| Asbestos Intoxication |
|
Clubbing of fingers, Wheezing, Exertional dyspnea, Cyanosis, Ground-glass opacification, Late ins... |
ORPHA:2302 |
| Bronchopulmonary Dysplasia |
|
Pulmonary sequestration, Wheezing, Hyperoxemia, Respiratory distress, Abnormal respiratory system... |
ORPHA:70589 |
| Atrial Septal Defect 2 |
|
Atrioventricular canal defect, Atrial septal defect, Ventricular septal defect |
OMIM:607941 |
| Atrioventricular Septal Defect 5 |
|
Atrioventricular canal defect, Muscular ventricular septal defect |
OMIM:614474 |
| Pseudoachondroplasia |
|
Scoliosis, Irregular carpal bones, Short phalanx of finger, Metaphyseal irregularity, Joint laxit... |
ORPHA:750 |
| Autosomal Dominant Cutis Laxa |
|
Prematurely aged appearance, Premature skin wrinkling, Abnormal heart valve morphology, Redundant... |
ORPHA:90348 |
| Surfactant Metabolism Dysfunction, Pulmonary, 3 |
|
Reticular pattern on pulmonary HRCT, Exertional dyspnea, Cough, Death in infancy, Cyanosis, Bronc... |
OMIM:610921 |
| Dermatoleukodystrophy |
|
Premature skin wrinkling, Progeroid facial appearance, Large hands, Prominent nose |
OMIM:221790 |
| Odontochondrodysplasia 1 |
|
Scoliosis, Joint hypermobility, Short phalanx of finger, Flared iliac wing, Death in infancy, Fla... |
OMIM:184260 |
| Lethal Congenital Contracture Syndrome 3 |
|
Neonatal death, Arthrogryposis multiplex congenita, Multiple joint contractures, Respiratory insu... |
OMIM:611369 |
| Atrial Septal Defect 5 |
|
Atrial septal defect |
OMIM:612794 |
| Acute Interstitial Pneumonia |
|
Subpleural honeycombing, Ground-glass opacification, Dyspnea, Interlobular septal thickening, Bro... |
ORPHA:79126 |
| Adams-Oliver Syndrome 4 |
|
Atrial septal defect, Cutis marmorata, Umbilical hernia, Ventricular septal defect |
OMIM:615297 |
| Waardenburg Syndrome Type 3 |
|
Acrocyanosis, Camptodactyly of finger, Atrial septal defect, Abnormality of finger, Synostosis of... |
ORPHA:896 |
| Recurrent Respiratory Papillomatosis |
|
Wheezing, Dyspnea, Respiratory distress, Abnormal lung morphology, Recurrent upper respiratory tr... |
ORPHA:60032 |
| Ciliary Dyskinesia, Primary, 20 |
|
Situs inversus totalis, Bronchiectasis, Ciliary dyskinesia, Cough, Recurrent sinusitis, Absent ou... |
OMIM:615067 |
| Perching Syndrome |
|
Camptodactyly, Flexion contracture, Respiratory distress, Depressed nasal bridge |
OMIM:617055 |
| Pulmonary Blastoma |
|
Recurrent pneumonia, Dyspnea, Pleuropulmonary blastoma, Cough, Hemoptysis, Pulmonary infiltrates |
ORPHA:64741 |
| Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction |
|
Wheezing, Cough, Elevated bronchoalveolar lavage fluid neutrophil proportion, Ground-glass opacif... |
OMIM:610978 |
| Transaldolase Deficiency |
|
Biventricular hypertrophy, Atrial septal defect, Telangiectasia, Premature skin wrinkling |
ORPHA:101028 |
| Rowley-Rosenberg Syndrome |
|
Cor pulmonale, Atelectasis, Right ventricular hypertrophy, Recurrent pneumonia, Pulmonary arteria... |
OMIM:268500 |
| Tracheobronchopathia Osteochondroplastica |
|
Abnormal sputum, Wheezing, Tracheal calcification, Exertional dyspnea, Pneumonia, Respiratory ins... |
ORPHA:3348 |
| Bronchogenic Cyst |
|
Abnormal sputum, Dyspnea, Abnormal pleura morphology, Cough, Back pain, Pneumonia, Abnormal peric... |
ORPHA:2357 |
| Epiphyseal Dysplasia, Multiple, 1 |
|
Genu valgum, Short phalanx of finger, Generalized joint laxity, Hip osteoarthritis, Irregular epi... |
OMIM:132400 |
| Immunodeficiency, Developmental Delay, And Hypohomocysteinemia |
|
Atrial septal defect, Abnormal heart morphology |
OMIM:617744 |
| Ciliary Dyskinesia, Primary, 21 |
|
Chronic sinusitis, Bronchiectasis, Ciliary dyskinesia, Atelectasis, Neonatal respiratory distress... |
OMIM:615294 |
| Eyebrows, Duplication Of, With Stretchable Skin And Syndactyly |
|
Hypermobility of interphalangeal joints, Periorbital wrinkles, 2-3 toe syndactyly, 2-4 finger syn... |
OMIM:227210 |
| Odontochondrodysplasia |
|
Scoliosis, Platyspondyly, Respiratory distress, Short nose, Square pelvis bone, Joint hyperflexib... |
ORPHA:166272 |
| Respiratory Distress Syndrome In Premature Infants |
|
Dyspnea, Respiratory distress, Atelectasis, Neonatal respiratory distress, Pulmonary edema, Tachy... |
OMIM:267450 |
| Myopathy, Areflexia, Respiratory Distress, And Dysphagia, Early-Onset |
|
Scoliosis, Camptodactyly of finger, Restrictive ventilatory defect, Respiratory distress, Respira... |
OMIM:614399 |
| Hypomyelination Neuropathy-Arthrogryposis Syndrome |
|
Limitation of joint mobility, Respiratory distress |
ORPHA:2680 |
| Eiken Syndrome |
|
Cubitus valgus, Short toe, Abnormal bone ossification, Short phalanx of finger, Metaphyseal irreg... |
ORPHA:79106 |
| Osebold-Remondini Syndrome |
|
Dysplastic distal radial epiphyses, Hypoplasia of the radius, Decreased finger mobility, Tarsal s... |
OMIM:112910 |
| Aquagenic Palmoplantar Keratoderma |
|
Palmoplantar hyperhidrosis, Palmoplantar keratoderma, Excessive skin wrinkling on dorsum of hands... |
ORPHA:498359 |
| Mucus Inspissation Of Respiratory Tract |
|
Chronic pulmonary obstruction, Bronchiectasis, Atelectasis, Chronic sinusitis, Recurrent respirat... |
OMIM:253240 |
| Ciliary Dyskinesia, Primary, 29 |
|
Bronchiectasis, Ciliary dyskinesia, Atelectasis, Decreased nasal nitric oxide, Recurrent respirat... |
OMIM:615872 |
| Meconium Aspiration Syndrome |
|
Wheezing, Abnormal pulmonary thoracic imaging finding, Respiratory distress, Pulmonary arterial h... |
ORPHA:70588 |
| B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Scoliosis, Joint hypermobility, Craniosynostosis, Phalangeal dislocation, Slender long bones with... |
ORPHA:536467 |
| Acrogeria |
|
Scoliosis, Prematurely aged appearance, Joint hyperflexibility, Telangiectasia of the skin, Small... |
ORPHA:2500 |
| Cutis Laxa, Autosomal Dominant 3 |
|
Premature skin wrinkling, Cutis laxa, Osteopenia, Intrauterine growth retardation, Talipes equino... |
OMIM:616603 |
| Ciliary Dyskinesia, Primary, 33 |
|
Recurrent bronchitis, Bronchiectasis, Ciliary dyskinesia, Cough, Atelectasis, Chronic rhinitis, R... |
OMIM:616726 |
| Pulmonary Nodular Lymphoid Hyperplasia |
|
Ground-glass opacification, Cough, Dyspnea, Nodular pattern on pulmonary HRCT |
ORPHA:60026 |
| Familial Nasal Acilia |
|
Dyspnea, Respiratory distress, Bronchiectasis, Recurrent upper respiratory tract infections, Atel... |
ORPHA:922 |
| Ventricular Septal Defect 1 |
|
Pulmonic stenosis, Atrial septal defect, Ventricular septal defect |
OMIM:614429 |
| Surfactant Metabolism Dysfunction, Pulmonary, 2 |
|
Bronchiectasis, Interstitial pneumonitis, Cough, Respiratory insufficiency, Pulmonary arterial hy... |
OMIM:610913 |
| Pseudoachondroplasia |
|
Scoliosis, Irregular carpal bones, Short phalanx of finger, Metaphyseal irregularity, Joint laxit... |
OMIM:177170 |
| Cutis Laxa, Autosomal Dominant 2 |
|
Scoliosis, Cutis laxa, Premature skin wrinkling |
OMIM:614434 |
| Arthrogryposis Multiplex Congenita 5 |
|
Scoliosis, Arthrogryposis multiplex congenita, Camptodactyly, Death in infancy, Limitation of kne... |
OMIM:618947 |
| Tricuspid Atresia |
|
Tricuspid atresia, Atrial septal defect, Ventricular septal defect, Patent foramen ovale, Cyanosi... |
ORPHA:1209 |
| White Forelock With Malformations |
|
Atrial septal defect, Prominent veins on trunk |
OMIM:277740 |
| Primary Ciliary Dyskinesia |
|
Wheezing, Bronchiectasis, Nasal polyposis, Atrial situs ambiguous, Double outlet right ventricle,... |
ORPHA:244 |
| Emphysema, Congenital Lobar |
|
Bronchial cartilage hypoplasia, Respiratory distress |
OMIM:130710 |
| Thanatophoric Dysplasia Type 1 |
|
Platyspondyly, Abnormal sacroiliac joint morphology, Short femur, Atrial septal defect, Split han... |
ORPHA:1860 |
| Neurogenic Arthrogryposis Multiplex Congenita |
|
Scoliosis, Rocker bottom foot, Respiratory distress, Abnormal heart morphology, Flexion contractu... |
ORPHA:1143 |
| Elastoderma |
|
Cutis laxa, Premature skin wrinkling |
ORPHA:228240 |
| Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections, With Or Without Deafness |
|
Chronic sinusitis, Recurrent bronchitis, Atelectasis |
OMIM:300455 |
| Lethal Recessive Chondrodysplasia |
|
Respiratory distress, Flared elbow metaphyses, Generalized osteosclerosis, Limb undergrowth, Shor... |
ORPHA:1423 |
| Greenberg Dysplasia |
|
Epiphyseal stippling, Tracheal calcification, Short phalanx of finger, Sandal gap, Abnormal pelvi... |
OMIM:215140 |
| Solitary Bone Cyst |
|
Abnormal ilium morphology, Prominent calcaneus, Abnormality of tibia morphology, Abnormal form of... |
ORPHA:83468 |
| Lipodystrophy-Intellectual Disability-Deafness Syndrome |
|
Slender long bones with narrow diaphyses, Dense metaphyseal bands, Progeroid facial appearance, I... |
ORPHA:50811 |
| Infant Acute Respiratory Distress Syndrome |
|
Respiratory tract infection, Pneumonia, Atelectasis, Nasal flaring, Respiratory failure, Pulmonar... |
ORPHA:70587 |
| Plectin-Related Limb-Girdle Muscular Dystrophy R17 |
|
Bronchiolitis, Pulmonary fibrosis, Exertional dyspnea, Atelectasis, Achilles tendon contracture, ... |
ORPHA:254361 |
| Lethal Osteosclerotic Bone Dysplasia |
|
Dyspnea, Short nose, Respiratory distress, Respiratory failure, Intrauterine growth retardation, ... |
ORPHA:1832 |
| Spinal Muscular Atrophy, Type I |
|
Atrial septal defect, Ventricular septal defect |
OMIM:253300 |
| Chondrodysplasia, Grebe Type |
|
Hypoplasia of the radius, Short femur, Postaxial hand polydactyly, Short phalanx of finger, Still... |
OMIM:200700 |
| Autosomal Dominant Hyper-Ige Syndrome |
|
Scoliosis, Osteomyelitis, Craniosynostosis, Generalized abnormality of skin, Joint hyperflexibili... |
ORPHA:2314 |
| Ehlers-Danlos Syndrome, Beasley-Cohen Type |
|
Hip dislocation, Joint laxity, Excessive skin wrinkling on dorsum of hands and fingers |
OMIM:608763 |
| Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly |
|
Short metatarsal, Short phalanx of finger, Respiratory distress, Postaxial polydactyly, Limb unde... |
OMIM:617102 |
| Interstitial Pneumonitis, Desquamative, Familial |
|
Type II pneumocyte hypertrophy, Respiratory distress, Recurrent upper respiratory tract infection... |
OMIM:263000 |
| Imperforate Oropharynx-Costovertebral Anomalies Syndrome |
|
Dyspnea, Respiratory distress, Abnormal form of the vertebral bodies, Joint hyperflexibility, Lon... |
ORPHA:2759 |
| Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density |
|
Hypoplasia of the radius, Short femur, Lumbar platyspondyly, Lytic defects of humeral diaphysis, ... |
OMIM:601376 |
| Metaphyseal Acroscyphodysplasia |
|
Irregular phalanges, Scoliosis, Craniosynostosis, Short phalanx of finger, Cone-shaped epiphyses ... |
OMIM:250215 |
| Microphthalmia, Syndromic 8 |
|
Split foot, Premature skin wrinkling |
OMIM:601349 |
| Surfactant Metabolism Dysfunction, Pulmonary, 1 |
|
Apnea, Ground-glass opacification, Intraalveolar phospholipid accumulation, Dyspnea, Interlobular... |
OMIM:265120 |
| Arthrogryposis, Distal, Type 1A |
|
Scoliosis, Arthrogryposis multiplex congenita, Congenital hip dislocation, Stiff shoulders, Campt... |
OMIM:108120 |
| 8p23.1 deletion syndrome |
|
Atrioventricular canal defect, Atrial septal defect, Abnormal heart morphology |
DECIPHER:39 |
| Acromesomelic Dysplasia, Maroteaux Type |
|
Short metatarsal, Short phalanx of finger, Joint laxity, Ovoid vertebral bodies, Cone-shaped epip... |
OMIM:602875 |
| Short Syndrome |
|
Joint laxity, Underdeveloped nasal alae, Enlarged epiphyses, Premature skin wrinkling, Radial dev... |
OMIM:269880 |
| Kniest Dysplasia |
|
Platyspondyly, Short neck, Respiratory distress, Coronal cleft vertebrae, Hypoplastic pelvis, Fla... |
OMIM:156550 |
| Macroepiphyseal Dysplasia With Osteoporosis, Wrinkled Skin, And Aged Appearance |
|
Osteoporosis, Prematurely aged appearance, Joint laxity, Recurrent fractures, Complex palmar derm... |
OMIM:248010 |
| Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome |
|
Craniosynostosis, Carpal bone hypoplasia, Flattened femoral head, Thoracic platyspondyly, Increas... |
ORPHA:457395 |
| Congenital Heart Defects, Multiple Types, 5 |
|
Atrial septal defect, Ventricular septal defect, Aortic valve stenosis, Double outlet right ventr... |
OMIM:617912 |
| Nicolaides-Baraitser Syndrome |
|
Scoliosis, Broad distal phalanx of finger, Abnormality of finger, Anteverted nares, Abnormality o... |
ORPHA:3051 |
| Heart Defects-Limb Shortening Syndrome |
|
Abnormal mitral valve morphology, Atrial septal defect, Abnormal tricuspid valve morphology, Vent... |
ORPHA:1354 |
| Spondyloepiphyseal Dysplasia Congenita |
|
Scoliosis, Delayed pubic bone ossification, Restrictive ventilatory defect, Atlantoaxial instabil... |
OMIM:183900 |
| Myasthenic Syndrome, Congenital, 6, Presynaptic |
|
Arthrogryposis multiplex congenita, Sudden episodic apnea, Respiratory distress, Respiratory insu... |
OMIM:254210 |
| Acromicric Dysplasia |
|
Short phalanx of finger, Bulbous nose, Ovoid vertebral bodies, Cone-shaped epiphysis, Short foot,... |
OMIM:102370 |
| Cryptogenic Organizing Pneumonia |
|
Ground-glass opacification, Restrictive ventilatory defect, Wheezing, Dyspnea, Respiratory distre... |
ORPHA:1302 |
| Geroderma Osteodysplastica |
|
Scoliosis, Platyspondyly, Prematurely aged appearance, Osteoporosis, Abnormal bone ossification, ... |
ORPHA:2078 |
| Idiopathic Pulmonary Fibrosis |
|
Clubbing of fingers, Ground-glass opacification, Reticular pattern on pulmonary HRCT, Bronchiecta... |
ORPHA:2032 |
| Progeroid Facial Appearance With Hand Anomalies |
|
Joint contracture of the 5th finger, Progeroid facial appearance, Cutaneous finger syndactyly, Pr... |
OMIM:602249 |
| Developmental And Epileptic Encephalopathy 30 |
|
Death in infancy, Respiratory distress |
OMIM:616341 |
| Distal 7Q11.23 Microdeletion Syndrome |
|
Atrial septal defect |
ORPHA:254351 |
| Moebius Syndrome |
|
Arthrogryposis multiplex congenita, Short phalanx of finger, Respiratory distress, Abnormal nasop... |
OMIM:157900 |
| Pulmonary Non-Tuberculous Mycobacterial Infection |
|
Pulmonary opacity, Abnormal sputum, Dyspnea, Respiratory distress, Bronchiectasis, Chronic pulmon... |
ORPHA:411703 |
| Cyanosis And Hepatic Disease |
|
Clubbing, Cyanosis, Dyspnea |
OMIM:219400 |
| Epilepsy, Pyridoxine-Dependent |
|
Neonatal respiratory distress, Respiratory distress |
OMIM:266100 |
| Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3 |
|
Dislocated radial head, Camptodactyly of finger, Platyspondyly, Short phalanx of finger, Joint la... |
OMIM:612350 |
| Chromosome 16P13.3 Duplication Syndrome |
|
Atrial septal defect, Short phalanx of finger, Bulbous nose, Short nose, Ventricular septal defec... |
OMIM:613458 |
| Dyggve-Melchior-Clausen Disease |
|
Scoliosis, Short metatarsal, Carpal bone hypoplasia, Camptodactyly, Thoracic kyphosis, Iliac cres... |
OMIM:223800 |
| Congenital Disorder Of Glycosylation, Type Iy |
|
Scoliosis, Clinodactyly, Respiratory distress |
OMIM:300934 |
| Mitochondrial Complex I Deficiency, Nuclear Type 30 |
|
Intrauterine growth retardation, Redundant skin, Neonatal death, Respiratory failure |
OMIM:301021 |
| Diamond-Blackfan Anemia 16 |
|
Pulmonic stenosis, Atrial septal defect |
OMIM:617408 |
| Farber Disease |
|
Osteoporosis, Respiratory distress, Recurrent upper respiratory tract infections, Abnormality of ... |
ORPHA:333 |
| Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy |
|
Respiratory distress, Kyphoscoliosis |
OMIM:619099 |
| Otopalatodigital Syndrome, Type I |
|
Abnormality of the fifth metatarsal bone, Scoliosis, Short distal phalanx of finger, Sandal gap, ... |
OMIM:311300 |
| Cog5-Cdg |
|
Genu valgum, Camptodactyly of finger, Finger clinodactyly, Premature skin wrinkling, Wide nasal b... |
ORPHA:263487 |
| Diaphanospondylodysostosis |
|
Respiratory distress, Absent or minimally ossified vertebral bodies, Abnormal vertebral segmentat... |
ORPHA:66637 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 2 |
|
Death in infancy, Respiratory distress, Hypertrophic cardiomyopathy |
OMIM:604377 |
| Megabladder, Congenital |
|
Bicuspid aortic valve, Ventricular septal defect, Atrial septal defect, Left ventricular noncompa... |
OMIM:618719 |
| Leukodystrophy, Hypomyelinating, 17 |
|
Flexion contracture, Anteverted nares, Respiratory distress, Kyphoscoliosis |
OMIM:618006 |
| Geroderma Osteodysplasticum |
|
Osteoporosis, Platyspondyly, Biconcave vertebral bodies, Beaking of vertebral bodies, Camptodacty... |
OMIM:231070 |
| Myoclonic-Astatic Epilepsy |
|
Syndactyly, Anteverted nares, Premature skin wrinkling, Wide nasal bridge |
ORPHA:1942 |
| Thiemann Disease |
|
Broad phalanx, Short phalanx of finger |
OMIM:165700 |
| Choanal Atresia |
|
Craniosynostosis, Respiratory distress, Polydactyly, Abnormal nasal mucus secretion, Tracheomalac... |
ORPHA:137914 |
| Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones |
|
Genu valgum, Cubitus valgus, Slender long bones with narrow diaphyses, Progeroid facial appearanc... |
OMIM:608154 |
| Mesoaxial Hexadactyly And Cardiac Malformation |
|
Pulmonic stenosis, Atrial septal defect, Ventricular septal defect |
OMIM:249670 |
| Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome |
|
Respiratory distress |
ORPHA:171703 |
| Gaucher Disease Type 2 |
|
Respiratory distress, Cough, Flexion contracture, Abnormal pattern of respiration, Recurrent resp... |
ORPHA:77260 |
| Sandestig-Stefanova Syndrome |
|
Perimembranous ventricular septal defect, Muscular ventricular septal defect |
OMIM:618804 |
| Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome |
|
Perimembranous ventricular septal defect, Atrial septal defect, Muscular ventricular septal defec... |
ORPHA:363444 |
| Short-Rib Thoracic Dysplasia 12 |
|
Short toe, Patent foramen ovale, Broad palm, Ventricular septal defect, Hypoplastic scapulae, Sho... |
OMIM:269860 |
| Enthesitis-Related Juvenile Idiopathic Arthritis |
|
Abnormal femoral neck/head morphology, Abnormal hip joint morphology, Abnormality of the elbow, A... |
ORPHA:85438 |
| Dermatosparaxis Ehlers-Danlos Syndrome |
|
Hip dysplasia, Scoliosis, Osteoporosis, Rickets, Joint hyperflexibility, Avascular necrosis of th... |
ORPHA:1901 |
| Pomt1-Related Limb-Girdle Muscular Dystrophy R11 |
|
Scoliosis, Dyspnea, Respiratory distress, Cough, Triceps weakness, Lumbar hyperlordosis, Spinal r... |
ORPHA:86812 |
| Microcephalic Primordial Dwarfism, Montreal Type |
|
Scoliosis, Prematurely aged appearance, Premature graying of hair, Kyphosis, Reduced bone mineral... |
ORPHA:2617 |
| Chromosome 8Q22.1 Duplication Syndrome |
|
Cubitus valgus, Broad thumb, Short phalanx of finger, Short metatarsal, Enlarged interphalangeal ... |
OMIM:151200 |
| X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Platyspondyly, Metaphyseal chondrodysplasia, Short nose, Rhizomelia, Metaphyseal cupping of metac... |
ORPHA:163966 |
| Laryngotracheal Angioma |
|
Apnea, Wheezing, Respiratory distress, Cough, Intercostal retractions, Cyanosis, Stridor |
ORPHA:137935 |
| Fontaine Progeroid Syndrome |
|
Scoliosis, Prematurely aged appearance, Craniosynostosis, Death in infancy, Respiratory insuffici... |
OMIM:612289 |
| Staphylococcal Necrotizing Pneumonia |
|
Abnormal sputum, Dyspnea, Respiratory distress, Parenchymal consolidation, Pleural effusion, Coug... |
ORPHA:36238 |
| Pulmonary Fibrosis, Idiopathic |
|
Clubbing of fingers, Dyspnea, Exertional dyspnea, Pulmonary fibrosis, Alveolar cell carcinoma, Co... |
OMIM:178500 |
| Porencephaly, Cerebellar Hypoplasia, And Internal Malformations |
|
Tetralogy of Fallot, Atrial septal defect, Situs inversus totalis |
OMIM:601322 |
| T-Cell Immunodeficiency, Recurrent Infections, And Autoimmunity With Or Without Cardiac Malformations |
|
Atrial septal defect |
OMIM:614868 |
| Fg Syndrome Type 1 |
|
Progressive flexion contractures, Atrial septal defect, Abnormal thumb morphology, Facial wrinkli... |
ORPHA:93932 |
| Aspergillosis |
|
Abnormality of long bone morphology, Pleuritis, Bronchiectasis, Cough, Pneumonia, Abnormal trache... |
ORPHA:1163 |
| Idiopathic Acute Eosinophilic Pneumonia |
|
Restrictive ventilatory defect, Abnormal pleura morphology, Cough, Respiratory insufficiency, Abn... |
ORPHA:724 |
| Opitz-Kaveggia Syndrome |
|
Broad thumb, Abnormal nasopharynx morphology, Short neck, Facial wrinkling, Abnormal heart morpho... |
OMIM:305450 |
| Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly |
|
Arthrogryposis multiplex congenita, Short neck, Bulbous nose, Stillbirth, Anteverted nares, 2-3 t... |
OMIM:236500 |
| Pleural Mesothelioma |
|
Abnormal lung morphology, Dyspnea, Respiratory distress, Abnormal respiratory system physiology, ... |
ORPHA:50251 |
| Congenital Disorder Of Glycosylation, Type Iu |
|
Scoliosis, Respiratory distress, Short nose, Death in infancy, Congenital contracture, Neonatal r... |
OMIM:615042 |
| Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive |
|
Recurrent pneumonia, Aplasia/Hypoplasia of the capital femoral epiphysis, Platyspondyly, Large ta... |
OMIM:215150 |
| Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech |
|
Short phalanx of finger, Carpal bone hypoplasia, Anterior scalloping of vertebral bodies, Small e... |
OMIM:611717 |
| Diaphanospondylodysostosis |
|
Lumbosacral meningocele, Short neck, Respiratory distress, Short nose, Respiratory insufficiency,... |
OMIM:608022 |
| Bardet-Biedl Syndrome 16 |
|
Recurrent respiratory infections, Respiratory distress, Bronchiolitis |
OMIM:615993 |
| Atrial Septal Defect 4 |
|
Patent foramen ovale, Atrial septal defect |
OMIM:611363 |
| Campomelic Dysplasia |
|
Apnea, Hypoplastic cervical vertebrae, Respiratory distress, Poorly ossified cervical vertebrae, ... |
OMIM:114290 |
| Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities |
|
Truncus arteriosus, Ventricular septal defect, Mesomelia, Hypoplasia of the ulna, Respiratory ins... |
OMIM:228940 |
| Ruvalcaba Syndrome |
|
Scoliosis, Limited elbow extension, Short metatarsal, Short phalanx of finger, Underdeveloped nas... |
OMIM:180870 |
| Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence |
|
Respiratory distress, Anteverted nares, Short nose, Laryngeal hypoplasia, Abnormality of the lary... |
OMIM:217980 |
| Brachydactyly-Syndactyly Syndrome |
|
Oligodactyly, Short phalanx of finger, Finger syndactyly, Camptodactyly, Syndactyly, Short digit,... |
OMIM:610713 |
| Idiopathic Bronchiectasis |
|
Respiratory tract infection, Wheezing, Dyspnea, Bronchiectasis, Emphysema, Decreased pulmonary fu... |
ORPHA:60033 |
| Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome |
|
Cyanosis, Respiratory distress, Hypertrophic cardiomyopathy |
ORPHA:91130 |
| Smith-Mccort Dysplasia 1 |
|
Scoliosis, Genu valgum, Atlantoaxial instability, Multicentric femoral head ossification, Platysp... |
OMIM:607326 |
| Otospondylomegaepiphyseal Dysplasia |
|
Abnormality of long bone morphology, Short phalanx of finger, Sandal gap, Short neck, Osteoarthri... |
ORPHA:1427 |
| Thanatophoric Dysplasia, Type Ii |
|
Platyspondyly, Metaphyseal irregularity, Hypoplastic ilia, Short greater sciatic notch, Respirato... |
OMIM:187601 |
| Chitayat Syndrome |
|
Respiratory distress, Anteverted nares, Tracheomalacia, Abnormal pulmonary interstitial morpholog... |
OMIM:617180 |
| Catel-Manzke Syndrome |
|
Atrial septal defect, Ventricular septal defect |
ORPHA:1388 |
| Cataract-Intellectual Disability-Hypogonadism Syndrome |
|
Scoliosis, Hyperlordosis, Prematurely aged appearance, Ulnar deviation of finger, Abnormal distal... |
ORPHA:1387 |
| Myasthenic Syndrome, Congenital, 4A, Slow-Channel |
|
Apneic episodes precipitated by illness, fatigue, stress, Sudden episodic apnea, Respiratory dist... |
OMIM:605809 |
| Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 1 |
|
Clubbing of fingers, Dyspnea, Reticular pattern on pulmonary HRCT, Premature graying of hair, Pul... |
OMIM:614742 |
| Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Hypoplasia of the radius, Respiratory distress, Ventricular septal defect, Hypoplastic ilia, Post... |
OMIM:617895 |
| Short Chain Acyl-Coa Dehydrogenase Deficiency |
|
Intrauterine growth retardation, Respiratory distress, Cardiomyopathy |
ORPHA:26792 |
| Nasodigitoacoustic syndrome |
|
Broad distal phalanx of finger, Short 3rd metacarpal, Broad thumb, Short phalanx of finger, Enlar... |
OMIM:255980 |
| Congenital Heart Defects, Multiple Types, 4 |
|
Ventricular septal defect, Aortic valve stenosis, Hypoplastic left heart, Atrioventricular canal ... |
OMIM:615779 |
| Cardioneuromyopathy With Hyaline Masses And Nemaline Rods |
|
Dyspnea, Widening of cervical spinal canal, Respiratory insufficiency, Cervical vertebral bodies ... |
OMIM:606842 |
| Arthrogryposis, Distal, Type 2B1 |
|
Scoliosis, Rocker bottom foot, Camptodactyly of finger, Arthrogryposis multiplex congenita, Absen... |
OMIM:601680 |
| Orofaciodigital Syndrome Type 10 |
|
Mesomelic arm shortening, Radial deviation of the hand, Prominent calcaneus, Oligodactyly, Tarsal... |
ORPHA:2756 |
| Trichorhinophalangeal Syndrome, Type Iii |
|
Coxa magna, Pear-shaped nose, Scoliosis, Short metatarsal, Short phalanx of finger, Underdevelope... |
OMIM:190351 |
| Laryngomalacia |
|
Congenital laryngeal stridor, Respiratory distress, Abnormal trachea morphology, Laryngomalacia |
OMIM:150280 |
| Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked |
|
Dilated cardiomyopathy, Respiratory distress, Respiratory insufficiency due to muscle weakness |
OMIM:300580 |
| Noonan Syndrome 11 |
|
Palmoplantar cutis laxa, Pulmonic stenosis, Atrial septal defect, Hypertrophic cardiomyopathy |
OMIM:618499 |
| Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation |
|
Atrial septal defect, Ventricular septal defect |
OMIM:608227 |
| Infantile-Onset X-Linked Spinal Muscular Atrophy |
|
Arthrogryposis multiplex congenita, Respiratory distress, Respiratory insufficiency, Interphalang... |
ORPHA:1145 |
| Mitochondrial Dna Depletion Syndrome, Myopathic Form |
|
Scoliosis, Respiratory distress, Ventilator dependence with inability to wean, Respiratory insuff... |
ORPHA:254875 |
| Severe Acute Respiratory Syndrome |
|
Dyspnea, Respiratory distress, Cough, Respiratory failure requiring assisted ventilation, Acute i... |
ORPHA:140896 |
| Indomethacin Embryofetopathy |
|
Atrial septal defect, Cardiomyopathy, Ventricular septal defect |
ORPHA:1909 |
| Hereditary Pulmonary Alveolar Proteinosis |
|
Restrictive ventilatory defect, Respiratory distress, Cough, Respiratory failure requiring assist... |
ORPHA:264675 |
| Osteoglophonic Dysplasia |
|
Craniosynostosis, Short metatarsal, Short phalanx of finger, Increased susceptibility to fracture... |
OMIM:166250 |
| Fallot Complex With Severe Mental And Growth Retardation |
|
Pulmonic stenosis, Tetralogy of Fallot, Double outlet right ventricle, Ventricular septal defect |
OMIM:601127 |
| B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Palmoplantar cutis gyrata, Joint hyperflexibility, Cutis laxa, Flexion contracture, Progeroid fac... |
ORPHA:75496 |
| Severe X-Linked Mitochondrial Encephalomyopathy |
|
Respiratory distress, Respiratory insufficiency |
ORPHA:238329 |
| Split-Hand/Foot Malformation 2 |
|
Short phalanx of finger, Finger syndactyly, Split hand, Split foot, Short metacarpal |
OMIM:313350 |
| Lissencephaly Syndrome, Norman-Roberts Type |
|
Rocker bottom foot, Atrial septal defect, Respiratory distress, Patent foramen ovale, Wide nasal ... |
ORPHA:89844 |
| Myopathy And Diabetes Mellitus |
|
Shoulder girdle muscle weakness, Hyporeflexia of upper limbs, Achilles tendon contracture, Respir... |
ORPHA:2596 |
| Hypertension And Brachydactyly Syndrome |
|
Brachydactyly, Cone-shaped epiphysis, Short phalanx of finger, Short metacarpal |
OMIM:112410 |
| Coenzyme Q10 Deficiency, Primary, 8 |
|
Respiratory distress, Flexion contracture, Pulmonary hypoplasia, Left ventricular hypertrophy, In... |
OMIM:616733 |
| Laron Syndrome |
|
Short toe, Prematurely aged appearance, Abnormality of the elbow, Hypoplastic nasal bridge, Aplas... |
ORPHA:633 |
| Pfeiffer Syndrome Type 2 |
|
Short hallux, Broad thumb, Toe syndactyly, Respiratory distress, Finger syndactyly, Hallux varus,... |
ORPHA:93259 |
| Ventricular Septal Defect 3 |
|
Atrial septal defect, Ventricular septal defect |
OMIM:614432 |
| Heyn-Sproul-Jackson Syndrome |
|
Short phalanx of finger, Short metacarpal, Broad phalanx, Intrauterine growth retardation, Broad ... |
OMIM:618724 |
| Sarcoidosis, Susceptibility To, 2 |
|
Restrictive ventilatory defect, Dyspnea, Bronchiectasis, Pulmonary fibrosis, Pleural effusion, Em... |
OMIM:612387 |
| Smith-Mccort Dysplasia 2 |
|
Genu valgum, Platyspondyly, Short metatarsal, Short phalanx of finger, Metaphyseal irregularity, ... |
OMIM:615222 |
| Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects |
|
Muscular ventricular septal defect, Spina bifida occulta |
OMIM:619227 |
| Pulmonary Capillary Hemangiomatosis |
|
Clubbing of fingers, Ground-glass opacification, Dyspnea, Pulmonary capillary hemangiomatosis, El... |
ORPHA:199241 |
| Rnf13-Related Severe Early-Onset Epileptic Encephalopathy |
|
Hip dysplasia, Scoliosis, Joint hypermobility, Finger joint hypermobility, Respiratory distress, ... |
ORPHA:544503 |
| Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Scoliosis, Respiratory tract infection, Hyperlordosis, Sleep apnea, Osteoporosis, Respiratory dis... |
ORPHA:365 |
| Congenital Disorder Of Glycosylation, Type Ie |
|
Upper limb undergrowth, Respiratory distress, Camptodactyly, Ankle flexion contracture, Small han... |
OMIM:608799 |
| Congenital Laryngeal Web |
|
Abnormal cardiac septum morphology, Stridor, Respiratory distress, Laryngomalacia |
ORPHA:2374 |
| Chronic Beryllium Disease |
|
Abnormality on pulmonary function testing, Ground-glass opacification, Dyspnea, Pulmonary fibrosi... |
ORPHA:133 |
| Metaphyseal Chondrodysplasia, Kaitila Type |
|
Limited elbow extension, Proximal femoral metaphyseal irregularity, Metaphyseal chondrodysplasia,... |
OMIM:250230 |
| Acute Lung Injury |
|
Dyspnea, Respiratory distress, Pneumonia, Abnormal pulmonary interstitial morphology, Diffuse alv... |
ORPHA:178320 |
| Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs |
|
Respiratory distress, Abnormality of epiphysis morphology, Absent ossification of capital femoral... |
ORPHA:226313 |
| Stuve-Wiedemann Syndrome |
|
Scoliosis, Short phalanx of finger, Respiratory insufficiency, Pathologic fracture, Pulmonary art... |
OMIM:601559 |
| Histiocytosis, Familial Lipochrome |
|
Pulmonary infiltrates |
OMIM:235900 |
| Ogden Syndrome |
|
Scoliosis, Minimal subcutaneous fat, Atrial septal defect, Facial wrinkling, Underdeveloped nasal... |
OMIM:300855 |
| Arthrogryposis, Perthes Disease, And Upward Gaze Palsy |
|
Pulmonic stenosis, Atrial septal defect, Ventricular septal defect |
OMIM:614262 |
| Ciliary Dyskinesia, Primary, 2 |
|
Situs inversus totalis, Respiratory distress, Bronchiectasis, Ciliary dyskinesia, Nasal polyposis... |
OMIM:606763 |
| Congenital Pulmonary Lymphangiectasia |
|
Chronic pulmonary obstruction, Respiratory distress, Pleural effusion, Cough, Pulmonic stenosis, ... |
ORPHA:2414 |
| Spondyloepimetaphyseal Dysplasia, X-Linked |
|
Short phalanx of finger, Broad long bone diaphyses, Metaphyseal irregularity, Flared iliac wing, ... |
OMIM:300106 |
| Cutis Laxa, Autosomal Dominant 1 |
|
Redundant skin, Emphysema, Prematurely aged appearance, Progeroid facial appearance |
OMIM:123700 |
| Stüve-Wiedemann Syndrome |
|
Scoliosis, Abnormality of the metaphysis, Elbow flexion contracture, Thickened cortex of long bon... |
ORPHA:3206 |
| Short Stature, Developmental Delay, And Congenital Heart Defects |
|
Patent foramen ovale, Atrial septal defect, Ventricular septal defect |
OMIM:617044 |
| Hyperparathyroidism, Transient Neonatal |
|
Osteopenia, Femoral bowing, Respiratory distress |
OMIM:618188 |
| Atelosteogenesis Type Ii |
|
Short phalanx of finger, Elbow dislocation, Hitchhiker thumb, Camptodactyly, Sandal gap, Metatars... |
ORPHA:56304 |
| Succinic Acidemia |
|
Respiratory distress |
OMIM:600335 |
| Larsen Syndrome |
|
Scoliosis, Short metatarsal, Joint laxity, Elbow dislocation, Spina bifida occulta, Bronchomalaci... |
OMIM:150250 |
| Arterial Tortuosity Syndrome |
|
Scoliosis, Prematurely aged appearance, Craniosynostosis, Pulmonary artery stenosis, Myocarditis,... |
ORPHA:3342 |
| Atelosteogenesis, Type I |
|
Short metatarsal, Elbow dislocation, Thoracic platyspondyly, Multinucleated giant chondrocytes in... |
OMIM:108720 |
| Keppen-Lubinsky Syndrome |
|
Scoliosis, Narrow naris, Dyspnea, Underdeveloped nasal alae, Premature skin wrinkling, Flexion co... |
ORPHA:435628 |
| Desbuquois Dysplasia 2 |
|
Broad thumb, Short phalanx of finger, Cutaneous syndactyly, Joint laxity, Flat acetabular roof, T... |
OMIM:615777 |
| Radio-Renal Syndrome |
|
Hypoplasia of the radius, Dyspnea, Respiratory distress, Abnormal form of the vertebral bodies, P... |
ORPHA:3015 |
| Cardiac-Valvular Ehlers-Danlos Syndrome |
|
Hypermobility of distal interphalangeal joints, Genu valgum, Recurrent shoulder dislocation, Atri... |
ORPHA:230851 |
| Combined Oxidative Phosphorylation Deficiency 19 |
|
Respiratory distress |
OMIM:615595 |
| Hutchinson-Gilford Progeria Syndrome |
|
Limited wrist movement, Ventricular hypertrophy, Exertional dyspnea, Limited shoulder movement, J... |
ORPHA:740 |
| Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
|
Platyspondyly, Distal shortening of limbs, Short nose, Rhizomelia, Metaphyseal cupping of metacar... |
OMIM:300863 |
| Arthrogryposis, Distal, Type 5D |
|
Scoliosis, Hyperlordosis, Arthrogryposis multiplex congenita, Short neck, Bulbous nose, Camptodac... |
OMIM:615065 |
| Mitochondrial Complex I Deficiency, Nuclear Type 35 |
|
Pulmonary arterial hypertension, Neonatal respiratory distress, Neonatal death, Pulmonary hypopla... |
OMIM:619003 |
| Three M Syndrome 3 |
|
Hip dysplasia, Prominent calcaneus, Hyperlordosis, Increased vertebral height, Short neck, Joint ... |
OMIM:614205 |
| 16P13.11 Microduplication Syndrome |
|
Tetralogy of Fallot, Atrial septal defect, Transposition of the great arteries, Ventricular septa... |
ORPHA:261243 |
| Neural Tube Defects, Folate-Sensitive |
|
Spinal dysraphism |
OMIM:601634 |
| Thanatophoric Dysplasia, Type I |
|
Metaphyseal irregularity, Hypoplastic ilia, Short greater sciatic notch, Bowing of the long bones... |
OMIM:187600 |
| Xk Aprosencephaly Syndrome |
|
Atrial septal defect, Ventricular septal defect |
ORPHA:3469 |
| Hemorrhagic Fever-Renal Syndrome |
|
Pleural effusion, Abnormal pericardium morphology, Respiratory insufficiency, Atelectasis, Hemopt... |
ORPHA:340 |
| Peripheral Dysostosis |
|
Hip osteoarthritis, Cone-shaped epiphyses of the phalanges of the hand, Short phalanx of finger |
OMIM:170700 |
| Primary Non-Essential Cutis Verticis Gyrata |
|
Atrial septal defect, Ventricular septal defect |
ORPHA:357225 |
| Glutamine Deficiency, Congenital |
|
Apnea, Short nose, Camptodactyly, Flexion contracture, Wide nasal bridge, Erythema, Neonatal resp... |
OMIM:610015 |
| Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Atrial septal defect, Pallor, Ventricular septal defect |
ORPHA:49827 |
| Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
|
Scoliosis, Hyperlordosis, Hypoventilation, Flexion contracture, Respiratory insufficiency, Atelec... |
ORPHA:258 |
| Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome |
|
Spina bifida, Hypoplastic left heart, Anencephaly, Ventricular septal defect |
ORPHA:2476 |
| Progeroid Syndrome, Petty Type |
|
Prematurely aged appearance, Redundant skin, Cutis laxa, Short distal phalanx of finger, Decrease... |
ORPHA:2963 |
| Granddad Syndrome |
|
Intrauterine growth retardation, Reduced subcutaneous adipose tissue, Progeroid facial appearance... |
OMIM:138920 |
| Renal Dysplasia-Limb Defects Syndrome |
|
Hypoplasia of the radius, Short neck, Respiratory distress, Short sternum, Aplasia of the ulna, S... |
OMIM:266910 |
| Spinal muscular atrophy, type I, with congenital bone fractures |
|
Rocker bottom foot, Congenital hip dislocation, Respiratory distress, Flexion contracture, Multip... |
OMIM:271225 |
| Brachydactyly-Arterial Hypertension Syndrome |
|
Brachydactyly, Short phalanx of finger, Short metacarpal |
ORPHA:1276 |
| Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1 |
|
Osteoporosis, Joint laxity, Palmoplantar cutis laxa, Decreased pulmonary function, Kyphosis, Brui... |
OMIM:225400 |
| Pulmonary Alveolar Proteinosis, Acquired |
|
Lung abscess, Restrictive ventilatory defect, Intraalveolar phospholipid accumulation, Dyspnea, C... |
OMIM:610910 |
| Shwachman-Diamond Syndrome 1 |
|
Proximal femoral metaphyseal irregularity, Metaphyseal sclerosis, Metaphyseal chondrodysplasia, R... |
OMIM:260400 |
| Vertical Talus, Congenital |
|
Rocker bottom foot, Calcaneovalgus deformity, Equinus calcaneus, Arthritis |
OMIM:192950 |
| Cleidocranial Dysplasia |
|
Scoliosis, Hypoplastic frontal sinuses, Increased bone mineral density, Increased susceptibility ... |
OMIM:119600 |
| Relapsing Polychondritis |
|
Dyspnea, Pericarditis, Purpura, Abnormal endocardium morphology, Cough, Abnormal aortic valve mor... |
ORPHA:728 |
| Congenital Heart Defects, Multiple Types, 3 |
|
Tetralogy of Fallot, Atrial septal defect, Abnormal heart morphology |
OMIM:614954 |
| Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations |
|
Scoliosis, Ventricular hypertrophy, Generalized bone demineralization, Short phalanx of finger, E... |
OMIM:143095 |
| Dilated Cardiomyopathy With Ataxia |
|
Dilated cardiomyopathy, Muscular ventricular septal defect |
ORPHA:66634 |
| Chromosome 15Q14 Deletion Syndrome |
|
Atrial septal defect, Ventricular septal defect |
OMIM:616898 |
| Pfeiffer Syndrome Type 3 |
|
Short hallux, Broad thumb, Toe syndactyly, Respiratory distress, Finger syndactyly, Hallux varus,... |
ORPHA:93260 |
| Acromesomelic Dysplasia, Demirhan Type |
|
Aplasia of the proximal phalanges of the hand, Tarsal synostosis, Short phalanx of finger, Short ... |
OMIM:609441 |
| Brown-Vialetto-Van Laere Syndrome 1 |
|
Scoliosis, Dyspnea, Respiratory distress, Kyphosis, Respiratory insufficiency, Hand muscle atroph... |
OMIM:211530 |
| Arthrogryposis Multiplex Congenita 6 |
|
Arthrogryposis multiplex congenita, Death in infancy, Neonatal death, Respiratory failure, Death ... |
OMIM:619334 |
| Beta-Mercaptolactate Cysteine Disulfiduria |
|
Atrial septal defect, Umbilical hernia, Dry skin |
ORPHA:1035 |
| Shashi-Pena Syndrome |
|
Atrial septal defect |
OMIM:617190 |
| Heterotaxy, Visceral, 5, Autosomal |
|
Dextrocardia, Atrial septal defect, Transposition of the great arteries, Ventricular septal defect |
OMIM:270100 |
| Spina Bifida-Hypospadias Syndrome |
|
Spina bifida, Spinal dysraphism |
ORPHA:3176 |
| Wt Limb-Blood Syndrome |
|
Short phalanx of finger, Radioulnar synostosis, Joint contracture of the 5th finger, Ulnar deviat... |
OMIM:194350 |
| Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome |
|
Tracheal atresia, Respiratory insufficiency, Neonatal death, Bilateral lung agenesis, Abnormal ca... |
OMIM:601612 |
| Arthrogryposis, Distal, Type 3 |
|
Camptodactyly of finger, Arthrogryposis multiplex congenita, Decreased hip abduction, Short phala... |
OMIM:114300 |
| Tetrasomy 5P |
|
Short hallux, Short neck, Respiratory distress, Overlapping toe, Short nose, Wide nasal bridge, R... |
ORPHA:3309 |
| Polysyndactyly With Cardiac Malformation |
|
Atrial septal defect, Stillbirth, Ventricular septal defect |
OMIM:263630 |
| Campomelia, Cumming Type |
|
Prematurely aged appearance, Bowing of the long bones, Death in infancy, Abnormally ossified vert... |
ORPHA:1318 |
| Neurooculocardiogenitourinary Syndrome |
|
Atrial septal defect, Ventricular septal defect, Redundant neck skin, Cardiomegaly, Patent forame... |
OMIM:618652 |
| Pde4D Haploinsufficiency Syndrome |
|
Upper limb undergrowth, Short metatarsal, Short phalanx of finger, Short nose, Joint laxity, Shor... |
ORPHA:439822 |
| Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Short phalanx of finger, Metaphyseal irregularity, Flared iliac wing, Iliac crest serration, Flat... |
OMIM:250220 |
| Polydactyly, Postaxial, With Dental And Vertebral Anomalies |
|
Postaxial hand polydactyly, Tarsal synostosis, Toe syndactyly, Broad toe, Short middle phalanx of... |
OMIM:263540 |
| Tularemia |
|
Abnormal nasopharyngeal adenoid morphology, Respiratory distress, Pleural effusion, Cough, Pneumo... |
ORPHA:3392 |
| Heterotaxy, Visceral, 4, Autosomal |
|
Atrioventricular canal defect, Dextrocardia, Ventricular septal defect |
OMIM:613751 |
| Ritscher-Schinzel Syndrome 1 |
|
Atrial septal defect, Ventricular septal defect, Pulmonic stenosis, Aortic valve stenosis, Double... |
OMIM:220210 |
| Neuropathy, Congenital, With Arthrogryposis Multiplex |
|
Hyperlordosis, Arthrogryposis multiplex congenita, Calcaneovalgus deformity |
OMIM:162370 |
| Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome |
|
Recurrent fractures, Reduced bone mineral density, Upper limb asymmetry, Excessive wrinkled skin |
ORPHA:137608 |
| Anaplastic Thyroid Carcinoma |
|
Dyspnea, Respiratory distress, Cough, Laryngotracheal stenosis, Upper airway obstruction, Neoplas... |
ORPHA:142 |
| Episodic Ataxia Type 1 |
|
Hand clenching, Scoliosis, Respiratory distress, Kyphoscoliosis |
ORPHA:37612 |
| Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Ventricular hypertrophy, Premature graying of hair, Premature skin wrinkling, Mitral valve calcif... |
ORPHA:363618 |
| Laryngeal Web, Familial |
|
Laryngeal web, Stridor, Respiratory distress, Recurrent upper respiratory tract infections |
OMIM:150360 |
| Scedosporiosis |
|
Pleuritis, Pericarditis, Endocarditis, Pulmonary fibrosis, Arthralgia/arthritis, Decreased pulmon... |
ORPHA:449280 |
| Bardet-Biedl Syndrome 2 |
|
Dilated cardiomyopathy, Atrial septal defect, Bicuspid aortic valve |
OMIM:615981 |
| Brachydactyly, Type E, With Atrial Septal Defect, Type Ii |
|
Atrial septal defect |
OMIM:113301 |
| 17Q23.1Q23.2 Microdeletion Syndrome |
|
Coxa magna, Scoliosis, Atrial septal defect, Dyspnea, Bulbous nose, Abnormality of epiphysis morp... |
ORPHA:261279 |
| Atrial Septal Defect 6 |
|
Atrial septal defect |
OMIM:613087 |
| Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion |
|
Apnea, Hypoventilation, Respiratory distress, Short nose, Abnormal heart morphology, Polydactyly,... |
ORPHA:314655 |
| Synaptic Congenital Myasthenic Syndromes |
|
Scoliosis, Limited wrist extension, Hand muscle weakness, Sleep apnea, Scapular winging, Respirat... |
ORPHA:98915 |
| Lymphangioleiomyomatosis |
|
Restrictive ventilatory defect, Dyspnea, Emphysema, Cough, Atelectasis, Chylothorax, Pulmonary ly... |
ORPHA:538 |
| Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted |
|
Hip dysplasia, Scoliosis, Atrial septal defect, Respiratory distress, Bulbous nose, Joint laxity,... |
OMIM:300968 |
| Weaver Syndrome |
|
Scoliosis, Broad thumb, Camptodactyly, Cutis laxa, Metatarsus adductus, Prominent fingertip pads,... |
OMIM:277590 |
| Avian Influenza |
|
Ground-glass opacification, Dyspnea, Respiratory distress, Pleural effusion, Cough, Nonproductive... |
ORPHA:454836 |
| De Barsy Syndrome |
|
Congenital hip dislocation, Prominent veins on trunk, Dermal translucency, Ventricular septal def... |
ORPHA:2962 |
| Acrodysostosis 2 With Or Without Hormone Resistance |
|
Short metatarsal, Short phalanx of finger, Anteverted nares, Short nose, Cone-shaped epiphysis, S... |
OMIM:614613 |
| Dwarfism With Stiff Joints And Ocular Abnormalities |
|
Short phalanx of finger, Delayed ossification of carpal bones, Lower limb undergrowth, Joint stif... |
OMIM:127200 |
| Hadziselimovic Syndrome |
|
Atrial septal defect, Tetralogy of Fallot, Ventricular hypertrophy, Ventricular septal defect |
OMIM:612946 |
| Atrial Septal Defect 8 |
|
Anomalous pulmonary venous return, Atrial septal defect |
OMIM:614433 |
| Progressive Supranuclear Palsy-Corticobasal Syndrome |
|
Hand clenching, Respiratory distress |
ORPHA:240103 |
| Mucopolysaccharidosis-Plus Syndrome |
|
Atrial septal defect, Respiratory distress, Flared iliac wing, Flexion contracture, Recurrent bro... |
OMIM:617303 |
| Progeria-Short Stature-Pigmented Nevi Syndrome |
|
Prematurely aged appearance, Central sleep apnea, Lack of facial subcutaneous fat, Progeroid faci... |
ORPHA:2959 |
| 22Q11.2 Deletion Syndrome |
|
Scoliosis, Bulbous nose, Choanal atresia, Short neck, Truncus arteriosus, Purpura, Joint hyperfle... |
ORPHA:567 |
| Linear Skin Defects With Multiple Congenital Anomalies 2 |
|
Tetralogy of Fallot, Ventricular hypertrophy, Atrial septal defect |
OMIM:300887 |
| Hypomandibular Faciocranial Dysostosis |
|
Atrial septal defect |
OMIM:241310 |
| Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency |
|
Ventilator dependence with inability to wean, Respiratory failure requiring assisted ventilation,... |
ORPHA:254864 |
| 8Q12 Microduplication Syndrome |
|
Atrial septal defect, Ventricular septal defect |
ORPHA:228399 |
| Wiedemann-Rautenstrauch Syndrome |
|
Joint hypermobility, Prominent scalp veins, Long toe, Thin long bone diaphyses, Hypoplastic verte... |
ORPHA:3455 |
| Atrial Septal Defect 1 |
|
Atrial septal defect, Atrial septal dilatation, Ventricular septal defect, Secundum atrial septal... |
OMIM:108800 |
| Congenital Lobar Emphysema |
|
Emphysema, Respiratory distress |
ORPHA:1928 |
| Classical-Like Ehlers-Danlos Syndrome Type 2 |
|
Joint hypermobility, Elbow dislocation, Phalangeal dislocation, Pericardial effusion, Sandal gap,... |
ORPHA:536532 |
| Three M Syndrome 2 |
|
Prominent calcaneus, Hyperlordosis, Scapular winging, Anteverted nares, Slender long bone, Lumbar... |
OMIM:612921 |
| Neonatal Acute Respiratory Distress Due To Sp-B Deficiency |
|
Pulmonary opacity, Intraalveolar phospholipid accumulation, Interstitial pneumonitis, Abnormal pu... |
ORPHA:217563 |
| Aortic Valve Disease 3 |
|
Aortic valve stenosis, Atrial septal defect, Bicuspid aortic valve |
OMIM:618496 |
| Noonan Syndrome With Multiple Lentigines |
|
Scoliosis, Scapular winging, Abnormal mitral valve morphology, Abnormal endocardium morphology, A... |
ORPHA:500 |
| Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Apnea, Respiratory distress, Bulbous nose, Tapered toe, Respiratory insufficiency, Long toe, Resp... |
OMIM:608836 |
| Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities |
|
Overlapping fingers, Scoliosis, Atrial septal defect, Respiratory distress, Overlapping toe, Shor... |
OMIM:619383 |
| Hypertelorism And Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Mental Retardation, And Recurrent Inflammatory Episodes |
|
Short phalanx of finger, Pericardial effusion, Wide nasal bridge, Clinodactyly, Small hand, Broad... |
OMIM:614684 |
| Satb2-Associated Syndrome Due To A Chromosomal Rearrangement |
|
Broad thumb, Increased susceptibility to fractures, Short neck, Wide nose, Slender finger, Osteop... |
ORPHA:251028 |
| Right Atrial Isomerism |
|
Right atrial isomerism, Situs inversus totalis, Single ventricle, Atrial septal defect, Ventricul... |
OMIM:208530 |
| Li-Campeau Syndrome |
|
Patent foramen ovale, Atrial septal defect, Ventricular septal defect |
OMIM:619189 |
| Meier-Gorlin Syndrome 1 |
|
Absent glenoid fossa, Joint laxity, Elbow dislocation, Camptodactyly, Hemivertebrae, Genu valgum,... |
OMIM:224690 |
| Focal Facial Dermal Dysplasia Type Iii |
|
Redundant skin, Prematurely aged appearance, Wide nasal bridge, Abnormal sacroiliac joint morphology |
ORPHA:1807 |
| Anti-Glomerular Basement Membrane Disease |
|
Purpura, Cough, Respiratory insufficiency, Hemoptysis, Pulmonary infiltrates, Arthritis |
ORPHA:375 |
| Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly |
|
Muscular ventricular septal defect |
OMIM:618569 |
| Larsen-Like Syndrome |
|
Absent nasal bridge, Joint laxity, Radial deviation of the 4th finger, Kyphoscoliosis, Talipes eq... |
OMIM:608545 |
| Severe X-Linked Intellectual Disability, Gustavson Type |
|
Rocker bottom foot, Congenital hip dislocation, Short nose, Recurrent upper respiratory tract inf... |
ORPHA:3078 |
| Esophageal Atresia |
|
Scoliosis, Laryngotracheomalacia, Choanal atresia, Cyanosis, Respiratory distress, Aspiration, Cl... |
ORPHA:1199 |
| Malaria |
|
Respiratory distress |
ORPHA:673 |
| Hypertelorism And Tetralogy Of Fallot |
|
Patent foramen ovale, Tetralogy of Fallot, Tetralogy of Fallot with absent pulmonary valve, Spina... |
OMIM:239711 |
| Diffuse Alveolar Hemorrhage |
|
Ground-glass opacification, Restrictive ventilatory defect, Dyspnea, Pulmonary fibrosis, Cough, R... |
ORPHA:90060 |
| Lenz-Majewski Hyperostotic Dwarfism |
|
Scoliosis, Prematurely aged appearance, Choanal atresia, Abnormality of the metacarpal bones, Inc... |
ORPHA:2658 |
| Heterotaxy, Visceral, 7, Autosomal |
|
Atrial septal defect, Situs inversus totalis, Abnormal tricuspid valve morphology, Mitral atresia... |
OMIM:616749 |
| Nicolaides-Baraitser Syndrome |
|
Scoliosis, Short metatarsal, Short phalanx of finger, Anteverted nares, Sandal gap, Prominent int... |
OMIM:601358 |
| Congenital Myasthenic Syndrome |
|
Episodic respiratory distress, Central sleep apnea, Sudden episodic apnea, Congenital hip disloca... |
ORPHA:590 |
| Presynaptic Congenital Myasthenic Syndromes |
|
Episodic respiratory distress, Central sleep apnea, Sudden episodic apnea, Congenital hip disloca... |
ORPHA:98914 |
| Frontometaphyseal Dysplasia |
|
Scoliosis, Limited wrist movement, Craniosynostosis, Short metatarsal, Short phalanx of finger, B... |
ORPHA:1826 |
| Noonan Syndrome 8 |
|
Atrial septal defect, Ventricular septal defect, Palmoplantar cutis laxa, Pulmonic stenosis, Left... |
OMIM:615355 |
| Ulnar/Fibula Ray Defect-Brachydactyly Syndrome |
|
Atrial septal defect |
ORPHA:52056 |
| Focal Facial Dermal Dysplasia 3, Setleis Type |
|
Bulbous nose, Aged leonine appearance, Depressed nasal bridge |
OMIM:227260 |
| Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness |
|
Genu valgum, Short phalanx of finger, Epiphyseal dysplasia, Brachydactyly, Coxa valga |
OMIM:132450 |
| Du Pan Syndrome |
|
Fibular aplasia, Short metatarsal, Short phalanx of finger, Rhizomelia, Fibular hypoplasia, Absen... |
OMIM:228900 |
| Mitochondrial Pyruvate Carrier Deficiency |
|
Respiratory distress |
OMIM:614741 |
| Congenital Heart Defects, Multiple Types, 2 |
|
Abnormal left ventricular outflow tract morphology, Subvalvular aortic stenosis, Ventricular sept... |
OMIM:614980 |
| Seckel Syndrome |
|
Hip dysplasia, Scoliosis, Prematurely aged appearance, Craniosynostosis, Joint hyperflexibility, ... |
ORPHA:808 |
| Paternal 20Q13.2Q13.3 Microdeletion Syndrome |
|
Intrauterine growth retardation, Respiratory distress, Bulbous nose, Wide nasal bridge |
ORPHA:261304 |
| Tatton-Brown-Rahman Syndrome |
|
Atrial septal defect, Umbilical hernia |
OMIM:615879 |
| Wiedemann-Rautenstrauch Syndrome |
|
Scoliosis, Short femur, Premature skin wrinkling, Hypoplastic ilia, Flexion contracture, Large ha... |
OMIM:264090 |
| 46,Xx Sex Reversal 5 |
|
Secundum atrial septal defect, Hypoplastic left heart, Ventricular septal defect |
OMIM:618901 |
| Autism Spectrum Disorder Due To Auts2 Deficiency |
|
Atrial septal defect, Umbilical hernia, Abnormal heart morphology |
ORPHA:352490 |
| Pneumocystosis |
|
Dyspnea, Interstitial pneumonitis, Exertional dyspnea, Pleural effusion, Nonproductive cough, Res... |
ORPHA:723 |
| Wrinkly Skin Syndrome |
|
Scoliosis, Deep palmar crease, Joint hypermobility, Scapular winging, Congenital hip dislocation,... |
OMIM:278250 |
| Wiedemann-Steiner Syndrome |
|
Short phalanx of finger, Short middle phalanx of finger, Sacral dimple, Wide nasal bridge, Short ... |
OMIM:605130 |
| Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Tachypnea, Cardiomegaly, Respiratory insufficiency, Atelectasis |
OMIM:618278 |
| Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism |
|
Dilated cardiomyopathy, Short phalanx of finger, Premature graying of hair, Abnormal hand morphol... |
OMIM:300845 |
| Autosomal Recessive Cutis Laxa Type 2, Classic Type |
|
Short nose, Congenital hip dislocation, Prominent veins on trunk, Generalized joint laxity, Redun... |
ORPHA:357074 |
| Gaucher Disease, Type I |
|
Erlenmeyer flask deformity of the femurs, Dyspnea, Epistaxis, Abnormal pulmonary interstitial mor... |
OMIM:230800 |
| Pulmonary Hemosiderosis |
|
Pulmonary fibrosis, Recurrent intrapulmonary hemorrhage, Respiratory insufficiency, Transient pul... |
OMIM:178550 |
| 14Q24.1Q24.3 Microdeletion Syndrome |
|
Ventricular septal defect, Atrial septal defect, Truncus arteriosus, Abnormal heart morphology |
ORPHA:401935 |
| Autoimmune Pulmonary Alveolar Proteinosis |
|
Restrictive ventilatory defect, Intraalveolar phospholipid accumulation, Dyspnea, Cough, Hypoxemi... |
ORPHA:747 |
| Xfe Progeroid Syndrome |
|
Scoliosis, Prematurely aged appearance, Dry skin |
OMIM:610965 |
| Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects |
|
Ventricular septal defect, Secundum atrial septal defect, Left ventricular hypertrophy, Tetralogy... |
OMIM:108900 |
| Cardiofaciocutaneous Syndrome 3 |
|
Pulmonic stenosis, Ventricular septal defect, Atrial septal defect, Hypertrophic cardiomyopathy |
OMIM:615279 |
| Autosomal Recessive Cutis Laxa Type 2A |
|
Joint hypermobility, Congenital hip dislocation, Progeroid facial appearance, Excessive wrinkled ... |
ORPHA:357058 |
| Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type |
|
Scoliosis, Epiphyseal stippling, Hip subluxation, Short phalanx of finger, Tracheal calcification... |
OMIM:271665 |
| Dislocation Of Hip, Congenital, With Hyperextensibility Of Fingers And Facial Dysmorphism |
|
Patent foramen ovale, Atrial septal defect |
OMIM:601450 |
| Li-Ghorbani-Weisz-Hubshman Syndrome |
|
Atrial septal defect, Ventricular septal defect |
OMIM:618974 |
| Congenital Disorder Of Glycosylation, Type Ix |
|
Intrauterine growth retardation, Death in childhood, Respiratory distress |
OMIM:615597 |
| Microlissencephaly-Micromelia Syndrome |
|
Short neck, Short nose, Respiratory distress, Bilateral single transverse palmar creases, Adducte... |
ORPHA:50810 |
| Progressive Supranuclear Palsy-Parkinsonism Syndrome |
|
Respiratory distress |
ORPHA:240085 |
| Ehlers-Danlos Syndrome, Cardiac Valvular Type |
|
Mitral valve prolapse, Calcaneovalgus deformity, Joint laxity, Bruising susceptibility |
OMIM:225320 |
| Cardiofaciocutaneous Syndrome |
|
Scoliosis, Cubitus valgus, Genu valgum, Deep palmar crease, Atrial septal defect, Short nose, Pal... |
ORPHA:1340 |
| Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Osteolytic defects of the distal phalanges of the hand, Acroosteolysis of distal phalanges (feet)... |
ORPHA:90154 |
| Ataxia-Telangiectasia |
|
Prematurely aged appearance, Premature graying of hair, Telangiectasia of the skin, Mucosal telan... |
ORPHA:100 |
| Combined Osteogenesis Imperfecta And Ehlers-Danlos Syndrome 1 |
|
Dermal translucency, Atrial septal defect, Bruising susceptibility, Poor wound healing |
OMIM:619115 |
| Fetal Trimethadione Syndrome |
|
Tetralogy of Fallot, Atrial septal defect, Transposition of the great arteries, Ventricular septa... |
ORPHA:1913 |
| Kaposiform Lymphangiomatosis |
|
Abnormal humerus morphology, Abnormal lung morphology, Dyspnea, Osteolysis, Abnormality of the is... |
ORPHA:464329 |
| Martsolf Syndrome 1 |
|
Short phalanx of finger, Broad nasal tip, Joint laxity, Cardiomyopathy, Slender ulna, Short metac... |
OMIM:212720 |
| Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Abnormal ilium morphology, Craniosynostosis, Short phalanx of finger, Bulbous nose, Acetabular dy... |
ORPHA:508533 |
| Slc35A1-Cdg |
|
Pulmonary hemorrhage, Respiratory distress, Pneumonia, Subcutaneous hemorrhage, Hypoxemia |
ORPHA:238459 |
| Short Syndrome |
|
Joint hyperflexibility, Wide nasal bridge, Brachydactyly, Excessive wrinkled skin, Short palm |
ORPHA:3163 |
| Mandibulofacial Dysostosis, Guion-Almeida Type |
|
Preaxial hand polydactyly, Atrial septal defect, Respiratory distress, Short nose, Ventricular se... |
OMIM:610536 |
| Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome |
|
Postaxial hand polydactyly, Atrial septal defect, Respiratory distress, Ventricular septal defect... |
ORPHA:2519 |
| Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Atrial septal defect, Situs inversus totalis, Cardiomyopathy, Ventricular septal defect |
OMIM:249270 |
| Symphalangism, Distal, With Microdontia, Dental Pulp Stones, And Narrowed Zygomatic Arch |
|
Aplasia/Hypoplasia of the middle phalanges of the hand, Short phalanx of finger, Distal symphalan... |
OMIM:606895 |
| Oculocerebrorenal Syndrome Of Lowe |
|
Scoliosis, Genu valgum, Platyspondyly, Abnormality of epiphysis morphology, Joint hyperflexibilit... |
ORPHA:534 |
| Diffuse Cutaneous Systemic Sclerosis |
|
Osteolysis, Dyspnea, Pulmonary fibrosis, Flexion contracture, Telangiectasia of the skin, Pulmona... |
ORPHA:220393 |
| Agnathia-Otocephaly Complex |
|
Situs inversus totalis, Respiratory distress, Laryngeal hypoplasia, Tracheomalacia, Hypoplasia of... |
OMIM:202650 |
| Andersen Cardiodysrhythmic Periodic Paralysis |
|
Scoliosis, Scapular winging, Short metatarsal, Short phalanx of finger, Toe syndactyly, Bulbous n... |
OMIM:170390 |
| White Forelock With Malformations |
|
Atrial septal defect, Spina bifida occulta |
ORPHA:2475 |
| Acrootoocular Syndrome |
|
Small thenar eminence, Small hypothenar eminence, Prominent calcaneus, Short toe, Short finger, A... |
ORPHA:2980 |
| Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Osteolytic defects of the distal phalanges of the hand, Acroosteolysis of distal phalanges (feet)... |
ORPHA:90153 |
| Thanatophoric Dysplasia Type 2 |
|
Holoprosencephaly, Atrial septal defect, Redundant skin, Hydrocephalus |
ORPHA:93274 |
| Zygomycosis |
|
Air crescent sign, Osteolysis, Endocarditis, Pericarditis, Parenchymal consolidation, Pleural eff... |
ORPHA:73263 |
| Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive |
|
Respiratory distress, Lymphocytic interstitial pneumonia |
OMIM:245590 |
| Gaucher Disease, Perinatal Lethal |
|
Apnea, Arthrogryposis multiplex congenita, Respiratory distress, Short nose, Purpura, Desquamatio... |
OMIM:608013 |
| Meckel Syndrome, Type 4 |
|
Atrial septal defect, Ventricular septal defect, Anencephaly, Meningocele, Hydrocephalus |
OMIM:611134 |
| Diamond-Blackfan Anemia 6 |
|
Atrial septal defect, Ventricular hypertrophy, Ventricular septal defect, Mitral valve prolapse, ... |
OMIM:612561 |
| Craniosynostosis And Dental Anomalies |
|
Craniosynostosis, Short phalanx of finger, Lambdoidal craniosynostosis, Sagittal craniosynostosis... |
OMIM:614188 |
| Acrodysostosis 1 With Or Without Hormone Resistance |
|
Scoliosis, Dislocated radial head, Epiphyseal stippling, Short metatarsal, Short phalanx of finge... |
OMIM:101800 |
| Recombinant Chromosome 8 Syndrome |
|
Atrial septal defect, Ventricular septal defect, Pulmonic stenosis, Double outlet right ventricle... |
OMIM:179613 |
| Congenital Rubella Syndrome |
|
Jaundice, Atrial septal defect, Ventricular septal defect |
ORPHA:290 |
| Nipah Virus Disease |
|
Recurrent pharyngitis, Cough, Respiratory distress |
ORPHA:99825 |
| Congenital Heart Defects, Multiple Types, 6 |
|
Single ventricle, Ventricular septal defect, Complete atrioventricular canal defect, Secundum atr... |
OMIM:613854 |
| Scimitar Syndrome |
|
Single ventricle, Cough, Bronchogenic cyst, Dextrocardia, Double outlet right ventricle, Pulmonar... |
ORPHA:185 |
| Eosinophilia, Familial |
|
Recurrent bronchitis, Pulmonary infiltrates, Myocardial eosinophilic infiltration |
OMIM:131400 |
| Marfanoid-Progeroid-Lipodystrophy Syndrome |
|
Scapular winging, Craniosynostosis, Mitral valve prolapse, Kyphosis, Progeroid facial appearance,... |
OMIM:616914 |
| Thanatophoric Dysplasia |
|
Redundant skin, Atrial septal defect, Hydrocephalus |
ORPHA:2655 |
| Hypoglossia With Situs Inversus |
|
Upper airway obstruction, Situs inversus totalis, Respiratory distress |
OMIM:612776 |
| Mcdonough Syndrome |
|
Pulmonic stenosis, Aortic valve stenosis, Atrial septal defect, Ventricular septal defect |
OMIM:248950 |
| Ehlers-Danlos Syndrome, Dermatosparaxis Type |
|
Short phalanx of finger, Joint laxity, Redundant skin, Limb undergrowth, Fragile skin, Spontaneou... |
OMIM:225410 |
| Cardiac Septal Defects With Coarctation Of The Aorta |
|
Secundum atrial septal defect, Perimembranous ventricular septal defect |
OMIM:212090 |
| Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy |
|
Scoliosis, Short nose, Respiratory distress, Osteopenia, Contractures of the large joints, Recurr... |
ORPHA:329178 |
| Pseudoxanthoma Elasticum |
|
Scoliosis, Abnormal endocardium morphology, Restrictive cardiomyopathy, Joint hyperflexibility, B... |
ORPHA:758 |
| Congenital Alveolar Capillary Dysplasia |
|
Pulmonary valve atresia, Atrial septal defect, Respiratory distress, Abnormal vertebral morpholog... |
ORPHA:210122 |
| Gapo Syndrome |
|
Prematurely aged appearance, Anteverted nares, Abnormal form of the vertebral bodies, Joint hyper... |
ORPHA:2067 |
| Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Scoliosis, Absent glenoid fossa, Epiphyseal stippling, Camptodactyly, Cutis laxa, Hemivertebrae, ... |
ORPHA:96334 |
| Chromosome 17Q23.1-Q23.2 Deletion Syndrome |
|
Atrial septal defect, Bicuspid aortic valve |
OMIM:613355 |
| Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis |
|
Osteolysis, Periostitis, Respiratory distress, Pulmonary fibrosis, Osteopenia, Fused cervical ver... |
OMIM:612852 |
| Werner Syndrome |
|
Osteoporosis, Rocker bottom foot, Prematurely aged appearance, Premature graying of hair, Subcuta... |
ORPHA:902 |
| Cutis Laxa, Autosomal Recessive, Type Iiib |
|
Cutis laxa, Elbow flexion contracture, Excessive wrinkled skin, Dermal translucency |
OMIM:614438 |
| Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies |
|
Atrial septal defect, Ventricular septal defect, Double outlet right ventricle, Patent foramen ov... |
OMIM:618316 |
| Hypereosinophilic Syndrome, Idiopathic |
|
Restrictive cardiomyopathy, Pulmonary infiltrates, Endocardial fibrosis |
OMIM:607685 |
| Cystic Echinococcosis |
|
Abnormality of the vertebral column, Abnormal heart morphology, Bone cyst, Pulmonary cyst, Jaundi... |
ORPHA:400 |
| Microcephaly-Capillary Malformation Syndrome |
|
Patent foramen ovale, Atrial septal defect, Right ventricular hypertrophy, Ventricular septal defect |
OMIM:614261 |
| Thyroid Lymphoma |
|
Upper airway obstruction, Stridor, Dyspnea, Respiratory distress |
ORPHA:97285 |
| Idiopathic Neonatal Atrial Flutter |
|
Tachypnea, Respiratory distress |
ORPHA:45452 |
| Surfactant Metabolism Dysfunction, Pulmonary, 5 |
|
Ground-glass opacification, Intraalveolar phospholipid accumulation, Dyspnea, Interlobular septal... |
OMIM:614370 |
| Boomerang Dysplasia |
|
Underdeveloped nasal alae, Wide nasal bridge, Hypoplastic nasal septum, Neonatal death, Hypoplast... |
OMIM:112310 |
| Whim Syndrome |
|
Respiratory tract infection, Bronchiectasis, Recurrent upper respiratory tract infections, Pneumo... |
ORPHA:51636 |
| Codas Syndrome |
|
Scoliosis, Genu valgum, Squared iliac bones, Atrial septal defect, Short phalanx of finger, Conge... |
OMIM:600373 |
| Congenital Pulmonary Valvar Stenosis |
|
Atrial septal defect |
ORPHA:3189 |
| Feingold Syndrome Type 1 |
|
Multiple muscular ventricular septal defects, Tricuspid stenosis, Tricuspid atresia, Abnormal hea... |
ORPHA:391641 |
| Mental Retardation, Buenos Aires Type |
|
Atrial septal defect, Hydrocephalus |
OMIM:249630 |
| Aplasia Cutis Congenita |
|
Spinal dysraphism, Skin ulcer |
ORPHA:1114 |
| Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Craniosynostosis, Broad thumb, Short metatarsal, Short phalanx of finger, Flared iliac wing, Spli... |
OMIM:609945 |
| Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
|
Spina bifida, Anomalous pulmonary venous return, Atrial septal defect, Abnormal aortic valve morp... |
ORPHA:1120 |
| Heterotaxy, Visceral, 8, Autosomal |
|
Unbalanced atrioventricular canal defect, Ventricular septal defect, Atrial situs ambiguous, Doub... |
OMIM:617205 |
| Mental Retardation, Autosomal Recessive 65 |
|
Atrial septal defect |
OMIM:618109 |
| Down Syndrome |
|
Prematurely aged appearance, Short neck, Short nose, Joint laxity, Bilateral single transverse pa... |
ORPHA:870 |
| Hypermethioninemia Due To Adenosine Kinase Deficiency |
|
Pulmonic stenosis, Atrial septal defect |
OMIM:614300 |
| Megalencephaly |
|
Atrial septal defect |
ORPHA:2477 |
| Laryngotracheoesophageal Cleft |
|
Dyspnea, Cough, Laryngeal cleft, Recurrent respiratory infections, Laryngomalacia, Neonatal respi... |
ORPHA:2004 |
| N-Acetylglutamate Synthase Deficiency |
|
Respiratory distress |
OMIM:237310 |
| Idiopathic Hypereosinophilic Syndrome |
|
Dyspnea, Respiratory distress, Myelofibrosis, Pulmonary fibrosis, Urticaria, Pleural effusion, Co... |
ORPHA:3260 |
| Chand Syndrome |
|
Short fifth metatarsal, Depressed nasal bridge, Dry skin, Atelectasis |
ORPHA:1401 |
| Trichorhinophalangeal Syndrome Type 1 And 3 |
|
Scoliosis, Camptodactyly of finger, Hyperlordosis, Short metatarsal, Bulbous nose, Shortening of ... |
ORPHA:77258 |
| Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
|
Respiratory distress, Generalized abnormality of skin, Flexion contracture, Respiratory insuffici... |
ORPHA:367 |
| Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type |
|
Platyspondyly, Shortening of all phalanges of fingers, Mesomelia, Limb undergrowth, Shortening of... |
OMIM:601356 |
| Timothy Syndrome |
|
Patent foramen ovale, Tetralogy of Fallot, Cardiomegaly, Ventricular septal defect |
OMIM:601005 |
| Acitretin/Etretinate Embryopathy |
|
Atrioventricular canal defect, Abnormality of the calcaneus, Hypoplastic nasal septum, Aplasia/hy... |
ORPHA:40366 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Broad thumb, Short phalanx of finger, Carpal bone hypoplasia, Death in infancy, Phocomelia, Shoul... |
OMIM:274000 |
| Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1 |
|
Atrial septal defect, Spinal dysraphism, Aortic valve stenosis, Hypoplastic left heart, Mitral st... |
OMIM:617660 |
| Acquired Methemoglobinemia |
|
Hypoxemia, Cyanosis, Dyspnea, Respiratory distress |
ORPHA:464453 |
| Stt3B-Cdg |
|
Intrauterine growth retardation, Respiratory distress |
ORPHA:370924 |
| 3C Syndrome |
|
Atrial septal defect, Ventricular septal defect, Abnormal tricuspid valve morphology, Abnormal mi... |
ORPHA:7 |
| Eosinophilic Granulomatosis With Polyangiitis |
|
Acrocyanosis, Endocarditis, Purpura, Abnormal pleura morphology, Cough, Nasal polyposis, Myocardi... |
ORPHA:183 |
| Frank-Ter Haar Syndrome |
|
Short phalanx of finger, Camptodactyly, Metatarsus adductus, Double outlet right ventricle, Corti... |
OMIM:249420 |
| Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Deep palmar crease, Atrial septal defect, Short neck, Respiratory distress, Short nose, Patent fo... |
ORPHA:505248 |
| Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Hand polydactyly, Short phalanx of finger, Metaphyseal irregularity, Hypoplastic pelvis, Irregula... |
OMIM:208500 |
| Holocarboxylase Synthetase Deficiency |
|
Desquamation of skin soon after birth, Tachypnea, Respiratory distress |
ORPHA:79242 |
| X-Linked Intellectual Disability, Hedera Type |
|
Scoliosis, Left ventricular hypertrophy, Calcaneovalgus deformity, Hyporeflexia of upper limbs |
ORPHA:93952 |
| Surfactant Metabolism Dysfunction, Pulmonary, 4 |
|
Ground-glass opacification, Restrictive ventilatory defect, Intraalveolar phospholipid accumulati... |
OMIM:300770 |
| Prader-Willi Syndrome Due To Translocation |
|
Scoliosis, Short neck, Respiratory distress, Overlapping toe, Broad nasal tip, Clinodactyly of th... |
ORPHA:177907 |
| Beare-Stevenson Cutis Gyrata Syndrome |
|
Limited elbow extension, Craniosynostosis, Respiratory distress, Palmoplantar cutis laxa, Choanal... |
OMIM:123790 |
| 20P12.3 Microdeletion Syndrome |
|
Atrial septal defect |
ORPHA:261295 |
| Acquired Partial Lipodystrophy |
|
Progeroid facial appearance |
ORPHA:79087 |
| Cockayne Syndrome |
|
Scoliosis, Premature skin wrinkling, Abnormality of epiphysis morphology, Kyphosis, Reduced subcu... |
ORPHA:191 |
| Bone Dysplasia, Lethal Holmgren Type |
|
Redundant neck skin, Atrial septal defect, Hypertrophic cardiomyopathy |
ORPHA:1842 |
| Cleft Palate, Cardiac Defects, And Mental Retardation |
|
Atrial septal defect, Ventricular septal defect |
OMIM:600987 |
| Bacterial Toxic-Shock Syndrome |
|
Ecchymosis, Respiratory tract infection, Respiratory distress, Scaling skin, Pneumonia, Septic ar... |
ORPHA:36234 |
| Chromosome 2Q37 Deletion Syndrome |
|
Subvalvular aortic stenosis, Short toe, Short metatarsal, Short phalanx of finger, Broad nasal ti... |
OMIM:600430 |
| Frontoocular Syndrome |
|
Pulmonic stenosis, Atrial septal defect |
OMIM:605321 |
| Lessel-Kreienkamp Syndrome |
|
Patent foramen ovale, Pulmonic stenosis, Atrial septal defect, Bicuspid aortic valve |
OMIM:619149 |
| Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Jaundice, Atrial septal defect, Right ventricular hypertrophy, Ventricular septal defect |
OMIM:208085 |
| Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 |
|
Atrial septal defect, Hydrocephalus, Ventricular septal defect |
OMIM:603387 |
| Oculocerebrofacial Syndrome, Kaufman Type |
|
Dyspnea, Arachnodactyly, Respiratory failure, Respiratory distress |
ORPHA:2707 |
| 15Q11.2 Microdeletion Syndrome |
|
Atrial septal defect, Ventricular septal defect, Abnormal heart morphology, Tetralogy of Fallot, ... |
ORPHA:261183 |
| Trichothiodystrophy |
|
Prematurely aged appearance, Craniosynostosis, Bronchospasm, Ventricular septal defect, Thoracic ... |
ORPHA:33364 |
| Hypoplastic Left Heart Syndrome |
|
Atrial septal defect, Hypoplastic left heart, Mitral stenosis, Mitral atresia |
ORPHA:2248 |
| Vater-Like Defects With Pulmonary Hypertension, Laryngeal Webs, And Growth Deficiency |
|
Atrial septal defect, Ventricular septal defect |
OMIM:608406 |
| Abruzzo-Erickson Syndrome |
|
Atrial septal defect |
ORPHA:921 |
| Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Respiratory distress, Jaundice, Neonatal death, Pulmonary hypoplasia, Depressed nasal bridge |
OMIM:231680 |
| Complete Atrioventricular Septal Defect |
|
Wheezing, Elevated pulmonary artery pressure, Complete atrioventricular canal defect, Crackles, D... |
ORPHA:1329 |
| Immunodeficiency 27A |
|
Salmonella osteomyelitis, Pneumonia, Abnormal bronchus physiology, Pulmonary infiltrates, Hypopla... |
OMIM:209950 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Respiratory distress, Cardiomyopathy |
ORPHA:79312 |
| Familial Cutaneous Collagenoma |
|
Atrial septal defect, Cardiomyopathy |
ORPHA:53296 |
| Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome |
|
Atrial septal defect, Ventricular septal defect |
OMIM:618142 |
| Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction |
|
Atrial septal defect, Ventricular septal defect |
OMIM:613870 |
| Congenital Diaphragmatic Hernia |
|
Hypoxemia, Pulmonary hypoplasia, Respiratory distress |
ORPHA:2140 |
| Heterotaxy, Visceral, 1, X-Linked |
|
Atrial septal defect, Single ventricle, Respiratory distress, Ventricular septal defect, Mitral a... |
OMIM:306955 |
| Burn-Mckeown Syndrome |
|
Atrial septal defect, Ventricular septal defect |
OMIM:608572 |
| Partial Atrioventricular Septal Defect |
|
Anomalous pulmonary venous return, Abnormal tricuspid valve morphology, Partial atrioventricular ... |
ORPHA:1330 |
| Coffin-Siris Syndrome 5 |
|
Atrial septal defect |
OMIM:616938 |
| Multiple Carboxylase Deficiency |
|
Tachypnea, Respiratory distress |
ORPHA:148 |
| Fructose-1,6-Bisphosphatase Deficiency |
|
Dyspnea, Respiratory distress, Episodic tachypnea, Apneic episodes in infancy, Intermittent hyper... |
ORPHA:348 |
| Congenital Tracheal Stenosis |
|
Abnormal lung lobation, Wheezing, Dyspnea, Respiratory distress, Abnormal lung morphology, Anomal... |
ORPHA:141127 |
| Hereditary Angioedema Type 1 |
|
Dyspnea, Abnormal respiratory system morphology, Respiratory distress, Inspiratory stridor, Phary... |
ORPHA:100050 |
| Geleophysic Dysplasia 3 |
|
Sleep apnea, Dyspnea, Bulbous nose, Anteverted nares, Subglottic stenosis, Pneumonia, Limb underg... |
OMIM:617809 |
| Wrinkly Skin Syndrome |
|
Deep palmar crease, Congenital hip dislocation, Prominent veins on trunk, Atrial septal dilatatio... |
ORPHA:2834 |
| Seizures-Scoliosis-Macrocephaly Syndrome |
|
Atrial septal defect |
ORPHA:466926 |
| Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities |
|
Pulmonic stenosis, Secundum atrial septal defect |
OMIM:178650 |
| Teebi Hypertelorism Syndrome |
|
Atrial septal defect, Ventricular septal defect |
OMIM:145420 |
| Congenital Tricuspid Valve Dysplasia |
|
Abnormal tricuspid valve leaflet morphology, Anomalous pulmonary venous return, Pericardial effus... |
ORPHA:555874 |
| Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome |
|
Scoliosis, Progressive flexion contractures, Sleep apnea, Atrial septal defect, Short nose, Joint... |
ORPHA:522077 |
| Fanconi Anemia, Complementation Group I |
|
Patent foramen ovale, Atrial septal defect, Pallor, Ventricular septal defect |
OMIM:609053 |
| Ulnar Agenesis And Endocardial Fibroelastosis |
|
Endocardial fibroelastosis, Neonatal death, Hand oligodactyly, Aplasia of the ulna |
OMIM:276822 |
| Noonan Syndrome 5 |
|
Pulmonic stenosis, Atrial septal defect, Hypertrophic cardiomyopathy, Dry skin |
OMIM:611553 |
| Fusariosis |
|
Pulmonary opacity, Air crescent sign, Ground-glass opacification, Lung abscess, Bronchiectasis, P... |
ORPHA:228119 |
| Coccidioidomycosis |
|
Abnormality of long bone morphology, Osteolysis, Respiratory distress, Abnormality of the vertebr... |
ORPHA:228123 |
| Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder |
|
Atrial septal defect, Ventricular septal defect |
OMIM:617360 |
| Subaortic Stenosis--Short Stature Syndrome |
|
Short phalanx of finger, Broad toe, Short nose, Membranous subvalvular aortic stenosis, Short foo... |
OMIM:271960 |
