Pulmonary Hypoplasia, Primary |
|
Neonatal death, Pulmonary hypoplasia |
OMIM:265430 |
Renal Hypodysplasia/Aplasia 4 |
|
Respiratory failure, Pulmonary hypoplasia |
OMIM:619887 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4B |
|
Neonatal death, Apnea, Pulmonary hypoplasia |
OMIM:615228 |
Renal Hypodysplasia/Aplasia 2 |
|
Pulmonary hypoplasia |
OMIM:615721 |
Larsen-Like Syndrome, Lethal Type |
|
Tracheomalacia, Neonatal death, Pulmonary hypoplasia, Respiratory insufficiency |
OMIM:245650 |
Interstitial Pneumonitis, Desquamative, Familial |
|
Respiratory distress, Cyanosis, Type II pneumocyte hypertrophy, Desquamative interstitial pneumon... |
OMIM:263000 |
Surfactant Metabolism Dysfunction, Pulmonary, 1 |
|
Death in infancy, Neonatal respiratory distress, Cyanosis, Apnea, Dyspnea, Desquamative interstit... |
OMIM:265120 |
Combined Oxidative Phosphorylation Deficiency 8 |
|
Neonatal death, Death in infancy, Pulmonary hypoplasia, Death in childhood |
OMIM:614096 |
Surfactant Metabolism Dysfunction, Pulmonary, 3 |
|
Respiratory distress, Crazy paving pattern, Apnea, Nodular pattern on pulmonary HRCT, Tachypnea, ... |
OMIM:610921 |
Mitochondrial Complex I Deficiency, Nuclear Type 35 |
|
Neonatal death, Pulmonary arterial hypertension, Neonatal respiratory distress, Pulmonary hypoplasia |
OMIM:619003 |
Congenital Diaphragmatic Hernia |
|
Hypoxemia, Pulmonary hypoplasia, Respiratory distress |
ORPHA:2140 |
Asbestos Intoxication |
|
Reduced vital capacity, Cyanosis, Lung adenocarcinoma, Reduced forced vital capacity, Atelectasis... |
ORPHA:2302 |
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome |
|
Acrocyanosis |
ORPHA:86918 |
Pulmonary Alveolar Proteinosis, Acquired |
|
Recurrent respiratory infections, Cyanosis, Lung abscess, Pneumonia, Dyspnea, Intraalveolar phosp... |
OMIM:610910 |
Sulfhemoglobinemia, Congenital |
|
Cyanosis |
OMIM:185460 |
Venular Insufficiency, Systemic |
|
Cyanosis |
OMIM:192700 |
Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphism |
|
Pulmonary hypoplasia |
OMIM:613124 |
Bullous Dystrophy, Hereditary Macular Type |
|
Acrocyanosis, Death in childhood |
OMIM:302000 |
Surfactant Metabolism Dysfunction, Pulmonary, 2 |
|
Respiratory distress, Reduced forced vital capacity, Tachypnea, Cough, Decreased DLCO, Bronchiect... |
OMIM:610913 |
Microphthalmia, Syndromic 12 |
|
Neonatal death, Pulmonary hypoplasia |
OMIM:615524 |
Primary Pulmonary Hypoplasia |
|
Recurrent respiratory infections, Neonatal respiratory distress, Cyanosis, Apnea, Asthma, Pneumot... |
ORPHA:2257 |
Methemoglobinemia, Beta Type |
|
Cyanosis |
OMIM:617971 |
Methemoglobinemia, Alpha Type |
|
Cyanosis |
OMIM:617973 |
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome |
|
Abnormal lung lobation, Pulmonary hypoplasia |
ORPHA:2631 |
Infant Acute Respiratory Distress Syndrome |
|
Cyanosis, Pneumonia, Respiratory tract infection, Atelectasis, Nasal flaring, Tachypnea, Hypoxemi... |
ORPHA:70587 |
Lethal Congenital Contracture Syndrome 11 |
|
Pulmonary hypoplasia |
OMIM:617194 |
Laryngotracheoesophageal Cleft |
|
Recurrent respiratory infections, Neonatal respiratory distress, Cyanosis, Dyspnea, Stridor, Coug... |
ORPHA:2004 |
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome |
|
Neonatal death, Bilateral lung agenesis, Respiratory insufficiency |
OMIM:601612 |
Nphp3-Related Meckel-Like Syndrome |
|
Pulmonary hypoplasia |
ORPHA:3032 |
High Altitude Pulmonary Edema |
|
Orthopnea, Cyanosis, Crackles, Dyspnea, Tachypnea, Hypoxemia, Cough, Pulmonary edema |
ORPHA:330012 |
Cryptogenic Organizing Pneumonia |
|
Respiratory distress, Bronchial breath sound, Cyanosis, Crackles, Nonproductive cough, Dyspnea, P... |
ORPHA:1302 |
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities |
|
Pulmonary hypoplasia |
OMIM:616531 |
Acute Interstitial Pneumonia |
|
Cyanosis, Peribronchovascular interstitial thickening, Nodular pattern on pulmonary HRCT, Crackle... |
ORPHA:79126 |
Lethal Congenital Contracture Syndrome 1 |
|
Neonatal death, Pulmonary hypoplasia |
OMIM:253310 |
Seizures, Benign Familial Infantile, 3 |
|
Cyanosis, Apnea |
OMIM:607745 |
Renal Tubular Dysgenesis |
|
Pulmonary hypoplasia |
ORPHA:3033 |
Spondylospinal Thoracic Dysostosis |
|
Pulmonary hypoplasia |
OMIM:601809 |
Phosphoserine Aminotransferase Deficiency |
|
Death in infancy, Cyanotic episode, Apnea |
OMIM:610992 |
Perching Syndrome |
|
Respiratory distress, Cyanosis |
OMIM:617055 |
Tracheal Agenesis |
|
Aplasia/Hypoplasia of the lungs, Respiratory insufficiency |
ORPHA:3346 |
Seizures, Benign Familial Infantile, 1 |
|
Cyanosis, Apnea |
OMIM:601764 |
Congenital Pulmonary Lymphangiectasia |
|
Respiratory distress, Cyanosis, Chronic pulmonary obstruction, Cough, Pulmonary arterial hyperten... |
ORPHA:2414 |
Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect |
|
Stillbirth, Pulmonary hypoplasia |
OMIM:617468 |
Spinal Muscular Atrophy With Congenital Bone Fractures 2 |
|
Neonatal respiratory distress, Pulmonary hypoplasia, Respiratory failure |
OMIM:616867 |
Atelosteogenesis, Type Ii |
|
Death in infancy, Stillbirth, Pulmonary hypoplasia, Respiratory insufficiency |
OMIM:256050 |
Cortical Dysplasia, Complex, With Other Brain Malformations 9 |
|
Pulmonary hypoplasia |
OMIM:618174 |
Laryngotracheal Angioma |
|
Respiratory distress, Cyanosis, Intercostal retractions, Apnea, Wheezing, Stridor, Cough |
ORPHA:137935 |
Tricuspid Atresia |
|
Pulmonary artery atresia, Cyanosis |
ORPHA:1209 |
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome |
|
Pulmonary hypoplasia |
ORPHA:2141 |
Bronchopulmonary Dysplasia |
|
Respiratory distress, Central apnea, Respiratory failure requiring assisted ventilation, Cough, A... |
ORPHA:70589 |
Coenzyme Q10 Deficiency, Primary, 8 |
|
Respiratory distress, Pulmonary hypoplasia |
OMIM:616733 |
Pulmonary Capillary Hemangiomatosis |
|
Cyanosis, Pulmonary edema, Diffuse alveolar hemorrhage, Pulmonary capillary hemangiomatosis, Dysp... |
ORPHA:199241 |
Neuralgic Amyotrophy |
|
Acrocyanosis, Respiratory insufficiency |
ORPHA:2901 |
Autoimmune Pulmonary Alveolar Proteinosis |
|
Cyanosis, Crazy paving pattern, Crackles, Dyspnea, Intraalveolar phospholipid accumulation, Hypox... |
ORPHA:747 |
Choanal Atresia |
|
Respiratory distress, Recurrent respiratory infections, Cyanosis, Upper airway obstruction, Trach... |
ORPHA:137914 |
Congenital Myopathy 1B, Autosomal Recessive |
|
Recurrent respiratory infections, Pulmonary hypoplasia, Respiratory insufficiency |
OMIM:255320 |
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome |
|
Respiratory distress, Cyanosis |
ORPHA:91130 |
Achondrogenesis Type 2 |
|
Pulmonary hypoplasia, Cardiorespiratory arrest |
ORPHA:93296 |
Cyanosis, Transient Neonatal |
|
Jaundice, Cyanosis |
OMIM:613977 |
Congenital Tracheomalacia |
|
Apnea, Tracheobronchomalacia, Cough, Emphysema, Neonatal respiratory distress, Intercostal retrac... |
ORPHA:95430 |
Renal Tubular Dysgenesis |
|
Pulmonary hypoplasia, Respiratory insufficiency |
OMIM:267430 |
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly |
|
Neonatal death, Stillbirth, Pulmonary hypoplasia |
OMIM:236500 |
Pericardial And Diaphragmatic Defect |
|
Hypoxemia, Neonatal respiratory distress, Pulmonary hypoplasia, Pulmonary sequestration |
ORPHA:2847 |
Pallister-Hall-Like Syndrome |
|
Death in infancy, Pulmonary hypoplasia |
OMIM:241800 |
Breath-Holding Spells |
|
Cyanosis |
OMIM:607578 |
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull |
|
Pulmonary hypoplasia |
OMIM:601163 |
Chronic Pneumonitis Of Infancy |
|
Respiratory distress, Cyanosis, Intercostal retractions, Reduced forced vital capacity, Tachypnea... |
ORPHA:91359 |
Cryofibrinogenemia, Familial Primary |
|
Acrocyanosis |
OMIM:123540 |
Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Neonatal death, Pulmonary hypoplasia, Respiratory insufficiency |
OMIM:224410 |
Nephronophthisis 2 |
|
Respiratory failure, Pulmonary hypoplasia, Respiratory insufficiency |
OMIM:602088 |
Obesity-Hypoventilation Syndrome |
|
Hypoventilation, Cyanosis |
OMIM:257500 |
Classic Glucose Transporter Type 1 Deficiency Syndrome |
|
Central apnea, Cyanosis |
ORPHA:71277 |
Odontochondrodysplasia 1 |
|
Respiratory distress, Recurrent respiratory infections, Pulmonary hypoplasia, Death in infancy |
OMIM:184260 |
Cleft Larynx, Posterior |
|
Aspiration, Cyanosis |
OMIM:215800 |
Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Stillbirth, Abnormal lung lobation, Pulmonary hypoplasia |
OMIM:615415 |
Thanatophoric Dysplasia |
|
Pulmonary hypoplasia, Respiratory insufficiency |
ORPHA:2655 |
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome |
|
Aplasia/Hypoplasia of the lungs, Recurrent respiratory infections |
ORPHA:1548 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Respiratory distress, Jaundice, Pulmonary hypoplasia, Neonatal death |
OMIM:231680 |
Lethal Congenital Contracture Syndrome Type 1 |
|
Pulmonary hypoplasia |
ORPHA:1486 |
Laryngeal Abductor Paralysis |
|
Stridor, Cyanosis |
OMIM:150260 |
Thanatophoric Dysplasia, Type I |
|
Neonatal death, Neonatal respiratory distress, Pulmonary hypoplasia |
OMIM:187600 |
Agnathia-Otocephaly Complex |
|
Respiratory distress, Pulmonary hypoplasia, Tracheomalacia |
OMIM:202650 |
Tonne-Kalscheuer Syndrome |
|
Pulmonary hypoplasia |
OMIM:300978 |
Benign Familial Infantile Epilepsy |
|
Cyanosis, Apnea |
ORPHA:306 |
Gillessen-Kaesbach-Nishimura Syndrome |
|
Abnormal lung lobation, Pulmonary hypoplasia |
OMIM:263210 |
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Respiratory distress, Respiratory failure, Pulmonary hypoplasia |
OMIM:617895 |
Pulmonary Arteriovenous Malformation |
|
Cyanosis, Epistaxis, Dyspnea, Telangiectasia, Hypoxemia, Pleural empyema, Pulmonary hemorrhage, C... |
ORPHA:2038 |
Tetrasomy 5P |
|
Respiratory distress, Recurrent respiratory infections, Cyanosis, Pulmonary hypoplasia, Pulmonary... |
ORPHA:3309 |
Congenital Heart Block |
|
Pleural effusion, Cyanosis, Crackles |
ORPHA:60041 |
Pulmonary Alveolar Microlithiasis |
|
Cyanosis, Bronchitis, Respiratory tract infection, Nonproductive cough, Pleural thickening, Pneum... |
ORPHA:60025 |
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta |
|
Recurrent respiratory infections, Cyanosis, Aortopulmonary window, Pulmonary hypoplasia, Pulmonar... |
ORPHA:99050 |
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies |
|
Pulmonary artery atresia, Recurrent respiratory infections, Pulmonary hypoplasia |
OMIM:618316 |
Serkal Syndrome |
|
Pulmonary hypoplasia |
ORPHA:139466 |
Maternal Uniparental Disomy Of Chromosome 2 |
|
Neonatal respiratory distress, Miscarriage, Respiratory infections in early life, Pulmonary hypop... |
ORPHA:96179 |
Fetal Akinesia Deformation Sequence |
|
Pulmonary hypoplasia, Respiratory insufficiency |
ORPHA:994 |
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type |
|
Aplasia/Hypoplasia of the lungs |
ORPHA:2204 |
Microphthalmia, Syndromic 9 |
|
Agenesis of pulmonary vessels, Alveolar capillary dysplasia, Respiratory insufficiency, Bilateral... |
OMIM:601186 |
Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Neonatal death, Pulmonary hypoplasia |
OMIM:314390 |
Meacham Syndrome |
|
Death in infancy, Partial anomalous pulmonary venous return, Cardiac total anomalous pulmonary ve... |
OMIM:608978 |
Scimitar Syndrome |
|
Respiratory distress, Recurrent respiratory infections, Abnormal lung morphology, Partial anomalo... |
ORPHA:185 |
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs |
|
Bilateral lung agenesis, Pulmonary artery stenosis, Congenital pulmonary airway malformation, Pul... |
OMIM:611812 |
Lethal Hemolytic Anemia-Genital Anomalies Syndrome |
|
Aplasia/Hypoplasia of the lungs, Respiratory insufficiency |
ORPHA:1046 |
Alg3-Cdg |
|
Pulmonary hypoplasia |
ORPHA:79321 |
Postsynaptic Congenital Myasthenic Syndromes |
|
Orthopnea, Reduced vital capacity, Cyanosis, Restrictive ventilatory defect, Respiratory failure,... |
ORPHA:98913 |
Waardenburg Syndrome Type 3 |
|
Tracheomalacia, Atelectasis, Acrocyanosis |
ORPHA:896 |
Severe Congenital Nemaline Myopathy |
|
Respiratory failure, Pulmonary hypoplasia |
ORPHA:171430 |
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type |
|
Respiratory distress, Stillbirth, Pulmonary hypoplasia |
OMIM:151210 |
Renal Hypodysplasia/Aplasia 1 |
|
Pulmonary hypoplasia |
OMIM:191830 |
Hereditary Methemoglobinemia |
|
Cyanosis, Exertional dyspnea |
ORPHA:621 |
Gaucher Disease, Perinatal Lethal |
|
Respiratory distress, Apnea, Pulmonary hypoplasia, Neonatal death, Petechiae, Purpura |
OMIM:608013 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Pleural effusion, Pulmonary hypoplasia |
OMIM:616897 |
Meckel Syndrome 14 |
|
Pneumothorax, Cyanosis, Pulmonary hypoplasia, Cardiorespiratory arrest |
OMIM:619879 |
Lymphatic Malformation 12 |
|
Neonatal respiratory distress, Pleural thickening, Death in adolescence, Neonatal death, Recurren... |
OMIM:620014 |
Spinal Muscular Atrophy With Congenital Bone Fractures 1 |
|
Neonatal respiratory distress, Pulmonary hypoplasia |
OMIM:616866 |
Absence Of The Pulmonary Artery |
|
Recurrent respiratory infections, Orthopnea, Cyanosis, Nonproductive cough, Dyspnea, Recurrent pn... |
ORPHA:980 |
Mitochondrial Phosphate Carrier Deficiency |
|
Cyanosis, Respiratory insufficiency |
OMIM:610773 |
1Q41Q42 Microdeletion Syndrome |
|
Pulmonary hypoplasia |
ORPHA:250999 |
Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Miscarriage, Pulmonary hypoplasia, Respiratory insufficiency |
ORPHA:1865 |
Multiple Pterygium Syndrome, X-Linked |
|
Pulmonary hypoplasia |
OMIM:312150 |
Acquired Methemoglobinemia |
|
Hypoxemia, Dyspnea, Cyanosis, Respiratory distress |
ORPHA:464453 |
Neurodegeneration And Seizures Due To Copper Transport Defect |
|
Respiratory distress, Pneumothorax, Pulmonary hypoplasia |
OMIM:620306 |
Hypoadrenocorticism, Familial |
|
Cyanosis, Apnea |
OMIM:240200 |
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome |
|
Pulmonary hypoplasia |
ORPHA:3035 |
Platyspondylic Dysplasia, Torrance Type |
|
Pulmonary hypoplasia |
ORPHA:85166 |
Matthew-Wood Syndrome |
|
Abnormal lung morphology, Pulmonary hypoplasia |
ORPHA:2470 |
Diaphanospondylodysostosis |
|
Respiratory distress, Tracheomalacia, Pulmonary hypoplasia, Respiratory insufficiency |
OMIM:608022 |
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
|
Cyanosis, Exertional dyspnea |
OMIM:250800 |
Buerger Disease |
|
Acrocyanosis |
ORPHA:36258 |
Benign Familial Neonatal Epilepsy |
|
Circumoral cyanosis, Apnea |
ORPHA:1949 |
Cutis Laxa, Autosomal Recessive, Type Ic |
|
Death in infancy, Progeroid facial appearance, Atelectasis, Recurrent pneumonia, Pulmonary hypopl... |
OMIM:613177 |
Microcephaly-Micromelia Syndrome |
|
Neonatal death, Pulmonary hypoplasia |
OMIM:251230 |
Multiple Pterygium Syndrome, Lethal Type |
|
Pulmonary hypoplasia |
OMIM:253290 |
Peripheral Motor Neuropathy-Dysautonomia Syndrome |
|
Acrocyanosis |
ORPHA:2400 |
Congenital Tricuspid Valve Dysplasia |
|
Respiratory failure requiring assisted ventilation, Cyanosis, Tachypnea, Anomalous pulmonary veno... |
ORPHA:555874 |
Kagami-Ogata Syndrome |
|
Pulmonary arterial hypertension, Pulmonary hypoplasia |
OMIM:608149 |
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9 |
|
Respiratory distress, Death in infancy, Neonatal respiratory distress, Cyanosis, Apnea, Hypopnea,... |
OMIM:618426 |
Jeune Syndrome |
|
Aplasia/Hypoplasia of the lungs, Respiratory insufficiency |
ORPHA:474 |
Hereditary Bullous Dystrophy, Macular Type |
|
Acrocyanosis, Pneumonia |
ORPHA:1867 |
Achondroplasia |
|
Respiratory distress, Death in infancy, Upper airway obstruction, Pulmonary hypoplasia |
OMIM:100800 |
Esophageal Atresia |
|
Respiratory distress, Recurrent respiratory infections, Cyanosis, Bronchitis, Episodic respirator... |
ORPHA:1199 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Hypoxemia, Cyanosis, Tachypnea, Anomalous pulmonary venous return |
ORPHA:860 |
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Recurrent respiratory infections, Death in infancy, Jaundice, Respiratory insufficiency, Pulmonar... |
OMIM:208500 |
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
|
Death in infancy, Abnormal lung lobation, Respiratory insufficiency, Anomalous pulmonary venous r... |
ORPHA:1120 |
Autosomal Recessive Amelia |
|
Aplasia/Hypoplasia of the lungs |
ORPHA:1027 |
Marden-Walker Syndrome |
|
Pulmonary hypoplasia |
OMIM:248700 |
Combined Oxidative Phosphorylation Defect Type 23 |
|
Stridor, Paroxysmal dyspnea, Respiratory failure, Cyanosis |
ORPHA:444013 |
Congenital Tracheal Stenosis |
|
Respiratory distress, Cyanosis, Neonatal asphyxia, Abnormal lung morphology, Dyspnea, Abnormal lu... |
ORPHA:141127 |
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Neonatal death, Pulmonary hypoplasia |
OMIM:263200 |
Encephalopathy, Ethylmalonic |
|
Death in infancy, Acrocyanosis, Petechiae |
OMIM:602473 |
Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome |
|
Pulmonary hypoplasia |
ORPHA:86822 |
Teebi Hypertelorism Syndrome 1 |
|
Pulmonary hypoplasia |
OMIM:145420 |
Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Death in childhood, Neonatal respiratory distress, Pulmonary hypoplasia, Prolonged neonatal jaundice |
OMIM:214100 |
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 |
Meckel Syndrome, Type 6 |
|
Bilobed right lung, Pulmonary hypoplasia |
OMIM:612284 |
Acro-Renal-Mandibular Syndrome |
|
Abnormal lung lobation, Pulmonary hypoplasia |
ORPHA:958 |
Chromosome 1Q41-Q42 Deletion Syndrome |
|
Pulmonary hypoplasia |
OMIM:612530 |
Stuve-Wiedemann Syndrome 1 |
|
Death in infancy, Apnea, Pulmonary arterial medial hypertrophy, Respiratory insufficiency, Pulmon... |
OMIM:601559 |
Double Outlet Right Ventricle |
|
Pulmonary artery atresia, Cyanosis, Tachypnea |
ORPHA:3426 |
Restrictive Dermopathy 2 |
|
Respiratory distress, Cyanosis |
OMIM:619793 |
Czeizel-Losonci Syndrome |
|
Pulmonary hypoplasia |
ORPHA:2437 |
Caudal Regression Syndrome |
|
Pulmonary hypoplasia |
ORPHA:3027 |
Congenital Myopathy 17 |
|
Respiratory tract infection, Pulmonary hypoplasia, Respiratory insufficiency |
OMIM:618975 |
Truncus Arteriosus |
|
Cyanosis, Anomalous origin of one pulmonary artery from ascending aorta, Pulmonary artery stenosi... |
ORPHA:3384 |
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
Pulmonary hypoplasia |
OMIM:614091 |
Genitopatellar Syndrome |
|
Apnea, Pulmonary hypoplasia |
ORPHA:85201 |
Eosinophilic Granulomatosis With Polyangiitis |
|
Recurrent intrapulmonary hemorrhage, Cutis marmorata, Sinusitis, Abnormal pleura morphology, Asth... |
ORPHA:183 |
Achondrogenesis, Type Ia |
|
Stillbirth, Pulmonary hypoplasia |
OMIM:200600 |
Gastrointestinal Defects And Immunodeficiency Syndrome 2 |
|
Pulmonary hypoplasia, Interstitial emphysema, Bronchiectasis |
OMIM:619708 |
Achondrogenesis |
|
Aplasia/Hypoplasia of the lungs |
ORPHA:932 |
Boomerang Dysplasia |
|
Aplasia/Hypoplasia of the lungs |
ORPHA:1263 |
Short-Rib Thoracic Dysplasia 12 |
|
Neonatal death, Atelectasis, Pulmonary hypoplasia, Respiratory insufficiency |
OMIM:269860 |
Atrial Septal Defect, Ostium Primum Type |
|
Recurrent respiratory infections, Cyanosis, Dyspnea, Tachypnea, Abnormal respiratory system physi... |
ORPHA:99106 |
Atrial Septal Defect, Coronary Sinus Type |
|
Cyanosis, Pneumonia, Increased pulmonary vascular resistance, Dyspnea, Anomalous pulmonary venous... |
ORPHA:99104 |
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Stillbirth, Pulmonary hypoplasia, Respiratory insufficiency |
OMIM:616300 |
Atelosteogenesis Type I |
|
Pulmonary hypoplasia |
ORPHA:1190 |
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Respiratory distress, Repeated pneumothoraces, Atelectasis, Respiratory insufficiency, Restrictiv... |
ORPHA:536467 |
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form |
|
Cyanotic episode |
ORPHA:284417 |
Acrocephalopolydactylous Dysplasia |
|
Pulmonary hypoplasia, Extrapulmonary sequestrum |
OMIM:200995 |
Complete Atrioventricular Septal Defect |
|
Cyanosis, Intercostal retractions, Crackles, Wheezing, Tachypnea, Recurrent pneumonia, Elevated p... |
ORPHA:1329 |
Distal Triplication 15Q |
|
Pulmonary hypoplasia |
ORPHA:314588 |
Tarp Syndrome |
|
Cyanosis, Apnea, Pulmonary hypoplasia |
ORPHA:2886 |
Chiari Malformation Type Ii |
|
Cyanosis, Inspiratory stridor |
OMIM:207950 |
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome |
|
Aplasia/Hypoplasia of the lungs, Abnormal pleura morphology |
ORPHA:2570 |
Achondrogenesis Type 1B |
|
Aplasia/Hypoplasia of the lungs |
ORPHA:93298 |
Lethal Congenital Contracture Syndrome 10 |
|
Pulmonary hypoplasia |
OMIM:617022 |
Chromosome 13Q33-Q34 Deletion Syndrome |
|
Pulmonary hypoplasia |
OMIM:619148 |
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly |
|
Pulmonary hypoplasia |
OMIM:615503 |
Raine Syndrome |
|
Neonatal death, Death in infancy, Pulmonary hypoplasia |
OMIM:259775 |
Metatropic Dysplasia |
|
Aplasia/Hypoplasia of the lungs |
ORPHA:2635 |
Autosomal Recessive Multiple Pterygium Syndrome |
|
Neonatal respiratory distress, Pulmonary hypoplasia |
ORPHA:2990 |
Congenital Myopathy 22B, Severe Fetal |
|
Respiratory distress, Pleural effusion, Pulmonary hypoplasia |
OMIM:620369 |
Mosaic Trisomy 1 |
|
Pulmonary artery atresia, Pulmonary hypoplasia |
ORPHA:1692 |
Congenital Fibrinogen Deficiency |
|
Cyanosis, Bruising susceptibility, Subcutaneous hemorrhage |
ORPHA:335 |
Achondrogenesis Type 1A |
|
Aplasia/Hypoplasia of the lungs |
ORPHA:93299 |
Heterotaxy, Visceral, 7, Autosomal |
|
Pulmonary artery atresia, Pulmonary artery hypoplasia, Cyanosis, Total anomalous pulmonary venous... |
OMIM:616749 |
Oligomeganephronia |
|
Pulmonary venous occlusion, Pulmonary hypoplasia |
ORPHA:2260 |
Craniosynostosis, Herrmann-Opitz Type |
|
Aplasia/Hypoplasia of the lungs |
ORPHA:2145 |
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects |
|
Stillbirth, Erythema, Pulmonary hypoplasia |
OMIM:308050 |
Hsd10 Disease, Infantile Type |
|
Cyanosis |
ORPHA:391428 |
Goodpasture Syndrome |
|
Cyanosis, Nodular pattern on pulmonary HRCT, Crackles, Increased DLCO, Tachypnea, Restrictive ven... |
OMIM:233450 |
Structural Heart Defects And Renal Anomalies Syndrome |
|
Partial anomalous pulmonary venous return, Cyanosis, Death in infancy |
OMIM:617478 |
Renal Agenesis, Bilateral |
|
Pulmonary hypoplasia |
ORPHA:1848 |
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic |
|
Cyanosis, Apnea |
OMIM:261680 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2 |
|
Respiratory failure requiring assisted ventilation, Elevated pulmonary artery pressure, Pulmonary... |
OMIM:619351 |
Joubert Syndrome 21 |
|
Apnea, Dyspnea, Respiratory failure, Pulmonary hypoplasia, Chronic sinusitis |
OMIM:615636 |
Pagod Syndrome |
|
Death in infancy, Pulmonary artery hypoplasia, Abnormality of the pulmonary artery, Pulmonary hyp... |
ORPHA:991 |
Cardiac Valvular Dysplasia 2 |
|
Central cyanosis, Pulmonary artery dilatation |
OMIM:620067 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Neonatal death, Pulmonary hypoplasia |
OMIM:208540 |
Sepsis In Premature Infants |
|
Cyanosis, Abnormal mucociliary clearance, Dyspnea, Jaundice, Nasal flaring, Abnormal respiratory ... |
ORPHA:90051 |
Renal Agenesis |
|
Pulmonary hypoplasia |
ORPHA:411709 |
Kallmann Syndrome-Heart Disease Syndrome |
|
Pulmonary artery hypoplasia, Cyanosis |
ORPHA:2326 |
Isolated Right Ventricular Hypoplasia |
|
Hypoxemia, Dyspnea, Cyanosis |
ORPHA:439 |
Thanatophoric Dysplasia Type 2 |
|
Aplasia/Hypoplasia of the lungs, Respiratory insufficiency |
ORPHA:93274 |
Atelosteogenesis Type Ii |
|
Tracheobronchomalacia, Pulmonary hypoplasia |
ORPHA:56304 |
Greenberg Dysplasia |
|
Neonatal death, Stillbirth, Abnormal lung lobation, Pulmonary hypoplasia |
OMIM:215140 |
Atrial Septal Defect, Ostium Secundum Type |
|
Orthopnea, Cyanosis, Pneumonia, Breathing dysregulation, Increased pulmonary vascular resistance,... |
ORPHA:99103 |
Tetraploidy |
|
Aplasia/Hypoplasia of the lungs |
ORPHA:3305 |
Thoracoabdominal Syndrome |
|
Pulmonary hypoplasia |
OMIM:313850 |
Pentalogy Of Cantrell |
|
Pulmonary hypoplasia |
ORPHA:1335 |
Dravet Syndrome |
|
Cyanotic episode |
ORPHA:33069 |
Diaphragmatic Hernia 4, With Cardiovascular Defects |
|
Neonatal respiratory distress, Aortopulmonary window, Pulmonary artery hypoplasia, Pulmonary hypo... |
OMIM:620025 |
Ethylmalonic Encephalopathy |
|
Acrocyanosis, Petechiae |
ORPHA:51188 |
Ethylene Glycol Poisoning |
|
Cyanosis, Tachypnea, Episodic respiratory distress, Abnormal pattern of respiration, Pulmonary edema |
ORPHA:31826 |
Fryns Syndrome |
|
Pulmonary hypoplasia |
ORPHA:2059 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1 |
|
Pulmonary hypoplasia |
OMIM:614080 |
Fontaine Progeroid Syndrome |
|
Reduced subcutaneous adipose tissue, Death in infancy, Prominent superficial veins, Prematurely a... |
OMIM:612289 |
Telangiectasia, Hereditary Hemorrhagic, Type 1 |
|
Conjunctival telangiectasia, Tongue telangiectasia, Palate telangiectasia, Pulmonary arteriovenou... |
OMIM:187300 |
Double Outlet Left Ventricle |
|
Pulmonary artery stenosis, Cyanosis, Tachypnea |
ORPHA:3427 |
Methemoglobinemia And Ambiguous Genitalia |
|
Cyanosis |
OMIM:250790 |
Congenital Total Pulmonary Venous Return Anomaly |
|
Respiratory distress, Recurrent respiratory infections, Respiratory failure requiring assisted ve... |
ORPHA:99125 |
Telangiectasia, Hereditary Hemorrhagic, Type 4 |
|
Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Cyanosis, Pulmonary arteriovenous ... |
OMIM:610655 |
Ogden Syndrome |
|
Prematurely aged appearance, Apnea, Facial wrinkling, Jaundice, Pulmonary artery stenosis, Pulmon... |
OMIM:300855 |
Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Neonatal death, Pulmonary hypoplasia |
OMIM:617925 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Cyanosis, Sudden episodic apnea, Respiratory insufficiency |
ORPHA:159 |
Neu-Laxova Syndrome |
|
Pulmonary hypoplasia |
ORPHA:2671 |
Verloove Vanhorick-Brubakk Syndrome |
|
Aplasia/Hypoplasia of the lungs |
ORPHA:3429 |
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome |
|
Acrocyanosis |
OMIM:614407 |
Criss-Cross Heart |
|
Cyanosis, Respiratory insufficiency |
ORPHA:1461 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Respiratory distress, Cyanosis, Apnea, Pleural effusion, Pulmonary edema |
OMIM:261740 |
Multiple Pterygium Syndrome, Escobar Variant |
|
Neonatal respiratory distress, Pulmonary hypoplasia |
OMIM:265000 |
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome |
|
Aplasia/Hypoplasia of the lungs, Abnormal lung lobation |
ORPHA:2063 |
Alg9-Cdg |
|
Asthma, Abnormal lung lobation, Pulmonary hypoplasia |
ORPHA:79328 |
Spondylodysplastic Ehlers-Danlos Syndrome |
|
Prominent scalp veins, Pulmonary hypoplasia, Respiratory insufficiency, Restrictive ventilatory d... |
ORPHA:536471 |
Fallot Complex-Intellectual Disability-Growth Delay Syndrome |
|
Cyanosis |
ORPHA:3304 |
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures |
|
Cyanosis, Apnea |
OMIM:619580 |
Otopalatodigital Syndrome Type 2 |
|
Pulmonary hypoplasia |
ORPHA:90652 |
Thanatophoric Dysplasia Type 1 |
|
Aplasia/Hypoplasia of the lungs, Excessive wrinkled skin, Respiratory insufficiency |
ORPHA:1860 |
Mosaic Trisomy 16 |
|
Abnormal lung morphology, Pulmonary hypoplasia |
ORPHA:1708 |
Vacterl With Hydrocephalus |
|
Pulmonary hypoplasia |
ORPHA:3412 |
Unilateral Polymicrogyria |
|
Cyanosis, Apnea, Epistaxis, Pulmonary arteriovenous malformation |
ORPHA:268943 |
Hyperimmunoglobulinemia D With Periodic Fever |
|
Urticaria, Erythema, Acrocyanosis, Purpura |
ORPHA:343 |
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
|
Pulmonary hypoplasia |
OMIM:271520 |
Short-Rib Thoracic Dysplasia 14 With Polydactyly |
|
Pulmonary hypoplasia |
OMIM:616546 |
Poems Syndrome |
|
Respiratory insufficiency due to muscle weakness, Restrictive ventilatory defect, Pulmonary arter... |
ORPHA:2905 |
Fryns Syndrome |
|
Chylothorax, Stillbirth, Pulmonary hypoplasia |
OMIM:229850 |
Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
|
Recurrent infections due to aspiration, Decreased sensitivity to hypoxemia, Acrocyanosis |
OMIM:223900 |
Autosomal Recessive Polycystic Kidney Disease |
|
Hypoventilation, Spontaneous pneumothorax, Jaundice, Recurrent pneumonia, Respiratory failure, Pu... |
ORPHA:731 |
Lethal Congenital Contracture Syndrome 9 |
|
Pulmonary hypoplasia, Cardiorespiratory arrest |
OMIM:616503 |
Prune Belly Syndrome |
|
Aplasia/Hypoplasia of the lungs, Recurrent respiratory infections |
ORPHA:2970 |
Smith-Lemli-Opitz Syndrome |
|
Abnormal lung lobation, Cutaneous photosensitivity, Cutis marmorata, Pulmonary hypoplasia |
ORPHA:818 |
Aicardi-Goutieres Syndrome 1 |
|
Erythema, Prolonged neonatal jaundice, Acrocyanosis, Petechiae, Purpura |
OMIM:225750 |
Blomstrand Lethal Chondrodysplasia |
|
Pulmonary hypoplasia |
ORPHA:50945 |
Eosinophilic Fasciitis |
|
Acrocyanosis |
ORPHA:3165 |
Acquired Purpura Fulminans |
|
Acrocyanosis, Macular purpura |
ORPHA:49566 |
Histiocytoid Cardiomyopathy |
|
Cough, Cyanosis, Tachypnea, Pulmonary edema |
ORPHA:137675 |
Familial Dysautonomia |
|
Recurrent respiratory infections, Acrocyanosis, Abnormal pleura morphology |
ORPHA:1764 |
Telangiectasia, Hereditary Hemorrhagic, Type 2 |
|
Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Cyanosis, Nail bed telangiectasia,... |
OMIM:600376 |
Restrictive Dermopathy 1 |
|
Neonatal death, Prominent superficial blood vessels, Stillbirth, Pulmonary hypoplasia |
OMIM:275210 |
Dermatomyositis |
|
Recurrent respiratory infections, Telangiectasia of the skin, Erythema, Abnormal pulmonary inters... |
ORPHA:221 |
Meier-Gorlin Syndrome 7 |
|
Pulmonary hypoplasia |
OMIM:617063 |
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Pulmonary hypoplasia |
OMIM:263520 |
Myasthenic Syndrome, Congenital, 21, Presynaptic |
|
Cyanosis, Apnea, Respiratory insufficiency |
OMIM:617239 |
Tetraamelia Syndrome 1 |
|
Peripheral pulmonary vessel aplasia, Pulmonary hypoplasia |
OMIM:273395 |
Oculoauriculovertebral Spectrum With Radial Defects |
|
Aplasia/Hypoplasia of the lungs |
ORPHA:2549 |
Neu-Laxova Syndrome 1 |
|
Neonatal death, Stillbirth, Pulmonary hypoplasia, Yellow subcutaneous tissue covered by thin, sca... |
OMIM:256520 |
Acrorenal-Mandibular Syndrome |
|
Pulmonary hypoplasia |
OMIM:200980 |
Mckusick-Kaufman Syndrome |
|
Pulmonary hypoplasia |
OMIM:236700 |
Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome |
|
Pulmonary hypoplasia |
ORPHA:1112 |
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome |
|
Cyanosis |
ORPHA:488627 |
Smith-Lemli-Opitz Syndrome |
|
Abnormal lung lobation, Pulmonary hypoplasia, Severe photosensitivity, Death in infancy |
OMIM:270400 |
Orofaciodigital Syndrome Type 4 |
|
Bilateral lung agenesis, Recurrent respiratory infections, Pulmonary hypoplasia |
ORPHA:2753 |
Fetal Akinesia Deformation Sequence 1 |
|
Stillbirth, Pulmonary hypoplasia |
OMIM:208150 |
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Miscarriage, Pulmonary artery stenosis, Restrictive ventilatory defect, Respiratory failure, Pulm... |
ORPHA:96334 |
Tetraamelia Syndrome 2 |
|
Bilateral lung agenesis, Hypoplastic pulmonary veins |
OMIM:618021 |
Mitochondrial Complex I Deficiency, Nuclear Type 1 |
|
Death in infancy, Cyanosis, Apnea, Respiratory insufficiency, Respiratory failure |
OMIM:252010 |
Holzgreve Syndrome |
|
Aplasia/Hypoplasia of the lungs |
ORPHA:2167 |
Aortic Arch Interruption |
|
Respiratory distress, Cyanosis, Tachypnea, Aortopulmonary window, Exertional dyspnea |
ORPHA:2299 |
Tetraamelia-Multiple Malformations Syndrome |
|
Aplasia/Hypoplasia of the lungs, Abnormal lung lobation |
ORPHA:3301 |
Schinzel-Giedion Syndrome |
|
Respiratory distress, Recurrent pneumonia, Pulmonary hypoplasia |
ORPHA:798 |
Heterotaxy, Visceral, 1, X-Linked |
|
Respiratory distress, Bilateral trilobed lung, Cyanosis, Total anomalous pulmonary venous return |
OMIM:306955 |
Osteogenesis Imperfecta |
|
Neonatal respiratory distress, Bruising susceptibility, Pulmonary hypoplasia |
ORPHA:666 |
Distal Deletion 15Q |
|
Pulmonary hypoplasia |
ORPHA:1596 |
Dpagt1-Cdg |
|
Pulmonary hypoplasia |
ORPHA:86309 |
Cardiac-Urogenital Syndrome |
|
Scimitar anomaly, Partial anomalous pulmonary venous return, Pulmonary hypoplasia, Tracheomalacia |
OMIM:618280 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Respiratory distress, Pulmonary hypoplasia |
ORPHA:83617 |
Meckel Syndrome, Type 1 |
|
Pulmonary hypoplasia |
OMIM:249000 |
Axial Mesodermal Dysplasia Spectrum |
|
Aplasia/Hypoplasia of the lungs |
ORPHA:1834 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Hypoventilation, Cyanosis, Central hypoventilation, Asthma, Recurrent upper respiratory tract inf... |
ORPHA:293987 |
Tetrasomy 9P |
|
Pulmonary arterial hypertension, Jaundice, Pulmonary hypoplasia |
ORPHA:3310 |
Fucosidosis |
|
Acrocyanosis, Vascular skin abnormality |
ORPHA:349 |
Fraser Syndrome |
|
Death in infancy, Abnormal lung lobation, Pulmonary hypoplasia |
ORPHA:2052 |
Myasthenia Gravis |
|
Dyspnea, Acrocyanosis |
ORPHA:589 |
Penile Agenesis |
|
Bilateral lung agenesis, Pulmonary hypoplasia |
ORPHA:49 |
Meacham Syndrome |
|
Aplasia/Hypoplasia of the lungs, Pulmonary sequestration, Abnormal lung lobation, Anomalous pulmo... |
ORPHA:3097 |
Ulbright-Hodes Syndrome |
|
Respiratory distress, Respiratory failure, Pneumothorax, Pulmonary hypoplasia |
ORPHA:3404 |
Fraser Syndrome 1 |
|
Pulmonary hypoplasia |
OMIM:219000 |
Postinfectious Vasculitis |
|
Palpable purpura, Cutis marmorata, Pneumonia, Vasculitis in the skin, Acrocyanosis, Recurrent str... |
ORPHA:48435 |
Eisenmenger Syndrome |
|
Respiratory distress, Cyanosis, Increased pulmonary vascular resistance, Wheezing, Aortopulmonary... |
ORPHA:97214 |
Cardiac Valvular Dysplasia 1 |
|
Pulmonary artery atresia, Cyanosis |
OMIM:212093 |
Restrictive Dermopathy |
|
Pulmonary hypoplasia |
ORPHA:1662 |
Focal Dermal Hypoplasia |
|
Aplasia/Hypoplasia of the lungs, Erythema, Telangiectasia of the skin, Abnormality of the pulmona... |
ORPHA:2092 |
Vacterl/Vater Association |
|
Aplasia/Hypoplasia of the lungs |
ORPHA:887 |
Pitt-Hopkins Syndrome |
|
Acrocyanosis, Abnormal pattern of respiration, Hyperventilation |
ORPHA:2896 |
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type |
|
Pulmonary hypoplasia, Respiratory insufficiency |
ORPHA:93271 |
Hutchinson-Gilford Progeria Syndrome |
|
Prominent superficial blood vessels, Cyanosis, Upper airway obstruction, Pulmonary arterial hyper... |
ORPHA:740 |
Genitopatellar Syndrome |
|
Pulmonary hypoplasia |
OMIM:606170 |
Ellis Van Creveld Syndrome |
|
Aplasia/Hypoplasia of the lungs, Emphysema |
ORPHA:289 |
Hyperoxaluria, Primary, Type I |
|
Acrocyanosis, Cutis marmorata |
OMIM:259900 |
Congenitally Corrected Transposition Of The Great Arteries |
|
Pulmonary artery atresia, Cyanosis |
ORPHA:216694 |
Holoprosencephaly |
|
Aplasia/Hypoplasia of the lungs, Respiratory insufficiency |
ORPHA:2162 |
Primary Hyperoxaluria |
|
Acrocyanosis, Cutis marmorata |
ORPHA:416 |
Pallister-Killian Syndrome |
|
Stillbirth, Apneic episodes in infancy, Pulmonary hypoplasia, Hyperventilation |
OMIM:601803 |
Aicardi-Goutières Syndrome |
|
Acrocyanosis, Cutis marmorata, Prolonged neonatal jaundice |
ORPHA:51 |
Classical Ehlers-Danlos Syndrome |
|
Prematurely aged appearance, Poor wound healing, Ecchymosis, Acrocyanosis, Fragile skin, Bruising... |
ORPHA:287 |
Wolf-Hirschhorn Syndrome |
|
Aplasia/Hypoplasia of the lungs, Recurrent respiratory infections |
ORPHA:280 |
Generalized Arterial Calcification Of Infancy |
|
Respiratory distress, Pulmonary arterial hypertension, Cyanosis |
ORPHA:51608 |
Craniofacial Microsomia 1 |
|
Pulmonary hypoplasia |
OMIM:164210 |
Microphthalmia, Syndromic 1 |
|
Pulmonary hypoplasia |
OMIM:309800 |
Coffin-Lowry Syndrome |
|
Acrocyanosis, Cutis marmorata |
OMIM:303600 |
Hypermobile Ehlers-Danlos Syndrome |
|
Acrocyanosis, Apnea |
ORPHA:285 |