress, Sudden episodic apnea, Respiratory insufficiency due to muscle weakness, Ap... |
OMIM:254210 |
Hernia, Anterior Diaphragmatic |
|
Neonatal death |
OMIM:306950 |
Auriculocondylar Syndrome 2A |
|
Respiratory distress, Dental crowding, Apnea, Microglossia, Dental malocclusion, Cleft palate, Ma... |
OMIM:614669 |
Choanal Atresia |
|
Respiratory distress, Recurrent respiratory infections, Cyanosis, Upper airway obstruction, Feedi... |
ORPHA:137914 |
Central Diabetes Insipidus |
|
Nausea and vomiting, Anorexia, Diarrhea, Dehydration, Polydipsia |
ORPHA:178029 |
Hemifacial Hyperplasia With Strabismus |
|
Submucous cleft hard palate |
OMIM:141350 |
Stuve-Wiedemann Syndrome 2 |
|
Respiratory distress, Death in adolescence, Stillbirth, Dysphagia, Neonatal death, Pulmonary arte... |
OMIM:619751 |
X-Linked Ehlers-Danlos Syndrome |
|
Umbilical hernia, Inguinal hernia, Hernia |
ORPHA:75497 |
Fetal Minoxidil Syndrome |
|
Umbilical hernia |
ORPHA:1918 |
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency |
|
Neonatal death, Vomiting, Decreased liver function, Dehydration |
OMIM:602199 |
Glucose/Galactose Malabsorption |
|
Malabsorption, Abdominal distention, Hyperactive bowel sounds, Chronic diarrhea, Hypertonic dehyd... |
OMIM:606824 |
Porphyria Due To Ala Dehydratase Deficiency |
|
Abnormal circulating enzyme concentration or activity, Restlessness, Abdominal pain, Abnormal ery... |
ORPHA:100924 |
Diffuse Gastric And Lobular Breast Cancer Syndrome |
|
Stomach cancer, Atrophic gastritis, Cleft palate, Cleft upper lip |
OMIM:137215 |
Secondary Short Bowel Syndrome |
|
Abnormal small intestine morphology, Villous atrophy, Small intestinal dysmotility, Aganglionic m... |
ORPHA:95427 |
Seizures, Benign Familial Infantile, 3 |
|
Cyanosis, Apnea |
OMIM:607745 |
C1Q Deficiency 2 |
|
Atelectasis, Bronchiectasis, Oral ulcer, Facial erythema, Vasculitis in the skin, Recurrent lower... |
OMIM:620321 |
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome |
|
Bifid uvula, Submucous cleft hard palate, Camptodactyly of finger, Cleft palate |
ORPHA:2521 |
Enteric Anendocrinosis |
|
Diarrhea, Vomiting, Dehydration, Malabsorption |
ORPHA:83620 |
Hypothyroidism, Congenital, Nongoitrous, 4 |
|
Omphalocele, Umbilical hernia, Macroglossia |
OMIM:275100 |
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome |
|
Ground-glass opacification, Respiratory tract infection, Nonproductive cough, Dyspnea, Chronic pu... |
ORPHA:79127 |
Emphysema, Congenital Lobar |
|
Respiratory distress |
OMIM:130710 |
Isobutyryl-Coa Dehydrogenase Deficiency |
|
Vomiting, Dehydration |
ORPHA:79159 |
Hypomyelination Neuropathy-Arthrogryposis Syndrome |
|
Respiratory distress |
ORPHA:2680 |
Seizures, Benign Familial Infantile, 1 |
|
Cyanosis, Apnea |
OMIM:601764 |
Birk-Barel Syndrome |
|
Microretrognathia, Reduced subcutaneous adipose tissue, Tented upper lip vermilion, Feeding diffi... |
OMIM:612292 |
Coffin-Siris Syndrome 3 |
|
Inguinal hernia, Central diaphragmatic hernia, Cleft palate, Wide mouth, Macroglossia, Delayed er... |
OMIM:614608 |
Avian Influenza |
|
Elevated hepatic transaminase, Respiratory distress, Miscarriage, Pneumonia, Abdominal pain, Prod... |
ORPHA:454836 |
Gaucher Disease Type 2 |
|
Respiratory distress, Recurrent respiratory infections, Dysphagia, Cough, Abnormal pattern of res... |
ORPHA:77260 |
Severe X-Linked Mitochondrial Encephalomyopathy |
|
Feeding difficulties in infancy, Respiratory insufficiency, Tongue fasciculations, Respiratory di... |
ORPHA:238329 |
Hirschsprung Disease, Susceptibility To, 1 |
|
Aganglionic megacolon, Abdominal distention, Enterocolitis, Constipation, Vomiting |
OMIM:142623 |
Thyroid Dyshormonogenesis 1 |
|
Macroglossia, Umbilical hernia |
OMIM:274400 |
Congenital Disorder Of Glycosylation, Type Iu |
|
Elevated hepatic transaminase, Thin upper lip vermilion, Respiratory distress, Neonatal respirato... |
OMIM:615042 |
Hereditary Pulmonary Alveolar Proteinosis |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Crazy paving pattern, C... |
ORPHA:264675 |
Volvulus Of Midgut |
|
Intestinal malrotation, Abdominal distention, Neonatal intestinal obstruction, Constipation, Volv... |
OMIM:193250 |
Lethal Osteosclerotic Bone Dysplasia |
|
Respiratory distress, Dyspnea, Gingival fibromatosis, Gingival overgrowth, Respiratory failure, M... |
ORPHA:1832 |
Primary Pulmonary Hypoplasia |
|
Recurrent respiratory infections, Neonatal respiratory distress, Cyanosis, Apnea, Asthma, Tachypn... |
ORPHA:2257 |
Inflammatory Skin And Bowel Disease, Neonatal, 2 |
|
Secretory diarrhea, Vomiting, Polyhydramnios, Dehydration |
OMIM:616069 |
Chromosome 6Q11-Q14 Deletion Syndrome |
|
Thin upper lip vermilion, Inguinal hernia, High palate, Long philtrum, Umbilical hernia, Smooth p... |
OMIM:613544 |
Small Bowel Atresia |
|
Intestinal hypoplasia, Jejunal atresia, Intestinal malrotation, Abdominal distention, Feeding dif... |
ORPHA:1201 |
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs |
|
Respiratory distress, Feeding difficulties in infancy, Abdominal distention, Macroglossia, Consti... |
ORPHA:226313 |
Autoimmune Pulmonary Alveolar Proteinosis |
|
Cyanosis, Crazy paving pattern, Crackles, Dyspnea, Intraalveolar phospholipid accumulation, Hypox... |
ORPHA:747 |
Split-Hand/Foot Malformation 3 |
|
Microretrognathia, Hypoplasia of the maxilla, Cleft palate, High palate, Narrow mouth |
OMIM:246560 |
Trochlea Of The Humerus, Aplasia Of |
|
Cleft palate |
OMIM:191000 |
Hypoglossia With Situs Inversus |
|
Respiratory distress, Feeding difficulties in infancy, Malnutrition, Upper airway obstruction, Hi... |
OMIM:612776 |
Pulmonary Non-Tuberculous Mycobacterial Infection |
|
Respiratory distress, Crackles, Dyspnea, Diarrhea, Chronic pulmonary obstruction, Pneumothorax, B... |
ORPHA:411703 |
Interstitial Lung Disease 1 |
|
Nonspecific interstitial pneumonia, Crackles, Ground-glass opacification, Intralobular septal thi... |
OMIM:619611 |
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Nasogastric tube feedin... |
ORPHA:254864 |
Isolated Cleft Lip |
|
Macrodontia, Bilateral cleft lip, Velopharyngeal insufficiency, Non-midline cleft lip, Hypodontia... |
ORPHA:199302 |
Intellectual Developmental Disorder, Autosomal Dominant 26 |
|
Inguinal hernia, Deep philtrum, Wide mouth, Short philtrum, Thick vermilion border, Narrow mouth,... |
OMIM:615834 |
Maculopapular Cutaneous Mastocytosis |
|
Abdominal pain, Dyspnea, Diarrhea, Erythema, Darier's sign, Dermatographic urticaria, Vomiting, E... |
ORPHA:79457 |
Letterer-Siwe Disease |
|
Abdominal distention, Jaundice, Dyspnea, Pulmonary infiltrates, Stomatitis |
OMIM:246400 |
Congenital Pulmonary Lymphangiectasia |
|
Respiratory distress, Cyanosis, Chronic pulmonary obstruction, Gastroesophageal reflux, Cough, Pu... |
ORPHA:2414 |
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type) |
|
Intestinal pseudo-obstruction, Abdominal pain, Malabsorption, Abdominal distention, Gastrointesti... |
OMIM:613662 |
Aminopterin Syndrome Sine Aminopterin |
|
Inguinal hernia, Cleft palate, Oligodontia, High palate, Umbilical hernia, Joint contracture of t... |
OMIM:600325 |
Van Der Woude Syndrome 2 |
|
Lip pit, Cleft upper lip, Dental malocclusion, Cleft palate, Hypodontia, Anodontia |
OMIM:606713 |
Acute Lung Injury |
|
Respiratory distress, Pneumonia, Diffuse alveolar hemorrhage, Dyspnea, Tachypnea, Abnormal pulmon... |
ORPHA:178320 |
Severe Acute Respiratory Syndrome |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Dyspnea, Hypoxemia, Acu... |
ORPHA:140896 |
Waardenburg Syndrome Type 3 |
|
Acrocyanosis, Atelectasis, Tented upper lip vermilion, Tracheomalacia |
ORPHA:896 |
Laryngeal Abductor Paralysis |
|
Stridor, Cyanosis, Dysphagia |
OMIM:150260 |
Staphylococcal Necrotizing Pneumonia |
|
Respiratory distress, Pneumonia, Nonproductive cough, Dyspnea, Tachypnea, Pneumothorax, Pulmonary... |
ORPHA:36238 |
Orofaciodigital Syndrome Type 5 |
|
Median cleft lip, Abnormality of the philtrum, Cleft soft palate, Accessory oral frenulum, Agangl... |
ORPHA:2919 |
Adducted Thumbs Syndrome |
|
High, narrow palate, Velopharyngeal insufficiency, Cleft palate, High palate, Arthrogryposis mult... |
OMIM:201550 |
Diabetes Mellitus, Transient Neonatal, 1 |
|
Dehydration |
OMIM:601410 |
Combined Oxidative Phosphorylation Deficiency 47 |
|
Long philtrum, Dehydration, Dysphagia |
OMIM:618958 |
Alpha-1-Antitrypsin Deficiency |
|
Elevated hepatic transaminase, Chronic bronchitis, Dyspnea, Wheezing, Chronic pulmonary obstructi... |
OMIM:613490 |
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis |
|
Umbilical hernia, Open mouth, Short philtrum, Abnormal oral cavity morphology |
ORPHA:1516 |
Athyreosis |
|
Macroglossia, Constipation, Abdominal distention, Feeding difficulties |
ORPHA:95713 |
Congenital Tufting Enteropathy |
|
Villous atrophy, Abnormal small intestinal mucosa morphology, Malabsorption, Abdominal distention... |
ORPHA:92050 |
Pulmonary Capillary Hemangiomatosis |
|
Cyanosis, Pulmonary edema, Diffuse alveolar hemorrhage, Ground-glass opacification, Dyspnea, Hemo... |
ORPHA:199241 |
Muscular Pseudohypertrophy-Hypothyroidism Syndrome |
|
Macroglossia, Umbilical hernia |
ORPHA:2349 |
Combined Malonic And Methylmalonic Acidemia |
|
Intermittent diarrhea, Vomiting, Dehydration, Nasogastric tube feeding |
ORPHA:289504 |
Bencze Syndrome |
|
Open bite, Submucous cleft hard palate |
ORPHA:1241 |
Contractures, Congenital, Torticollis, And Malignant Hyperthermia |
|
Arthrogryposis multiplex congenita, Natal tooth, Cleft palate |
OMIM:217150 |
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome |
|
Respiratory distress, Cyanosis |
ORPHA:91130 |
Frank-Ter Haar Syndrome |
|
Delayed eruption of teeth, Inguinal hernia, Camptodactyly of finger, Gingival overgrowth, Wide mo... |
ORPHA:137834 |
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome |
|
Delayed eruption of teeth, Abnormal dental morphology, Alveolar process hypoplasia, Hypodontia, M... |
ORPHA:2972 |
X-Linked Centronuclear Myopathy |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Recurrent respiratory i... |
ORPHA:596 |
Primary Hepatic Neuroendocrine Carcinoma |
|
Elevated hepatic transaminase, Intrahepatic cholestasis with episodic jaundice, Anorexia, Abdomin... |
ORPHA:100085 |
Van Der Woude Syndrome |
|
Lip pit, Cleft upper lip, Lower lip pit, Cleft palate, Hypodontia, Abnormal salivary gland morpho... |
ORPHA:888 |
Congenital Disorder Of Glycosylation, Type Ih |
|
Death in infancy, Abdominal distention, Diarrhea, Elevated circulating creatinine concentration, ... |
OMIM:608104 |
Reticular Dysgenesis |
|
Diarrhea, Dehydration, Malabsorption |
ORPHA:33355 |
Hemifacial Hyperplasia |
|
Hypoplasia of the maxilla, Dental malocclusion |
OMIM:133900 |
Cerebrooculofacioskeletal Syndrome 1 |
|
Delayed eruption of teeth, Micrognathia, Carious teeth, Dehydration, Death in childhood, Thin ver... |
OMIM:214150 |
Idiopathic Pulmonary Fibrosis |
|
Crackles, Ground-glass opacification, Bronchiectasis, Abnormal pulmonary interstitial morphology,... |
ORPHA:2032 |
Cardiocranial Syndrome, Pfeiffer Type |
|
Contracture of the proximal interphalangeal joint of the 2nd finger, High, narrow palate, Plantar... |
ORPHA:2872 |
Cap Polyposis |
|
Atrophic gastritis, Abdominal pain, Abdominal distention, Diarrhea, Hematochezia, Colorectal poly... |
ORPHA:160148 |
Congenital Lobar Emphysema |
|
Respiratory distress, Emphysema |
ORPHA:1928 |
Adams-Oliver Syndrome 4 |
|
Umbilical hernia |
OMIM:615297 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Nausea and vomiting, Anorexia, Abdominal pain, Dehydration, Feeding difficulties |
ORPHA:79312 |
Hydrocephaly-Tall Stature-Joint Laxity Syndrome |
|
Umbilical hernia, High, narrow palate |
ORPHA:2181 |
Radius, Aplasia Of, With Cleft Lip/Palate |
|
Cleft palate, Cleft upper lip |
OMIM:179400 |
Aarskog-Scott Syndrome |
|
Delayed eruption of teeth, Inguinal hernia, Camptodactyly of finger, Cleft upper lip, Abnormality... |
ORPHA:915 |
Restrictive Dermopathy 2 |
|
Microretrognathia, Cyanosis, Rectal prolapse, Hypoplastic facial bones, Feeding difficulties, Gas... |
OMIM:619793 |
Pulmonary Venoocclusive Disease 2, Autosomal Recessive |
|
Pulmonary venous occlusion, Dyspnea, Pulmonary capillary hemangiomatosis, Centrilobular ground-gl... |
OMIM:234810 |
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence |
|
Submucous cleft hard palate, Posteriorly placed tongue, Pierre-Robin sequence |
OMIM:192445 |
Mitochondrial Neurogastrointestinal Encephalomyopathy |
|
Elevated hepatic transaminase, Small intestinal dysmotility, Poor appetite, Abdominal pain, Atrop... |
ORPHA:298 |
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive |
|
Respiratory failure requiring assisted ventilation, Death in infancy, Respiratory insufficiency, ... |
OMIM:620265 |
Autism Spectrum Disorder Due To Auts2 Deficiency |
|
Inguinal hernia, Congenital contracture, Short philtrum, Joint contracture of the 5th finger, Nar... |
ORPHA:352490 |
Coffin-Siris Syndrome 11 |
|
Cleft soft palate, Esophageal atresia, Downturned corners of mouth, Wide mouth, High palate, Bifi... |
OMIM:618779 |
Maxillonasal Dysplasia |
|
Mandibular prognathia, Hypoplasia of the maxilla, Open bite, Cleft palate, Tooth agenesis, Microd... |
ORPHA:1248 |
Malignant Peritoneal Mesothelioma |
|
Dyspnea, Abdominal distention, Ileus, Abdominal pain |
ORPHA:168811 |
Anencephaly 2 |
|
Median cleft lip, Anencephaly, Median cleft palate, Cleft maxillary alveolar ridge |
OMIM:619452 |
Congenital Tracheomalacia |
|
Apnea, Tracheobronchomalacia, Gastroesophageal reflux, Cough, Emphysema, Neonatal respiratory dis... |
ORPHA:95430 |
Vitamin B12-Responsive Methylmalonic Acidemia |
|
Nausea and vomiting, Dehydration |
ORPHA:28 |
Achondrogenesis, Type Ib |
|
Abdominal distention, Stillbirth, Respiratory insufficiency |
OMIM:600972 |
Primary Ciliary Dyskinesia |
|
Recurrent sinopulmonary infections, Neonatal respiratory distress, Intestinal malrotation, Pulmon... |
ORPHA:244 |
Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema |
|
Respiratory distress, Tongue edema, Swollen lip, Angioedema, Erythema, Upper airway obstruction, ... |
ORPHA:100057 |
Spondylocostal Dysostosis 1, Autosomal Recessive |
|
Abdominal distention, Recurrent respiratory infections, Protuberant abdomen, Death in infancy |
OMIM:277300 |
Congenital Disorder Of Glycosylation, Type Iy |
|
Wide mouth, Widely spaced teeth, Respiratory distress, Feeding difficulties |
OMIM:300934 |
Qazi-Markouizos Syndrome |
|
High, narrow palate, Abdominal distention, Hypoplasia of teeth, Chronic constipation, Open mouth,... |
ORPHA:3010 |
Hereditary Angioedema Type 1 |
|
Respiratory distress, Tongue edema, Intestinal edema, Abdominal pain, Abnormal soft palate morpho... |
ORPHA:100050 |
Nipah Virus Disease |
|
Nausea and vomiting, Respiratory distress, Anorexia, Recurrent pharyngitis, Cough |
ORPHA:99825 |
Lujo Hemorrhagic Fever |
|
Elevated hepatic transaminase, Respiratory distress, Increased circulating lactate dehydrogenase ... |
ORPHA:319213 |
Distal Xq28 Microduplication Syndrome |
|
Predominantly lower limb lymphedema, Short lingual frenulum, Dental crowding, Aggressive behavior... |
ORPHA:293939 |
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome |
|
Respiratory distress |
ORPHA:171703 |
Transient Neonatal Diabetes Mellitus |
|
Macroglossia, Dehydration |
ORPHA:99886 |
Primary Peritoneal Carcinoma |
|
Nausea and vomiting, Abdominal distention, Constipation, Abdominal pain |
ORPHA:168829 |
Autosomal Agammaglobulinemia |
|
Sinusitis, Malabsorption, Diarrhea, Dehydration, High palate |
ORPHA:33110 |
Cyanosis, Transient Neonatal |
|
Jaundice, Cyanosis |
OMIM:613977 |
Mitochondrial Dna Depletion Syndrome, Myopathic Form |
|
Respiratory distress, Feeding difficulties in infancy, Respiratory insufficiency due to muscle we... |
ORPHA:254875 |
Intellectual Developmental Disorder, X-Linked, Syndromic 14 |
|
Mandibular prognathia, Hypoplasia of the maxilla, High palate, Chronic constipation |
OMIM:300676 |
Acquired Methemoglobinemia |
|
Respiratory distress, Cyanosis, Abdominal pain, Dyspnea, Hypoxemia, Vomiting |
ORPHA:464453 |
Liver Failure, Infantile, Transient |
|
Acute hepatic failure, Elevated hepatic transaminase, Death in infancy, Feeding difficulties in i... |
OMIM:613070 |
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome |
|
Spina bifida, Non-midline cleft lip, Anencephaly, Cleft palate, Ectopic anus, Gastroschisis |
ORPHA:2476 |
Microvillus Inclusion Disease |
|
Villous atrophy, Abdominal distention, Diarrhea, Dehydration, Abnormal small intestinal villus mo... |
ORPHA:2290 |
Ovarian Fibroma |
|
Abdominal distention, Odontogenic keratocysts of the jaw, Pleural effusion, Abdominal pain |
ORPHA:314473 |
Autosomal Dominant Hyper-Ige Syndrome |
|
Delayed eruption of teeth, Recurrent respiratory infections, Abnormality of the dentition, Atelec... |
ORPHA:2314 |
Achondrogenesis |
|
Umbilical hernia, Inguinal hernia, Long philtrum |
ORPHA:932 |
Sepsis In Premature Infants |
|
Cyanosis, Abnormal mucociliary clearance, Abdominal distention, Jaundice, Gastrointestinal dysmot... |
ORPHA:90051 |
Pneumocystosis |
|
Respiratory failure requiring assisted ventilation, Multiple pulmonary cysts, Nonproductive cough... |
ORPHA:723 |
Hypoadrenocorticism, Familial |
|
Feeding difficulties in infancy, Cyanosis, Vomiting, Apnea |
OMIM:240200 |
Glucose-Galactose Malabsorption |
|
Abdominal distention, Diarrhea, Hyperactive bowel sounds, Malnutrition, Dehydration, Vomiting |
ORPHA:35710 |
Breath-Holding Spells |
|
Cyanosis |
OMIM:607578 |
Imagawa-Matsumoto Syndrome |
|
Anteriorly placed anus, Umbilical hernia, Camptodactyly |
OMIM:618786 |
Farber Disease |
|
Elevated hepatic transaminase, Abnormal circulating enzyme concentration or activity, Respiratory... |
ORPHA:333 |
Postsynaptic Congenital Myasthenic Syndromes |
|
Orthopnea, Reduced vital capacity, Cyanosis, Restrictive ventilatory defect, Respiratory failure,... |
ORPHA:98913 |
Anaplastic Thyroid Carcinoma |
|
Respiratory distress, Dyspnea, Tracheoesophageal fistula, Dysphagia, Upper airway obstruction, St... |
ORPHA:142 |
Cryofibrinogenemia, Familial Primary |
|
Acrocyanosis |
OMIM:123540 |
Beta-Mercaptolactate Cysteine Disulfiduria |
|
Umbilical hernia, High palate |
ORPHA:1035 |
Folinic Acid-Responsive Seizures |
|
Respiratory distress, Abdominal distention, Apnea |
ORPHA:79097 |
Interstitial Lung Disease 2 |
|
Dyspnea, Alveolar cell carcinoma, Elevated bronchoalveolar lavage fluid neutrophil proportion, Pu... |
OMIM:178500 |
Bardet-Biedl Syndrome 16 |
|
Respiratory distress, Recurrent respiratory infections, Bronchiolitis |
OMIM:615993 |
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy) |
|
Respiratory distress, Diarrhea, Feeding difficulties, Aminoaciduria, Vomiting |
OMIM:612075 |
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked |
|
Respiratory distress, Respiratory insufficiency due to muscle weakness, Poor suck |
OMIM:300580 |
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia |
|
Diarrhea, Dehydration, Death in adolescence, Vomiting, Death in childhood |
OMIM:560000 |
Al Amyloidosis |
|
Gastrointestinal hemorrhage, Gastroparesis, Abdominal distention, Nonproductive cough, Dyspnea, X... |
ORPHA:85443 |
Lujan-Fryns Syndrome |
|
Dental crowding, Micrognathia, Hypoplasia of the maxilla, Abnormality of the dentition, High pala... |
ORPHA:776 |
N-Acetylglutamate Synthase Deficiency |
|
Respiratory distress, Vomiting, Aggressive behavior |
OMIM:237310 |
Niemann-Pick Disease, Type A |
|
Recurrent respiratory infections, Elevated circulating aspartate aminotransferase concentration, ... |
OMIM:257200 |
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2 |
|
Elevated hepatic transaminase, Respiratory insufficiency due to muscle weakness, Respiratory dist... |
OMIM:613561 |
Primary Hypomagnesemia With Hypercalciuria And Nephrocalcinosis With Severe Ocular Involvement |
|
Umbilical hernia, Inguinal hernia |
ORPHA:2196 |
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive |
|
Feeding difficulties in infancy, Diarrhea, Vomiting, Dehydration |
OMIM:264350 |
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 |
Solar Urticaria |
|
Dyspnea, Abnormal tongue morphology, Angioedema, Wheezing, Urticaria, Abnormal lip morphology, De... |
ORPHA:97230 |
Rin2 Syndrome |
|
Irregular dentition, Gingival overgrowth, Abnormal lip morphology, High palate, Long philtrum, Um... |
ORPHA:217335 |
Congenital Diaphragmatic Hernia |
|
Hypoxemia, Pulmonary hypoplasia, Intestinal malrotation, Respiratory distress |
ORPHA:2140 |
Achondrogenesis Type 1B |
|
Umbilical hernia, Femoral hernia, Long philtrum |
ORPHA:93298 |
Neurodevelopmental Disorder With Hypotonia, Impaired Language, And Dysmorphic Features |
|
Thin upper lip vermilion, Tented upper lip vermilion, Diastasis recti, High palate, Short philtru... |
OMIM:616579 |
Congenital Heart Block |
|
Cyanosis, Feeding difficulties in infancy, Pericardial effusion, Hydrops fetalis, Peripheral edem... |
ORPHA:60041 |
Growth Retardation, Developmental Delay, And Facial Dysmorphism |
|
Protruding tongue, Alveolar ridge overgrowth, Cleft palate, Thin vermilion border, Umbilical hern... |
OMIM:612938 |
Classic Glucose Transporter Type 1 Deficiency Syndrome |
|
Central apnea, Cyanosis |
ORPHA:71277 |
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked |
|
Intestinal pseudo-obstruction, Intestinal malrotation, Feeding difficulties in infancy, Pyloric s... |
OMIM:300048 |
Wolman Disease |
|
Nausea and vomiting, Abdominal distention, Malnutrition, Esophageal varix, Steatorrhea, Hepatic f... |
ORPHA:75233 |
Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Respiratory distress, Abnormal circulating enzyme concentration or activity, Orthopnea, Bowel inc... |
ORPHA:365 |
Ankyloblepharon Filiforme Adnatum-Cleft Palate Syndrome |
|
Cleft palate, Non-midline cleft lip, Lip pit |
ORPHA:1072 |
Robinow Syndrome, Autosomal Dominant 2 |
|
Thin upper lip vermilion, Dental crowding, Cleft soft palate, Abnormality of the dentition, Denta... |
OMIM:616331 |
Cleft, Median, Of Upper Lip With Polyps Of Facial Skin And Nasal Mucosa |
|
Median cleft lip, High palate, Bifid uvula, Midline central nervous system lipomas |
OMIM:155145 |
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly |
|
Hypoplasia of the maxilla, Premature loss of teeth, Thin vermilion border, Short philtrum |
OMIM:156510 |
Idiopathic Bronchiectasis |
|
Crackles, Productive cough, Respiratory tract infection, Dyspnea, Wheezing, Abnormal respiratory ... |
ORPHA:60033 |
Ehlers-Danlos Syndrome, Periodontal Type, 1 |
|
Inguinal hernia, Alveolar bone loss around teeth, Hiatus hernia, Intestinal perforation, Atrophic... |
OMIM:130080 |
Achondrogenesis Type 1A |
|
Umbilical hernia, Femoral hernia, Long philtrum |
ORPHA:93299 |
Kdm5C-Related Syndromic X-Linked Intellectual Disability |
|
Hypoplasia of the maxilla, High palate, Aggressive behavior |
ORPHA:85279 |
Surfactant Metabolism Dysfunction, Pulmonary, 5 |
|
Ground-glass opacification, Dyspnea, Intraalveolar phospholipid accumulation, Respiratory insuffi... |
OMIM:614370 |
Dental Anomalies And Short Stature |
|
Mandibular prognathia, Hypoplasia of the maxilla, Oligodontia, Widely spaced teeth, Microdontia, ... |
OMIM:601216 |
Shigellosis |
|
Anorexia, Abdominal pain, Intestinal perforation, Peritonitis, Ulcerative colitis, Bloody diarrhe... |
ORPHA:810 |
Coenzyme Q10 Deficiency, Primary, 8 |
|
Respiratory distress, Elevated circulating creatinine concentration, Pulmonary hypoplasia, Feedin... |
OMIM:616733 |
Esophageal Atresia |
|
Respiratory distress, Bronchitis, Feeding difficulties in infancy, Gastrointestinal dysmotility, ... |
ORPHA:1199 |
Meckel Syndrome, Type 8 |
|
Abdominal distention, Cleft palate, Cleft upper lip |
OMIM:613885 |
Isolated Childhood Apraxia Of Speech |
|
High, narrow palate, Submucous cleft hard palate |
ORPHA:209908 |
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type) |
|
Fulminant hepatic failure, Elevated circulating aspartate aminotransferase concentration, Abdomin... |
OMIM:618528 |
Pulmonary Alveolar Microlithiasis |
|
Bronchitis, Nonproductive cough, Tachypnea, Oxygen desaturation on exertion, Respiratory tract in... |
ORPHA:60025 |
Intellectual Developmental Disorder, Autosomal Dominant 43 |
|
Thin upper lip vermilion, Gingival overgrowth, High palate, Short philtrum, Increased overbite, N... |
OMIM:616977 |
Mandibulofacial Dysostosis With Alopecia |
|
Dental crowding, Delayed eruption of primary teeth, Micrognathia, Hypoplasia of the maxilla, Tris... |
OMIM:616367 |
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome |
|
Umbilical hernia, Non-midline cleft lip, Abnormality of the philtrum, Cleft palate |
ORPHA:1770 |
Mirizzi Syndrome |
|
Elevated hepatic transaminase, Abdominal colic, Anorexia, Abdominal pain, Abdominal distention, J... |
ORPHA:521219 |
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome |
|
Mandibular prognathia, Hypoplasia of the maxilla, Hyperactivity, Crowded maxillary incisors |
ORPHA:397973 |
Robinow Syndrome, Autosomal Recessive 2 |
|
Ventral hernia, Omphalocele, Cleft soft palate, Abnormality of the dentition, Gingival overgrowth... |
OMIM:618529 |
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Elevated hepatic transaminase, Respiratory distress, Death in infancy, Hypertyrosinemia, Abdomina... |
OMIM:617156 |
Axenfeld-Rieger Syndrome, Type 2 |
|
Inguinal hernia, Anal stenosis, Short philtrum, Everted lower lip vermilion, Hypodontia, Microdon... |
OMIM:601499 |
Hereditary Methemoglobinemia |
|
Lip discoloration, Cyanosis, Exertional dyspnea |
ORPHA:621 |
Obesity-Hypoventilation Syndrome |
|
Hypoventilation, Cyanosis |
OMIM:257500 |
Cystinosis |
|
Malabsorption, Dehydration, Vomiting, Polydipsia, Abnormal repetitive mannerisms |
ORPHA:213 |
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
|
Hypoventilation, Protruding tongue, Intercostal muscle weakness, Atelectasis, Respiratory insuffi... |
ORPHA:258 |
Cholesteryl Ester Storage Disease |
|
Acute hepatic failure, Death in infancy, Elevated circulating aspartate aminotransferase concentr... |
OMIM:278000 |
Pseudohypoaldosteronism, Type I, Autosomal Dominant |
|
Diarrhea, Vomiting, Dehydration, Feeding difficulties |
OMIM:177735 |
Snijders Blok-Campeau Syndrome |
|
Inguinal hernia, Taurodontia, Widely spaced teeth, High palate, Umbilical hernia, Enamel hypoplasia |
OMIM:618205 |
Microcephaly 30, Primary, Autosomal Recessive |
|
Thin upper lip vermilion, Inguinal hernia, Pierre-Robin sequence, Cleft soft palate |
OMIM:620183 |
Malaria |
|
Nausea and vomiting, Respiratory distress |
ORPHA:673 |
Thyroid Hypoplasia |
|
Macroglossia, Jaundice, Constipation, Abdominal distention |
ORPHA:95720 |
Succinic Acidemia |
|
Respiratory distress |
OMIM:600335 |
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant |
|
Respiratory distress, Death in infancy, Gastrostomy tube feeding in infancy, Feeding difficulties... |
OMIM:620278 |
Chronic Beryllium Disease |
|
Lymphocytic interstitial pneumonia, Ground-glass opacification, Dyspnea, Hypersensitivity pneumon... |
ORPHA:133 |
Mesomelia-Synostoses Syndrome |
|
Aplasia/Hypoplasia of the uvula, High, narrow palate, Abnormal oral frenulum morphology, Narrow m... |
ORPHA:2496 |
Pelger-Huet Anomaly |
|
Umbilical hernia, Abnormality of the dentition, Median cleft palate, Gingival overgrowth |
OMIM:169400 |
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9 |
|
Respiratory distress, Death in infancy, Neonatal respiratory distress, Cyanosis, Apnea, Feeding d... |
OMIM:618426 |
Autosomal Recessive Distal Osteolysis Syndrome |
|
Hypoplasia of the maxilla, Abnormality of the dentition |
ORPHA:2776 |
Bladder Exstrophy |
|
Omphalocele, Inguinal hernia, Intestinal malrotation, Umbilical hernia, Bladder exstrophy, Abnorm... |
ORPHA:93930 |
Silver-Russell Syndrome Due To 11P15 Microduplication |
|
Umbilical hernia |
ORPHA:231144 |
Visceral Myopathy, Familial, With External Ophthalmoplegia |
|
Spontaneous esophageal perforation, Gastroparesis, Abdominal pain, Abdominal distention, Malnutri... |
OMIM:277320 |
Peripheral Motor Neuropathy-Dysautonomia Syndrome |
|
Achalasia, Acrocyanosis |
ORPHA:2400 |
Harlequin Ichthyosis |
|
Eclabion, Self-injurious behavior, Dehydration |
ORPHA:457 |
Benign Familial Infantile Epilepsy |
|
Cyanosis, Apnea |
ORPHA:306 |
Brown-Vialetto-Van Laere Syndrome 1 |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Tongue atrophy, Recurre... |
OMIM:211530 |
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss |
|
Vomiting, Dehydration |
OMIM:602722 |
Alternating Hemiplegia Of Childhood |
|
Exaggerated cupid's bow, Anorexia, Oral-pharyngeal dysphagia, Aggressive behavior, Abdominal dist... |
ORPHA:2131 |
Isovaleric Acidemia |
|
Vomiting, Dehydration |
OMIM:243500 |
Hypercalcemia, Infantile, 1 |
|
Vomiting, Dehydration |
OMIM:143880 |
Corticosterone Methyloxidase Type I Deficiency |
|
Feeding difficulties in infancy, Vomiting, Dehydration |
OMIM:203400 |
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy |
|
Respiratory distress |
OMIM:619099 |
Inflammatory Pseudotumor Of The Liver |
|
Elevated circulating aspartate aminotransferase concentration, Abdominal pain, Abdominal distenti... |
ORPHA:90003 |
Hypomandibular Faciocranial Dysostosis |
|
Pursed lips, Micrognathia, Hypoplasia of the maxilla, Aglossia, Malar flattening |
OMIM:241310 |
Luo-Schoch-Yamamoto Syndrome |
|
Wide mouth, Widely-spaced maxillary central incisors, Thick vermilion border, Short philtrum, Nar... |
OMIM:619460 |
Diabetes Insipidus, Nephrogenic, 2, Autosomal |
|
Feeding difficulties in infancy, Hypertonic dehydration, Constipation, Vomiting, Polydipsia |
OMIM:125800 |
Diabetes Insipidus, Nephrogenic, 1, X-Linked |
|
Feeding difficulties in infancy, Hypertonic dehydration, Constipation, Vomiting, Polydipsia |
OMIM:304800 |
Stickler Syndrome Type 1 |
|
Hypoplasia of the maxilla, Cleft palate, Long philtrum |
ORPHA:90653 |
Idiopathic Congenital Hypothyroidism |
|
Macroglossia, Umbilical hernia |
ORPHA:95717 |
Sialidosis Type 2 |
|
Umbilical hernia, Inguinal hernia, Flexion contracture |
ORPHA:87876 |
Mucopolysaccharidosis, Type Ix |
|
Submucous cleft hard palate, Bifid uvula, Chondrocalcinosis |
OMIM:601492 |
Intestinal Botulism |
|
Nausea and vomiting, Death in infancy, Respiratory insufficiency due to muscle weakness, Dyspnea,... |
ORPHA:178481 |
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency |
|
Downturned corners of mouth, Arthrogryposis-like hand anomaly, Macroglossia, Wide mouth, High pal... |
ORPHA:369891 |
Gallbladder Neuroendocrine Tumor |
|
Anorexia, Abdominal distention, Intermittent jaundice, Episodic abdominal pain, Elevated gamma-gl... |
ORPHA:100086 |
Donnai-Barrow Syndrome |
|
Omphalocele, Umbilical hernia, Intestinal malrotation, Congenital diaphragmatic hernia |
ORPHA:2143 |
Thyroid Lymphoma |
|
Respiratory distress, Dyspnea, Upper airway obstruction, Stridor, Dysphagia |
ORPHA:97285 |
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6 |
|
Respiratory distress, Paradoxical respiration, High palate, Recurrent acute respiratory tract inf... |
OMIM:620011 |
Encephalopathy, Ethylmalonic |
|
Death in infancy, Chronic diarrhea, Feeding difficulties, Acrocyanosis, Petechiae |
OMIM:602473 |
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
|
Elevated hepatic transaminase, Abdominal distention |
ORPHA:369 |
Lead Poisoning |
|
Delayed eruption of teeth, Miscarriage, Anorexia, Abdominal pain, Abdominal distention, Asthma, A... |
ORPHA:330015 |
Progressive Supranuclear Palsy-Parkinsonism Syndrome |
|
Respiratory distress, Neuromuscular dysphagia |
ORPHA:240085 |
Greig Cephalopolysyndactyly Syndrome |
|
Umbilical hernia, Congenital diaphragmatic hernia |
ORPHA:380 |
Congenital Contractures Of The Limbs And Face, Hypotonia, And Developmental Delay |
|
Hip contracture, Inguinal hernia, Pursed lips, Elbow flexion contracture, Knee flexion contractur... |
OMIM:616266 |
Mitochondrial Pyruvate Carrier Deficiency |
|
Respiratory distress, Thin upper lip vermilion, Long philtrum |
OMIM:614741 |
Combined Oxidative Phosphorylation Deficiency 19 |
|
Respiratory distress, Elevated circulating aspartate aminotransferase concentration, Elevated cir... |
OMIM:615595 |
Joint Laxity, Short Stature, And Myopia |
|
Umbilical hernia, Inguinal hernia |
OMIM:617662 |
Houge-Janssens Syndrome 3 |
|
Umbilical hernia, Inguinal hernia, High palate, Short philtrum |
OMIM:618354 |
Short-Rib Thoracic Dysplasia 12 |
|
Natal tooth, Median cleft lip, Intestinal malrotation, Hamartoma of tongue, Atelectasis, Respirat... |
OMIM:269860 |
Opitz Gbbb Syndrome |
|
Anal atresia, Inguinal hernia, Thin upper lip vermilion, Cleft upper lip, Rectourethral fistula, ... |
OMIM:300000 |
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency |
|
Respiratory distress, Poor appetite, Reye syndrome-like episodes, Diarrhea, Feeding difficulties,... |
ORPHA:927 |
Schisis Association |
|
Omphalocele, Encephalocele, Spina bifida, Congenital diaphragmatic hernia, Anencephaly, Tracheoes... |
ORPHA:63862 |
Double Outlet Right Ventricle |
|
Cyanosis, Intestinal malrotation, Submucous cleft hard palate, Tachypnea, Cleft palate, Feeding d... |
ORPHA:3426 |
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Thin upper lip vermilion, Death in infancy, Abdominal distention, Pulmonary lymphangiectasia, Alv... |
OMIM:235255 |
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive |
|
Vomiting, Dehydration |
OMIM:620126 |
Smith-Kingsmore Syndrome |
|
Thin upper lip vermilion, Diastasis recti, Wide mouth, Long philtrum, Umbilical hernia, Open mout... |
OMIM:616638 |
X-Linked Intellectual Disability, Sutherland-Haan Type |
|
Mandibular prognathia, Hypoplasia of the maxilla, Anal atresia |
ORPHA:93950 |
Zygomycosis |
|
Sinusitis, Acute infectious pneumonia, Air crescent sign, Unusual gastrointestinal infection, Col... |
ORPHA:73263 |
Benign Familial Neonatal Epilepsy |
|
Circumoral cyanosis, Gastroesophageal reflux, Apnea |
ORPHA:1949 |
Xp22.13P22.2 Duplication Syndrome |
|
Umbilical hernia, High palate, Congenital diaphragmatic hernia |
ORPHA:284180 |
Progeroid Syndrome, Petty Type |
|
Reduced subcutaneous adipose tissue, Lipoatrophy, Tooth agenesis, Everted lower lip vermilion, Um... |
ORPHA:2963 |
Short Chain Acyl-Coa Dehydrogenase Deficiency |
|
Respiratory distress, Feeding difficulties |
ORPHA:26792 |
Cutis Laxa, Autosomal Recessive, Type Ic |
|
Death in infancy, Progeroid facial appearance, Pyloric stenosis, Rectal prolapse, Recurrent pneum... |
OMIM:613177 |
Propionic Acidemia |
|
Poor appetite, Feeding difficulties in infancy, Dehydration, Constipation, Vomiting |
OMIM:606054 |
Laryngomalacia |
|
Respiratory distress, Congenital laryngeal stridor |
OMIM:150280 |
Ciliary Dyskinesia, Primary, 1 |
|
Pneumonia, Atelectasis, Bronchiectasis, Immotile cilia, Chronic rhinitis, Ciliary dyskinesia, Chr... |
OMIM:244400 |
Cardiomyopathy, Dilated, 1Gg |
|
Respiratory distress |
OMIM:613642 |
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Respiratory distress, Abnormal circulating enzyme concentration or activity, Respiratory failure ... |
ORPHA:308552 |
Carnitine Deficiency, Systemic Primary |
|
Diarrhea, Vomiting, Dehydration |
OMIM:212140 |
Orofaciodigital Syndrome Xix |
|
Cleft soft palate, Accessory oral frenulum, Carious teeth, Narrow palate, Downturned corners of m... |
OMIM:620107 |
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome |
|
Umbilical hernia, Thin vermilion border, Long philtrum |
ORPHA:171839 |
Methylmalonyl-Coa Epimerase Deficiency |
|
Gastroesophageal reflux, Dehydration |
OMIM:251120 |
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form |
|
Gastrostomy tube feeding in infancy, Feeding difficulties in infancy, Micrognathia, Cyanotic epis... |
ORPHA:284417 |
Diffuse Alveolar Hemorrhage |
|
Respiratory failure requiring assisted ventilation, Ground-glass opacification, Dyspnea, Increase... |
ORPHA:90060 |
Hyperimmunoglobulinemia D With Periodic Fever |
|
Gastrointestinal hemorrhage, Intestinal obstruction, Abdominal pain, Diarrhea, Erythema, Peritoni... |
ORPHA:343 |
Idiopathic Hypereosinophilic Syndrome |
|
Respiratory distress, Pulmonary embolism, Feeding difficulties in infancy, Colitis, Vomiting, Cou... |
ORPHA:3260 |
Cortical Dysplasia, Complex, With Other Brain Malformations 15 |
|
Hypoplasia of the maxilla, Thin upper lip vermilion, Smooth philtrum, Widely-spaced incisors |
OMIM:618737 |
Mercury Poisoning |
|
Respiratory distress, Anorexia, Dyspnea, Episodic abdominal pain, Respiratory failure, Interstiti... |
ORPHA:330021 |
Down Syndrome |
|
Aganglionic megacolon, Protruding tongue, Abnormality of the dentition, Thick lower lip vermilion... |
ORPHA:870 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Death in infancy, Micrognathia, Jaundice, Dehydration, Oligohydramnios |
OMIM:208085 |
Diaphanospondylodysostosis |
|
Respiratory distress, Cleft palate |
ORPHA:66637 |
Cirrhosis, Familial |
|
Abdominal distention, Jaundice, Fulminant hepatitis, Esophageal varix, Pulmonary arterial hyperte... |
OMIM:215600 |
Cardiomyopathy, Dilated, 2H |
|
Neonatal death, Tachypnea, Cardiorespiratory arrest, Feeding difficulties |
OMIM:620203 |
Gaucher Disease, Type Ii |
|
Death in infancy, Apnea, Cough, Feeding difficulties, Stridor, Gastroesophageal reflux, Protubera... |
OMIM:230900 |
Autosomal Recessive Spondylocostal Dysostosis |
|
Inguinal hernia, Camptodactyly of finger, Congenital diaphragmatic hernia, Meningocele, Cleft pal... |
ORPHA:2311 |
Slc35A1-Cdg |
|
Respiratory distress, Pneumonia, Hypoxemia, Subcutaneous hemorrhage, Pulmonary hemorrhage |
ORPHA:238459 |
Hereditary Hyperekplexia |
|
Umbilical hernia, Esophagitis, Hernia, Hiatus hernia |
ORPHA:3197 |
Acrocallosal Syndrome |
|
Downturned corners of mouth, High palate, Short philtrum, Prominent palatine ridges, Bifid uvula,... |
OMIM:200990 |
Schwartz-Jampel Syndrome, Type 1 |
|
Hip contracture, Inguinal hernia, Pursed lips, Shoulder flexion contracture, Deep philtrum, High ... |
OMIM:255800 |
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin |
|
Umbilical hernia, Dental crowding, Persistence of primary teeth, Hiatus hernia |
OMIM:619769 |
Beta-Ketothiolase Deficiency |
|
Anorexia, Edema, Diarrhea, Dehydration, Vomiting, Agitation, Oral aversion |
ORPHA:134 |
Oculocerebrofacial Syndrome, Kaufman Type |
|
Respiratory distress, High, narrow palate, Dyspnea, Feeding difficulties, Wide mouth, Abnormal up... |
ORPHA:2707 |
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome |
|
Thin upper lip vermilion, Inguinal hernia, Diastema, Downturned corners of mouth, Wide mouth, Umb... |
ORPHA:329224 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 23 |
|
Death in infancy, Hypoventilation, Abdominal distention, Feeding difficulties, Gastroesophageal r... |
OMIM:620275 |
Lymphangioleiomyomatosis |
|
Gastrointestinal hemorrhage, Recurrent respiratory infections, Abdominal pain, Dyspnea, Atelectas... |
ORPHA:538 |
Osteootohepatoenteric Syndrome |
|
Ileoileal intussusception, Villous atrophy, Increased intestinal transit time, Abdominal pain, Se... |
OMIM:619377 |
Mandibulofacial Dysostosis-Microcephaly Syndrome |
|
Accessory oral frenulum, Micrognathia, Hypoplasia of the maxilla, Cleft palate, Feeding difficult... |
ORPHA:79113 |
Neurodevelopmental Disorder With Or Without Autism Or Seizures |
|
Hyperactivity, Submucous cleft hard palate, Bifid uvula, Feeding difficulties |
OMIM:619239 |
Pediatric Systemic Lupus Erythematosus |
|
Abdominal pain, Abdominal distention, Diarrhea, Dyspnea, Oral ulcer, Vomiting, Increased circulat... |
ORPHA:93552 |
Imperforate Oropharynx-Costovertebral Anomalies Syndrome |
|
Respiratory distress, Recurrent respiratory infections, Abnormality of the philtrum, Aplasia/Hypo... |
ORPHA:2759 |
Achondrogenesis, Type Ii |
|
Microretrognathia, Polyhydramnios, Edema, Hydrops fetalis, Cleft palate, Stillbirth, Protuberant ... |
OMIM:200610 |
Intellectual Disability, Buenos-Aires Type |
|
Abnormal dental morphology, Open bite, Dental malocclusion, High palate, Umbilical hernia |
ORPHA:3079 |
Acute Intermittent Porphyria |
|
Nausea and vomiting, Abnormal circulating enzyme concentration or activity, Restlessness, Abdomin... |
ORPHA:79276 |
Frontonasal Dysplasia 1 |
|
Median cleft lip, Hypoplasia of the maxilla, Hypoplastic frontal sinuses, Widely-spaced maxillary... |
OMIM:136760 |
Auriculocondylar Syndrome |
|
Respiratory distress, Dental crowding, Hamartoma of tongue, Narrow mouth, Microglossia, Dental ma... |
ORPHA:137888 |
Tularemia |
|
Respiratory distress, Abnormal pulmonary thoracic imaging finding, Pneumonia, Oral ulcer, Pulmona... |
ORPHA:3392 |
Visceral Myopathy 1 |
|
Intestinal pseudo-obstruction, Aganglionic megacolon, Gastroparesis, Abdominal pain, Abdominal di... |
OMIM:155310 |
Sarcoidosis, Susceptibility To, 2 |
|
Dyspnea, Pneumothorax, Bronchiectasis, Abnormal pulmonary interstitial morphology, Pulmonary infi... |
OMIM:612387 |
Angelman Syndrome |
|
Mandibular prognathia, Hyperactivity, Protruding tongue, Hypoplasia of the maxilla, Feeding diffi... |
OMIM:105830 |
Chiari Malformation Type Ii |
|
Cyanosis, Feeding difficulties, Inspiratory stridor, Dysphagia |
OMIM:207950 |
Multiple Benign Circumferential Skin Creases On Limbs |
|
Umbilical hernia, Inguinal hernia, Cleft palate, Long philtrum |
ORPHA:2505 |
Cleft Larynx, Posterior |
|
Aspiration, Cyanosis |
OMIM:215800 |
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor |
|
Umbilical hernia, Inguinal hernia |
OMIM:618272 |
Combined Oxidative Phosphorylation Defect Type 23 |
|
Cyanosis, Feeding difficulties in infancy, Stridor, Respiratory failure, Paroxysmal dyspnea |
ORPHA:444013 |
Hsd10 Disease, Infantile Type |
|
Abnormal circulating enzyme concentration or activity, Restlessness, Cyanosis, Gastrointestinal d... |
ORPHA:391428 |
Synaptic Congenital Myasthenic Syndromes |
|
Respiratory distress, Abnormal circulating enzyme concentration or activity, Hypoventilation, Neo... |
ORPHA:98915 |
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic |
|
Cyanosis, Apnea, Elevated circulating alanine aminotransferase concentration, Hepatic failure |
OMIM:261680 |
Oculocerebrorenal Syndrome Of Lowe |
|
Dental crowding, Feeding difficulties in infancy, Deep philtrum, Gingivitis, Aminoaciduria, Perio... |
ORPHA:534 |
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion |
|
Omphalocele, Inguinal hernia, Exaggerated cupid's bow, Diastasis recti, Large placenta, Flexion c... |
ORPHA:254528 |
Pulmonary Arteriovenous Malformation |
|
Cyanosis, Epistaxis, Dyspnea, Telangiectasia, Hypoxemia, Gastrointestinal infarctions, Pleural em... |
ORPHA:2038 |
Cantu Syndrome |
|
Thick lower lip vermilion, Gingival overgrowth, Long philtrum, Umbilical hernia, Thick upper lip ... |
OMIM:239850 |
Vitamin B12-Unresponsive Methylmalonic Acidemia |
|
Nausea and vomiting, Dehydration |
ORPHA:27 |
Fanconi-Bickel Syndrome |
|
Reduced subcutaneous adipose tissue, Elevated circulating aspartate aminotransferase concentratio... |
OMIM:227810 |
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome |
|
Camptodactyly of finger, High, narrow palate, Submucous cleft hard palate, Glossoptosis, Hypodontia |
ORPHA:3201 |
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures |
|
Cyanosis, Apnea, Impulsivity, Protruding tongue, Aggressive behavior, Tongue thrusting, Attention... |
OMIM:619580 |
20P12.3 Microdeletion Syndrome |
|
Hypoplasia of the maxilla, Malar flattening, Narrow mouth, Long philtrum |
ORPHA:261295 |
Congenital Fibrinogen Deficiency |
|
Cyanosis, Abdominal pain, Gingival bleeding, Volvulus, Bruising susceptibility, Subcutaneous hemo... |
ORPHA:335 |
Hyperchlorhidrosis, Isolated |
|
Hypernatremic dehydration, Feeding difficulties |
OMIM:143860 |
Desmoplastic Small Round Cell Tumor |
|
Nausea and vomiting, Abdominal pain, Abdominal distention, Ileus, Neoplasm of the lung |
ORPHA:83469 |
Hereditary Fructose Intolerance |
|
Reduced circulating aldolase concentration, Nausea, Abdominal pain, Abdominal distention, Jaundic... |
ORPHA:469 |
Paternal 20Q13.2Q13.3 Microdeletion Syndrome |
|
Respiratory distress, Thin vermilion border, Short philtrum, Feeding difficulties |
ORPHA:261304 |
Spondylometaphyseal Dysplasia, Schmidt Type |
|
Cleft soft palate, Polyhydramnios, Micrognathia, Nasogastric tube feeding in infancy, Gastroesoph... |
ORPHA:93316 |
Tatton-Brown-Rahman Syndrome |
|
Everted upper lip vermilion, Exaggerated cupid's bow, Deep philtrum, Thin vermilion border, Umbil... |
OMIM:615879 |
Deafness-Intellectual Disability Syndrome, Martin-Probst Type |
|
Abnormality of the dentition, Thick lower lip vermilion, Dental malocclusion, Wide mouth, Everted... |
ORPHA:85321 |
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly |
|
Respiratory distress, Carious teeth, Thick vermilion border, Widely spaced teeth, Protuberant abd... |
OMIM:617102 |
Acrocephalopolydactyly |
|
Protuberant abdomen |
ORPHA:221054 |
Greig Cephalopolysyndactyly Syndrome |
|
Camptodactyly of toe, Umbilical hernia, Inguinal hernia, Joint contracture of the hand |
OMIM:175700 |
Agnathia-Otocephaly Complex |
|
Respiratory distress, Aglossia, Cleft palate, Pulmonary hypoplasia, Narrow mouth, Tracheomalacia,... |
OMIM:202650 |
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation |
|
Omphalocele, Large placenta, Umbilical hernia, Diastasis recti |
ORPHA:254534 |
Peritoneal Cystic Mesothelioma |
|
Abdominal distention, Constipation, Abdominal pain |
ORPHA:168816 |
Pearson Marrow-Pancreas Syndrome |
|
Villous atrophy, Anorexia, Malabsorption, Chronic diarrhea, Erythema, Hydrops fetalis, Dehydratio... |
OMIM:557000 |
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate |
|
Selective tooth agenesis, Conical tooth, Hypoplasia of the maxilla, Nasogastric tube feeding in i... |
OMIM:106260 |
Cholera |
|
Miscarriage, Achlorhydria, Abdominal pain, Diarrhea, Dehydration, Abdominal cramps, Vomiting, Pal... |
ORPHA:173 |
X-Linked Intellectual Disability, Porteous Type |
|
Mandibular prognathia, Hypoplasia of the maxilla, Short philtrum |
ORPHA:93945 |
Intellectual Developmental Disorder, Autosomal Dominant 70 |
|
Mandibular prognathia, Micrognathia, Hypoplasia of the maxilla, Retinal telangiectasia, Feeding d... |
OMIM:620157 |
Spastic Paraplegia 16, X-Linked |
|
Hypoplasia of the maxilla, Restlessness |
OMIM:300266 |
Early-Onset Familial Hypoaldosteronism |
|
Vomiting, Dehydration, Feeding difficulties |
ORPHA:556030 |
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome |
|
Elevated hepatic transaminase, Crackles, Portal hypertension, Abnormal pleura morphology, Dyspnea... |
ORPHA:210136 |
Anterior Cutaneous Nerve Entrapment Syndrome |
|
Anorexia, Abdominal pain, Abdominal distention, Recurrent infection of the gastrointestinal tract... |
ORPHA:51890 |
Eosinophilic Granulomatosis With Polyangiitis |
|
Nausea and vomiting, Intestinal obstruction, Sinusitis, Cutis marmorata, Recurrent intrapulmonary... |
ORPHA:183 |
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy |
|
Elevated hepatic transaminase, Thin upper lip vermilion, Respiratory distress, Recurrent respirat... |
ORPHA:329178 |
Tricuspid Atresia |
|
Pulmonary artery atresia, Cyanosis |
ORPHA:1209 |
Dend Syndrome |
|
Downturned corners of mouth, Vomiting, Dehydration, Long philtrum |
ORPHA:79134 |
Meckel Syndrome 14 |
|
Microretrognathia, Cyanosis, Micrognathia, Abdominal distention, Increased nuchal translucency, P... |
OMIM:619879 |
Hydrolethalus |
|
Polyhydramnios, Micrognathia, Submucous cleft hard palate, Cleft palate, Gingival cleft, Unilater... |
ORPHA:2189 |
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities |
|
Respiratory distress, Recurrent respiratory infections, Tented upper lip vermilion, Feeding diffi... |
OMIM:619383 |
Platyspondylic Dysplasia, Torrance Type |
|
Abdominal distention, Pulmonary hypoplasia, Cleft palate |
ORPHA:85166 |
Rapp-Hodgkin Syndrome |
|
Conical tooth, Hypoplasia of the maxilla, Anhidrotic ectodermal dysplasia, Carious teeth, Velopha... |
OMIM:129400 |
Congenital Disorder Of Glycosylation, Type Ix |
|
Respiratory distress, Death in childhood, Feeding difficulties |
OMIM:615597 |
Distal Deletion 19P |
|
Vaginal hernia, Cleft palate, Umbilical hernia, Short philtrum, Keloids |
ORPHA:96129 |
Lymphatic Malformation 7 |
|
Respiratory distress, Abdominal distention, Chylothorax, Pleural effusion, Pulmonary edema |
OMIM:617300 |
Familial Visceral Myopathy |
|
Aganglionic megacolon, Camptodactyly of finger, Aplasia/Hypoplasia of the abdominal wall musculat... |
ORPHA:2604 |
Nager Syndrome |
|
Micrognathia, Hypoplasia of the maxilla, Non-midline cleft lip, Cleft palate, Wide mouth, Hypopla... |
ORPHA:245 |
Velocardiofacial Syndrome |
|
Inguinal hernia, Velopharyngeal insufficiency, Submucous cleft hard palate, Pierre-Robin sequence... |
OMIM:192430 |
Chromosome 17Q12 Duplication Syndrome |
|
Esophageal atresia, Cleft soft palate, Smooth philtrum |
OMIM:614526 |
Chitayat Syndrome |
|
Respiratory distress, Recurrent respiratory infections, Abnormal pulmonary interstitial morpholog... |
OMIM:617180 |
Lamellar Ichthyosis |
|
Everted lower lip vermilion, Dehydration, Abnormality of the dentition |
ORPHA:313 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type |
|
Thin upper lip vermilion, Hyperactivity, Dental crowding, Micrognathia, Hypoplasia of the maxilla... |
OMIM:309520 |
Oculogastrointestinal Muscular Dystrophy |
|
Spontaneous esophageal perforation, Gastroparesis, Intestinal pseudo-obstruction, Malabsorption, ... |
ORPHA:1876 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Respiratory distress, Jaundice, Generalized aminoaciduria, Vomiting, Pulmonary hypoplasia, Neonat... |
OMIM:231680 |
Chylomicron Retention Disease |
|
Elevated hepatic transaminase, Abdominal distention, Diarrhea, Vomiting, Steatorrhea, Fat malabso... |
ORPHA:71 |
Fallot Complex-Intellectual Disability-Growth Delay Syndrome |
|
Thin upper lip vermilion, Cyanosis, High palate, Micrognathia |
ORPHA:3304 |
Buerger Disease |
|
Acrocyanosis |
ORPHA:36258 |
Toxic Epidermal Necrolysis |
|
Acute hepatic failure, Elevated hepatic transaminase, Nausea and vomiting, Gastrointestinal hemor... |
ORPHA:537 |
Coffin-Lowry Syndrome |
|
Delayed eruption of teeth, Craniofacial hyperostosis, Death in early adulthood, Abnormal dental m... |
ORPHA:192 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Elevated hepatic transaminase, Abnormal circulating enzyme concentration or activity, Respiratory... |
ORPHA:348 |
Idiopathic Neonatal Atrial Flutter |
|
Feeding difficulties in infancy, Tachypnea, Respiratory distress |
ORPHA:45452 |
Vipoma |
|
Nausea and vomiting, Anorexia, Poor appetite, Malabsorption, Erythema, Secretory diarrhea, Dehydr... |
ORPHA:97282 |
Brachycephaly, Trichomegaly, And Developmental Delay |
|
Supernumerary tooth, Submucous cleft hard palate, Thick lower lip vermilion, Thin vermilion borde... |
OMIM:617412 |
Diarrhea 1, Secretory Chloride, Congenital |
|
Abdominal distention, Secretory diarrhea, Polyhydramnios, Dehydration |
OMIM:214700 |
Diarrhea 3, Secretory Sodium, Congenital, With Or Without Other Congenital Anomalies |
|
Intestinal malrotation, Abdominal distention, Secretory diarrhea, Cleft palate, Rectovaginal fist... |
OMIM:270420 |
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion |
|
Respiratory distress, Hypoventilation, Tented upper lip vermilion, Apnea, Feeding difficulties in... |
ORPHA:314655 |
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
|
Cyanosis, Exertional dyspnea |
OMIM:250800 |
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive |
|
Respiratory distress, Lymphocytic interstitial pneumonia |
OMIM:245590 |
Ehlers-Danlos Syndrome, Dermatosparaxis Type |
|
Inguinal hernia, Frontal open bite, Gingival overgrowth, Gingival hyperkeratosis, Atrophic scars,... |
OMIM:225410 |
Distal Limb Deficiencies-Micrognathia Syndrome |
|
Microretrognathia, Hypoplasia of the maxilla, Cleft palate, High palate, Narrow mouth, Microdonti... |
ORPHA:1307 |
Nephrotic Syndrome, Type 1 |
|
Pyloric stenosis, Neonatal respiratory distress, Gastroesophageal reflux, Abdominal distention |
OMIM:256300 |
3-Methylglutaconic Aciduria, Type Viib |
|
Polyhydramnios, Micrognathia, Trismus, Dehydration, Feeding difficulties, Tube feeding |
OMIM:616271 |
Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures |
|
Respiratory distress |
OMIM:617977 |
Gaucher Disease, Perinatal Lethal |
|
Respiratory distress, Everted upper lip vermilion, Apnea, Dysphagia, Everted lower lip vermilion,... |
OMIM:608013 |
Congenital Disorder Of Glycosylation, Type Ie |
|
Elevated hepatic transaminase, Respiratory distress, High, narrow palate, Telangiectasia, Smooth ... |
OMIM:608799 |
Lysosomal Acid Lipase Deficiency |
|
Nausea and vomiting, Fatal liver failure in infancy, Abdominal pain, Abdominal distention, Jaundi... |
ORPHA:275761 |
Progressive Supranuclear Palsy-Corticobasal Syndrome |
|
Respiratory distress, Dysphagia |
ORPHA:240103 |
Peripheral Primitive Neuroectodermal Tumor |
|
Nausea and vomiting, Anorexia, Abdominal distention, Jaundice, Episodic abdominal pain, Increased... |
ORPHA:370348 |
Pseudohermaphroditism, Female, With Skeletal Anomalies |
|
Hypoplasia of the maxilla, Short mandibular condyles |
OMIM:264270 |
Lethal Recessive Chondrodysplasia |
|
Respiratory distress, Macroglossia |
ORPHA:1423 |
Icf Syndrome |
|
Macroglossia, Umbilical hernia, Malabsorption, Protruding tongue |
ORPHA:2268 |
Ehlers-Danlos Syndrome, Classic-Like, 2 |
|
Ventral hernia, Inguinal hernia, Atypical scarring of skin, Atrophic scars, High palate, Cellulit... |
OMIM:618000 |
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Respiratory distress, Repeated pneumothoraces, Tracheomalacia, Carious teeth, Atelectasis, Respir... |
ORPHA:536467 |
Dysostosis Multiplex, Ain-Naz Type |
|
Abdominal distention |
OMIM:619345 |
Infantile-Onset X-Linked Spinal Muscular Atrophy |
|
Respiratory distress, Respiratory insufficiency, High palate, Tongue fasciculations, Poor suck |
ORPHA:1145 |
Amish Lethal Microcephaly |
|
Death in infancy, Feeding difficulties, Cleft soft palate, Micrognathia |
ORPHA:99742 |
Amme Complex |
|
Umbilical hernia, Inguinal hernia, Thin upper lip vermilion, Diastasis recti |
OMIM:300194 |
Bronchial Neuroendocrine Tumor |
|
Pneumonia, Poor appetite, Anorexia, Bowel urgency, Nonproductive cough, Dyspnea, Asthma, Wheezing... |
ORPHA:97287 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 2 |
|
Respiratory distress, Death in infancy, Feeding difficulties, High palate, Inspiratory stridor, I... |
OMIM:604377 |
Pancreatoblastoma |
|
Abdominal pain, Abdominal distention, Jaundice, Diarrhea, Vomiting |
ORPHA:677 |
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
|
Elevated hepatic transaminase, Respiratory distress, Portal hypertension, Esophageal varix, Respi... |
ORPHA:367 |
Chromosome 6Pter-P24 Deletion Syndrome |
|
Tented upper lip vermilion, Dental crowding, Cleft upper lip, High palate, Narrow mouth, Umbilica... |
OMIM:612582 |
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy |
|
Aggressive behavior, Hypoplasia of the maxilla, Feeding difficulties, Thin vermilion border, High... |
ORPHA:481152 |
Cooper-Jabs Syndrome |
|
Anteriorly placed anus, Umbilical hernia, Camptodactyly of finger, Congenital diaphragmatic hernia |
ORPHA:1488 |
Fg Syndrome Type 1 |
|
Inguinal hernia, Progressive flexion contractures, Dental crowding, Abnormal large intestine morp... |
ORPHA:93932 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Recurrent respiratory infections, Atelectasis, Diarrhea, Tachypnea, Respiratory insufficiency, Fe... |
OMIM:618278 |
Ovarian Fibrothecoma |
|
Abdominal distention, Pleural effusion, Abdominal pain |
ORPHA:314478 |
Castleman Disease |
|
Nausea and vomiting, Intestinal obstruction, Abdominal pain, Abdominal distention, Jaundice, Dysp... |
ORPHA:160 |
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia |
|
Respiratory distress, Death in infancy, Tachypnea, Respiratory insufficiency, Respiratory failure... |
OMIM:614299 |
Muscular Dystrophy, Congenital, With Or Without Seizures |
|
Respiratory distress, Abdominal pain, Feeding difficulties, Respiratory failure, Dysphagia |
OMIM:620166 |
Distal Deletion 3P |
|
Inguinal hernia, Cleft palate, Downturned corners of mouth, Thin vermilion border, High palate, L... |
ORPHA:1620 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
|
Respiratory distress, Respiratory insufficiency due to muscle weakness, Respiratory failure, Amin... |
OMIM:220110 |
Pseudo-Torch Syndrome 1 |
|
Umbilical hernia, Cleft lip, High palate, Long philtrum |
OMIM:251290 |
Primary Dystonia, Dyt4 Type |
|
Respiratory distress, Movement abnormality of the tongue, Open mouth, Dysphagia |
ORPHA:98805 |
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome |
|
Lactose intolerance, Hyperactivity, Asthma, Wide mouth, Protuberant abdomen, Long philtrum, Open ... |
ORPHA:457485 |
Nephrogenic Diabetes Insipidus |
|
Nausea and vomiting, Hypernatremic dehydration, Anorexia, Polyhydramnios, Feeding difficulties, C... |
ORPHA:223 |
Roifman-Chitayat Syndrome |
|
Umbilical hernia, Thin lower lip vermilion |
OMIM:613328 |
Scarf Syndrome |
|
Inguinal hernia, Diastasis recti, Long philtrum, Umbilical hernia, Enamel hypoplasia, Hypocalcifi... |
ORPHA:3134 |
Craniofacial-Deafness-Hand Syndrome |
|
Hypoplasia of the maxilla, Narrow mouth |
ORPHA:1529 |
Pomt1-Related Limb-Girdle Muscular Dystrophy R11 |
|
Respiratory distress, Dyspnea, Cough, Abdominal pain |
ORPHA:86812 |
Macs Syndrome |
|
Irregular dentition, Gingival overgrowth, High palate, Thick vermilion border, Recurrent aphthous... |
OMIM:613075 |
Oculofaciocardiodental Syndrome |
|
Delayed eruption of teeth, Intestinal malrotation, Abnormality of the dentition, Submucous cleft ... |
ORPHA:2712 |
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency |
|
Umbilical hernia, High palate |
OMIM:614520 |
Intellectual Developmental Disorder, Autosomal Dominant 48 |
|
Umbilical hernia, Open mouth |
OMIM:617751 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 4 |
|
Abdominal distention, Recurrent respiratory infections, Hypoperistalsis |
OMIM:619365 |
Kleefstra Syndrome Due To A Point Mutation |
|
Natal tooth, Inguinal hernia, Abnormality of the dentition, Thick lower lip vermilion, Umbilical ... |
ORPHA:261652 |
Moebius Syndrome |
|
Respiratory distress, Abnormality of the dentition, Feeding difficulties in infancy, High palate,... |
OMIM:157900 |
Trisomy 20P |
|
Inguinal hernia, Camptodactyly of finger, Spina bifida, Abnormality of the dentition, Downturned ... |
ORPHA:261318 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type |
|
Mandibular prognathia, Thin upper lip vermilion, Hyperactivity, Restlessness, Micrognathia, Hypop... |
OMIM:300534 |
Netherton Syndrome |
|
Urticaria, Dehydration, Malabsorption |
ORPHA:634 |
Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
|
Feeding difficulties in infancy, Recurrent infections due to aspiration, Diarrhea, Hypogeusia, El... |
OMIM:223900 |
Vertebral Hypersegmentation And Orofacial Anomalies |
|
Inguinal hernia, Submucous cleft hard palate, Unilateral cleft lip, Unilateral cleft palate |
OMIM:619122 |
Cohen Syndrome |
|
Micrognathia, Hypoplasia of the maxilla, Feeding difficulties in infancy, High, narrow palate, Sh... |
OMIM:216550 |
Fanconi-Bickel Syndrome |
|
Elevated circulating aspartate aminotransferase concentration, Abdominal distention, Elevated cir... |
ORPHA:2088 |
Neurogenic Arthrogryposis Multiplex Congenita |
|
Respiratory distress, Respiratory insufficiency due to muscle weakness, Feeding difficulties |
ORPHA:1143 |
Lateral Meningocele Syndrome |
|
Inguinal hernia, Dental crowding, High, narrow palate, Meningocele, High palate, Umbilical hernia... |
ORPHA:2789 |
Kniest Dysplasia |
|
Hip contracture, Umbilical hernia, Inguinal hernia, Cleft palate |
OMIM:156550 |
Tetrasomy 5P |
|
Respiratory distress, Recurrent respiratory infections, Cyanosis, High palate, Pulmonary hypoplas... |
ORPHA:3309 |
Intellectual Developmental Disorder, Autosomal Dominant 58 |
|
Inguinal hernia, Dental crowding, Protruding tongue, Submucous cleft hard palate, Wide mouth, Hig... |
OMIM:618106 |
Lateral Meningocele Syndrome |
|
Inguinal hernia, Dental crowding, Meningocele, Cleft palate, Umbilical hernia, High palate, Long ... |
OMIM:130720 |
Multiple Epiphyseal Dysplasia, Lowry Type |
|
Cleft hard palate, Knee flexion contracture |
ORPHA:166016 |
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type) |
|
Acute hepatic failure, Respiratory distress, Elevated circulating aspartate aminotransferase conc... |
OMIM:256810 |
Ciliary Dyskinesia, Primary, 2 |
|
Respiratory distress, Recurrent respiratory infections, Sinusitis, Bronchiectasis, Immotile cilia... |
OMIM:606763 |
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Hematemesis, Esophageal varix, Dehydration, Neonatal death, Oligohydramnios |
OMIM:263200 |
Juvenile Sialidosis Type 2 |
|
Umbilical hernia, Inguinal hernia, Gingival overgrowth, Protruding tongue |
ORPHA:93399 |
Generalized Pseudohypoaldosteronism Type 1 |
|
Feeding difficulties in infancy, Vomiting, Dehydration |
ORPHA:171876 |
Mohr Syndrome |
|
Median cleft lip, Accessory oral frenulum, Micrognathia, Hypoplasia of the maxilla, Cleft palate,... |
OMIM:252100 |
Ciliary Dyskinesia, Primary, 20 |
|
Recurrent respiratory infections, Productive cough, Atelectasis, Pulmonary artery stenosis, Recur... |
OMIM:615067 |
Opitz-Kaveggia Syndrome |
|
Inguinal hernia, Multiple joint contractures, Dental crowding, Anal stenosis, Intestinal malrotat... |
OMIM:305450 |
Branchiogenic-Deafness Syndrome |
|
Branchial cyst, Branchial fistula, Submucous cleft hard palate |
OMIM:609166 |
Hurler-Scheie Syndrome |
|
Inguinal hernia, Camptodactyly of finger, Contracture of the distal interphalangeal joint of the ... |
OMIM:607015 |
Cardioacrofacial Dysplasia 1 |
|
Accessory oral frenulum, Conical tooth, Hypoplasia of the maxilla, Diastema, Short philtrum |
OMIM:619142 |
Atelosteogenesis, Type Iii |
|
Hypoplasia of the maxilla, Malar flattening, Cleft palate, Micrognathia |
OMIM:108721 |
Celiac Disease, Susceptibility To, 1 |
|
Elevated hepatic transaminase, Abdominal pain, Celiac disease, Abdominal distention, Diarrhea, Vo... |
OMIM:212750 |
Malan Syndrome |
|
Mandibular prognathia, Hyperplasia of the premaxilla, Cutis marmorata, Gingival overgrowth, Evert... |
OMIM:614753 |
Ehlers-Danlos Syndrome, Classic Type, 1 |
|
Inguinal hernia, Cigarette-paper scars, Irregularly spaced teeth, Umbilical hernia, Bowel diverti... |
OMIM:130000 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Anorexia, Edema, Reye syndrome-like episodes, Diarrhea, Jaundice, Dehydration, Episodic vomiting |
ORPHA:20 |
Agenesis Of The Corpus Callosum With Peripheral Neuropathy |
|
Hypoplasia of the maxilla, High palate, Feeding difficulties |
OMIM:218000 |
Facial Dysmorphism-Shawl Scrotum-Joint Laxity Syndrome |
|
Umbilical hernia, Smooth philtrum |
ORPHA:1778 |
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom |
|
Umbilical hernia, Open mouth |
ORPHA:500159 |
Ovarian Hyperstimulation Syndrome |
|
Nausea and vomiting, Abdominal pain, Abdominal distention, Pleural effusion, Nausea, Pulmonary edema |
ORPHA:64739 |
Oromandibular Dystonia |
|
Respiratory distress, Abnormal lip morphology, Bruxism, Dysphagia |
ORPHA:93958 |
Lissencephaly Syndrome, Norman-Roberts Type |
|
Respiratory distress, Feeding difficulties, Dysphagia |
ORPHA:89844 |
Spondylospinal Thoracic Dysostosis |
|
Hypoplasia of the maxilla, Micrognathia |
OMIM:601809 |
Sialuria |
|
Thin upper lip vermilion, Macroglossia, High palate, Protuberant abdomen, Long philtrum, Attentio... |
OMIM:269921 |
Lowry-Maclean Syndrome |
|
Delayed eruption of primary teeth, Micrognathia, Hypoplasia of the maxilla, High, narrow palate, ... |
ORPHA:2409 |
Wolcott-Rallison Syndrome |
|
Acute hepatic failure, Jaundice, Dehydration, Ascites, Exocrine pancreatic insufficiency |
ORPHA:1667 |
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis |
|
Respiratory distress, Bifid uvula, Cleft palate, Feeding difficulties |
OMIM:606164 |
Halperin-Birk Syndrome |
|
Inguinal hernia, Congenital diaphragmatic hernia, Flexion contracture, High palate, Thick vermili... |
OMIM:618651 |
Eosinophilic Fasciitis |
|
Muscular edema, Acrocyanosis, Edema |
ORPHA:3165 |
Holocarboxylase Synthetase Deficiency |
|
Nausea and vomiting, Tachypnea, Respiratory distress, Anorexia |
ORPHA:79242 |
Necrotizing Enterocolitis |
|
Apnea, Abdominal distention, Diarrhea, Bloody diarrhea, Vomiting |
ORPHA:391673 |
Dent Disease 2 |
|
Umbilical hernia |
OMIM:300555 |
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome |
|
Cleft palate, Narrow palate, Anteriorly placed anus, Tooth agenesis, Narrow mouth, Umbilical hernia |
ORPHA:1555 |
Cutis Laxa, Autosomal Recessive, Type Iiia |
|
Umbilical hernia, Inguinal hernia, Narrow mouth |
OMIM:219150 |
Meier-Gorlin Syndrome 5 |
|
Micrognathia, Hypoplasia of the maxilla, Submucous cleft hard palate, Feeding difficulties, Gastr... |
OMIM:613805 |
Myotonic Dystrophy 1 |
|
Feeding difficulties in infancy, Obsessive-compulsive trait, Respiratory distress, Dysphagia |
OMIM:160900 |
Chand Syndrome |
|
Atelectasis, Cleft palate, Agenesis of permanent teeth, Abnormal oral frenulum morphology, Agenes... |
ORPHA:1401 |
Craniolenticulosutural Dysplasia |
|
Delayed eruption of teeth, Hypoplasia of the maxilla, Carious teeth, Hypoplasia of teeth, Wide mo... |
ORPHA:50814 |
Jackson-Weiss Syndrome |
|
Mandibular prognathia, Hypoplasia of the maxilla, Abnormal palate morphology |
ORPHA:1540 |
Marshall Syndrome |
|
Micrognathia, Hypoplasia of the maxilla, Abnormality of the dentition, Hypoplastic frontal sinuse... |
ORPHA:560 |
Familial Thyroid Dyshormonogenesis |
|
Macroglossia, Umbilical hernia |
ORPHA:95716 |
Goodpasture Syndrome |
|
Cyanosis, Crackles, Nodular pattern on pulmonary HRCT, Ground-glass opacification, Increased DLCO... |
OMIM:233450 |
Relapsing Polychondritis |
|
Dyspnea, Atelectasis, Erythema, Hepatitis, Anteriorly placed anus, Recurrent aphthous stomatitis,... |
ORPHA:728 |
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities |
|
Mandibular prognathia, Submucous cleft hard palate, Thick lower lip vermilion, Head-banging, Wide... |
OMIM:619103 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 6 |
|
Acute hepatic failure, Vomiting, Dehydration |
OMIM:615453 |
Mitochondrial Phosphate Carrier Deficiency |
|
Cyanosis, Respiratory insufficiency |
OMIM:610773 |
Arthrogryposis, Distal, Type 3 |
|
Camptodactyly of finger, Submucous cleft hard palate, Cleft palate, Knee flexion contracture, Dis... |
OMIM:114300 |
Hyperekplexia 1 |
|
Umbilical hernia, Inguinal hernia |
OMIM:149400 |
Odontochondrodysplasia |
|
Delayed eruption of teeth, Death in infancy, Dentinogenesis imperfecta, Respiratory distress |
ORPHA:166272 |
Congenital Tracheal Stenosis |
|
Respiratory distress, Cyanosis, Abnormal stomach morphology, Neonatal asphyxia, Dyspnea, Wheezing... |
ORPHA:141127 |
Autosomal Recessive Multiple Pterygium Syndrome |
|
Inguinal hernia, Camptodactyly of finger, Aplasia/Hypoplasia of the abdominal wall musculature, A... |
ORPHA:2990 |
Ethylmalonic Encephalopathy |
|
Diarrhea, Acrocyanosis, Petechiae |
ORPHA:51188 |
Combined Oxidative Phosphorylation Deficiency 53 |
|
Abdominal distention, Death in infancy, Death in childhood |
OMIM:619423 |
Chromosome 18Q Deletion Syndrome |
|
Thin upper lip vermilion, Inguinal hernia, Cleft upper lip, Cleft palate, Downturned corners of m... |
OMIM:601808 |
Keipert Syndrome |
|
Hypoplasia of the maxilla, Tented upper lip vermilion, Exaggerated cupid's bow |
ORPHA:2662 |
Congenital Laryngeal Web |
|
Respiratory distress, Stridor |
ORPHA:2374 |
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Vomiting, Dehydration |
OMIM:251000 |
Gonadoblastoma |
|
Abdominal distention, Abdominal pain |
ORPHA:206484 |
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3 |
|
Mandibular prognathia, High, narrow palate, Deep philtrum, Downturned corners of mouth, Gastroeso... |
OMIM:619950 |
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy |
|
Respiratory distress, Restlessness, Feeding difficulties, Hypodontia, Gastrostomy tube feeding in... |
ORPHA:544503 |
Andersen Cardiodysrhythmic Periodic Paralysis |
|
Thin upper lip vermilion, Dental crowding, Short mandibular rami, Persistence of primary teeth, H... |
OMIM:170390 |
Schilbach-Rott Syndrome |
|
Micrognathia, Submucous cleft hard palate, Attention deficit hyperactivity disorder, Narrow mouth... |
OMIM:164220 |
Odontochondrodysplasia 1 |
|
Delayed eruption of teeth, Respiratory distress, Recurrent respiratory infections, Death in infan... |
OMIM:184260 |
Osteogenesis Imperfecta, Type Xviii |
|
Umbilical hernia, Abnormality of the dentition |
OMIM:617952 |
Diaphanospondylodysostosis |
|
Respiratory distress, Respiratory insufficiency, Cleft palate, Pulmonary hypoplasia, Protuberant ... |
OMIM:608022 |
Paternal Uniparental Disomy Of Chromosome 6 |
|
Micrognathia, Gingival overgrowth, Dehydration, Macroglossia, High palate, Retrognathia, Oligohyd... |
ORPHA:96191 |
Diffuse Cutaneous Systemic Sclerosis |
|
Nausea and vomiting, Telangiectasia of the skin, Malabsorption, Carious teeth, Dyspnea, Xerostomi... |
ORPHA:220393 |
Crouzon Syndrome-Acanthosis Nigricans Syndrome |
|
Hypoplasia of the maxilla, Malar flattening, Abnormal palate morphology |
ORPHA:93262 |
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Thin upper lip vermilion, Abdominal distention, Pulmonary lymphangiectasia, Alveolar ridge overgr... |
ORPHA:1655 |
Melanocytic Nevus Syndrome, Congenital |
|
Prominence of the premaxilla, Deep philtrum, Everted lower lip vermilion, Long philtrum, Open mouth |
OMIM:137550 |
Interstitial Lung And Liver Disease |
|
Elevated circulating aspartate aminotransferase concentration, Dyspnea, Elevated circulating alan... |
OMIM:615486 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Elevated hepatic transaminase, Cyanosis, Sudden episodic apnea, Respiratory insufficiency, Hepati... |
ORPHA:159 |
Myasthenic Syndrome, Congenital, 21, Presynaptic |
|
Cyanosis, Apnea, Meconium ileus, Respiratory insufficiency, Feeding difficulties |
OMIM:617239 |
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones |
|
Hypoplasia of the maxilla, Progeroid facial appearance |
OMIM:608154 |
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive |
|
Dehydration |
OMIM:620125 |
Temtamy Preaxial Brachydactyly Syndrome |
|
Abnormal spaced incisors, Micrognathia, Hypoplasia of the maxilla, Abnormality of the dentition, ... |
ORPHA:363417 |
Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Abdominal pain, Intestinal perforation, Diarrhea, Peritonitis, Rectal prolapse, Colonic stenosis,... |
ORPHA:90038 |
Granulomatous Disease, Chronic, X-Linked |
|
Atelectasis, Recurrent pneumonia, Air bronchogram, Decreased activity of NADPH oxidase, Rectal ab... |
OMIM:306400 |
Arterial Tortuosity Syndrome |
|
Inguinal hernia, Congenital diaphragmatic hernia, Hiatus hernia, Flexion contracture, High palate... |
OMIM:208050 |
Whim Syndrome |
|
Abnormal small intestine morphology, Sinusitis, Severe periodontitis, Pneumonia, Respiratory trac... |
ORPHA:51636 |
Deafness-Epiphyseal Dysplasia-Short Stature Syndrome |
|
Umbilical hernia, Inguinal hernia |
ORPHA:3218 |
Colonic Atresia |
|
Abdominal distention, Peptic ulcer, Colonic atresia, Duodenal stenosis |
ORPHA:1198 |
Immunodeficiency 49 |
|
Umbilical hernia, Short philtrum, Natal tooth |
OMIM:617237 |
Primary Biliary Cholangitis |
|
Portal hypertension, Celiac disease, Abdominal distention, Jaundice, Hepatitis, Gastrointestinal ... |
ORPHA:186 |
Prader-Willi Syndrome Due To Translocation |
|
Respiratory distress, Feeding difficulties in infancy, Nasogastric tube feeding in infancy, Downt... |
ORPHA:177907 |
Cowden Syndrome 5 |
|
Colonic diverticula, Micrognathia, Hypoplasia of the maxilla, Furrowed tongue, Hamartomatous poly... |
OMIM:615108 |
Oligomeganephronia |
|
Branchial cyst, Polydipsia, Dehydration, Micrognathia |
ORPHA:2260 |
Mucopolysaccharidosis, Type Ii |
|
Delayed eruption of teeth, Inguinal hernia, Intestinal pseudo-obstruction, Flexion contracture, T... |
OMIM:309900 |
Intellectual Developmental Disorder, Autosomal Recessive 68 |
|
Hypoplasia of the maxilla |
OMIM:618302 |
Schneckenbecken Dysplasia |
|
Umbilical hernia, Cleft palate |
OMIM:269250 |
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1 |
|
Wide mouth, Umbilical hernia, Median pseudocleft lip |
OMIM:619758 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Elevated hepatic transaminase, Respiratory distress, Episodic tachypnea, Pneumonia, Jaundice, Tac... |
ORPHA:26793 |
Classical-Like Ehlers-Danlos Syndrome Type 2 |
|
Ventral hernia, Inguinal hernia, Widened atrophic scar, Long uvula, Tooth malposition, Narrow pal... |
ORPHA:536532 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Delayed eruption of teeth, Narrow mouth, Rectal prolapse, Spina bifida occulta, Gingival overgrow... |
OMIM:235510 |
Myopathy And Diabetes Mellitus |
|
Respiratory distress |
ORPHA:2596 |
Complete Atrioventricular Septal Defect |
|
Cyanosis, Intercostal retractions, Crackles, Wheezing, Tachypnea, Recurrent pneumonia, Feeding di... |
ORPHA:1329 |
Cerebrofacioarticular Syndrome |
|
Irregular dentition, Anal stenosis, Micrognathia, Hypoplasia of the maxilla, Feeding difficulties... |
ORPHA:314679 |
Brachymorphism-Onychodysplasia-Dysphalangism Syndrome |
|
Wide mouth, Umbilical hernia, Inguinal hernia, Long philtrum |
ORPHA:1292 |
Tetanus |
|
Respiratory distress, Bowel incontinence, Abdominal pain, Tachypnea, Dysphagia |
ORPHA:3299 |
Thanatophoric Dysplasia, Type I |
|
Neonatal death, Neonatal respiratory distress, Pulmonary hypoplasia, Protuberant abdomen |
OMIM:187600 |
Corticosterone Methyloxidase Type Ii Deficiency |
|
Dehydration |
OMIM:610600 |
Osteogenesis Imperfecta, Type Xiii |
|
Umbilical hernia, Thin vermilion border, Dentinogenesis imperfecta, Long philtrum |
OMIM:614856 |
Ethylene Glycol Poisoning |
|
Cyanosis, Gastritis, Abnormal pattern of respiration, Tachypnea, Episodic respiratory distress, A... |
ORPHA:31826 |
8Q22.1 Microdeletion Syndrome |
|
Hypoplasia of the maxilla, Long philtrum, Submucous cleft hard palate, Abnormality of the dentition |
ORPHA:178303 |
Gorlin-Chaudhry-Moss Syndrome |
|
Umbilical hernia, Oligodontia, Abnormality of the dentition |
ORPHA:2095 |
Craniofaciofrontodigital Syndrome |
|
Gastrointestinal hemorrhage, Respiratory distress, Prominent superficial veins, Pyloric stenosis,... |
ORPHA:363705 |
Carpenter Syndrome 1 |
|
Omphalocele, Persistence of primary teeth, Spina bifida occulta, Agenesis of permanent teeth, Hig... |
OMIM:201000 |
Cocaine Intoxication |
|
Respiratory distress, Pulmonary edema, Abdominal pain, Intestinal perforation, Diffuse alveolar h... |
ORPHA:90068 |
Tetrasomy 12P |
|
Delayed eruption of teeth, Thin upper lip vermilion, Abnormal soft palate morphology, Downturned ... |
ORPHA:884 |
Oculodentodigital Dysplasia, Autosomal Recessive |
|
Delayed eruption of teeth, Dental crowding, Micrognathia, Hypoplasia of the maxilla, Dental maloc... |
OMIM:257850 |
Amoebiasis Due To Entamoeba Histolytica |
|
Elevated hepatic transaminase, Intestinal obstruction, Lung abscess, Abdominal pain, Dyspnea, Gas... |
ORPHA:67 |
Multiple Pterygium Syndrome, Escobar Variant |
|
Inguinal hernia, Multiple joint contractures, Congenital diaphragmatic hernia, Narrow mouth, Flex... |
OMIM:265000 |
Crouzon Syndrome |
|
Hypoplasia of the maxilla, Narrow palate |
ORPHA:207 |
1Q41Q42 Microdeletion Syndrome |
|
Cleft palate, Submucous cleft hard palate, Thick vermilion border, Congenital diaphragmatic hernia |
ORPHA:250999 |
22Q11.2 Deletion Syndrome |
|
Feeding difficulties in infancy, Abnormal lung lobation, Short philtrum, Gastroesophageal reflux,... |
ORPHA:567 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3 |
|
Neonatal death, Abdominal distention, Microcolon |
OMIM:619362 |
Branchioskeletogenital Syndrome |
|
Unilateral cleft palate, Abnormality of the dentition, Carious teeth, Submucous cleft hard palate... |
ORPHA:1299 |
Donohue Syndrome |
|
Wide mouth, Abdominal distention, Thick lower lip vermilion, Gingival overgrowth |
OMIM:246200 |
Congenital Sialidosis Type 2 |
|
Umbilical hernia, Inguinal hernia, Gingival overgrowth, Protruding tongue |
ORPHA:93400 |
Loeys-Dietz Syndrome 5 |
|
Reduced subcutaneous adipose tissue, Inguinal hernia, Tented upper lip vermilion, Cleft soft pala... |
OMIM:615582 |
Cowden Syndrome 6 |
|
Colonic diverticula, Micrognathia, Hypoplasia of the maxilla, Furrowed tongue, Hamartomatous poly... |
OMIM:615109 |
Neurodevelopmental Disorder With Hypotonia, Craniofacial Abnormalities, And Seizures |
|
Exaggerated cupid's bow, Wide mouth, Macroglossia, High palate, Umbilical hernia |
OMIM:614501 |
Cerebrocostomandibular Syndrome |
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Anal stenosis, Cleft soft palate, Polyhydramnios, Micrognathia, Carious teeth, Cleft lip, Pierre-... |
OMIM:117650 |
Chromosome 6Q24-Q25 Deletion Syndrome |
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Respiratory distress, Thin upper lip vermilion, High, narrow palate, Submucous cleft hard palate,... |
OMIM:612863 |
Dravet Syndrome |
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Obsessive-compulsive trait, Cyanotic episode, Impulsivity |
ORPHA:33069 |
Stt3B-Cdg |
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Respiratory distress, Feeding difficulties |
ORPHA:370924 |
Mucopolysaccharidosis, Type Iiia |
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Umbilical hernia, Inguinal hernia |
OMIM:252900 |
7Q31 Microdeletion Syndrome |
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Hyperactivity, Hypoplasia of the maxilla, Nasogastric tube feeding in infancy, Dysphagia, Wide mo... |
ORPHA:251061 |
Netherton Syndrome |
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Hypernatremic dehydration, Villous atrophy, Angioedema, Urticaria, Recurrent infection of the gas... |
OMIM:256500 |
Brain-Lung-Thyroid Syndrome |
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Respiratory distress, Recurrent respiratory infections, Hyperactivity, Neonatal respiratory distr... |
ORPHA:209905 |
Aicardi-Goutieres Syndrome 1 |
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Elevated hepatic transaminase, Feeding difficulties in infancy, Erythema, Multiple gastric polyps... |
OMIM:225750 |
Thyroid Ectopia |
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Macroglossia, Jaundice, Constipation, Abdominal distention |
ORPHA:95712 |
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type |
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Respiratory distress, Stillbirth, Pulmonary hypoplasia, Protuberant abdomen |
OMIM:151210 |
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects |
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Thin upper lip vermilion, Cutis marmorata, Intestinal malrotation, Velopharyngeal insufficiency, ... |
OMIM:614701 |
Neurodevelopmental, Jaw, Eye, And Digital Syndrome |
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Umbilical hernia, Inguinal hernia, Joint contracture of the 4th finger, Joint contracture of the ... |
OMIM:618914 |
Microsporidiosis |
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Sinusitis, Anorexia, Abdominal pain, Peritonitis, Chronic diarrhea, Dehydration, Vomiting, Interm... |
ORPHA:2552 |
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies |
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Umbilical hernia |
ORPHA:95715 |
Multicentric Carpotarsal Osteolysis Syndrome |
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Hypoplasia of the maxilla, Micrognathia |
OMIM:166300 |
Focal Dermal Hypoplasia |
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Omphalocele, Inguinal hernia, Abnormal dental morphology, Abnormal dental enamel morphology, Spin... |
ORPHA:2092 |
Aarskog-Scott Syndrome |
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Cleft upper lip, Hypoplasia of the maxilla, Cleft palate, Curved linear dimple below the lower li... |
OMIM:305400 |
Dysostosis, Stanescu Type |
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Abnormal dental enamel morphology, Abnormality of the dentition, Hypoplasia of the maxilla, Cario... |
ORPHA:1798 |
Methylmalonic Aciduria, Cblb Type |
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Feeding difficulties in infancy, Vomiting, Dehydration |
OMIM:251110 |
Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome |
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Cleft soft palate, Micrognathia, Feeding difficulties, Hypoxemia, Submucous cleft soft palate |
ORPHA:2282 |
Autosomal Recessive Robinow Syndrome |
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Inguinal hernia, Tented upper lip vermilion, Exaggerated cupid's bow, Camptodactyly of finger, Ab... |
ORPHA:1507 |
Spondyloepimetaphyseal Dysplasia, Strudwick Type |
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Protuberant abdomen, Cleft palate |
OMIM:184250 |
Craniosynostosis 2 |
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Supernumerary tooth, Cleft soft palate |
OMIM:604757 |
Adams-Oliver Syndrome 5 |
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Umbilical hernia, Inguinal hernia, Esophageal varix |
OMIM:616028 |
Ptosis-Upper Ocular Movement Limitation-Absence Of Lacrimal Punctum Syndrome |
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Microretrognathia, Hypoplasia of the maxilla, Thick vermilion border, Long philtrum |
ORPHA:228396 |
Kasabach-Merritt Syndrome |
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Respiratory distress, Abdominal pain, Abdominal distention, Hypopnea, Petechiae, Purpura |
ORPHA:2330 |
Short Stature, Oligodontia, Dysmorphic Facies, And Motor Delay |
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Umbilical hernia, Bilateral camptodactyly, Smooth philtrum, Oligodontia |
OMIM:619234 |
Axenfeld-Rieger Syndrome |
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Anal stenosis, Hypoplasia of the maxilla, Everted lower lip vermilion, Hypodontia, Microdontia |
ORPHA:782 |
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome |
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Thick lower lip vermilion, Acrocyanosis, Long philtrum |
OMIM:614407 |
Opitz Gbbb Syndrome |
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Omphalocele, Natal tooth, Inguinal hernia, Congenital diaphragmatic hernia, Cleft lip, Tracheoeso... |
ORPHA:2745 |
Holoprosencephaly-Postaxial Polydactyly Syndrome |
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Encephalocele, Omphalocele, Intestinal malrotation, Orofacial cleft, Cleft palate, Narrow mouth, ... |
ORPHA:2166 |
Developmental Delay With Or Without Dysmorphic Facies And Autism |
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Omphalocele, Thin upper lip vermilion, Inguinal hernia, Congenital diaphragmatic hernia, Cleft li... |
OMIM:618454 |
Tatton-Brown-Rahman Syndrome |
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Umbilical hernia, Deep philtrum, Widely-spaced maxillary central incisors |
ORPHA:404443 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
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Elevated hepatic transaminase, Hypoventilation, Cyanosis, Central hypoventilation, Aggressive beh... |
ORPHA:293987 |
Pycnodysostosis |
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Obtuse angle of mandible, Delayed eruption of primary teeth, Persistence of primary teeth, Hypopl... |
ORPHA:763 |
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type |
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Cleft soft palate, Short philtrum, Retrognathia, Smooth philtrum, Oligohydramnios |
ORPHA:293725 |
Cat Eye Syndrome |
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Anal stenosis, Intestinal malrotation, Rectal fistula, Rectal atresia, Cleft palate, Umbilical he... |
OMIM:115470 |
3Mc Syndrome |
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Diastasis recti, Orofacial cleft, Downturned corners of mouth, Umbilical hernia, Spina bifida occ... |
ORPHA:293843 |
Wilson Disease |
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Acute hepatic failure, Elevated circulating aspartate aminotransferase concentration, Abdominal d... |
OMIM:277900 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
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Nausea and vomiting, Respiratory distress |
ORPHA:289916 |
W Syndrome |
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Submucous cleft hard palate, Agenesis of maxillary central incisor, Camptodactyly, Broad uvula, U... |
ORPHA:2804 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
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Cyanosis, Pericardial effusion, Feeding difficulties, Macroglossia, Anasarca, Peripheral edema, P... |
OMIM:261740 |
Chromosome 17P13.1 Deletion Syndrome |
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Spina bifida, High, narrow palate, Elbow flexion contracture, Knee flexion contracture, High pala... |
OMIM:613776 |
Cohen Syndrome |
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Macrodontia, Aplasia/Hypoplasia of the tongue, Micrognathia, Hypoplasia of the maxilla, Feeding d... |
ORPHA:193 |
Schimke Immuno-Osseous Dysplasia |
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Abdominal distention, Abnormal primary molar morphology, Abnormal intestine morphology, Hypodonti... |
ORPHA:1830 |
Gapo Syndrome |
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Delayed eruption of teeth, Everted lower lip vermilion, Long philtrum, Umbilical hernia, Abnormal... |
ORPHA:2067 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation |
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Respiratory distress, Thin upper lip vermilion, Tented upper lip vermilion, Feeding difficulties ... |
ORPHA:438216 |
Pitt-Hopkins Syndrome |
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Aganglionic megacolon, Hiatus hernia, Aggressive behavior, Feeding difficulties, Wide mouth, Self... |
ORPHA:2896 |
Buratti-Harel Syndrome |
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Velopharyngeal insufficiency, Submucous cleft hard palate, High palate, Bifid uvula |
OMIM:619314 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome |
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Nausea and vomiting, Death in infancy, Intestinal malrotation, Hypoperistalsis, Abdominal distent... |
ORPHA:2241 |
2Q37 Microdeletion Syndrome |
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Congenital diaphragmatic hernia, Pyloric stenosis, Downturned corners of mouth, Thin vermilion bo... |
ORPHA:1001 |
Scarf Syndrome |
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Inguinal hernia, Diastasis recti, Long philtrum, Umbilical hernia, Enamel hypoplasia |
OMIM:312830 |
Treacher-Collins Syndrome |
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Branchial fistula, Abnormal dental morphology, Abnormal dental enamel morphology, Micrognathia, H... |
ORPHA:861 |
Van Maldergem Syndrome 1 |
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Irregular dentition, Tented upper lip vermilion, Micrognathia, Hypoplasia of the maxilla, Dental ... |
OMIM:601390 |
Criss-Cross Heart |
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Cyanosis, Respiratory insufficiency, Feeding difficulties |
ORPHA:1461 |
Developmental And Epileptic Encephalopathy 95 |
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Inguinal hernia, Multiple joint contractures, Deep philtrum, Gingival overgrowth, Macroglossia, W... |
OMIM:618143 |
Apert Syndrome |
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Mandibular prognathia, Delayed eruption of teeth, Hypoplasia of the maxilla, Feeding difficulties... |
ORPHA:87 |
Robin Sequence With Distinctive Facial Appearance And Brachydactyly |
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Exaggerated median tongue furrow, Tented upper lip vermilion, Exaggerated cupid's bow, Micrognath... |
OMIM:608670 |
Tolchin-Le Caignec Syndrome |
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Diastasis recti, Submucous cleft hard palate, High palate, Narrow mouth, Umbilical hernia |
OMIM:618971 |
Pde4D Haploinsufficiency Syndrome |
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Mandibular prognathia, Thin upper lip vermilion, Abnormal dental enamel morphology, Micrognathia,... |
ORPHA:439822 |
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum |
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Elevated hepatic transaminase, Respiratory distress, Respiratory failure requiring assisted venti... |
ORPHA:95455 |
Carpenter Syndrome |
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Umbilical hernia |
ORPHA:65759 |
9P13 Microdeletion Syndrome |
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Umbilical hernia, High palate |
ORPHA:324313 |
Bacterial Toxic-Shock Syndrome |
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Respiratory distress, Sinusitis, Pneumonia, Abdominal pain, Respiratory tract infection, Diarrhea... |
ORPHA:36234 |
Brittle Cornea Syndrome 2 |
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Umbilical hernia, Inguinal hernia |
OMIM:614170 |
Microcephaly-Capillary Malformation Syndrome |
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Hypoplasia of the maxilla, Cleft palate |
OMIM:614261 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
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Jaundice, Hydrops fetalis, Dehydration, Feeding difficulties, Stomatitis, Glossitis, Smooth philtrum |
ORPHA:79282 |
Hemorrhagic Fever-Renal Syndrome |
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Elevated hepatic transaminase, Respiratory distress, Pneumonia, Epistaxis, Abdominal pain, Hemate... |
ORPHA:340 |
Oculodentodigital Dysplasia |
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Median cleft lip, Camptodactyly of finger, Abnormal dental enamel morphology, Premature loss of p... |
ORPHA:2710 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
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Delayed eruption of teeth, Generalized aminoaciduria, Elevated circulating alkaline phosphatase c... |
OMIM:264700 |
Myhre Syndrome |
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Mandibular prognathia, Craniofacial hyperostosis, Hypoplasia of the maxilla, Submucous cleft hard... |
ORPHA:2588 |
Absence Of The Pulmonary Artery |
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Orthopnea, Abnormal pulmonary thoracic imaging finding, Cyanosis, Recurrent respiratory infection... |
ORPHA:980 |
Meier-Gorlin Syndrome 4 |
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Micrognathia, Hypoplasia of the maxilla, Thick lower lip vermilion, Feeding difficulties, Narrow ... |
OMIM:613804 |
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome |
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Delayed eruption of teeth, Abnormal dental enamel morphology, Conical tooth, Non-midline cleft li... |
ORPHA:1071 |
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans |
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Respiratory distress, Central apnea, Bowel incontinence, Respiratory failure, Gastroesophageal re... |
OMIM:616482 |
Hurler Syndrome |
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Inguinal hernia, Flexion contracture, Gingival overgrowth, Macroglossia, Thick vermilion border, ... |
OMIM:607014 |
Pearson Syndrome |
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Median cleft lip and palate, Hepatic failure, Chronic diarrhea, Hydrops fetalis, Steatorrhea, Deh... |
ORPHA:699 |
Kallmann Syndrome-Heart Disease Syndrome |
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Midgut malrotation, Cyanosis, Short lingual frenulum, Cleft palate |
ORPHA:2326 |
Dislocation Of The Hip-Dysmorphism Syndrome |
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Malar flattening, Prominence of the premaxilla, Abnormal palate morphology, Narrow mouth |
ORPHA:2412 |
Barber-Say Syndrome |
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Mandibular prognathia, Delayed eruption of teeth, Micrognathia, Hypoplasia of the maxilla, Veloph... |
OMIM:209885 |
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
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Respiratory distress, Respiratory failure, Pulmonary hypoplasia, Long philtrum |
OMIM:617895 |
Hyperoxaluria, Primary, Type I |
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Acrocyanosis, Cutis marmorata, Dehydration |
OMIM:259900 |
Isolated Right Ventricular Hypoplasia |
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Hypoxemia, Cyanosis, Pedal edema |
ORPHA:439 |
Nasolacrimal Duct Cyst |
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Intercostal retractions, Episodic respiratory distress, Stridor, Paroxysmal dyspnea, Abnormal bre... |
ORPHA:141083 |
Pachyonychia Congenita |
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Respiratory distress, Natal tooth, Angular cheilitis, Feeding difficulties, Advanced eruption of ... |
ORPHA:2309 |
Orofaciodigital Syndrome Type 10 |
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Cleft soft palate, Accessory oral frenulum, Micrognathia, Long philtrum, Retrognathia |
ORPHA:2756 |
Congenital Tricuspid Valve Dysplasia |
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Respiratory failure requiring assisted ventilation, Cyanosis, Tachypnea, Anomalous pulmonary veno... |
ORPHA:555874 |
Smith-Lemli-Opitz Syndrome |
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Dental crowding, Gastrointestinal dysmotility, Abnormal lung lobation, Vomiting, Gastroesophageal... |
OMIM:270400 |
Donnai-Barrow Syndrome |
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Omphalocele, Umbilical hernia, Intestinal malrotation, Congenital diaphragmatic hernia |
OMIM:222448 |
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism |
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Umbilical hernia, High palate |
OMIM:104350 |
Native American Myopathy |
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Cleft palate, Downturned corners of mouth, Congenital contracture, High palate, Camptodactyly, Su... |
ORPHA:168572 |
Catel-Manzke Syndrome |
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Inguinal hernia, Cleft upper lip, Narrow mouth, Pierre-Robin sequence, Cleft palate, Glossoptosis... |
OMIM:616145 |
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome |
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Cyanosis, Aggressive behavior, Dysphagia |
ORPHA:488627 |
Endove Syndrome, Limb-Brain Type |
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Umbilical hernia |
OMIM:619218 |
Renal Hypoplasia |
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Polydipsia, Dehydration |
ORPHA:93101 |
Methylmalonic Aciduria, Cbla Type |
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Feeding difficulties in infancy, Vomiting, Dehydration |
OMIM:251100 |
Congenitally Uncorrected Transposition Of The Great Arteries |
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Hypoxemia, Cyanosis, Tachypnea, Anomalous pulmonary venous return |
ORPHA:860 |
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome |
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Inguinal hernia, Camptodactyly of finger, High, narrow palate, Long philtrum, Umbilical hernia |
ORPHA:1101 |
Genetic Transient Congenital Hypothyroidism |
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Macroglossia, Umbilical hernia |
ORPHA:226316 |
Inhalational Anthrax |
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Respiratory distress, Dyspnea, Vomiting |
ORPHA:247257 |
Severe Generalized Junctional Epidermolysis Bullosa |
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Erosion of oral mucosa, Abnormal oral mucosa morphology, Edema, Esophageal stricture, Malnutritio... |
ORPHA:79404 |
Acrofacial Dysostosis, Cincinnati Type |
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Micrognathia, Hypoplasia of the maxilla, Cleft palate, Retrognathia, Aplastic zygomatic arch |
OMIM:616462 |
Telangiectasia, Hereditary Hemorrhagic, Type 1 |
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Conjunctival telangiectasia, Tongue telangiectasia, Gastrointestinal arteriovenous malformation, ... |
OMIM:187300 |
Osteopathia Striata-Cranial Sclerosis Syndrome |
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Delayed eruption of teeth, Micrognathia, High, narrow palate, Submucous cleft hard palate, Cleft ... |
ORPHA:2780 |
Rodrigues Blindness |
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Ectodermal dysplasia, Tooth malposition, Nasal flaring |
OMIM:268320 |
Dopamine Beta-Hydroxylase Deficiency |
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Diarrhea, Vomiting, Dehydration |
ORPHA:230 |
Mgat2-Cdg |
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Respiratory distress, Dental crowding, Reduced level of N-acetylglucosaminyltransferase II, Gastr... |
ORPHA:79329 |
Acrodysostosis |
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Mandibular prognathia, Delayed eruption of teeth, Hypoplasia of the maxilla, Open bite, Open mouth |
ORPHA:950 |
Radio-Renal Syndrome |
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Respiratory distress, High, narrow palate, Dyspnea, Downturned corners of mouth, Respiratory fail... |
ORPHA:3015 |
Triosephosphate Isomerase Deficiency |
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Respiratory distress, Death in infancy, Respiratory insufficiency due to muscle weakness, Jaundic... |
OMIM:615512 |
Atrial Septal Defect, Ostium Primum Type |
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Recurrent respiratory infections, Cyanosis, Dyspnea, Tachypnea, Abnormal respiratory system physi... |
ORPHA:99106 |
Kagami-Ogata Syndrome |
|
Polyhydramnios, Micrognathia, Hypoplasia of the maxilla, Long philtrum, Retrognathia |
OMIM:608149 |
Pyruvate Carboxylase Deficiency |
|
Anorexia, Dehydration, Vomiting, Compulsive behaviors, Abnormal temper tantrums, Recurrent hand f... |
ORPHA:3008 |
Pfeiffer Syndrome |
|
Mandibular prognathia, Hypoplasia of the maxilla, High palate, Dental crowding |
OMIM:101600 |
Geroderma Osteodysplasticum |
|
Mandibular prognathia, Progeroid facial appearance, Hypoplasia of the maxilla, Neonatal wrinkled ... |
OMIM:231070 |
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome |
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Delayed eruption of teeth, Inguinal hernia, Cleft lip, Thick lower lip vermilion, Cleft palate, W... |
OMIM:280000 |
Rhizomelic Chondrodysplasia Punctata, Type 2 |
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Submucous cleft hard palate, Inguinal hernia, Flexion contracture, High palate |
OMIM:222765 |
Cowden Syndrome 1 |
|
Colonic diverticula, Micrognathia, Hypoplasia of the maxilla, Furrowed tongue, Hamartomatous poly... |
OMIM:158350 |
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Protruding tongue, Diastema, Thick lower lip vermilion, Widely-spaced maxillary central incisors,... |
OMIM:301040 |
Endove Syndrome, Limb-Only Type |
|
Umbilical hernia |
OMIM:619217 |
Autosomal Dominant Robinow Syndrome |
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Inguinal hernia, Median cleft lip and palate, Femoral hernia, Camptodactyly of finger, Open bite,... |
ORPHA:3107 |
Distal Renal Tubular Acidosis |
|
Poor appetite, Diarrhea, Dehydration, Constipation, Vomiting, Polydipsia |
ORPHA:18 |
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1 |
|
Polyhydramnios, Micrognathia, Hypoplasia of the maxilla, Cleft upper lip, Gingival overgrowth, Cl... |
OMIM:213980 |
Cantú Syndrome |
|
Wide mouth, Umbilical hernia, Thick vermilion border, Long philtrum |
ORPHA:1517 |
Infantile Nephropathic Cystinosis |
|
Constipation, Polydipsia, Vomiting, Dehydration |
ORPHA:411629 |
Andersen-Tawil Syndrome |
|
Thin upper lip vermilion, Abnormality of dental color, Dental crowding, Persistence of primary te... |
ORPHA:37553 |
Adnp Syndrome |
|
Respiratory distress, Thin upper lip vermilion, Oral-pharyngeal dysphagia, Aggressive behavior, T... |
ORPHA:404448 |
Polyembryoma |
|
Abdominal distention, Abdominal pain |
ORPHA:180229 |
Shprintzen-Goldberg Craniosynostosis Syndrome |
|
Inguinal hernia, Dental malocclusion, Narrow palate, High palate, Minimal subcutaneous fat, Campt... |
OMIM:182212 |
Cystic Fibrosis |
|
Meconium ileus, Diarrhea, Ileus, Rectal prolapse, Dehydration, Steatorrhea, Chronic sinusitis, Ex... |
OMIM:219700 |
Colchicine Poisoning |
|
Diarrhea, Vomiting, Nausea, Dehydration |
ORPHA:31824 |
Episodic Ataxia Type 1 |
|
Respiratory distress, Nausea |
ORPHA:37612 |
Mucopolysaccharidosis, Type Vii |
|
Recurrent upper respiratory tract infections, Gingival overgrowth, Macroglossia, Widely spaced te... |
OMIM:253220 |
Cree Mental Retardation Syndrome |
|
Cleft soft palate, Micrognathia |
OMIM:606851 |
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2 |
|
Inguinal hernia, Redundant umbilical skin, Cleft soft palate, Atrophic scars, Umbilical hernia |
OMIM:614557 |
Orofaciodigital Syndrome Type 2 |
|
Natal tooth, Median cleft lip, Hamartoma of tongue, Micrognathia, Submucous cleft soft palate, Un... |
ORPHA:2751 |
Tarp Syndrome |
|
Cyanosis, Apnea, Pierre-Robin sequence, Alveolar ridge overgrowth, Cleft palate, Glossoptosis, Pu... |
ORPHA:2886 |
Crouzon Syndrome |
|
Mandibular prognathia, Hypoplasia of the maxilla, High palate, Dental crowding |
OMIM:123500 |
Hypohidrotic Ectodermal Dysplasia |
|
Sinusitis, Abnormal dental morphology, Abnormality of the dentition, Hypoplasia of the maxilla, X... |
ORPHA:238468 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Elevated hepatic transaminase, Respiratory distress, Recurrent respiratory infections, Gastritis,... |
ORPHA:37042 |
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted |
|
Smooth philtrum, Respiratory distress, Recurrent respiratory infections, Abnormality of the denti... |
OMIM:300968 |
Proximal Renal Tubular Acidosis |
|
Malabsorption, Diarrhea, Enamel hypomineralization, Dehydration, Vomiting, Polydipsia |
ORPHA:47159 |
Neuroleptic Malignant Syndrome |
|
Dehydration, Vomiting, Agitation, Dysphagia, Nausea, Nasogastric tube feeding |
ORPHA:94093 |
De Barsy Syndrome |
|
Delayed eruption of teeth, Inguinal hernia, Lipodystrophy, Small, conical teeth, High palate, Nar... |
ORPHA:2962 |
Martsolf Syndrome 1 |
|
Micrognathia, Hypoplasia of the maxilla, Feeding difficulties in infancy, High palate, Short phil... |
OMIM:212720 |
Zimmermann-Laband Syndrome 1 |
|
Delayed eruption of teeth, Gingival overgrowth, Gingival fibromatosis, Downturned corners of mout... |
OMIM:135500 |
Ear-Patella-Short Stature Syndrome |
|
Micrognathia, Hypoplasia of the maxilla, High, narrow palate, Submucous cleft hard palate, Cleft ... |
ORPHA:2554 |
Robinow Syndrome, Autosomal Dominant 1 |
|
Delayed eruption of teeth, Thin upper lip vermilion, Inguinal hernia, Short lingual frenulum, Den... |
OMIM:180700 |
Leukocyte Adhesion Deficiency Type Ii |
|
Severe periodontitis, Scarring, Protruding tongue, Deep philtrum, Gingival overgrowth, Narrow pal... |
ORPHA:99843 |
Vitamin D-Dependent Rickets, Type 2A |
|
Delayed eruption of teeth, Carious teeth, Elevated circulating alkaline phosphatase concentration... |
OMIM:277440 |
Ramos-Arroyo Syndrome |
|
Respiratory distress, Aganglionic megacolon, Carious teeth, Feeding difficulties in infancy, Xero... |
ORPHA:1051 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2 |
|
Respiratory failure requiring assisted ventilation, Ileal atresia, Abdominal distention, Elevated... |
OMIM:619351 |
Mandibulofacial Dysostosis, Guion-Almeida Type |
|
Respiratory distress, Feeding difficulties in infancy, Esophageal atresia, Deep philtrum, Cleft p... |
OMIM:610536 |
Hereditary Spherocytosis |
|
Abdominal distention, Jaundice, Abdominal pain |
ORPHA:822 |
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency |
|
Inguinal hernia, Widened atrophic scar, High, narrow palate, Elbow flexion contracture, Atypical ... |
ORPHA:1900 |
Epidermolysis Bullosa Simplex With Pyloric Atresia |
|
Oral mucosal blisters, Abdominal distention, Congenital pyloric atresia, Skin fragility with non-... |
ORPHA:158684 |
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome |
|
Inguinal hernia, Submucous cleft hard palate, Cleft palate, Failure of eruption of permanent teet... |
ORPHA:2250 |
Cutis Laxa, Autosomal Recessive, Type Ia |
|
Umbilical hernia, Inguinal hernia, Congenital diaphragmatic hernia |
OMIM:219100 |
Congenital Disorder Of Glycosylation, Type Ig |
|
Respiratory distress, Thin upper lip vermilion, Recurrent pneumonia, Recurrent upper respiratory ... |
OMIM:607143 |
Van Maldergem Syndrome 2 |
|
Irregular dentition, Tented upper lip vermilion, Micrognathia, Hypoplasia of the maxilla, Dental ... |
OMIM:615546 |
Myasthenia Gravis |
|
Dyspnea, Acrocyanosis, Hepatitis, Dysphagia |
ORPHA:589 |
Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Respiratory distress, Jaundice, Elevated circulating creatinine concentration, Prolonged neonatal... |
OMIM:274150 |
Monosomy 9Q22.3 |
|
Delayed eruption of teeth, Odontogenic keratocysts of the jaw, Orofacial cleft, Narrow mouth, Umb... |
ORPHA:77301 |
Adrenal Hypoplasia, Congenital |
|
Dehydration |
OMIM:300200 |
Fibrochondrogenesis 1 |
|
Narrow mouth, Cleft palate, Stillbirth, Protuberant abdomen, Long philtrum |
OMIM:228520 |
Beare-Stevenson Cutis Gyrata Syndrome |
|
Respiratory distress, Natal tooth, Feeding difficulties in infancy, Gingival overgrowth, Narrow p... |
OMIM:123790 |
Robinow Syndrome, Autosomal Recessive 1 |
|
Thin upper lip vermilion, Inguinal hernia, Tented upper lip vermilion, Dental crowding, Gingival ... |
OMIM:268310 |
Hypomandibular Faciocranial Dysostosis |
|
Death in infancy, Aplasia/Hypoplasia of the tongue, Polyhydramnios, Cleft palate, Narrow mouth, M... |
ORPHA:1790 |
Marbach-Schaaf Neurodevelopmental Syndrome |
|
Thin upper lip vermilion, Aggressive behavior, Submucous cleft hard palate, Downturned corners of... |
OMIM:619680 |
Mucopolysaccharidosis Type 3 |
|
Recurrent sinopulmonary infections, Hyperactivity, Malabsorption, Abnormality of the dentition, A... |
ORPHA:581 |
Infantile Krabbe Disease |
|
Respiratory distress, Abnormal circulating enzyme concentration or activity, Nasogastric tube fee... |
ORPHA:206436 |
Recon Progeroid Syndrome |
|
Prominence of the premaxilla, Dental crowding, Progeroid facial appearance, Livedo reticularis, D... |
OMIM:620370 |
Mitochondrial Complex I Deficiency, Nuclear Type 1 |
|
Death in infancy, Cyanosis, Apnea, Feeding difficulties in infancy, Respiratory insufficiency, Re... |
OMIM:252010 |
Neu-Laxova Syndrome 2 |
|
Edema, Micrognathia, Polyhydramnios, Cleft palate, High palate, Protuberant abdomen |
OMIM:616038 |
Martin-Probst Syndrome |
|
Wide mouth, Umbilical hernia, Thick lower lip vermilion, Dental malocclusion |
OMIM:300519 |
Robinow Syndrome |
|
Dental crowding, Persistence of primary teeth, Dental malocclusion, Gingival overgrowth, Orofacia... |
ORPHA:97360 |
Craniofrontonasal Syndrome |
|
Congenital diaphragmatic hernia, Abnormality of the dentition, Cleft upper lip, Cleft palate, Umb... |
OMIM:304110 |
Cardiofaciocutaneous Syndrome 1 |
|
Polyhydramnios, Micrognathia, Feeding difficulties in infancy, Open bite, Abnormality of the dent... |
OMIM:115150 |
Mogs-Cdg |
|
Respiratory distress, Hypoventilation, Pulmonary edema, Apnea, Chronic constipation, High palate,... |
ORPHA:79330 |
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis |
|
Delayed eruption of teeth, Thin upper lip vermilion, Dental crowding, Polyhydramnios, Micrognathi... |
OMIM:300990 |
Atrial Septal Defect, Coronary Sinus Type |
|
Cyanosis, Pneumonia, Increased pulmonary vascular resistance, Dyspnea, Anomalous pulmonary venous... |
ORPHA:99104 |
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia |
|
Protuberant abdomen |
OMIM:613330 |
Methemoglobinemia And Ambiguous Genitalia |
|
Cyanosis |
OMIM:250790 |
Schwartz-Jampel Syndrome |
|
Hip contracture, Inguinal hernia, Pursed lips, Shoulder flexion contracture, Supernumerary tooth,... |
ORPHA:800 |
Oculopharyngodistal Myopathy 1 |
|
Respiratory distress, Hypercapnia, Reduced forced vital capacity, Respiratory insufficiency due t... |
OMIM:164310 |
Acquired Purpura Fulminans |
|
Hepatic failure, Acrocyanosis, Macular purpura |
ORPHA:49566 |
Marburg Hemorrhagic Fever |
|
Anorexia, Abdominal pain, Aggressive behavior, Jaundice, Odynophagia, Diarrhea, Dehydration, Bloo... |
ORPHA:99826 |
Atrial Septal Defect, Ostium Secundum Type |
|
Orthopnea, Cyanosis, Pneumonia, Breathing dysregulation, Increased pulmonary vascular resistance,... |
ORPHA:99103 |
Mitochondrial Complex I Deficiency, Nuclear Type 37 |
|
Respiratory distress, Pulmonary arterial hypertension, High palate |
OMIM:619272 |
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
|
Thin upper lip vermilion, Aggressive behavior, Pyloric stenosis, Submucous cleft hard palate, Chr... |
ORPHA:457279 |
Okur-Chung Neurodevelopmental Syndrome |
|
Thin upper lip vermilion, Inguinal hernia, Protruding tongue, High palate, Umbilical hernia |
OMIM:617062 |
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies |
|
Cleft lip, Cleft palate, Thick vermilion border, Everted lower lip vermilion, Umbilical hernia, O... |
OMIM:301066 |
Premature Aging Syndrome, Penttinen Type |
|
Delayed eruption of teeth, Prominent superficial veins, Prematurely aged appearance, Micrognathia... |
OMIM:601812 |
Stickler Syndrome, Type I |
|
Micrognathia, Submucous cleft hard palate, Pierre-Robin sequence, Cleft palate, Malar flattening,... |
OMIM:108300 |
Familial Renal Glucosuria |
|
Dehydration |
ORPHA:69076 |
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Vomiting, Dehydration |
ORPHA:90791 |
Q Fever |
|
Elevated hepatic transaminase, Respiratory distress, Pneumonia, Anorexia, Hepatitis, Abnormal pul... |
ORPHA:781 |
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Elevated hepatic transaminase, Abnormal circulating enzyme concentration or activity, Respiratory... |
ORPHA:17 |
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked |
|
Everted upper lip vermilion, Abnormal oral mucosa morphology, Conical tooth, Hypoplasia of the ma... |
OMIM:305100 |
Unilateral Polymicrogyria |
|
Cyanosis, Apnea, Epistaxis, Pulmonary arteriovenous malformation, Pseudobulbar paralysis, Nasogas... |
ORPHA:268943 |
Nicolaides-Baraitser Syndrome |
|
Thin upper lip vermilion, Inguinal hernia, Short lingual frenulum, High, narrow palate, Thick low... |
OMIM:601358 |
Combined Immunodeficiency-Enteropathy Spectrum |
|
Intestinal malrotation, Jejunoileal ulceration, Abdominal distention, Hepatitis, Bloody diarrhea,... |
ORPHA:436252 |
Atelosteogenesis Type Ii |
|
Thin upper lip vermilion, Bilateral cleft palate, Cleft palate, Pulmonary hypoplasia, Protuberant... |
ORPHA:56304 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2 |
|
Umbilical hernia, Inguinal hernia, Long philtrum |
OMIM:614052 |
Hajdu-Cheney Syndrome |
|
Inguinal hernia, Intestinal malrotation, Abnormality of the dentition, Open bite, Cleft palate, D... |
ORPHA:955 |
Hypocalcemic Vitamin D-Dependent Rickets |
|
Delayed eruption of teeth, Elevated alkaline phosphatase of bone origin, Generalized aminoaciduri... |
ORPHA:289157 |
Holoprosencephaly 9 |
|
Hypoplasia of the premaxilla, Cleft upper lip, Hypoplasia of the maxilla, Agenesis of incisor, De... |
OMIM:610829 |
Frontorhiny |
|
Hypoplasia of the maxilla, Hypoplastic frontal sinuses, Bifid tongue, Cleft palate |
ORPHA:391474 |
Spinal muscular atrophy, type I, with congenital bone fractures |
|
Respiratory distress, High palate |
OMIM:271225 |
X-Linked Acrogigantism |
|
Diastema, Abdominal distention, Polyphagia |
ORPHA:300373 |
Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Abdominal distention, Thin vermilion border |
OMIM:602557 |
Meester-Loeys Syndrome |
|
Gingival overgrowth, High palate, Camptodactyly, Umbilical hernia, Joint contracture, Bifid uvula |
OMIM:300989 |
Elsahy-Waters Syndrome |
|
Mandibular prognathia, Delayed eruption of teeth, Anal stenosis, Thin upper lip vermilion, Hypopl... |
OMIM:211380 |
Junctional Epidermolysis Bullosa With Pyloric Atresia |
|
Nausea and vomiting, Oral mucosal blisters, Abdominal distention, Congenital pyloric atresia, Ena... |
ORPHA:79403 |
Short-Rib Thoracic Dysplasia 21 Without Polydactyly |
|
Neonatal respiratory distress, Short lingual frenulum, Feeding difficulties, Widely spaced teeth,... |
OMIM:619479 |
Digeorge Syndrome |
|
High, narrow palate, Asthma, Chronic pulmonary obstruction, Recurrent pneumonia, Atelectasis, Cle... |
OMIM:188400 |
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence |
|
Respiratory distress, Neonatal respiratory distress, Pierre-Robin sequence, Cleft palate, Anterio... |
OMIM:217980 |
Arterial Tortuosity Syndrome |
|
Respiratory distress, Prematurely aged appearance, Telangiectasia of the skin, Hiatus hernia, Pyl... |
ORPHA:3342 |
Weaver Syndrome |
|
Inguinal hernia, Diastasis recti, Camptodactyly, Umbilical hernia, Joint contracture of the hand,... |
OMIM:277590 |
Juvenile Nephropathic Cystinosis |
|
Poor appetite, Dehydration, Feeding difficulties, Vomiting, Polydipsia |
ORPHA:411634 |
Schimke Immunoosseous Dysplasia |
|
Microdontia, Dyspnea, Pulmonary arterial hypertension, Protuberant abdomen |
OMIM:242900 |
Incontinentia Pigmenti |
|
Delayed eruption of teeth, Abnormal dental morphology, Camptodactyly of finger, Abnormal dental e... |
ORPHA:464 |
Double Outlet Left Ventricle |
|
Pulmonary artery stenosis, Cyanosis, Tachypnea, Orofacial cleft |
ORPHA:3427 |
Orofaciodigital Syndrome Type 4 |
|
Abnormal oral mucosa morphology, Micrognathia, High, narrow palate, Abnormality of the gingiva, O... |
ORPHA:2753 |
Fibrochondrogenesis 2 |
|
Protuberant abdomen |
OMIM:614524 |
Fraser Syndrome 2 |
|
Intestinal malrotation, Abdominal distention, Rectal atresia, Respiratory failure, Narrow mouth, ... |
OMIM:617666 |
Diets-Jongmans Syndrome |
|
Thin upper lip vermilion, Inguinal hernia, Congenital diaphragmatic hernia, Wide mouth, Umbilical... |
OMIM:618846 |
Gapo Syndrome |
|
High, narrow palate, Thick lower lip vermilion, Eruption failure, Long philtrum, Umbilical hernia |
OMIM:230740 |
Congenital Myopathy 22B, Severe Fetal |
|
Respiratory distress, Tented upper lip vermilion, Dental crowding, Pleural effusion, High palate,... |
OMIM:620369 |
Dyggve-Melchior-Clausen Disease |
|
Abnormal circulating enzyme concentration or activity, Hyperactivity, Respiratory insufficiency d... |
ORPHA:239 |
Shprintzen-Goldberg Syndrome |
|
Inguinal hernia, Camptodactyly of finger, High, narrow palate, Aplasia/Hypoplasia of the abdomina... |
ORPHA:2462 |
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta |
|
Recurrent respiratory infections, Cyanosis, Aortopulmonary window, Pulmonary hypoplasia, Pulmonar... |
ORPHA:99050 |
Arthrogryposis Multiplex Congenita 5 |
|
Inguinal hernia, Flexion contracture, Elbow flexion contracture, Camptodactyly, Umbilical hernia,... |
OMIM:618947 |
Ehlers-Danlos Syndrome, Musculocontractural Type, 1 |
|
Thin upper lip vermilion, Scarring, Diastasis recti, Hiatus hernia, Intestinal malrotation, Narro... |
OMIM:601776 |
Mucopolysaccharidosis-Plus Syndrome |
|
Respiratory distress, Recurrent respiratory infections, Recurrent bronchopulmonary infections, Re... |
OMIM:617303 |
Multiple Endocrine Neoplasia Type 1 |
|
Duodenal ulcer, Peptic ulcer, Anorexia, Abdominal pain, Hematemesis, Diarrhea, Gingival fibromato... |
ORPHA:652 |
Pfeiffer Syndrome Type 2 |
|
Respiratory distress, Intestinal malrotation, Cleft palate, High palate, Tracheomalacia, Anal atr... |
ORPHA:93259 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1 |
|
Submucous cleft hard palate, Bifid uvula, Spinal dysraphism |
OMIM:617660 |
Viss Syndrome |
|
Chronic gastritis, Prominent superficial blood vessels, High, narrow palate, High palate, Gastroe... |
OMIM:619472 |
Mucopolysaccharidosis Type 7 |
|
Umbilical hernia, Inguinal hernia |
ORPHA:584 |
Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Abdominal distention, Upper airway obstruction |
ORPHA:93352 |
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Hypoplasia of the maxilla, Malar flattening |
OMIM:109120 |
Histiocytoid Cardiomyopathy |
|
Cyanosis, Tachypnea, Cleft palate, Vomiting, Cough, Pulmonary edema |
ORPHA:137675 |
Nablus Mask-Like Facial Syndrome |
|
Thin upper lip vermilion, Abnormality of the dentition, Hypoplasia of the maxilla, High palate, E... |
OMIM:608156 |
Hypothyroidism Due To Tsh Receptor Mutations |
|
Macroglossia, Umbilical hernia |
ORPHA:90673 |
Meier-Gorlin Syndrome 6 |
|
Umbilical hernia, Thick vermilion border, Cleft palate |
OMIM:616835 |
Structural Heart Defects And Renal Anomalies Syndrome |
|
Partial anomalous pulmonary venous return, Cyanosis, Elevated circulating creatinine concentratio... |
OMIM:617478 |
Hereditary Bullous Dystrophy, Macular Type |
|
Acrocyanosis, Pneumonia |
ORPHA:1867 |
Chromosome 13Q14 Deletion Syndrome |
|
Thin upper lip vermilion, Inguinal hernia, Deep philtrum, Everted lower lip vermilion, High palat... |
OMIM:613884 |
3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form |
|
Umbilical hernia, Inguinal hernia, Esophagitis |
ORPHA:79351 |
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome |
|
Thin upper lip vermilion, Aggressive behavior, Gastrointestinal dysmotility, Asthma, Nasal flarin... |
ORPHA:466943 |
Hajdu-Cheney Syndrome |
|
Inguinal hernia, Intestinal malrotation, Dental malocclusion, High palate, Narrow mouth, Umbilica... |
OMIM:102500 |
Marshall-Smith Syndrome |
|
Omphalocele, Eclabion, Irregular dentition, Short mandibular rami, Pyloric stenosis, Gingival ove... |
OMIM:602535 |
Multiple Endocrine Neoplasia Type 2 |
|
Reduced subcutaneous adipose tissue, Aganglionic megacolon, Abdominal distention, Abnormal tongue... |
ORPHA:653 |
Menkes Disease |
|
Inguinal hernia, Malabsorption, Aplasia/Hypoplasia of the abdominal wall musculature, Atypical sc... |
ORPHA:565 |
Congenital Enterovirus Infection |
|
Respiratory distress, Pleural effusion, Hepatic failure, Hepatitis |
ORPHA:292 |
Mucolipidosis Ii Alpha/Beta |
|
Inguinal hernia, Diastasis recti, Myelopathy, Gingival overgrowth, Wide mouth, Macroglossia, Camp... |
OMIM:252500 |
Specc1L-Related Hypertelorism Syndrome |
|
Omphalocele, Orofacial cleft, Thin vermilion border, Everted lower lip vermilion, Long philtrum, ... |
ORPHA:1519 |
Spondyloepiphyseal Dysplasia Congenita |
|
Respiratory distress, Pierre-Robin sequence, Cleft palate, Restrictive ventilatory defect, Bifid ... |
OMIM:183900 |
Dubowitz Syndrome |
|
Delayed eruption of teeth, Hyperactivity, Micrognathia, Feeding difficulties in infancy, Carious ... |
OMIM:223370 |
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects |
|
Esophageal atresia, Submucous cleft hard palate, Tracheoesophageal fistula, Attention deficit hyp... |
OMIM:619227 |
Nocardiosis |
|
Respiratory distress, Pneumonia, Anorexia, Productive cough, Nonproductive cough, Dyspnea, Pneumo... |
ORPHA:31204 |
Telangiectasia, Hereditary Hemorrhagic, Type 2 |
|
Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Cyanosis, Nail bed telangiectasia,... |
OMIM:600376 |
Achondrogenesis, Type Ia |
|
Stillbirth, Pulmonary hypoplasia, Protuberant abdomen, Protruding tongue |
OMIM:200600 |
Arboleda-Tham Syndrome |
|
Respiratory distress, Thin upper lip vermilion, Neonatal respiratory distress, Recurrent respirat... |
OMIM:616268 |
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
|
Cleft soft palate, Aggressive behavior, Nasogastric tube feeding in infancy, Supernumerary tooth,... |
ORPHA:268261 |
Desmosterolosis |
|
Intestinal malrotation, Micrognathia, Submucous cleft hard palate, Cleft palate, Feeding difficul... |
ORPHA:35107 |
Agnathia-Holoprosencephaly-Situs Inversus Syndrome |
|
Respiratory distress, Microglossia, Narrow mouth |
ORPHA:990 |
Lethal Kniest-Like Dysplasia |
|
Protuberant abdomen, Cleft palate |
ORPHA:2347 |
Meier-Gorlin Syndrome 1 |
|
Respiratory distress, Death in infancy, Feeding difficulties in infancy, Cleft palate, Thick verm... |
OMIM:224690 |
Cranioectodermal Dysplasia 1 |
|
Recurrent respiratory infections, High, narrow palate, Ectodermal dysplasia, High palate, Widely ... |
OMIM:218330 |
Simpson-Golabi-Behmel Syndrome |
|
Omphalocele, Inguinal hernia, Camptodactyly of finger, Congenital diaphragmatic hernia, Cleft upp... |
ORPHA:373 |
Pfeiffer Syndrome Type 3 |
|
Respiratory distress, Intestinal malrotation, Cleft palate, High palate, Tracheomalacia, Anal atr... |
ORPHA:93260 |
Greenberg Dysplasia |
|
Nonimmune hydrops fetalis, Polyhydramnios, Micrognathia, Hypoplasia of the maxilla, Increased nuc... |
OMIM:215140 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Abnormal circulating enzyme concentration or activity, Epistaxis, Carious teeth, Diarrhea, Oral u... |
ORPHA:79259 |
Neu-Laxova Syndrome |
|
Abnormality of the philtrum, Polyhydramnios, Micrognathia, Trismus, Submucous cleft hard palate, ... |
ORPHA:2671 |
Japanese Encephalitis |
|
Respiratory distress, Pulmonary edema, Anorexia, Abdominal pain, Diarrhea, Vomiting, Respiratory ... |
ORPHA:79139 |
Dyskeratosis Congenita |
|
Esophageal stenosis, Telangiectasia of the skin, Malabsorption, Hypoplasia of the maxilla, Cariou... |
ORPHA:1775 |
Nasopalpebral Lipoma-Coloboma Syndrome |
|
Hypoplasia of the maxilla |
OMIM:167730 |
Microphthalmia With Limb Anomalies |
|
Death in infancy, Macrodontia, Hypoplasia of the premaxilla, Micrognathia, Hypoplasia of the maxi... |
ORPHA:1106 |
Leptospirosis |
|
Nausea and vomiting, Respiratory distress, Anorexia, Abdominal pain, Jaundice, Diarrhea, Hepatiti... |
ORPHA:509 |
Limb-Mammary Syndrome |
|
Cleft hard palate, Cleft lip, Cleft palate, Hypodontia, Submucous cleft soft palate, Bifid uvula |
ORPHA:69085 |
Cutis Laxa, Autosomal Recessive, Type Iic |
|
Mandibular prognathia, Reduced subcutaneous adipose tissue, Prominent superficial veins, Dental c... |
OMIM:617402 |
Weill-Marchesani Syndrome 2 |
|
Elbow flexion contracture, Narrow palate, High palate, Umbilical hernia, Tooth malposition, Flexi... |
OMIM:608328 |
Mucopolysaccharidosis, Type Vi |
|
Delayed eruption of teeth, Inguinal hernia, Carious teeth, Flexion contracture, Cervical myelopat... |
OMIM:253200 |
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism |
|
Umbilical hernia, Long philtrum, Thin upper lip vermilion, Hiatus hernia |
OMIM:610199 |
Trichothiodystrophy |
|
Multiple joint contractures, Carious teeth, High, narrow palate, Absence of subcutaneous fat, Umb... |
ORPHA:33364 |
Hypothyroidism, Congenital, Nongoitrous, 2 |
|
Feeding difficulties in infancy, Abdominal distention, Stridor, Macroglossia, Constipation |
OMIM:218700 |
Achondroplasia |
|
Respiratory distress, Death in infancy, Upper airway obstruction, Feeding difficulties, Pulmonary... |
OMIM:100800 |
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly |
|
Accessory oral frenulum, Wide mouth, Macroglossia, Widely spaced teeth, High palate, Microdontia,... |
OMIM:266920 |
Opsismodysplasia |
|
Recurrent respiratory infections, Respiratory insufficiency, Protuberant abdomen, Long philtrum |
OMIM:258480 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Mandibular prognathia, Dental crowding, Fetal ascites, Micrognathia, Deep philtrum, Facial erythe... |
OMIM:619503 |
Hardikar Syndrome |
|
Cleft soft palate, Intestinal malrotation, Abdominal pain, Hematemesis, Celiac disease, Jaundice,... |
OMIM:301068 |
Van Den Ende-Gupta Syndrome |
|
Dental crowding, Micrognathia, Hypoplasia of the maxilla, High, narrow palate, Cleft palate, High... |
OMIM:600920 |
Liver Disease, Severe Congenital |
|
Elevated hepatic transaminase, Chronic gastritis, Pneumonia, Intrahepatic cholestasis, Jaundice, ... |
OMIM:619991 |
Metachromatic Leukodystrophy, Late Infantile Form |
|
Feeding difficulties in infancy, Abdominal distention |
ORPHA:309256 |
Treacher Collins Syndrome 1 |
|
Cleft soft palate, Micrognathia, Cleft palate, Wide mouth, Abnormal parotid gland morphology, Nar... |
OMIM:154500 |
Isolated Atp Synthase Deficiency |
|
Respiratory distress |
ORPHA:254913 |
Scimitar Syndrome |
|
Respiratory distress, Recurrent respiratory infections, Abnormal lung morphology, Pneumothorax, P... |
ORPHA:185 |
Microphthalmia, Syndromic 2 |
|
Delayed eruption of teeth, Persistence of primary teeth, Supernumerary tooth, Flexion contracture... |
OMIM:300166 |
Bartter Syndrome, Type 2, Antenatal |
|
Polyhydramnios, Diarrhea, Dehydration, Constipation, Vomiting, Polydipsia |
OMIM:241200 |
Rubinstein-Taybi Syndrome 1 |
|
Dental crowding, Polyhydramnios, Micrognathia, Hypoplasia of the maxilla, Feeding difficulties in... |
OMIM:180849 |
Hunter-Macdonald Syndrome |
|
Thin upper lip vermilion, Inguinal hernia, Short philtrum, Camptodactyly, Umbilical hernia, Joint... |
OMIM:611962 |
Dermatomyositis |
|
Recurrent respiratory infections, Telangiectasia of the skin, Gastrointestinal stroma tumor, Feed... |
ORPHA:221 |
Pancreatic Triacylglycerol Lipase Deficiency |
|
Abdominal pain, Abdominal distention, Diarrhea, Colitis, Steatorrhea |
ORPHA:309031 |
Zttk Syndrome |
|
Abnormality of the dentition, Hypoplasia of the maxilla, Feeding difficulties in infancy, Chronic... |
OMIM:617140 |
Currarino Syndrome |
|
Anal stenosis, Perianal abscess, Gastrointestinal obstruction, Abdominal distention, Chronic cons... |
OMIM:176450 |
Saethre-Chotzen Syndrome |
|
Hypoplasia of the maxilla, Cleft palate, Open bite, Narrow palate |
ORPHA:794 |
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis |
|
Stomatitis, Respiratory distress, Pulmonary fibrosis |
OMIM:612852 |
Atelosteogenesis, Type I |
|
Neonatal death, Protuberant abdomen, Stillbirth, Cleft palate |
OMIM:108720 |
Cryptococcosis |
|
Respiratory distress, Pneumonia, Nodular pattern on pulmonary HRCT, Dyspnea, Vomiting, Cough, Ple... |
ORPHA:1546 |
Telangiectasia, Hereditary Hemorrhagic, Type 4 |
|
Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Cyanosis, Pulmonary arteriovenous ... |
OMIM:610655 |
Brachytelephalangic Chondrodysplasia Punctata |
|
Hypoplasia of the maxilla, Increased nuchal translucency, Feeding difficulties, Hypoplasia of the... |
ORPHA:79345 |
Hypermobile Ehlers-Danlos Syndrome |
|
Inguinal hernia, Abnormality of the dentition, Malabsorption, Genital hernia, Cystocele, Aplasia/... |
ORPHA:285 |
Meier-Gorlin Syndrome 3 |
|
Microretrognathia, Micrognathia, Hypoplasia of the maxilla, Feeding difficulties, Gastroesophagea... |
OMIM:613803 |
Eisenmenger Syndrome |
|
Respiratory distress, Cyanosis, Increased pulmonary vascular resistance, Abdominal distention, Wh... |
ORPHA:97214 |
Ablepharon Macrostomia Syndrome |
|
Omphalocele, Camptodactyly of finger, Wide mouth, Thin vermilion border, Microdontia, Umbilical h... |
ORPHA:920 |
Menke-Hennekam Syndrome 1 |
|
Thin upper lip vermilion, Inguinal hernia, Everted upper lip vermilion, Deep philtrum, Flexion co... |
OMIM:618332 |
Mucolipidosis Type Ii |
|
Respiratory failure requiring assisted ventilation, Recurrent respiratory infections, Gingival ov... |
ORPHA:576 |
Fucosidosis |
|
Acrocyanosis, Vascular skin abnormality, Abnormality of the dentition |
ORPHA:349 |
Osteogenesis Imperfecta, Type X |
|
Respiratory distress, Pyloric stenosis, Recurrent pneumonia, Death in childhood, Dentinogenesis i... |
OMIM:613848 |
Developmental And Epileptic Encephalopathy 68 |
|
Respiratory distress |
OMIM:618201 |
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Vomiting, Dehydration, Feeding difficulties |
ORPHA:168558 |
Aortic Arch Interruption |
|
Respiratory distress, Cyanosis, Feeding difficulties in infancy, Tachypnea, Aortopulmonary window... |
ORPHA:2299 |
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies |
|
Umbilical hernia, Thin lower lip vermilion |
ORPHA:221139 |
Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Dental crowding, Impulsivity, Aggressive behavior, High, narrow palate, Wide mouth, Gastroesophag... |
OMIM:300967 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Pulmonary artery dilatation, Recurrent respiratory infections, Elevated circulating aspartate ami... |
OMIM:619534 |
Stickler Syndrome |
|
Abnormal dental enamel morphology, Micrognathia, Hypoplasia of the maxilla, Feeding difficulties ... |
ORPHA:828 |
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Vomiting, Dehydration, Feeding difficulties |
ORPHA:289548 |
Cleidocranial Dysplasia 2 |
|
Hypoplasia of the maxilla, Supernumerary tooth, Delayed eruption of primary teeth |
OMIM:620099 |
Dubowitz Syndrome |
|
Delayed eruption of teeth, Anal stenosis, Cutis marmorata, Micrognathia, Malabsorption, Abnormali... |
ORPHA:235 |
Microlissencephaly-Micromelia Syndrome |
|
Respiratory distress, Long philtrum |
ORPHA:50810 |
Neurofacioskeletal Syndrome With Or Without Renal Agenesis |
|
Thin upper lip vermilion, Deep philtrum, Submucous cleft hard palate, Thin lower lip vermilion, F... |
OMIM:619194 |
Coffin-Siris Syndrome 1 |
|
Delayed eruption of teeth, Thin upper lip vermilion, Inguinal hernia, Duodenal ulcer, Intestinal ... |
OMIM:135900 |
Acrodysostosis 1 With Or Without Hormone Resistance |
|
Mandibular prognathia, Delayed eruption of teeth, Hypoplasia of the maxilla, Dental malocclusion,... |
OMIM:101800 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3 |
|
Anal stenosis, Absence of Stensen duct, Selective tooth agenesis, Cleft upper lip, Hypoplasia of ... |
OMIM:604292 |
Focal Dermal Hypoplasia |
|
Omphalocele, Delayed eruption of teeth, Inguinal hernia, Diastasis recti, Congenital diaphragmati... |
OMIM:305600 |
Congenital Disorder Of Deglycosylation 1 |
|
Elevated hepatic transaminase, Restlessness, Respiratory distress, Recurrent respiratory infectio... |
OMIM:615273 |
Aneurysm-Osteoarthritis Syndrome |
|
Inguinal hernia, Camptodactyly of finger, Dental malocclusion, Cleft palate, Atypical scarring of... |
ORPHA:284984 |
Ogden Syndrome |
|
Thin upper lip vermilion, Inguinal hernia, Everted upper lip vermilion, Abnormality of the dentit... |
OMIM:300855 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1 |
|
Absence of Stensen duct, Selective tooth agenesis, Cleft upper lip, Hypoplasia of the maxilla, Ca... |
OMIM:129900 |
Isolated Thyroid-Stimulating Hormone Deficiency |
|
Macroglossia, Umbilical hernia |
ORPHA:90674 |
Cystinosis, Nephropathic |
|
Oral-pharyngeal dysphagia, Dehydration, Dysphagia, Polydipsia, Exocrine pancreatic insufficiency |
OMIM:219800 |
Fraser Syndrome |
|
Encephalocele, Omphalocele, Anal stenosis, Dental crowding, Cleft upper lip, Myelomeningocele, De... |
ORPHA:2052 |
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
|
Abdominal distention, Pulmonary hypoplasia, Anal atresia |
OMIM:271520 |
Bartter Syndrome, Type 1, Antenatal |
|
Polyhydramnios, Diarrhea, Dehydration, Constipation, Vomiting |
OMIM:601678 |
Heterotaxy, Visceral, 7, Autosomal |
|
Cyanosis, Intestinal malrotation, Pulmonary artery hypoplasia, Total anomalous pulmonary venous r... |
OMIM:616749 |
Schinzel-Giedion Syndrome |
|
Delayed eruption of teeth, Inguinal hernia, Aganglionic megacolon, Abnormality of the gingiva, An... |
ORPHA:798 |
Campomelic Dysplasia |
|
Respiratory distress, Irregular dentition, Neonatal respiratory distress, Apnea, Carious teeth, S... |
OMIM:114290 |
Cardiofaciocutaneous Syndrome |
|
Lymphedema, Feeding difficulties in infancy, Submucous cleft hard palate, Functional abnormality ... |
ORPHA:1340 |
Listeriosis |
|
Respiratory distress, Miscarriage, Pneumonia, Abdominal pain, Jaundice, Diarrhea, Respiratory fai... |
ORPHA:533 |
Floating-Harbor Syndrome |
|
Restlessness, Impulsivity, Persistence of primary teeth, Hypoplasia of the maxilla, Carious teeth... |
ORPHA:2044 |
Mitochondrial Dna-Associated Leigh Syndrome |
|
Apnea, Abnormality of Krebs cycle metabolism, Dyspnea, Episodic respiratory distress, Dysphagia, ... |
ORPHA:255210 |
Metachromatic Leukodystrophy, Juvenile Form |
|
Abdominal distention |
ORPHA:309263 |
Poems Syndrome |
|
Edema, Pericardial effusion, Acrocyanosis, Pleural effusion, Ascites |
ORPHA:2905 |
Goldberg-Shprintzen Syndrome |
|
Aganglionic megacolon, Hypoplasia of the maxilla, Oligodontia, Short philtrum, Thick vermilion bo... |
OMIM:609460 |
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Miscarriage, Dehydration, Feeding difficulties, Vomiting, Hypocapnia |
ORPHA:90794 |
Tetrasomy 9P |
|
Abnormal number of permanent teeth, Dental crowding, Abnormal dental enamel morphology, Median cl... |
ORPHA:3310 |
Doors Syndrome |
|
Respiratory distress, Thin upper lip vermilion, Short lingual frenulum, Abnormality of the dentit... |
ORPHA:79500 |
Hyperparathyroidism, Transient Neonatal |
|
Umbilical hernia, Inguinal hernia |
OMIM:618188 |
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects |
|
Umbilical hernia, Flexion contracture, Cleft upper lip |
OMIM:308050 |
Bartter Syndrome, Type 3 |
|
Dehydration |
OMIM:607364 |
Metachromatic Leukodystrophy, Adult Form |
|
Abdominal distention, Bowel incontinence |
ORPHA:309271 |
Congenital Total Pulmonary Venous Return Anomaly |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Recurrent respiratory i... |
ORPHA:99125 |
Walker-Warburg Syndrome |
|
Submucous cleft hard palate, Bifid uvula, Cleft palate |
ORPHA:899 |
Fontaine Progeroid Syndrome |
|
Reduced subcutaneous adipose tissue, Thin upper lip vermilion, Protruding tongue, Hypoplasia of t... |
OMIM:612289 |
Hutchinson-Gilford Progeria Syndrome |
|
Delayed eruption of teeth, Prominent superficial blood vessels, Cyanosis, Dental crowding, Short ... |
ORPHA:740 |
Fanconi Anemia |
|
Aganglionic megacolon, Spina bifida, Aplasia/Hypoplasia of the uvula, Tracheoesophageal fistula, ... |
ORPHA:84 |
Bartter Syndrome Type 4 |
|
Dehydration, Vomiting, Polyhydramnios, Nasogastric tube feeding |
ORPHA:89938 |
Neurodegeneration And Seizures Due To Copper Transport Defect |
|
Respiratory distress, Pneumothorax, Pulmonary hypoplasia |
OMIM:620306 |
Glycogen Storage Disease Ib |
|
Elevated hepatic transaminase, Inflammation of the large intestine, Oral ulcer, Protuberant abdomen |
OMIM:232220 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Elevated hepatic transaminase, Progeroid facial appearance, Thick lower lip vermilion, Erythema, ... |
OMIM:256040 |
3Mc Syndrome 2 |
|
Prominence of the premaxilla, Cleft upper lip, Cleft palate, Downturned corners of mouth, High pa... |
OMIM:265050 |
Holoprosencephaly 13, X-Linked |
|
Median cleft lip, Micrognathia, Submucous cleft hard palate, Cleft palate, Gastroesophageal reflu... |
OMIM:301043 |
Classical Ehlers-Danlos Syndrome |
|
Abnormality of the temporomandibular joint, Prematurely aged appearance, Poor wound healing, Naus... |
ORPHA:287 |
Biotinidase Deficiency |
|
Respiratory distress, Decreased circulating biotinidase concentration, Apnea, Hyperventilation |
ORPHA:79241 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Respiratory distress, Recurrent respiratory infections, Stridor, Macroglossia, Thick vermilion bo... |
ORPHA:505248 |
Isolated Permanent Neonatal Diabetes Mellitus |
|
Downturned corners of mouth, Dehydration |
ORPHA:99885 |
Postinfectious Vasculitis |
|
Viral hepatitis, Palpable purpura, Cutis marmorata, Pneumonia, Anorexia, Abdominal pain, Gastroin... |
ORPHA:48435 |
Congenital Alveolar Capillary Dysplasia |
|
Respiratory distress, Aganglionic megacolon, Intestinal malrotation, Tracheoesophageal fistula, D... |
ORPHA:210122 |
Cardiomyopathy, Familial Hypertrophic, 4 |
|
Respiratory distress, Dyspnea, Pulmonary edema |
OMIM:115197 |
Tuberous Sclerosis Complex |
|
Respiratory distress, Hyperactivity, Impulsivity, Aggressive behavior, Respiratory tract infectio... |
ORPHA:805 |
Weill-Marchesani Syndrome 1 |
|
Hypoplasia of the maxilla, Tooth malposition, Narrow palate |
OMIM:277600 |
Wrinkly Skin Syndrome |
|
Delayed eruption of teeth, Inguinal hernia, Lipodystrophy, Carious teeth, High palate, Small, con... |
ORPHA:2834 |
Myhre Syndrome |
|
Mandibular prognathia, Thin upper lip vermilion, Hypoplasia of the maxilla, Pericardial effusion,... |
OMIM:139210 |
Cleidocranial Dysplasia 1 |
|
Respiratory distress, Neonatal respiratory distress, Delayed eruption of primary teeth, High, nar... |
OMIM:119600 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Inguinal hernia, Femoral hernia, Abnormal dental enamel morphology, High, narrow palate, Submucou... |
ORPHA:2658 |
Alpha-Mannosidosis, Infantile Form |
|
Macroglossia, Umbilical hernia, Widely spaced teeth |
ORPHA:309282 |
Osteoglophonic Dysplasia |
|
Mandibular prognathia, Delayed eruption of teeth, Hypoplasia of the maxilla, Eruption failure, Hi... |
OMIM:166250 |
Kyphoscoliotic Ehlers-Danlos Syndrome |
|
Atypical scarring of skin, Umbilical hernia, Inguinal hernia, High palate |
ORPHA:536545 |
Acromesomelic Dysplasia 4 |
|
Umbilical hernia |
OMIM:619636 |
Multicentric Osteolysis, Nodulosis, And Arthropathy |
|
Hypoplasia of the maxilla, Gingival overgrowth, Delayed eruption of teeth, Micrognathia |
OMIM:259600 |
Marden-Walker Syndrome |
|
Micrognathia, Pyloric stenosis, Submucous cleft hard palate, Cleft palate, Feeding difficulties, ... |
ORPHA:2461 |
Familial Dysautonomia |
|
Recurrent respiratory infections, Abnormal pleura morphology, Feeding difficulties in infancy, Ga... |
ORPHA:1764 |
Blomstrand Lethal Chondrodysplasia |
|
Natal tooth, Protruding tongue, Pulmonary hypoplasia, Protuberant abdomen, Long philtrum |
ORPHA:50945 |
Aicardi Syndrome |
|
Intestinal polyposis, Prominence of the premaxilla, Hiatus hernia, Feeding difficulties in infanc... |
ORPHA:50 |
Beckwith-Wiedemann Syndrome |
|
Omphalocele, Inguinal hernia, Diastasis recti, Congenital diaphragmatic hernia, Large placenta, C... |
ORPHA:116 |
Mowat-Wilson Syndrome |
|
Delayed eruption of teeth, Aganglionic megacolon, Pulmonary artery sling, Pyloric stenosis, Abdom... |
OMIM:235730 |
Shwachman-Diamond Syndrome 1 |
|
Elevated hepatic transaminase, Neonatal respiratory distress, Respiratory distress, Steatorrhea |
OMIM:260400 |
Mucopolysaccharidosis Type 2, Severe Form |
|
Inguinal hernia, Abnormal dental morphology, Camptodactyly of finger, Flexion contracture, Gingiv... |
ORPHA:217085 |
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Mandibular prognathia, Tented upper lip vermilion, Miscarriage, Polyhydramnios, Micrognathia, Hyp... |
ORPHA:96334 |
Aspartylglucosaminuria |
|
Inguinal hernia, Abnormality of the dentition, Carious teeth, Malabsorption, Gingival overgrowth,... |
ORPHA:93 |
Neuroocular Syndrome |
|
Short uvula, Submucous cleft hard palate, Downturned corners of mouth, Widely spaced teeth, Torus... |
OMIM:619539 |
Glycogen Storage Disease Ia |
|
Elevated hepatic transaminase, Intermittent diarrhea, Protuberant abdomen |
OMIM:232200 |
Mucopolysaccharidosis Type 2, Attenuated Form |
|
Inguinal hernia, Abnormal dental morphology, Camptodactyly of finger, Flexion contracture, Gingiv... |
ORPHA:217093 |
Wrinkly Skin Syndrome |
|
Delayed eruption of teeth, Inguinal hernia, Carious teeth, High palate, Long philtrum, Microdonti... |
OMIM:278250 |
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome |
|
Respiratory distress, Recurrent respiratory infections, Neonatal respiratory distress, Erythema, ... |
OMIM:614748 |
Coffin-Lowry Syndrome |
|
Mandibular prognathia, Cutis marmorata, Rectal prolapse, Thick lower lip vermilion, Dental malocc... |
OMIM:303600 |
Diamond-Blackfan Anemia 10 |
|
Respiratory distress, Cleft palate |
OMIM:613309 |
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
|
Intestinal malrotation, Cleft soft palate, Flexion contracture, Downturned corners of mouth, Smoo... |
OMIM:619321 |
Early Infantile Epileptic Encephalopathy |
|
Umbilical hernia, Cleft palate |
ORPHA:1934 |
Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Prominence of the premaxilla, Hepatic failure, Poor suck |
OMIM:614886 |
Mucopolysaccharidosis Type 2 |
|
Inguinal hernia, Gingival overgrowth, Contractures of the large joints, Macroglossia, Thick vermi... |
ORPHA:580 |
Craniofacial-Deafness-Hand Syndrome |
|
Hypoplasia of the maxilla, Malar flattening |
OMIM:122880 |
Peters Plus Syndrome |
|
Intestinal fistula, Inguinal hernia, Thin upper lip vermilion, Exaggerated cupid's bow, Cleft upp... |
ORPHA:709 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Gastroparesis, Hypoplasia of the maxilla, Feeding difficulties in infancy, Gastrointestinal dysmo... |
ORPHA:500150 |
Lipodystrophy, Congenital Generalized, Type 1 |
|
Reduced subcutaneous adipose tissue, Prominent umbilicus, Lipodystrophy, Reduced intraabdominal a... |
OMIM:608594 |
Diamond-Blackfan Anemia |
|
Nonimmune hydrops fetalis, Cleft soft palate, Micrognathia, Cleft lip, High palate, Adenocarcinom... |
ORPHA:124 |
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome |
|
Mandibular prognathia, Hypoplasia of the maxilla |
ORPHA:3044 |
Carpenter Syndrome 2 |
|
Carious teeth, High, narrow palate, Dental malocclusion, Narrow palate, Knee flexion contracture,... |
OMIM:614976 |
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type |
|
Cleft upper lip, Esophageal atresia, Abdominal distention, Respiratory insufficiency, Ectopic anu... |
ORPHA:93271 |
Plague |
|
Respiratory distress, Chapped lip, Anorexia, Abdominal pain, Hematemesis, Diarrhea, Enterocolitis... |
ORPHA:707 |
Floating-Harbor Syndrome |
|
Thin upper lip vermilion, Inguinal hernia, Celiac disease, Carious teeth, Downturned corners of m... |
OMIM:136140 |
Heart Defects, Congenital, And Other Congenital Anomalies |
|
Inguinal hernia, Intestinal malrotation, Congenital diaphragmatic hernia, Aplasia of the left hem... |
OMIM:600001 |
Bartsocas-Papas Syndrome 1 |
|
Anal stenosis, Micrognathia, Hypoplasia of the maxilla, Cleft upper lip, Cleft palate, Oral synec... |
OMIM:263650 |
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome |
|
Respiratory distress, Pulmonary arterial hypertension |
ORPHA:2519 |
Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Exaggerated median tongue furrow, Inguinal hernia, Diastasis recti, Congenital diaphragmatic hern... |
OMIM:312870 |
Restrictive Dermopathy 1 |
|
Natal tooth, Prominent superficial blood vessels, Polyhydramnios, Micrognathia, Submucous cleft h... |
OMIM:275210 |
Heterotaxy, Visceral, 1, X-Linked |
|
Respiratory distress, Bilateral trilobed lung, Cyanosis, Posteriorly placed anus, Total anomalous... |
OMIM:306955 |
Cardiac Valvular Dysplasia 2 |
|
Central cyanosis, Pulmonary artery dilatation |
OMIM:620067 |
Truncus Arteriosus |
|
Cyanosis, Anomalous origin of one pulmonary artery from ascending aorta, Pulmonary artery stenosi... |
ORPHA:3384 |
Osteogenesis Imperfecta |
|
Delayed eruption of teeth, Inguinal hernia, Abnormality of dental color, Intestinal obstruction, ... |
ORPHA:666 |
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type |
|
Polyhydramnios, Micrognathia, Submucous cleft hard palate, Feeding difficulties, Neoplasm of the ... |
ORPHA:3047 |
Primary Hyperoxaluria |
|
Cutis marmorata, Abnormality of the dentition, Rootless teeth, Abnormal dental pulp morphology, A... |
ORPHA:416 |
Peters-Plus Syndrome |
|
Thin upper lip vermilion, Short lingual frenulum, Diastasis recti, Bilateral cleft lip, Cleft upp... |
OMIM:261540 |
Developmental And Epileptic Encephalopathy 89 |
|
Microretrognathia, Thin upper lip vermilion, Cleft palate, Death in childhood, Long philtrum, Neo... |
OMIM:619124 |
Lipodystrophy, Congenital Generalized, Type 2 |
|
Reduced subcutaneous adipose tissue, Prominent umbilicus, Lipodystrophy, Reduced intraabdominal a... |
OMIM:269700 |
Loeys-Dietz Syndrome 2 |
|
Inguinal hernia, Eosinophilic infiltration of the esophagus, Cleft palate, Camptodactyly, Umbilic... |
OMIM:610168 |
Axenfeld-Rieger Syndrome, Type 1 |
|
Thin upper lip vermilion, Anal stenosis, Hypoplasia of the maxilla, Oligodontia, Short philtrum, ... |
OMIM:180500 |
Nasopalpebral Lipoma-Coloboma Syndrome |
|
Hypoplasia of the maxilla |
ORPHA:2399 |
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome |
|
Hypoplasia of the maxilla, Cleft palate, Aplasia/Hypoplasia of the frontal sinuses, Hypoplasia of... |
ORPHA:306542 |
Leprechaunism |
|
Reduced subcutaneous adipose tissue, Abdominal distention, Rectal prolapse, Megarectum, Thick ver... |
ORPHA:508 |
8Q24.3 Microdeletion Syndrome |
|
Gastrointestinal hemorrhage, Thin upper lip vermilion, Hyperactivity, Respiratory distress, Feedi... |
ORPHA:508488 |
Microcephaly, Developmental Delay, And Brittle Hair Syndrome |
|
Feeding difficulties in infancy, Attention deficit hyperactivity disorder, Submucous cleft hard p... |
OMIM:618891 |
Loeys-Dietz Syndrome 3 |
|
Inguinal hernia, Eosinophilic infiltration of the esophagus, Cystocele, Dental malocclusion, Clef... |
OMIM:613795 |
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities |
|
Thin upper lip vermilion, High palate, Long philtrum, Umbilical hernia, Bifid uvula |
OMIM:620330 |
Neuromuscular Oculoauditory Syndrome |
|
Respiratory distress, Aspiration |
OMIM:618733 |
Williams Syndrome |
|
Rectal prolapse, Microdontia, Spina bifida occulta, Abnormal dental morphology, Abnormal dental e... |
ORPHA:904 |
Vascular Ehlers-Danlos Syndrome |
|
Inguinal hernia, Premature loss of primary teeth, Microdontia, Abnormality of the dentition, High... |
ORPHA:286 |
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
|
Macroglossia, Umbilical hernia |
ORPHA:226307 |
Cardiac, Facial, And Digital Anomalies With Developmental Delay |
|
Umbilical hernia |
OMIM:618164 |
Pallister-Hall Syndrome |
|
Natal tooth, Inguinal hernia, Accessory oral frenulum, Cleft lip, Cleft palate, Distal arthrogryp... |
ORPHA:672 |
Coccidioidomycosis |
|
Respiratory distress, Pneumonia, Pulmonary infiltrates, Pleural empyema, Parenchymal consolidatio... |
ORPHA:228123 |
Pyknoachondrogenesis |
|
Abdominal distention, Abnormality of mouth shape |
ORPHA:3003 |
Holoprosencephaly 2 |
|
Aplasia of the premaxilla, Submucous cleft hard palate, Bilateral cleft lip and palate, Constipat... |
OMIM:157170 |
Craniosynostosis And Dental Anomalies |
|
Mandibular prognathia, Delayed eruption of teeth, Dental crowding, Hypoplasia of the maxilla, Sup... |
OMIM:614188 |
Monosomy 22Q13.3 |
|
Umbilical hernia, Dental crowding, Dental malocclusion |
ORPHA:48652 |
Omodysplasia 1 |
|
Umbilical hernia, Long philtrum |
OMIM:258315 |
Stüve-Wiedemann Syndrome |
|
Respiratory distress, Apnea, Abnormality of the dentition, Feeding difficulties in infancy, Asthm... |
ORPHA:3206 |
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability |
|
Respiratory distress, Thin upper lip vermilion, Abnormality of the dentition, Gingival overgrowth... |
ORPHA:480880 |
Primrose Syndrome |
|
Restlessness, Aggressive behavior, Hypoplasia of the maxilla, Abnormal repetitive mannerisms, Thi... |
OMIM:259050 |
Gitelman Syndrome |
|
Nausea and vomiting, Respiratory distress, Salt craving, Abdominal pain, Diarrhea, Constipation, ... |
ORPHA:358 |
Cardiac Diverticulum |
|
Omphalocele, Umbilical hernia, Abdominal wall defect, Diastasis recti |
ORPHA:1686 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Respiratory distress, Pyloric stenosis, Cleft palate, Pulmonary hypoplasia, Narrow mouth, Gastros... |
ORPHA:83617 |
Mowat-Wilson Syndrome |
|
Mandibular prognathia, Dental crowding, Cleft hard palate, Gastrointestinal dysmotility, Vomiting... |
ORPHA:2152 |
Cardiac Valvular Dysplasia 1 |
|
Cyanosis, Hydrops fetalis, Edema |
OMIM:212093 |
Microphthalmia With Linear Skin Defects Syndrome |
|
Respiratory distress, Abnormal dental enamel morphology, Dyspnea, Erythema, Feeding difficulties,... |
ORPHA:2556 |
Chromosome 1P36 Deletion Syndrome, Distal |
|
Cleft upper lip, Feeding difficulties in infancy, Aggressive behavior, Self-mutilation, Submucous... |
OMIM:607872 |
Primary Fanconi Renotubular Syndrome |
|
Dehydration |
ORPHA:3337 |
Otopalatodigital Syndrome, Type Ii |
|
Omphalocele, Elbow contracture, Spina bifida, Cleft palate, Narrow mouth, Umbilical hernia |
OMIM:304120 |
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
|
Umbilical hernia, Hernia, Intestinal malrotation, Congenital diaphragmatic hernia |
ORPHA:2255 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Mandibular prognathia, Dental crowding, Cleft hard palate, Short philtrum, Abnormal repetitive ma... |
ORPHA:261537 |
Williams-Beuren Syndrome |
|
Colonic diverticula, Inguinal hernia, Celiac disease, Rectal prolapse, Flexion contracture, Thick... |
OMIM:194050 |
Singleton-Merten Syndrome 1 |
|
Thin upper lip vermilion, Hypoplasia of the maxilla, Carious teeth, Eruption failure, Pleural eff... |
OMIM:182250 |
Ifap Syndrome 1, With Or Without Bresheck Syndrome |
|
Omphalocele, Inguinal hernia, Aganglionic megacolon, Cleft palate, Umbilical hernia |
OMIM:308205 |
Wiedemann-Rautenstrauch Syndrome |
|
Reduced subcutaneous adipose tissue, Natal tooth, Prominent scalp veins, Thin upper lip vermilion... |
ORPHA:3455 |
Generalized Arterial Calcification Of Infancy |
|
Cyanosis, Polyhydramnios, Edema, Pericardial effusion, Hydrops fetalis, Feeding difficulties, Vom... |
ORPHA:51608 |
Saethre-Chotzen Syndrome |
|
Hypoplasia of the maxilla, Cleft of chin, Cleft palate, Narrow palate, Malar flattening |
OMIM:101400 |
Charge Syndrome |
|
Omphalocele, Anal stenosis, Cleft upper lip, Esophageal atresia, Tracheoesophageal fistula, Cleft... |
OMIM:214800 |
Pallister-Killian Syndrome |
|
Tented upper lip vermilion, Congenital diaphragmatic hernia, Flexion contracture, Anteriorly plac... |
OMIM:601803 |
Atresia Of Urethra |
|
Abdominal distention |
ORPHA:105 |
Short-Rib Thoracic Dysplasia 15 With Polydactyly |
|
Respiratory distress, Median cleft lip, Accessory oral frenulum, Supernumerary tooth, Aplasia of ... |
OMIM:617088 |
Cutis Laxa, Autosomal Recessive, Type Ib |
|
Prominence of the premaxilla, High palate, Oligohydramnios, Micrognathia |
OMIM:614437 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Mandibular prognathia, Dental crowding, Cleft hard palate, Short philtrum, Abnormal repetitive ma... |
ORPHA:261552 |
Coffin-Siris Syndrome 12 |
|
Micrognathia, Celiac disease, Velopharyngeal insufficiency, Submucous cleft hard palate, Feeding ... |
OMIM:619325 |
Ulbright-Hodes Syndrome |
|
Respiratory distress, Pneumothorax, Respiratory failure, Thin vermilion border, High palate, Pulm... |
ORPHA:3404 |
Cohen-Gibson Syndrome |
|
Umbilical hernia, Flexion contracture, Camptodactyly |
OMIM:617561 |
Restrictive Dermopathy |
|
Natal tooth, Multiple joint contractures, Camptodactyly of finger, Large placenta, Submucous clef... |
ORPHA:1662 |
Aicardi Syndrome |
|
Cleft upper lip, Prominence of the premaxilla, Cleft palate, Hiatus hernia |
OMIM:304050 |
Sotos Syndrome |
|
Hip contracture, Inguinal hernia, Aganglionic megacolon, Ankle flexion contracture, Abnormality o... |
ORPHA:821 |
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii |
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Micrognathia, Submucous cleft hard palate, Cleft palate, Thick vermilion border, Malar flattening... |
ORPHA:2636 |
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly |
|
Protuberant abdomen |
OMIM:618019 |
Aicardi-Goutières Syndrome |
|
Elevated hepatic transaminase, Acrocyanosis, Cutis marmorata, Prolonged neonatal jaundice |
ORPHA:51 |
Townes-Brocks Syndrome 1 |
|
Anal stenosis, Rectoperineal fistula, Tracheoesophageal fistula, Rectovaginal fistula, Umbilical ... |
OMIM:107480 |
Isolated Arrhinia |
|
Respiratory distress |
ORPHA:1134 |
Craniofacial Microsomia 1 |
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Micrognathia, Hypoplasia of the maxilla, Cleft upper lip, Cleft palate, Wide mouth, Branchial ano... |
OMIM:164210 |
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria |
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Respiratory distress, Nasogastric tube feeding in infancy, Recurrent pneumonia, Feeding difficult... |
ORPHA:99646 |
Alström Syndrome |
|
Elevated hepatic transaminase, Respiratory distress, Abnormality of dental color, Dorsocervical f... |
ORPHA:64 |
Congenitally Corrected Transposition Of The Great Arteries |
|
Pulmonary artery atresia, Cyanosis |
ORPHA:216694 |
Pmm2-Cdg |
|
Elevated hepatic transaminase, Thin upper lip vermilion, Respiratory distress, Abnormal subcutane... |
ORPHA:79318 |
Spondyloepimetaphyseal Dysplasia, X-Linked |
|
Hypoplasia of the maxilla |
OMIM:300106 |