| Asbestos Intoxication |
|
Reduced forced vital capacity, Nonproductive cough, Diffuse reticular or finely nodular infiltrat... |
ORPHA:2302 |
| Atrioventricular Septal Defect 5 |
|
Muscular ventricular septal defect, Atrioventricular canal defect, Hypoplastic left heart |
OMIM:614474 |
| Bronchopulmonary Dysplasia |
|
Respiratory distress, Central apnea, Respiratory failure requiring assisted ventilation, Dyspnea,... |
ORPHA:70589 |
| Cardiomyopathy, Dilated, 2H |
|
Secundum atrial septal defect, Muscular ventricular septal defect, Neonatal death |
OMIM:620203 |
| Geroderma Osteodysplasticum |
|
Osteopenia, Hyperextensibility of the finger joints, Beaking of vertebral bodies, Recurrent fract... |
OMIM:231070 |
| Stuve-Wiedemann Syndrome 2 |
|
Respiratory distress, Bowing of the long bones, Death in adolescence, Short long bone, Stillbirth... |
OMIM:619751 |
| Pseudoachondroplasia |
|
Limited hip extension, Distal joint laxity, Generalized joint laxity, Delayed epiphyseal ossifica... |
ORPHA:750 |
| Surfactant Metabolism Dysfunction, Pulmonary, 3 |
|
Respiratory distress, Apnea, Crazy paving pattern, Nodular pattern on pulmonary HRCT, Tachypnea, ... |
OMIM:610921 |
| Acute Interstitial Pneumonia |
|
Cyanosis, Peribronchovascular interstitial thickening, Crackles, Nodular pattern on pulmonary HRC... |
ORPHA:79126 |
| Odontochondrodysplasia 1 |
|
Respiratory distress, Micromelia, Metaphyseal widening, Short phalanx of finger, Genu varum, Deat... |
OMIM:184260 |
| Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction |
|
Respiratory distress, Crackles, Tachypnea, Cough, Atrial septal defect, Oxygen desaturation on ex... |
OMIM:610978 |
| Ciliary Dyskinesia, Primary, 47, And Lissencephaly |
|
Respiratory distress, Recurrent respiratory infections, Abnormal mucociliary clearance, Atelectas... |
OMIM:619466 |
| Recurrent Respiratory Papillomatosis |
|
Respiratory distress, Nonproductive cough, Wheezing, Tachypnea, Dyspnea, Upper airway obstruction... |
ORPHA:60032 |
| Perching Syndrome |
|
Respiratory distress, Cyanosis, Scoliosis, Camptodactyly, Joint contracture |
OMIM:617055 |
| Transaldolase Deficiency |
|
Atrial septal defect, Premature skin wrinkling, Biventricular hypertrophy, Telangiectasia |
ORPHA:101028 |
| Waardenburg Syndrome Type 3 |
|
Camptodactyly of finger, Tracheomalacia, Joint stiffness, Atelectasis, Abnormal finger morphology... |
ORPHA:896 |
| Ciliary Dyskinesia, Primary, 21 |
|
Neonatal respiratory distress, Atelectasis, Recurrent pneumonia, Decreased nasal nitric oxide, Br... |
OMIM:615294 |
| Mucus Inspissation Of Respiratory Tract |
|
Recurrent respiratory infections, Atelectasis, Chronic pulmonary obstruction, Bronchiectasis, Chr... |
OMIM:253240 |
| Respiratory Distress Syndrome In Premature Infants |
|
Respiratory distress, Neonatal respiratory distress, Dyspnea, Atelectasis, Tachypnea, Pulmonary e... |
OMIM:267450 |
| Isolated Congenital Hypoglossia/Aglossia |
|
Respiratory distress, Dyspnea, Upper airway obstruction, Aplasia/Hypoplasia of fingers, Aspiratio... |
ORPHA:141152 |
| Dermatoleukodystrophy |
|
Premature skin wrinkling, Large hands, Progeroid facial appearance |
OMIM:221790 |
| Idiopathic Chronic Eosinophilic Pneumonia |
|
Abnormal pulmonary thoracic imaging finding, Crackles, Dyspnea, Nonproductive cough, Wheezing, As... |
ORPHA:2902 |
| Stuve-Wiedemann Syndrome 1 |
|
Apnea, Single transverse palmar crease, Short neck, Knee flexion contracture, Femoral bowing, Tib... |
OMIM:601559 |
| Bronchogenic Cyst |
|
Back pain, Abnormal pulmonary thoracic imaging finding, Pulmonary cyst, Pneumonia, Abnormal peric... |
ORPHA:2357 |
| Ventricular Septal Defect 1 |
|
Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Atrioventricular canal defect... |
OMIM:614429 |
| Epiphyseal Dysplasia, Multiple, 1 |
|
Epiphyseal dysplasia, Short metacarpal, Ovoid vertebral bodies, Joint stiffness, Avascular necros... |
OMIM:132400 |
| Cardiomyopathy, Dilated, 2D |
|
Perinuclear cardiomyocyte vacuolization, Muscular ventricular septal defect, Dilated cardiomyopat... |
OMIM:619371 |
| Aquagenic Palmoplantar Keratoderma |
|
Abnormal phalangeal joint morphology of the hand, Recurrent sinopulmonary infections, Excessive s... |
ORPHA:498359 |
| Meconium Aspiration Syndrome |
|
Respiratory distress, Abnormal pulmonary thoracic imaging finding, Neonatal asphyxia, Wheezing, P... |
ORPHA:70588 |
| Ciliary Dyskinesia, Primary, 29 |
|
Recurrent respiratory infections, Atelectasis, Decreased nasal nitric oxide, Bronchiectasis, Cili... |
OMIM:615872 |
| Osebold-Remondini Syndrome |
|
Decreased finger mobility, Broad toe, Dysplastic distal radial epiphyses, Hypoplasia of the ulna,... |
OMIM:112910 |
| Eiken Syndrome |
|
Short palm, Abnormal trabecular bone morphology, Epiphyseal dysplasia, Abnormal acetabulum morpho... |
ORPHA:79106 |
| Ciliary Dyskinesia, Primary, 33 |
|
Atelectasis, Recurrent pneumonia, Bronchiectasis, Chronic rhinitis, Cough, Recurrent lower respir... |
OMIM:616726 |
| Craniofaciofrontodigital Syndrome |
|
Osteopenia, Joint laxity, Respiratory distress, Prominent superficial veins, Bicuspid aortic valv... |
ORPHA:363705 |
| B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Osteopenia, Respiratory distress, Multiple joint contractures, Metaphyseal widening, Anterior atl... |
ORPHA:536467 |
| Platyspondylic Lethal Skeletal Dysplasia, Torrance Type |
|
Respiratory distress, Micromelia, Short neck, Severe limb shortening, Radial bowing, Rhizomelia, ... |
OMIM:151210 |
| Cutis Laxa, Autosomal Dominant 2 |
|
Premature skin wrinkling, Scoliosis, Cutis laxa |
OMIM:614434 |
| Acrogeria |
|
Telangiectasia of the skin, Prematurely aged appearance, Small hand, Skin ulcer, Short foot, Join... |
ORPHA:2500 |
| Surfactant Metabolism Dysfunction, Pulmonary, 2 |
|
Respiratory distress, Reduced forced vital capacity, Tachypnea, Cough, Decreased DLCO, Clubbing, ... |
OMIM:610913 |
| Pseudoachondroplasia |
|
Limited hip extension, Delayed epiphyseal ossification, Osteoarthritis, Metaphyseal widening, Fra... |
OMIM:177170 |
| Cutis Laxa, Autosomal Dominant 3 |
|
Osteopenia, Joint laxity, Dermal translucency, Os odontoideum, Hip dislocation, Cutis laxa, Talip... |
OMIM:616603 |
| Immunodeficiency 95 |
|
Respiratory distress, Recurrent respiratory infections, Ground-glass opacification, Respiratory f... |
OMIM:619773 |
| Primary Ciliary Dyskinesia |
|
Atrial situs ambiguous, Neonatal respiratory distress, Abnormal atrial arrangement, Respiratory t... |
ORPHA:244 |
| Hypomyelination Neuropathy-Arthrogryposis Syndrome |
|
Respiratory distress, Limitation of joint mobility |
ORPHA:2680 |
| Familial Nasal Acilia |
|
Respiratory distress, Dyspnea, Atelectasis, Recurrent upper respiratory tract infections, Bronchi... |
ORPHA:922 |
| Odontochondrodysplasia |
|
Respiratory distress, Death in infancy, Bowing of the long bones, Micromelia, Coxa valga, Cone-sh... |
ORPHA:166272 |
| Infant Acute Respiratory Distress Syndrome |
|
Cyanosis, Pneumonia, Respiratory tract infection, Atelectasis, Nasal flaring, Tachypnea, Hypoxemi... |
ORPHA:70587 |
| White Forelock With Malformations |
|
Atrial septal defect, Prominent veins on trunk |
OMIM:277740 |
| Tricuspid Atresia |
|
Cyanosis, Ventricular septal defect, Hypoplasia of right ventricle, Transposition of the great ar... |
ORPHA:1209 |
| Thanatophoric Dysplasia Type 1 |
|
Bowing of the long bones, Short femur, Redundant skin, Micromelia, Joint stiffness, Hypoplastic i... |
ORPHA:1860 |
| Cog7-Cdg |
|
Short neck, Long fingers, Jaundice, Abnormal finger morphology, Abnormal heart morphology, Excess... |
ORPHA:79333 |
| Neurogenic Arthrogryposis Multiplex Congenita |
|
Respiratory distress, Hip contracture, Rocker bottom foot, Ankle flexion contracture, Respiratory... |
ORPHA:1143 |
| Solitary Bone Cyst |
|
Back pain, Abnormal tibia morphology, Abnormal pubic bone morphology, Unicameral bone cyst, Abnor... |
ORPHA:83468 |
| Elastoderma |
|
Premature skin wrinkling, Cutis laxa |
ORPHA:228240 |
| Isolated Right Ventricular Hypoplasia |
|
Cyanosis, Cardiomegaly, Muscular ventricular septal defect, Atrial septal defect, Patent foramen ... |
ORPHA:439 |
| C1Q Deficiency 2 |
|
Atelectasis, Bronchiectasis, Facial erythema, Arthritis, Vasculitis in the skin, Recurrent lower ... |
OMIM:620321 |
| Plectin-Related Limb-Girdle Muscular Dystrophy R17 |
|
Atelectasis, Achilles tendon contracture, Proximal upper limb muscle hypertrophy, Decreased cervi... |
ORPHA:254361 |
| Tracheobronchopathia Osteochondroplastica |
|
Recurrent respiratory infections, Pneumonia, Bronchitis, Productive cough, Atelectasis, Wheezing,... |
ORPHA:3348 |
| Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness |
|
Atelectasis, Chronic sinusitis, Recurrent bronchitis |
OMIM:300455 |
| Adams-Oliver Syndrome 4 |
|
Atrial septal defect, Umbilical hernia, Ventricular septal defect, Cutis marmorata |
OMIM:615297 |
| Interstitial Pneumonitis, Desquamative, Familial |
|
Respiratory distress, Cyanosis, Type II pneumocyte hypertrophy, Desquamative interstitial pneumon... |
OMIM:263000 |
| Lipodystrophy-Intellectual Disability-Deafness Syndrome |
|
Osteopenia, Dense metaphyseal bands, Progeroid facial appearance, Slender long bones with narrow ... |
ORPHA:50811 |
| Arthrogryposis Multiplex Congenita 5 |
|
Death in infancy, Neonatal respiratory distress, Rocker bottom foot, Kyphoscoliosis, Short neck, ... |
OMIM:618947 |
| Acromesomelic Dysplasia 2A |
|
Death in infancy, Hypoplasia of the ulna, Short femur, Short humerus, Aplasia/Hypoplasia of the p... |
OMIM:200700 |
| Surfactant Metabolism Dysfunction, Pulmonary, 1 |
|
Death in infancy, Neonatal respiratory distress, Cyanosis, Apnea, Ground-glass opacification, Dys... |
OMIM:265120 |
| Interstitial Lung Disease 1 |
|
Nonspecific interstitial pneumonia, Crackles, Ground-glass opacification, Intralobular septal thi... |
OMIM:619611 |
| Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome |
|
Ground-glass opacification, Respiratory tract infection, Nonproductive cough, Dyspnea, Chronic pu... |
ORPHA:79127 |
| Muscular Hypertonia, Lethal |
|
Respiratory distress, Death in infancy, Pneumonia |
OMIM:254120 |
| Microphthalmia, Syndromic 8 |
|
Premature skin wrinkling, Split foot |
OMIM:601349 |
| Autosomal Dominant Hyper-Ige Syndrome |
|
Osteopenia, Recurrent respiratory infections, Osteomyelitis, Recurrent fractures, Craniosynostosi... |
ORPHA:2314 |
| Achondroplasia |
|
Respiratory distress, Limited hip extension, Bowing of the legs, Generalized joint laxity, Femora... |
OMIM:100800 |
| Smith-Mccort Dysplasia 2 |
|
Short metacarpal, Enlarged interphalangeal joints, Broad femoral neck, Short neck, Broad metatars... |
OMIM:615222 |
| Bardet-Biedl Syndrome 16 |
|
Respiratory distress, Recurrent respiratory infections, Polydactyly, Bronchiolitis |
OMIM:615993 |
| Myotubular Myopathy With Abnormal Genital Development |
|
Respiratory distress, Death in infancy, Atelectasis, Neonatal death, Joint hypermobility |
OMIM:300219 |
| Congenital Myopathy 10A, Severe Variant |
|
Respiratory distress, Camptodactyly of finger, Respiratory insufficiency, Restrictive ventilatory... |
OMIM:614399 |
| Lethal Recessive Chondrodysplasia |
|
Respiratory distress, Micromelia, Generalized osteosclerosis, Short long bone, Flared elbow metap... |
ORPHA:1423 |
| Nicolaides-Baraitser Syndrome |
|
Short palm, Sandal gap, Abnormal finger morphology, Clubbing of toes, Excessive wrinkled skin, Ab... |
ORPHA:3051 |
| Houge-Janssens Syndrome 3 |
|
Atrial septal defect, Umbilical hernia, Muscular ventricular septal defect |
OMIM:618354 |
| 8p23.1 deletion syndrome |
|
Atrial septal defect, Atrioventricular canal defect, Abnormal heart morphology |
DECIPHER:39 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10 |
|
Neural tube defect |
OMIM:615041 |
| Alg8-Cdg |
|
Abnormality of subcutaneous fat tissue, Cutis laxa, Talipes equinovarus, Camptodactyly, Intrauter... |
ORPHA:79325 |
| Congenital Heart Defects, Multiple Types, 5 |
|
Bicuspid aortic valve, Ventricular septal defect, Dilated cardiomyopathy, Aortic valve stenosis, ... |
OMIM:617912 |
| Acromesomelic Dysplasia 1 |
|
Short metatarsal, Short phalanx of finger, Long hallux, Broad metacarpals, Joint laxity, Short me... |
OMIM:602875 |
| Cardiac Valvular Dysplasia 1 |
|
Cyanosis, Ventricular septal defect, Left atrial enlargement, Tricuspid stenosis, Valvular pulmon... |
OMIM:212093 |
| Kniest Dysplasia |
|
Respiratory distress, Hip contracture, Rhizomelia, Dumbbell-shaped long bone, Short neck, Delayed... |
OMIM:156550 |
| Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea |
|
Crackles, Ground-glass opacification, Dyspnea, Asthma, Wheezing, Atelectasis, Bronchiectasis, Rec... |
OMIM:620233 |
| Geroderma Osteodysplastica |
|
Beaking of vertebral bodies, Prematurely aged appearance, Recurrent fractures, Redundant skin, Os... |
ORPHA:2078 |
| Distal 7Q11.23 Microdeletion Syndrome |
|
Atrial septal defect |
ORPHA:254351 |
| Chronic Pneumonitis Of Infancy |
|
Respiratory distress, Cyanosis, Intercostal retractions, Ground-glass opacification, Reduced forc... |
ORPHA:91359 |
| Arthrogryposis, Distal, Type 1A |
|
Hip contracture, Decreased hip abduction, Congenital hip dislocation, Single transverse palmar cr... |
OMIM:108120 |
| Birk-Aharoni Syndrome |
|
Muscular ventricular septal defect |
OMIM:620071 |
| Spinal Muscular Atrophy, Type I |
|
Atrial septal defect, Ventricular septal defect |
OMIM:253300 |
| Heart Defects-Limb Shortening Syndrome |
|
Abnormal mitral valve morphology, Atrial septal defect, Ventricular septal defect, Abnormal tricu... |
ORPHA:1354 |
| Emphysema, Congenital Lobar |
|
Respiratory distress |
OMIM:130710 |
| Lethal Osteosclerotic Bone Dysplasia |
|
Respiratory distress, Short neck, Dyspnea, Respiratory failure, Intrauterine growth retardation |
ORPHA:1832 |
| Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome |
|
Osteopenia, Short fourth metatarsal, Short neck, Tibial metaphyseal irregularity, Coxa vara, Flat... |
ORPHA:457395 |
| Ehlers-Danlos Syndrome, Classic-Like, 2 |
|
Osteopenia, Hallux valgus, Prominent superficial veins, Thoracic scoliosis, Prematurely aged appe... |
OMIM:618000 |
| Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 2 |
|
Muscular ventricular septal defect |
OMIM:620062 |
| Imperforate Oropharynx-Costovertebral Anomalies Syndrome |
|
Respiratory distress, Recurrent respiratory infections, Long palm, Arachnodactyly, Dyspnea, Hemiv... |
ORPHA:2759 |
| Short-Rib Thoracic Dysplasia 12 |
|
Hypoplastic scapulae, Ventricular septal defect, Bowing of the legs, Short neck, Atelectasis, Sho... |
OMIM:269860 |
| Dyggve-Melchior-Clausen Disease |
|
Short neck, Metaphyseal widening, Flat glenoid fossa, Short metatarsal, Femoral bowing, Tibial bo... |
OMIM:223800 |
| Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy |
|
Atrial septal defect, Ventricular septal defect |
OMIM:614249 |
| Diaphanospondylodysostosis |
|
Respiratory distress, Short neck, Narrow pelvis bone, Absent or minimally ossified vertebral bodi... |
ORPHA:66637 |
| Cardiomyopathy, Familial Hypertrophic, 4 |
|
Ventricular hypertrophy, Cardiomegaly, Pericardial effusion, Muscular ventricular septal defect, ... |
OMIM:115197 |
| Spondyloepiphyseal Dysplasia Congenita |
|
Respiratory distress, Lumbar hyperlordosis, Ovoid vertebral bodies, Limited elbow movement, Short... |
OMIM:183900 |
| Cryptogenic Organizing Pneumonia |
|
Respiratory distress, Bronchial breath sound, Cyanosis, Crackles, Ground-glass opacification, Non... |
ORPHA:1302 |
| Cutis Laxa, Autosomal Recessive, Type Ic |
|
Osteopenia, Joint laxity, Death in infancy, Sandal gap, Single transverse palmar crease, Redundan... |
OMIM:613177 |
| Arthrogryposis, Distal, Type 11 |
|
Rocker bottom foot, Metatarsus adductus, Calcaneovalgus deformity, Talipes equinovarus, Camptodac... |
OMIM:620019 |
| Thiemann Disease |
|
Broad phalanx, Short phalanx of finger |
OMIM:165700 |
| Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly |
|
Respiratory distress, Short metacarpal, Brachydactyly, Sandal gap, Postaxial polydactyly, Short m... |
OMIM:617102 |
| Megabladder, Congenital |
|
Atrial septal defect, Ventricular septal defect, Bicuspid aortic valve, Left ventricular noncompa... |
OMIM:618719 |
| Congenital Disorder Of Glycosylation, Type Iy |
|
Respiratory distress, Clinodactyly, Scoliosis |
OMIM:300934 |
| Diamond-Blackfan Anemia 16 |
|
Atrial septal defect, Pulmonic stenosis |
OMIM:617408 |
| Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3 |
|
Osteopenia, Joint laxity, Short metacarpal, Prominent superficial veins, Camptodactyly of finger,... |
OMIM:612350 |
| Interstitial Lung Disease 2 |
|
Dyspnea, Clubbing of fingers, Alveolar cell carcinoma, Elevated bronchoalveolar lavage fluid neut... |
OMIM:178500 |
| Moebius Syndrome |
|
Respiratory distress, Syndactyly, Brachydactyly, Short neck, Clinodactyly, Split hand, Abnormal p... |
OMIM:157900 |
| Myasthenic Syndrome, Congenital, 6, Presynaptic |
|
Respiratory distress, Sudden episodic apnea, Respiratory insufficiency due to muscle weakness, Ap... |
OMIM:254210 |
| Farber Disease |
|
Respiratory distress, Abnormality of the hand, Nodular pattern on pulmonary HRCT, Atelectasis, Sh... |
ORPHA:333 |
| Developmental And Epileptic Encephalopathy 30 |
|
Respiratory distress, Death in infancy |
OMIM:616341 |
| Short Syndrome |
|
Joint laxity, Enlarged epiphyses, Prominent superficial veins, Slender long bone, Premature skin ... |
OMIM:269880 |
| Pleural Mesothelioma |
|
Respiratory distress, Abnormal pleura morphology, Dyspnea, Abnormal lung morphology, Abnormal res... |
ORPHA:50251 |
| Atrial Septal Defect 2 |
|
Ventricular septal defect, Dextrocardia, Pulmonic stenosis, Atrial septal defect, Atrioventricula... |
OMIM:607941 |
| Enthesitis-Related Juvenile Idiopathic Arthritis |
|
Back pain, Abnormal metatarsal morphology, Knee osteoarthritis, Enthesitis, Abnormal shoulder mor... |
ORPHA:85438 |
| Autosomal Dominant Cutis Laxa |
|
Osteopenia, Joint laxity, Dermal translucency, Redundant neck skin, Prematurely aged appearance, ... |
ORPHA:90348 |
| Atrial Septal Defect 4 |
|
Atrial septal defect, Patent foramen ovale |
OMIM:611363 |
| Sandestig-Stefanova Syndrome |
|
Muscular ventricular septal defect, Perimembranous ventricular septal defect |
OMIM:618804 |
| Gaucher Disease Type 2 |
|
Respiratory distress, Recurrent respiratory infections, Flexion contracture, Cough, Abnormal patt... |
ORPHA:77260 |
| Pulmonary Non-Tuberculous Mycobacterial Infection |
|
Respiratory distress, Crackles, Pericardial effusion, Dyspnea, Chronic pulmonary obstruction, Pne... |
ORPHA:411703 |
| Osteogenesis Imperfecta, Type X |
|
Osteopenia, Joint laxity, Bowing of the long bones, Short femur, Rhizomelia, Respiratory distress... |
OMIM:613848 |
| Otopalatodigital Syndrome, Type I |
|
Abnormality of the fifth metatarsal bone, Femoral bowing, Broad distal phalanx of the thumb, Shor... |
OMIM:311300 |
| Idiopathic Bronchiectasis |
|
Crackles, Productive cough, Respiratory tract infection, Dyspnea, Wheezing, Clubbing, Bronchiecta... |
ORPHA:60033 |
| Bronchiolitis Obliterans With Obstructive Pulmonary Disease |
|
Pneumonia, Reduced forced expiratory volume in one second, Reduced forced vital capacity, Dyspnea... |
ORPHA:1303 |
| Acromicric Dysplasia |
|
Short metacarpal, Ovoid vertebral bodies, Cone-shaped epiphysis, Short foot, Short long bone, Sho... |
OMIM:102370 |
| Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones |
|
Osteopenia, Progeroid facial appearance, Genu valgum, Slender long bones with narrow diaphyses, D... |
OMIM:608154 |
| Pomt1-Related Limb-Girdle Muscular Dystrophy R11 |
|
Respiratory distress, Lumbar hyperlordosis, Spinal rigidity, Dyspnea, Cardiomyopathy, Scoliosis, ... |
ORPHA:86812 |
| Combined Oxidative Phosphorylation Deficiency 36 |
|
Premature skin wrinkling |
OMIM:617950 |
| Microcephalic Primordial Dwarfism, Montreal Type |
|
Prematurely aged appearance, Kyphosis, Reduced bone mineral density, Premature graying of hair, V... |
ORPHA:2617 |
| Mesoaxial Hexadactyly And Cardiac Malformation |
|
Atrial septal defect, Ventricular septal defect, Pulmonic stenosis |
OMIM:249670 |
| Cog5-Cdg |
|
Camptodactyly of finger, Short neck, Genu valgum, Finger clinodactyly, Intrauterine growth retard... |
ORPHA:263487 |
| Laryngotracheal Angioma |
|
Respiratory distress, Cyanosis, Intercostal retractions, Apnea, Wheezing, Stridor, Cough |
ORPHA:137935 |
| Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy |
|
Respiratory distress, Kyphoscoliosis |
OMIM:619099 |
| Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome |
|
Atrial septal defect, Muscular ventricular septal defect, Perimembranous ventricular septal defec... |
ORPHA:363444 |
| Nicolaides-Baraitser Syndrome |
|
Long toe, Hallux valgus, Short metacarpal, Recurrent respiratory infections, Sandal gap, Single t... |
OMIM:601358 |
| Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties |
|
Atrial septal defect, Pericardial effusion, Multiple muscular ventricular septal defects |
OMIM:620070 |
| Dermatosparaxis Ehlers-Danlos Syndrome |
|
Osteopenia, Abnormality of subcutaneous fat tissue, Osteomalacia, Joint stiffness, Coxa valga, Av... |
ORPHA:1901 |
| Smith-Mccort Dysplasia 1 |
|
Multicentric femoral head ossification, Short metacarpal, Iliac crest serration, Hypoplastic scap... |
OMIM:607326 |
| Fontaine Progeroid Syndrome |
|
Bicuspid aortic valve, Redundant skin, Atrial septal defect, Neonatal death, Recurrent aspiration... |
OMIM:612289 |
| Cutis Laxa, Autosomal Recessive, Type Iib |
|
Osteopenia, Bowing of the long bones, Congenital hip dislocation, Prominent superficial veins, Re... |
OMIM:612940 |
| Porencephaly, Cerebellar Hypoplasia, And Internal Malformations |
|
Situs inversus totalis, Atrial septal defect, Tetralogy of Fallot |
OMIM:601322 |
| Cardiomyopathy, Dilated, 1Gg |
|
Respiratory distress, Dilated cardiomyopathy, Left ventricular noncompaction |
OMIM:613642 |
| Fg Syndrome Type 1 |
|
Limited elbow extension and supination, Finger syndactyly, Broad toe, Progressive flexion contrac... |
ORPHA:93932 |
| Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures |
|
Respiratory distress, Joint contracture, Kyphoscoliosis |
OMIM:617977 |
| Brachydactyly-Syndactyly Syndrome |
|
Syndactyly, Finger syndactyly, Camptodactyly, Short phalanx of finger, Short digit, Oligodactyly,... |
OMIM:610713 |
| Myoclonic-Astatic Epilepsy |
|
Syndactyly, Premature skin wrinkling |
ORPHA:1942 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6 |
|
Respiratory distress, Paradoxical respiration, Plantar flexion contracture, Arthrogryposis-like h... |
OMIM:620011 |
| Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome |
|
Respiratory distress |
ORPHA:171703 |
| Hereditary Pulmonary Alveolar Proteinosis |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Crazy paving pattern, C... |
ORPHA:264675 |
| Choanal Atresia |
|
Respiratory distress, Recurrent respiratory infections, Cyanosis, Craniosynostosis, Upper airway ... |
ORPHA:137914 |
| Diaphanospondylodysostosis |
|
Delayed vertebral ossification, Respiratory distress, Absent in utero ossification of vertebral b... |
OMIM:608022 |
| X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Short palm, Death in infancy, Rhizomelia, Metaphyseal chondrodysplasia, Abnormality of the calcan... |
ORPHA:163966 |
| Indomethacin Embryofetopathy |
|
Atrial septal defect, Cardiomyopathy, Ventricular septal defect |
ORPHA:1909 |
| Catel-Manzke Syndrome |
|
Atrial septal defect, Ventricular septal defect |
ORPHA:1388 |
| Sotos Syndrome |
|
Atrial septal defect, Muscular ventricular septal defect, Ventricular septal defect, Prolonged ne... |
OMIM:117550 |
| Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation |
|
Atrial septal defect, Ventricular septal defect |
OMIM:608227 |
| Severe X-Linked Mitochondrial Encephalomyopathy |
|
Respiratory distress, Respiratory insufficiency |
ORPHA:238329 |
| Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome |
|
Respiratory distress, Hypertrophic cardiomyopathy, Cyanosis |
ORPHA:91130 |
| Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans |
|
Respiratory distress, Central apnea, Lumbar hyperlordosis, Rhizomelia, Redundant skin, Kyphosis, ... |
OMIM:616482 |
| Staphylococcal Necrotizing Pneumonia |
|
Respiratory distress, Pneumonia, Nonproductive cough, Dyspnea, Tachypnea, Pneumothorax, Pulmonary... |
ORPHA:36238 |
| Congenital Tracheomalacia |
|
Apnea, Cardiomegaly, Tracheobronchomalacia, Cough, Atrial septal defect, Emphysema, Single ventri... |
ORPHA:95430 |
| Congenital Pulmonary Lymphangiectasia |
|
Respiratory distress, Cyanosis, Chronic pulmonary obstruction, Chylopericardium, Pulmonic stenosi... |
ORPHA:2414 |
| Myasthenic Syndrome, Congenital, 4A, Slow-Channel |
|
Respiratory distress, Respiratory insufficiency due to muscle weakness, Sudden episodic apnea, Ap... |
OMIM:605809 |
| Opitz-Kaveggia Syndrome |
|
Syndactyly, Sacral dimple, Multiple joint contractures, Broad hallux, Single transverse palmar cr... |
OMIM:305450 |
| Heyn-Sproul-Jackson Syndrome |
|
Short metacarpal, Intrauterine growth retardation, Broad phalanx, Short phalanx of finger, Broad ... |
OMIM:618724 |
| Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 1 |
|
Osteopenia, Crackles, Dyspnea, Premature graying of hair, Clubbing of fingers, Reticular pattern ... |
OMIM:614742 |
| Saul-Wilson Syndrome |
|
Enlarged epiphyses, Short metacarpal, Prominent superficial veins, Pseudoepiphyses of the metacar... |
OMIM:618150 |
| Cataract-Intellectual Disability-Hypogonadism Syndrome |
|
Prematurely aged appearance, Abnormal distal phalanx morphology of finger, Abnormality of the han... |
ORPHA:1387 |
| Congenital Disorder Of Glycosylation, Type Iu |
|
Respiratory distress, Death in infancy, Neonatal respiratory distress, Congenital contracture, Sc... |
OMIM:615042 |
| Hypertension And Brachydactyly Syndrome |
|
Cone-shaped epiphysis, Short metacarpal, Short phalanx of finger, Type E brachydactyly |
OMIM:112410 |
| Noonan Syndrome 11 |
|
Atrial septal defect, Hypertrophic cardiomyopathy, Pulmonic stenosis, Palmoplantar cutis laxa |
OMIM:618499 |
| Split-Hand/Foot Malformation 2 |
|
Finger syndactyly, Short metacarpal, Split hand, Split foot, Short phalanx of finger |
OMIM:313350 |
| Mitochondrial Dna Depletion Syndrome, Myopathic Form |
|
Respiratory distress, Respiratory insufficiency due to muscle weakness, Recurrent pneumonia, Resp... |
ORPHA:254875 |
| Arthrogryposis, Distal, Type 2B1 |
|
Ulnar deviation of the wrist, Camptodactyly of finger, Rocker bottom foot, Metatarsus adductus, C... |
OMIM:601680 |
| Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Respiratory distress, Syndactyly, Ventricular septal defect, Micromelia, Postaxial polydactyly, H... |
OMIM:617895 |
| Coenzyme Q10 Deficiency, Primary, 8 |
|
Respiratory distress, Flexion contracture, Pulmonary hypoplasia, Left ventricular hypertrophy, In... |
OMIM:616733 |
| Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech |
|
Short neck, Delayed epiphyseal ossification, Flexion contracture, Rhizo-meso-acromelic limb short... |
OMIM:611717 |
| Severe Acute Respiratory Syndrome |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Dyspnea, Hypoxemia, Acu... |
ORPHA:140896 |
| Ciliary Dyskinesia, Primary, 20 |
|
Atrial situs inversus, Recurrent respiratory infections, Ventricular septal defect, Dextrocardia,... |
OMIM:615067 |
| Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive |
|
Epiphyseal dysplasia, Lumbar hyperlordosis, Large tarsal bones, Premature osteoarthritis, Flexion... |
OMIM:215150 |
| Short Chain Acyl-Coa Dehydrogenase Deficiency |
|
Respiratory distress, Cardiomyopathy, Intrauterine growth retardation |
ORPHA:26792 |
| Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked |
|
Respiratory distress, Dilated cardiomyopathy, Respiratory insufficiency due to muscle weakness |
OMIM:300580 |
| Chitayat Syndrome |
|
Hallux valgus, Recurrent respiratory infections, Respiratory distress, Abnormal pulmonary interst... |
OMIM:617180 |
| Orofaciodigital Syndrome Type 10 |
|
Radial deviation of the hand, Tarsal synostosis, Duplication of thumb phalanx, Short neck, Short ... |
ORPHA:2756 |
| Ventricular Septal Defect 3 |
|
Atrial septal defect, Ventricular septal defect |
OMIM:614432 |
| Ruvalcaba Syndrome |
|
Short metacarpal, Micromelia, Kyphosis, Limited elbow extension, Short metatarsal, Small hand, Sh... |
OMIM:180870 |
| Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Respiratory distress, Orthopnea, Cardiomegaly, Respiratory insufficiency due to muscle weakness, ... |
ORPHA:365 |
| Infantile-Onset X-Linked Spinal Muscular Atrophy |
|
Respiratory distress, Hip contracture, Interphalangeal joint contracture of finger, Ankle flexion... |
ORPHA:1145 |
| Pulmonary Alveolar Proteinosis, Acquired |
|
Recurrent respiratory infections, Lung abscess, Cyanosis, Pneumonia, Dyspnea, Clubbing, Intraalve... |
OMIM:610910 |
| De Barsy Syndrome |
|
Osteopenia, Recurrent sinopulmonary infections, Dermal translucency, Congenital hip dislocation, ... |
ORPHA:2962 |
| Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects |
|
Muscular ventricular septal defect, Spina bifida occulta |
OMIM:619227 |
| Ciliary Dyskinesia, Primary, 1 |
|
Pneumonia, Situs inversus totalis, Atelectasis, Bronchiectasis, Immotile cilia, Chronic rhinitis,... |
OMIM:244400 |
| Greenberg Dysplasia |
|
Micromelia, Multiple prenatal fractures, Patchy variation in bone mineral density, Abnormal lung ... |
OMIM:215140 |
| Trichorhinophalangeal Syndrome, Type Iii |
|
Osteopenia, Short metacarpal, Avascular necrosis of the capital femoral epiphysis, Short metatars... |
OMIM:190351 |
| Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2 |
|
Respiratory distress, Hypertrophic cardiomyopathy, Respiratory insufficiency due to muscle weakne... |
OMIM:613561 |
| B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Osteopenia, Long toe, Arachnodactyly, Progeroid facial appearance, Kyphoscoliosis, Palmoplantar c... |
ORPHA:75496 |
| Otospondylomegaepiphyseal Dysplasia |
|
Short neck, Osteoarthritis, Abnormal iliac wing morphology, Tibial bowing, Abnormal long bone mor... |
ORPHA:1427 |
| Chromosome 8Q22.1 Duplication Syndrome |
|
Hallux valgus, Short metacarpal, Enlarged interphalangeal joints, Interphalangeal joint contractu... |
OMIM:151200 |
| Cardiac-Valvular Ehlers-Danlos Syndrome |
|
Hallux valgus, Abnormal heart valve morphology, Sandal gap, Recurrent shoulder dislocation, Poor ... |
ORPHA:230851 |
| Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
|
Hypoventilation, Hyperlordosis, Atelectasis, Flexion contracture, Respiratory insufficiency, Card... |
ORPHA:258 |
| Arterial Tortuosity Syndrome |
|
Respiratory distress, Redundant skin, Coxa vara, Clinodactyly of the 5th finger, Arachnodactyly, ... |
ORPHA:3342 |
| Combined Oxidative Phosphorylation Deficiency 30 |
|
Left ventricular hypertrophy, Death in infancy, Respiratory distress |
OMIM:616974 |
| Myopathy And Diabetes Mellitus |
|
Hyporeflexia of upper limbs, Achilles tendon contracture, Shoulder girdle muscle weakness, Respir... |
ORPHA:2596 |
| Lissencephaly Syndrome, Norman-Roberts Type |
|
Respiratory distress, Rocker bottom foot, Atrial septal defect, Intrauterine growth retardation, ... |
ORPHA:89844 |
| Campomelic Dysplasia |
|
Respiratory distress, Thoracic scoliosis, Apnea, Anterior tibial bowing, Cervical kyphosis, Delay... |
OMIM:114290 |
| Spondyloepimetaphyseal Dysplasia, X-Linked |
|
Anterior wedging of T12, Long fibula, Short palm, Short phalanx of finger, Broad metacarpals, Gen... |
OMIM:300106 |
| Arthrogryposis, Distal, Type 3 |
|
Decreased hip abduction, Congenital hip dislocation, Camptodactyly of finger, Single transverse p... |
OMIM:114300 |
| Acute Lung Injury |
|
Respiratory distress, Pneumonia, Diffuse alveolar hemorrhage, Dyspnea, Tachypnea, Abnormal pulmon... |
ORPHA:178320 |
| Keppen-Lubinsky Syndrome |
|
Progeroid facial appearance, Dyspnea, Flexion contracture, Recurrent pneumonia, Upper airway obst... |
ORPHA:435628 |
| Congenital Lobar Emphysema |
|
Respiratory distress, Emphysema |
ORPHA:1928 |
| Vertical Talus, Congenital |
|
Arthritis, Calcaneovalgus deformity, Rocker bottom foot, Equinus calcaneus |
OMIM:192950 |
| Atelosteogenesis Type Ii |
|
Cervical kyphosis, Micromelia, Short neck, Short phalanx of finger, Broad metacarpals, Hypoplasti... |
ORPHA:56304 |
| Stüve-Wiedemann Syndrome |
|
Osteopenia, Respiratory distress, Apnea, Micromelia, Metaphyseal widening, Flexion contracture, K... |
ORPHA:3206 |
| Peripheral Dysostosis |
|
Hip osteoarthritis, Short phalanx of finger, Cone-shaped epiphyses of the phalanges of the hand |
OMIM:170700 |
| Rnf13-Related Severe Early-Onset Epileptic Encephalopathy |
|
Respiratory distress, Tapered finger, Flexion contracture, Hyperextensibility at wrists, Hip dysp... |
ORPHA:544503 |
| Ogden Syndrome |
|
Congenital hip dislocation, Bicuspid aortic valve, Apnea, Redundant skin, Cardiomegaly, Secundum ... |
OMIM:300855 |
| Congenital Disorder Of Glycosylation, Type Ie |
|
Respiratory distress, Ankle flexion contracture, Small hand, Upper limb undergrowth, Knee flexion... |
OMIM:608799 |
| Acromesomelic Dysplasia 4 |
|
Thoracic scoliosis, Short metatarsal, Short phalanx of finger, Genu varum, Short metacarpal, Radi... |
OMIM:619636 |
| Brachydactyly-Arterial Hypertension Syndrome |
|
Short metacarpal, Short phalanx of finger, Brachydactyly |
ORPHA:1276 |
| Wt Limb-Blood Syndrome |
|
Ulnar deviation of the 3rd finger, Absent thumb, Short thumb, Radioulnar synostosis, Joint contra... |
OMIM:194350 |
| Thanatophoric Dysplasia, Type Ii |
|
Small abnormally formed scapulae, Micromelia, Hypoplastic ilia, Flared metaphysis, Respiratory in... |
OMIM:187601 |
| Avian Influenza |
|
Respiratory distress, Miscarriage, Pneumonia, Productive cough, Ground-glass opacification, Nonpr... |
ORPHA:454836 |
| Progeroid Syndrome, Petty Type |
|
Reduced subcutaneous adipose tissue, Prematurely aged appearance, Redundant skin, Cutis laxa, Int... |
ORPHA:2963 |
| 16P13.11 Microduplication Syndrome |
|
Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Transposition of the great ... |
ORPHA:261243 |
| Spinal muscular atrophy, type I, with congenital bone fractures |
|
Osteopenia, Respiratory distress, Congenital hip dislocation, Arachnodactyly, Rocker bottom foot,... |
OMIM:271225 |
| Desbuquois Dysplasia 2 |
|
Single transverse palmar crease, Short neck, Metaphyseal widening, Short phalanx of finger, Genu ... |
OMIM:615777 |
| Radio-Renal Syndrome |
|
Respiratory distress, Micromelia, Short neck, Dyspnea, Hypoplasia of the radius, Abnormality of t... |
ORPHA:3015 |
| Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Atrial septal defect, Hypertrophic cardiomyopathy, Perimembranous ventricular septal defect, Card... |
OMIM:620135 |
| Brown-Vialetto-Van Laere Syndrome 1 |
|
Hand muscle atrophy, Respiratory distress, Respiratory failure requiring assisted ventilation, Re... |
OMIM:211530 |
| Congenital Contractures Of The Limbs And Face, Hypotonia, And Developmental Delay |
|
Hip contracture, Neonatal respiratory distress, Short neck, Metatarsus adductus, Calcaneovalgus d... |
OMIM:616266 |
| Xk Aprosencephaly Syndrome |
|
Atrial septal defect, Ventricular septal defect |
ORPHA:3469 |
| Hutchinson-Gilford Progeria Syndrome |
|
Prominent superficial blood vessels, Osteoarthritis, Reduced bone mineral density, Generalized ab... |
ORPHA:740 |
| Congenital Vertical Talus |
|
Achilles tendon contracture, Distal arthrogryposis, Rocker bottom foot, Equinus calcaneus |
ORPHA:178382 |
| Primary Non-Essential Cutis Verticis Gyrata |
|
Atrial septal defect, Ventricular septal defect |
ORPHA:357225 |
| Osteoglophonic Dysplasia |
|
Osteopenia, Respiratory distress, Short neck, Short metatarsal, Short palm, Short phalanx of fing... |
OMIM:166250 |
| Alg12-Cdg |
|
Biventricular hypertrophy, Muscular ventricular septal defect, Patent foramen ovale, Redundant skin |
ORPHA:79324 |
| Sarcoidosis, Susceptibility To, 2 |
|
Dyspnea, Pneumothorax, Clubbing, Bronchiectasis, Abnormal pulmonary interstitial morphology, Pulm... |
OMIM:612387 |
| Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs |
|
Respiratory distress, Delayed epiphyseal ossification, Abnormal epiphysis morphology, Prolonged n... |
ORPHA:226313 |
| Congenital Heart Defects, Multiple Types, 3 |
|
Atrial septal defect, Tetralogy of Fallot, Abnormal heart morphology |
OMIM:614954 |
| Lujo Hemorrhagic Fever |
|
Respiratory distress, Stiff neck, Crackles, Myocarditis, Nonproductive cough, Atelectasis, Rhinit... |
ORPHA:319213 |
| Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations |
|
Limited hip extension, Short neck, Flexion contracture, Tibial bowing, Irregular vertebral endpla... |
OMIM:143095 |
| Dilated Cardiomyopathy With Ataxia |
|
Muscular ventricular septal defect, Dilated cardiomyopathy |
ORPHA:66634 |
| Cutis Laxa, Autosomal Recessive, Type Iiib |
|
Osteopenia, Prominent superficial veins, Flexion contracture, Osteoporosis, Elbow flexion contrac... |
OMIM:614438 |
| Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence |
|
Respiratory distress, Syndactyly, Neonatal respiratory distress, Redundant neck skin, Proximal pl... |
OMIM:217980 |
| Neuropathy, Congenital, With Arthrogryposis Multiplex |
|
Arthrogryposis multiplex congenita, Calcaneovalgus deformity, Hyperlordosis |
OMIM:162370 |
| Three M Syndrome 3 |
|
Short neck, Hyperlordosis, Increased vertebral height, Slender long bone, Hip dysplasia, Clinodac... |
OMIM:614205 |
| Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Atrial septal defect, Ventricular septal defect, Pallor |
ORPHA:49827 |
| Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1 |
|
Osteopenia, Joint laxity, Congenital hip dislocation, Arachnodactyly, Protrusio acetabuli, Poor w... |
OMIM:225400 |
| Arthrogryposis, Perthes Disease, And Upward Gaze Palsy |
|
Atrial septal defect, Ventricular septal defect, Pulmonic stenosis |
OMIM:614262 |
| Pulmonary Capillary Hemangiomatosis |
|
Pulmonary edema, Cyanosis, Diffuse alveolar hemorrhage, Pericardial effusion, Dyspnea, Hemothorax... |
ORPHA:199241 |
| Neurooculocardiogenitourinary Syndrome |
|
Redundant neck skin, Ventricular septal defect, Cardiomegaly, Atrial septal defect, Patent forame... |
OMIM:618652 |
| Ciliary Dyskinesia, Primary, 2 |
|
Respiratory distress, Recurrent respiratory infections, Sinusitis, Dextrocardia, Situs inversus t... |
OMIM:606763 |
| Meier-Gorlin Syndrome 1 |
|
Respiratory distress, Flexion contracture, Flat glenoid fossa, Hemivertebrae, Cutaneous finger sy... |
OMIM:224690 |
| Idiopathic Pulmonary Hemosiderosis |
|
Crackles, Cardiomegaly, Nodular pattern on pulmonary HRCT, Dyspnea, Diffuse alveolar hemorrhage, ... |
ORPHA:99931 |
| Bardet-Biedl Syndrome 19 |
|
Atrial septal defect, Ventricular septal defect, Hypoplastic left heart, Partial atrioventricular... |
OMIM:615996 |
| Relapsing Polychondritis |
|
Abnormal endocardium morphology, Pericarditis, Myocarditis, Dyspnea, Limitation of joint mobility... |
ORPHA:728 |
| Scimitar Syndrome |
|
Respiratory distress, Abnormal lung morphology, Pulmonary artery hypoplasia, Cough, Atrial septal... |
ORPHA:185 |
| Succinic Acidemia |
|
Respiratory distress |
OMIM:600335 |
| Laron Syndrome |
|
Prematurely aged appearance, Short toe, Osteoarthritis, Abnormality of the elbow, Brachydactyly |
ORPHA:633 |
| Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Ventricular hypertrophy, Mitral valve calcification, Emphysema, Premature graying of hair, Premat... |
ORPHA:363618 |
| Tetrasomy 5P |
|
Respiratory distress, Recurrent respiratory infections, Redundant neck skin, Overlapping toe, Cya... |
ORPHA:3309 |
| Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome |
|
Excessive wrinkled skin, Recurrent fractures, Upper limb asymmetry, Reduced bone mineral density |
ORPHA:137608 |
| Congenital Disorder Of Glycosylation, Type Iie |
|
Death in infancy, Short neck, Secundum atrial septal defect, Neonatal asphyxia, Jaundice, Respira... |
OMIM:608779 |
| Shwachman-Diamond Syndrome 1 |
|
Myocardial necrosis, Respiratory distress, Neonatal respiratory distress, Ovoid vertebral bodies,... |
OMIM:260400 |
| Larsen Syndrome |
|
Cervical kyphosis, Short metatarsal, Atrial septal defect, Spina bifida occulta, Hypoplastic cerv... |
OMIM:150250 |
| Meckel Syndrome, Type 4 |
|
Encephalocele, Ventricular septal defect, Hydrocephalus, Meningocele, Anencephaly, Atrial septal ... |
OMIM:611134 |
| Bardet-Biedl Syndrome 2 |
|
Atrial septal defect, Dilated cardiomyopathy, Bicuspid aortic valve |
OMIM:615981 |
| Chromosome 15Q14 Deletion Syndrome |
|
Atrial septal defect, Ventricular septal defect |
OMIM:616898 |
| Restrictive Dermopathy 2 |
|
Respiratory distress, Cyanosis, Overtubulated long bones, Short clavicles, Intrauterine growth re... |
OMIM:619793 |
| Atrial Septal Defect 8 |
|
Atrial septal defect, Anomalous pulmonary venous return |
OMIM:614433 |
| Campomelia, Cumming Type |
|
Death in infancy, Abnormally ossified vertebrae, Bowing of the long bones, Prematurely aged appea... |
ORPHA:1318 |
| Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
|
Rhizomelia, Metaphyseal cupping of proximal phalanges, Metaphyseal cupping of metacarpals, Platys... |
OMIM:300863 |
| Li-Campeau Syndrome |
|
Atrial septal defect, Ventricular septal defect, Patent foramen ovale |
OMIM:619189 |
| Wiedemann-Rautenstrauch Syndrome |
|
Short neck, Secundum atrial septal defect, Flexion contracture, Genu varum, Long toe, Prematurely... |
OMIM:264090 |
| Cutis Laxa, Autosomal Recessive, Type Iia |
|
Congenital hip dislocation, Redundant skin, Cutis laxa, Excessive wrinkled skin, Scoliosis, Intra... |
OMIM:219200 |
| Ulnar/Fibula Ray Defect-Brachydactyly Syndrome |
|
Atrial septal defect |
ORPHA:52056 |
| Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema |
|
Respiratory distress, Angioedema, Erythema, Upper airway obstruction, Urticaria |
ORPHA:100057 |
| Short Stature, Developmental Delay, And Congenital Heart Defects |
|
Atrial septal defect, Patent foramen ovale, Ventricular septal defect |
OMIM:617044 |
| Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities |
|
Respiratory distress, Recurrent respiratory infections, Overlapping toe, Flexion contracture, Sco... |
OMIM:619383 |
| Pfeiffer Syndrome Type 2 |
|
Respiratory distress, Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Short hallux, Hall... |
ORPHA:93259 |
| Atrial Septal Defect 6 |
|
Atrial septal defect |
OMIM:613087 |
| Lymphangioleiomyomatosis |
|
Recurrent respiratory infections, Dyspnea, Atelectasis, Pneumothorax, Chylopericardium, Pulmonary... |
ORPHA:538 |
| Acromesomelic Dysplasia 3 |
|
Hypoplasia of the ulna, Brachydactyly, Tarsal synostosis, Short toe, Short 1st metacarpal, Widene... |
OMIM:609441 |
| Polysyndactyly With Cardiac Malformation |
|
Atrial septal defect, Stillbirth, Ventricular septal defect |
OMIM:263630 |
| Arthrogryposis, Distal, Type 5D |
|
Congenital hip dislocation, Limited elbow movement, Short neck, Limited knee flexion, Hyperlordos... |
OMIM:615065 |
| Autosomal Recessive Cutis Laxa Type 2A |
|
Congenital hip dislocation, Progeroid facial appearance, Increased susceptibility to fractures, E... |
ORPHA:357058 |
| Congenital Laryngeal Web |
|
Respiratory distress, Stridor, Abnormal cardiac septum morphology |
ORPHA:2374 |
| Classical-Like Ehlers-Danlos Syndrome Type 2 |
|
Osteopenia, Thoracic scoliosis, Redundant skin, Equinus calcaneus, Prominent veins on trunk, Shou... |
ORPHA:536532 |
| Werner Syndrome |
|
Increased bone mineral density, Miscarriage, Rocker bottom foot, Prematurely aged appearance, Joi... |
ORPHA:902 |
| Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome |
|
Neonatal death, Bilateral lung agenesis, Abnormal cardiac septum morphology, Respiratory insuffic... |
OMIM:601612 |
| Congenital Myopathy 11 |
|
Atrial septal defect, Patent foramen ovale |
OMIM:619967 |
| Autosomal Recessive Cutis Laxa Type 2, Classic Type |
|
Redundant neck skin, Congenital hip dislocation, Redundant skin, Generalized joint laxity, Abnorm... |
ORPHA:357074 |
| Synaptic Congenital Myasthenic Syndromes |
|
Respiratory distress, Hypoventilation, Scapular winging, Neonatal respiratory distress, Limited w... |
ORPHA:98915 |
| Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Redundant skin, Short neck, Delayed epiphyseal ossification, Long fibula, Narrow greater sciatic ... |
OMIM:250220 |
| Congenital Disorder Of Glycosylation, Type Ig |
|
Respiratory distress, Short humerus, Short femur, Rhizomelia, Sandal gap, Hypoplasia of the radiu... |
OMIM:607143 |
| Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Ventricular hypertrophy, Recurrent respiratory infections, Cardiomegaly, Atelectasis, Tachypnea, ... |
OMIM:618278 |
| Congenital Limbs-Face Contractures-Hypotonia-Developmental Delay Syndrome |
|
Arachnodactyly, Short neck, Flexion contracture, Calcaneovalgus deformity, Adducted thumb, Respir... |
ORPHA:562528 |
| Laryngomalacia |
|
Respiratory distress, Congenital laryngeal stridor |
OMIM:150280 |
| Wrinkly Skin Syndrome |
|
Osteopenia, Scapular winging, Congenital hip dislocation, Redundant skin, Progeroid facial appear... |
OMIM:278250 |
| Wiedemann-Rautenstrauch Syndrome |
|
Osteopenia, Congenital malformation of the left heart, Hypoplastic vertebral bodies, Long toe, 2-... |
ORPHA:3455 |
| Hadziselimovic Syndrome |
|
Atrial septal defect, Ventricular hypertrophy, Tetralogy of Fallot, Ventricular septal defect |
OMIM:612946 |
| Heterotaxy, Visceral, 7, Autosomal |
|
Cyanosis, Dextrocardia, Mitral atresia, Situs inversus totalis, Common atrium, Hypoplasia of righ... |
OMIM:616749 |
| Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia |
|
Respiratory distress, Death in infancy, Dilated cardiomyopathy, Tachypnea, Respiratory insufficie... |
OMIM:614299 |
| Atrial Septal Defect 1 |
|
Tetralogy of Fallot with pulmonary atresia, Ventricular septal defect, Bicuspid aortic valve, Sec... |
OMIM:108800 |
| Severe X-Linked Intellectual Disability, Gustavson Type |
|
Congenital hip dislocation, Ventricular septal defect, Rocker bottom foot, Calcaneovalgus deformi... |
ORPHA:3078 |
| Beta-Mercaptolactate Cysteine Disulfiduria |
|
Atrial septal defect, Umbilical hernia, Dry skin |
ORPHA:1035 |
| Episodic Ataxia Type 1 |
|
Hand clenching, Kyphoscoliosis, Respiratory distress, Scoliosis |
ORPHA:37612 |
| Lymphoid Interstitial Pneumonia |
|
Multiple pulmonary cysts, Crackles, Ground-glass opacification, Respiratory tract infection, Dysp... |
ORPHA:79128 |
| Ritscher-Schinzel Syndrome 1 |
|
Ventricular septal defect, Hydrocephalus, Double outlet right ventricle, Hypoplastic left heart, ... |
OMIM:220210 |
| Congenitally Uncorrected Transposition Of The Great Arteries |
|
Levotransposition of the great arteries, Cyanosis, Ventricular septal defect, Abnormal pulmonary ... |
ORPHA:860 |
| Cutis Laxa, Autosomal Dominant 1 |
|
Ventricular septal defect, Redundant skin, Poor wound healing, Progeroid facial appearance, Prema... |
OMIM:123700 |
| Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness |
|
Epiphyseal dysplasia, Coxa valga, Genu valgum, Short phalanx of finger, Brachydactyly |
OMIM:132450 |
| X-Linked Centronuclear Myopathy |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Recurrent respiratory i... |
ORPHA:596 |
| Brachydactyly, Type E, With Atrial Septal Defect, Type Ii |
|
Atrial septal defect |
OMIM:113301 |
| Right Atrial Isomerism |
|
Right atrial isomerism, Ventricular septal defect, Dextrocardia, Situs inversus totalis, Complete... |
OMIM:208530 |
| Noonan Syndrome With Multiple Lentigines |
|
Abnormal endocardium morphology, Scapular winging, Abnormal pulmonary valve morphology, Spina bif... |
ORPHA:500 |
| Tularemia |
|
Respiratory distress, Abnormal pulmonary thoracic imaging finding, Pneumonia, Pulmonary infiltrat... |
ORPHA:3392 |
| 46,Xx Sex Reversal 5 |
|
Secundum atrial septal defect, Hypoplastic left heart, Ventricular septal defect |
OMIM:618901 |
| Nestor-Guillermo Progeria Syndrome |
|
Prominent superficial veins, Left atrial enlargement, Limited elbow movement, Joint stiffness, Pr... |
OMIM:614008 |
| Acrodysostosis 2 With Or Without Hormone Resistance |
|
Short metacarpal, Short metatarsal, Advanced ossification of carpal bones, Spinal canal stenosis,... |
OMIM:614613 |
| Global Developmental Delay With Or Without Impaired Intellectual Development |
|
Atrial septal defect, Ventricular septal defect |
OMIM:618330 |
| Seckel Syndrome |
|
Sandal gap, Prematurely aged appearance, Craniosynostosis, Cone-shaped epiphysis, Joint hyperflex... |
ORPHA:808 |
| 22Q11.2 Deletion Syndrome |
|
Short neck, Abnormal lung lobation, Atrial septal defect, Arachnodactyly, Atelectasis, Chronic pu... |
ORPHA:567 |
| 8Q12 Microduplication Syndrome |
|
Atrial septal defect, Ventricular septal defect |
ORPHA:228399 |
| Pde4D Haploinsufficiency Syndrome |
|
Joint laxity, Short metacarpal, Broad hallux, Short toe, Short metatarsal, Upper limb undergrowth... |
ORPHA:439822 |
| Weaver Syndrome |
|
Short fourth metatarsal, Single transverse palmar crease, Calcaneovalgus deformity, Hypoplastic i... |
OMIM:277590 |
| Mucopolysaccharidosis-Plus Syndrome |
|
Respiratory distress, Recurrent respiratory infections, Short neck, Recurrent bronchopulmonary in... |
OMIM:617303 |
| Slc35A1-Cdg |
|
Respiratory distress, Pneumonia, Hypoxemia, Subcutaneous hemorrhage, Pulmonary hemorrhage |
ORPHA:238459 |
| Atelis Syndrome 1 |
|
Atrial septal defect, Dry skin, Ventricular septal defect |
OMIM:620184 |
| Progressive Supranuclear Palsy-Corticobasal Syndrome |
|
Hand clenching, Respiratory distress |
ORPHA:240103 |
| Acromesomelic Dysplasia 2B |
|
Short metacarpal, Brachydactyly, Rhizomelia, Deformed tarsal bones, Short metatarsal, Fibular hyp... |
OMIM:228900 |
| Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Ventilator dependence w... |
ORPHA:254864 |
| Ehlers-Danlos Syndrome, Cardiac Valvular Type |
|
Joint laxity, Calcaneovalgus deformity, Bruising susceptibility, Mitral valve prolapse |
OMIM:225320 |
| Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Short humerus, Sacral dimple, Dextrocardia, Proximal placement of thumb, Absent radius, Hand poly... |
OMIM:314390 |
| Cardiac Septal Defects With Coarctation Of The Aorta |
|
Secundum atrial septal defect, Perimembranous ventricular septal defect |
OMIM:212090 |
| Frontometaphyseal Dysplasia |
|
Single transverse palmar crease, Limited elbow movement, Metaphyseal widening, Short metatarsal, ... |
ORPHA:1826 |
| Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Ivory epiphyses, Short metacarpal, Bowing of the long bones, Rhizomelia, Metaphyseal spurs, Ovoid... |
ORPHA:85167 |
| Cleidocranial Dysplasia 1 |
|
Respiratory distress, Short middle phalanx of the 2nd finger, Coxa vara, Hypoplastic iliac wing, ... |
OMIM:119600 |
| Hypertelorism And Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Mental Retardation, And Recurrent Inflammatory Episodes |
|
Pericardial effusion, Small hand, Broad finger, Clinodactyly, Short phalanx of finger, Brachydactyly |
OMIM:614684 |
| Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly |
|
Muscular ventricular septal defect |
OMIM:618569 |
| Malaria |
|
Respiratory distress |
ORPHA:673 |
| Barber-Say Syndrome |
|
Brachydactyly, Redundant skin, Talipes equinovarus, Clinodactyly of the 5th finger, Premature ski... |
OMIM:209885 |
| Oculocerebrorenal Syndrome Of Lowe |
|
Death in infancy, Recurrent respiratory infections, Recurrent fractures, Osteomalacia, Joint stif... |
ORPHA:534 |
| Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion |
|
Respiratory distress, Hypoventilation, Apnea, Recurrent pneumonia, Abnormal heart morphology, Pol... |
ORPHA:314655 |
| Ataxia-Telangiectasia |
|
Recurrent respiratory infections, Telangiectasia of the skin, Prematurely aged appearance, Premat... |
ORPHA:100 |
| Aortic Valve Disease 3 |
|
Atrial septal defect, Aortic valve stenosis, Bicuspid aortic valve |
OMIM:618496 |
| Noonan Syndrome 8 |
|
Ventricular septal defect, Pulmonic stenosis, Palmoplantar cutis laxa, Atrial septal defect, Hype... |
OMIM:615355 |
| Zygomycosis |
|
Pericarditis, Sinusitis, Epistaxis, Myocarditis, Atelectasis, Pneumothorax, Osteolysis, Endocardi... |
ORPHA:73263 |
| Combined Osteogenesis Imperfecta And Ehlers-Danlos Syndrome 1 |
|
Atrial septal defect, Bruising susceptibility, Poor wound healing, Dermal translucency |
OMIM:619115 |
| Anaplastic Thyroid Carcinoma |
|
Respiratory distress, Dyspnea, Upper airway obstruction, Stridor, Neoplasm of the lung, Cough |
ORPHA:142 |
| Lenz-Majewski Hyperostotic Dwarfism |
|
Finger syndactyly, Increased bone mineral density, Prematurely aged appearance, Redundant skin, A... |
ORPHA:2658 |
| Acrootoocular Syndrome |
|
Short metacarpal, Small hypothenar eminence, Sandal gap, Decreased palmar creases, Abnormal finge... |
ORPHA:2980 |
| Atelosteogenesis, Type I |
|
Short neck, Short metatarsal, Tibial bowing, Neonatal death, Vertebral hypoplasia, Short metacarp... |
OMIM:108720 |
| Thanatophoric Dysplasia Type 2 |
|
Encephalocele, Redundant skin, Hydrocephalus, Holoprosencephaly, Atrial septal defect |
ORPHA:93274 |
| Three M Syndrome 2 |
|
Scapular winging, Lumbar hyperlordosis, Short neck, Hyperlordosis, Slender long bone, Short 5th f... |
OMIM:612921 |
| Gaucher Disease, Perinatal Lethal |
|
Respiratory distress, Purpura, Apnea, Cardiomegaly, Pulmonary hypoplasia, Neonatal death, Arthrog... |
OMIM:608013 |
| Esophageal Atresia |
|
Respiratory distress, Recurrent respiratory infections, Cyanosis, Ventricular septal defect, Bron... |
ORPHA:1199 |
| Multifocal Atrial Tachycardia |
|
Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Hypertrophic cardiomyopathy, ... |
ORPHA:3282 |
| Autism Spectrum Disorder Due To Auts2 Deficiency |
|
Atrial septal defect, Umbilical hernia, Abnormal heart morphology |
ORPHA:352490 |
| Larsen-Like Syndrome |
|
Joint laxity, Kyphoscoliosis, Talipes equinovarus, Radial deviation of the 4th finger, Clinodacty... |
OMIM:608545 |
| Heterotaxy, Visceral, 1, X-Linked |
|
Respiratory distress, Congenital hip dislocation, Cardiomegaly, Dextrotransposition of the great ... |
OMIM:306955 |
| Li-Ghorbani-Weisz-Hubshman Syndrome |
|
Atrial septal defect, Ventricular septal defect |
OMIM:618974 |
| Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects |
|
Ventricular septal defect, Secundum atrial septal defect, Subvalvular aortic stenosis, Left ventr... |
OMIM:108900 |
| Pfeiffer Syndrome Type 3 |
|
Respiratory distress, Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Short hallux, Hall... |
ORPHA:93260 |
| Auriculocondylar Syndrome 2A |
|
Respiratory distress, Apnea |
OMIM:614669 |
| Congenital Disorder Of Glycosylation, Type Ix |
|
Respiratory distress, Intrauterine growth retardation, Death in childhood |
OMIM:615597 |
| Cardiofaciocutaneous Syndrome 3 |
|
Atrial septal defect, Hypertrophic cardiomyopathy, Ventricular septal defect, Pulmonic stenosis |
OMIM:615279 |
| Focal Facial Dermal Dysplasia Type Iii |
|
Abnormal sacroiliac joint morphology, Prematurely aged appearance, Redundant skin |
ORPHA:1807 |
| Pseudoxanthoma Elasticum |
|
Abnormal endocardium morphology, Telangiectasia of the skin, Lack of skin elasticity, Mitral valv... |
ORPHA:758 |
| Progeria-Short Stature-Pigmented Nevi Syndrome |
|
Osteopenia, Thoracic scoliosis, Multiple joint contractures, Prematurely aged appearance, Lack of... |
ORPHA:2959 |
| Formiminoglutamic Aciduria |
|
Atrial septal defect |
ORPHA:51208 |
| Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Ventricular septal defect, Muscular ventricular septal defect, Hydrocephalus, Dry skin, Stillbirt... |
OMIM:210710 |
| Congenital Myasthenic Syndrome |
|
Joint laxity, Recurrent respiratory infections, Neuropathic spinal arthropathy, Congenital hip di... |
ORPHA:590 |
| Presynaptic Congenital Myasthenic Syndromes |
|
Joint laxity, Recurrent respiratory infections, Neuropathic spinal arthropathy, Congenital hip di... |
ORPHA:98914 |
| Symphalangism, Distal, With Microdontia, Dental Pulp Stones, And Narrowed Zygomatic Arch |
|
Aplasia/Hypoplasia of the middle phalanges of the hand, Absent trapezium, Cone-shaped epiphyses o... |
OMIM:606895 |
| Mitochondrial Pyruvate Carrier Deficiency |
|
Respiratory distress |
OMIM:614741 |
| Congenital Myopathy 22B, Severe Fetal |
|
Respiratory distress, Hip contracture, Scapular winging, Thoracic scoliosis, Limb joint contractu... |
OMIM:620369 |
| Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige |
|
Multiple muscular ventricular septal defects, Pulmonic stenosis |
OMIM:615508 |
| 14Q24.1Q24.3 Microdeletion Syndrome |
|
Atrial septal defect, Truncus arteriosus, Ventricular septal defect, Abnormal heart morphology |
ORPHA:401935 |
| Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted |
|
Joint laxity, Respiratory distress, Recurrent respiratory infections, Sacral dimple, Postaxial po... |
OMIM:300968 |
| Pulmonary Alveolar Microlithiasis |
|
Bronchitis, Nonproductive cough, Tachypnea, Oxygen desaturation on exertion, Respiratory tract in... |
ORPHA:60025 |
| Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis |
|
Osteopenia, Respiratory distress, Osteomyelitis, Periostitis, Osteolysis, Fused cervical vertebra... |
OMIM:612852 |
| Chromosome 6Q24-Q25 Deletion Syndrome |
|
Respiratory distress, Prominent fingertip pads, Sandal gap, Dysplastic tricuspid valve, Small han... |
OMIM:612863 |
| Heterotaxy, Visceral, 6, Autosomal |
|
Dextrocardia, Situs inversus totalis, Double outlet right ventricle, Hypoplastic left heart, Tran... |
OMIM:614779 |
| Congenital Heart Defects, Multiple Types, 6 |
|
Ventricular septal defect, Secundum atrial septal defect, Complete atrioventricular canal defect,... |
OMIM:613854 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 2 |
|
Respiratory distress, Death in infancy, Myofiber disarray, Hypertrophic cardiomyopathy, Inspirato... |
OMIM:604377 |
| Cardiofaciocutaneous Syndrome |
|
Abnormal heart valve morphology, Abnormal morphology of ulna, Redundant skin, Short neck, Genu va... |
ORPHA:1340 |
| Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Prematurely aged appearance, Progeroid facial appearance, Flexion contracture, Limitation of join... |
ORPHA:90153 |
| Fetal Trimethadione Syndrome |
|
Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Transposition of the great ... |
ORPHA:1913 |
| Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Atrial septal defect, Cardiomyopathy, Ventricular septal defect, Situs inversus totalis |
OMIM:249270 |
| Martsolf Syndrome 1 |
|
Joint laxity, Recurrent respiratory infections, Short metacarpal, Thoracic scoliosis, Lumbar hype... |
OMIM:212720 |
| Ablepharon-Macrostomia Syndrome |
|
Short metacarpal, Toe syndactyly, Redundant skin, Cutaneous finger syndactyly, Talipes equinovaru... |
OMIM:200110 |
| Surfactant Metabolism Dysfunction, Pulmonary, 5 |
|
Ground-glass opacification, Dyspnea, Intraalveolar phospholipid accumulation, Respiratory insuffi... |
OMIM:614370 |
| Linear Skin Defects With Multiple Congenital Anomalies 2 |
|
Atrial septal defect, Ventricular hypertrophy, Tetralogy of Fallot |
OMIM:300887 |
| Neurodegeneration And Seizures Due To Copper Transport Defect |
|
Respiratory distress, Short femur, Cardiomegaly, Pneumothorax, Talipes equinovarus, Pulmonary hyp... |
OMIM:620306 |
| Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Hypoplastic pubic ramus, Proximal placement of thumb, Short neck, Short metatarsal, Patellar hypo... |
OMIM:609945 |
| Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria |
|
Respiratory distress, Multiple joint contractures, Short neck, Secundum atrial septal defect, Met... |
ORPHA:99646 |
| Neurodevelopmental Disorder With Eye Movement Abnormalities And Ataxia |
|
Atrial septal defect |
OMIM:620094 |
| Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Redundant neck skin, Single transverse palmar crease, Short neck, Flexion contracture, Hemiverteb... |
ORPHA:96334 |
| Satb2-Associated Syndrome Due To A Chromosomal Rearrangement |
|
Osteopenia, Lumbar hyperlordosis, Ventricular septal defect, Broad hallux, Short neck, Slender fi... |
ORPHA:251028 |
| Nipah Virus Disease |
|
Respiratory distress, Recurrent pharyngitis, Cough |
ORPHA:99825 |
| Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive |
|
Respiratory distress, Lymphocytic interstitial pneumonia |
OMIM:245590 |
| Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant |
|
Respiratory distress, Death in infancy, Thoracic scoliosis, Respiratory failure, Chylothorax, Dea... |
OMIM:620278 |
| Autoimmune Pulmonary Alveolar Proteinosis |
|
Cyanosis, Crazy paving pattern, Crackles, Dyspnea, Clubbing, Intraalveolar phospholipid accumulat... |
ORPHA:747 |
| Premature Aging Syndrome, Penttinen Type |
|
Brachydactyly, Prominent superficial veins, Prematurely aged appearance, Recurrent fractures, Ost... |
OMIM:601812 |
| Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Limited elbow movement, Increased intervertebral space, Thoracolumbar kyphosis, Narrow greater sc... |
ORPHA:508533 |
| Carnitine Deficiency, Systemic Primary |
|
Respiratory distress, Cardiomegaly, Cardiomyopathy, Endocardial fibroelastosis, Hypertrophic card... |
OMIM:212140 |
| Progressive Supranuclear Palsy-Parkinsonism Syndrome |
|
Respiratory distress |
ORPHA:240085 |
| Immunodeficiency, Developmental Delay, And Hypohomocysteinemia |
|
Atrial septal defect, Bicuspid aortic valve |
OMIM:617744 |
| Diamond-Blackfan Anemia 6 |
|
Ventricular hypertrophy, Ventricular septal defect, Mitral valve prolapse, Atrial septal defect, ... |
OMIM:612561 |
| Wrinkly Skin Syndrome |
|
Osteopenia, Recurrent sinopulmonary infections, Congenital hip dislocation, Kyphoscoliosis, Gener... |
ORPHA:2834 |
| Recombinant Chromosome 8 Syndrome |
|
Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Double outlet right ventricle... |
OMIM:179613 |
| Opsismodysplasia |
|
Recurrent respiratory infections, Short metacarpal, Rhizomelia, Short neck, Hypoplasia of the odo... |
OMIM:258480 |
| Mogs-Cdg |
|
Respiratory distress, Hypoventilation, Thoracic scoliosis, Apnea, Cardiomegaly, Atrial septal def... |
ORPHA:79330 |
| Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
|
Bicuspid aortic valve, Spina bifida, Anomalous pulmonary venous return, Abnormal aortic valve mor... |
ORPHA:1120 |
| Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome |
|
Respiratory distress, Redundant neck skin, Ventricular septal defect, Postaxial hand polydactyly,... |
ORPHA:2519 |
| X-Linked Intellectual Disability, Hedera Type |
|
Left ventricular hypertrophy, Calcaneovalgus deformity, Hyporeflexia of upper limbs, Scoliosis |
ORPHA:93952 |
| Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Death in infancy, Hypoplasia of the ulna, Recurrent respiratory infections, Jaundice, Early ossif... |
OMIM:208500 |
| Cardiomyopathy, Dilated, 1Oo |
|
Atrial septal defect, Dilated cardiomyopathy |
OMIM:620247 |
| Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Death in early adulthood, Prominent superficial veins, Decreased adipose tissue around neck, Prog... |
OMIM:608612 |
| Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Prematurely aged appearance, Abnormal fingertip morphology, Progeroid facial appearance, Osteolys... |
ORPHA:90154 |
| Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type |
|
Shortening of all metacarpals, Shortening of all phalanges of fingers, Platyspondyly, Bilateral t... |
OMIM:601356 |
| Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities |
|
Secundum atrial septal defect, Pulmonic stenosis |
OMIM:178650 |
| Heterotaxy, Visceral, 4, Autosomal |
|
Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, Dextrotransposit... |
OMIM:613751 |
| Short Syndrome |
|
Excessive wrinkled skin, Joint hyperflexibility, Brachydactyly, Short palm |
ORPHA:3163 |
| Chromosome 17P13.3, Telomeric, Duplication Syndrome |
|
Short metacarpal, Brachydactyly, Short toe, Split hand, Short tibia, Finger symphalangism, Contra... |
OMIM:612576 |
| Microcephaly-Micromelia Syndrome |
|
Craniosynostosis, Micromelia, Absent thumb, Absent radius, Short neck, Humeroradial synostosis, F... |
OMIM:251230 |
| White Forelock With Malformations |
|
Atrial septal defect, Spina bifida occulta |
ORPHA:2475 |
| Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy |
|
Osteopenia, Recurrent respiratory infections, Respiratory distress, Contractures of the large joi... |
ORPHA:329178 |
| Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
|
Respiratory distress, Dilated cardiomyopathy, Flexion contracture, Respiratory insufficiency, Abn... |
ORPHA:367 |
| Folinic Acid-Responsive Seizures |
|
Respiratory distress, Apnea |
ORPHA:79097 |
| Congenital Diaphragmatic Hernia |
|
Respiratory distress, Pulmonary hypoplasia, Hypoxemia |
ORPHA:2140 |
| Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy) |
|
Respiratory distress |
OMIM:612075 |
| Frank-Ter Haar Syndrome |
|
Osteopenia, Redundant neck skin, Anterior concavity of thoracic vertebrae, Secundum atrial septal... |
OMIM:249420 |
| Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia |
|
Patent foramen ovale |
OMIM:617182 |
| Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome |
|
Atrial septal defect, Frontal encephalocele |
ORPHA:521308 |
| Atrial Septal Defect 9 |
|
Secundum atrial septal defect, Bicuspid aortic valve |
OMIM:614475 |
| Congenital Pulmonary Valvar Stenosis |
|
Atrial septal defect |
ORPHA:3189 |
| Lessel-Kreienkamp Syndrome |
|
Atrial septal defect, Patent foramen ovale, Bicuspid aortic valve, Pulmonic stenosis |
OMIM:619149 |
| Microlissencephaly-Micromelia Syndrome |
|
Respiratory distress, Bilateral single transverse palmar creases, Micromelia, Short neck, Adducte... |
ORPHA:50810 |
| Congenital Rubella Syndrome |
|
Atrial septal defect, Jaundice, Ventricular septal defect |
ORPHA:290 |
| Developmental And Epileptic Encephalopathy 66 |
|
Atrial septal defect, Ventricular septal defect, Dextrocardia |
OMIM:618067 |
| Idiopathic Hypereosinophilic Syndrome |
|
Myelofibrosis, Respiratory distress, Swelling of proximal interphalangeal joints, Cutis marmorata... |
ORPHA:3260 |
| Feingold Syndrome Type 1 |
|
Abnormal heart morphology, Tricuspid atresia, Tricuspid stenosis, Multiple muscular ventricular s... |
ORPHA:391641 |
| Temple-Baraitser Syndrome |
|
Atrial septal defect, Pulmonic stenosis |
OMIM:611816 |
| Focal Facial Dermal Dysplasia 3, Setleis Type |
|
Aged leonine appearance |
OMIM:227260 |
| Whim Syndrome |
|
Sinusitis, Pneumonia, Respiratory tract infection, Atelectasis, Recurrent pneumonia, Recurrent up... |
ORPHA:51636 |
| Agnathia-Otocephaly Complex |
|
Respiratory distress, Secundum atrial septal defect, Situs inversus totalis, Pulmonary hypoplasia... |
OMIM:202650 |
| Paternal 20Q13.2Q13.3 Microdeletion Syndrome |
|
Respiratory distress, Intrauterine growth retardation |
ORPHA:261304 |
| Hypoplastic Left Heart Syndrome |
|
Atrial septal defect, Mitral stenosis, Hypoplastic left heart, Mitral atresia |
ORPHA:2248 |
| Marfanoid-Progeroid-Lipodystrophy Syndrome |
|
Reduced subcutaneous adipose tissue, Hyperextensibility of the finger joints, Scapular winging, A... |
OMIM:616914 |
| Werner Syndrome |
|
Low back pain, Prematurely aged appearance, Progeroid facial appearance, Osteoporosis, Reduced bo... |
OMIM:277700 |
| Recon Progeroid Syndrome |
|
Joint laxity, Arachnodactyly, Proximal placement of thumb, Progeroid facial appearance, Livedo re... |
OMIM:620370 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Femoral bowing, Abnormal shoulder morphology, Clinodactyly of the 5th finger, Atrial septal defec... |
OMIM:274000 |
| Acquired Methemoglobinemia |
|
Respiratory distress, Dyspnea, Cyanosis, Hypoxemia |
ORPHA:464453 |
| Acrodysostosis 1 With Or Without Hormone Resistance |
|
Short metacarpal, Brachydactyly, Neonatal epiphyseal stippling, Short metatarsal, Broad palm, Con... |
OMIM:101800 |
| Idiopathic Neonatal Atrial Flutter |
|
Respiratory distress, Tachypnea |
ORPHA:45452 |
| Cardiospondylocarpofacial Syndrome |
|
Ventricular septal defect, Muscular ventricular septal defect, Dysplastic tricuspid valve, Atrial... |
OMIM:157800 |
| Wiedemann-Steiner Syndrome |
|
Joint laxity, Sacral dimple, Tapered finger, Contracture of the distal interphalangeal joint of t... |
OMIM:605130 |
| Atrial Septal Defect 5 |
|
Secundum atrial septal defect |
OMIM:612794 |
| Atrial Septal Defect 3 |
|
Secundum atrial septal defect |
OMIM:614089 |
| Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type |
|
Micromelia, Bowing of the legs, Short neck, Knee flexion contracture, Abnormal calcification of t... |
OMIM:271665 |
| Cockayne Syndrome |
|
Reduced subcutaneous adipose tissue, Kyphosis, Contractures of the large joints, Congenital contr... |
ORPHA:191 |
| Thanatophoric Dysplasia |
|
Atrial septal defect, Hydrocephalus, Redundant skin |
ORPHA:2655 |
| Congenital Heart Block |
|
Cyanosis, Pericardial effusion, Pallor, Endocardial fibroelastosis, Patent foramen ovale |
ORPHA:60041 |
| Complete Atrioventricular Septal Defect |
|
Cyanosis, Intercostal retractions, Crackles, Cardiomegaly, Complete atrioventricular canal defect... |
ORPHA:1329 |
| Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
|
Bicuspid aortic valve, Muscular ventricular septal defect, Perimembranous ventricular septal defe... |
OMIM:612474 |
| Developmental And Epileptic Encephalopathy 102 |
|
Atrial septal defect, Situs inversus totalis |
OMIM:619881 |
| Codas Syndrome |
|
Short humerus, Short metacarpal, Congenital hip dislocation, Ventricular septal defect, Metaphyse... |
OMIM:600373 |
| Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome |
|
Atrial septal defect, Ventricular septal defect, Hypoplastic right heart |
OMIM:618142 |
| Hypoglossia With Situs Inversus |
|
Situs inversus totalis, Upper airway obstruction, Respiratory distress |
OMIM:612776 |
| Congenital Alveolar Capillary Dysplasia |
|
Respiratory distress, Bicuspid aortic valve, Ventricular septal defect, Pulmonary valve atresia, ... |
ORPHA:210122 |
| 15Q11.2 Microdeletion Syndrome |
|
Ventricular septal defect, Abnormal heart morphology, Total anomalous pulmonary venous return, At... |
ORPHA:261183 |
| Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Reduced subcutaneous adipose tissue, Ventricular septal defect, Mitral atresia, Muscular ventricu... |
OMIM:619503 |
| Trichothiodystrophy |
|
Osteopenia, Increased bone mineral density, Multiple joint contractures, Ventricular septal defec... |
ORPHA:33364 |
| N-Acetylglutamate Synthase Deficiency |
|
Respiratory distress |
OMIM:237310 |
| Bacterial Toxic-Shock Syndrome |
|
Respiratory distress, Osteomyelitis, Sinusitis, Pneumonia, Respiratory tract infection, Myocardit... |
ORPHA:36234 |
| Acquired Partial Lipodystrophy |
|
Progeroid facial appearance |
ORPHA:79087 |
| Frontoocular Syndrome |
|
Atrial septal defect, Pulmonic stenosis |
OMIM:605321 |
| Thyroid Lymphoma |
|
Respiratory distress, Dyspnea, Stridor, Upper airway obstruction |
ORPHA:97285 |
| Granulomatous Disease, Chronic, X-Linked |
|
Osteomyelitis, Atelectasis, Recurrent pneumonia, Air bronchogram, Cough, Pleural effusion |
OMIM:306400 |
| Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Respiratory distress, Ventricular septal defect, Episodic tachypnea, Pneumonia, Pericardial effus... |
ORPHA:26793 |
| Familial Cutaneous Collagenoma |
|
Atrial septal defect, Cardiomyopathy |
ORPHA:53296 |
| Mandibulofacial Dysostosis, Guion-Almeida Type |
|
Respiratory distress, Ventricular septal defect, Proximal placement of thumb, Preaxial hand polyd... |
OMIM:610536 |
| Mgat2-Cdg |
|
Osteopenia, Respiratory distress, Ventricular septal defect, Kyphosis, Abnormal heart morphology,... |
ORPHA:79329 |
| Hyperinsulinemic Hypoglycemia, Familial, 8 |
|
Atrial septal defect |
OMIM:620211 |
| Megalencephaly |
|
Atrial septal defect |
ORPHA:2477 |
| Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Respiratory distress, Recurrent respiratory infections, Lumbar hyperlordosis, Joint stiffness, Sh... |
ORPHA:505248 |
| Partial Atrioventricular Septal Defect |
|
Bicuspid aortic valve, Coronary sinus enlargement, Partial atrioventricular canal defect, Common ... |
ORPHA:1330 |
| Pentalogy Of Cantrell |
|
Encephalocele, Ventricular septal defect, Abnormal pericardium morphology, Hydrocephalus, Anencep... |
ORPHA:1335 |
| Developmental And Epileptic Encephalopathy 90 |
|
Atrial septal defect |
OMIM:301058 |
| Prader-Willi Syndrome Due To Translocation |
|
Respiratory distress, Recurrent respiratory infections, Overlapping toe, Short neck, Small hand, ... |
ORPHA:177907 |
| Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Cardiomegaly, Respirato... |
ORPHA:308552 |
| 3C Syndrome |
|
Ventricular septal defect, Abnormal mitral valve morphology, Hydrocephalus, Abnormal tricuspid va... |
ORPHA:7 |
| Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies |
|
Ventricular septal defect, Parachute mitral valve, Atrial septal defect, Double outlet right vent... |
OMIM:618316 |
| Hyperparathyroidism, Transient Neonatal |
|
Osteopenia, Respiratory distress, Short femur, Recurrent fractures, Metaphyseal spurs, Femoral bo... |
OMIM:618188 |
| Down Syndrome |
|
Joint laxity, Sandal gap, Bilateral single transverse palmar creases, Prematurely aged appearance... |
ORPHA:870 |
| Meacham Syndrome |
|
Bicuspid aortic valve, Ventricular septal defect, Dextrocardia, Partial anomalous pulmonary venou... |
OMIM:608978 |
| Even-Plus Syndrome |
|
Atrial septal defect, Patent foramen ovale |
OMIM:616854 |
| Trichorhinophalangeal Syndrome Type 1 |
|
Short metacarpal, Camptodactyly of finger, Hyperlordosis, Avascular necrosis of the capital femor... |
ORPHA:77258 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Respiratory distress, Cardiomyopathy |
ORPHA:79312 |
| Gapo Syndrome |
|
Prematurely aged appearance, Abnormal form of the vertebral bodies, Joint hyperflexibility, Abnor... |
ORPHA:2067 |
| Triosephosphate Isomerase Deficiency |
|
