| Asbestos Intoxication |
|
Myocardial fibrosis, Interlobular septal thickening, Oxygen desaturation on exertion, Reduced vit... |
ORPHA:2302 |
| Bronchopulmonary Dysplasia |
|
Respiratory distress, Hyperoxemia, Right ventricular hypertrophy, Abnormal respiratory system phy... |
ORPHA:70589 |
| Stuve-Wiedemann Syndrome 2 |
|
Respiratory distress, Intrauterine growth retardation, Scoliosis, Neonatal death, Death in adoles... |
OMIM:619751 |
| Atrioventricular Septal Defect 5 |
|
Atrioventricular canal defect, Muscular ventricular septal defect |
OMIM:614474 |
| Pseudoachondroplasia |
|
Irregular carpal bones, Cone-shaped epiphysis, Platyspondyly, Hypoplasia of the capital femoral e... |
ORPHA:750 |
| Geroderma Osteodysplasticum |
|
Irregular vertebral endplates, Recurrent fractures, Tibial bowing, Beaking of vertebral bodies, K... |
OMIM:231070 |
| Atrial Septal Defect 5 |
|
Atrial septal defect |
OMIM:612794 |
| Pulmonary Nodular Lymphoid Hyperplasia |
|
Dyspnea, Ground-glass opacification, Cough, Nodular pattern on pulmonary HRCT |
ORPHA:60026 |
| Transaldolase Deficiency |
|
Telangiectasia, Biventricular hypertrophy, Atrial septal defect, Premature skin wrinkling |
ORPHA:101028 |
| Waardenburg Syndrome Type 3 |
|
Joint stiffness, Abnormality of finger, Atrial septal defect, Tracheomalacia, Camptodactyly of fi... |
ORPHA:896 |
| Acute Interstitial Pneumonia |
|
Interlobular septal thickening, Pulmonary infiltrates, Hypoxemia, Nodular pattern on pulmonary HR... |
ORPHA:79126 |
| Pulmonary Blastoma |
|
Dyspnea, Pulmonary infiltrates, Recurrent pneumonia, Cough |
ORPHA:64741 |
| Odontochondrodysplasia 1 |
|
Respiratory distress, Cone-shaped epiphyses of the phalanges of the hand, Platyspondyly, Micromel... |
OMIM:184260 |
| Ciliary Dyskinesia, Primary, 21 |
|
Atelectasis, Ciliary dyskinesia, Chronic sinusitis, Recurrent pneumonia, Bronchiectasis, Neonatal... |
OMIM:615294 |
| Cardiomyopathy, Dilated, 2D |
|
Right atrial enlargement, Perinuclear cardiomyocyte vacuolization, Muscular ventricular septal de... |
OMIM:619371 |
| Dermatoleukodystrophy |
|
Large hands, Progeroid facial appearance, Premature skin wrinkling |
OMIM:221790 |
| Epiphyseal Dysplasia, Multiple, 1 |
|
Irregular vertebral endplates, Joint stiffness, Delayed epiphyseal ossification, Epiphyseal dyspl... |
OMIM:132400 |
| Eyebrows, Duplication Of, With Stretchable Skin And Syndactyly |
|
Hypermobility of interphalangeal joints, 2-3 toe syndactyly, Periorbital wrinkles, 2-4 finger syn... |
OMIM:227210 |
| Ciliary Dyskinesia, Primary, 20 |
|
Respiratory insufficiency due to defective ciliary clearance, Cough, Situs inversus totalis, Dext... |
OMIM:615067 |
| Ciliary Dyskinesia, Primary, 47, And Lissencephaly |
|
Respiratory distress, Abnormal mucociliary clearance, Atelectasis, Bronchiectasis |
OMIM:619466 |
| Idiopathic Chronic Eosinophilic Pneumonia |
|
Asthma, Nonproductive cough, Crackles, Generalized abnormality of skin, Parenchymal consolidation... |
ORPHA:2902 |
| Osebold-Remondini Syndrome |
|
Carpal synostosis, Short toe, Dysplastic distal radial epiphyses, Hypoplasia of the radius, Short... |
OMIM:112910 |
| Meconium Aspiration Syndrome |
|
Respiratory distress, Intrauterine growth retardation, Hypoxemia, Aspiration pneumonia, Wheezing,... |
ORPHA:70588 |
| Eiken Syndrome |
|
Delayed epiphyseal ossification, Epiphyseal dysplasia, Abnormal bone ossification, Metaphyseal ir... |
ORPHA:79106 |
| Recurrent Respiratory Papillomatosis |
|
Respiratory distress, Tracheomalacia, Nonproductive cough, Respiratory insufficiency, Wheezing, T... |
ORPHA:60032 |
| Isolated Congenital Hypoglossia/Aglossia |
|
Respiratory distress, Aspiration pneumonia, Upper airway obstruction, Dyspnea, Aplasia/Hypoplasia... |
ORPHA:141152 |
| Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction |
|
Respiratory distress, Oxygen desaturation on exertion, Pulmonary infiltrates, Asthma, Atrial sept... |
OMIM:610978 |
| Stuve-Wiedemann Syndrome 1 |
|
Apnea, Femoral bowing, Short neck, Ulnar deviation of finger, Single transverse palmar crease, Co... |
OMIM:601559 |
| Respiratory Distress Syndrome In Premature Infants |
|
Respiratory distress, Tachypnea, Atelectasis, Neonatal respiratory distress, Dyspnea |
OMIM:267450 |
| Craniofaciofrontodigital Syndrome |
|
Respiratory distress, Bicuspid aortic valve, Atrial septal defect, Aortic valve stenosis, Cutis l... |
ORPHA:363705 |
| Cutis Laxa, Autosomal Dominant 3 |
|
Talipes equinovarus, Cutis laxa, Adducted thumb, Osteopenia, Premature skin wrinkling, Hip disloc... |
OMIM:616603 |
| Perching Syndrome |
|
Respiratory distress, Flexion contracture, Camptodactyly |
OMIM:617055 |
| Surfactant Metabolism Dysfunction, Pulmonary, 3 |
|
Crazy paving pattern, Respiratory distress, Apnea, Hypoxemia, Nodular pattern on pulmonary HRCT, ... |
OMIM:610921 |
| Mucus Inspissation Of Respiratory Tract |
|
Bronchiectasis, Atelectasis, Chronic sinusitis, Chronic pulmonary obstruction |
OMIM:253240 |
| Acrogeria |
|
Telangiectasia of the skin, Prematurely aged appearance, Small hand, Excessive wrinkled skin, Sco... |
ORPHA:2500 |
| Cutis Laxa, Autosomal Dominant 2 |
|
Scoliosis, Cutis laxa, Premature skin wrinkling |
OMIM:614434 |
| Ciliary Dyskinesia, Primary, 29 |
|
Bronchiectasis, Decreased nasal nitric oxide, Atelectasis, Ciliary dyskinesia |
OMIM:615872 |
| Pseudoachondroplasia |
|
Fragmented epiphyses, Irregular carpal bones, Fragmented, irregular epiphyses, Platyspondyly, Sma... |
OMIM:177170 |
| Ventricular Septal Defect 1 |
|
Ventricular septal defect, Pulmonic stenosis, Atrial septal defect |
OMIM:614429 |
| Tricuspid Atresia |
|
Tricuspid atresia, Atrial septal defect, Cyanosis, Ventricular septal defect, Hypoplasia of right... |
ORPHA:1209 |
| B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Respiratory distress, Multiple joint contractures, Slender long bones with narrow diaphyses, Cran... |
ORPHA:536467 |
| Hypomyelination Neuropathy-Arthrogryposis Syndrome |
|
Respiratory distress, Limitation of joint mobility |
ORPHA:2680 |
| Aquagenic Palmoplantar Keratoderma |
|
Palmoplantar hyperhidrosis, Excessive skin wrinkling on dorsum of hands and fingers, Palmoplantar... |
ORPHA:498359 |
| Odontochondrodysplasia |
|
Respiratory distress, Cone-shaped epiphysis, Platyspondyly, Micromelia, Scoliosis, Square pelvis ... |
ORPHA:166272 |
| White Forelock With Malformations |
|
Prominent veins on trunk, Atrial septal defect |
OMIM:277740 |
| Bronchogenic Cyst |
|
Back pain, Abnormal pericardium morphology, Abnormal lumbar spine morphology, Cough, Atelectasis,... |
ORPHA:2357 |
| Cog7-Cdg |
|
Abnormality of finger, Adducted thumb, Excessive wrinkled skin, Short neck, Long fingers, Jaundic... |
ORPHA:79333 |
| Neurogenic Arthrogryposis Multiplex Congenita |
|
Respiratory distress, Hip contracture, Respiratory insufficiency due to muscle weakness, Flexion ... |
ORPHA:1143 |
| Elastoderma |
|
Cutis laxa, Premature skin wrinkling |
ORPHA:228240 |
| Solitary Bone Cyst |
|
Lytic defects of the radius, Abnormal humeral diaphysis morphology, Back pain, Abnormality of the... |
ORPHA:83468 |
| Ciliary Dyskinesia, Primary, 33 |
|
Cough, Chronic rhinitis, Atelectasis, Ciliary dyskinesia, Recurrent pneumonia, Bronchiectasis |
OMIM:616726 |
| Adams-Oliver Syndrome 4 |
|
Ventricular septal defect, Cutis marmorata, Atrial septal defect, Umbilical hernia |
OMIM:615297 |
| Isolated Right Ventricular Hypoplasia |
|
Right atrial enlargement, Atrial septal defect, Muscular ventricular septal defect, Cyanosis, Pat... |
ORPHA:439 |
| Familial Nasal Acilia |
|
Respiratory distress, Chronic rhinitis, Atelectasis, Chronic sinusitis, Bronchiectasis, Dyspnea |
ORPHA:922 |
| Lipodystrophy-Intellectual Disability-Deafness Syndrome |
|
Progeroid facial appearance, Slender long bones with narrow diaphyses, Osteopenia, Dense metaphys... |
ORPHA:50811 |
| Immunodeficiency 95 |
|
Respiratory distress, Recurrent viral pneumonia, Respiratory failure, Ground-glass opacification |
OMIM:619773 |
| Arthrogryposis Multiplex Congenita 5 |
|
Intrauterine growth retardation, Kyphoscoliosis, Talipes equinovarus, Flexion contracture, Adduct... |
OMIM:618947 |
| Acromesomelic Dysplasia 2A |
|
Stillbirth, Flexion contracture, Short femur, Hypoplasia of the radius, Short tibia, Short humeru... |
OMIM:200700 |
| Ehlers-Danlos Syndrome, Beasley-Cohen Type |
|
Hip dislocation, Excessive skin wrinkling on dorsum of hands and fingers, Joint laxity |
OMIM:608763 |
| Thanatophoric Dysplasia Type 1 |
|
Joint stiffness, Kyphosis, Atrial septal defect, Short femur, Excessive wrinkled skin, Femoral bo... |
ORPHA:1860 |
| Microphthalmia, Syndromic 8 |
|
Premature skin wrinkling, Split foot |
OMIM:601349 |
| Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density |
|
Short femur, Hypoplasia of the radius, Short tibia, Absent ossification of cervical vertebral bod... |
OMIM:601376 |
| Infant Acute Respiratory Distress Syndrome |
|
Cyanosis, Tachypnea, Atelectasis, Pneumonia, Hypoxemia, Respiratory failure, Nasal flaring |
ORPHA:70587 |
| Plectin-Related Limb-Girdle Muscular Dystrophy R17 |
|
Decreased cervical spine flexion due to contractures of posterior cervical muscles, Atelectasis, ... |
ORPHA:254361 |
| Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections, With Or Without Deafness |
|
Atelectasis, Chronic sinusitis |
OMIM:300455 |
| Lethal Recessive Chondrodysplasia |
|
Respiratory distress, Micromelia, Limb undergrowth, Generalized osteosclerosis, Flared elbow meta... |
ORPHA:1423 |
| Primary Ciliary Dyskinesia |
|
Double outlet right ventricle, Bronchiectasis, Airway obstruction, Anomalous pulmonary venous ret... |
ORPHA:244 |
| Myotubular Myopathy With Abnormal Genital Development |
|
Respiratory distress, Neonatal death, Atelectasis, Death in infancy, Joint hypermobility |
OMIM:300219 |
| Autosomal Dominant Hyper-Ige Syndrome |
|
Recurrent fractures, Osteomyelitis, Craniosynostosis, Osteopenia, Generalized abnormality of skin... |
ORPHA:2314 |
| 8p23.1 deletion syndrome |
|
Abnormal heart morphology, Atrial septal defect, Atrioventricular canal defect |
DECIPHER:39 |
| Macroepiphyseal Dysplasia With Osteoporosis, Wrinkled Skin, And Aged Appearance |
|
Reduced subcutaneous adipose tissue, Recurrent fractures, Epiphyseal dysplasia, Prematurely aged ... |
OMIM:248010 |
| Congenital Heart Defects, Multiple Types, 5 |
|
Double outlet right ventricle, Bicuspid aortic valve, Atrial septal defect, Aortic valve stenosis... |
OMIM:617912 |
| Chronic Pneumonitis Of Infancy |
|
Respiratory distress, Diffuse reticular or finely nodular infiltrations, Cyanosis, Ground-glass o... |
ORPHA:91359 |
| Myopathy, Areflexia, Respiratory Distress, And Dysphagia, Early-Onset |
|
Respiratory distress, Talipes equinovarus, Camptodactyly of finger, Respiratory insufficiency, Sc... |
OMIM:614399 |
| Heart Defects-Limb Shortening Syndrome |
|
Ventricular septal defect, Abnormal mitral valve morphology, Abnormal tricuspid valve morphology,... |
ORPHA:1354 |
| Kniest Dysplasia |
|
Respiratory distress, Hip contracture, Delayed epiphyseal ossification, Tibial bowing, Coxa vara,... |
OMIM:156550 |
| Interstitial Lung Disease 1 |
|
Interlobular septal thickening, Crackles, Ground-glass opacification, Cough, Decreased DLCO, Intr... |
OMIM:619611 |
| Tracheobronchopathia Osteochondroplastica |
|
Respiratory insufficiency, Wheezing, Atelectasis, Upper airway obstruction, Pneumonia, Recurrent ... |
ORPHA:3348 |
| Spinal Muscular Atrophy, Type I |
|
Ventricular septal defect, Atrial septal defect |
OMIM:253300 |
| Acromesomelic Dysplasia 1 |
|
Broad phalanx, Cone-shaped epiphyses of the phalanges of the hand, Thoracolumbar interpediculate ... |
OMIM:602875 |
| Metaphyseal Acroscyphodysplasia |
|
Cone-shaped epiphyses of the phalanges of the hand, Craniosynostosis, Platyspondyly, Micromelia, ... |
OMIM:250215 |
| Arthrogryposis, Distal, Type 1A |
|
Hip contracture, Decreased hip abduction, Overlapping toe, Talipes equinovarus, Joint contracture... |
OMIM:108120 |
| Nicolaides-Baraitser Syndrome |
|
Abnormality of finger, Excessive wrinkled skin, Broad distal phalanx of finger, Brachydactyly, Sc... |
ORPHA:3051 |
| Surfactant Metabolism Dysfunction, Pulmonary, 2 |
|
Respiratory distress, Hypoxemia, Cystic pattern on pulmonary HRCT, Cyanosis, Respiratory insuffic... |
OMIM:610913 |
| Muscular Hypertonia, Lethal |
|
Respiratory distress, Death in infancy, Pneumonia |
OMIM:254120 |
| Distal 7Q11.23 Microdeletion Syndrome |
|
Atrial septal defect |
ORPHA:254351 |
| Geroderma Osteodysplastica |
|
Recurrent fractures, Beaking of vertebral bodies, Abnormal bone ossification, Prematurely aged ap... |
ORPHA:2078 |
| Lethal Osteosclerotic Bone Dysplasia |
|
Respiratory distress, Short neck, Respiratory failure, Dyspnea, Intrauterine growth retardation |
ORPHA:1832 |
| Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly |
|
Short distal phalanx of finger, Respiratory distress, Cone-shaped epiphyses of the phalanges of t... |
OMIM:617102 |
| Surfactant Metabolism Dysfunction, Pulmonary, 1 |
|
Interlobular septal thickening, Apnea, Cyanosis, Neonatal death, Ground-glass opacification, Tach... |
OMIM:265120 |
| Emphysema, Congenital Lobar |
|
Respiratory distress |
OMIM:130710 |
| Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome |
|
Fibular metaphyseal irregularity, Craniosynostosis, Short fourth metatarsal, Osteopenia, Cone-sha... |
ORPHA:457395 |
| Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 2 |
|
Muscular ventricular septal defect |
OMIM:620062 |
| Alg8-Cdg |
|
Talipes equinovarus, Cutis laxa, Brachydactyly, Camptodactyly, Abnormality of subcutaneous fat ti... |
ORPHA:79325 |
| Dyggve-Melchior-Clausen Disease |
|
Cone-shaped epiphyses of the phalanges of the hand, Femoral bowing, Short neck, Platyspondyly, Rh... |
OMIM:223800 |
| Cryptogenic Organizing Pneumonia |
|
Respiratory distress, Hypoxemia, Nonproductive cough, Cyanosis, Crackles, Ground-glass opacificat... |
ORPHA:1302 |
| Cardiomyopathy, Familial Hypertrophic, 4 |
|
Right atrial enlargement, Myofiber disarray, Muscular ventricular septal defect, Ventricular sept... |
OMIM:115197 |
| Spondyloepiphyseal Dysplasia Congenita |
|
Respiratory distress, Coxa vara, Kyphosis, Lumbar hyperlordosis, Talipes equinovarus, Atlantoaxia... |
OMIM:183900 |
| Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome |
|
Reduced FEV1/FVC ratio, Chronic pulmonary obstruction, Hypoxemia, Diffuse reticular or finely nod... |
ORPHA:79127 |
| Ehlers-Danlos Syndrome, Classic-Like, 2 |
|
Cervical C2/C3 vertebral fusion, Thoracic scoliosis, Prematurely aged appearance, Bruising suscep... |
OMIM:618000 |
| Short Syndrome |
|
Joint laxity, Clinodactyly, Premature skin wrinkling, Radial deviation of finger, Enlarged epiphy... |
OMIM:269880 |
| Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy |
|
Ventricular septal defect, Atrial septal defect |
OMIM:614249 |
| Megabladder, Congenital |
|
Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Bicuspid aortic valve, ... |
OMIM:618719 |
| Diamond-Blackfan Anemia 16 |
|
Pulmonic stenosis, Atrial septal defect |
OMIM:617408 |
| Enthesitis-Related Juvenile Idiopathic Arthritis |
|
Finger dactylitis, Enthesitis, Knee osteoarthritis, Abnormal heart morphology, Oligoarthritis, Ba... |
ORPHA:85438 |
| Progeroid Facial Appearance With Hand Anomalies |
|
Reduced subcutaneous adipose tissue, Clinodactyly of the 5th finger, Progeroid facial appearance,... |
OMIM:602249 |
| Arthrogryposis, Distal, Type 11 |
|
Limited pronation/supination of forearm, Talipes equinovarus, Camptodactyly, Metatarsus adductus,... |
OMIM:620019 |
| Congenital Disorder Of Glycosylation, Type Iy |
|
Respiratory distress, Scoliosis, Clinodactyly |
OMIM:300934 |
| Atrial Septal Defect 2 |
|
Atrial septal defect, Atrioventricular canal defect, Pulmonic stenosis, Ventricular septal defect... |
OMIM:607941 |
| Thiemann Disease |
|
Broad phalanx, Short phalanx of finger |
OMIM:165700 |
| Short-Rib Thoracic Dysplasia 12 |
|
Bowing of the legs, Short toe, Respiratory insufficiency, Bowing of the arm, Brachydactyly, Neona... |
OMIM:269860 |
| Diaphanospondylodysostosis |
|
Respiratory distress, Abnormal vertebral segmentation and fusion, Short neck, Absent or minimally... |
ORPHA:66637 |
| Idiopathic Acute Eosinophilic Pneumonia |
|
Pulmonary infiltrates, Respiratory insufficiency, Cough, Restrictive ventilatory defect, Abnormal... |
ORPHA:724 |
| Myasthenic Syndrome, Congenital, 6, Presynaptic |
|
Respiratory distress, Arthrogryposis multiplex congenita, Apneic episodes precipitated by illness... |
OMIM:254210 |
| Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3 |
|
Irregular vertebral endplates, Dislocated radial head, Kyphoscoliosis, Flat capital femoral epiph... |
OMIM:612350 |
| Idiopathic Pulmonary Fibrosis |
|
Crackles, Reticular pattern on pulmonary HRCT, Cough, Ground-glass opacification, Exertional dysp... |
ORPHA:2032 |
| Sandestig-Stefanova Syndrome |
|
Perimembranous ventricular septal defect, Muscular ventricular septal defect |
OMIM:618804 |
| Developmental And Epileptic Encephalopathy 30 |
|
Respiratory distress, Death in infancy |
OMIM:616341 |
| Mitochondrial Complex I Deficiency, Nuclear Type 30 |
|
Redundant skin, Respiratory failure, Intrauterine growth retardation, Neonatal death |
OMIM:301021 |
| Imperforate Oropharynx-Costovertebral Anomalies Syndrome |
|
Respiratory distress, Clinodactyly of the 5th finger, Arachnodactyly, Hemivertebrae, Abnormal for... |
ORPHA:2759 |
| Mesoaxial Hexadactyly And Cardiac Malformation |
|
Pulmonic stenosis, Ventricular septal defect, Atrial septal defect |
OMIM:249670 |
| Pulmonary Non-Tuberculous Mycobacterial Infection |
|
Respiratory distress, Chronic pulmonary obstruction, Crackles, Cough, Pneumothorax, Pulmonary opa... |
ORPHA:411703 |
| Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome |
|
Abnormal heart morphology, Atrial septal defect, Perimembranous ventricular septal defect, Muscul... |
ORPHA:363444 |
| Atrial Septal Defect 4 |
|
Atrial septal defect, Patent foramen ovale |
OMIM:611363 |
| Acromicric Dysplasia |
|
Fifth metacarpal with ulnar notch, Short metacarpal, Cone-shaped epiphysis, Short phalanx of fing... |
OMIM:102370 |
| Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones |
|
Progeroid facial appearance, Slender long bones with narrow diaphyses, Osteopenia, Metaphyseal st... |
OMIM:608154 |
| Moebius Syndrome |
|
Respiratory distress, Talipes equinovarus, Short neck, Brachydactyly, Short phalanx of finger, Sy... |
OMIM:157900 |
| Microcephalic Primordial Dwarfism, Montreal Type |
|
Vertebral segmentation defect, Kyphosis, Prematurely aged appearance, Reduced bone mineral densit... |
ORPHA:2617 |
| Histiocytosis, Familial Lipochrome |
|
Pulmonary infiltrates |
OMIM:235900 |
| Farber Disease |
|
Respiratory distress, Short toe, Flexion contracture, Nodular pattern on pulmonary HRCT, Diffuse ... |
ORPHA:333 |
| Bronchiolitis Obliterans With Obstructive Pulmonary Disease |
|
Reduced forced expiratory volume in one second, Reduced FEV1/FVC ratio, Airway obstruction, Nonpr... |
ORPHA:1303 |
| Otopalatodigital Syndrome, Type I |
|
Short 3rd metacarpal, Broad hallux, Sandal gap, Broad distal phalanx of the thumb, Short distal p... |
OMIM:311300 |
| Combined Oxidative Phosphorylation Deficiency 36 |
|
Premature skin wrinkling |
OMIM:617950 |
| Porencephaly, Cerebellar Hypoplasia, And Internal Malformations |
|
Situs inversus totalis, Atrial septal defect, Tetralogy of Fallot |
OMIM:601322 |
| Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy |
|
Respiratory distress, Kyphoscoliosis |
OMIM:619099 |
| Pomt1-Related Limb-Girdle Muscular Dystrophy R11 |
|
Respiratory distress, Lumbar hyperlordosis, Spinal rigidity, Left ventricular hypertrophy, Scolio... |
ORPHA:86812 |
| Laryngotracheal Angioma |
|
Respiratory distress, Apnea, Cyanosis, Wheezing, Cough, Intercostal retractions, Stridor |
ORPHA:137935 |
| T-Cell Immunodeficiency, Recurrent Infections, And Autoimmunity With Or Without Cardiac Malformations |
|
Atrial septal defect |
OMIM:614868 |
| Cardiomyopathy, Dilated, 1Gg |
|
Respiratory distress, Left ventricular noncompaction, Dilated cardiomyopathy |
OMIM:613642 |
| Cog5-Cdg |
|
Joint contracture of the hand, Camptodactyly of finger, Short neck, Finger clinodactyly, Genu val... |
ORPHA:263487 |
| Cutis Laxa, Autosomal Recessive, Type Iib |
|
Bruising susceptibility, Excessive wrinkled skin, Osteopenia, Lack of skin elasticity, Congenital... |
OMIM:612940 |
| Chromosome 16P13.3 Duplication Syndrome |
|
Short toe, Atrial septal defect, Short phalanx of finger, Tapered finger, Camptodactyly, Ventricu... |
OMIM:613458 |
| Smith-Mccort Dysplasia 1 |
|
Multicentric femoral head ossification, Metaphyseal irregularity, Kyphosis, Beaking of vertebral ... |
OMIM:607326 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 2 |
|
Respiratory distress, Hypertrophic cardiomyopathy, Death in infancy |
OMIM:604377 |
| Brachydactyly-Syndactyly Syndrome |
|
Short digit, Brachydactyly, Syndactyly, Short phalanx of finger, Camptodactyly, Oligodactyly, Fin... |
OMIM:610713 |
| Myoclonic-Astatic Epilepsy |
|
Syndactyly, Premature skin wrinkling |
ORPHA:1942 |
| Dermatosparaxis Ehlers-Danlos Syndrome |
|
Joint stiffness, Coxa vara, Coxa valga, Excessive wrinkled skin, Osteopenia, Osteomalacia, Osteop... |
ORPHA:1901 |
| Idiopathic Pulmonary Hemosiderosis |
|
Pulmonary infiltrates, Nodular pattern on pulmonary HRCT, Pallor, Crackles, Reticular pattern on ... |
ORPHA:99931 |
| Interstitial Pneumonitis, Desquamative, Familial |
|
Respiratory distress, Cor pulmonale, Cyanosis, Cough, Tachypnea, Respiratory failure |
OMIM:263000 |
| Nicolaides-Baraitser Syndrome |
|
Intrauterine growth retardation, Broad 2nd toe, Excessive wrinkled skin, Broad distal phalanx of ... |
OMIM:601358 |
| Catel-Manzke Syndrome |
|
Ventricular septal defect, Atrial septal defect |
ORPHA:1388 |
| Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome |
|
Respiratory distress |
ORPHA:171703 |
| Aspergillosis |
|
Asthma, Pulmonary infiltrates, Osteomyelitis, Sinusitis, Chronic pulmonary obstruction, Diffuse r... |
ORPHA:1163 |
| Hereditary Pulmonary Alveolar Proteinosis |
|
Crazy paving pattern, Respiratory distress, Crackles, Acute infectious pneumonia, Tachypnea, Resp... |
ORPHA:264675 |
| Fg Syndrome Type 1 |
|
Atrial septal defect, Generalized joint laxity, Craniosynostosis, Limited elbow extension and sup... |
ORPHA:93932 |
| Congenital Heart Defects, Multiple Types, 4 |
|
Aortic valve stenosis, Hypoplastic left heart, Atrioventricular canal defect, Tetralogy of Fallot... |
OMIM:615779 |
| X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Platyspondyly, Metaphyseal cupping of metacarpals, Abnormality of the calcaneus, Rhizomelia, Hypo... |
ORPHA:163966 |
| Sotos Syndrome |
|
Ventricular septal defect, Prolonged neonatal jaundice, Atrial septal defect, Muscular ventricula... |
OMIM:117550 |
| Autosomal Dominant Cutis Laxa |
|
Bronchiectasis, Prematurely aged appearance, Talipes equinovarus, Cutis laxa, Adducted thumb, Ost... |
ORPHA:90348 |
| Indomethacin Embryofetopathy |
|
Ventricular septal defect, Atrial septal defect, Cardiomyopathy |
ORPHA:1909 |
| Fontaine Progeroid Syndrome |
|
Reduced subcutaneous adipose tissue, Craniosynostosis, Platyspondyly, Intrauterine growth retarda... |
OMIM:612289 |
| Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities |
|
Respiratory insufficiency, Syndactyly, Neonatal death, Ventricular septal defect, Mesomelia, Hypo... |
OMIM:228940 |
| Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation |
|
Ventricular septal defect, Atrial septal defect |
OMIM:608227 |
| Thanatophoric Dysplasia, Type Ii |
|
Metaphyseal irregularity, Small abnormally formed scapulae, Hypoplastic ilia, Flared metaphysis, ... |
OMIM:187601 |
| Noonan Syndrome 11 |
|
Pulmonic stenosis, Palmoplantar cutis laxa, Hypertrophic cardiomyopathy, Atrial septal defect |
OMIM:618499 |
| Split-Hand/Foot Malformation 2 |
|
Split foot, Short phalanx of finger, Split hand, Short metacarpal, Finger syndactyly |
OMIM:313350 |
| Heyn-Sproul-Jackson Syndrome |
|
Broad metacarpals, Broad phalanx, Short phalanx of finger, Intrauterine growth retardation, Short... |
OMIM:618724 |
| Gaucher Disease Type 2 |
|
Respiratory distress, Abnormal pattern of respiration, Flexion contracture, Cough |
ORPHA:77260 |
| Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome |
|
Respiratory distress, Cyanosis, Hypertrophic cardiomyopathy |
ORPHA:91130 |
| Congenital Disorder Of Glycosylation, Type Iu |
|
Respiratory distress, Scoliosis, Death in infancy, Neonatal respiratory distress, Congenital cont... |
OMIM:615042 |
| Otospondylomegaepiphyseal Dysplasia |
|
Abnormally ossified vertebrae, Short neck, Platyspondyly, Flared femoral metaphysis, Sandal gap, ... |
ORPHA:1427 |
| Cataract-Intellectual Disability-Hypogonadism Syndrome |
|
Prematurely aged appearance, Abnormality of the hand, Scoliosis, Hyperlordosis, Ulnar deviation o... |
ORPHA:1387 |
| Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive |
|
Epiphyseal dysplasia, Beaking of vertebral bodies, Lumbar hyperlordosis, Short metacarpal, Flexio... |
OMIM:215150 |
| Hypertension And Brachydactyly Syndrome |
|
Cone-shaped epiphysis, Brachydactyly, Short phalanx of finger, Short metacarpal |
OMIM:112410 |
| Myasthenic Syndrome, Congenital, 4A, Slow-Channel |
|
Respiratory distress, Sudden episodic apnea, Respiratory insufficiency due to muscle weakness, Ap... |
OMIM:605809 |
| Opitz-Kaveggia Syndrome |
|
Multiple joint contractures, Lumbar hyperlordosis, Joint contracture of the hand, Prominent finge... |
OMIM:305450 |
| Staphylococcal Necrotizing Pneumonia |
|
Respiratory distress, Pulmonary infiltrates, Nonproductive cough, Pleural empyema, Acute infectio... |
ORPHA:36238 |
| Arthrogryposis, Distal, Type 2B1 |
|
Talipes equinovarus, Camptodactyly of finger, Scoliosis, Ulnar deviation of the wrist, Distal art... |
OMIM:601680 |
| Ventricular Septal Defect 3 |
|
Ventricular septal defect, Atrial septal defect |
OMIM:614432 |
| Short Chain Acyl-Coa Dehydrogenase Deficiency |
|
Respiratory distress, Intrauterine growth retardation, Cardiomyopathy |
ORPHA:26792 |
| Metaphyseal Chondrodysplasia, Kaitila Type |
|
Metaphyseal irregularity, Cone-shaped epiphyses of the phalanges of the hand, Short toe, Metaphys... |
OMIM:250230 |
| Spinal Muscular Atrophy, Distal, Autosomal Recessive, 6 |
|
Respiratory distress, Talipes equinovarus, Arthrogryposis-like hand anomaly, Paradoxical respirat... |
OMIM:620011 |
| Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked |
|
Respiratory distress, Dilated cardiomyopathy, Respiratory insufficiency due to muscle weakness |
OMIM:300580 |
| Ruvalcaba Syndrome |
|
Kyphosis, Small hand, Micromelia, Short phalanx of finger, Limited elbow extension, Scoliosis, Sh... |
OMIM:180870 |
| Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech |
|
Rhizo-meso-acromelic limb shortening, Short neck, Platyspondyly, Small epiphyses, Short long bone... |
OMIM:611717 |
| Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects |
|
Spina bifida occulta, Muscular ventricular septal defect |
OMIM:619227 |
| Orofaciodigital Syndrome Type 10 |
|
Mesomelic leg shortening, Short toe, Hypoplasia of proximal radius, Preaxial polydactyly, Short t... |
ORPHA:2756 |
| Smith-Mccort Dysplasia 2 |
|
Metaphyseal irregularity, Broad phalanx, Flattened femoral head, Platyspondyly, Broad femoral nec... |
OMIM:615222 |
| Severe X-Linked Mitochondrial Encephalomyopathy |
|
Respiratory distress, Respiratory insufficiency |
ORPHA:238329 |
| Mitochondrial Dna Depletion Syndrome, Myopathic Form |
|
Respiratory distress, Respiratory insufficiency, Scoliosis, Recurrent pneumonia, Ventilator depen... |
ORPHA:254875 |
| Infantile-Onset X-Linked Spinal Muscular Atrophy |
|
Respiratory distress, Hip contracture, Kyphoscoliosis, Respiratory insufficiency, Elbow flexion c... |
ORPHA:1145 |
| Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Respiratory distress, Respiratory insufficiency due to muscle weakness, Sleep apnea, Flexion cont... |
ORPHA:365 |
| Spondyloepimetaphyseal Dysplasia, X-Linked |
|
Broad phalanx, Cone-shaped epiphyses of the phalanges of the hand, Anterior wedging of T11, Platy... |
OMIM:300106 |
| B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Kyphoscoliosis, Aortic valve stenosis, Progeroid facial appearance, Flexion contracture, Cutis la... |
ORPHA:75496 |
| Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 1 |
|
Osteopenia, Crackles, Reticular pattern on pulmonary HRCT, Decreased DLCO, Cough, Dyspnea, Clubbi... |
OMIM:614742 |
| Diaphanospondylodysostosis |
|
Vertebral segmentation defect, Respiratory distress, Talipes equinovarus, Unossified sacrum, Trac... |
OMIM:608022 |
| Trichorhinophalangeal Syndrome, Type Iii |
|
Cone-shaped epiphyses of the middle phalanges of the hand, Osteopenia, Avascular necrosis of the ... |
OMIM:190351 |
| Congenital Pulmonary Lymphangiectasia |
|
Respiratory distress, Chylopericardium, Chronic pulmonary obstruction, Pulmonic stenosis, Cyanosi... |
ORPHA:2414 |
| Arthrogryposis, Perthes Disease, And Upward Gaze Palsy |
|
Pulmonic stenosis, Ventricular septal defect, Atrial septal defect |
OMIM:614262 |
| Myopathy And Diabetes Mellitus |
|
Respiratory distress, Shoulder girdle muscle weakness, Hyporeflexia of upper limbs, Achilles tend... |
ORPHA:2596 |
| Lissencephaly Syndrome, Norman-Roberts Type |
|
Respiratory distress, Atrial septal defect, Adducted thumb, Patent foramen ovale, Rocker bottom f... |
ORPHA:89844 |
| Xk Aprosencephaly Syndrome |
|
Ventricular septal defect, Atrial septal defect |
ORPHA:3469 |
| Bardet-Biedl Syndrome 16 |
|
Respiratory distress |
OMIM:615993 |
| Stüve-Wiedemann Syndrome |
|
Respiratory distress, Apnea, Flexion contracture of finger, Osteopenia, Micromelia, Genu valgum, ... |
ORPHA:3206 |
| Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Respiratory distress, Postaxial polydactyly, Hypoplasia of the radius, Hypoplastic ilia, Micromel... |
OMIM:617895 |
| 16P13.11 Microduplication Syndrome |
|
Ventricular septal defect, Atrial septal defect, Transposition of the great arteries, Tetralogy o... |
ORPHA:261243 |
| Rnf13-Related Severe Early-Onset Epileptic Encephalopathy |
|
Respiratory distress, Metacarpophalangeal joint contracture, Flexion contracture, Finger joint hy... |
ORPHA:544503 |
| Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome |
|
Ventricular septal defect, Spina bifida, Anencephaly, Hypoplastic left heart |
ORPHA:2476 |
| Congenital Tracheomalacia |
|
Apnea, Decreased peak expiratory flow, Ventricular septal defect, Pneumonia, Cardiomegaly, Abnorm... |
ORPHA:95430 |
| Congenital Disorder Of Glycosylation, Type Ie |
|
Telangiectasia, Respiratory distress, Small hand, Upper limb undergrowth, Camptodactyly, Knee fle... |
OMIM:608799 |
| Chromosome 8Q22.1 Duplication Syndrome |
|
Cervical C2/C3 vertebral fusion, Joint stiffness, Broad metacarpals, Short metatarsal, Short meta... |
OMIM:151200 |
| Sarcoidosis, Susceptibility To, 2 |
|
Bronchiectasis, Pulmonary infiltrates, Hypoxemia, Restrictive ventilatory defect, Emphysema, Pneu... |
OMIM:612387 |
| Brachydactyly-Arterial Hypertension Syndrome |
|
Brachydactyly, Short phalanx of finger, Short metacarpal |
ORPHA:1276 |
| Avian Influenza |
|
Respiratory distress, Pulmonary infiltrates, Miscarriage, Nonproductive cough, Ground-glass opaci... |
ORPHA:454836 |
| Cardiac-Valvular Ehlers-Danlos Syndrome |
|
Kyphoscoliosis, Atrial septal defect, Bruising susceptibility, Left ventricular hypertrophy, Poor... |
ORPHA:230851 |
| Peripheral Dysostosis |
|
Hip osteoarthritis, Cone-shaped epiphyses of the phalanges of the hand, Short phalanx of finger |
OMIM:170700 |
| Vertical Talus, Congenital |
|
Calcaneovalgus deformity, Rocker bottom foot, Equinus calcaneus, Arthritis |
OMIM:192950 |
| Progeroid Syndrome, Petty Type |
|
Short distal phalanx of finger, Reduced subcutaneous adipose tissue, Prematurely aged appearance,... |
ORPHA:2963 |
| Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
|
Flexion contracture, Respiratory insufficiency, Scoliosis, Hyperlordosis, Atelectasis, Aspiration... |
ORPHA:258 |
| Primary Non-Essential Cutis Verticis Gyrata |
|
Ventricular septal defect, Atrial septal defect |
ORPHA:357225 |
| Severe Acute Respiratory Syndrome |
|
Respiratory distress, Chronic lung disease, Acute infectious pneumonia, Respiratory failure requi... |
ORPHA:140896 |
| Acromesomelic Dysplasia 4 |
|
Broad phalanx, Platyspondyly, Broad finger, Genu valgum, Rhizomelia, Sandal gap, Prominent deltoi... |
OMIM:619636 |
| Choanal Atresia |
|
Respiratory distress, Tracheomalacia, Craniosynostosis, Cyanosis, Polydactyly, Abnormal nasal muc... |
ORPHA:137914 |
| Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Ventricular septal defect, Pallor, Atrial septal defect |
ORPHA:49827 |
| Osteoglophonic Dysplasia |
|
Broad metacarpals, Respiratory distress, Broad phalanx, Craniosynostosis, Short neck, Platyspondy... |
OMIM:166250 |
| Pulmonary Capillary Hemangiomatosis |
|
Interlobular septal thickening, Hypoxemia, Hemothorax, Cyanosis, Elevated pulmonary artery pressu... |
ORPHA:199241 |
| Ciliary Dyskinesia, Primary, 1 |
|
Situs inversus totalis, Chronic rhinitis, Atelectasis, Ciliary dyskinesia, Chronic sinusitis, Pne... |
OMIM:244400 |
| Desbuquois Dysplasia 2 |
|
Cutaneous syndactyly, Monkey wrench femoral neck, Short neck, Platyspondyly, Single transverse pa... |
OMIM:615777 |
| Wt Limb-Blood Syndrome |
|
Clinodactyly of the 5th finger, Absent thumb, Ulnar deviation of thumb, Ulnar deviation of the 3r... |
OMIM:194350 |
| Dilated Cardiomyopathy With Ataxia |
|
Dilated cardiomyopathy, Muscular ventricular septal defect |
ORPHA:66634 |
| Arterial Tortuosity Syndrome |
|
Respiratory distress, Telangiectasia of the skin, Craniosynostosis, Myocarditis, Abnormal myocard... |
ORPHA:3342 |
| Congenital Heart Defects, Multiple Types, 3 |
|
Atrial septal defect, Tetralogy of Fallot, Abnormal heart morphology |
OMIM:614954 |
| Congenital Contractures Of The Limbs And Face, Hypotonia, And Developmental Delay |
|
Hip contracture, Talipes equinovarus, Adducted thumb, Respiratory insufficiency, Short neck, Scol... |
OMIM:616266 |
| Campomelic Dysplasia |
|
Poorly ossified cervical vertebrae, Respiratory distress, Apnea, Femoral bowing, Short 1st metaca... |
OMIM:114290 |
| Hutchinson-Gilford Progeria Syndrome |
|
Abnormal mitral valve morphology, Limitation of movement at ankles, Lack of skin elasticity, Vent... |
ORPHA:740 |
| Arthrogryposis, Distal, Type 3 |
|
Overlapping toe, Decreased hip abduction, Lumbar hyperlordosis, Talipes equinovarus, Kyphoscolios... |
OMIM:114300 |
| Alg12-Cdg |
|
Redundant skin, Biventricular hypertrophy, Patent foramen ovale, Muscular ventricular septal defect |
ORPHA:79324 |
| Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs |
|
Respiratory distress, Delayed epiphyseal ossification, Absent ossification of capital femoral epi... |
ORPHA:226313 |
| Coenzyme Q10 Deficiency, Primary, 8 |
|
Respiratory distress, Left ventricular hypertrophy, Intrauterine growth retardation, Flexion cont... |
OMIM:616733 |
| Spinal muscular atrophy, type I, with congenital bone fractures |
|
Respiratory distress, Flexion contracture, Arachnodactyly, Osteopenia, Congenital hip dislocation... |
OMIM:271225 |
| Hyperparathyroidism, Transient Neonatal |
|
Respiratory distress, Osteopenia, Femoral bowing |
OMIM:618188 |
| Ulnar/Fibula Ray Defect-Brachydactyly Syndrome |
|
Atrial septal defect |
ORPHA:52056 |
| Pleural Mesothelioma |
|
Respiratory distress, Cough, Pleural effusion, Dyspnea, Abnormal respiratory system physiology |
ORPHA:50251 |
| Congenital Vertical Talus |
|
Distal arthrogryposis, Achilles tendon contracture, Equinus calcaneus, Rocker bottom foot |
ORPHA:178382 |
| Neurooculocardiogenitourinary Syndrome |
|
Atrial septal defect, Ventricular septal defect, Patent foramen ovale, Cardiomegaly, Redundant ne... |
OMIM:618652 |
| Anti-Glomerular Basement Membrane Disease |
|
Pulmonary infiltrates, Respiratory insufficiency, Cough, Arthritis, Purpura |
ORPHA:375 |
| Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations |
|
Tricuspid stenosis, Short neck, Hypoplasia of the capital femoral epiphysis, Ventricular septal d... |
OMIM:143095 |
| Three M Syndrome 3 |
|
Increased vertebral height, Clinodactyly of the 5th finger, Short neck, Slender long bone, Promin... |
OMIM:614205 |
| Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence |
|
Respiratory distress, Abnormal cardiac septum morphology, Tracheomalacia, Short neck, Brachydacty... |
OMIM:217980 |
| Short Stature, Developmental Delay, And Congenital Heart Defects |
|
Ventricular septal defect, Atrial septal defect, Patent foramen ovale |
OMIM:617044 |
| Laron Syndrome |
|
Short toe, Prematurely aged appearance, Osteoarthritis, Brachydactyly, Abnormality of the elbow |
ORPHA:633 |
| Greenberg Dysplasia |
|
Anterior rib punctate calcifications, Horizontal sacrum, Platyspondyly, Micromelia, Rhizomelia, T... |
OMIM:215140 |
| Atrial Septal Defect 8 |
|
Anomalous pulmonary venous return, Atrial septal defect |
OMIM:614433 |
| Neuropathy, Congenital, With Arthrogryposis Multiplex |
|
Calcaneovalgus deformity, Arthrogryposis multiplex congenita, Hyperlordosis |
OMIM:162370 |
| Acute Lung Injury |
|
Respiratory distress, Pulmonary infiltrates, Tachypnea, Pneumonia, Hypoxemia, Dyspnea, Respirator... |
ORPHA:178320 |
| Relapsing Polychondritis |
|
Abnormal aortic valve morphology, Erythema, Myocarditis, Arthritis, Cough, Abnormal pattern of re... |
ORPHA:728 |
| Diffuse Alveolar Hemorrhage |
|
Irregular septal thickening on pulmonary HRCT, Airway obstruction, Pulmonary venous hypertension,... |
ORPHA:90060 |
| Bardet-Biedl Syndrome 2 |
|
Bicuspid aortic valve, Dilated cardiomyopathy, Atrial septal defect |
OMIM:615981 |
| Atelosteogenesis Type Ii |
|
Broad phalanx, Short neck, Micromelia, Rhizomelic arm shortening, Upper limb undergrowth, Dumbbel... |
ORPHA:56304 |
| Restrictive Dermopathy 2 |
|
Respiratory distress, Short clavicles, Cyanosis, Overtubulated long bones, Intrauterine growth re... |
OMIM:619793 |
| Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome |
|
Excessive wrinkled skin, Recurrent fractures, Upper limb asymmetry, Reduced bone mineral density |
ORPHA:137608 |
| Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1 |
|
Kyphoscoliosis, Talipes equinovarus, Bruising susceptibility, Arachnodactyly, Osteopenia, Palmopl... |
OMIM:225400 |
| Polydactyly, Postaxial, With Dental And Vertebral Anomalies |
|
Spinal canal stenosis, Kyphoscoliosis, Clinodactyly of the 5th finger, 2-3 toe syndactyly, Hypopl... |
OMIM:263540 |
| Lujo Hemorrhagic Fever |
|
Respiratory distress, Rhinitis, Nonproductive cough, Crackles, Myocarditis, Atelectasis, Purpura,... |
ORPHA:319213 |
| Fanconi Anemia, Complementation Group O |
|
Miscarriage, Absent thumb, Hypoplasia of the radius, Small thenar eminence, Neonatal death, Death... |
OMIM:613390 |
| Succinic Acidemia |
|
Respiratory distress |
OMIM:600335 |
| Shwachman-Diamond Syndrome 1 |
|
Respiratory distress, Coxa vara, Metaphyseal chondrodysplasia, Narrow greater sciatic notch, Meta... |
OMIM:260400 |
| Chronic Beryllium Disease |
|
Reduced FEV1/FVC ratio, Lymphocytic interstitial pneumonia, Respiratory insufficiency, Ground-gla... |
ORPHA:133 |
| Tularemia |
|
Respiratory distress, Pulmonary infiltrates, Cough, Abnormal pulmonary thoracic imaging finding, ... |
ORPHA:3392 |
| Chromosome 15Q14 Deletion Syndrome |
|
Ventricular septal defect, Atrial septal defect |
OMIM:616898 |
| Campomelia, Cumming Type |
|
Prematurely aged appearance, Abnormally ossified vertebrae, Brachydactyly, Micromelia, Death in i... |
ORPHA:1318 |
| Ogden Syndrome |
|
Apnea, Congenital hip dislocation, Short neck, Ventricular septal defect, Broad hallux, Sandal ga... |
OMIM:300855 |
| Radio-Renal Syndrome |
|
Respiratory distress, Chylothorax, Hypoplasia of the radius, Short neck, Brachydactyly, Micromeli... |
ORPHA:3015 |
| Combined Oxidative Phosphorylation Deficiency 19 |
|
Respiratory distress |
OMIM:615595 |
| Dwarfism With Stiff Joints And Ocular Abnormalities |
|
Joint stiffness, Delayed ossification of carpal bones, Short phalanx of finger, Short lower limbs... |
OMIM:127200 |
| Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
|
Distal shortening of limbs, Metaphyseal cupping of proximal phalanges, Metaphyseal cupping, Platy... |
OMIM:300863 |
| Atrial Septal Defect 6 |
|
Atrial septal defect |
OMIM:613087 |
| Shashi-Pena Syndrome |
|
Atrial septal defect |
OMIM:617190 |
| Larsen Syndrome |
|
Ventricular septal defect, Intrauterine growth retardation, Elbow dislocation, Talipes equinovaru... |
OMIM:150250 |
| Cutis Laxa, Autosomal Recessive, Type Iiib |
|
Flexion contracture, Cutis laxa, Excessive wrinkled skin, Osteopenia, Osteoporosis, Prominent sup... |
OMIM:614438 |
| Polysyndactyly With Cardiac Malformation |
|
Ventricular septal defect, Stillbirth, Atrial septal defect |
OMIM:263630 |
| Meckel Syndrome, Type 4 |
|
Hydrocephalus, Atrial septal defect, Anencephaly, Ventricular septal defect, Meningocele, Encepha... |
OMIM:611134 |
| Beta-Mercaptolactate Cysteine Disulfiduria |
|
Atrial septal defect, Dry skin, Umbilical hernia |
ORPHA:1035 |
| Brachydactyly, Type E, With Atrial Septal Defect, Type Ii |
|
Atrial septal defect |
OMIM:113301 |
| Gaucher Disease, Type I |
|
Pulmonary infiltrates, Aortic valve stenosis, Pathologic fracture, Vertebral compression fracture... |
OMIM:230800 |
| Li-Campeau Syndrome |
|
Ventricular septal defect, Atrial septal defect, Patent foramen ovale |
OMIM:619189 |
| Linear Skin Defects With Multiple Congenital Anomalies 2 |
|
Ventricular hypertrophy, Atrial septal defect, Tetralogy of Fallot |
OMIM:300887 |
| Hadziselimovic Syndrome |
|
Ventricular septal defect, Ventricular hypertrophy, Atrial septal defect, Tetralogy of Fallot |
OMIM:612946 |
| Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Aortic valve stenosis, Mitral valve calcification, Premature skin wrinkling, Ventricular hypertro... |
ORPHA:363618 |
| Arthrogryposis, Distal, Type 5D |
|
Talipes equinovarus, Adducted thumb, Short neck, Scoliosis, Camptodactyly, Hyperlordosis, Elbow f... |
OMIM:615065 |
| Ritscher-Schinzel Syndrome 1 |
|
Double outlet right ventricle, Hydrocephalus, Aortic valve stenosis, Atrial septal defect, Hypopl... |
OMIM:220210 |
| Hypereosinophilic Syndrome, Idiopathic |
|
Restrictive cardiomyopathy, Pulmonary infiltrates, Endocardial fibrosis |
OMIM:607685 |
| Classical-Like Ehlers-Danlos Syndrome Type 2 |
|
Osteopenia, Hammertoe, Phalangeal dislocation, Sandal gap, Sacral dimple, Elbow dislocation, Shou... |
ORPHA:536532 |
| Arthrogryposis Multiplex Congenita 6 |
|
Adducted thumb, Death in childhood, Neonatal death, Death in infancy, Arthrogryposis multiplex co... |
OMIM:619334 |
| Atrial Septal Defect 1 |
|
Bicuspid aortic valve, Aortic valve stenosis, Secundum atrial septal defect, Atrial septal defect... |
OMIM:108800 |
| Acromesomelic Dysplasia 3 |
|
Carpal synostosis, Short toe, Talipes equinovarus, Bilateral talipes equinovarus, Short 1st metac... |
OMIM:609441 |
| Aortic Valve Disease 3 |
|
Bicuspid aortic valve, Aortic valve stenosis, Atrial septal defect |
OMIM:618496 |
| Pulmonary Alveolar Microlithiasis |
|
Interlobular septal thickening, Oxygen desaturation on exertion, Pulmonary infiltrates, Bronchiec... |
ORPHA:60025 |
| Right Atrial Isomerism |
|
Atrial septal defect, Pulmonic stenosis, Single ventricle, Right atrial isomerism, Tetralogy of F... |
OMIM:208530 |
| Scedosporiosis |
|
Bronchial breath sound, Sinusitis, Osteomyelitis, Apical pulmonary opacity, Pleural empyema, Endo... |
ORPHA:449280 |
| Pfeiffer Syndrome Type 2 |
|
Respiratory distress, Tracheomalacia, Small hand, Broad hallux phalanx, Short hallux, Deviation o... |
ORPHA:93259 |
| Congenital Laryngeal Web |
|
Respiratory distress, Abnormal cardiac septum morphology, Stridor |
ORPHA:2374 |
| Brown-Vialetto-Van Laere Syndrome 1 |
|
Respiratory distress, Kyphosis, Respiratory insufficiency, Hand muscle atrophy, Scoliosis, Noctur... |
OMIM:211530 |
| Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema |
|
Respiratory distress, Angioedema, Erythema, Upper airway obstruction |
ORPHA:100057 |
| Meier-Gorlin Syndrome 1 |
|
Respiratory distress, Absent glenoid fossa, Hemivertebrae, Genu valgum, Intrauterine growth retar... |
OMIM:224690 |
| De Barsy Syndrome |
|
Prominent veins on trunk, Coxa vara, Kyphoscoliosis, Talipes equinovarus, Progeroid facial appear... |
ORPHA:2962 |
| 8Q12 Microduplication Syndrome |
|
Ventricular septal defect, Atrial septal defect |
ORPHA:228399 |
| Wiedemann-Rautenstrauch Syndrome |
|
Reduced subcutaneous adipose tissue, Short neck, Pneumonia, Intrauterine growth retardation, Prem... |
OMIM:264090 |
| Myopathy, Congenital, Nonprogressive |
|
Atrial septal defect, Patent foramen ovale |
OMIM:619967 |
| Keppen-Lubinsky Syndrome |
|
Progeroid facial appearance, Flexion contracture, Respiratory insufficiency, Scoliosis, Upper air... |
ORPHA:435628 |
| Congenitally Uncorrected Transposition Of The Great Arteries |
|
Abnormal pulmonary valve morphology, Abnormal mitral valve morphology, Anomalous pulmonary venous... |
ORPHA:860 |
| Pneumocystosis |
|
Hypoxemia, Nonproductive cough, Respiratory insufficiency, Interstitial pneumonitis, Acute infect... |
ORPHA:723 |
| 46,Xx Sex Reversal 5 |
|
Ventricular septal defect, Secundum atrial septal defect, Hypoplastic left heart |
OMIM:618901 |
| Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Cone-shaped epiphyses of the phalanges of the hand, Short neck, Platyspondyly, Myocarditis, Rhizo... |
OMIM:250220 |
| Renal Dysplasia-Limb Defects Syndrome |
|
Aplasia of the ulna, Respiratory distress, Short sternum, Talipes equinovarus, Short metacarpal, ... |
OMIM:266910 |
| Laryngomalacia |
|
Respiratory distress, Congenital laryngeal stridor |
OMIM:150280 |
| Diffuse Cutaneous Systemic Sclerosis |
|
Telangiectasia of the skin, Pulmonary infiltrates, Narrow foramen obturatorium, Flexion contractu... |
ORPHA:220393 |
| Neonatal Acute Respiratory Distress Due To Sp-B Deficiency |
|
Pulmonary infiltrates, Right ventricular hypertrophy, Interstitial pneumonitis, Chronic lung dise... |
ORPHA:217563 |
| Wrinkly Skin Syndrome |
|
Coxa vara, Kyphosis, Intrauterine growth retardation, Talipes equinovarus, Progeroid facial appea... |
OMIM:278250 |
| Progeria-Short Stature-Pigmented Nevi Syndrome |
|
Short distal phalanx of finger, Multiple joint contractures, Thoracic scoliosis, Progeroid facial... |
ORPHA:2959 |
| Seckel Syndrome |
|
Intrauterine growth retardation, Clinodactyly of the 5th finger, Prematurely aged appearance, Cra... |
ORPHA:808 |
| Wiedemann-Rautenstrauch Syndrome |
|
Reduced subcutaneous adipose tissue, Progeroid facial appearance, Osteopenia, Atlantoaxial abnorm... |
ORPHA:3455 |
| Chitayat Syndrome |
|
Respiratory distress, Hallux valgus, Brachydactyly, Tracheomalacia |
OMIM:617180 |
| Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly |
|
Muscular ventricular septal defect |
OMIM:618569 |
| Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness |
|
Epiphyseal dysplasia, Brachydactyly, Short phalanx of finger, Genu valgum, Coxa valga |
OMIM:132450 |
| Pde4D Haploinsufficiency Syndrome |
|
Broad metacarpals, Irregular vertebral endplates, Broad phalanx, Short toe, Short metatarsal, Con... |
ORPHA:439822 |
| Synaptic Congenital Myasthenic Syndromes |
|
Respiratory distress, Sleep apnea, Hand muscle weakness, Talipes equinovarus, Right ventricular h... |
ORPHA:98915 |
| Cleidocranial Dysplasia 1 |
|
Respiratory distress, Cone-shaped epiphyses of the phalanges of the hand, Spondylolisthesis, Incr... |
OMIM:119600 |
| Episodic Ataxia Type 1 |
|
Respiratory distress, Kyphoscoliosis, Hand clenching, Scoliosis |
ORPHA:37612 |
| Eosinophilia, Familial |
|
Pulmonary infiltrates, Myocardial eosinophilic infiltration |
OMIM:131400 |
| Dislocation Of Hip, Congenital, With Hyperextensibility Of Fingers And Facial Dysmorphism |
|
Atrial septal defect, Patent foramen ovale |
OMIM:601450 |
| Heterotaxy, Visceral, 7, Autosomal |
|
Abnormal cardiac septum morphology, Atrial septal defect, Atrioventricular canal defect, Cyanosis... |
OMIM:616749 |
| Progressive Supranuclear Palsy-Corticobasal Syndrome |
|
Respiratory distress, Hand clenching |
ORPHA:240103 |
| Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency |
|
Respiratory distress, Ventilator dependence with inability to wean, Respiratory failure requiring... |
ORPHA:254864 |
| Lymphoid Interstitial Pneumonia |
|
Pulmonary venous hypertension, Hypoxemia, Rheumatoid arthritis, Crackles, Parenchymal consolidati... |
ORPHA:79128 |
| Autosomal Recessive Cutis Laxa Type 2A |
|
Progeroid facial appearance, Excessive wrinkled skin, Congenital hip dislocation, Increased susce... |
ORPHA:357058 |
| Acromesomelic Dysplasia 2B |
|
Short metatarsal, Brachydactyly, Short phalanx of finger, Deviation of finger, Rhizomelia, Deform... |
OMIM:228900 |
| Weaver Syndrome |
|
Prominent fingertip pads, Short fourth metatarsal, Single transverse palmar crease, Flared humera... |
OMIM:277590 |
| Noonan Syndrome 8 |
|
Atrial septal defect, Pulmonic stenosis, Left ventricular hypertrophy, Palmoplantar cutis laxa, V... |
OMIM:615355 |
| Nestor-Guillermo Progeria Syndrome |
|
Joint stiffness, Right atrial enlargement, Progeroid facial appearance, Flexion contracture, Scol... |
OMIM:614008 |
| Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities |
|
Respiratory distress, Overlapping toe, Atrial septal defect, Flexion contracture, Overlapping fin... |
OMIM:619383 |
| 22Q11.2 Deletion Syndrome |
|
Tricuspid atresia, Short neck, Ventricular septal defect, Intrauterine growth retardation, Talipe... |
ORPHA:567 |
| Tetrasomy 5P |
|
Respiratory distress, Overlapping toe, Clinodactyly of the 5th finger, Talipes equinovarus, Cyano... |
ORPHA:3309 |
| Ehlers-Danlos Syndrome, Cardiac Valvular Type |
|
Mitral valve prolapse, Joint laxity, Calcaneovalgus deformity, Bruising susceptibility |
OMIM:225320 |
| Zygomycosis |
|
Pulmonary infiltrates, Sinusitis, Air crescent sign, Endocarditis, Myocarditis, Parenchymal conso... |
ORPHA:73263 |
| Thanatophoric Dysplasia Type 2 |
|
Hydrocephalus, Atrial septal defect, Holoprosencephaly, Redundant skin, Encephalocele |
ORPHA:93274 |
| Autism Spectrum Disorder Due To Auts2 Deficiency |
|
Atrial septal defect, Umbilical hernia, Abnormal heart morphology |
ORPHA:352490 |
| Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Death in childhood, Respiratory insufficiency, Tachypnea, Atelectasis, Ventricular hypertrophy, R... |
OMIM:618278 |
| Li-Ghorbani-Weisz-Hubshman Syndrome |
|
Ventricular septal defect, Atrial septal defect |
OMIM:618974 |
| Chromosome 6Q24-Q25 Deletion Syndrome |
|
Respiratory distress, Atrial septal defect, Dysplastic pulmonary valve, Prominent fingertip pads,... |
OMIM:612863 |
| Cardiac Septal Defects With Coarctation Of The Aorta |
|
Secundum atrial septal defect, Perimembranous ventricular septal defect |
OMIM:212090 |
| Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Metaphyseal irregularity, Coxa vara, Bowing of the legs, Metaphyseal spurs, Short metacarpal, Nar... |
ORPHA:85167 |
| Malaria |
|
Respiratory distress |
ORPHA:673 |
| Satb2-Associated Syndrome Due To A Chromosomal Rearrangement |
|
Tibial bowing, Clinodactyly of the 5th finger, Talipes equinovarus, Slender finger, Lumbar hyperl... |
ORPHA:251028 |
| Atelosteogenesis, Type I |
|
Aplasia/Hypoplasia of the ulna, Short neck, Rhizomelia, Multinucleated giant chondrocytes in epip... |
OMIM:108720 |
| Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects |
|
Secundum atrial septal defect, Left ventricular hypertrophy, Tetralogy of Fallot, Ventricular sep... |
OMIM:108900 |
| Formiminoglutamic Aciduria |
|
Atrial septal defect |
ORPHA:51208 |
| Hypertelorism And Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Mental Retardation, And Recurrent Inflammatory Episodes |
|
Small hand, Broad finger, Short phalanx of finger, Brachydactyly, Clinodactyly, Pericardial effusion |
OMIM:614684 |
| Ciliary Dyskinesia, Primary, 2 |
|
Respiratory distress, Sinusitis, Situs inversus totalis, Dextrocardia, Ciliary dyskinesia, Bronch... |
OMIM:606763 |
| Congenital Myasthenic Syndrome |
|
Kyphoscoliosis, Episodic respiratory distress, Spinal rigidity, Respiratory arrest, Central sleep... |
ORPHA:590 |
| Presynaptic Congenital Myasthenic Syndromes |
|
Kyphoscoliosis, Episodic respiratory distress, Spinal rigidity, Respiratory arrest, Central sleep... |
ORPHA:98914 |
| Frontometaphyseal Dysplasia |
|
Limitation of movement at ankles, Craniosynostosis, Limitation of knee mobility, Single transvers... |
ORPHA:1826 |
| Cardiofaciocutaneous Syndrome 3 |
|
Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Hypertrophic cardiomyopathy |
OMIM:615279 |
| Immunodeficiency 27A |
|
Pulmonary infiltrates, Hypoplasia of the femoral head, Abnormal bronchus physiology, Pneumonia, S... |
OMIM:209950 |
| 14Q24.1Q24.3 Microdeletion Syndrome |
|
Ventricular septal defect, Atrial septal defect, Truncus arteriosus, Abnormal heart morphology |
ORPHA:401935 |
| Barber-Say Syndrome |
|
Clinodactyly of the 5th finger, Talipes equinovarus, Redundant skin, Brachydactyly, Dry skin, Pre... |
OMIM:209885 |
| Lymphangioleiomyomatosis |
|
Pulmonary infiltrates, Chylopericardium, Chylothorax, Cough, Atelectasis, Restrictive ventilatory... |
ORPHA:538 |
| Werner Syndrome |
|
Joint stiffness, Telangiectasia of the skin, Miscarriage, Prematurely aged appearance, Increased ... |
ORPHA:902 |
| Lenz-Majewski Hyperostotic Dwarfism |
|
Short palm, Kyphosis, Abnormality of finger, Prematurely aged appearance, Increased bone mineral ... |
ORPHA:2658 |
| Heterotaxy, Visceral, 6, Autosomal |
|
Double outlet right ventricle, Hypoplastic left heart, Unbalanced atrioventricular canal defect, ... |
OMIM:614779 |
| Three M Syndrome 2 |
|
Lumbar hyperlordosis, Short neck, Short 5th finger, Slender long bone, Prominent calcaneus, Hyper... |
OMIM:612921 |
| Combined Osteogenesis Imperfecta And Ehlers-Danlos Syndrome 1 |
|
Dermal translucency, Poor wound healing, Atrial septal defect, Bruising susceptibility |
OMIM:619115 |
| Congenital Disorder Of Glycosylation, Type Ix |
|
Respiratory distress, Death in childhood, Intrauterine growth retardation |
OMIM:615597 |
| Fetal Trimethadione Syndrome |
|
Ventricular septal defect, Atrial septal defect, Transposition of the great arteries, Tetralogy o... |
ORPHA:1913 |
| Acrootoocular Syndrome |
|
Short toe, Decreased palmar creases, Kyphoscoliosis, Abnormal finger flexion creases, Palmar hype... |
ORPHA:2980 |
| Noonan Syndrome With Multiple Lentigines |
|
Abnormal pulmonary valve morphology, Abnormal mitral valve morphology, Atrioventricular canal def... |
ORPHA:500 |
| Congenital Heart Defects, Multiple Types, 6 |
|
Double outlet right ventricle, Secundum atrial septal defect, Pulmonic stenosis, Single ventricle... |
OMIM:613854 |
| Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Ventricular septal defect, Atrial septal defect, Cardiomyopathy, Situs inversus totalis |
OMIM:249270 |
| Larsen-Like Syndrome |
|
Kyphoscoliosis, Clinodactyly of the 5th finger, Talipes equinovarus, Bipartite calcaneus, Joint l... |
OMIM:608545 |
| Focal Facial Dermal Dysplasia Type Iii |
|
Redundant skin, Prematurely aged appearance, Abnormal sacroiliac joint morphology |
ORPHA:1807 |
| Mucopolysaccharidosis-Plus Syndrome |
|
Respiratory distress, Atrial septal defect, Flared iliac wing, Flexion contracture, Metaphyseal w... |
OMIM:617303 |
| Oculocerebrorenal Syndrome Of Lowe |
|
Recurrent fractures, Joint stiffness, Kyphosis, Respiratory insufficiency, Platyspondyly, Osteoma... |
ORPHA:534 |
| Severe X-Linked Intellectual Disability, Gustavson Type |
|
Congenital hip dislocation, Apneic episodes in infancy, Ventricular septal defect, Triphalangeal ... |
ORPHA:3078 |
| Symphalangism, Distal, With Microdontia, Dental Pulp Stones, And Narrowed Zygomatic Arch |
|
Short distal phalanx of finger, Absent trapezoid bone, Cone-shaped epiphyses of the middle phalan... |
OMIM:606895 |
| Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies |
|
Double outlet right ventricle, Atrial septal defect, Tetralogy of Fallot, Ventricular septal defe... |
OMIM:618316 |
| Pfeiffer Syndrome Type 3 |
|
Respiratory distress, Tracheomalacia, Small hand, Broad hallux phalanx, Short hallux, Broad thumb... |
ORPHA:93260 |
| Immunodeficiency, Developmental Delay, And Hypohomocysteinemia |
|
Bicuspid aortic valve, Atrial septal defect |
OMIM:617744 |
| Surfactant Metabolism Dysfunction, Pulmonary, 5 |
|
Interlobular septal thickening, Respiratory insufficiency, Ground-glass opacification, Dyspnea, E... |
OMIM:614370 |
| Pseudoxanthoma Elasticum |
|
Telangiectasia of the skin, Bruising susceptibility, Restrictive cardiomyopathy, Excessive wrinkl... |
ORPHA:758 |
| Mitochondrial Pyruvate Carrier Deficiency |
|
Respiratory distress |
OMIM:614741 |
| Niemann-Pick Disease, Type B |
|
Dyspnea, Decreased DLCO, Diffuse reticular or finely nodular infiltrations |
OMIM:607616 |
| Cystic Echinococcosis |
|
Asthma, Urticaria, Bone cyst, Abnormality of the vertebral column, Abnormal pulmonary thoracic im... |
ORPHA:400 |
| Acrodysostosis 2 With Or Without Hormone Resistance |
|
Spinal canal stenosis, Cone-shaped epiphysis, Brachydactyly, Short phalanx of finger, Short metat... |
OMIM:614613 |
| Chromosome 17Q23.1-Q23.2 Deletion Syndrome |
|
Bicuspid aortic valve, Atrial septal defect |
OMIM:613355 |
| Congenital Lobar Emphysema |
|
Respiratory distress, Emphysema |
ORPHA:1928 |
| Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion |
|
Respiratory distress, Apnea, Aspiration pneumonia, Polydactyly, Recurrent pneumonia, Hypoventilat... |
ORPHA:314655 |
| Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Short distal phalanx of finger, Prematurely aged appearance, Progeroid facial appearance, Flexion... |
ORPHA:90153 |
| Ataxia-Telangiectasia |
|
Telangiectasia of the skin, Premature graying of hair, Prematurely aged appearance, Mucosal telan... |
ORPHA:100 |
| Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
|
Bicuspid aortic valve, Anomalous pulmonary venous return, Atrial septal defect, Atrioventricular ... |
ORPHA:1120 |
| Diamond-Blackfan Anemia 6 |
|
Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Mitral valve prolapse, Vent... |
OMIM:612561 |
| Ablepharon-Macrostomia Syndrome |
|
Clinodactyly of the 5th finger, Talipes equinovarus, Redundant skin, Dry skin, Camptodactyly, Pre... |
OMIM:200110 |
| Majeed Syndrome |
|
Metaphyseal irregularity, Pulmonary infiltrates, Osteomyelitis, Increased bone mineral density, F... |
ORPHA:77297 |
| Recombinant Chromosome 8 Syndrome |
|
Double outlet right ventricle, Atrial septal defect, Pulmonic stenosis, Tetralogy of Fallot, Vent... |
OMIM:179613 |
| Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism |
|
Small hand, Broad finger, Short phalanx of finger, Abnormal left ventricle morphology, Abnormal h... |
OMIM:300845 |
| Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome |
|
Atrial septal defect, Frontal encephalocele |
ORPHA:521308 |
| Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome |
|
Respiratory distress, Atrial septal defect, Ventricular septal defect, Postaxial hand polydactyly... |
ORPHA:2519 |
| White Forelock With Malformations |
|
Atrial septal defect, Spina bifida occulta |
ORPHA:2475 |
| Mcdonough Syndrome |
|
Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Aortic valve stenosis |
OMIM:248950 |
| Gaucher Disease, Perinatal Lethal |
|
Respiratory distress, Apnea, Petechiae, Neonatal death, Purpura, Arthrogryposis multiplex congeni... |
OMIM:608013 |
| Cutis Laxa, Autosomal Dominant 1 |
|
Prematurely aged appearance, Progeroid facial appearance, Cutis laxa, Redundant skin, Poor wound ... |
OMIM:123700 |
| Cardiofaciocutaneous Syndrome |
|
Atrial septal defect, Abnormal morphology of ulna, Pulmonic stenosis, Deep palmar crease, Excessi... |
ORPHA:1340 |
| Absence Of The Pulmonary Artery |
|
Abnormal cardiac septum morphology, Atrial septal defect, Nonproductive cough, Cyanosis, Tetralog... |
ORPHA:980 |
| Autosomal Recessive Cutis Laxa Type 2, Classic Type |
|
Prominent veins on trunk, Cutis laxa, Generalized joint laxity, Excessive wrinkled skin, Redundan... |
ORPHA:357074 |
| Progressive Supranuclear Palsy-Parkinsonism Syndrome |
|
Respiratory distress |
ORPHA:240085 |
| Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria |
|
Respiratory distress, Multiple joint contractures, Broad carpal bones, Short neck, Metaphyseal ch... |
ORPHA:99646 |
| Congenital Rubella Syndrome |
|
Ventricular septal defect, Atrial septal defect, Jaundice |
ORPHA:290 |
| Heterotaxy, Visceral, 4, Autosomal |
|
Atrioventricular canal defect, Dextrotransposition of the great arteries, Ventricular septal defe... |
OMIM:613751 |
| Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Short clavicles, Progeroid facial appearance, Flexion contracture, Acroosteolysis of distal phala... |
OMIM:608612 |
| Wiedemann-Steiner Syndrome |
|
Short toe, Clinodactyly of the 5th finger, Short phalanx of finger, Tapered finger, Short middle ... |
OMIM:605130 |
| Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted |
|
Respiratory distress, Atrial septal defect, Postaxial polydactyly, Small hand, Scoliosis, Tapered... |
OMIM:300968 |
| Surfactant Metabolism Dysfunction, Pulmonary, 4 |
|
Reduced forced expiratory volume in one second, Reduced forced vital capacity, Decreased DLCO, Ta... |
OMIM:300770 |
| Feingold Syndrome Type 1 |
|
Tricuspid atresia, Multiple muscular ventricular septal defects, Tricuspid stenosis, Abnormal hea... |
ORPHA:391641 |
| Short Syndrome |
|
Excessive wrinkled skin, Short palm, Brachydactyly, Joint hyperflexibility |
ORPHA:3163 |
| Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Craniosynostosis, Hypoplasia of the radius, Short neck, Hypoplasia of the ulna, Talipes equinovar... |
OMIM:609945 |
| Congenital Pulmonary Valvar Stenosis |
|
Atrial septal defect |
ORPHA:3189 |
| Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Short distal phalanx of finger, Prematurely aged appearance, Progeroid facial appearance, Abnorma... |
ORPHA:90154 |
| Microcephaly-Capillary Malformation Syndrome |
|
Ventricular septal defect, Atrial septal defect, Patent foramen ovale, Right ventricular hypertrophy |
OMIM:614261 |
| Thanatophoric Dysplasia |
|
Redundant skin, Hydrocephalus, Atrial septal defect |
ORPHA:2655 |
| Lessel-Kreienkamp Syndrome |
|
Pulmonic stenosis, Bicuspid aortic valve, Atrial septal defect, Patent foramen ovale |
OMIM:619149 |
| Mental Retardation, Buenos Aires Type |
|
Hydrocephalus, Atrial septal defect |
OMIM:249630 |
| Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy) |
|
Respiratory distress |
OMIM:612075 |
| X-Linked Intellectual Disability, Hedera Type |
|
Left ventricular hypertrophy, Hyporeflexia of upper limbs, Scoliosis, Calcaneovalgus deformity |
ORPHA:93952 |
| Ehlers-Danlos Syndrome, Dermatosparaxis Type |
|
Short toe, Bruising susceptibility, Osteopenia, Redundant skin, Micromelia, Short phalanx of fing... |
OMIM:225410 |
| Folinic Acid-Responsive Seizures |
|
Respiratory distress, Apnea |
ORPHA:79097 |
| X-Linked Centronuclear Myopathy |
|
Respiratory distress, Pneumonia, Respiratory failure requiring assisted ventilation |
ORPHA:596 |
| Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
|
Respiratory distress, Flexion contracture, Respiratory insufficiency, Generalized abnormality of ... |
ORPHA:367 |
| Eosinophilic Granulomatosis With Polyangiitis |
|
Asthma, Pulmonary infiltrates, Urticaria, Sinusitis, Abnormal pericardium morphology, Cutis marmo... |
ORPHA:183 |
| Hypermethioninemia Due To Adenosine Kinase Deficiency |
|
Pulmonic stenosis, Atrial septal defect |
OMIM:614300 |
| Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Craniosynostosis, Severe platyspondyly, Sacral dimple, Narrow greater sciatic notch, Increased in... |
ORPHA:508533 |
| Timothy Syndrome |
|
Ventricular septal defect, Tetralogy of Fallot, Patent foramen ovale, Cardiomegaly |
OMIM:601005 |
| Microlissencephaly-Micromelia Syndrome |
|
Respiratory distress, Adducted thumb, Short neck, Bilateral single transverse palmar creases, Mic... |
ORPHA:50810 |
| 15Q11.2 Microdeletion Syndrome |
|
Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Total anomalous pulmonary v... |
ORPHA:261183 |
| Slc35A1-Cdg |
|
Respiratory distress, Hypoxemia, Subcutaneous hemorrhage, Pneumonia |
ORPHA:238459 |
| Focal Facial Dermal Dysplasia 3, Setleis Type |
|
Aged leonine appearance |
OMIM:227260 |
| Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type |
|
Bilateral talipes equinovarus, Shortening of all metacarpals, Platyspondyly, Limb undergrowth, Me... |
OMIM:601356 |
| Nephronophthisis-Like Nephropathy 2 |
|
Bronchiectasis, Pulmonary infiltrates, Cough |
OMIM:619468 |
| Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities |
|
Pulmonic stenosis, Secundum atrial septal defect |
OMIM:178650 |
| Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Flexion contracture of thumb, Miscarriage, Absent glenoid fossa, Clinodactyly of the 3rd finger, ... |
ORPHA:96334 |
| Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type |
|
Broad phalanx, Platyspondyly, Micromelia, C1-C2 subluxation, Hip subluxation, Short long bone, Ep... |
OMIM:271665 |
| Heterotaxy, Visceral, 1, X-Linked |
|
Respiratory distress, Atrioventricular canal defect, Congenital hip dislocation, Ventricular sept... |
OMIM:306955 |
| Paternal 20Q13.2Q13.3 Microdeletion Syndrome |
|
Respiratory distress, Intrauterine growth retardation |
ORPHA:261304 |
| Marfanoid-Progeroid-Lipodystrophy Syndrome |
|
Reduced subcutaneous adipose tissue, Kyphosis, Progeroid facial appearance, Bruising susceptibili... |
OMIM:616914 |
| Acrodysostosis 1 With Or Without Hormone Resistance |
|
Spinal canal stenosis, Dislocated radial head, Long hallux, Cone-shaped epiphyses of the phalange... |
OMIM:101800 |
| Martsolf Syndrome 1 |
|
Short toe, Lumbar hyperlordosis, Talipes equinovarus, Short metacarpal, Slender ulna, Tracheomala... |
OMIM:212720 |
| Idiopathic Hypereosinophilic Syndrome |
|
Respiratory distress, Asthma, Pulmonary infiltrates, Urticaria, Myelofibrosis, Vasculitis in the ... |
ORPHA:3260 |
| Familial Cutaneous Collagenoma |
|
Atrial septal defect, Cardiomyopathy |
ORPHA:53296 |
| Megalencephaly |
|
Atrial septal defect |
ORPHA:2477 |
| Developmental And Epileptic Encephalopathy 102 |
|
Situs inversus totalis, Atrial septal defect |
OMIM:619881 |
| Cardiospondylocarpofacial Syndrome |
|
Atrial septal defect, Muscular ventricular septal defect, Ventricular septal defect, Patent foram... |
OMIM:157800 |
| Atrial Septal Defect 9 |
|
Bicuspid aortic valve, Secundum atrial septal defect |
OMIM:614475 |
| Adult Acute Respiratory Distress Syndrome |
|
Abnormal blood gas level, Pulmonary infiltrates, Pneumonia, Hypoxemia, Dyspnea, Respiratory failure |
ORPHA:70578 |
| Frank-Ter Haar Syndrome |
|
Osteopenia, Ventricular septal defect, Bowing of the long bones, Short long bone, Double outlet r... |
OMIM:249420 |
| Partial Atrioventricular Septal Defect |
|
Double outlet right ventricle, Partial atrioventricular canal defect, Bacterial endocarditis, Ano... |
ORPHA:1330 |
| Frontoocular Syndrome |
|
Pulmonic stenosis, Atrial septal defect |
OMIM:605321 |
| Anaplastic Thyroid Carcinoma |
|
Respiratory distress, Cough, Upper airway obstruction, Dyspnea, Stridor |
ORPHA:142 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Absent thumb, Atrioventricular canal defect, Hypoplasia of the radius, Femoral bowing, Ventricula... |
OMIM:274000 |
| Pentalogy Of Cantrell |
|
Hydrocephalus, Atrial septal defect, Abnormal pericardium morphology, Anencephaly, Tetralogy of F... |
ORPHA:1335 |
| Pulmonary Hemosiderosis |
|
Respiratory insufficiency, Transient pulmonary infiltrates |
OMIM:178550 |
| Idiopathic Neonatal Atrial Flutter |
|
Respiratory distress, Tachypnea |
ORPHA:45452 |
| Meacham Syndrome |
|
Cardiac total anomalous pulmonary venous connection, Bicuspid aortic valve, Atrial septal defect,... |
OMIM:608978 |
| Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome |
|
Ventricular septal defect, Hypoplastic right heart, Atrial septal defect |
OMIM:618142 |
| 3C Syndrome |
|
Abnormal mitral valve morphology, Hydrocephalus, Atrial septal defect, Aortic valve stenosis, Hyp... |
ORPHA:7 |
| Laryngeal Web, Familial |
|
Respiratory distress, Stridor |
OMIM:150360 |
| Acquired Methemoglobinemia |
|
Respiratory distress, Dyspnea, Cyanosis, Hypoxemia |
ORPHA:464453 |
| Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis |
|
Respiratory distress, Periostitis, Osteomyelitis, Osteopenia, Fused cervical vertebrae, Osteolysis |
OMIM:612852 |
| Acquired Partial Lipodystrophy |
|
Progeroid facial appearance |
ORPHA:79087 |
| Hypoglossia With Situs Inversus |
|
Situs inversus totalis, Upper airway obstruction, Respiratory distress |
OMIM:612776 |
| Cockayne Syndrome |
|
Reduced subcutaneous adipose tissue, Kyphosis, Scoliosis, Abnormal epiphysis morphology, Contract... |
ORPHA:191 |
| Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive |
|
Respiratory distress, Lymphocytic interstitial pneumonia |
OMIM:245590 |
| Congenital Alveolar Capillary Dysplasia |
|
Respiratory distress, Pulmonary valve atresia, Bicuspid aortic valve, Atrial septal defect, Aorti... |
ORPHA:210122 |
| Esophageal Atresia |
|
Laryngotracheomalacia, Respiratory distress, Episodic respiratory distress, Chronic pulmonary obs... |
ORPHA:1199 |
| Granulomatous Disease, Chronic, X-Linked |
|
Osteomyelitis, Cough, Atelectasis, Air bronchogram, Recurrent pneumonia, Pleural effusion |
OMIM:306400 |
| Hypoplastic Left Heart Syndrome |
|
Mitral stenosis, Atrial septal defect, Hypoplastic left heart, Mitral atresia |
ORPHA:2248 |
| Thyroid Lymphoma |
|
Respiratory distress, Dyspnea, Stridor, Upper airway obstruction |
ORPHA:97285 |
| Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1 |
|
Mitral stenosis, Atrial septal defect, Hypoplastic left heart, Aortic valve stenosis, Spinal dysr... |
OMIM:617660 |
| Mandibulofacial Dysostosis, Guion-Almeida Type |
|
Respiratory distress, Atrial septal defect, Slender finger, Ventricular septal defect, Proximal p... |
OMIM:610536 |
| Codas Syndrome |
|
Metaphyseal dysplasia, Coronal cleft vertebrae, Atrial septal defect, Delayed ossification of car... |
OMIM:600373 |
| Fusariosis |
|
Bronchiectasis, Pulmonary infiltrates, Osteomyelitis, Sinusitis, Air crescent sign, Parenchymal c... |
ORPHA:228119 |
| Nipah Virus Disease |
|
Respiratory distress, Cough |
ORPHA:99825 |
| 20P12.3 Microdeletion Syndrome |
|
Atrial septal defect |
ORPHA:261295 |
| Chand Syndrome |
|
Short fifth metatarsal, Atelectasis, Dry skin |
ORPHA:1401 |
| Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 |
|
Ventricular septal defect, Hydrocephalus, Atrial septal defect |
OMIM:603387 |
| Complete Atrioventricular Septal Defect |
|
Pulmonary venous hypertension, Primum atrial septal defect, Right ventricular hypertrophy, Cyanos... |
ORPHA:1329 |
| Opsismodysplasia |
|
Metaphyseal cupping, Hypoplastic vertebral bodies, Short metacarpal, Respiratory insufficiency, S... |
OMIM:258480 |
| Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome |
|
Bicuspid aortic valve, Atrial septal defect, Ventricular septal defect, Patent foramen ovale, Umb... |
ORPHA:329224 |
| Werner Syndrome |
|
Subcutaneous calcification, Prematurely aged appearance, Progeroid facial appearance, Reduced bon... |
OMIM:277700 |
| Abruzzo-Erickson Syndrome |
|
Atrial septal defect |
ORPHA:921 |
| Bone Dysplasia, Lethal Holmgren Type |
|
Hypertrophic cardiomyopathy, Atrial septal defect, Redundant neck skin |
ORPHA:1842 |
| Atrial Septal Defect 3 |
|
Secundum atrial septal defect |
OMIM:614089 |
| Triosephosphate Isomerase Deficiency |
|
Respiratory distress, Kyphosis, Respiratory insufficiency, Death in adolescence, Death in infancy... |
OMIM:615512 |
| Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction |
|
Ventricular septal defect, Atrial septal defect |
OMIM:613870 |
| Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy |
|
Respiratory distress, Osteopenia, Contractures of the large joints, Scoliosis |
ORPHA:329178 |
| Gapo Syndrome |
|
Prematurely aged appearance, Abnormal form of the vertebral bodies, Decreased skull ossification,... |
ORPHA:2067 |
| Coronary Arterial Fistula |
|
Bacterial endocarditis, Bicuspid aortic valve, Atrial septal defect, Aortic valve stenosis, Paten... |
ORPHA:2041 |
| Vater-Like Defects With Pulmonary Hypertension, Laryngeal Webs, And Growth Deficiency |
|
Ventricular septal defect, Atrial septal defect |
OMIM:608406 |
| Mogs-Cdg |
|
Respiratory distress, Apnea, Thoracic scoliosis, Atrial septal defect, Left ventricular hypertrop... |
ORPHA:79330 |
| Down Syndrome |
|
Clinodactyly of the 5th finger, Prematurely aged appearance, Short neck, Brachydactyly, Bilateral... |
ORPHA:870 |
| Coffin-Siris Syndrome 5 |
|
Atrial septal defect |
OMIM:616938 |
| Stt3B-Cdg |
|
Respiratory distress, Intrauterine growth retardation |
ORPHA:370924 |
| Ulnar Agenesis And Endocardial Fibroelastosis |
|
Aplasia of the ulna, Neonatal death, Hand oligodactyly, Endocardial fibroelastosis |
OMIM:276822 |
| Seizures-Scoliosis-Macrocephaly Syndrome |
|
Atrial septal defect |
ORPHA:466926 |
| Fructose-1,6-Bisphosphatase Deficiency |
