Pulmonary Hypoplasia, Primary |
|
Neonatal death, Pulmonary hypoplasia |
OMIM:265430 |
Ciliary Dyskinesia, Primary, 47, And Lissencephaly |
|
Recurrent respiratory infections, Bronchiectasis, Atelectasis, Agenesis of corpus callosum |
OMIM:619466 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4B |
|
Neonatal death, Pulmonary hypoplasia |
OMIM:615228 |
Xeroderma Pigmentosum, Complementation Group G |
|
Defective DNA repair after ultraviolet radiation damage |
OMIM:278780 |
Combined Oxidative Phosphorylation Deficiency 8 |
|
Neonatal death, Death in childhood, Death in infancy, Pulmonary hypoplasia |
OMIM:614096 |
Renal Hypodysplasia/Aplasia 4 |
|
Pulmonary hypoplasia |
OMIM:619887 |
Emphysema, Hereditary Pulmonary |
|
Emphysema, Chronic bronchitis |
OMIM:130700 |
Renal Hypodysplasia/Aplasia 2 |
|
Pulmonary hypoplasia |
OMIM:615721 |
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome |
|
Emphysema, Respiratory tract infection, Chronic bronchitis, Honeycomb lung, Hypoxemia, Hypersensi... |
ORPHA:79127 |
Bronchopulmonary Dysplasia |
|
Atelectasis, Emphysema, Hyperoxemia, Abnormal lung morphology, Pulmonary sequestration |
ORPHA:70589 |
Surfactant Metabolism Dysfunction, Pulmonary, 3 |
|
Crazy paving pattern, Reticular pattern on pulmonary HRCT, Usual interstitial pneumonia, Intraalv... |
OMIM:610921 |
Cortical Dysplasia, Complex, With Other Brain Malformations 9 |
|
Hydrocephalus, Pulmonary hypoplasia |
OMIM:618174 |
Sarcoidosis, Susceptibility To, 2 |
|
Emphysema, Hypoxemia, Pleural effusion, Pneumothorax, Abnormal pulmonary interstitial morphology,... |
OMIM:612387 |
Idiopathic Bronchiectasis |
|
Emphysema, Respiratory tract infection, Acute infectious pneumonia, Recurrent lower respiratory t... |
ORPHA:60033 |
Mitochondrial Complex I Deficiency, Nuclear Type 35 |
|
Neonatal death, Pulmonary hypoplasia |
OMIM:619003 |
Microphthalmia, Syndromic 12 |
|
Neonatal death, Pulmonary hypoplasia |
OMIM:615524 |
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome |
|
Pulmonary hypoplasia, Abnormal lung lobation |
ORPHA:2631 |
Allergic Bronchopulmonary Aspergillosis |
|
Emphysema, Abnormal eosinophil morphology, Bronchiectasis |
ORPHA:1164 |
Lethal Congenital Contracture Syndrome 11 |
|
Pulmonary hypoplasia |
OMIM:617194 |
Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphism |
|
Pulmonary hypoplasia |
OMIM:613124 |
Larsen-Like Syndrome, Lethal Type |
|
Neonatal death, Pulmonary hypoplasia |
OMIM:245650 |
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities |
|
Pulmonary hypoplasia |
OMIM:616531 |
Ciliary Dyskinesia, Primary, 33 |
|
Recurrent pneumonia, Atelectasis, Recurrent bronchitis, Recurrent lower respiratory tract infecti... |
OMIM:616726 |
Mhc Class I Deficiency 1 |
|
Nasal polyposis, Bronchiolitis, Emphysema, Recurrent bronchitis, Bronchiectasis |
OMIM:604571 |
Lethal Congenital Contracture Syndrome 1 |
|
Neonatal death, Paucity of anterior horn motor neurons, Pulmonary hypoplasia |
OMIM:253310 |
Xeroderma Pigmentosum, Complementation Group F |
|
Defective DNA repair after ultraviolet radiation damage, Deficient excision of UV-induced pyrimid... |
OMIM:278760 |
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness |
|
Recurrent bronchitis, Atelectasis |
OMIM:300455 |
Fanconi Anemia, Complementation Group D2 |
|
Deficient excision of UV-induced pyrimidine dimers in DNA, Agenesis of corpus callosum, Prolonged... |
OMIM:227646 |
Congenital Lobar Emphysema |
|
Emphysema |
ORPHA:1928 |
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly |
|
Hydranencephaly, Neonatal death, Stillbirth, Multinucleated neuron, Pulmonary hypoplasia |
OMIM:236500 |
Pallister-Hall-Like Syndrome |
|
Occipital encephalocele, Hydrocephalus, Death in infancy, Pulmonary hypoplasia |
OMIM:241800 |
Alpha-1-Antitrypsin Deficiency |
|
Bronchiectasis, Panacinar emphysema, Chronic bronchitis |
OMIM:613490 |
Asbestos Intoxication |
|
Abnormal pulmonary interstitial morphology, Atelectasis, Interlobular septal thickening, Oxygen d... |
ORPHA:2302 |
Ciliary Dyskinesia, Primary, 21 |
|
Recurrent pneumonia, Bronchiectasis, Atelectasis |
OMIM:615294 |
Nphp3-Related Meckel-Like Syndrome |
|
Pulmonary hypoplasia |
ORPHA:3032 |
Birt-Hogg-Dubé Syndrome |
|
Emphysema, Pneumothorax, Pulmonary sequestration |
ORPHA:122 |
Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect |
|
Stillbirth, Pulmonary hypoplasia |
OMIM:617468 |
Fanconi Anemia, Complementation Group E |
|
Prolonged G2 phase of cell cycle, Deficient excision of UV-induced pyrimidine dimers in DNA, Chro... |
OMIM:600901 |
Renal Tubular Dysgenesis |
|
Pulmonary hypoplasia |
ORPHA:3033 |
Agnathia-Otocephaly Complex |
|
Pulmonary hypoplasia, Holoprosencephaly, Agenesis of corpus callosum |
OMIM:202650 |
Fanconi Anemia, Complementation Group A |
|
Prolonged G2 phase of cell cycle, Deficient excision of UV-induced pyrimidine dimers in DNA, Chro... |
OMIM:227650 |
Cutis Laxa, Neonatal, With Marfanoid Phenotype |
|
Emphysema |
OMIM:614100 |
Cutis Laxa-Marfanoid Syndrome |
|
Emphysema |
ORPHA:171719 |
Ciliary Dyskinesia, Primary, 29 |
|
Recurrent respiratory infections, Bronchiectasis, Atelectasis |
OMIM:615872 |
Infant Acute Respiratory Distress Syndrome |
|
Pneumonia, Atelectasis, Respiratory tract infection, Cyanosis, Pulmonary edema, Hypoxemia |
ORPHA:70587 |
Congenital Diaphragmatic Hernia |
|
Hypoxemia, Pulmonary hypoplasia |
ORPHA:2140 |
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome |
|
Pulmonary hypoplasia |
ORPHA:2141 |
Acute Interstitial Pneumonia |
|
Reticulonodular pattern on pulmonary HRCT, Atelectasis, Interlobular septal thickening, Hypoxemia... |
ORPHA:79126 |
Atelosteogenesis, Type Ii |
|
Stillbirth, Death in infancy, Pulmonary hypoplasia |
OMIM:256050 |
Fanconi Anemia, Complementation Group C |
|
Prolonged G2 phase of cell cycle, Deficient excision of UV-induced pyrimidine dimers in DNA, Chro... |
OMIM:227645 |
Primary Pulmonary Hypoplasia |
|
Abnormal pulmonary artery morphology, Cyanosis, Pneumothorax, Recurrent respiratory infections, H... |
ORPHA:2257 |
Berry Aneurysm, Cirrhosis, Pulmonary Emphysema, And Cerebral Calcification |
|
Emphysema |
OMIM:210050 |
Surfactant Metabolism Dysfunction, Pulmonary, 1 |
|
Absent bronchoalveolar dimeric surfactant-protein B, Intraalveolar phospholipid accumulation, Int... |
OMIM:265120 |
Trichothiodystrophy |
|
Recurrent bronchopulmonary infections, Defective DNA repair after ultraviolet radiation damage, P... |
ORPHA:33364 |
Familial Nasal Acilia |
|
Abnormal respiratory motile cilium morphology, Recurrent upper respiratory tract infections, Bron... |
ORPHA:922 |
Spinal Muscular Atrophy With Congenital Bone Fractures 2 |
|
Pulmonary hypoplasia |
OMIM:616867 |
Spondylospinal Thoracic Dysostosis |
|
Pulmonary hypoplasia |
OMIM:601809 |
Epidermodysplasia Verruciformis, Susceptibility To, 4 |
|
Emphysema |
OMIM:618307 |
Thanatophoric Dysplasia |
|
Hydrocephalus, Pulmonary hypoplasia |
ORPHA:2655 |
Idiopathic Chronic Eosinophilic Pneumonia |
|
Atelectasis, Hypereosinophilia, Pleural effusion, Hypersensitivity pneumonitis, Hypoxemia |
ORPHA:2902 |
Coenzyme Q10 Deficiency, Primary, 8 |
|
Pulmonary hypoplasia |
OMIM:616733 |
Thanatophoric Dysplasia, Type I |
|
Neonatal death, Hydrocephalus, Pulmonary hypoplasia |
OMIM:187600 |
Congenital Myopathy 1B, Autosomal Recessive |
|
Recurrent respiratory infections, Pulmonary hypoplasia |
OMIM:255320 |
Fanconi Renotubular Syndrome 5 |
|
Emphysema, Pulmonary fibrosis, Lung adenocarcinoma |
OMIM:618913 |
Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Neonatal death, Occipital encephalocele, Pulmonary hypoplasia |
OMIM:224410 |
Meconium Aspiration Syndrome |
|
Pneumothorax, Hypoxemia, Atelectasis, Aspiration pneumonia |
ORPHA:70588 |
Alg3-Cdg |
|
Neural tube defect, Pulmonary hypoplasia |
ORPHA:79321 |
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction |
|
Atelectasis, Cystic pattern on pulmonary HRCT, Oxygen desaturation on exertion, Hypoxemia, Recurr... |
OMIM:610978 |
Respiratory Distress Syndrome In Premature Infants |
|
Pulmonary edema, Atelectasis |
OMIM:267450 |
Hypophosphatasia |
|
Emphysema |
ORPHA:436 |
Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Neonatal death, Hydrocephalus, Pulmonary hypoplasia |
OMIM:314390 |
Achondrogenesis Type 2 |
|
Pulmonary hypoplasia |
ORPHA:93296 |
1Q41Q42 Microdeletion Syndrome |
|
Holoprosencephaly, Pulmonary hypoplasia |
ORPHA:250999 |
Ciliary Dyskinesia, Primary, 1 |
|
Pneumonia, Nasal polyposis, Atelectasis, Recurrent bronchitis, Communicating hydrocephalus, Bronc... |
OMIM:244400 |
Tonne-Kalscheuer Syndrome |
|
Pulmonary hypoplasia |
OMIM:300978 |
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull |
|
Pulmonary hypoplasia |
OMIM:601163 |
Odontochondrodysplasia 1 |
|
Recurrent respiratory infections, Death in infancy, Pulmonary hypoplasia |
OMIM:184260 |
Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome |
|
Partial agenesis of the corpus callosum, Pulmonary hypoplasia |
ORPHA:86822 |
Tetrasomy 5P |
|
Hydrocephalus, Recurrent respiratory infections, Cyanosis, Pulmonary hypoplasia |
ORPHA:3309 |
Primary Ciliary Dyskinesia |
|
Nasal polyposis, Atelectasis, Pulmonary situs ambiguus, Respiratory tract infection, Peribronchov... |
ORPHA:244 |
Xfe Progeroid Syndrome |
|
Death in adolescence, Defective DNA repair after ultraviolet radiation damage |
OMIM:610965 |
Bronchogenic Cyst |
|
Pneumonia, Pulmonary cyst, Bronchogenic cyst, Atelectasis, Abnormal pleura morphology |
ORPHA:2357 |
Gillessen-Kaesbach-Nishimura Syndrome |
|
Pulmonary hypoplasia, Abnormal lung lobation |
OMIM:263210 |
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies |
|
Pulmonary artery atresia, Recurrent respiratory infections, Pulmonary hypoplasia |
OMIM:618316 |
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome |
|
Aqueductal stenosis, Pulmonary hypoplasia |
ORPHA:3035 |
Tracheobronchopathia Osteochondroplastica |
|
Pneumonia, Recurrent pneumonia, Bronchitis, Atelectasis, Recurrent respiratory infections |
ORPHA:3348 |
Czeizel-Losonci Syndrome |
|
Myelomeningocele, Hydrocephalus, Spina bifida, Spina bifida occulta, Pulmonary hypoplasia |
ORPHA:2437 |
Immunodeficiency 89 And Autoimmunity |
|
Pulmonary bulla, Pleural thickening, Recurrent lower respiratory tract infections, Decreased eosi... |
OMIM:619632 |
Marden-Walker Syndrome |
|
Pulmonary hypoplasia, Agenesis of corpus callosum |
OMIM:248700 |
Lethal Congenital Contracture Syndrome Type 1 |
|
Pulmonary hypoplasia |
ORPHA:1486 |
Recurrent Respiratory Papillomatosis |
|
Abnormal lung morphology, Recurrent upper respiratory tract infections, Recurrent pneumonia, Atel... |
ORPHA:60032 |
Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Hydrocephalus, Encephalocele, Miscarriage, Pulmonary hypoplasia |
ORPHA:1865 |
Myotubular Myopathy With Abnormal Genital Development |
|
Death in infancy, Atelectasis, Neonatal death |
OMIM:300219 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Emphysema, Recurrent pneumonia, Bronchiectasis, Recurrent bronchopulmonary infections |
OMIM:242700 |
Meckel Syndrome 14 |
|
Occipital encephalocele, Cyanosis, Pneumothorax, Holoprosencephaly, Pulmonary hypoplasia |
OMIM:619879 |
Microcephaly-Micromelia Syndrome |
|
Neonatal death, Aqueductal stenosis, Pulmonary hypoplasia |
OMIM:251230 |
Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Pulmonary hypoplasia, Stillbirth, Abnormal lung lobation |
OMIM:615415 |
Pericardial And Diaphragmatic Defect |
|
Pulmonary sequestration, Hypoxemia, Pulmonary hypoplasia |
ORPHA:2847 |
Meckel Syndrome, Type 6 |
|
Occipital encephalocele, Bilobed right lung, Hydrocephalus, Anencephaly, Pulmonary hypoplasia |
OMIM:612284 |
Chromosome 13Q33-Q34 Deletion Syndrome |
|
Pulmonary hypoplasia, Anencephaly, Encephalocele, Agenesis of corpus callosum |
OMIM:619148 |
Xeroderma Pigmentosum, Complementation Group E |
|
Defective DNA repair after ultraviolet radiation damage |
OMIM:278740 |
Alpha-1-Antitrypsin Deficiency |
|
Emphysema, Bronchiectasis, Bronchitis |
ORPHA:60 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Pleural effusion, Pulmonary hypoplasia |
OMIM:616897 |
Chromosome 1Q41-Q42 Deletion Syndrome |
|
Holoprosencephaly, Pulmonary hypoplasia |
OMIM:612530 |
Netherton Syndrome |
|
Emphysema, Recurrent respiratory infections |
ORPHA:634 |
Short-Rib Thoracic Dysplasia 12 |
|
Atelectasis, Neonatal death, Hydrocephalus, Holoprosencephaly, Anencephaly, Pulmonary hypoplasia |
OMIM:269860 |
Xeroderma Pigmentosum, Complementation Group C |
|
Defective DNA repair after ultraviolet radiation damage |
OMIM:278720 |
Mosaic Trisomy 1 |
|
Pulmonary artery atresia, Pulmonary hypoplasia, Lateral ventricle dilatation, Agenesis of corpus ... |
ORPHA:1692 |
Genitopatellar Syndrome |
|
Pulmonary hypoplasia, Agenesis of corpus callosum |
ORPHA:85201 |
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7 |
|
Emphysema, Pulmonary fibrosis |
OMIM:620365 |
Hypocomplementemic Urticarial Vasculitis |
|
Emphysema, Pleural effusion |
ORPHA:36412 |
Xeroderma Pigmentosum, Complementation Group A |
|
Defective DNA repair after ultraviolet radiation damage |
OMIM:278700 |
Meacham Syndrome |
|
Congenital alveolar dysplasia, Scimitar anomaly, Death in childhood, Neonatal death, Death in inf... |
OMIM:608978 |
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Pulmonary hypoplasia |
OMIM:617895 |
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type |
|
Stillbirth, Pulmonary hypoplasia |
OMIM:151210 |
Xeroderma Pigmentosum, Complementation Group D |
|
Defective DNA repair after ultraviolet radiation damage |
OMIM:278730 |
Serkal Syndrome |
|
Pulmonary hypoplasia |
ORPHA:139466 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Neonatal death, Pulmonary hypoplasia |
OMIM:231680 |
Lymphangioleiomyomatosis |
|
Chylothorax, Atelectasis, Emphysema, Pulmonary lymphangiomyomatosis, Pneumothorax, Hydrocephalus,... |
ORPHA:538 |
Multiple Pterygium Syndrome, X-Linked |
|
Pulmonary hypoplasia |
OMIM:312150 |
Nephronophthisis 2 |
|
Pulmonary hypoplasia |
OMIM:602088 |
Congenital Tracheomalacia |
|
Pneumonia, Abnormal pulmonary artery morphology, Recurrent upper respiratory tract infections, Em... |
ORPHA:95430 |
Achondroplasia |
|
Hydrocephalus, Death in infancy, Pulmonary hypoplasia |
OMIM:100800 |
Microphthalmia, Syndromic 9 |
|
Agenesis of pulmonary vessels, Alveolar capillary dysplasia, Bilateral lung agenesis, Neonatal de... |
OMIM:601186 |
Pentalogy Of Cantrell |
|
Hydrocephalus, Anencephaly, Encephalocele, Pulmonary hypoplasia |
ORPHA:1335 |
Platyspondylic Dysplasia, Torrance Type |
|
Pulmonary hypoplasia |
ORPHA:85166 |
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity |
|
Hydranencephaly, Lateral ventricle dilatation, Atelectasis, Colpocephaly, Hydrocephalus, Pulmonar... |
OMIM:620371 |
Renal Hypodysplasia/Aplasia 1 |
|
Pulmonary hypoplasia |
OMIM:191830 |
Severe Congenital Nemaline Myopathy |
|
Pulmonary hypoplasia |
ORPHA:171430 |
Maternal Uniparental Disomy Of Chromosome 2 |
|
Respiratory infections in early life, Miscarriage, Pulmonary hypoplasia |
ORPHA:96179 |
Distal Triplication 15Q |
|
Hydrocephalus, Pulmonary hypoplasia |
ORPHA:314588 |
Cutis Laxa, Autosomal Recessive, Type Ic |
|
Peripheral pulmonary artery stenosis, Recurrent pneumonia, Atelectasis, Emphysema, Death in child... |
OMIM:613177 |
Spinal Muscular Atrophy With Congenital Bone Fractures 1 |
|
Pulmonary hypoplasia |
OMIM:616866 |
Fetal Akinesia Deformation Sequence |
|
Pulmonary hypoplasia |
ORPHA:994 |
De Sanctis-Cacchione Syndrome |
|
Defective DNA repair after ultraviolet radiation damage |
OMIM:278800 |
Multiple Pterygium Syndrome, Lethal Type |
|
Pulmonary hypoplasia |
OMIM:253290 |
Renal Tubular Dysgenesis |
|
Pulmonary hypoplasia |
OMIM:267430 |
Raine Syndrome |
|
Neonatal death, Hydrocephalus, Death in infancy, Pulmonary hypoplasia |
OMIM:259775 |
Scimitar Syndrome |
|
Pulmonary artery hypoplasia, Bronchogenic cyst, Pneumothorax, Partial anomalous pulmonary venous ... |
ORPHA:185 |
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs |
|
Pulmonary artery stenosis, Bilateral lung agenesis, Congenital pulmonary airway malformation, Pul... |
OMIM:611812 |
Fryns Syndrome |
|
Pulmonary hypoplasia, Agenesis of corpus callosum |
ORPHA:2059 |
Thoracoabdominal Syndrome |
|
Anencephaly, Hydrocephalus, Pulmonary hypoplasia |
OMIM:313850 |
Matthew-Wood Syndrome |
|
Abnormal lung morphology, Pulmonary hypoplasia |
ORPHA:2470 |
Meier-Gorlin Syndrome 4 |
|
Emphysema |
OMIM:613804 |
Pagod Syndrome |
|
Pulmonary artery hypoplasia, Encephalocele, Death in infancy, Abnormality of the pulmonary artery... |
ORPHA:991 |
Gaucher Disease, Perinatal Lethal |
|
Neonatal death, Pulmonary hypoplasia |
OMIM:608013 |
Gastrointestinal Defects And Immunodeficiency Syndrome 2 |
|
Interstitial emphysema, Bronchiectasis, Pulmonary hypoplasia |
OMIM:619708 |
Kagami-Ogata Syndrome |
|
Pulmonary hypoplasia |
OMIM:608149 |
Teebi Hypertelorism Syndrome 1 |
|
Pulmonary hypoplasia |
OMIM:145420 |
Diaphanospondylodysostosis |
|
Pulmonary hypoplasia |
OMIM:608022 |
Common Variable Immunodeficiency |
|
Pneumonia, Emphysema, Recurrent bronchitis, Recurrent respiratory infections, Bronchiectasis |
ORPHA:1572 |
Neurodegeneration And Seizures Due To Copper Transport Defect |
|
Pneumothorax, Pulmonary hypoplasia |
OMIM:620306 |
Vacterl With Hydrocephalus |
|
Aqueductal stenosis, Hydrocephalus, Spina bifida, Pulmonary hypoplasia |
ORPHA:3412 |
Acro-Renal-Mandibular Syndrome |
|
Pulmonary hypoplasia, Abnormal lung lobation |
ORPHA:958 |
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
Pulmonary hypoplasia |
OMIM:614091 |
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Neonatal death, Pulmonary hypoplasia |
OMIM:263200 |
Cutis Laxa, Autosomal Recessive, Type Ia |
|
Emphysema, Peripheral pulmonary artery stenosis, Recurrent respiratory infections |
OMIM:219100 |
Short-Rib Thoracic Dysplasia 14 With Polydactyly |
|
Anencephaly, Hydrocephalus, Occipital meningocele, Pulmonary hypoplasia |
OMIM:616546 |
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Encephalocele, Stillbirth, Pulmonary hypoplasia |
OMIM:616300 |
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Hydrocephalus, Repeated pneumothoraces, Atelectasis, Pulmonary hypoplasia |
ORPHA:536467 |
Achondrogenesis, Type Ia |
|
Stillbirth, Pulmonary hypoplasia |
OMIM:200600 |
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta |
|
Anomalous origin of right pulmonary artery from ascending aorta, Anomalous origin of left pulmona... |
ORPHA:99050 |
Caudal Regression Syndrome |
|
Pulmonary hypoplasia |
ORPHA:3027 |
Autosomal Recessive Multiple Pterygium Syndrome |
|
Spina bifida occulta, Pulmonary hypoplasia |
ORPHA:2990 |
Otopalatodigital Syndrome Type 2 |
|
Myelomeningocele, Hydrocephalus, Encephalocele, Pulmonary hypoplasia |
ORPHA:90652 |
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Lateral ventricle dilatation, Pulmonary hypoplasia |
OMIM:263520 |
Atelosteogenesis Type I |
|
Pulmonary hypoplasia |
ORPHA:1190 |
Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Death in childhood, Pulmonary hypoplasia |
OMIM:214100 |
Sarcoidosis, Susceptibility To, 1 |
|
Emphysema, Hypoxemia, Pleural effusion, Abnormal pulmonary interstitial morphology, Pulmonary fib... |
OMIM:181000 |
Absence Of The Pulmonary Artery |
|
Recurrent pneumonia, Cyanosis, Pulmonary edema, Hypocapnia, Recurrent respiratory infections, Bro... |
ORPHA:980 |
Loeys-Dietz Syndrome 4 |
|
Emphysema, Pneumothorax |
OMIM:614816 |
Neu-Laxova Syndrome |
|
Spina bifida, Pulmonary hypoplasia |
ORPHA:2671 |
Congenital Myopathy 17 |
|
Respiratory tract infection, Pulmonary hypoplasia |
OMIM:618975 |
Lethal Congenital Contracture Syndrome 10 |
|
Pulmonary hypoplasia |
OMIM:617022 |
Fryns Syndrome |
|
Pulmonary hypoplasia, Chylothorax, Stillbirth, Agenesis of corpus callosum |
OMIM:229850 |
Stuve-Wiedemann Syndrome 1 |
|
Death in infancy, Pulmonary arterial medial hypertrophy, Pulmonary hypoplasia |
OMIM:601559 |
Neu-Laxova Syndrome 1 |
|
Hydranencephaly, Neonatal death, Agenesis of corpus callosum, Spina bifida, Stillbirth, Pulmonary... |
OMIM:256520 |
Greenberg Dysplasia |
|
Neonatal death, Pulmonary hypoplasia, Stillbirth, Abnormal lung lobation |
OMIM:215140 |
Congenital Myopathy 22B, Severe Fetal |
|
Pleural effusion, Pulmonary hypoplasia |
OMIM:620369 |
Cutis Laxa, Autosomal Dominant 1 |
|
Emphysema, Peripheral pulmonary artery stenosis, Bronchiectasis |
OMIM:123700 |
Acrocephalopolydactylous Dysplasia |
|
Extrapulmonary lobar sequestration, Pulmonary hypoplasia |
OMIM:200995 |
Smith-Lemli-Opitz Syndrome |
|
Abnormal lung lobation, Death in infancy, Colpocephaly, Hydrocephalus, Partial agenesis of the co... |
OMIM:270400 |
Esophageal Atresia |
|
Cyanosis, Recurrent respiratory infections, Bronchitis, Pulmonary hypoplasia |
ORPHA:1199 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Neonatal death, Pulmonary hypoplasia |
OMIM:208540 |
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly |
|
Pulmonary hypoplasia |
OMIM:615503 |
Oligomeganephronia |
|
Pulmonary venous occlusion, Pulmonary hypoplasia |
ORPHA:2260 |
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Recurrent respiratory infections, Death in infancy, Pulmonary hypoplasia |
OMIM:208500 |
Cutis Laxa, Autosomal Recessive, Type Ib |
|
Pulmonary artery aneurysm, Pulmonary artery dilatation, Emphysema, Death in childhood, Neonatal d... |
OMIM:614437 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1 |
|
Pulmonary hypoplasia |
OMIM:614080 |
Autosomal Recessive Cutis Laxa Type 1 |
|
Emphysema, Peripheral pulmonary artery stenosis, Pneumothorax, Recurrent pneumonia |
ORPHA:90349 |
Meier-Gorlin Syndrome 6 |
|
Emphysema, Recurrent respiratory infections |
OMIM:616835 |
Neonatal Marfan Syndrome |
|
Emphysema, Hypoxemia |
ORPHA:284979 |
Tarp Syndrome |
|
Cyanosis, Pulmonary hypoplasia |
ORPHA:2886 |
Atelosteogenesis Type Ii |
|
Pulmonary hypoplasia |
ORPHA:56304 |
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects |
|
Stillbirth, Pulmonary hypoplasia |
OMIM:308050 |
Meckel Syndrome, Type 1 |
|
Occipital encephalocele, Agenesis of corpus callosum, Hydrocephalus, Anencephaly, Pulmonary hypop... |
OMIM:249000 |
Ciliary Dyskinesia, Primary, 20 |
|
Recurrent pneumonia, Atelectasis, Recurrent sinusitis, Pulmonary artery stenosis, Recurrent respi... |
OMIM:615067 |
Joubert Syndrome 21 |
|
Occipital encephalocele, Encephalocele, Pulmonary hypoplasia |
OMIM:615636 |
Meier-Gorlin Syndrome 1 |
|
Emphysema, Death in infancy |
OMIM:224690 |
Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Neonatal death, Pulmonary hypoplasia |
OMIM:617925 |
Truncus Arteriosus |
|
Pulmonary artery hypoplasia, Abnormal lung lobation, Cyanosis, Anomalous origin of one pulmonary ... |
ORPHA:3384 |
Renal Agenesis, Bilateral |
|
Pulmonary hypoplasia |
ORPHA:1848 |
Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Emphysema, Abnormality of the pulmonary artery |
ORPHA:363618 |
Ellis Van Creveld Syndrome |
|
Emphysema, Aplasia/Hypoplasia of the lungs |
ORPHA:289 |
Fontaine Progeroid Syndrome |
|
Death in infancy, Neonatal death, Pneumothorax, Hydrocephalus, Recurrent aspiration pneumonia, Pu... |
OMIM:612289 |
Keutel Syndrome |
|
Pulmonary artery hypoplasia, Peripheral pulmonary artery stenosis, Emphysema, Recurrent bronchiti... |
OMIM:245150 |
Ehlers-Danlos Syndrome, Vascular Type |
|
Diffuse alveolar hemorrhage, Spontaneous pneumothorax, Emphysema, Nodular pattern on pulmonary HR... |
OMIM:130050 |
Renal Agenesis |
|
Pulmonary hypoplasia |
ORPHA:411709 |
Fetal Akinesia Deformation Sequence 1 |
|
Hydrocephalus, Stillbirth, Pulmonary hypoplasia |
OMIM:208150 |
Nocardiosis |
|
Pneumonia, Emphysema, Pleural effusion, Pneumothorax, Pleuritis |
ORPHA:31204 |
Tetraamelia Syndrome 1 |
|
Peripheral pulmonary vessel aplasia, Hydrocephalus, Pulmonary hypoplasia |
OMIM:273395 |
Alg9-Cdg |
|
Abnormal lung lobation, Pulmonary hypoplasia |
ORPHA:79328 |
Smith-Lemli-Opitz Syndrome |
|
Abnormal lung lobation, Holoprosencephaly, Pulmonary hypoplasia |
ORPHA:818 |
Multiple Pterygium Syndrome, Escobar Variant |
|
Pulmonary hypoplasia |
OMIM:265000 |
Mosaic Trisomy 16 |
|
Abnormal lung morphology, Pulmonary hypoplasia |
ORPHA:1708 |
Sarcoidosis |
|
Chylothorax, Emphysema, Abnormal pleura morphology, Pleural effusion, Eosinophilia, Pneumothorax,... |
ORPHA:797 |
Spondylodysplastic Ehlers-Danlos Syndrome |
|
Pulmonary hypoplasia |
ORPHA:536471 |
Meier-Gorlin Syndrome 7 |
|
Pulmonary hypoplasia |
OMIM:617063 |
Blomstrand Lethal Chondrodysplasia |
|
Pulmonary hypoplasia |
ORPHA:50945 |
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
|
Pulmonary hypoplasia |
OMIM:271520 |
Marfan Syndrome |
|
Emphysema, Spontaneous pneumothorax, Pulmonary artery dilatation, Meningocele |
ORPHA:558 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Emphysema, Abnormal pulmonary interstitial morphology |
OMIM:613658 |
Ogden Syndrome |
|
Pulmonary edema, Pulmonary artery stenosis, Peripheral pulmonary artery stenosis, Pulmonary hypop... |
OMIM:300855 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Dysplastic corpus callosum, Unilateral lung agenesis, Emphysema, Lateral ventricle dilatation |
ORPHA:500150 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2 |
|
Pulmonary hypoplasia |
OMIM:619351 |
Acrorenal-Mandibular Syndrome |
|
Pulmonary hypoplasia |
OMIM:200980 |
Marfan Syndrome |
|
Emphysema, Pneumothorax, Pulmonary artery dilatation |
OMIM:154700 |
Orofaciodigital Syndrome Type 4 |
|
Recurrent respiratory infections, Bilateral lung agenesis, Pulmonary hypoplasia |
ORPHA:2753 |
Fabry Disease |
|
Emphysema |
ORPHA:324 |
Fraser Syndrome 1 |
|
Myelomeningocele, Hydrocephalus, Encephalocele, Pulmonary hypoplasia |
OMIM:219000 |
Autosomal Dominant Cutis Laxa |
|
Emphysema, Peripheral pulmonary artery stenosis, Bronchiolitis, Bronchiectasis |
ORPHA:90348 |
Schinzel-Giedion Syndrome |
|
Recurrent pneumonia, Neural tube defect, Pulmonary hypoplasia |
ORPHA:798 |
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Pulmonary artery stenosis, Spinal dysraphism, Miscarriage, Pulmonary hypoplasia |
ORPHA:96334 |
Diaphragmatic Hernia 4, With Cardiovascular Defects |
|
Pulmonary artery hypoplasia, Aortopulmonary window, Pulmonary hypoplasia |
OMIM:620025 |
Osteogenesis Imperfecta |
|
Hydrocephalus, Noncommunicating hydrocephalus, Pulmonary hypoplasia |
ORPHA:666 |
Restrictive Dermopathy 1 |
|
Neonatal death, Stillbirth, Pulmonary hypoplasia |
OMIM:275210 |
Genitopatellar Syndrome |
|
Pulmonary hypoplasia, Colpocephaly, Agenesis of corpus callosum |
OMIM:606170 |
Fraser Syndrome |
|
Abnormal lung lobation, Myelomeningocele, Encephalocele, Death in infancy, Pulmonary hypoplasia |
ORPHA:2052 |
Dpagt1-Cdg |
|
Pulmonary hypoplasia |
ORPHA:86309 |
Lethal Congenital Contracture Syndrome 9 |
|
Pulmonary hypoplasia |
OMIM:616503 |
Distal Deletion 15Q |
|
Pulmonary hypoplasia |
ORPHA:1596 |
Mckusick-Kaufman Syndrome |
|
Pulmonary hypoplasia |
OMIM:236700 |
Autosomal Recessive Polycystic Kidney Disease |
|
Spontaneous pneumothorax, Recurrent pneumonia, Pulmonary hypoplasia |
ORPHA:731 |
Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome |
|
Pulmonary hypoplasia |
ORPHA:1112 |
Tetrasomy 9P |
|
Hydrocephalus, Pulmonary hypoplasia |
ORPHA:3310 |
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type |
|
Pulmonary hypoplasia, Agenesis of corpus callosum |
ORPHA:93271 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Pulmonary hypoplasia |
ORPHA:83617 |
Cardiac-Urogenital Syndrome |
|
Partial anomalous pulmonary venous return, Scimitar anomaly, Pulmonary hypoplasia |
OMIM:618280 |
Congenital Total Pulmonary Venous Return Anomaly |
|
Mixed total anomalous pulmonary venous connection, Cyanosis, Pulmonary artery stenosis, Infracard... |
ORPHA:99125 |
Penile Agenesis |
|
Bilateral lung agenesis, Pulmonary hypoplasia |
ORPHA:49 |
Restrictive Dermopathy |
|
Pulmonary hypoplasia |
ORPHA:1662 |
Viss Syndrome |
|
Emphysema, Pulmonary artery aneurysm, Pneumothorax, Hypereosinophilia |
OMIM:619472 |
Craniofacial Microsomia 1 |
|
Pulmonary hypoplasia, Occipital encephalocele, Hydrocephalus, Agenesis of corpus callosum |
OMIM:164210 |
Proteus Syndrome |
|
Pulmonary cyst, Bronchogenic cyst, Abnormal lung lobation, Pulmonary bulla, Neoplasm of the lung |
ORPHA:744 |
Ulbright-Hodes Syndrome |
|
Pneumothorax, Pulmonary hypoplasia |
ORPHA:3404 |
Pallister-Killian Syndrome |
|
Stillbirth, Pulmonary hypoplasia |
OMIM:601803 |
Sotos Syndrome |
|
Pulmonary bleb, Small cell lung carcinoma |
ORPHA:821 |
Microphthalmia, Syndromic 1 |
|
Pulmonary hypoplasia |
OMIM:309800 |