Ciliary Dyskinesia, Primary, 29 |
|
Infertility, Ciliary dyskinesia, Bronchiectasis, Recurrent respiratory infections, Decreased nasa... |
OMIM:615872 |
Asbestos Intoxication |
|
Wheezing, Lung adenocarcinoma, Pleural thickening, Exertional dyspnea, Restrictive ventilatory de... |
ORPHA:2302 |
Bronchopulmonary Dysplasia |
|
Wheezing, Central apnea, Hyperoxemia, Tracheobronchomalacia, Abnormal respiratory system physiolo... |
ORPHA:70589 |
Neurogenic Thoracic Outlet Syndrome |
|
Abnormal rib morphology |
ORPHA:100073 |
Mucus Inspissation Of Respiratory Tract |
|
Chronic pulmonary obstruction, Bronchiectasis, Chronic sinusitis, Recurrent respiratory infection... |
OMIM:253240 |
Ciliary Dyskinesia, Primary, 21 |
|
Neonatal respiratory distress, Ciliary dyskinesia, Bronchiectasis, Chronic sinusitis, Recurrent p... |
OMIM:615294 |
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome |
|
Pectus carinatum, Abnormality of the elbow, Finger syndactyly, Abnormal rib morphology, Clinodact... |
ORPHA:3268 |
Ciliary Dyskinesia, Primary, 33 |
|
Ciliary dyskinesia, Recurrent bronchitis, Bronchiectasis, Chronic rhinitis, Cough, Recurrent lowe... |
OMIM:616726 |
Acute Interstitial Pneumonia |
|
Reticulonodular pattern on pulmonary HRCT, Hypoxemia, Crackles, Bronchiectasis, Tachypnea, Interl... |
ORPHA:79126 |
Jeune Syndrome |
|
Toe syndactyly, Aplasia/Hypoplasia of the lungs, Cone-shaped epiphysis, Respiratory insufficiency... |
ORPHA:474 |
Pulmonary Blastoma |
|
Cough, Pulmonary infiltrates, Recurrent pneumonia, Dyspnea, Pleuropulmonary blastoma |
ORPHA:64741 |
Ciliary Dyskinesia, Primary, 47, And Lissencephaly |
|
Bronchiectasis, Respiratory distress, Abnormal mucociliary clearance, Recurrent respiratory infec... |
OMIM:619466 |
Recurrent Respiratory Papillomatosis |
|
Wheezing, Stridor, Respiratory insufficiency, Tachypnea, Upper airway obstruction, Respiratory di... |
ORPHA:60032 |
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome |
|
Wheezing, Honeycomb lung, Hypoxemia, Chronic bronchitis, Chronic pulmonary obstruction, Bronchiec... |
ORPHA:79127 |
Infant Acute Respiratory Distress Syndrome |
|
Hypoxemia, Pneumonia, Tachypnea, Abnormal thorax morphology, Respiratory tract infection, Pulmona... |
ORPHA:70587 |
Ciliary Dyskinesia, Primary, 20 |
|
Ciliary dyskinesia, Bronchiectasis, Respiratory insufficiency due to defective ciliary clearance,... |
OMIM:615067 |
Meconium Aspiration Syndrome |
|
Wheezing, Hypoxemia, Intrauterine growth retardation, Atelectasis, Transient pulmonary infiltrate... |
ORPHA:70588 |
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction |
|
Wheezing, Hypoxemia, Neonatal respiratory distress, Crackles, Elevated bronchoalveolar lavage flu... |
OMIM:610978 |
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome |
|
Abnormal rib morphology |
ORPHA:2435 |
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections, With Or Without Deafness |
|
Chronic sinusitis, Atelectasis, Recurrent bronchitis |
OMIM:300455 |
Heart Defects-Limb Shortening Syndrome |
|
Death in infancy, Abnormality of the metaphysis, Narrow chest, Abnormal rib morphology, Abnormali... |
ORPHA:1354 |
Respiratory Distress Syndrome In Premature Infants |
|
Neonatal respiratory distress, Tachypnea, Respiratory distress, Pulmonary edema, Dyspnea, Atelect... |
OMIM:267450 |
Idiopathic Chronic Eosinophilic Pneumonia |
|
Wheezing, Hypoxemia, Crackles, Abnormal pulmonary thoracic imaging finding, Hypersensitivity pneu... |
ORPHA:2902 |
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly |
|
Horizontal ribs, Lateral clavicle hook, Respiratory insufficiency, Postaxial polydactyly, Narrow ... |
OMIM:615633 |
Spondylometaphyseal Dysplasia, Type A4 |
|
Broad ischia, Coxa valga, Pectus carinatum, Metaphyseal widening, Metaphyseal irregularity, Costo... |
OMIM:609052 |
Myotubular Myopathy With Abnormal Genital Development |
|
Death in infancy, Thin ribs, Neonatal death, Joint hypermobility, Respiratory distress, Atelectasis |
OMIM:300219 |
Surfactant Metabolism Dysfunction, Pulmonary, 3 |
|
Death in infancy, Desquamative interstitial pneumonitis, Neonatal respiratory distress, Nonspecif... |
OMIM:610921 |
Primary Ciliary Dyskinesia |
|
Wheezing, Productive cough, Pulmonary situs ambiguus, Neonatal respiratory distress, Bronchiectas... |
ORPHA:244 |
Tracheobronchopathia Osteochondroplastica |
|
Wheezing, Productive cough, Stridor, Respiratory insufficiency, Pneumonia, Upper airway obstructi... |
ORPHA:3348 |
Thanatophoric Dysplasia, Type Ii |
|
Small abnormally formed scapulae, Short greater sciatic notch, Respiratory insufficiency, Wide-cu... |
OMIM:187601 |
Idiopathic Pulmonary Fibrosis |
|
Honeycomb lung, Crackles, Bronchiectasis, Ground-glass opacification, Cough, Exertional dyspnea, ... |
ORPHA:2032 |
Familial Nasal Acilia |
|
Bronchiectasis, Chronic rhinitis, Chronic sinusitis, Respiratory distress, Recurrent upper respir... |
ORPHA:922 |
Kyphomelic Dysplasia |
|
Anterior rib cupping, Lateral clavicle hook, Bowing of the long bones, Missing ribs, Abnormality ... |
ORPHA:1801 |
Metatropic Dysplasia |
|
Long thorax, Aplasia/Hypoplasia of the lungs, Abnormality of the metaphysis, Abnormal cortical bo... |
ORPHA:2635 |
Spondylometaphyseal Dysplasia, Axial |
|
Proximal femoral metaphyseal irregularity, Thoracic hypoplasia, Anterior rib cupping, Reduced spe... |
OMIM:602271 |
Plectin-Related Limb-Girdle Muscular Dystrophy R17 |
|
Achilles tendon contracture, Bronchiolitis, Exertional dyspnea, Decreased cervical spine flexion ... |
ORPHA:254361 |
Endosteal Hyperostosis, Worth Type |
|
Diaphyseal thickening, Generalized osteosclerosis, Abnormal cortical bone morphology, Clavicular ... |
ORPHA:2790 |
Idiopathic Bronchiectasis |
|
Wheezing, Productive cough, Abnormal respiratory system physiology, Crackles, Bronchiectasis, Red... |
ORPHA:60033 |
Rowley-Rosenberg Syndrome |
|
Pulmonary arterial hypertension, Recurrent pneumonia, Atelectasis |
OMIM:268500 |
Axial Spondylometaphyseal Dysplasia |
|
Abnormal ilium morphology, Upper limb undergrowth, Neonatal respiratory distress, Short ribs, Cup... |
ORPHA:168549 |
Thoracic Dysostosis, Isolated |
|
Bell-shaped thorax, Pectus excavatum, Recurrent respiratory infections, Short ribs |
OMIM:187750 |
Hypophosphatasia |
|
Respiratory insufficiency, Bowing of the long bones, Craniosynostosis, Abnormality of the metaphy... |
ORPHA:436 |
Bronchogenic Cyst |
|
Pneumonia, Bronchogenic cyst, Cough, Abnormal pleura morphology, Pulmonary cyst, Dyspnea, Abnorma... |
ORPHA:2357 |
Surfactant Metabolism Dysfunction, Pulmonary, 1 |
|
Death in infancy, Desquamative interstitial pneumonitis, Neonatal respiratory distress, Tachypnea... |
OMIM:265120 |
Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Upper limb undergrowth, Abnormal joint morphology, Pectus carinatum, Abnormality of epiphysis mor... |
ORPHA:93351 |
Short-Rib Thoracic Dysplasia 12 |
|
Horizontal ribs, Intrauterine growth retardation, Pulmonary hypoplasia, Hypoplastic scapulae, Bow... |
OMIM:269860 |
Bronchiolitis Obliterans With Obstructive Pulmonary Disease |
|
Bronchiolitis obliterans, Hypoxemia, Pneumonia, Bronchiectasis, Reduced forced expiratory volume ... |
ORPHA:1303 |
Diastrophic Dysplasia |
|
Intrauterine growth retardation, Respiratory insufficiency, Short finger, Abnormality of epiphysi... |
ORPHA:628 |
Aspergillosis |
|
Sinusitis, Pleuritis, Chronic pulmonary obstruction, Abnormality of long bone morphology, Hyperse... |
ORPHA:1163 |
Idiopathic Acute Eosinophilic Pneumonia |
|
Respiratory insufficiency, Abnormal pattern of respiration, Cough, Pulmonary infiltrates, Abnorma... |
ORPHA:724 |
Craniodiaphyseal Dysplasia |
|
Craniofacial hyperostosis, Abnormal rib morphology, Diaphyseal thickening |
ORPHA:1513 |
Histiocytosis, Familial Lipochrome |
|
Polyarticular arthritis, Pulmonary infiltrates |
OMIM:235900 |
Schneckenbecken Dysplasia |
|
Anterior rib cupping, Lateral clavicle hook, Hypoplastic scapulae, Metaphyseal irregularity, Shor... |
OMIM:269250 |
Spondylocostal Dysostosis 2, Autosomal Recessive |
|
Restrictive ventilatory defect, Recurrent respiratory infections, Rib fusion |
OMIM:608681 |
Waardenburg Syndrome Type 3 |
|
Cutaneous finger syndactyly, Synostosis of carpal bones, Abnormality of finger, Camptodactyly of ... |
ORPHA:896 |
Farber Disease |
|
Abnormality of the knee, Abnormality of the elbow, Short finger, Respiratory insufficiency, Abnor... |
ORPHA:333 |
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies |
|
Male hypogonadism, Hypergonadotropic hypogonadism, Superior rib anomalies |
OMIM:307500 |
Grant Syndrome |
|
Abnormality of the glenoid fossa, Bowing of the long bones, Joint dislocation, Wormian bones, Abn... |
ORPHA:2097 |
Sarcoidosis, Susceptibility To, 2 |
|
Hypoxemia, Bronchiectasis, Pneumothorax, Pulmonary arterial hypertension, Elevated bronchoalveola... |
OMIM:612387 |
Thanatophoric Dysplasia, Type I |
|
Short greater sciatic notch, Small abnormally formed scapulae, Respiratory insufficiency, Wide-cu... |
OMIM:187600 |
Thin Ribs-Tubular Bones-Dysmorphism Syndrome |
|
Abnormality of pelvic girdle bone morphology, Intrauterine growth retardation, Abnormal rib morph... |
ORPHA:1506 |
Achondrogenesis, Type Ia |
|
Short clavicles, Hypoplastic scapulae, Abnormal hand bone ossification, Unossified vertebral bodi... |
OMIM:200600 |
Microcephalic Primordial Dwarfism, Toriello Type |
|
Intrauterine growth retardation, Abnormality of epiphysis morphology, Abnormal rib morphology, Re... |
ORPHA:2643 |
Emphysema, Hereditary Pulmonary |
|
Chronic pulmonary obstruction, Emphysema, Chronic bronchitis |
OMIM:130700 |
Mesomelic Dysplasia, Kantaputra Type |
|
Tarsal synostosis, Abnormality of the humerus, Ulnar deviation of finger, Cubitus valgus, Synosto... |
ORPHA:1836 |
Acrocapitofemoral Dysplasia |
|
Short middle phalanx of finger, Genu varum, Dysplasia of the femoral head, Cone-shaped epiphysis ... |
OMIM:607778 |
Surfactant Metabolism Dysfunction, Pulmonary, 2 |
|
Desquamative interstitial pneumonitis, Nonspecific interstitial pneumonia, Spontaneous pneumothor... |
OMIM:610913 |
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Hallux valgus, Dysplasia of the femoral head, Restrictive ventilatory defect, Radioulnar synostos... |
ORPHA:536467 |
Autosomal Dominant Spondylocostal Dysostosis |
|
Intrauterine growth retardation, Posterior rib fusion, Short thorax, Missing ribs, Abnormal rib m... |
ORPHA:1797 |
Cutis Laxa-Marfanoid Syndrome |
|
Arachnodactyly, Hip dislocation, Flexion contracture, Limitation of joint mobility, Emphysema |
ORPHA:171719 |
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Thoracic hypoplasia, Horizontal ribs, Lateral clavicle hook, Postaxial polydactyly, Short ribs, H... |
OMIM:617895 |
Achondrogenesis Type 1B |
|
Aplasia/Hypoplasia of the lungs, Short thorax, Short foot, Narrow chest, Abnormal rib morphology,... |
ORPHA:93298 |
Achondrogenesis, Type Ii |
|
Horizontal ribs, Broad long bones, Hypoplastic iliac wing, Short ribs, Stillbirth, Absent vertebr... |
OMIM:200610 |
Lethal Congenital Contracture Syndrome Type 1 |
|
Pulmonary hypoplasia, Abnormality of the elbow, Abnormal cortical bone morphology, Abnormal rib m... |
ORPHA:1486 |
Holt-Oram Syndrome |
|
Pectus excavatum, Triphalangeal thumb, Phocomelia, Aplasia/Hypoplasia of the radius, Abnormal cla... |
ORPHA:392 |
Ciliary Dyskinesia, Primary, 1 |
|
Pneumonia, Recurrent bronchitis, Bronchiectasis, Chronic rhinitis, Ciliary dyskinesia, Chronic si... |
OMIM:244400 |
Melnick-Needles Syndrome |
|
Short clavicles, Respiratory insufficiency, Bowing of the long bones, Short thorax, Abnormality o... |
ORPHA:2484 |
Spondylocostal Dysostosis 1, Autosomal Recessive |
|
Death in infancy, Vertebral fusion, Block vertebrae, Recurrent respiratory infections, Rib fusion |
OMIM:277300 |
Hyperparathyroidism, Transient Neonatal |
|
Thin ribs, Short ribs, Osteopenia, Respiratory distress, Narrow chest, Femoral bowing |
OMIM:618188 |
Craniosynostosis, Herrmann-Opitz Type |
|
Aplasia/Hypoplasia of the lungs, Intrauterine growth retardation, Craniosynostosis, Split hand, F... |
ORPHA:2145 |
Autosomal Dominant Hyper-Ige Syndrome |
|
Atelectasis, Craniosynostosis, Cough, Osteomyelitis, Osteopenia, Recurrent respiratory infections... |
ORPHA:2314 |
Osteogenesis Imperfecta, Type Ix |
|
Short lower limbs, Pectus excavatum, Decreased calvarial ossification, Pectus carinatum, Wormian ... |
OMIM:259440 |
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
|
Death in infancy, Triphalangeal thumb, Aplasia/Hypoplasia of the lungs, Respiratory insufficiency... |
ORPHA:1120 |
Craniodiaphyseal Dysplasia, Autosomal Dominant |
|
Thickened ribs, Diaphyseal sclerosis, Craniofacial hyperostosis, Cortical sclerosis, Craniofacial... |
OMIM:122860 |
Achondrogenesis Type 1A |
|
Aplasia/Hypoplasia of the lungs, Multiple rib fractures, Short thorax, Short foot, Narrow chest, ... |
ORPHA:93299 |
Thoracolaryngopelvic Dysplasia |
|
Horizontal ribs, Irregular chondrocostal junctions, Hypoplastic iliac wing, Metaphyseal widening,... |
OMIM:187760 |
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type |
|
Irregular epiphyses, Small epiphyses, Metaphyseal spurs, Thoracic hypoplasia, Bowing of the legs,... |
OMIM:608728 |
Imperforate Oropharynx-Costovertebral Anomalies Syndrome |
|
Missing ribs, Arachnodactyly, Respiratory distress, Recurrent respiratory infections, Abnormal ri... |
ORPHA:2759 |
Spondylometaphyseal Dysplasia, A4 Type |
|
Coxa vara, Limitation of joint mobility, Flared, irregular rib ends, Short palm |
ORPHA:168555 |
Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Upper limb undergrowth, Metaphyseal dysplasia, Pectus carinatum, Capitate-hamate fusion, Short me... |
OMIM:271650 |
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Abnormality of epiphysis morphology, Bowing of the long bones, Abnormal clavicle morphology, Abno... |
ORPHA:93267 |
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome |
|
Tibial bowing, Radial bowing, Intrauterine growth retardation, Abnormally ossified vertebrae, Low... |
ORPHA:3035 |
Dyggve-Melchior-Clausen Disease |
|
Metaphyseal dysplasia, Hypoplastic acetabulae, Epiphyseal dysplasia, Short thorax, Iliac crest se... |
ORPHA:239 |
Osteogenesis Imperfecta, Type Ii |
|
Thoracic hypoplasia, Tibial bowing, Broad long bones, Thin ribs, Respiratory insufficiency, Wormi... |
OMIM:166210 |
Metaphyseal Chondrodysplasia, Schmid Type |
|
Osteosclerosis of ribs, Genu varum, Metaphyseal irregularity, Short tubular bones of the hand, Fe... |
ORPHA:174 |
Alpha-1-Antitrypsin Deficiency |
|
Wheezing, Chronic pulmonary obstruction, Chronic bronchitis, Panacinar emphysema, Dyspnea |
OMIM:613490 |
Lymphangiectasia, Intestinal |
|
Stillbirth, Prominent floating ribs |
OMIM:152800 |
Greenberg Dysplasia |
|
Epiphyseal stippling, Neonatal death, Short ribs, Abnormal bone structure, Multiple prenatal frac... |
OMIM:215140 |
Cutis Laxa, Neonatal, With Marfanoid Phenotype |
|
Hip dislocation, Emphysema, Arachnodactyly |
OMIM:614100 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
|
Tibial bowing, Fibular bowing, Thin bony cortex, Deformed rib cage, Bowing of the legs, Enlargeme... |
OMIM:600081 |
Cortical Defects, Wormian Bones, And Dentinogenesis Imperfecta |
|
Thin ribs, Delayed closure of the anterior fontanelle, Asymmetry of the thorax, Increased suscept... |
OMIM:604922 |
Fibrochondrogenesis 1 |
|
Broad ischia, Short ribs, Joint contracture of the hand, Camptodactyly, Short long bone, Anterior... |
OMIM:228520 |
Cat-Eye Syndrome |
|
Intrauterine growth retardation, Hip dysplasia, Abnormal rib morphology |
ORPHA:195 |
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness |
|
Hypoplastic iliac wing, Enlarged metacarpal epiphyses, Broad toe, Cupped ribs, Short foot, Enlarg... |
OMIM:609616 |
Juberg-Hayward Syndrome |
|
Toe syndactyly, Intrauterine growth retardation, Abnormality of the elbow, Hammertoe, Hypoplasia ... |
ORPHA:2319 |
Chronic Beryllium Disease |
|
Reticulonodular pattern on pulmonary HRCT, Abnormal respiratory system physiology, Lymphocytic in... |
ORPHA:133 |
Pulmonary Hemosiderosis |
|
Pulmonary fibrosis, Respiratory insufficiency, Recurrent intrapulmonary hemorrhage, Transient pul... |
OMIM:178550 |
Autosomal Recessive Kenny-Caffey Syndrome |
|
Cortical thickening of long bone diaphyses, Thin clavicles, Intrauterine growth retardation, Thin... |
ORPHA:93324 |
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome |
|
Decreased calvarial ossification, Intrauterine growth retardation, Abnormal rib morphology, Recur... |
ORPHA:2772 |
Holzgreve Syndrome |
|
Abnormality of the ulna, Aplasia/Hypoplasia of the lungs, Intrauterine growth retardation, Abnorm... |
ORPHA:2167 |
Poland Syndrome |
|
Unilateral oligodactyly, Short ribs, Sprengel anomaly, Syndactyly, Rib fusion, Unilateral brachyd... |
OMIM:173800 |
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency |
|
Neonatal respiratory distress, Interstitial pneumonitis, Tachypnea, Spontaneous neonatal pneumoth... |
ORPHA:217563 |
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
|
Intrauterine growth retardation, Thin ribs, Hypoplastic iliac wing, Metaphyseal cupping of metaca... |
OMIM:300863 |
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type |
|
Metaphyseal cupping, Thin ribs, Short ribs, Narrow chest, Hypoplastic ischia, Hypoplastic pubic b... |
OMIM:151210 |
Spondylocostal Dysostosis 3, Autosomal Recessive |
|
Rib fusion, Supernumerary vertebral ossification centers, Slender finger |
OMIM:609813 |
10Q22.3Q23.3 Microduplication Syndrome |
|
Abnormal clavicle morphology, Abnormal rib morphology |
ORPHA:276422 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Thoracic hypoplasia, Intrauterine growth retardation, Adducted thumb, Decreased fibular diameter,... |
OMIM:616897 |
Mosaic Trisomy 14 |
|
Narrow chest, Abnormal rib morphology, Camptodactyly of finger |
ORPHA:1703 |
Spondylocostal Dysostosis 4, Autosomal Recessive |
|
Vertebral fusion, Missing ribs, Short thorax, Block vertebrae, Restrictive ventilatory defect, Ri... |
OMIM:613686 |
Pseudoachondroplasia |
|
Genu varum, Fragmented epiphyses, Metaphyseal irregularity, Genu recurvatum, Fragmented, irregula... |
OMIM:177170 |
Phaver Syndrome |
|
Broad hallux phalanx, Triphalangeal thumb, Intrauterine growth retardation, Ulnar deviation of fi... |
ORPHA:2876 |
Spondyloepimetaphyseal Dysplasia, Strudwick Type |
|
C1-C2 subluxation, Metaphyseal dappling, Anterior rib cupping, Pectus carinatum, Metaphyseal irre... |
OMIM:184250 |
Infantile-Onset X-Linked Spinal Muscular Atrophy |
|
Interphalangeal joint contracture of finger, Ankle flexion contracture, Hip contracture, Respirat... |
ORPHA:1145 |
Scedosporiosis |
|
Sinusitis, Arthralgia/arthritis, Bronchial breath sound, Abnormal respiratory system physiology, ... |
ORPHA:449280 |
Allergic Bronchopulmonary Aspergillosis |
|
Respiratory insufficiency, Bronchiectasis, Pulmonary arterial hypertension, Cough, Asthma, Emphysema |
ORPHA:1164 |
Cooper-Jabs Syndrome |
|
Respiratory insufficiency, Missing ribs, Proximal placement of thumb, Reduced bone mineral densit... |
ORPHA:1488 |
Lymphoid Interstitial Pneumonia |
|
Wheezing, Subpleural interstitial thickening, Hypoxemia, Crackles, Bronchiectasis, Centrilobular ... |
ORPHA:79128 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3 |
|
Knee dislocation, Thin ribs, Tapered finger, Multiple joint dislocation, Metaphyseal irregularity... |
OMIM:618395 |
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Death in infancy, Metaphyseal irregularity, Short ribs, Foot polydactyly, Hand polydactyly, Recur... |
OMIM:208500 |
3M Syndrome |
|
Horizontal ribs, Intrauterine growth retardation, Thin ribs, Rocker bottom foot, Abnormality of t... |
ORPHA:2616 |
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy |
|
Small epiphyses, Anterior rib cupping, Thin ribs, Short finger, Metaphyseal cupping of metacarpal... |
OMIM:300232 |
Stuve-Wiedemann Syndrome 1 |
|
Broad ischia, Metaphyseal rarefaction, Thickened cortex of long bones, Apnea, Pathologic fracture... |
OMIM:601559 |
Renal Dysplasia-Limb Defects Syndrome |
|
Fibular aplasia, Intrauterine growth retardation, Thin ribs, Phocomelia, Pneumothorax, Aplasia of... |
OMIM:266910 |
Kenny-Caffey Syndrome, Type 1 |
|
Thin clavicles, Long clavicles, Intrauterine growth retardation, Thin ribs, Delayed closure of th... |
OMIM:244460 |
Lymphangioleiomyomatosis |
|
Pneumothorax, Cough, Pulmonary lymphangiomyomatosis, Pulmonary infiltrates, Restrictive ventilato... |
ORPHA:538 |
Fibrochondrogenesis |
|
Respiratory insufficiency, Hypoplastic scapulae, Abnormality of the metaphysis, Short ribs, Narro... |
ORPHA:2021 |
Surfactant Metabolism Dysfunction, Pulmonary, 5 |
|
Respiratory insufficiency, Interlobular septal thickening, Ground-glass opacification, Exertional... |
OMIM:614370 |
Femoral-Facial Syndrome |
|
Sprengel anomaly, Coxa vara, Hip dysplasia, Abnormality of fibula morphology, Abnormal rib morpho... |
ORPHA:1988 |
Cleidocranial Dysplasia |
|
Sinusitis, Sleep apnea, Abnormality of pelvic girdle bone morphology, Recurrent respiratory infec... |
ORPHA:1452 |
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
|
Intercostal muscle weakness, Respiratory insufficiency, Pulmonary arterial hypertension, Recurren... |
ORPHA:258 |
Multiple Pterygium Syndrome, X-Linked |
|
Intrauterine growth retardation, Vertebral fusion, Thin ribs, Short finger, Increased susceptibil... |
OMIM:312150 |
Pulmonary Alveolar Microlithiasis |
|
Pleural thickening, Exertional dyspnea, Restrictive ventilatory defect, Respiratory failure, Club... |
ORPHA:60025 |
Metaphyseal Dysostosis, Mental Retardation, And Conductive Deafness |
|
Metaphyseal dysplasia, Genu varum, Irregular chondrocostal junctions, Metaphyseal irregularity, S... |
OMIM:250420 |
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe |
|
Bifid sternum, Supraumbilical raphe |
OMIM:140850 |
Staphylococcal Necrotizing Pneumonia |
|
Hypoxemia, Pneumonia, Tachypnea, Pneumothorax, Cough, Pleural empyema, Respiratory distress, Pulm... |
ORPHA:36238 |
White Forelock With Malformations |
|
Finger syndactyly, Sprengel anomaly, Abnormal rib morphology, Clinodactyly of the 5th finger, Joi... |
ORPHA:2475 |
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis |
|
Periostitis, Fused cervical vertebrae, Osteopenia, Osteomyelitis, Respiratory distress, Pulmonary... |
OMIM:612852 |
Hypophosphatemic Rickets With Hypercalciuria, Hereditary |
|
Hypophosphatemic rickets, Tibial bowing, Fibular bowing, Thin bony cortex, Deformed rib cage, Bow... |
OMIM:241530 |
Dyggve-Melchior-Clausen Disease |
|
Genu varum, Shield chest, Short metatarsal, Prominent calcaneus, Enlargement of the costochondral... |
OMIM:223800 |
Surfactant Metabolism Dysfunction, Pulmonary, 4 |
|
Reduced forced expiratory volume in one second, Tachypnea, Ground-glass opacification, Decreased ... |
OMIM:300770 |
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Death in infancy, Intrauterine growth retardation, Abnormality of the calcaneus, Thin ribs, Hypop... |
ORPHA:163966 |
Multiple Pterygium Syndrome, Lethal Type |
|
Intrauterine growth retardation, Vertebral fusion, Thin ribs, Short finger, Increased susceptibil... |
OMIM:253290 |
Idiopathic Pulmonary Hemosiderosis |
|
Restrictive ventilatory defect, Crackles, Ground-glass opacification, Cough, Respiratory failure,... |
ORPHA:99931 |
Pulmonary Non-Tuberculous Mycobacterial Infection |
|
Chronic pulmonary obstruction, Crackles, Bronchiectasis, Pneumothorax, Cough, Respiratory distres... |
ORPHA:411703 |
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2 |
|
Abnormal rib morphology, Azoospermia |
ORPHA:2578 |
Pulmonary Alveolar Proteinosis, Acquired |
|
Hypoxemia, Lung abscess, Pneumonia, Cough, Clubbing, Decreased DLCO, Restrictive ventilatory defe... |
OMIM:610910 |
Mucopolysaccharidosis, Type Iva |
|
Restrictive ventilatory defect, Epiphyseal deformities of tubular bones, Cervical subluxation, Me... |
OMIM:253000 |
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome |
|
Aplasia/Hypoplasia of fingers, Toe syndactyly, Broad hallux phalanx, Pectus carinatum, Abnormalit... |
ORPHA:3082 |
Dysosteosclerosis |
|
Broad femoral neck, Abnormal metaphyseal trabeculation, Diaphyseal thickening, Obstructive sleep ... |
OMIM:224300 |
Isolated Klippel-Feil Syndrome |
|
Abnormal vertebral segmentation and fusion, Cervical C2/C3 vertebral fusion, Sprengel anomaly, Ab... |
ORPHA:2345 |
Pulmonary Capillary Hemangiomatosis |
|
Hypoxemia, Pulmonary capillary hemangiomatosis, Centrilobular ground-glass opacification on pulmo... |
ORPHA:199241 |
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy |
|
Tibial bowing, Short finger, Metaphyseal widening, Metaphyseal irregularity, Hypoplastic inferior... |
OMIM:608940 |
Diffuse Alveolar Hemorrhage |
|
Hypoxemia, Irregular septal thickening on pulmonary HRCT, Ground-glass opacification, Cough, Pulm... |
ORPHA:90060 |
Congenital Lobar Emphysema |
|
Respiratory distress, Emphysema |
ORPHA:1928 |
Pneumocystosis |
|
Hypoxemia, Respiratory insufficiency, Interstitial pneumonitis, Exertional dyspnea, Combined cyst... |
ORPHA:723 |
Fanconi Renotubular Syndrome 5 |
|
Lung adenocarcinoma, Genu valgum, Pulmonary fibrosis, Decreased DLCO, Emphysema, Hypophosphatemic... |
OMIM:618913 |
Sternum, Premature Obliteration Of Sutures Of |
|
Short sternum, Premature sternal synostosis |
OMIM:184800 |
Ossification Anomalies-Psychomotor Developmental Delay Syndrome |
|
Triangular shaped distal phalanges of the hand, Abnormal diaphysis morphology, Recurrent aspirati... |
ORPHA:73230 |
Autosomal Recessive Spondylocostal Dysostosis |
|
Intrauterine growth retardation, Respiratory insufficiency, Rib segmentation abnormalities, Short... |
ORPHA:2311 |
Lethal Congenital Contracture Syndrome 5 |
|
Death in infancy, Respiratory insufficiency, Thin ribs, Flexion contracture, Congenital contracture |
OMIM:615368 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Tibial bowing, Fibular bowing, Thin bony cortex, Subperiosteal bone resorption, Bowing of the leg... |
OMIM:264700 |
Prune Belly Syndrome |
|
Pectus excavatum, Aplasia/Hypoplasia of the lungs, Congenital hip dislocation, Abnormal rib morph... |
ORPHA:2970 |
Severe Congenital Nemaline Myopathy |
|
Adducted thumb, Thin ribs, Multiple prenatal fractures, Abnormal thorax morphology, Arthrogryposi... |
ORPHA:171430 |
Acro-Renal-Mandibular Syndrome |
|
Intrauterine growth retardation, Thin ribs, Pectus carinatum, Hypoplastic scapulae, Abnormal lung... |
ORPHA:958 |
Microcephaly-Cervical Spine Fusion Anomalies Syndrome |
|
Pectus excavatum, Abnormal clavicle morphology, Fused cervical vertebrae, Abnormal rib morphology... |
ORPHA:2522 |
Multiple Synostoses Syndrome 1 |
|
Short lower limbs, 2-3 toe syndactyly, Cutaneous finger syndactyly, Lower limb undergrowth, Cubit... |
OMIM:186500 |
Short Rib-Polydactyly Syndrome |
|
Abnormal ilium morphology, Short ribs, Reduced bone mineral density, Syndactyly, Respiratory fail... |
ORPHA:1505 |
Mucopolysaccharidosis, Type Ivb |
|
Restrictive ventilatory defect, Epiphyseal deformities of tubular bones, Cervical subluxation, Me... |
OMIM:253010 |
Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Small epiphyses, Genu varum, Tibial bowing, Radial bowing, Flared iliac wing, Osteoarthritis, Uln... |
OMIM:602111 |
Sprengel Deformity |
|
Sprengel anomaly, Rib segmentation abnormalities |
OMIM:184400 |
Osteogenesis Imperfecta, Type Iii |
|
Decreased calvarial ossification, Tibial bowing, Thin ribs, Pulmonary arterial hypertension, Worm... |
OMIM:259420 |
Meier-Gorlin Syndrome 4 |
|
Patellar aplasia, Lateral clavicle hook, Intrauterine growth retardation, Genu recurvatum, Slende... |
OMIM:613804 |
Thoracic Outlet Syndrome |
|
Abnormal rib morphology |
ORPHA:97330 |
Acute Lung Injury |
|
Hypoxemia, Pneumonia, Tachypnea, Respiratory distress, Abnormal pulmonary interstitial morphology... |
ORPHA:178320 |
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome |
|
Abnormal sternum morphology, Pulmonary arterial hypertension, Short ribs, Respiratory distress, A... |
ORPHA:2519 |
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome |
|
Hypogonadism, Abnormality of the humeroulnar joint, Abnormal rib morphology, Decreased fertility |
ORPHA:2234 |
Renpenning Syndrome |
|
Pectus excavatum, Abnormal thumb morphology, Sprengel anomaly, Abnormal rib morphology, Joint sti... |
ORPHA:3242 |
Spondylocostal Dysostosis 5 |
|
Vertebral fusion, Pectus carinatum, Posterior rib fusion, Missing ribs, Supernumerary ribs |
OMIM:122600 |
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome |
|
Pectus carinatum, Hypogonadotropic hypogonadism, Craniofacial hyperostosis, Abnormal rib morpholo... |
ORPHA:3068 |
Diffuse Cutaneous Systemic Sclerosis |
|
Pulmonary arterial hypertension, Arthritis, Dyspareunia, Narrow foramen obturatorium, Pulmonary i... |
ORPHA:220393 |
Oculocerebrorenal Syndrome Of Lowe |
|
Death in infancy, Respiratory insufficiency, Atelectasis, Azoospermia, Abnormality of epiphysis m... |
ORPHA:534 |
Osteogenesis Imperfecta, Type Xv |
|
Joint hypermobility, Recurrent fractures, Bowing of limbs due to multiple fractures, Thin ribs |
OMIM:615220 |
Eosinophilia, Familial |
|
Pulmonary infiltrates, Recurrent bronchitis |
OMIM:131400 |
Vater-Like Defects With Pulmonary Hypertension, Laryngeal Webs, And Growth Deficiency |
|
Pectus excavatum, Intrauterine growth retardation, Posterior rib fusion, Pulmonary arterial hyper... |
OMIM:608406 |
Whim Syndrome |
|
Sinusitis, Pneumonia, Bronchiectasis, Respiratory tract infection, Recurrent upper respiratory tr... |
ORPHA:51636 |
X-Linked Hypophosphatemia |
|
Genu varum, Rickets, Reduced bone mineral density, Bowing of the legs, Generalized osteosclerosis... |
ORPHA:89936 |
Becker Nevus Syndrome |
|
Pectus excavatum, Pectus carinatum, Supernumerary ribs, Rib fusion, Abnormality of tibia morphology |
ORPHA:64755 |
Lethal Congenital Contracture Syndrome 10 |
|
Stiff neck, Intrauterine growth retardation, Adducted thumb, Narrow chest, Broad ribs, Overlappin... |
OMIM:617022 |
Radio-Renal Syndrome |
|
Abnormality of the elbow, Hypoplasia of the radius, Respiratory distress, Abnormal rib morphology... |
ORPHA:3015 |
Zygomycosis |
|
Sinusitis, Pneumothorax, Epistaxis, Rhinorrhea, Cough, Pulmonary infiltrates, Acute infectious pn... |
ORPHA:73263 |
Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Respiratory insufficiency, Respiratory insufficiency due to muscle weakness, Osteoporosis, Exerti... |
ORPHA:365 |
Nephronophthisis-Like Nephropathy 2 |
|
Recurrent respiratory infections, Pulmonary infiltrates, Cough, Bronchiectasis |
OMIM:619468 |
Frontometaphyseal Dysplasia 1 |
|
Increased density of long bone diaphyses, Long phalanx of finger, Ankle flexion contracture, Stri... |
OMIM:305620 |
Trisomy 13 |
|
Intrauterine growth retardation, Abnormal lung lobation, Narrow chest, Abnormal rib morphology, P... |
ORPHA:3378 |
Tularemia |
|
Pneumonia, Cough, Respiratory distress, Pulmonary infiltrates, Pleural effusion, Abnormal pulmona... |
ORPHA:3392 |
Laryngotracheoesophageal Cleft Type 4 |
|
Abnormal rib morphology, Respiratory insufficiency |
ORPHA:93941 |
Bare Lymphocyte Syndrome, Type I |
|
Recurrent bronchitis, Bronchiectasis, Chronic sinusitis, Bronchiolitis, Emphysema |
OMIM:604571 |
Osteogenesis Imperfecta, Type Vii |
|
Decreased calvarial ossification, Pectus excavatum, Death in infancy, Bowing of the legs, Multipl... |
OMIM:610682 |
Van Den Ende-Gupta Syndrome |
|
Hallux valgus, Pectus excavatum, Stridor, Thin ribs, Lateral clavicle hook, Glenoid fossa hypopla... |
OMIM:600920 |
Craniometadiaphyseal Dysplasia, Wormian Bone Type |
|
Abnormal diaphysis morphology, Thin bony cortex, Overtubulated long bones, Wormian bones, Osteope... |
ORPHA:85184 |
Opsismodysplasia |
|
Metaphyseal cupping, Anterior rib cupping, Posterior rib cupping, Short foot, Narrow chest, Hypop... |
OMIM:258480 |
Antley-Bixler Syndrome |
|
Elbow ankylosis, Narrow pelvis bone, Craniosynostosis, Arachnodactyly, Narrow chest, Abnormal rib... |
ORPHA:83 |
Birt-Hogg-Dubé Syndrome |
|
Pneumothorax, Pulmonary sequestration, Emphysema |
ORPHA:122 |
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development |
|
Arthrogryposis multiplex congenita, Craniosynostosis, Thin ribs, Brachydactyly |
OMIM:618265 |
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type |
|
C1-C2 subluxation, Epiphyseal stippling, Long fibula, Short ribs, Hip subluxation, Restrictive ve... |
OMIM:271665 |
Campomelic Dysplasia |
|
Thoracic hypoplasia, Shortening of all phalanges of the toes, Shortening of all phalanges of fing... |
OMIM:114290 |
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome |
|
Sprengel anomaly, Abnormal rib morphology, Brachydactyly, Sandal gap |
ORPHA:2180 |
Mucopolysaccharidosis Type 4 |
|
Pectus carinatum, Abnormality of epiphysis morphology, Bowing of the long bones, Short thorax, Ab... |
ORPHA:582 |
Avian Influenza |
|
Productive cough, Hypoxemia, Pneumonia, Tachypnea, Pneumothorax, Ground-glass opacification, Spon... |
ORPHA:454836 |
Eiken Syndrome |
|
Broad metatarsal, Broad femoral neck, Delayed tarsal ossification, Short middle phalanx of finger... |
OMIM:600002 |
Three M Syndrome 2 |
|
Intrauterine growth retardation, Thin ribs, Pectus carinatum, Prominent calcaneus, Short thorax, ... |
OMIM:612921 |
Osteogenesis Imperfecta, Type Xviii |
|
Thin bony cortex, Thin ribs, Bowing of the long bones, Joint laxity, Wormian bones, Joint hypermo... |
OMIM:617952 |
Mucopolysaccharidosis, Type Iiia |
|
Joint stiffness, Thickened ribs, Dense calvaria, Recurrent upper respiratory tract infections |
OMIM:252900 |
Campomelia, Cumming Type |
|
Death in infancy, Bowing of the long bones, Abnormal thorax morphology, Abnormal rib morphology, ... |
ORPHA:1318 |
Cenani-Lenz Syndrome |
|
Toe syndactyly, Oligodactyly, Synostosis of carpal bones, Hypoplasia of the radius, Finger syndac... |
ORPHA:3258 |
Hypocalcemic Vitamin D-Dependent Rickets |
|
Genu varum, Tibial bowing, Thin bony cortex, Subperiosteal bone resorption, Deformed rib cage, En... |
ORPHA:289157 |
Immunodeficiency 27A |
|
Pneumonia, Hypoplasia of the femoral head, Salmonella osteomyelitis, Pulmonary infiltrates, Abnor... |
OMIM:209950 |
Lujo Hemorrhagic Fever |
|
Stiff neck, Crackles, Rhinitis, Respiratory distress, Nonproductive cough, Atelectasis |
ORPHA:319213 |
Meier-Gorlin Syndrome 1 |
|
Cutaneous finger syndactyly, Genu varum, Short ribs, Joint contracture of the hand, Camptodactyly... |
OMIM:224690 |
Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Cone-shaped epiphysis, Respiratory insufficiency, Abnormal scapula morphology, Long fibula, Short... |
ORPHA:93317 |
Septopreoptic Holoprosencephaly |
|
Abnormal rib morphology |
ORPHA:280195 |
Tetraamelia-Multiple Malformations Syndrome |
|
Aplasia/Hypoplasia of the lungs, Abnormal lung lobation, Missing ribs, Aplasia/Hypoplasia involvi... |
ORPHA:3301 |
Cole-Carpenter Syndrome |
|
Intrauterine growth retardation, Bowing of the long bones, Wormian bones, Abnormality of the meta... |
ORPHA:2050 |
Kbg Syndrome |
|
Vertebral fusion, Radial deviation of finger, Cervical ribs, Syndactyly, Thoracic kyphosis, Rib f... |
OMIM:148050 |
22Q11.2 Deletion Syndrome |
|
Chronic pulmonary obstruction, Intrauterine growth retardation, Atelectasis, Abnormal lung lobati... |
ORPHA:567 |
Pyknoachondrogenesis |
|
Poorly ossified vertebrae, Horizontal ribs, Abnormal intramembranous ossification, Short iliac bo... |
ORPHA:3003 |
Mucolipidosis Iii Alpha/Beta |
|
Soft tissue swelling of interphalangeal joints, Irregular carpal bones, Craniosynostosis, Short r... |
OMIM:252600 |
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion |
|
Thoracic hypoplasia, Pectus excavatum, Intrauterine growth retardation, Coat hanger sign of ribs,... |
ORPHA:254528 |
X-Linked Myotubular Myopathy-Abnormal Genitalia Syndrome |
|
Joint hypermobility, Thin ribs, Respiratory insufficiency |
ORPHA:456328 |
Kagami-Ogata Syndrome |
|
Long clavicles, Thin ribs, Long fingers, Pulmonary arterial hypertension, Bell-shaped thorax, Fle... |
OMIM:608149 |
Mucopolysaccharidosis Type 6 |
|
Sinusitis, Epiphyseal dysplasia, Abnormality of the metaphysis, Genu valgum, Recurrent upper resp... |
ORPHA:583 |
Cutis Laxa, Autosomal Recessive, Type Ia |
|
Pectus excavatum, Arachnodactyly, Recurrent respiratory infections, Emphysema, Joint laxity |
OMIM:219100 |
Otopalatodigital Syndrome Type 2 |
|
Fibular aplasia, Tarsal synostosis, Pulmonary hypoplasia, Abnormal vertebral segmentation and fus... |
ORPHA:90652 |
Xylt1-Cdg |
|
Short clavicles, Broad thumb, Joint dislocation, Short femoral neck, Coxa valga, Broad ribs, Flar... |
ORPHA:370930 |
Craniometadiaphyseal Dysplasia |
|
Genu varum, Broad long bones, Sclerosis of skull base, Cubitus valgus, Wormian bones, Genu valgum... |
OMIM:269300 |
Anti-Glomerular Basement Membrane Disease |
|
Pulmonary infiltrates, Cough, Arthritis, Respiratory insufficiency |
ORPHA:375 |
Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Decreased calvarial ossification, Long thorax, Horizontal ribs, Lateral clavicle hook, Pulmonary ... |
OMIM:617925 |
Mucopolysaccharidosis, Type Vi |
|
Hypoplastic iliac wing, Metaphyseal widening, Hypoplastic acetabulae, Metaphyseal irregularity, E... |
OMIM:253200 |
Adult Acute Respiratory Distress Syndrome |
|
Hypoxemia, Pneumonia, Abnormal blood gas level, Pulmonary edema, Pulmonary infiltrates, Respirato... |
ORPHA:70578 |
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Horizontal ribs, Respiratory insufficiency, Postaxial polydactyly, Short ribs, Preaxial polydacty... |
OMIM:616300 |
Fusariosis |
|
Sinusitis, Productive cough, Lung abscess, Pneumonia, Bronchiectasis, Ground-glass opacification,... |
ORPHA:228119 |
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Thoracic hypoplasia, Horizontal ribs, Absent tibia, Lateral clavicle hook, Cone-shaped epiphysis,... |
OMIM:613091 |
Multiple Pterygium Syndrome, Escobar Variant |
|
Dysplastic patella, Long clavicles, Popliteal pterygium, Intercrural pterygium, Patellar aplasia,... |
OMIM:265000 |
Axial Mesodermal Dysplasia Spectrum |
|
Aplasia/Hypoplasia of the lungs, Abnormality of the knee, Missing ribs, Abnormal rib morphology, ... |
ORPHA:1834 |
Keutel Syndrome |
|
Sinusitis, Costal cartilage calcification, Peripheral pulmonary artery stenosis, Epiphyseal stipp... |
OMIM:245150 |
Osteogenesis Imperfecta, Type Viii |
|
Tibial bowing, Radial bowing, Thin ribs, Wormian bones, Multiple prenatal fractures, Osteopenia, ... |
OMIM:610915 |
Rhizomelic Dysplasia, Scoliosis, And Retinitis Pigmentosa |
|
Short clavicles, Prominent deltoid tuberosities, Short ribs, Short humerus, Broad ribs, Short fem... |
OMIM:610319 |
Kyphomelic Dysplasia |
|
Flat acetabular roof, Thoracic hypoplasia, Anterior rib cupping, Tibial bowing, Radial bowing, La... |
OMIM:211350 |
Alpha-1-Antitrypsin Deficiency |
|
Emphysema |
ORPHA:60 |
Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Metaphyseal irregularity, Long fibula, Short ribs, Cupped ribs, 11 pairs of ribs, Iliac crest ser... |
OMIM:250220 |
Osteogenesis Imperfecta, Type Xvi |
|
Beaded ribs, Joint hypermobility, Osteopenia |
OMIM:616229 |
Osteogenesis Imperfecta, Type X |
|
Thin ribs, Bowing of the long bones, Generalized joint laxity, Chronic lung disease, Genu valgum,... |
OMIM:613848 |
Brachytelephalangic Chondrodysplasia Punctata |
|
C1-C2 subluxation, Central apnea, Neonatal respiratory distress, Epiphyseal stippling, Short dist... |
ORPHA:79345 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Bronchiectasis, Recurrent bronchopulmonary infections, Recurrent pneumonia, Emphysema, Metaphysea... |
OMIM:242700 |
Fibrous Dysplasia Of Bone |
|
Abnormality of the ulna, Abnormality of femur morphology, Thin bony cortex, Rickets, Fibrous dysp... |
ORPHA:249 |
Mucopolysaccharidosis, Type Iiib |
|
Joint stiffness, Thickened ribs, Dense calvaria, Recurrent upper respiratory tract infections |
OMIM:252920 |
Cole-Carpenter Syndrome 2 |
|
Pectus excavatum, Thin ribs, Wormian bones, Osteopenia, Narrow iliac wing, Coronal craniosynostos... |
OMIM:616294 |
Ellis-Van Creveld Syndrome |
|
Horizontal ribs, Pectus carinatum, Capitate-hamate fusion, Hypoplastic iliac wing, Short ribs, Ge... |
OMIM:225500 |
Autosomal Recessive Multiple Pterygium Syndrome |
|
Pectus excavatum, Popliteal pterygium, Pterygium, Intrauterine growth retardation, Neonatal respi... |
ORPHA:2990 |
Congenital Tracheomalacia |
|
Wheezing, Neonatal respiratory distress, Apnea, Decreased peak expiratory flow, Emphysema, Respir... |
ORPHA:95430 |
Cartilage-Hair Hypoplasia |
|
Metaphyseal dysplasia, Short thorax, Limited elbow extension, Abnormality of pelvic girdle bone m... |
ORPHA:175 |
Gaucher Disease, Type I |
|
Epistaxis, Pulmonary arterial hypertension, Pathologic fracture, Pulmonary infiltrates, Abnormal ... |
OMIM:230800 |
Spondylometaphyseal Dysplasia, Algerian Type |
|
Metaphyseal dysplasia, Anterior rib cupping, Short greater sciatic notch, Flared femoral metaphys... |
OMIM:184253 |
Dextrocardia |
|
Abnormal pulmonary situs morphology, Abnormal lung lobation, Congenital hip dislocation, Abnormal... |
ORPHA:1666 |
Cardiospondylocarpofacial Syndrome |
|
Tarsal synostosis, Cone-shaped epiphysis, Fused cervical vertebrae, Pseudoepiphyses, Carpal synos... |
OMIM:157800 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Tachypnea, Respiratory insufficiency, Atelectasis |
OMIM:618278 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures |
|
Hallux valgus, Epiphyseal dysplasia, Cupped ribs, Pathologic fracture, 11 pairs of ribs, Hip subl... |
OMIM:271640 |
Shwachman-Diamond Syndrome 1 |
|
Irregular ossification at anterior rib ends, Proximal femoral metaphyseal irregularity, Anterior ... |
OMIM:260400 |
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Oligospermia, Metacarpal synostosis, Cubitus valgus, Limited elbow extension, Camptodactyly, Femo... |
ORPHA:95699 |
Hypocomplementemic Urticarial Vasculitis |
|
Joint dislocation, Arthritis, Cough, Restrictive ventilatory defect, Dyspnea, Airway obstruction,... |
ORPHA:36412 |
Oculocerebrocutaneous Syndrome |
|
Missing ribs, Congenital hip dislocation, Finger syndactyly, Abnormal rib morphology, Short dista... |
ORPHA:1647 |
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Upper limb undergrowth, Epiphyseal stippling, Prominent calcaneus, Short ribs, Short 1st metacarp... |
ORPHA:96334 |
Poland Syndrome |
|
Abnormality of the ulna, Aplasia/Hypoplasia of the thumb, Abnormal sternum morphology, Asymmetry ... |
ORPHA:2911 |
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Absent tibia, Short metatarsal, Proximal placement of thumb, Hypoplasia of the radius, Shallow ac... |
OMIM:609945 |
Acrorenal-Mandibular Syndrome |
|
Toe syndactyly, Intrauterine growth retardation, Thin ribs, Hypoplastic scapulae, Missing ribs, H... |
OMIM:200980 |
Hurler Syndrome |
|
Death in infancy, Abnormality of the elbow, Abnormality of epiphysis morphology, Rhinitis, Abnorm... |
ORPHA:93473 |
Autosomal Dominant Centronuclear Myopathy |
|
Neonatal asphyxia, Respiratory insufficiency due to muscle weakness, Spontaneous abortion, Thin ribs |
ORPHA:169189 |
Cutis Laxa, Autosomal Dominant 1 |
|
Emphysema |
OMIM:123700 |
Schwartz-Jampel Syndrome |
|
Death in infancy, Hip contracture, Apnea, Protrusio acetabuli, Increased bone mineral density, Ab... |
ORPHA:800 |
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Horizontal ribs, Lateral clavicle hook, Pectus carinatum, Polysyndactyly of hallux, Pulmonary hyp... |
OMIM:263520 |
Mucopolysaccharidosis, Type Iiic |
|
Joint stiffness, Thickened ribs, Dense calvaria, Recurrent upper respiratory tract infections |
OMIM:252930 |
Relapsing Polychondritis |
|
Abnormal pattern of respiration, Cough, Arthritis, Limitation of joint mobility, Dyspnea, Atelect... |
ORPHA:728 |
Osteogenesis Imperfecta |
|
Neonatal respiratory distress, Protrusio acetabuli, Femoral bowing, Abnormality of tibia morpholo... |
ORPHA:666 |
Immunodeficiency 60 And Autoimmunity |
|
Recurrent sinopulmonary infections, Pulmonary infiltrates, Pulmonary fibrosis, Bronchiectasis |
OMIM:618394 |
Shprintzen-Goldberg Craniosynostosis Syndrome |
|
Metatarsus adductus, Pectus excavatum, Thin ribs, Pectus carinatum, Lateral clavicle hook, Metaph... |
OMIM:182212 |
Ulbright-Hodes Syndrome |
|
Fibular aplasia, Severe intrauterine growth retardation, Abnormal forearm bone morphology, Thin r... |
ORPHA:3404 |
Berry Aneurysm, Cirrhosis, Pulmonary Emphysema, And Cerebral Calcification |
|
Emphysema |
OMIM:210050 |
Osteopetrosis, Autosomal Recessive 7 |
|
Death in infancy, Multiple rib fractures, Osteopetrosis, Abnormal trabecular bone morphology, Fem... |
OMIM:612301 |
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Hypoplastic ilia, Bowing of the legs, Ivory epiphyses, Abnormality of epiphysis morphology, Bowin... |
ORPHA:85167 |
Cystic Echinococcosis |
|
Bone cyst, Multiple pulmonary cysts, Asthma, Pulmonary cyst, Abnormal subpleural morphology, Abno... |
ORPHA:400 |
Loeys-Dietz Syndrome 4 |
|
Abnormal sternum morphology, Pneumothorax, Arachnodactyly, Protrusio acetabuli, Emphysema, Joint ... |
OMIM:614816 |
Autosomal Recessive Malignant Osteopetrosis |
|
Abnormality of epiphysis morphology, Chronic rhinitis, Bowing of the long bones, Craniosynostosis... |
ORPHA:667 |
Sclerosteosis 1 |
|
Sclerotic scapulae, Deviation of finger, Broad ribs, Facial palsy secondary to cranial hyperostos... |
OMIM:269500 |
Vacterl/Vater Association |
|
Aplasia/Hypoplasia of the lungs, Intrauterine growth retardation, Aplasia/Hypoplasia of the radiu... |
ORPHA:887 |
Epidermodysplasia Verruciformis, Susceptibility To, 4 |
|
Emphysema |
OMIM:618307 |
Familial Osteodysplasia, Anderson Type |
|
Bifid femur, Increased susceptibility to fractures, Aplastic clavicle, Missing ribs, Abnormal cor... |
ORPHA:2769 |
Occipital Horn Syndrome |
|
Pectus excavatum, Short clavicles, Pectus carinatum, Capitate-hamate fusion, Osteoporosis, Limite... |
OMIM:304150 |
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
|
Thin ribs, Vertebral fusion, Block vertebrae, Missing ribs, Short ribs, Rib fusion, Pulmonary hyp... |
OMIM:271520 |
Ellis Van Creveld Syndrome |
|
Aplasia/Hypoplasia of the lungs, Intrauterine growth retardation, Capitate-hamate fusion, Cubitus... |
ORPHA:289 |
Spondyloepimetaphyseal Dysplasia, X-Linked |
|
Metaphyseal irregularity, Long fibula, Limited elbow extension, Short phalanx of finger, Short lo... |
OMIM:300106 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Diaphyseal thickening, Proximal symphalangism of hands, Intrauterine growth retardation, Elbow fl... |
OMIM:151050 |
Chand Syndrome |
|
Short fifth metatarsal, Atelectasis |
ORPHA:1401 |
Hypereosinophilic Syndrome, Idiopathic |
|
Pulmonary infiltrates |
OMIM:607685 |
Sarcoidosis, Susceptibility To, 1 |
|
Hypoxemia, Bone cyst, Bronchiectasis, Pulmonary arterial hypertension, Arthritis, Elevated bronch... |
OMIM:181000 |
Alagille Syndrome |
|
Intrauterine growth retardation, Peripheral pulmonary artery stenosis, Abnormal rib morphology, S... |
ORPHA:52 |
Mucopolysaccharidosis, Type Iiid |
|
Joint stiffness, Thickened ribs, Flexion contracture, Recurrent upper respiratory tract infections |
OMIM:252940 |
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures |
|
Thin ribs, Flexion contracture |
OMIM:614833 |
Immunodeficiency 89 And Autoimmunity |
|
Bronchiectasis, Recurrent lower respiratory tract infections, Pleural thickening, Asthma, Pulmona... |
OMIM:619632 |
Kniest-Like Dysplasia, Lethal |
|
Metaphyseal irregularity, Short ribs, Short diaphyses, Narrow chest, Broad ribs, Dumbbell-shaped ... |
OMIM:245190 |
Majeed Syndrome |
|
Synovitis, Increased susceptibility to fractures, Metaphyseal irregularity, Cough, Osteomyelitis,... |
ORPHA:77297 |
Fetal Akinesia Deformation Sequence 1 |
|
Thoracic hypoplasia, Elbow ankylosis, Thin ribs, Rocker bottom foot, Intrauterine growth retardat... |
OMIM:208150 |
Pallister-Hall Syndrome |
|
Toe syndactyly, Intrauterine growth retardation, Mesoaxial hand polydactyly, Oligodactyly, Abnorm... |
OMIM:146510 |
Myhre Syndrome |
|
Intrauterine growth retardation, Abnormality of epiphysis morphology, Abnormality of the metaphys... |
ORPHA:2588 |
Ear-Patella-Short Stature Syndrome |
|
Patellar aplasia, Intrauterine growth retardation, Abnormality of epiphysis morphology, Craniosyn... |
ORPHA:2554 |
Legionnaires Disease |
|
Restrictive ventilatory defect, Respiratory insufficiency, Cough, Pulmonary infiltrates, Abnormal... |
ORPHA:549 |
Multiple Pterygium-Malignant Hyperthermia Syndrome |
|
Metatarsus adductus, Pectus excavatum, Tapered finger, Ulnar deviation of finger, Arachnodactyly,... |
ORPHA:2215 |
Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
|
Aplasia/Hypoplasia of the phalanges of the toes, Decreased calvarial ossification, Phocomelia, Ap... |
OMIM:276820 |
Granulomatosis With Polyangiitis |
|
Sinusitis, Hemosiderin-laden macrophages in bronchoalveolar fluid, Respiratory insufficiency, Ele... |
OMIM:608710 |
Gm1-Gangliosidosis, Type I |
|
Joint stiffness, Thickened ribs, Death in infancy, Intrauterine growth retardation |
OMIM:230500 |
Ehlers-Danlos Syndrome, Vascular Type |
|
Pectus excavatum, Foot acroosteolysis, Pneumothorax, Pulmonary bleb, Pulmonary bulla, Recurrent i... |
OMIM:130050 |
Hypertrichotic Osteochondrodysplasia, Cantu Type |
|
Short hallux, Broad hallux phalanx, Osteoporosis, Abnormality of the metaphysis, Finger syndactyl... |
ORPHA:1517 |
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome |
|
Pectus excavatum, Thin ribs, Arachnodactyly, Osteopenia, Joint hypermobility, Thin metatarsal cor... |
ORPHA:2463 |
Nestor-Guillermo Progeria Syndrome |
|
Thin ribs, Delayed closure of the anterior fontanelle, Osteoporosis, Pulmonary arterial hypertens... |
OMIM:614008 |
Gracile Bone Dysplasia |
|
Thin ribs, Decreased skull ossification, Slender long bone, Flared metaphysis, Brachydactyly |
OMIM:602361 |
Autosomal Recessive Cutis Laxa Type 1 |
|
Intrauterine growth retardation, Respiratory insufficiency, Peripheral pulmonary artery stenosis,... |
ORPHA:90349 |
Neonatal Marfan Syndrome |
|
Hypoxemia, Neonatal respiratory distress, Adducted thumb, Pectus carinatum, Long fingers, Arachno... |
ORPHA:284979 |
Pagod Syndrome |
|
Death in infancy, Abnormal clavicle morphology, Pulmonary artery hypoplasia, Abnormality of the p... |
ORPHA:991 |
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation |
|
Thoracic hypoplasia, Coat hanger sign of ribs |
ORPHA:254534 |
Mosaic Trisomy 8 |
|
Patellar aplasia, Narrow pelvis bone, Arthrogryposis multiplex congenita, Narrow chest, Abnormal ... |
ORPHA:96061 |
Craniofaciofrontodigital Syndrome |
|
Pectus excavatum, Cubitus valgus, Joint hypermobility, Broad ribs, Hypoplastic pelvis |
OMIM:114620 |
Microphthalmia, Syndromic 3 |
|
Vertebral fusion, Hypogonadotropic hypogonadism, Missing ribs, Supernumerary ribs, Rib fusion |
OMIM:206900 |
Basal Cell Nevus Syndrome |
|
Irregular ossification of hand bones, Polydactyly, Bifid ribs, Vertebral fusion, Abnormal sternum... |
OMIM:109400 |
Autosomal Dominant Popliteal Pterygium Syndrome |
|
Toe syndactyly, Popliteal pterygium, Split hand, Finger syndactyly, Abnormal rib morphology, Join... |
ORPHA:1300 |
Mucopolysaccharidosis Type 3 |
|
Obstructive sleep apnea, Recurrent sinopulmonary infections, Avascular necrosis of the capital fe... |
ORPHA:581 |
Eosinophilic Granulomatosis With Polyangiitis |
|
Sinusitis, Respiratory insufficiency, Arthritis, Recurrent intrapulmonary hemorrhage, Cough, Pulm... |
ORPHA:183 |
Coccidioidomycosis |
|
Broad metatarsal, Abnormal sperm morphology, Pneumonia, Abnormality of long bone morphology, Arth... |
ORPHA:228123 |
Hallermann-Streiff Syndrome |
|
Pectus excavatum, Decreased number of sternal ossification centers, Thin ribs, Obstructive sleep ... |
OMIM:234100 |
Trisomy 1Q |
|
Toe syndactyly, Short thorax, Arachnodactyly, Abnormal rib morphology, Camptodactyly of finger, P... |
ORPHA:261344 |
Cerebrocostomandibular Syndrome |
|
Death in infancy, Intrauterine growth retardation, Neonatal respiratory distress, Posterior rib g... |
ORPHA:1393 |
Craniorachischisis |
|
Bifid sternum |
ORPHA:63260 |
Osteopathia Striata With Cranial Sclerosis |
|
Fibular aplasia, Pectus excavatum, Flexion contracture of toe, Delayed closure of the anterior fo... |
OMIM:300373 |
Short-Rib Thoracic Dysplasia 15 With Polydactyly |
|
Horizontal ribs, Short clavicles, Short ribs, Respiratory distress, Narrow chest, Postaxial hand ... |
OMIM:617088 |
Cerebrocostomandibular Syndrome |
|
Thoracic hypoplasia, Neonatal respiratory distress, Elbow flexion contracture, Congenital hip dis... |
OMIM:117650 |
Alpha-Mannosidosis, Infantile Form |
|
Cortical thickening of long bone diaphyses, Pectus excavatum, Thickened ribs, Pectus carinatum, P... |
ORPHA:309282 |
Schinzel-Giedion Midface Retraction Syndrome |
|
Long clavicles, Tibial bowing, Aplasia/Hypoplasia of the pubic bone, Metopic suture patent to nas... |
OMIM:269150 |
Goodpasture Syndrome |
|
Hemosiderin-laden macrophages in bronchoalveolar fluid, Restrictive ventilatory defect, Bloody br... |
OMIM:233450 |
Cerebrofaciothoracic Dysplasia |
|
Sprengel anomaly, Narrow chest, Bifid ribs, Rib fusion |
ORPHA:1394 |
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1 |
|
Thin ribs, Respiratory insufficiency, Osteoporosis, Joint dislocation, Arachnodactyly, Congenital... |
OMIM:225400 |
Cutis Laxa, Autosomal Recessive, Type Ic |
|
Pulmonary hypoplasia, Sandal gap, Emphysema, Pulmonary artery stenosis, Tracheomalacia, Joint laxity |
OMIM:613177 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Pectus excavatum, Intrauterine growth retardation, Thin bony cortex, Respiratory insufficiency, R... |
OMIM:613658 |
Pontine Tegmental Cap Dysplasia |
|
Aspiration, Ankle clonus, Rib fusion |
OMIM:614688 |
Robinow Syndrome, Autosomal Recessive 1 |
|
Pectus excavatum, Vertebral fusion, Duplication of the distal phalanx of hand, Broad toe, Missing... |
OMIM:268310 |
Absence Of The Pulmonary Artery |
|
Hypocapnia, Bronchiectasis, Pulmonary arterial hypertension, Pulmonary edema, Recurrent pneumonia... |
ORPHA:980 |
Netherton Syndrome |
|
Recurrent respiratory infections, Emphysema, Asthma |
ORPHA:634 |
Fryns Syndrome |
|
Thoracic hypoplasia, Thin ribs, Rocker bottom foot, Proximal placement of thumb, Stillbirth, Join... |
OMIM:229850 |
Kagami-Ogata Syndrome |
|
Thoracic hypoplasia, Coat hanger sign of ribs, Bell-shaped thorax, Limitation of joint mobility, ... |
ORPHA:254519 |
Meier-Gorlin Syndrome 6 |
|
Short middle phalanx of finger, Patellar aplasia, Tracheobronchomalacia, Sandal gap, Hip dysplasi... |
OMIM:616835 |
Marfan Syndrome |
|
Arthralgia/arthritis, Pectus excavatum, Pulmonary artery dilatation, Pectus carinatum, Osteoporos... |
ORPHA:558 |
Autosomal Recessive Robinow Syndrome |
|
Broad hallux phalanx, Toe syndactyly, Pectus excavatum, Death in infancy, Pectus carinatum, Synos... |
ORPHA:1507 |
Graft Versus Host Disease |
|
Pneumonia, Arthritis, Dupuytren contracture, Pulmonary infiltrates, Limited shoulder movement, St... |
ORPHA:39812 |
Camptodactyly Syndrome, Guadalajara Type 3 |
|
Thickened cortex of long bones, Small hand, Osteopenia, Short foot, Abnormal rib morphology, Broa... |
ORPHA:488434 |
Myhre Syndrome |
|
2-3 toe syndactyly, Intrauterine growth retardation, Cone-shaped epiphysis, Vertebral fusion, Hyp... |
OMIM:139210 |
Marfan Syndrome |
|
Metatarsus adductus, Pectus excavatum, Pulmonary artery dilatation, Pectus carinatum, Hammertoe, ... |
OMIM:154700 |
Mandibuloacral Dysplasia Progeroid Syndrome |
|
Pectus excavatum, Thin ribs, Decreased fibular diameter, Dysplasia of the femoral head, Sandal ga... |
OMIM:619127 |
Spondylocostal Dysostosis-Anal Atresia-Genitourinary Malformation Syndrome |
|
Intrauterine growth retardation, Vertebral fusion, 11 pairs of ribs, Narrow chest, Rib fusion |
ORPHA:94095 |
Trisomy 18 |
|
Intrauterine growth retardation, Narrow pelvis bone, Deviation of finger, Abnormal rib morphology... |
ORPHA:3380 |
Wolf-Hirschhorn Syndrome |
|
Aplasia/Hypoplasia of the lungs, Intrauterine growth retardation, Rib segmentation abnormalities,... |
ORPHA:280 |
Weill-Marchesani Syndrome 1 |
|
Broad metatarsal, Thin bony cortex, Broad phalanges of the hand, Joint stiffness, Broad ribs, Bra... |
OMIM:277600 |
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome |
|
Tapered finger, Tapered toe, Asthma, Rib fusion, Clinodactyly of the 5th finger |
ORPHA:544488 |
Cutis Laxa, Autosomal Recessive, Type Ib |
|
Pulmonary artery aneurysm, Pectus excavatum, Pulmonary artery dilatation, Arachnodactyly, Joint h... |
OMIM:614437 |
Aicardi Syndrome |
|
Bifid ribs, Block vertebrae, Missing ribs, Proximal placement of thumb, Supernumerary ribs, Recur... |
OMIM:304050 |
Monosomy 9Q22.3 |
|
Pectus excavatum, Metopic synostosis, Polydactyly, Abnormal rib morphology, Joint hyperflexibility |
ORPHA:77301 |
Idiopathic Hypereosinophilic Syndrome |
|
Ankle swelling, Myelofibrosis, Arthritis, Clubbing, Cough, Respiratory distress, Swelling of prox... |
ORPHA:3260 |
Proximal 16P11.2 Microdeletion Syndrome |
|
Rib fusion, Craniosynostosis, Hand polydactyly |
ORPHA:261197 |
Smith-Lemli-Opitz Syndrome |
|
2-3 toe syndactyly, Intrauterine growth retardation, Abnormal lung lobation, Ulnar deviation of f... |
ORPHA:818 |
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Recurrent respiratory infections, Pulmonary infiltrates, Pulmonary interstitial lymphocyte infilt... |
OMIM:606367 |
Simpson-Golabi-Behmel Syndrome |
|
Toe syndactyly, Pectus excavatum, Death in infancy, Vertebral fusion, Congenital hip dislocation,... |
ORPHA:373 |
Autosomal Dominant Cutis Laxa |
|
Intrauterine growth retardation, Adducted thumb, Peripheral pulmonary artery stenosis, Bronchiect... |
ORPHA:90348 |
Common Variable Immunodeficiency |
|
Pneumonia, Recurrent bronchitis, Bronchiectasis, Restrictive ventilatory defect, Recurrent respir... |
ORPHA:1572 |
Coffin-Lowry Syndrome |
|
Pectus excavatum, Pectus carinatum, Tapered finger, Delayed closure of the anterior fontanelle, B... |
OMIM:303600 |
Femoral-Facial Syndrome |
|
Toe syndactyly, Rib fusion, Limited shoulder movement, Hypoplastic acetabulae, Short fifth metata... |
OMIM:134780 |
Baller-Gerold Syndrome |
|
Aplasia of metacarpal bones, Rib fusion, Lambdoidal craniosynostosis, Limited shoulder movement, ... |
OMIM:218600 |
Schinzel-Giedion Syndrome |
|
Tibial bowing, Streak ovary, Abnormal clavicle morphology, Wormian bones, Abnormal thorax morphol... |
ORPHA:798 |
Nocardiosis |
|
Productive cough, Pneumonia, Pneumothorax, Pleuritis, Osteomyelitis, Respiratory distress, Nonpro... |
ORPHA:31204 |
Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Dyspnea, Pulmonary infiltrates, Cough, Interstitial pneumonitis |
ORPHA:139402 |
Weill-Marchesani Syndrome 2 |
|
Broad metatarsal, Thin bony cortex, Flexion contracture of toe, Short finger, Elbow flexion contr... |
OMIM:608328 |
Primary Sjögren Syndrome |
|
Lymphocytic interstitial pneumonia, Polyarticular arthropathy, Arthritis, Abnormal pulmonary inte... |
ORPHA:289390 |
Aicardi Syndrome |
|
Bifid ribs, Block vertebrae, Small hand, Missing ribs, Hip dysplasia, Supernumerary ribs, Rib fusion |
ORPHA:50 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Long clavicles, Intrauterine growth retardation, Thin ribs, Arachnodactyly, Fused cervical verteb... |
ORPHA:83617 |
Restrictive Dermopathy |
|
Thoracic kyphoscoliosis, Increased anterioposterior diameter of thorax, Thin clavicles, Intrauter... |
ORPHA:1662 |
Granulomatosis With Polyangiitis |
|
Sinusitis, Chronic pulmonary obstruction, Respiratory insufficiency, Prostatitis, Pleuritis, Epis... |
ORPHA:900 |
Sea-Blue Histiocytosis |
|
Pulmonary infiltrates |
ORPHA:158029 |
Hereditary Acrokeratotic Poikiloderma |
|
Finger syndactyly, Joint hyperflexibility, Abnormal rib morphology, Camptodactyly of finger, Abno... |
ORPHA:2907 |
Craniofacial Dysmorphism, Skeletal Anomalies, And Mental Retardation Syndrome |
|
Bifid ribs, Craniosynostosis, Joint hypermobility, Narrow chest, Postaxial hand polydactyly, Rib ... |
OMIM:213980 |
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies |
|
Tapered finger, Genu valgum, Hip dislocation, Hip dysplasia, Limited elbow extension, Broad ribs,... |
OMIM:301066 |
Cranioectodermal Dysplasia 2 |
|
Pectus excavatum, Horizontal ribs, Polydactyly, Metopic synostosis, Craniosynostosis, Short ribs,... |
OMIM:613610 |
Griscelli Syndrome Type 2 |
|
Pulmonary infiltrates |
ORPHA:79477 |
Cocaine Intoxication |
|
Wheezing, Tachypnea, Pneumothorax, Cough, Respiratory distress, Pulmonary edema, Pulmonary infilt... |
ORPHA:90068 |
Zttk Syndrome |
|
Intrauterine growth retardation, Craniosynostosis, Small hand, Joint hypermobility, Unilateral lu... |
OMIM:617140 |
Vexas Syndrome |
|
Pulmonary infiltrates, Arthritis |
OMIM:301054 |
Mucopolysaccharidosis Type 2, Severe Form |
|
Restrictive ventilatory defect, Thickened ribs, Diaphyseal thickening, Arthritis, Upper airway ob... |
ORPHA:217085 |
Mucopolysaccharidosis Type 2, Attenuated Form |
|
Restrictive ventilatory defect, Thickened ribs, Diaphyseal thickening, Arthritis, Upper airway ob... |
ORPHA:217093 |
Waldenström Macroglobulinemia |
|
Epistaxis, Pulmonary infiltrates, Pleural effusion, Respiratory insufficiency |
ORPHA:33226 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Intrauterine growth retardation, Metopic synostosis, Hyperextensible hand joints, Arachnodactyly,... |
ORPHA:500150 |
Fabry Disease |
|
Chronic pulmonary obstruction, Abnormality of femur morphology, Respiratory insufficiency, Arthri... |
ORPHA:324 |
Cog1-Cdg |
|
Pulmonary arterial hypertension, Osteopenia, Posterior rib gap, Rib fusion, Coxa valga, Short lon... |
ORPHA:263508 |
Charge Syndrome |
|
Bifid femur, Intrauterine growth retardation, Respiratory insufficiency, Abnormality of bone mine... |
ORPHA:138 |
Wiedemann-Rautenstrauch Syndrome |
|
Intrauterine growth retardation, Thin ribs, Delayed closure of the anterior fontanelle, Long fing... |
OMIM:264090 |
Kindler Epidermolysis Bullosa |
|
Short 5th metacarpal, Finger syndactyly, Abnormal rib morphology, Camptodactyly of finger, Flexio... |
ORPHA:2908 |
Monosomy 9P |
|
Proximal placement of thumb, Abnormality of the tarsal bones, Abnormal rib morphology, Limitation... |
ORPHA:261112 |
Osteopetrosis With Renal Tubular Acidosis |
|
Pectus excavatum, Obstructive sleep apnea, Prominent floating ribs, Osteopetrosis, Pulmonary arte... |
ORPHA:2785 |
Letterer-Siwe Disease |
|
Dyspnea, Pulmonary infiltrates |
OMIM:246400 |
Pallister-Hall Syndrome |
|
Distal arthrogryposis, Polydactyly affecting the 4th finger, Broad toe, Recurrent upper and lower... |
ORPHA:672 |
Chronic Graft Versus Host Disease |
|
Bronchiolitis obliterans, Wheezing, Bronchiectasis, Pneumothorax, Arthritis, Cough, Pulmonary inf... |
ORPHA:99921 |
Cystic Fibrosis With Helicobacter Pylori Gastritis, Megaloblastic Anemia, And Mental Retardation |
|
Recurrent bronchopulmonary infections, Infertility, Emphysema, Recurrent pneumonia |
OMIM:219721 |
Sarcoidosis |
|
Bone cyst, Bronchiectasis, Pneumothorax, Cough, Upper airway obstruction, Pulmonary fibrosis, Abn... |
ORPHA:797 |
Behçet Disease |
|
Pleuritis, Arthritis, Pulmonary infiltrates, Pulmonary embolism, Orchitis, Pleural effusion |
ORPHA:117 |
Wolf-Hirschhorn Syndrome |
|
Metatarsus adductus, Intrauterine growth retardation, Vertebral fusion, Abnormal sternal ossifica... |
OMIM:194190 |
Robinow Syndrome |
|
Bifid distal phalanx of the thumb, Missing ribs, Radioulnar dislocation, Syndactyly, Short distal... |
ORPHA:97360 |
1P36 Deletion Syndrome |
|
Bifid ribs, Foot polydactyly, 11 pairs of ribs, Short foot, Hip dysplasia, Hypogonadism, Camptoda... |
ORPHA:1606 |
Autoimmune Lymphoproliferative Syndrome |
|
Pulmonary infiltrates, Arthritis, Pulmonary fibrosis, Premature ovarian insufficiency |
ORPHA:3261 |
Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Emphysema, Abnormality of the pulmonary artery |
ORPHA:363618 |
Viss Syndrome |
|
Pulmonary artery aneurysm, Pectus excavatum, Rocker bottom foot, Pectus carinatum, Pneumothorax, ... |
OMIM:619472 |
Townes-Brocks Syndrome |
|
Broad hallux phalanx, Toe syndactyly, Triphalangeal thumb, Aplasia/Hypoplasia of the 3rd toe, Bro... |
ORPHA:857 |
Malt Lymphoma |
|
Recurrent respiratory infections, Pulmonary infiltrates |
ORPHA:52417 |
Chromosome 1P36 Deletion Syndrome, Distal |
|
Metatarsus adductus, Bifid ribs, Abnormal lung lobation, Delayed closure of the anterior fontanel... |
OMIM:607872 |
Niemann-Pick Disease Type C |
|
Respiratory insufficiency, Pulmonary infiltrates, Abnormal lung morphology, Respiratory failure, ... |
ORPHA:646 |
Carney Triad |
|
Pulmonary infiltrates |
ORPHA:139411 |