Venous Malformations, Multiple Cutaneous And Mucosal |
|
Venous malformation |
OMIM:600195 |
Spondylocostal Dysostosis 2, Autosomal Recessive |
|
Short neck, Vertebral clefting, Rib fusion, Hemivertebrae, Vertebral segmentation defect |
OMIM:608681 |
Spondylocostal Dysostosis 3, Autosomal Recessive |
|
Contracture of the proximal interphalangeal joint of the 2nd finger, Kyphosis, Hypoplasia of the ... |
OMIM:609813 |
Spondylocostal Dysostosis 1, Autosomal Recessive |
|
Back pain, Vertebral fusion, Death in infancy, Block vertebrae, Abnormal odontoid process morphol... |
OMIM:277300 |
Spondylocostal Dysostosis 5 |
|
Vertebral fusion, Low back pain, Missing ribs, Short neck, Hemivertebrae, Pectus carinatum, Poste... |
OMIM:122600 |
Autosomal Dominant Spondylocostal Dysostosis |
|
Short neck, Missing ribs, Hyperlordosis, Abnormal sacrum morphology, Short thorax, Abnormal rib m... |
ORPHA:1797 |
Aneurysm Of Interventricular Septum |
|
Abnormal ventricular septum morphology, Vascular dilatation |
OMIM:105805 |
Poland Syndrome |
|
Unilateral absence of pectoralis major muscle, Unilateral hypoplasia of pectoralis major muscle, ... |
OMIM:173800 |
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome |
|
Abnormality of the elbow, Abnormal rib morphology, Pectus carinatum, Radioulnar synostosis, Scoli... |
ORPHA:3268 |
Emphysema, Congenital Lobar |
|
Respiratory distress |
OMIM:130710 |
Becker Nevus Syndrome |
|
Pectus excavatum, Kyphosis, Rib fusion, Pectus carinatum, Supernumerary ribs, Scoliosis, Spina bi... |
ORPHA:64755 |
Heart Defects-Limb Shortening Syndrome |
|
Death in infancy, Kyphosis, Abnormal rib morphology, Abnormal form of the vertebral bodies, Narro... |
ORPHA:1354 |
Endosteal Hyperostosis, Worth Type |
|
Sclerotic vertebral body, Facial palsy, Abnormal rib morphology, Abnormal form of the vertebral b... |
ORPHA:2790 |
Spondylocostal Dysostosis 4, Autosomal Recessive |
|
Vertebral fusion, Abnormal odontoid process morphology, Block vertebrae, Missing ribs, Pectus exc... |
OMIM:613686 |
Hypomyelination Neuropathy-Arthrogryposis Syndrome |
|
Respiratory distress |
ORPHA:2680 |
Tricuspid Atresia |
|
Atrial septal defect, Ventricular septal defect, Patent foramen ovale, Hypoplasia of right ventri... |
ORPHA:1209 |
Von Willebrand Disease |
|
Venous insufficiency, Abnormal mitral valve morphology |
ORPHA:903 |
Brachyolmia, Maroteaux Type |
|
Pectus excavatum, Short thorax, Abnormal form of the vertebral bodies, Platyspondyly, Scoliosis |
ORPHA:93302 |
Autosomal Recessive Spondylocostal Dysostosis |
|
Rib segmentation abnormalities, Abnormal intervertebral disk morphology, Camptodactyly of finger,... |
ORPHA:2311 |
Muscular Hypertonia, Lethal |
|
Respiratory distress, Death in infancy, Pneumonia |
OMIM:254120 |
Primary Basilar Invagination |
|
Abnormality of the cervical spine, Abnormal vertebral morphology, Short neck |
ORPHA:2285 |
Sprengel Deformity |
|
Rib segmentation abnormalities, Cervical segmentation defect, Hemivertebrae, Scoliosis, Sprengel ... |
OMIM:184400 |
Isolated Klippel-Feil Syndrome |
|
Spina bifida, Short neck, Abnormal sacrum morphology, Abnormal rib morphology, Abnormal shoulder ... |
ORPHA:2345 |
Femoral-Facial Syndrome |
|
Abnormal sacrum morphology, Rib fusion, Abnormal rib morphology, Vertebral segmentation defect, R... |
ORPHA:1988 |
Kyphomelic Dysplasia |
|
Anterior rib cupping, Missing ribs, Lateral clavicle hook, Short thorax, Undulate ribs, Abnormal ... |
ORPHA:1801 |
Galactosialidosis |
|
Abnormality of the vertebral column, Abnormal vertebral morphology |
ORPHA:351 |
Autosomal Dominant Brachyolmia |
|
Increased vertebral height, Platyspondyly, Short thorax, Kyphoscoliosis |
ORPHA:93304 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3 |
|
Vertebral fusion, Death in infancy, Bicuspid aortic valve, Unilateral renal agenesis, Patent duct... |
OMIM:618845 |
Varicose Veins |
|
Varicose veins |
OMIM:192200 |
Acromesomelic Dysplasia, Maroteaux Type |
|
Ovoid vertebral bodies, Hyperlordosis, Kyphosis, Abnormal form of the vertebral bodies, Sprengel ... |
ORPHA:40 |
Neurogenic Thoracic Outlet Syndrome |
|
Abnormal rib morphology |
ORPHA:100073 |
Humero-Radio-Ulnar Synostosis |
|
Radioulnar synostosis, Abnormality of the ureter, Elbow ankylosis, Abnormality of the upper urina... |
ORPHA:3266 |
Prune Belly Syndrome |
|
Multicystic kidney dysplasia, Recurrent urinary tract infections, Ventricular septal defect, Rena... |
ORPHA:2970 |
Stuve-Wiedemann Syndrome 2 |
|
Respiratory distress, Death in adolescence, Stillbirth, Scoliosis, Camptodactyly, Neonatal death,... |
OMIM:619751 |
Spondyloepiphyseal Dysplasia Tarda, Kohn Type |
|
Abnormality of the knee, Platyspondyly, Abnormal vertebral morphology, Abnormality of the ankle |
ORPHA:163665 |
Isolated Congenital Hypoglossia/Aglossia |
|
Respiratory distress, Dyspnea, Upper airway obstruction, Aspiration pneumonia |
ORPHA:141152 |
Congenital Myopathy 10A, Severe Variant |
|
Respiratory distress, Facial palsy, Camptodactyly of finger, Pectus excavatum, Increased variabil... |
OMIM:614399 |
Diaphanospondylodysostosis |
|
Respiratory distress, Missing ribs, Short thorax, Enlarged thorax, Multiple renal cysts, Absent o... |
ORPHA:66637 |
Developmental And Epileptic Encephalopathy 30 |
|
Respiratory distress, Death in infancy |
OMIM:616341 |
Pontine Tegmental Cap Dysplasia |
|
Facial palsy, Rib fusion, Hemivertebrae, Ankle clonus, Scoliosis |
OMIM:614688 |
Succinic Acidemia |
|
Respiratory distress |
OMIM:600335 |
Metatropic Dysplasia |
|
Abnormal intervertebral disk morphology, Camptodactyly of finger, Kyphosis, Abnormal rib morpholo... |
ORPHA:2635 |
Osteoarthritis With Mild Chondrodysplasia |
|
Heberden's node, Knee osteoarthritis, Schmorl's node, Irregular vertebral endplates, Platyspondyl... |
OMIM:604864 |
Cerebrofaciothoracic Dysplasia |
|
Short neck, Rib fusion, Hemivertebrae, Vertebral segmentation defect, Narrow chest, Bifid ribs, S... |
ORPHA:1394 |
Spondylometaphyseal Dysplasia, A4 Type |
|
Platyspondyly, Flared, irregular rib ends |
ORPHA:168555 |
Spondylometaphyseal Dysplasia, Axial |
|
Anterior rib cupping, Optic atrophy, Platyspondyly, Narrow chest, Scoliosis, Thoracic hypoplasia |
OMIM:602271 |
Laryngotracheal Angioma |
|
Respiratory distress, Intercostal retractions, Apnea, Wheezing, Stridor, Cough |
ORPHA:137935 |
Pomt1-Related Limb-Girdle Muscular Dystrophy R11 |
|
Respiratory distress, Lumbar hyperlordosis, Centrally nucleated skeletal muscle fibers, Cough, Li... |
ORPHA:86812 |
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
|
Vertebral fusion, Block vertebrae, Short neck, Missing ribs, Rib fusion, Hemivertebrae, Thin ribs... |
OMIM:271520 |
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature |
|
Varicose veins, Patent ductus arteriosus, Peripheral arterial stenosis, Ventricular septal defect |
OMIM:126320 |
Acropectorovertebral Dysplasia |
|
Capitate-hamate fusion, Abnormal thorax morphology, Spina bifida occulta at S1, Spina bifida occu... |
OMIM:102510 |
Spondylometaphyseal Dysplasia, Type A4 |
|
Ovoid vertebral bodies, Enlargement of the costochondral junction, Flat acetabular roof, Pectus c... |
OMIM:609052 |
Congenital Lobar Emphysema |
|
Respiratory distress, Emphysema |
ORPHA:1928 |
Neurogenic Arthrogryposis Multiplex Congenita |
|
Respiratory distress, Skeletal muscle atrophy, Hip contracture, Lower limb muscle weakness, Ankle... |
ORPHA:1143 |
Bronchopulmonary Dysplasia |
|
Respiratory distress, Central apnea, Respiratory failure requiring assisted ventilation, Dyspnea,... |
ORPHA:70589 |
Osteomesopyknosis |
|
Kyphosis, Sclerotic vertebral body, Scoliosis, Abnormal form of the vertebral bodies |
ORPHA:2777 |
Osteogenesis Imperfecta, Type Ix |
|
Beaded ribs, Pectus excavatum, Kyphosis, Pectus carinatum, Platyspondyly, Scoliosis, Wormian bones |
OMIM:259440 |
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies |
|
Superior rib anomalies, Abnormality of the cervical spine |
OMIM:307500 |
Thoracolaryngopelvic Dysplasia |
|
Irregular chondrocostal junctions, Bell-shaped thorax, Irregular vertebral endplates, Short ribs,... |
OMIM:187760 |
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2 |
|
Vertebral segmentation defect, Abnormal rib morphology, Short neck |
ORPHA:2578 |
Mesomelic Dysplasia, Kantaputra Type |
|
Camptodactyly of finger, Tarsal synostosis, Abnormal rib morphology, Vertebral segmentation defec... |
ORPHA:1836 |
Vein Of Galen Aneurysmal Malformation |
|
Vascular dilatation, Peripheral arteriovenous fistula, Abnormal cerebral vascular morphology |
ORPHA:1053 |
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome |
|
Respiratory distress |
ORPHA:171703 |
Kuskokwim Syndrome |
|
Abnormal clavicle morphology, Scoliosis, Abnormal form of the vertebral bodies, Aplasia/Hypoplasi... |
ORPHA:1149 |
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome |
|
Abnormal rib morphology |
ORPHA:2435 |
Immunodeficiency 95 |
|
Respiratory distress, Respiratory failure, Recurrent viral pneumonia |
OMIM:619773 |
Severe Acute Respiratory Syndrome |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Dyspnea, Hypoxemia, Acu... |
ORPHA:140896 |
Proximal 16P11.2 Microdeletion Syndrome |
|
Multicystic kidney dysplasia, Dextrocardia, Congenital diaphragmatic hernia, Craniosynostosis, Ri... |
ORPHA:261197 |
Cardiomyopathy, Dilated, 1Gg |
|
Respiratory distress, Dilated cardiomyopathy, Left ventricular noncompaction |
OMIM:613642 |
Infantile-Onset X-Linked Spinal Muscular Atrophy |
|
Respiratory distress, Skeletal muscle atrophy, Hip contracture, Interphalangeal joint contracture... |
ORPHA:1145 |
Respiratory Distress Syndrome In Premature Infants |
|
Respiratory distress, Dyspnea, Neonatal respiratory distress, Tachypnea |
OMIM:267450 |
Laryngomalacia |
|
Respiratory distress, Congenital laryngeal stridor |
OMIM:150280 |
Heterotaxy, Visceral, 4, Autosomal |
|
Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, Dextrotransposit... |
OMIM:613751 |
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome |
|
Short neck, Abnormal rib morphology, Hemivertebrae, Abnormal form of the vertebral bodies, Abnorm... |
ORPHA:2234 |
Congenital Heart Defects, Multiple Types, 3 |
|
Atrial septal defect, Tetralogy of Fallot, Persistent left superior vena cava, Abnormal heart mor... |
OMIM:614954 |
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly |
|
Death in infancy, Lateral clavicle hook, Trident acetabulum, Narrow chest, Short ribs, Acetabular... |
OMIM:617405 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3 |
|
Short neck, Multiple joint dislocation, Hip dislocation, Thin ribs, Irregular vertebral endplates... |
OMIM:618395 |
Fetal Akinesia Deformation Sequence 4 |
|
11 pairs of ribs, Short neck, Kyphosis, Prenatal death, Neonatal death |
OMIM:618393 |
Becker Nevus Syndrome |
|
Pectus excavatum, Cervical ribs, Hemivertebrae, Scoliosis |
OMIM:604919 |
Atrial Septal Defect 8 |
|
Atrial septal defect, Anomalous pulmonary venous return |
OMIM:614433 |
Perching Syndrome |
|
Respiratory distress, Joint contracture, Scoliosis, Camptodactyly |
OMIM:617055 |
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked |
|
Respiratory distress, Facial palsy, Respiratory insufficiency due to muscle weakness, Dilated car... |
OMIM:300580 |
Multiple Pterygium Syndrome, Escobar Variant |
|
Short neck, Knee flexion contracture, Intercrural pterygium, Pterygium, Dislocated radial head, T... |
OMIM:265000 |
Lower Limb Malformation-Hypospadias Syndrome |
|
Abnormality of the ureter, Hypospadias, Respiratory insufficiency |
ORPHA:2487 |
Bardet-Biedl Syndrome 16 |
|
Respiratory distress, Renal insufficiency, Renal agenesis, Stage 5 chronic kidney disease, Renal ... |
OMIM:615993 |
Autosomal Recessive Multiple Pterygium Syndrome |
|
Skeletal muscle atrophy, Hypoplasia of penis, Neonatal respiratory distress, Camptodactyly of fin... |
ORPHA:2990 |
Myasthenic Syndrome, Congenital, 6, Presynaptic |
|
Respiratory distress, Respiratory insufficiency due to muscle weakness, Sudden episodic apnea, Ap... |
OMIM:254210 |
Metatropic Dysplasia |
|
Relatively short spine, Enlarged joints, Kyphoscoliosis, Clavicular pseudarthrosis, Cupped ribs, ... |
OMIM:156530 |
Congenital Disorder Of Glycosylation, Type Iig |
|
Thoracic scoliosis, Kyphoscoliosis, Short neck, Rib fusion, Posterior rib gap, Vertebral segmenta... |
OMIM:611209 |
Axial Spondylometaphyseal Dysplasia |
|
Aplasia/Hypoplasia of the ribs, Thoracic scoliosis, Aplasia/Hypoplasia of the vertebrae, Flaring ... |
ORPHA:168549 |
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy |
|
Respiratory distress, Distal amyotrophy, Kyphoscoliosis |
OMIM:619099 |
Microcephaly-Cervical Spine Fusion Anomalies Syndrome |
|
Abnormal clavicle morphology, Hypospadias, Hyperlordosis, Pectus excavatum, Kyphosis, Abnormality... |
ORPHA:2522 |
Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Lumbar hyperlordosis, Hypoplastic sacrum, Enlargement of the costochondral junction, Osteoarthrit... |
OMIM:271650 |
Septopreoptic Holoprosencephaly |
|
Abnormal rib morphology, Abnormal vertebral morphology, Ethmoidal encephalocele |
ORPHA:280195 |
Microphthalmia, Syndromic 3 |
|
Optic nerve aplasia, Vertebral fusion, Optic nerve hypoplasia, Missing ribs, Rib fusion, Hemivert... |
OMIM:206900 |
Myotonia With Skeletal Abnormalities And Mental Retardation |
|
Kyphoscoliosis, Vertebral wedging, Genu valgum, Bell-shaped thorax, Pectus carinatum |
OMIM:255710 |
Multiple Epiphyseal Dysplasia Type 5 |
|
Back pain, Osteoarthritis of the small joints of the hand, Abnormal acetabulum morphology, Multip... |
ORPHA:93311 |
Bronchiolitis Obliterans With Obstructive Pulmonary Disease |
|
Pneumonia, Reduced forced expiratory volume in one second, Reduced forced vital capacity, Dyspnea... |
ORPHA:1303 |
Hereditary Pulmonary Alveolar Proteinosis |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Crackles, Tachypnea, Ac... |
ORPHA:264675 |
Chronic Pneumonitis Of Infancy |
|
Respiratory distress, Intercostal retractions, Reduced forced vital capacity, Tachypnea, Hypoxemi... |
ORPHA:91359 |
Recurrent Respiratory Papillomatosis |
|
Respiratory distress, Nonproductive cough, Wheezing, Tachypnea, Dyspnea, Upper airway obstruction... |
ORPHA:60032 |
Penoscrotal Transposition |
|
Renal agenesis, Hypospadias, Abnormality of the urethra, Penoscrotal transposition, Patellar apla... |
ORPHA:2842 |
Myasthenic Syndrome, Congenital, 4A, Slow-Channel |
|
Respiratory distress, Respiratory insufficiency due to muscle weakness, Sudden episodic apnea, Ap... |
OMIM:605809 |
Aorta Coarctation |
|
Pseudocoarctation of the aorta, Bicuspid aortic valve, Cardiomegaly, Patent ductus arteriosus, Hy... |
ORPHA:1457 |
Osteogenesis Imperfecta, Type Xv |
|
Platyspondyly, Scoliosis, Thin ribs |
OMIM:615220 |
Interstitial Pneumonitis, Desquamative, Familial |
|
Respiratory distress, Tachypnea, Cor pulmonale, Respiratory failure, Cough, Tubulointerstitial fi... |
OMIM:263000 |
Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Osteoarthritis, Abnormal joint morphology, Abnormal rib morphology, Abnormal carpal morphology, P... |
ORPHA:93351 |
Acrodysplasia Scoliosis |
|
Vertebral segmentation defect, Spina bifida occulta, Scoliosis |
ORPHA:2956 |
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Abnormal clavicle morphology, Short neck, Abnormal rib morphology, Platyspondyly, Narrow chest |
ORPHA:93267 |
Craniodiaphyseal Dysplasia |
|
Optic atrophy, Abnormal rib morphology |
ORPHA:1513 |
Pleural Mesothelioma |
|
Respiratory distress, Dyspnea, Abnormal respiratory system physiology, Cough, Pleural effusion |
ORPHA:50251 |
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness |
|
Lumbar hyperlordosis, Cupped ribs, Flat acetabular roof, Irregular vertebral endplates, Platyspon... |
OMIM:609616 |
Heterotaxy, Visceral, 7, Autosomal |
|
Atrial septal defect, Dextrocardia, Mitral atresia, Situs inversus totalis, Common atrium, Hypopl... |
OMIM:616749 |
Pallister-Hall Syndrome |
|
Renal dysplasia, Hydroureter, Ventricular septal defect, Distal urethral duplication, Ectopic kid... |
OMIM:146510 |
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome |
|
Respiratory distress, Ventricular septal defect, Patent ductus arteriosus, Abnormal rib morpholog... |
ORPHA:2519 |
Short Chain Acyl-Coa Dehydrogenase Deficiency |
|
Respiratory distress, Cardiomyopathy, Myopathy, Ethylmalonic aciduria, Increased level of methyls... |
ORPHA:26792 |
Aicardi Syndrome |
|
Block vertebrae, Spina bifida, Missing ribs, Optic disc coloboma, Rib fusion, Optic atrophy, Hemi... |
OMIM:304050 |
Cryptogenic Organizing Pneumonia |
|
Respiratory distress, Bronchial breath sound, Crackles, Nonproductive cough, Dyspnea, Wheezing, P... |
ORPHA:1302 |
Lethal Osteosclerotic Bone Dysplasia |
|
Respiratory distress, Dyspnea, Respiratory failure, Delayed cranial suture closure |
ORPHA:1832 |
Aicardi Syndrome |
|
Block vertebrae, Missing ribs, Optic disc coloboma, Rib fusion, Optic atrophy, Supernumerary ribs... |
ORPHA:50 |
Ciliary Dyskinesia, Primary, 47, And Lissencephaly |
|
Respiratory distress, Bronchiectasis, Abnormal mucociliary clearance |
OMIM:619466 |
Capillary Malformation Of The Lower Lip, Lymphatic Malformation Of Face And Neck, Asymmetry Of Face And Limbs, And Partial/Generalized Overgrowth |
|
Varicose veins, Venous malformation |
OMIM:613089 |
Severe X-Linked Mitochondrial Encephalomyopathy |
|
Respiratory distress, Respiratory insufficiency |
ORPHA:238329 |
Thanatophoric Dysplasia, Type Ii |
|
Small abnormally formed scapulae, Wide-cupped costochondral junctions, Platyspondyly, Short ribs,... |
OMIM:187601 |
Fibrochondrogenesis 2 |
|
Cupped ribs, Bell-shaped thorax, Platyspondyly, Short ribs, Thoracic hypoplasia |
OMIM:614524 |
Lethal Congenital Contracture Syndrome Type 1 |
|
Abnormality of the elbow, Abnormal rib morphology, Abnormal form of the vertebral bodies, Short neck |
ORPHA:1486 |
Schneckenbecken Dysplasia |
|
Hypoplastic scapulae, Anterior rib cupping, Ovoid vertebral bodies, Short neck, Lateral clavicle ... |
OMIM:269250 |
Odontochondrodysplasia 1 |
|
Respiratory distress, Death in infancy, Biconvex vertebral bodies, Genu recurvatum, Flat acetabul... |
OMIM:184260 |
Severe Hereditary Thrombophilia Due To Congenital Protein C Deficiency |
|
Venous insufficiency, Abnormal cerebral vascular morphology |
ORPHA:745 |
Congenital Disorder Of Glycosylation, Type Iy |
|
Joint dislocation, Hypospadias, Respiratory distress, Scoliosis |
OMIM:300934 |
Jeune Syndrome |
|
Abnormal clavicle morphology, Renal insufficiency, Short thorax, Abnormal rib morphology, Respira... |
ORPHA:474 |
Myotubular Myopathy With Abnormal Genital Development |
|
Respiratory distress, Death in infancy, Hypospadias, Centrally nucleated skeletal muscle fibers, ... |
OMIM:300219 |
Familial Nasal Acilia |
|
Respiratory distress, Dyspnea, Bronchiectasis, Chronic rhinitis, Chronic sinusitis |
ORPHA:922 |
Mosaic Trisomy 14 |
|
Camptodactyly of finger, Abnormal rib morphology, Narrow chest, Short neck |
ORPHA:1703 |
Juberg-Hayward Syndrome |
|
Abnormality of the elbow, Abnormal rib morphology, Radioulnar synostosis, Scoliosis, Abnormality ... |
ORPHA:2319 |
Mitochondrial Dna Depletion Syndrome, Myopathic Form |
|
Respiratory distress, Skeletal muscle atrophy, Spinal muscular atrophy, Respiratory insufficiency... |
ORPHA:254875 |
Ring Chromosome 8 Syndrome |
|
Abnormality of the ureter, Hydronephrosis |
ORPHA:1450 |
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome |
|
Abnormal rib morphology, Hemivertebrae, Abnormal form of the vertebral bodies, Scoliosis, Sprenge... |
ORPHA:2180 |
Holt-Oram Syndrome |
|
Abnormal clavicle morphology, Ventricular septal defect, Down-sloping shoulders, Pectus excavatum... |
ORPHA:392 |
Klippel-Feil Syndrome 1, Autosomal Dominant |
|
Short neck, Abnormal rib morphology, Scoliosis, Cervical C2/C3 vertebral fusion, Sprengel anomaly... |
OMIM:118100 |
Laryngotracheoesophageal Cleft Type 4 |
|
Abnormal rib morphology, Abnormal form of the vertebral bodies |
ORPHA:93941 |
Congenital Laryngeal Web |
|
Respiratory distress, Stridor |
ORPHA:2374 |
Lethal Congenital Contracture Syndrome 1 |
|
Neonatal death, Abnormal thorax morphology, Widening of cervical spinal canal |
OMIM:253310 |
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly |
|
Lateral clavicle hook, Respiratory insufficiency, Bell-shaped thorax, Nephrocalcinosis, Thoracic ... |
OMIM:615633 |
Lethal Recessive Chondrodysplasia |
|
Respiratory distress, Macroglossia, Narrow chest, Flared elbow metaphyses |
ORPHA:1423 |
Atrial Septal Defect 1 |
|
Tetralogy of Fallot with pulmonary atresia, Bicuspid aortic valve, Ventricular septal defect, Sec... |
OMIM:108800 |
Myopathy And Diabetes Mellitus |
|
Distal lower limb amyotrophy, Respiratory distress, Achilles tendon contracture, Proximal amyotro... |
ORPHA:2596 |
Gaucher Disease Type 2 |
|
Respiratory distress, Abnormal pattern of respiration, Cough |
ORPHA:77260 |
White Forelock With Malformations |
|
Sprengel anomaly, Spina bifida occulta, Abnormal rib morphology |
ORPHA:2475 |
Pulmonary Non-Tuberculous Mycobacterial Infection |
|
Respiratory distress, Crackles, Dyspnea, Chronic pulmonary obstruction, Pneumothorax, Bronchiecta... |
ORPHA:411703 |
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1 |
|
Beaking of vertebral bodies, Vertebral fusion, Sacral dimple, Craniosynostosis, Short neck, Pectu... |
OMIM:213980 |
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6 |
|
Respiratory distress, Skeletal muscle atrophy, Paradoxical respiration, Plantar flexion contractu... |
OMIM:620011 |
Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome |
|
Sacral dimple, Tarsal synostosis, Abnormal form of the vertebral bodies, Posterior fusion of lumb... |
ORPHA:2064 |
Gjc2-Related Late-Onset Primary Lymphedema |
|
Venous insufficiency, Varicose veins, Hypoplasia of lymphatic vessels, Abnormal lymphatic vessel ... |
ORPHA:568051 |
Odontochondrodysplasia |
|
Respiratory distress, Death in infancy, Patent ductus arteriosus, Platyspondyly, Narrow chest, Sc... |
ORPHA:166272 |
Diastrophic Dysplasia |
|
Joint dislocation, Abnormal clavicle morphology, Camptodactyly of finger, Elbow dislocation, Kyph... |
ORPHA:628 |
Kbg Syndrome |
|
Vertebral fusion, Short neck, Rib fusion, Vertebral arch anomaly, Cervical ribs, Thoracic kyphosis |
OMIM:148050 |
Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Enlarged joints, Kyphoscoliosis, Short neck, Hypoplasia of the odontoid process, Elbow flexion co... |
OMIM:184252 |
Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures |
|
Respiratory distress, Joint contracture, Kyphoscoliosis |
OMIM:617977 |
Scimitar Syndrome |
|
Pulmonary artery hypoplasia, Atrial septal defect, Single ventricle, Patent ductus arteriosus, Pa... |
ORPHA:185 |
Mucopolysaccharidosis, Type Iva |
|
Ulnar deviation of the wrist, Ovoid vertebral bodies, Short neck, Hyperlordosis, Hypoplasia of th... |
OMIM:253000 |
Ciliary Dyskinesia, Primary, 40 |
|
Situs inversus totalis, Patent ductus arteriosus, Right aortic arch, Interrupted inferior vena ca... |
OMIM:618300 |
Imperforate Oropharynx-Costovertebral Anomalies Syndrome |
|
Respiratory distress, Missing ribs, Dyspnea, Abnormal rib morphology, Hemivertebrae, Abnormal for... |
ORPHA:2759 |
Fibrochondrogenesis |
|
Hypoplastic scapulae, Camptodactyly of finger, Short neck, Wide anterior fontanel, Abnormal rib m... |
ORPHA:2021 |
10Q22.3Q23.3 Microduplication Syndrome |
|
Abnormal clavicle morphology, Tetralogy of Fallot, Abnormal rib morphology, Hypospadias |
ORPHA:276422 |
Craniodiaphyseal Dysplasia, Autosomal Dominant |
|
Papilledema, Thickened ribs, Optic atrophy, Death in adolescence, Facial diplegia |
OMIM:122860 |
Mucopolysaccharidosis, Type X |
|
Irregular acetabular roof, Spatulate ribs, Hyperlordosis, Broad clavicles, Genu valgum, Platyspon... |
OMIM:619698 |
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type |
|
Lumbar hyperlordosis, Ovoid vertebral bodies, Pectus excavatum, Limited elbow extension, Flat ace... |
OMIM:608728 |
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
|
Death in infancy, Bicuspid aortic valve, Congenital diaphragmatic hernia, Patent ductus arteriosu... |
ORPHA:1120 |
Axial Mesodermal Dysplasia Spectrum |
|
Abnormality of the knee, Congenital diaphragmatic hernia, Renal hypoplasia/aplasia, Missing ribs,... |
ORPHA:1834 |
Autosomal Recessive Robinow Syndrome |
|
Death in infancy, Hypoplasia of penis, Multicystic kidney dysplasia, Ventricular septal defect, A... |
ORPHA:1507 |
Alkaptonuria |
|
Arthropathy, Vertebral fusion, Mitral valve calcification, Aortic valve calcification, Kyphosis, ... |
OMIM:203500 |
Trisomy 13 |
|
Ventricular septal defect, Kyphosis, Patent ductus arteriosus, Abnormal rib morphology, Abnormali... |
ORPHA:3378 |
Caudal Regression Syndrome |
|
Ureteral duplication, Decreased muscle mass, Renal insufficiency, Renal agenesis, Ectopic kidney,... |
ORPHA:3027 |
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome |
|
Respiratory distress, Myopathy, Hypertrophic cardiomyopathy |
ORPHA:91130 |
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Bicuspid aortic valve, Parachute mitral valve, Posterior rib fusion, Atrial septal defect, Neonat... |
OMIM:265380 |
Spondyloepimetaphyseal Dysplasia, Strudwick Type |
|
Anterior rib cupping, Hyperlordosis, Hypoplasia of the odontoid process, Pectus carinatum, Genu v... |
OMIM:184250 |
Congenital Heart Defects, Multiple Types, 6 |
|
Ventricular septal defect, Hypoplastic pulmonary veins, Secundum atrial septal defect, Complete a... |
OMIM:613854 |
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Respiratory distress, Ventricular septal defect, Thoracic hypoplasia, Lateral clavicle hook, Resp... |
OMIM:617895 |
Achondrogenesis Type 1B |
|
Short neck, Short thorax, Abnormal rib morphology, Narrow chest, Umbilical hernia |
ORPHA:93298 |
Melnick-Needles Syndrome |
|
Delayed cranial suture closure, Short thorax, Abnormal rib morphology, Hip dislocation, Respirato... |
ORPHA:2484 |
Robinow Syndrome, Autosomal Recessive 1 |
|
Vertebral fusion, Hypoplastic sacrum, Thoracolumbar scoliosis, Short neck, Pectus excavatum, Miss... |
OMIM:268310 |
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Ragged-red muscle fiber... |
ORPHA:254864 |
Cog1-Cdg |
|
Irregularity of vertebral bodies, Kyphoscoliosis, Short neck, Rib fusion, Posterior rib gap, Flat... |
ORPHA:263508 |
Sillence Syndrome |
|
Back pain, Flat acetabular roof, Platyspondyly, Scoliosis, Abnormal vertebral morphology, Interve... |
ORPHA:3168 |
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type |
|
Disc-like vertebral bodies, Ovoid vertebral bodies, Short neck, Flat acetabular roof, Thin ribs, ... |
OMIM:151210 |
Diaphanospondylodysostosis |
|
Delayed vertebral ossification, Respiratory distress, Absent in utero ossification of vertebral b... |
OMIM:608022 |
Coenzyme Q10 Deficiency, Primary, 8 |
|
Respiratory distress, Flexion contracture, Abnormal renal corticomedullary differentiation, Left ... |
OMIM:616733 |
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive |
|
Respiratory distress, Lymphocytic interstitial pneumonia |
OMIM:245590 |
Combined Oxidative Phosphorylation Deficiency 30 |
|
Left ventricular hypertrophy, Death in infancy, Respiratory distress |
OMIM:616974 |
Surfactant Metabolism Dysfunction, Pulmonary, 3 |
|
Respiratory distress, Death in infancy, Neonatal respiratory distress, Nonspecific interstitial p... |
OMIM:610921 |
Thoracic Outlet Syndrome |
|
Varicose veins |
ORPHA:97330 |
Femoral-Facial Syndrome |
|
Ventricular septal defect, Renal agenesis, Abnormal renal collecting system morphology, Missing r... |
OMIM:134780 |
Phaver Syndrome |
|
Camptodactyly of finger, Myelomeningocele, Abnormal rib morphology, Abnormal form of the vertebra... |
ORPHA:2876 |
Mucopolysaccharidosis Type 4 |
|
Joint dislocation, Hyperlordosis, Short neck, Kyphosis, Short thorax, Abnormal rib morphology, Sp... |
ORPHA:582 |
Prune Belly Syndrome |
|
Hydroureter, Congenital hip dislocation, Pectus excavatum, Patent ductus arteriosus, Aplasia of t... |
OMIM:100100 |
Lethal Kniest-Like Dysplasia |
|
Anterior rib cupping, Short neck, Wide anterior fontanel, Abnormal cartilage morphology, Abnormal... |
ORPHA:2347 |
Radio-Renal Syndrome |
|
Respiratory distress, Multicystic kidney dysplasia, Renal agenesis, Renal hypoplasia/aplasia, Dys... |
ORPHA:3015 |
Congenital Disorder Of Glycosylation, Type Iu |
|
Respiratory distress, Death in infancy, Neonatal respiratory distress, Congenital contracture, Sc... |
OMIM:615042 |
Lethal Hemolytic Anemia-Genital Anomalies Syndrome |
|
Hypoplasia of penis, Hypospadias, Renal hypoplasia/aplasia, Abnormality of the ureter, Respirator... |
ORPHA:1046 |
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency |
|
Venous insufficiency, Abnormal cerebral vascular morphology |
ORPHA:743 |
Osteogenesis Imperfecta, Type X |
|
Respiratory distress, Multiple rib fractures, Thoracic scoliosis, Chronic lung disease, Recurrent... |
OMIM:613848 |
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy |
|
Ovoid vertebral bodies, Cupped ribs, Platyspondyly, Scoliosis, Severe platyspondyly |
OMIM:608940 |
Wolf-Hirschhorn Syndrome |
|
Rib segmentation abnormalities, Sacral dimple, Kyphosis, Abnormal thorax morphology, Optic atroph... |
ORPHA:280 |
Mucopolysaccharidosis-Plus Syndrome |
|
Respiratory distress, Proteinuria, Acetabular dysplasia, Pectus excavatum, Patent ductus arterios... |
OMIM:617303 |
Osteogenesis Imperfecta, Type Ii |
|
Beaded ribs, Thin ribs, Bell-shaped thorax, Platyspondyly, Wormian bones, Thoracic hypoplasia |
OMIM:166210 |
Fibrochondrogenesis 1 |
|
Hypoplastic scapulae, Long clavicles, Anterior rib cupping, Short neck, Widely patent sagittal su... |
OMIM:228520 |
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2 |
|
Respiratory distress, Respiratory insufficiency due to muscle weakness, Ragged-red muscle fibers,... |
OMIM:613561 |
Osteogenesis Imperfecta, Type Iii |
|
Protrusio acetabuli, Kyphosis, Wide anterior fontanel, Thin ribs, Scoliosis, Wormian bones, Bicon... |
OMIM:259420 |
Congenital Pulmonary Lymphangiectasia |
|
Respiratory distress, Chronic pulmonary obstruction, Chylopericardium, Pulmonic stenosis, Cough, ... |
ORPHA:2414 |
Shwachman-Diamond Syndrome 1 |
|
Myocardial necrosis, Respiratory distress, Neonatal respiratory distress, Anterior rib cupping, O... |
OMIM:260400 |
Dyggve-Melchior-Clausen Disease |
|
Glenoid fossa hypoplasia, Short neck, Horizontal inferior border of scapula, Hypoplasia of the od... |
ORPHA:239 |
Congenital Pseudoarthrosis Of The Clavicle |
|
Dextrocardia, Situs inversus totalis, Osteoarthritis, Cervical ribs, Congenital pseudoarthrosis o... |
ORPHA:66630 |
Robinow Syndrome |
|
Fused thoracic vertebrae, Multicystic kidney dysplasia, Ventricular septal defect, Kyphoscoliosis... |
ORPHA:97360 |
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies |
|
Sprengel anomaly, Abnormality of the vertebral column, Abnormal rib morphology |
OMIM:601076 |
Cooper-Jabs Syndrome |
|
Camptodactyly of finger, Missing ribs, Abnormal rib morphology, Scoliosis, Umbilical hernia |
ORPHA:1488 |
Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Irregular sclerotic endplates, Osteoarthritis, Platyspondyly, Flared, irregular rib ends, Pear-sh... |
OMIM:602111 |
Osteogenesis Imperfecta, Type Xviii |
|
Thin ribs, Biconcave vertebral bodies, Wormian bones, Umbilical hernia, Vertebral compression fra... |
OMIM:617952 |
Mucopolysaccharidosis, Type Iiia |
|
Umbilical hernia, Thickened ribs, Ovoid thoracolumbar vertebrae, Scoliosis |
OMIM:252900 |
Loeys-Dietz Syndrome 6 |
|
Ventricular hypertrophy, Carotid artery dissection, Thoracic aortic aneurysm, Varicose veins, Dil... |
OMIM:619656 |
Congenital Diaphragmatic Hernia |
|
Respiratory distress, Congenital diaphragmatic hernia, Aplasia/Hypoplasia of the diaphragm, Hypox... |
ORPHA:2140 |
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant |
|
Respiratory distress, Skeletal muscle atrophy, Thoracic scoliosis, Death in infancy, Abnormality ... |
OMIM:620278 |
Synaptic Congenital Myasthenic Syndromes |
|
Respiratory distress, Skeletal muscle atrophy, Scapular winging, Abnormality of the knee, Hypoven... |
ORPHA:98915 |
Beta-Mercaptolactate Cysteine Disulfiduria |
|
Atrial septal defect, Abnormality of the ureter, Genu valgum |
ORPHA:1035 |
Spinal muscular atrophy, type I, with congenital bone fractures |
|
Respiratory distress, Decreased muscle mass, Congenital hip dislocation, Pectus excavatum, Flexio... |
OMIM:271225 |
Grant Syndrome |
|
Joint dislocation, Abnormal rib morphology, Narrow chest, Wormian bones, Sprengel anomaly, Abnorm... |
ORPHA:2097 |
Cole-Carpenter Syndrome |
|
Kyphosis, Abnormal rib morphology, Abnormal form of the vertebral bodies, Scoliosis, Wormian bones |
ORPHA:2050 |
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction |
|
Myofiber disarray, Dilated cardiomyopathy, Death in adolescence, Cardiomyocyte hypertrophy, Left ... |
OMIM:612158 |
Renal Hypoplasia |
|
Renal insufficiency, Urethral valve, Proteinuria, Recurrent urinary tract infections, Unilateral ... |
ORPHA:93101 |
Malaria |
|
Respiratory distress, Acute kidney injury |
ORPHA:673 |
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
|
11 pairs of ribs, Platyspondyly, Thin ribs |
OMIM:300863 |
Achondrogenesis, Type Ii |
|
Barrel-shaped chest, Absent vertebral body mineralization, Stillbirth, Short ribs, Horizontal ribs |
OMIM:200610 |
Ellis Van Creveld Syndrome |
|
Hydroureter, Ventricular septal defect, Dextrocardia, Abnormal heart valve morphology, Hypospadia... |
ORPHA:289 |
Surfactant Metabolism Dysfunction, Pulmonary, 2 |
|
Respiratory distress, Nonspecific interstitial pneumonia, Spontaneous pneumothorax, Reduced force... |
OMIM:610913 |
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome |
|
Sacral dimple, Rib fusion |
ORPHA:544488 |
Metaphyseal Chondrodysplasia, Schmid Type |
|
Lumbar hyperlordosis, Anterior rib cupping, Osteosclerosis of ribs, Irregular vertebral endplates... |
ORPHA:174 |
Congenital Alveolar Capillary Dysplasia |
|
Respiratory distress, Bicuspid aortic valve, Ventricular septal defect, Patent ductus arteriosus,... |
ORPHA:210122 |
Staphylococcal Necrotizing Pneumonia |
|
Respiratory distress, Pneumonia, Nonproductive cough, Dyspnea, Tachypnea, Pneumothorax, Acute inf... |
ORPHA:36238 |
Dextrocardia |
|
Congenital hip dislocation, Dextrocardia, Situs inversus totalis, Abnormal renal morphology, Abno... |
ORPHA:1666 |
3M Syndrome |
|
Scapular winging, Congenital hip dislocation, Short neck, Hyperlordosis, Increased vertebral heig... |
ORPHA:2616 |
Achondrogenesis, Type Ia |
|
Barrel-shaped chest, Hypoplastic scapulae, Hypoplastic sacrum, Beaded ribs, Short neck, Short tho... |
OMIM:200600 |
Thanatophoric Dysplasia, Type I |
|
Small abnormally formed scapulae, Short neck, Wide-cupped costochondral junctions, Platyspondyly,... |
OMIM:187600 |
Achondrogenesis Type 1A |
|
Multiple rib fractures, Short neck, Short thorax, Narrow chest, Umbilical hernia |
ORPHA:93299 |
Cat-Eye Syndrome |
|
Abnormal rib morphology, Hydronephrosis, Abnormal localization of kidney, Renal hypoplasia/aplasia |
ORPHA:195 |
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy |
|
Optic disc pallor, Anterior rib cupping, Kyphoscoliosis, Short neck, Hypoplasia of the odontoid p... |
OMIM:300232 |
Thyroid Lymphoma |
|
Respiratory distress, Dyspnea, Stridor, Upper airway obstruction |
ORPHA:97285 |
Osteogenesis Imperfecta, Type Xvi |
|
Multiple rib fractures, Beaded ribs, Platyspondyly, Narrow chest, Wormian bones, Vertebral compre... |
OMIM:616229 |
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome |
|
Ventricular septal defect, Hypoplasia of penis, Hypoplastic left heart, Abnormal rib morphology |
ORPHA:2772 |
Cole-Carpenter Syndrome 2 |
|
Wide cranial sutures, Pectus excavatum, Kyphosis, Thin ribs, Platyspondyly, Lambdoidal craniosyno... |
OMIM:616294 |
Kniest Dysplasia |
|
Respiratory distress, Hip contracture, Enlarged joints, Tracheomalacia, Pectus excavatum, Hip dis... |
OMIM:156550 |
Baller-Gerold Syndrome |
|
Bicoronal synostosis, Optic nerve hypoplasia, Limited elbow movement, Sagittal craniosynostosis, ... |
OMIM:218600 |
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome |
|
Hyperlordosis, Abnormal rib morphology, Facial palsy, Pectus carinatum |
ORPHA:3068 |
Dysosteosclerosis |
|
Sclerotic scapulae, Delayed closure of the anterior fontanelle, Increased intervertebral space, O... |
OMIM:224300 |
Brown-Vialetto-Van Laere Syndrome 1 |
|
Hand muscle atrophy, Skeletal muscle atrophy, Respiratory distress, Respiratory failure requiring... |
OMIM:211530 |
Proteus Syndrome |
|
Venous malformation |
OMIM:176920 |
Meconium Aspiration Syndrome |
|
Respiratory distress, Neonatal asphyxia, Wheezing, Pneumothorax, Hypoxemia, Aspiration pneumonia,... |
ORPHA:70588 |
Heterotaxy, Visceral, 12, Autosomal |
|
Dextrotransposition of the great arteries, Atrial septal defect, Pulmonary artery atresia, Patent... |
OMIM:619702 |
X-Linked Centronuclear Myopathy |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Pneumonia, Weakness of ... |
ORPHA:596 |
Carnitine Deficiency, Systemic Primary |
|
Respiratory distress, Dicarboxylic aciduria, Cardiomegaly, Cardiomyopathy, Myopathy, Reduced musc... |
OMIM:212140 |
Zttk Syndrome |
|
Ventricular septal defect, Polyuria, Unilateral renal agenesis, Craniosynostosis, Kyphosis, Paten... |
OMIM:617140 |
Alagille Syndrome |
|
Ventricular septal defect, Renal hypoplasia/aplasia, Abnormal rib morphology, Abnormality of the ... |
ORPHA:52 |
Pseudoachondroplasia |
|
Lumbar hyperlordosis, Genu recurvatum, Ulnar deviation of the wrist, Spatulate ribs, Hypoplasia o... |
OMIM:177170 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
|
Respiratory distress, Hyperphosphaturia, Proteinuria, Respiratory insufficiency due to muscle wea... |
OMIM:220110 |
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome |
|
Kyphosis, Abnormal rib morphology, Short neck, Pectus carinatum |
ORPHA:3082 |
Renal Caliceal Diverticuli-Deafness Syndrome |
|
Hydroureter, Abnormality of the kidney, Abnormality of the upper urinary tract, Abnormality of th... |
ORPHA:2838 |
Avian Influenza |
|
Respiratory distress, Miscarriage, Pneumonia, Productive cough, Nonproductive cough, Dyspnea, Tac... |
ORPHA:454836 |
Brachytelephalangic Chondrodysplasia Punctata |
|
Optic nerve hypoplasia, Cervical kyphosis, Abnormality of the costochondral junction, Atlantoaxia... |
ORPHA:79345 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Respiratory distress, Flexion contracture, Pectus carinatum, Thoracic kyphosis, Atrial septal def... |
ORPHA:505248 |
Angioosteohypotrophic Syndrome |
|
Prominent superficial veins, Venous malformation |
ORPHA:75508 |
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia |
|
Respiratory distress, Death in infancy, Dilated cardiomyopathy, Tachypnea, Respiratory insufficie... |
OMIM:614299 |
Truncus Arteriosus |
|
Abnormal coronary artery morphology, Anomalous origin of one pulmonary artery from ascending aort... |
ORPHA:3384 |
Frontometaphyseal Dysplasia 1 |
|
Skeletal muscle atrophy, Limited elbow movement, Knee flexion contracture, Wrist flexion contract... |
OMIM:305620 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Multiple rib fractures, Ventricular septal defect, Hypospadias, Beaded ribs, Cardiomegaly, Flexio... |
OMIM:616897 |
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Death in infancy, Platyspondyly, Thin ribs |
ORPHA:163966 |
Multiple Pterygium Syndrome, X-Linked |
|
Joint dislocation, Vertebral fusion, Abnormal cervical curvature, Multiple pterygia, Thin ribs |
OMIM:312150 |
Acute Lung Injury |
|
Respiratory distress, Pneumonia, Dyspnea, Tachypnea, Hypoxemia, Respiratory failure |
ORPHA:178320 |
Klippel-Trénaunay Syndrome |
|
Peripheral arteriovenous fistula, Venous insufficiency, Patent ductus arteriosus, Abnormal tricus... |
ORPHA:90308 |
1P36 Deletion Syndrome |
|
11 pairs of ribs, Hypoplasia of penis, Abnormal heart valve morphology, Camptodactyly of finger, ... |
ORPHA:1606 |
Congenital Primary Megaureter |
|
Abnormal penis morphology, Recurrent urinary tract infections, Abnormality of the upper urinary t... |
ORPHA:617 |
Gm1-Gangliosidosis, Type I |
|
Death in infancy, Thickened ribs, Short neck, Kyphosis, Hypoplastic vertebral bodies, Scoliosis, ... |
OMIM:230500 |
Ciliary Dyskinesia, Primary, 2 |
|
Respiratory distress, Sinusitis, Dextrocardia, Situs inversus totalis, Bronchiectasis, Immotile c... |
OMIM:606763 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 2 |
|
Respiratory distress, Death in infancy, Myofiber disarray, Myopathy, Increased variability in mus... |
OMIM:604377 |
Dyggve-Melchior-Clausen Disease |
|
Barrel-shaped chest, Hypoplastic scapulae, Lumbar hyperlordosis, Flaring of lower rib cage, Short... |
OMIM:223800 |
Hypophosphatasia |
|
Craniosynostosis, Abnormal rib morphology, Respiratory insufficiency, Narrow chest, Emphysema |
ORPHA:436 |
Cardiospondylocarpofacial Syndrome |
|
Carpal synostosis, Ventricular septal defect, Tarsal synostosis, Congenital diaphragmatic hernia,... |
OMIM:157800 |
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome |
|
Abnormally ossified vertebrae, Abnormal rib morphology |
ORPHA:3035 |
Craniofaciofrontodigital Syndrome |
|
Respiratory distress, Bicuspid aortic valve, Ventricular septal defect, Abnormal heart valve morp... |
ORPHA:363705 |
Autosomal Dominant Centronuclear Myopathy |
|
Proximal muscle weakness in upper limbs, Miscarriage, Urinary incontinence, Centrally nucleated s... |
ORPHA:169189 |
Mucopolysaccharidosis, Type Iiib |
|
Thickened ribs, Ovoid thoracolumbar vertebrae |
OMIM:252920 |
Milroy Disease |
|
Varicose veins, Abnormal venous morphology |
ORPHA:79452 |
Spondyloepiphyseal Dysplasia Congenita |
|
Barrel-shaped chest, Respiratory distress, Lumbar hyperlordosis, Ovoid vertebral bodies, Limited ... |
OMIM:183900 |
Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Hyperlordosis, Short neck, Premature osteoarthritis, Platyspondyly, Squared-off platyspondyly, Sc... |
ORPHA:93352 |
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome |
|
Neonatal death, Patent ductus arteriosus, Abnormal cardiac septum morphology, Respiratory insuffi... |
OMIM:601612 |
Diamond-Blackfan Anemia 10 |
|
Respiratory distress, Ventricular septal defect, Congenital diaphragmatic hernia, Morgagni diaphr... |
OMIM:613309 |
Mucopolysaccharidosis, Type Iiic |
|
Beaking of vertebral bodies, Thickened ribs, Ovoid thoracolumbar vertebrae, Kyphoscoliosis |
OMIM:252930 |
Mitochondrial Pyruvate Carrier Deficiency |
|
Respiratory distress, Organic aciduria |
OMIM:614741 |
Hyperparathyroidism, Transient Neonatal |
|
Respiratory distress, Wide cranial sutures, Unilateral renal agenesis, Patent ductus arteriosus, ... |
OMIM:618188 |
Congenital Disorder Of Glycosylation, Type Ix |
|
Respiratory distress, Death in childhood |
OMIM:615597 |
Primary Pulmonary Hypoplasia |
|
Neonatal respiratory distress, Ureteral stenosis, Apnea, Dextrocardia, Abnormal hemidiaphragm mor... |
ORPHA:2257 |
Campomelia, Cumming Type |
|
Abnormally ossified vertebrae, Death in infancy, Abnormal thorax morphology, Abnormal rib morphology |
ORPHA:1318 |
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities |
|
Respiratory distress, Flexion contracture, Pectus carinatum, Scoliosis, Atrial septal defect, Hyp... |
OMIM:619383 |
Anaplastic Thyroid Carcinoma |
|
Respiratory distress, Dyspnea, Upper airway obstruction, Stridor, Cough |
ORPHA:142 |
Larsen-Like Syndrome, Lethal Type |
|
Joint dislocation, Multiple joint dislocation, Abnormal cartilage matrix, Respiratory insufficien... |
OMIM:245650 |
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans |
|
Respiratory distress, Central apnea, Lumbar hyperlordosis, Urinary incontinence, Kyphosis, Platys... |
OMIM:616482 |
Mucopolysaccharidosis Type 6 |
|
Ovoid vertebral bodies, Short neck, Kyphosis, Genu valgum, Broad ribs |
ORPHA:583 |
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction |
|
Respiratory distress, Neonatal respiratory distress, Ventricular septal defect, Crackles, Asthma,... |
OMIM:610978 |
Multiple Pterygium Syndrome, Lethal Type |
|
Joint dislocation, Vertebral fusion, Abnormal cervical curvature, Multiple pterygia, Thin ribs |
OMIM:253290 |
Silver-Russell Syndrome 1 |
|
Urethral valve, Hypospadias, Abnormality of the ureter, Congenital posterior urethral valve, Neph... |
OMIM:180860 |
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy) |
|
Respiratory distress, Aminoaciduria, Proximal tubulopathy |
OMIM:612075 |
Cardiomyopathy, Dilated, 2H |
|
Secundum atrial septal defect, Muscular ventricular septal defect, Tachypnea, Cardiorespiratory a... |
OMIM:620203 |
Mucolipidosis Iii Alpha/Beta |
|
Craniosynostosis, Irregular carpal bones, Short ribs, Scoliosis, Broad ribs, Shallow acetabular f... |
OMIM:252600 |
Mucopolysaccharidosis, Type Ivb |
|
Ulnar deviation of the wrist, Ovoid vertebral bodies, Hyperlordosis, Hypoplasia of the odontoid p... |
OMIM:253010 |
Congenital Myopathy 22B, Severe Fetal |
|
Respiratory distress, Hip contracture, Scapular winging, Thoracic scoliosis, Limb joint contractu... |
OMIM:620369 |
Craniosynostosis, Herrmann-Opitz Type |
|
Abnormality of the urethra, Craniosynostosis, Abnormal rib morphology, Abnormality of the upper u... |
ORPHA:2145 |
Vacterl Association With Hydrocephalus |
|
Stillbirth, Abnormality of the vertebral column, Abnormal vertebral morphology |
OMIM:276950 |
Auriculocondylar Syndrome 2A |
|
Respiratory distress, Apnea |
OMIM:614669 |
Three M Syndrome 2 |
|
Scapular winging, Lumbar hyperlordosis, Short neck, Hyperlordosis, Short thorax, Thin ribs, Pectu... |
OMIM:612921 |
Meier-Gorlin Syndrome 1 |
|
Respiratory distress, Genu recurvatum, Lateral clavicle hook, Flexion contracture, Flat glenoid f... |
OMIM:224690 |
Cenani-Lenz Syndrome |
|
Elbow dislocation, Abnormal rib morphology, Hip dislocation, Abnormal form of the vertebral bodie... |
ORPHA:3258 |
Acro-Renal-Mandibular Syndrome |
|
Abnormal clavicle morphology, Hypoplastic scapulae, Short neck, Kyphosis, Hemivertebrae, Hip disl... |
ORPHA:958 |
N-Acetylglutamate Synthase Deficiency |
|
Respiratory distress |
OMIM:237310 |
Progressive Supranuclear Palsy-Parkinsonism Syndrome |
|
Respiratory distress |
ORPHA:240085 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Respiratory distress, Cardiomyopathy, Renal insufficiency |
ORPHA:79312 |
Congenital Disorder Of Glycosylation, Type Ig |
|
Respiratory distress, Hypospadias, Patent ductus arteriosus, Recurrent pneumonia, Short ribs, Mic... |
OMIM:607143 |
Idiopathic Neonatal Atrial Flutter |
|
Respiratory distress, Tachypnea |
ORPHA:45452 |
Tetraamelia-Multiple Malformations Syndrome |
|
Abnormally ossified vertebrae, Septo-optic dysplasia, Missing ribs, Optic atrophy, Abnormal rib m... |
ORPHA:3301 |
Liposarcoma |
|
Varicose veins |
ORPHA:69078 |
Craniometadiaphyseal Dysplasia, Wormian Bone Type |
|
Wormian bones, Broad ribs, Wide anterior fontanel, Vertebral arch anomaly |
ORPHA:85184 |
Sacral Agenesis With Vertebral Anomalies |
|
Neonatal death, Absence of the sacrum, Vertebral clefting, Abnormal vertebral morphology |
OMIM:615709 |
Prune Belly Syndrome With Pulmonic Stenosis, Mental Retardation, And Deafness |
|
Hydroureter, Hydronephrosis, Pulmonic stenosis |
OMIM:264140 |
Schwartz-Jampel Syndrome |
|
Skeletal muscle atrophy, Apnea, Pectus carinatum, Wrist flexion contracture, Death in infancy, Ab... |
ORPHA:800 |
Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Patent ductus arteriosus, Tachypnea, Methylmalonic aciduria, Bell-shaped thorax, Atrial septal de... |
OMIM:614857 |
Cardiomyopathy, Familial Hypertrophic, 4 |
|
Ventricular hypertrophy, Respiratory distress, Cardiomegaly, Pericardial effusion, Dyspnea, Muscu... |
OMIM:115197 |
Thymic-Renal-Anal-Lung Dysplasia |
|
Ureteral agenesis, Ureteral dysgenesis, Renal agenesis |
OMIM:274265 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3 |
|
Ureteral stenosis, Hydroureter, Pectus excavatum, Patent ductus arteriosus, Hypercalciuria, Renal... |
OMIM:615398 |
Congenital Disorder Of Glycosylation, Type Ie |
|
Respiratory distress, Ankle flexion contracture, Patent ductus arteriosus, Knee flexion contractu... |
OMIM:608799 |
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies |
|
Pectus excavatum, Hypoplastic distal segments of scapulae, Abnormal rib morphology |
OMIM:602196 |
Familial Multiple Nevi Flammei |
|
Venous insufficiency, Arteriovenous malformation, Intracranial hemorrhage |
ORPHA:624 |
Urban-Rogers-Meyer Syndrome |
|
Hypoplasia of penis, Camptodactyly of finger, Kyphosis, Abnormality of the ureter, Flexion contra... |
ORPHA:3409 |
Marden-Walker Syndrome |
|
Skeletal muscle atrophy, Epispadias, Abnormal form of the vertebral bodies, Pectus carinatum, Abn... |
ORPHA:2461 |
Nipah Virus Disease |
|
Respiratory distress, Cough |
ORPHA:99825 |
Congenital Tracheomalacia |
|
Apnea, Cardiomegaly, Tracheobronchomalacia, Cough, Atrial septal defect, Emphysema, Single ventri... |
ORPHA:95430 |
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly |
|
Respiratory distress, Short thorax, Narrow chest, Flat acetabular roof |
OMIM:617102 |
Severe Congenital Nemaline Myopathy |
|
Skeletal muscle atrophy, Hypospadias, Facial palsy, Abnormal thorax morphology, Flexion contractu... |
ORPHA:171430 |
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion |
|
Respiratory distress, Hypoventilation, Prominent metopic ridge, Apnea, Recurrent pneumonia, Abnor... |
ORPHA:314655 |
Holzgreve Syndrome |
|
Abnormally ossified vertebrae, Abnormal rib morphology |
ORPHA:2167 |
Poland Syndrome |
|
Congenital diaphragmatic hernia, Aplasia of the pectoralis major muscle, Hemivertebrae, Pectus ca... |
ORPHA:2911 |
Noonan Syndrome 4 |
|
Pectus excavatum of inferior sternum, Ureteral duplication, Ventricular septal defect, Pectus exc... |
OMIM:610733 |
Congenital Anomalies Of Kidney And Urinary Tract 2 |
|
Renal dysplasia, Renal insufficiency, Hydroureter, Renal hypoplasia, Congenital megaureter, Urete... |
OMIM:143400 |
Enlarged Parietal Foramina |
|
Abnormal cerebral vein morphology, Venous malformation |
ORPHA:60015 |
Short-Rib Thoracic Dysplasia 15 With Polydactyly |
|
Respiratory distress, Patent ductus arteriosus, Horseshoe kidney, Aplasia of the epiglottis, Shor... |
OMIM:617088 |
Isolated Atp Synthase Deficiency |
|
Respiratory distress, Dilated cardiomyopathy, Renal hypoplasia, 3-Methylglutaconic aciduria, Hype... |
ORPHA:254913 |
Trisomy 1Q |
|
Multicystic kidney dysplasia, Ventricular septal defect, Camptodactyly of finger, Congenital diap... |
ORPHA:261344 |
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence |
|
Respiratory distress, Neonatal respiratory distress, Hypospadias, Patent ductus arteriosus, Cardi... |
OMIM:217980 |
Craniometadiaphyseal Dysplasia |
|
Cubitus valgus, Wide anterior fontanel, Genu valgum, Scoliosis, Wormian bones, Broad ribs, Genu v... |
OMIM:269300 |
Surfactant Metabolism Dysfunction, Pulmonary, 1 |
|
Death in infancy, Neonatal respiratory distress, Apnea, Dyspnea, Tachypnea, Respiratory failure, ... |
OMIM:265120 |
Hurler Syndrome |
|
Abnormal clavicle morphology, Death in infancy, Camptodactyly of finger, Short neck, Abnormality ... |
ORPHA:93473 |
Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Occipital encephalocele, Anisospondyly, Neonatal death, Pterygium, Thoracic hypoplasia |
OMIM:224410 |
Microphthalmia-Microtia-Fetal Akinesia Syndrome |
|
Hypoplasia of penis, Hydroureter, Camptodactyly of finger, Abnormality of the upper urinary tract... |
ORPHA:2547 |
Vertebral Hypersegmentation And Orofacial Anomalies |
|
Pectus excavatum, Scapular winging, Supernumerary ribs, Six lumbar vertebrae |
OMIM:619122 |
Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome |
|
Venous insufficiency, Arteriovenous malformation |
ORPHA:137608 |
Wolf-Hirschhorn Syndrome |
|
Rib segmentation abnormalities, Vertebral fusion, Sacral dimple, Kyphosis, Rib fusion, Hip disloc... |
OMIM:194190 |
Greenberg Dysplasia |
|
Beaded ribs, Hypoplastic vertebral bodies, Narrow chest, Absent or minimally ossified vertebral b... |
OMIM:215140 |
Atelosteogenesis, Type I |
|
11 pairs of ribs, Encephalocele, Long clavicles, Short neck, Thoracic platyspondyly, Elbow disloc... |
OMIM:108720 |
Acrorenal-Mandibular Syndrome |
|
Hypoplastic scapulae, Renal agenesis, Congenital diaphragmatic hernia, Missing ribs, Kyphoscolios... |
OMIM:200980 |
Aspergillosis |
|
Sinusitis, Abnormality of the kidney, Pneumonia, Dyspnea, Asthma, Chronic pulmonary obstruction, ... |
ORPHA:1163 |
Cantú Syndrome |
|
Ovoid vertebral bodies, Short neck, Cuboid-shaped vertebral bodies, Platyspondyly, Umbilical hern... |
ORPHA:1517 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Lumbar hyperlordosis, Unilateral renal agenesis, Bilateral renal dysplasia, Kyphoscoliosis, Sagit... |
ORPHA:500150 |
Osteogenesis Imperfecta, Type Viii |
|
Barrel-shaped chest, Kyphosis, Wide anterior fontanel, Thin ribs, Platyspondyly, Scoliosis, Wormi... |
OMIM:610915 |
Lymphangiectasia, Intestinal |
|
Stillbirth, Prominent floating ribs |
OMIM:152800 |
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development |
|
Craniosynostosis, Thin ribs, Vesicoureteral reflux, Arthrogryposis multiplex congenita, Hydroneph... |
OMIM:618265 |
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Respiratory distress, Multiple joint contractures, Multiple joint dislocation, Pectus carinatum, ... |
ORPHA:536467 |
Renpenning Syndrome |
|
Skeletal muscle atrophy, Hypospadias, Pectus excavatum, Abnormal rib morphology, Sprengel anomaly |
ORPHA:3242 |
Aneurysm-Osteoarthritis Syndrome |
|
Osteoarthritis of the small joints of the hand, Camptodactyly of finger, Protrusio acetabuli, Cra... |
ORPHA:284984 |
Familial Osteodysplasia, Anderson Type |
|
Aplastic clavicle, Missing ribs, Elbow dislocation, Kyphosis, Abnormal rib morphology, Abnormal f... |
ORPHA:2769 |
Kagami-Ogata Syndrome |
|
Long clavicles, Ventricular septal defect, Diastasis recti, Kyphoscoliosis, Patent ductus arterio... |
OMIM:608149 |
Sclerosteosis 1 |
|
Papilledema, Facial palsy, Sclerotic scapulae, Broad clavicles, Optic atrophy, Broad ribs, Sclero... |
OMIM:269500 |
Episodic Ataxia Type 1 |
|
Respiratory distress, Calf muscle hypertrophy, Kyphoscoliosis, Scoliosis |
ORPHA:37612 |
Chromosome 1P36 Deletion Syndrome, Distal |
|
11 pairs of ribs, Noncompaction cardiomyopathy, Bicuspid aortic valve, Camptodactyly of finger, V... |
OMIM:607872 |
Folinic Acid-Responsive Seizures |
|
Respiratory distress, Apnea |
ORPHA:79097 |
Heterotaxy, Visceral, 1, X-Linked |
|
Respiratory distress, Congenital hip dislocation, Cardiomegaly, Dextrotransposition of the great ... |
OMIM:306955 |
Slc35A1-Cdg |
|
Respiratory distress, Pneumonia, Hypoxemia |
ORPHA:238459 |
Lissencephaly Syndrome, Norman-Roberts Type |
|
Atrial septal defect, Patent foramen ovale, Respiratory distress |
ORPHA:89844 |
Cardiac Diverticulum |
|
Bicuspid aortic valve, Bicuspid pulmonary valve, Pulmonary artery hypoplasia, Atrial septal defec... |
ORPHA:1686 |
Spondylometaphyseal Dysplasia, Algerian Type |
|
Lumbar hyperlordosis, Anterior rib cupping, Kyphoscoliosis, Genu valgum, Platyspondyly, Carpal bo... |
OMIM:184253 |
Chitayat Syndrome |
|
Pectus excavatum, Respiratory distress, Tracheomalacia |
OMIM:617180 |
Heterotaxy, Visceral, 2, Autosomal |
|
Dextrocardia, Situs inversus totalis, Atrioventricular canal defect, Left atrial isomerism, Trans... |
OMIM:605376 |
Congenital Myasthenic Syndrome |
|
Congenital hip dislocation, Sudden episodic apnea, Kyphoscoliosis, Intermittent episodes of respi... |
ORPHA:590 |
Presynaptic Congenital Myasthenic Syndromes |
|
Congenital hip dislocation, Sudden episodic apnea, Kyphoscoliosis, Intermittent episodes of respi... |
ORPHA:98914 |
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness |
|
Lumbar hyperlordosis, Cupped ribs, Flat glenoid fossa, Irregular chondrocostal junctions, Genu va... |
OMIM:250420 |
Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema |
|
Respiratory distress, Upper airway obstruction |
ORPHA:100057 |
Achondroplasia |
|
Respiratory distress, Death in infancy, Lumbar hyperlordosis, Upper airway obstruction, Short rib... |
OMIM:100800 |
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Facial hypotonia, Cardi... |
ORPHA:308552 |
Infant Acute Respiratory Distress Syndrome |
|
Pneumonia, Nasal flaring, Tachypnea, Hypoxemia, Respiratory failure |
ORPHA:70587 |
Hypoglossia With Situs Inversus |
|
Situs inversus totalis, Upper airway obstruction, Respiratory distress |
OMIM:612776 |
Choanal Atresia |
|
Respiratory distress, Upper airway obstruction, Tracheomalacia, Chronic sinusitis, Abnormal nasal... |
ORPHA:137914 |
Cleidocranial Dysplasia |
|
Hypoplastic scapulae, Down-sloping shoulders, Abnormal sacrum morphology, Abnormal rib morphology... |
ORPHA:1452 |
Pseudo-Torch Syndrome 2 |
|
Acute respiratory distress syndrome, Secundum atrial septal defect, Patent ductus arteriosus, Res... |
OMIM:617397 |
Surfactant Metabolism Dysfunction, Pulmonary, 5 |
|
Dyspnea, Respiratory insufficiency, Exertional dyspnea |
OMIM:614370 |
Phosphoribosylaminoimidazole Carboxylase Deficiency |
|
Neonatal death, Lumbar hemivertebrae, Short neck, Missing ribs |
OMIM:619859 |
Mitochondrial Complex I Deficiency, Nuclear Type 18 |
|
Death in infancy, Respiratory failure, Hydroureter, Hydronephrosis |
OMIM:618240 |
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism |
|
Congenital hip dislocation, Pectus excavatum, Patent ductus arteriosus, Hemivertebrae, Mitral val... |
OMIM:104350 |
Vacterl/Vater Association |
|
Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Renal agenesis, Congenital diaphr... |
ORPHA:887 |
Progressive Supranuclear Palsy-Corticobasal Syndrome |
|
Respiratory distress |
ORPHA:240103 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Renal tubular dysfunction, Renal insufficiency, Respiratory distress |
ORPHA:289916 |
Mosaic Trisomy 8 |
|
Camptodactyly of finger, Short neck, Patellar aplasia, Abnormal rib morphology, Vertebral segment... |
ORPHA:96061 |
Basal Cell Nevus Syndrome 1 |
|
Vertebral fusion, Down-sloping shoulders, Kyphoscoliosis, Spina bifida, Hemivertebrae, Vertebral ... |
OMIM:109400 |
X-Linked Myotubular Myopathy-Abnormal Genitalia Syndrome |
|
Glandular hypospadias, Respiratory insufficiency, Thin ribs, Micropenis, Penile hypospadias, Peno... |
ORPHA:456328 |
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis |
|
Respiratory distress, Joint swelling, Fused cervical vertebrae, Flaring of rib cage, Broad ribs |
OMIM:612852 |
Thin Ribs-Tubular Bones-Dysmorphism Syndrome |
|
Abnormal rib morphology |
ORPHA:1506 |
Diabetic Embryopathy |
|
Ureteral duplication, Ventricular septal defect, Renal hypoplasia/aplasia, Aplasia/Hypoplasia of ... |
ORPHA:1926 |
Pulmonary Hypertension, Primary, 3 |
|
Increased pulmonary vascular resistance, Dyspnea, Elevated pulmonary artery pressure, Pulmonary a... |
OMIM:615343 |
Campomelic Dysplasia |
|
Respiratory distress, Thoracic scoliosis, Apnea, Cervical kyphosis, Patellar hypoplasia, Pectus c... |
OMIM:114290 |
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
|
Respiratory distress, Skeletal muscle atrophy, Flexion contracture, Dilated cardiomyopathy, Abnor... |
ORPHA:367 |
Cartilage-Hair Hypoplasia |
|
Lumbar hyperlordosis, Aganglionic megacolon, Flaring of lower rib cage, Hypoplasia of the odontoi... |
OMIM:250250 |
Osteogenesis Imperfecta, Type Vii |
|
Multiple rib fractures, Wide cranial sutures, Death in infancy, Protrusio acetabuli, Pectus excav... |
OMIM:610682 |
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly |
|
Joint dislocation, Thoracolumbar scoliosis, Ovoid vertebral bodies, Hyperlordosis, Horizontal rib... |
OMIM:618019 |
Koolen-De Vries Syndrome |
|
Ureteral duplication, Vertebral fusion, Bicuspid aortic valve, Hypospadias, Pectus excavatum, Kyp... |
ORPHA:96169 |
Erythrocytosis, Familial, 2 |
|
Varicose veins, Stroke, Cerebral hemorrhage |
OMIM:263400 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Respiratory distress, Glutaric aciduria, Generalized aminoaciduria, Renal cortical cysts, Proxima... |
OMIM:231680 |
Cartilage-Hair Hypoplasia |
|
Abnormally ossified vertebrae, Biconvex vertebral bodies, Aganglionic megacolon, Sacral dimple, F... |
ORPHA:175 |
Parkes Weber Syndrome |
|
Peripheral arteriovenous fistula, Cerebral arteriovenous malformation, Subarachnoid hemorrhage, V... |
ORPHA:90307 |
Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 1 |
|
Lacunar stroke, Varicose veins, Stroke, Vascular granular osmiophilic material deposition |
OMIM:125310 |
Renal Dysplasia |
|
Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure... |
ORPHA:93108 |
Bent Bone Dysplasia Syndrome 2 |
|
Short neck, Thin ribs, Coronal cleft vertebrae, Platyspondyly, Short sternum, Short ribs, Hypopla... |
OMIM:620076 |
Acquired Methemoglobinemia |
|
Respiratory distress, Dyspnea, Hypoxemia |
ORPHA:464453 |
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Respiratory distress, Stage 5 chronic kidney disease, Methylmalonic aciduria, Cardiomyopathy, Tub... |
OMIM:251000 |
Ellis-Van Creveld Syndrome |
|
Hypospadias, Epispadias, Capitate-hamate fusion, Pectus carinatum, Genu valgum, Short ribs, Narro... |
OMIM:225500 |
Microcephalic Primordial Dwarfism, Toriello Type |
|
Abnormal rib morphology |
ORPHA:2643 |
Cerebrocostomandibular Syndrome |
|
Rib gap, 10 pairs of ribs, 11 pairs of ribs, Congenital hip dislocation, Ventricular septal defec... |
OMIM:117650 |
Ossification Anomalies-Psychomotor Developmental Delay Syndrome |
|
Abnormal thorax morphology, Narrow chest, Abnormal form of the vertebral bodies, Thin ribs |
ORPHA:73230 |
Pallister-Hall Syndrome |
|
Ventricular septal defect, Hypospadias, Unilateral renal agenesis, Ectopic kidney, Patent ductus ... |
ORPHA:672 |
Brain-Lung-Thyroid Syndrome |
|
Respiratory distress, Neonatal respiratory distress, Ventricular septal defect, Hypospadias, Asth... |
ORPHA:209905 |
Neuromuscular Oculoauditory Syndrome |
|
Respiratory distress, Knee flexion contracture, Calf muscle hypertrophy, Muscle fiber necrosis, M... |
OMIM:618733 |
Mogs-Cdg |
|
Respiratory distress, Hypoventilation, Thoracic scoliosis, Apnea, Cardiomegaly, Atrial septal def... |
ORPHA:79330 |
Marfanoid Habitus With Situs Inversus |
|
Situs inversus totalis, Mitral valve prolapse, Aortic root aneurysm, Pulmonic stenosis, Persisten... |
OMIM:609008 |
Mgat2-Cdg |
|
Respiratory distress, Ventricular septal defect, Pectus excavatum, Kyphosis, Patent ductus arteri... |
ORPHA:79329 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Respiratory distress, Exercise-induced rhabdomyolysis, Ventricular septal defect, Episodic tachyp... |
ORPHA:26793 |
Tularemia |
|
Respiratory distress, Pleural effusion, Pneumonia, Cough |
ORPHA:3392 |
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
|
Respiratory distress, Ureteral duplication, Double outlet left ventricle, Ventricular septal defe... |
ORPHA:2255 |
Baller-Gerold Syndrome |
|
Aplasia/Hypoplasia of the patella, Abnormality of the ureter, Abnormal carpal morphology, Abnorma... |
ORPHA:1225 |
Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Platyspondyly, Abnormal rib morphology, Narrow chest, Abnormal scapula morphology |
ORPHA:93317 |
Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Respiratory distress, Orthopnea, Facial hypotonia, Glycogen accumulation in muscle fiber lysosome... |
ORPHA:365 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Renal dysplasia, Ureteral duplication, Renal insufficiency, Neonatal respiratory distress, Apnea,... |
OMIM:608836 |
Trisomy 20P |
|
Hypospadias, Camptodactyly of finger, Abnormality of the kidney, Kyphosis, Abnormality of the ure... |
ORPHA:261318 |
Otopalatodigital Syndrome Type 2 |
|
Abnormal heart valve morphology, Camptodactyly of finger, Hypospadias, Tarsal synostosis, Elbow d... |
ORPHA:90652 |
Occipital Horn Syndrome |
|
Orthostatic hypotension, Persistent open anterior fontanelle, Broad clavicles, Pectus excavatum, ... |
OMIM:304150 |
Thymic Carcinoma |
|
Abnormal vena cava morphology |
ORPHA:99868 |
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion |
|
Diastasis recti, Pectus excavatum, Flexion contracture, Macroglossia, Respiratory failure, Promin... |
ORPHA:254528 |
Carpenter Syndrome 1 |
|
Hydroureter, Ventricular septal defect, Sagittal craniosynostosis, Lateral displacement of patell... |
OMIM:201000 |
Meacham Syndrome |
|
Atrial septal defect, Bicuspid aortic valve, Ventricular septal defect, Dextrocardia, Patent duct... |
OMIM:608978 |
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly |
|
Renal hypoplasia, Renal cyst, Ureteral agenesis, Stillbirth, Neonatal death, Arthrogryposis multi... |
OMIM:236500 |
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy |
|
Respiratory distress, Flexion contracture, Scoliosis |
ORPHA:544503 |
Paternal 20Q13.2Q13.3 Microdeletion Syndrome |
|
Respiratory distress |
ORPHA:261304 |
Nasolacrimal Duct Cyst |
|
Intercostal retractions, Episodic respiratory distress, Stridor, Paroxysmal dyspnea, Abnormal bre... |
ORPHA:141083 |
Antley-Bixler Syndrome |
|
Camptodactyly of finger, Craniosynostosis, Abnormal renal morphology, Abnormal rib morphology, Na... |
ORPHA:83 |
Congenital Megacalycosis |
|
Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne... |
ORPHA:93109 |
Acromesomelic Dysplasia 4 |
|
Thoracic scoliosis, Lumbar hyperlordosis, Thoracic platyspondyly, Enlargement of the costochondra... |
OMIM:619636 |
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation |
|
Ventricular septal defect, Diastasis recti, Abnormal heart morphology, Coat hanger sign of ribs, ... |
ORPHA:254534 |
Lethal Congenital Contracture Syndrome 5 |
|
Death in infancy, Centrally nucleated skeletal muscle fibers, Flexion contracture, Respiratory in... |
OMIM:615368 |
Codas Syndrome |
|
Congenital hip dislocation, Hydroureter, Ventricular septal defect, Abnormal form of the vertebra... |
ORPHA:1458 |
Microphthalmia, Lenz Type |
|
Abnormal clavicle morphology, Hydroureter, Hypospadias, Camptodactyly of finger, Renal hypoplasia... |
ORPHA:568 |
Severe Generalized Junctional Epidermolysis Bullosa |
|
Urethral stricture, Respiratory distress, Renal cyst, Aplasia/Hypoplasia of the bladder, Ureteroc... |
ORPHA:79404 |
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome |
|
Abnormality of the ureter, Ventricular septal defect, Renal hypoplasia/aplasia |
ORPHA:1770 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Respiratory distress, Apnea, Cardiomegaly, Pericardial effusion, Increased myocardial glycogen co... |
OMIM:261740 |
Moebius Syndrome |
|
Respiratory distress, Congenital fibrosis of extraocular muscles, Facial diplegia, Camptodactyly,... |
OMIM:157900 |
Inhalational Anthrax |
|
Respiratory distress, Dyspnea |
ORPHA:247257 |
Stt3B-Cdg |
|
Respiratory distress |
ORPHA:370924 |
Gaucher Disease, Perinatal Lethal |
|
Respiratory distress, Apnea, Cardiomegaly, Neonatal death, Arthrogryposis multiplex congenita, Th... |
OMIM:608013 |
Vesicoureteral Reflux 3 |
|
Ureteropelvic junction obstruction, Grade IV vesicoureteral reflux, Recurrent urinary tract infec... |
OMIM:613674 |
Smith-Magenis Syndrome |
|
Renal hypoplasia/aplasia, Abnormality of the ureter, Abnormal form of the vertebral bodies, Abnor... |
ORPHA:819 |
Exstrophy-Epispadias Complex |
|
Renal insufficiency, Bladder fistula, Urinary incontinence, Abnormality of the kidney, Epispadias... |
ORPHA:322 |
Primary Ciliary Dyskinesia |
|
Atrial situs ambiguous, Abnormal atrial arrangement, Situs inversus totalis, Anomalous pulmonary ... |
ORPHA:244 |
Farber Disease |
|
Respiratory distress, Abnormality of the knee, Skeletal muscle atrophy, Flexion contracture, Abno... |
ORPHA:333 |
Kyphomelic Dysplasia |
|
Anterior rib cupping, Lateral clavicle hook, Undulate ribs, Flat acetabular roof, Platyspondyly, ... |
OMIM:211350 |
Caudal Duplication |
|
Abnormal penis morphology, Ureteral duplication, Renal hypoplasia/aplasia, Bifid sacrum, Vertebra... |
ORPHA:1756 |
Shprintzen-Goldberg Craniosynostosis Syndrome |
|
Genu recurvatum, Craniosynostosis, Lateral clavicle hook, Pectus excavatum, Wide anterior fontane... |
OMIM:182212 |
Oculopharyngodistal Myopathy 1 |
|
Respiratory distress, Autophagic vacuoles, Facial palsy, Hypercapnia, Reduced forced vital capaci... |
OMIM:164310 |
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted |
|
Respiratory distress, Patent ductus arteriosus, Hip dislocation, Hydronephrosis, Scoliosis, Atria... |
OMIM:300968 |
Aredyld Syndrome |
|
Abnormality of the ureter, Scoliosis |
ORPHA:1133 |
Congenital Tracheal Stenosis |
|
Respiratory distress, Ventricular septal defect, Abnormality of the kidney, Neonatal asphyxia, Pa... |
ORPHA:141127 |
Triosephosphate Isomerase Deficiency |
|
Respiratory distress, Skeletal muscle atrophy, Death in infancy, Respiratory insufficiency due to... |
OMIM:615512 |
Czeizel-Losonci Syndrome |
|
Posterolateral diaphragmatic hernia, Dextrocardia, Thoracolumbar scoliosis, Ureteral agenesis, Co... |
ORPHA:2437 |
Microlissencephaly-Micromelia Syndrome |
|
11 pairs of ribs, Fetal pyelectasis, Respiratory distress |
ORPHA:50810 |
Kaposi Sarcoma |
|
Venous insufficiency |
ORPHA:33276 |
Structural Heart Defects And Renal Anomalies Syndrome |
|
Ventricular septal defect, Partial anomalous pulmonary venous return, Right aortic arch, Interrup... |
OMIM:617478 |
Multiple Pterygium-Malignant Hyperthermia Syndrome |
|
Skeletal muscle atrophy, Congenital muscular torticollis, Prominent metopic ridge, Camptodactyly ... |
ORPHA:2215 |
Urofacial Syndrome 1 |
|
Recurrent urinary tract infections, Hydroureter, Urethral valve, Urethral obstruction, Enuresis, ... |
OMIM:236730 |
Chromosome 6Q24-Q25 Deletion Syndrome |
|
Respiratory distress, Patent ductus arteriosus, Dysplastic tricuspid valve, Mitral valve prolapse... |
OMIM:612863 |
Schinzel-Giedion Syndrome |
|
Respiratory distress, Abnormal clavicle morphology, Hypospadias, Kyphoscoliosis, Abnormal thorax ... |
ORPHA:798 |
Complete Atrioventricular Septal Defect |
|
Intercostal retractions, Crackles, Cardiomegaly, Complete atrioventricular canal defect, Wheezing... |
ORPHA:1329 |
Agnathia-Otocephaly Complex |
|
Secundum atrial septal defect, Respiratory distress, Tracheomalacia, Situs inversus totalis |
OMIM:202650 |
Cleidocranial Dysplasia 1 |
|
Respiratory distress, Persistent open anterior fontanelle, Hypoplastic scapulae, Wormian bones, N... |
OMIM:119600 |
Mercury Poisoning |
|
Respiratory distress, Dyspnea, Respiratory failure, Interstitial pneumonitis |
ORPHA:330021 |
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency |
|
Mitral valve prolapse, Aortic dissection, Arterial dissection, Abnormal venous morphology, Vascul... |
ORPHA:1900 |
Loeys-Dietz Syndrome 3 |
|
Ventricular hypertrophy, Bicuspid aortic valve, Protrusio acetabuli, Craniosynostosis, Patent duc... |
OMIM:613795 |
Mucopolysaccharidosis, Type Vi |
|
Lumbar hyperlordosis, Ovoid vertebral bodies, Kyphoscoliosis, Anterior wedging of L2, Hypoplasia ... |
OMIM:253200 |
Vater/Vacterl Association |
|
Renal dysplasia, Ventricular septal defect, Hypospadias, Renal agenesis, Ectopic kidney, Patent d... |
OMIM:192350 |
Ear-Patella-Short Stature Syndrome |
|
Respiratory distress, Hypoplasia of penis, Hypospadias, Camptodactyly of finger, Aplastic clavicl... |
ORPHA:2554 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Respiratory distress, Intermittent hyperventilation, Episodic tachypnea, Dyspnea, Apneic episodes... |
ORPHA:348 |
Cerebrocostomandibular Syndrome |
|
Death in infancy, Spina bifida, Kyphosis, Myelomeningocele, Meningocele, Posterior rib gap, Bell-... |
ORPHA:1393 |
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type |
|
Short neck, Pectus carinatum, Knee flexion contracture, Abnormal calcification of the carpal bone... |
OMIM:271665 |
Melnick-Needles Syndrome |
|
Hypoplastic scapulae, Ureteral stenosis, Anterior concavity of thoracic vertebrae, Kyphoscoliosis... |
OMIM:309350 |
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Respiratory distress, Skeletal muscle atrophy, Hypospadias, Apnea, Abnormal renal collecting syst... |
ORPHA:17 |
Bacterial Toxic-Shock Syndrome |
|
Respiratory distress, Myositis, Renal insufficiency, Recurrent urinary tract infections, Glomerul... |
ORPHA:36234 |
Developmental And Epileptic Encephalopathy 68 |
|
Respiratory distress |
OMIM:618201 |
Autosomal Dominant Popliteal Pterygium Syndrome |
|
Popliteal pterygium, Abnormal rib morphology, Scoliosis |
ORPHA:1300 |
Aortic Arch Interruption |
|
Respiratory distress, Bicuspid aortic valve, Ventricular septal defect, Patent ductus arteriosus,... |
ORPHA:2299 |
Agnathia-Holoprosencephaly-Situs Inversus Syndrome |
|
Situs inversus totalis, Hypoplasia of penis, Respiratory distress |
ORPHA:990 |
Glomuvenous Malformation |
|
Gastrointestinal arteriovenous malformation, Arteriovenous malformation, Venous malformation |
ORPHA:83454 |
Pyknoachondrogenesis |
|
Short thorax, Poorly ossified vertebrae, Enlarged thorax, Unossified sacrum, Short ribs, Horizont... |
ORPHA:3003 |
Combined Oxidative Phosphorylation Deficiency 19 |
|
Respiratory distress, Increased variability in muscle fiber diameter, Stridor, Lacticaciduria |
OMIM:615595 |
Frontometaphyseal Dysplasia |
|
Limited elbow movement, Spina bifida occulta, Wrist flexion contracture, Dislocated radial head, ... |
ORPHA:1826 |
Mitochondrial Complex I Deficiency, Nuclear Type 37 |
|
Respiratory distress, Skeletal muscle atrophy, Hypospadias, Pulmonary arterial hypertension |
OMIM:619272 |
8Q24.3 Microdeletion Syndrome |
|
Respiratory distress, Thoracic scoliosis, Congenital hip dislocation, Ventricular septal defect, ... |
ORPHA:508488 |
Holocarboxylase Synthetase Deficiency |
|
Respiratory distress, Tachypnea |
ORPHA:79242 |
Primary Dystonia, Dyt4 Type |
|
Respiratory distress, Torticollis, Kyphoscoliosis |
ORPHA:98805 |
Muscular Dystrophy, Congenital, With Or Without Seizures |
|
Respiratory distress, Respiratory failure |
OMIM:620166 |
Monosomy 9Q22.3 |
|
Short neck, Pectus excavatum, Kyphosis, Abnormal rib morphology, Abnormality of the vertebral col... |
ORPHA:77301 |
Stankiewicz-Isidor Syndrome |
|
Ureteral duplication, Ventricular septal defect, Hypospadias, Patent ductus arteriosus, Micropeni... |
OMIM:617516 |
Arterial Tortuosity Syndrome |
|
Respiratory distress, Craniosynostosis, Myocarditis, Dyspnea, Dilated cardiomyopathy, Hip disloca... |
ORPHA:3342 |
Restrictive Dermopathy 2 |
|
Respiratory distress, Short clavicles |
OMIM:619793 |
Acrocapitofemoral Dysplasia |
|
Lumbar hyperlordosis, Ovoid vertebral bodies, Pectus excavatum, Cupped ribs, Pectus carinatum, De... |
OMIM:607778 |
Neurodegeneration And Seizures Due To Copper Transport Defect |
|
Respiratory distress, Cardiomegaly, Pneumothorax, Glandular hypospadias, Limb hypertonia |
OMIM:620306 |
Isotretinoin-Like Syndrome |
|
Bicuspid aortic valve, Patent ductus arteriosus, Abnormal cardiac ventricle morphology, Abnormal ... |
ORPHA:2306 |
Short-Rib Thoracic Dysplasia 12 |
|
Hypoplastic scapulae, Ventricular septal defect, Patent ductus arteriosus, Short thorax, Renal hy... |
OMIM:269860 |
Congenital Enterovirus Infection |
|
Respiratory distress, Pericardial effusion, Myocarditis, Cardiomyopathy, Pleural effusion |
ORPHA:292 |
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Unicoronal synostosis, Patent ductus arteriosus, Renal hypoplasia, Renal cyst, Flat acetabular ro... |
OMIM:616300 |
Nestor-Guillermo Progeria Syndrome |
|
Wide cranial sutures, Left atrial enlargement, Limited elbow movement, Delayed closure of the ant... |
OMIM:614008 |
Lethal Congenital Contracture Syndrome 10 |
|
Torticollis, Overriding aorta, Ventricular septal defect, Thoracic scoliosis, Cardiomegaly, Macro... |
OMIM:617022 |
Tetanus |
|
Respiratory distress, Elevated urinary epinephrine level, Tachypnea, Elevated urinary norepinephr... |
ORPHA:3299 |
Simpson-Golabi-Behmel Syndrome |
|
Ureteral duplication, Hypoplasia of penis, Congenital hip dislocation, Congenital diaphragmatic h... |
ORPHA:373 |
Arboleda-Tham Syndrome |
|
Respiratory distress, Recurrent urinary tract infections, Neonatal respiratory distress, Ventricu... |
OMIM:616268 |
Lymphatic Malformation 7 |
|
Pericardial effusion, Varicose veins, Atrial septal defect |
OMIM:617300 |
Clapo Syndrome |
|
Varicose veins, Venous malformation |
ORPHA:168984 |
Telangiectasia, Hereditary Hemorrhagic, Type 4 |
|
Transient ischemic attack, Pulmonary arteriovenous malformation, Cerebral arteriovenous malformat... |
OMIM:610655 |
Tetrasomy 5P |
|
Pectus excavatum, Pulmonary arterial hypertension, Aplasia/Hypoplasia of the abdominal wall muscu... |
ORPHA:3309 |
Congenital Total Pulmonary Venous Return Anomaly |
|
Respiratory distress, Atrial situs ambiguous, Cardiomegaly, Mixed total anomalous pulmonary venou... |
ORPHA:99125 |
Osteogenesis Imperfecta |
|
Multiple rib fractures, Cervical kyphosis, Protrusio acetabuli, Pectus excavatum, Kyphosis, Osteo... |
ORPHA:666 |
Esophageal Atresia |
|
Respiratory distress, Renal agenesis, Ventricular septal defect, Episodic respiratory distress, C... |
ORPHA:1199 |
Adenine Phosphoribosyltransferase Deficiency |
|
2,8-dihydroxyadenine crystalluria, Renal insufficiency, Urolithiasis, Nephrolithiasis, Oliguria, ... |
OMIM:614723 |
Q Fever |
|
Respiratory distress, Pericarditis, Abnormal heart valve morphology, Pneumonia, Pericardial effus... |
ORPHA:781 |
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy |
|
Respiratory distress, Contractures of the large joints, Scoliosis |
ORPHA:329178 |
X-Linked Hypophosphatemia |
|
Craniosynostosis, Beaded ribs, Enlargement of the costochondral junction, Sacroiliac joint synovi... |
ORPHA:89936 |
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency |
|
Respiratory distress |
ORPHA:927 |
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia |
|
Varicose veins |
OMIM:314300 |
Osteopathia Striata With Cranial Sclerosis |
|
Multicystic kidney dysplasia, Ventricular septal defect, Facial palsy, Delayed closure of the ant... |
OMIM:300373 |
Thrombocytopenia-Absent Radius Syndrome |
|
Ureteral duplication, Lateral clavicle hook, Abnormal shoulder morphology, Vesicoureteral reflux,... |
OMIM:274000 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures |
|
11 pairs of ribs, Ovoid vertebral bodies, Kyphoscoliosis, Short neck, Cupped ribs, Radial head su... |
OMIM:271640 |
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Death in infancy, Renal insufficiency, Proteinuria, Lateral clavicle hook, Chronic kidney disease... |
OMIM:208500 |
Digeorge Syndrome |
|
Renal dysplasia, Renal insufficiency, Ventricular septal defect, Unilateral renal agenesis, Paten... |
OMIM:188400 |
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Ventricular septal defect, Lateral clavicle hook, Pectus carinatum, Platyspondyly, Thoracic dyspl... |
OMIM:263520 |
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Cupped ribs, Platyspondyly, Ovoid vertebral bodies, Scoliosis |
ORPHA:85167 |
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Thoracic hypoplasia, Lateral clavicle hook, Short ribs, Scoliosis, Acetabular spurs, Horizontal ribs |
OMIM:613091 |
Absence Of The Pulmonary Artery |
|
Abnormal coronary artery morphology, Cardiomegaly, Patent ductus arteriosus, Coarctation of aorta... |
ORPHA:980 |
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9 |
|
Respiratory distress, Death in infancy, Neonatal respiratory distress, Apnea, Hypopnea, Death in ... |
OMIM:618426 |
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures |
|
Optic nerve hypoplasia, Thin ribs |
OMIM:614833 |
Autosomal Recessive Kenny-Caffey Syndrome |
|
Thin clavicles, Delayed cranial suture closure, Thin ribs |
ORPHA:93324 |
Oculocerebrofacial Syndrome, Kaufman Type |
|
Respiratory distress, Dyspnea, Respiratory failure |
ORPHA:2707 |
Kenny-Caffey Syndrome, Type 1 |
|
Thin clavicles, Long clavicles, Delayed closure of the anterior fontanelle, Thin ribs |
OMIM:244460 |
Mucopolysaccharidosis, Type Iiid |
|
Thoracic scoliosis, Thickened ribs, Pilonidal sinus, Short neck, Ovoid thoracolumbar vertebrae, E... |
OMIM:252940 |
Waardenburg Syndrome, Type 1 |
|
Spina bifida, Myelomeningocele, Supernumerary ribs, Supernumerary vertebrae, Sprengel anomaly |
OMIM:193500 |
Kagami-Ogata Syndrome |
|
Kyphoscoliosis, Short neck, Large placenta, Bell-shaped thorax, Coat hanger sign of ribs, Thoraci... |
ORPHA:254519 |
Camptodactyly Syndrome, Guadalajara Type 3 |
|
Spina bifida occulta, Abnormal rib morphology, Short neck |
ORPHA:488434 |
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Hypoplastic scapulae, Ulnar deviation of the wrist, Tarsal synostosis, Craniosynostosis, Cubitus ... |
ORPHA:95699 |
Stuve-Wiedemann Syndrome 1 |
|
Death in infancy, Enlarged joints, Ovoid vertebral bodies, Short neck, Elbow flexion contracture,... |
OMIM:601559 |
Myotonic Dystrophy 1 |
|
Respiratory distress |
OMIM:160900 |
Coccidioidomycosis |
|
Respiratory distress, Pericarditis, Renal insufficiency, Abnormality of the kidney, Pneumonia, Ab... |
ORPHA:228123 |
Hereditary Orotic Aciduria |
|
Orotic acid crystalluria, Patent ductus arteriosus, Abnormality of the ureter, Aminoaciduria, Oro... |
ORPHA:30 |
Diphallia |
|
Ureteral duplication, Renal malrotation, Hypospadias, Distal urethral duplication, Epispadias, Pe... |
ORPHA:227 |
Familial Visceral Myopathy |
|
Hydroureter, Camptodactyly of finger, Aplasia/Hypoplasia of the abdominal wall musculature, Megac... |
ORPHA:2604 |
Toxic Epidermal Necrolysis |
|
Respiratory distress, Renal insufficiency, Dysuria, Abnormality of the urethra, Restrictive venti... |
ORPHA:537 |
Atypical Werner Syndrome |
|
Skeletal muscle atrophy, Renal neoplasm, Aortic valve calcification, Abnormal thorax morphology, ... |
ORPHA:79474 |
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs |
|
Respiratory distress |
ORPHA:226313 |
Heart Defects, Congenital, And Other Congenital Anomalies |
|
Ureteral duplication, Double outlet left ventricle, Ventricular septal defect, Congenital diaphra... |
OMIM:600001 |
Chromosome 19Q13.11 Deletion Syndrome, Proximal |
|
Vesicoureteral reflux, Hydroureter, Nephrolithiasis |
OMIM:617219 |
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome |
|
Pectus excavatum, Lumbar hemivertebrae, Thin ribs |
ORPHA:2463 |
Oculocerebrocutaneous Syndrome |
|
Congenital hip dislocation, Abnormal rib morphology, Congenital diaphragmatic hernia, Missing ribs |
ORPHA:1647 |
Bladder Exstrophy |
|
Recurrent urinary tract infections, Hypoplasia of penis, Epispadias, Abnormality of the ureter, V... |
ORPHA:93930 |
Craniotubular Dysplasia, Ikegawa Type |
|
Optic neuropathy, Increased intervertebral space, Optic atrophy, Platyspondyly, Broad ribs, Optic... |
OMIM:619727 |
Van Den Ende-Gupta Syndrome |
|
Sacral dimple, Hypoplastic scapulae, Glenoid fossa hypoplasia, Craniosynostosis, Lateral clavicle... |
OMIM:600920 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Respiratory distress, Long clavicles, Contracture of the distal interphalangeal joint of the fing... |
ORPHA:83617 |
Lujo Hemorrhagic Fever |
|
Respiratory distress, Renal insufficiency, Crackles, Myocarditis, Nonproductive cough, Oliguria, ... |
ORPHA:319213 |
Hallermann-Streiff Syndrome |
|
Spina bifida, Hyperlordosis, Pectus excavatum, Optic disc coloboma, Thin ribs, Abnormal rib cage ... |
OMIM:234100 |
Vici Syndrome |
|
Renal tubular acidosis, Cardiomyopathy, Ureteral atresia, Death in infancy |
ORPHA:1493 |
Listeriosis |
|
Respiratory distress, Pericarditis, Miscarriage, Pneumonia, Myocarditis, Rhabdomyolysis, Endocard... |
ORPHA:533 |
Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Short neck, Lateral clavicle hook, Wide anterior fontanel, Long thorax, Narrow chest, Short ribs,... |
OMIM:617925 |
Generalized Arterial Calcification Of Infancy |
|
Ventricular hypertrophy, Abnormality of the knee, Hyperphosphaturia, Calcification of the auricul... |
ORPHA:51608 |
Schinzel-Giedion Midface Retraction Syndrome |
|
Long clavicles, Ureteral stenosis, Hypospadias, Hydroureter, Wormian bones, Metopic suture patent... |
OMIM:269150 |
Noonan Syndrome 9 |
|
Hydroureter, Ventricular septal defect, Pulmonic stenosis |
OMIM:616559 |
Livedoid Vasculopathy |
|
Venous insufficiency, Varicose veins, Abnormal capillary morphology, Ischemic stroke |
ORPHA:542643 |
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay |
|
Renal insufficiency, Renal agenesis, Congenital diaphragmatic hernia, Ectopic kidney, Unilateral ... |
OMIM:617641 |
Pfeiffer Syndrome Type 3 |
|
Respiratory distress, Tracheomalacia, Horseshoe kidney, Vesicoureteral reflux, Hydronephrosis |
ORPHA:93260 |
Cardiac Valvular Dysplasia 1 |
|
Hydroureter, Ventricular septal defect, Left atrial enlargement, Tricuspid stenosis, Valvular pul... |
OMIM:212093 |
Hemorrhagic Fever-Renal Syndrome |
|
Respiratory distress, Anuria, Proteinuria, Glomerulonephritis, Pneumonia, Epistaxis, Dyspnea, Chr... |
ORPHA:340 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Renal insufficiency, Situs inversus totalis, Patent ductus arteriosus, Ureteral atresia, Stage 5 ... |
OMIM:208540 |
Cloacal Exstrophy |
|
Hypoplasia of penis, Hydroureter, Ectopic kidney, Renal hypoplasia/aplasia, Hemivertebrae, Hip di... |
ORPHA:93929 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Respiratory distress, Glomerulopathy, Renal insufficiency, Ketonuria, Pulmonary embolism, Hemolyt... |
ORPHA:79282 |
Mandibulofacial Dysostosis, Guion-Almeida Type |
|
Atrial septal defect, Ventricular septal defect, Respiratory distress |
OMIM:610536 |
Foix-Alajouanine Syndrome |
|
Arteriovenous fistula, Venous malformation |
ORPHA:79093 |
Osteoglophonic Dysplasia |
|
Respiratory distress, Hypoplastic scapulae, Hypospadias, Camptodactyly of finger, Craniosynostosi... |
OMIM:166250 |
Mucopolysaccharidosis Type 3 |
|
Abnormal clavicle morphology, Cardiomegaly, Heparan sulfate excretion in urine, Flexion contractu... |
ORPHA:581 |
Peutz-Jeghers Syndrome |
|
Renal cell carcinoma, Abnormality of the ureter, Multiple renal cysts |
ORPHA:2869 |
Alagille Syndrome 1 |
|
Duplicated collecting system, Ventricular septal defect, Multiple small medullary renal cysts, Ab... |
OMIM:118450 |
Pagod Syndrome |
|
Abnormal clavicle morphology, Multicystic kidney dysplasia, Death in infancy, Congenital diaphrag... |
ORPHA:991 |
Ulbright-Hodes Syndrome |
|
Abnormal penis morphology, Respiratory distress, Humeroradial synostosis, Abnormal rib morphology... |
ORPHA:3404 |
Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
11 pairs of ribs, Short neck, Cupped ribs, Horizontal inferior border of scapula, Flat acetabular... |
OMIM:250220 |
Weill-Marchesani Syndrome 1 |
|
Broad ribs, Lumbar hyperlordosis, Spinal canal stenosis, Scoliosis |
OMIM:277600 |
Infantile Krabbe Disease |
|
Ankle clonus, Respiratory failure, Shoulder girdle muscle weakness, Respiratory distress |
ORPHA:206436 |
Prader-Willi Syndrome Due To Translocation |
|
Respiratory distress, Abnormality of the kidney, Patent ductus arteriosus, Abnormal heart morphol... |
ORPHA:177907 |
Fryns Syndrome |
|
Ureteral duplication, Ventricular septal defect, Hypospadias, Renal agenesis, Renal cyst, Thin ri... |
OMIM:229850 |
Hemihyperplasia-Multiple Lipomatosis Syndrome |
|
Abnormal venous morphology, Abnormal cerebral vascular morphology |
ORPHA:276280 |
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome |
|
Abnormality of the ureter, Hyperlordosis |
ORPHA:3253 |
Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Respiratory distress, Proteinuria, Hemolytic-uremic syndrome, Microscopic hematuria, Abnormal ren... |
OMIM:274150 |
Colchicine Poisoning |
|
Respiratory distress, Renal insufficiency, Myocarditis, Oliguria, Cardiorespiratory arrest |
ORPHA:31824 |
Thymic Neuroendocrine Tumor |
|
Abnormal vena cava morphology, Prominent veins on trunk |
ORPHA:97289 |
Hypouricemia, Renal, 1 |
|
Proteinuria, Urolithiasis, Oliguria, Renal tubular epithelial necrosis, Hyperuricosuria, Renal co... |
OMIM:220150 |
Mitochondrial Dna-Associated Leigh Syndrome |
|
Multiple glomerular cysts, Apnea, Hyperventilation, Dyspnea, Dilated cardiomyopathy, Ragged-red m... |
ORPHA:255210 |
Renal Nutcracker Syndrome |
|
Varicose veins, Vulval varicose vein, Renal artery stenosis, Dilatation of mesenteric artery |
ORPHA:71273 |
Japanese Encephalitis |
|
Respiratory distress, Skeletal muscle atrophy, Genu recurvatum, Facial palsy, Elbow flexion contr... |
ORPHA:79139 |
Oromandibular Dystonia |
|
Respiratory distress |
ORPHA:93958 |
Gitelman Syndrome |
|
Respiratory distress, Proteinuria, Urinary incontinence, Decreased urinary potassium, Pericardial... |
ORPHA:358 |
Renal Agenesis |
|
Renal insufficiency, Renal agenesis, Ventricular septal defect, Unilateral renal agenesis, Protei... |
ORPHA:411709 |
Cocaine Intoxication |
|
Respiratory distress, Proteinuria, Glomerulonephritis, Wheezing, Rhabdomyolysis, Tachypnea, Pneum... |
ORPHA:90068 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Broad clavicles, Humeroradial synostosis, Hemivertebrae, Elbow flexion contracture, Knee flexion ... |
OMIM:151050 |
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations |
|
Hypoplasia of the bladder, Hydroureter, Bicuspid aortic valve, Craniosynostosis, Valvular pulmona... |
OMIM:300707 |
Alpha-Mannosidosis, Infantile Form |
|
Optic disc pallor, Thickened ribs, Craniosynostosis, Short neck, Pectus excavatum, Pectus carinat... |
ORPHA:309282 |
Fibrous Dysplasia Of Bone |
|
Abnormal clavicle morphology, Abnormal rib morphology, Abnormal lumbar spine morphology, Scoliosi... |
ORPHA:249 |
Myhre Syndrome |
|
Abnormal penis morphology, Hypospadias, Epispadias, Abnormal rib morphology, Skeletal muscle hype... |
ORPHA:2588 |
Premature Aging Syndrome, Penttinen Type |
|
Hyperextensibility of the knee, Thin ribs, Cervical ribs, Scoliosis, Wormian bones, Flexion contr... |
OMIM:601812 |
Wolfram Syndrome 1 |
|
Cardiomyopathy, Neurogenic bladder, Hydroureter, Hydronephrosis |
OMIM:222300 |
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis |
|
Respiratory distress |
OMIM:606164 |
3-Methylglutaconic Aciduria, Type Viib |
|
Respiratory distress, 3-Methylglutaconic aciduria, Flexion contracture, Recurrent pneumonia |
OMIM:616271 |
Wolfram Syndrome, Mitochondrial Form |
|
Hydroureter, Hydronephrosis |
OMIM:598500 |
Familial Idiopathic Dilatation Of The Right Atrium |
|
Abnormal jugular vein morphology, Cardiomegaly, Right atrial enlargement, Abnormal vena cava morp... |
ORPHA:1677 |
Idiopathic Hypereosinophilic Syndrome |
|
Respiratory distress, Skeletal muscle atrophy, Ankle swelling, Pulmonary embolism, Dyspnea, Asthm... |
ORPHA:3260 |
Lymphedema-Distichiasis Syndrome |
|
Varicose veins, Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect |
OMIM:153400 |
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria |
|
Respiratory distress, Enlargement of the ankles, Multiple joint contractures, Unilateral renal ag... |
ORPHA:99646 |
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Flexion contracture, Hemivertebrae, Narrow chest, Atrial septal defect, Interphalangeal joint con... |
ORPHA:96334 |
Khan-Khan-Katsanis Syndrome |
|
Ureteral duplication, Patent ductus arteriosus after premature birth, Delayed closure of the ante... |
OMIM:618460 |
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome |
|
Respiratory distress, Renal insufficiency, Neonatal respiratory distress, Proteinuria, Respirator... |
OMIM:614748 |
Meckel Syndrome 12 |
|
Ureteral hypoplasia, Antecubital pterygium, Renal hypoplasia, Bilateral renal agenesis, Arthrogry... |
OMIM:616258 |
Nocardiosis |
|
Respiratory distress, Pericarditis, Abnormal heart valve morphology, Pneumonia, Productive cough,... |
ORPHA:31204 |
Polymicrogyria With Or Without Vascular-Type Ehlers-Danlos Syndrome |
|
Varicose veins, Pulmonic stenosis, Vascular dilatation, Aortic dissection |
OMIM:618343 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome |
|
Hydroureter, Patent foramen ovale, Patent ductus arteriosus, Hypertrophy of the urinary bladder, ... |
ORPHA:280633 |
Rubinstein-Taybi Syndrome 1 |
|
Respiratory distress, Ventricular septal defect, Hypospadias, Pectus excavatum, Patent ductus art... |
OMIM:180849 |
Myhre Syndrome |
|
Vertebral fusion, Short neck, Enlarged vertebral pedicles, Platyspondyly, Broad ribs |
OMIM:139210 |
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome |
|
Abnormal vena cava morphology, Ventricular septal defect |
ORPHA:166035 |
Ciliary Dyskinesia, Primary, 20 |
|
Atrial situs inversus, Ventricular septal defect, Dextrocardia, Situs inversus totalis, Pulmonary... |
OMIM:615067 |
Mandibuloacral Dysplasia Progeroid Syndrome |
|
Mitral valve calcification, Proteinuria, Pectus excavatum, Flexion contracture, Thin ribs, Genu v... |
OMIM:619127 |
Biotinidase Deficiency |
|
Respiratory distress, Apnea, Organic aciduria, Limb muscle weakness, Hyperventilation |
ORPHA:79241 |
Caudal Duplication Anomaly |
|
Ureteral duplication |
OMIM:607864 |
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1 |
|
Joint dislocation, Congenital hip dislocation, Protrusio acetabuli, Kyphoscoliosis, Thin ribs, Pl... |
OMIM:225400 |
Rodrigues Blindness |
|
Nasal flaring |
OMIM:268320 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1 |
|
Renal dysplasia, Ureteral duplication, Ureteral hypoplasia, Congenital diaphragmatic hernia, Blad... |
OMIM:614080 |
Autosomal Dominant Spastic Paraplegia Type 10 |
|
Varicose veins |
ORPHA:100991 |
Ureter, Bifid Or Double |
|
Ureteral duplication |
OMIM:191550 |
Beare-Stevenson Cutis Gyrata Syndrome |
|
Respiratory distress, Limited elbow extension, Hypospadias, Craniosynostosis |
OMIM:123790 |
Alg9-Cdg |
|
Hypoplasia of the bladder, Torticollis, Prominent metopic ridge, Ventricular septal defect, Urete... |
ORPHA:79328 |
Mandibulofacial Dysostosis With Alopecia |
|
Hydroureter, Bicuspid aortic valve |
OMIM:616367 |
Smith-Lemli-Opitz Syndrome |
|
Ureteropelvic junction obstruction, Hypoplasia of penis, Multicystic kidney dysplasia, Ventricula... |
ORPHA:818 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome |
|
Death in infancy, Multicystic kidney dysplasia, Hydroureter, Neoplasm of the heart, Megacystis |
ORPHA:2241 |
Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Mitral valve prolapse, Varicos... |
OMIM:602782 |
Eisenmenger Syndrome |
|
Respiratory distress, Renal insufficiency, Ventricular septal defect, Increased pulmonary vascula... |
ORPHA:97214 |
Tuberous Sclerosis Complex |
|
Respiratory distress, Renal insufficiency, Abnormality of the kidney, Chronic kidney disease, Sta... |
ORPHA:805 |
Restrictive Dermopathy 1 |
|
Ureteral duplication, Limb joint contracture, Hypospadias, Kyphoscoliosis, Thin clavicles, Patent... |
OMIM:275210 |
Ethylene Glycol Poisoning |
|
Renal insufficiency, Facial palsy, Abnormal pattern of respiration, Tachypnea, Episodic respirato... |
ORPHA:31826 |
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi |
|
Venous malformation |
OMIM:612918 |
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects |
|
Hydroureter, Ventricular septal defect, Bicuspid aortic valve, Limited elbow movement, Delayed cl... |
OMIM:610759 |
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome |
|
Respiratory distress, Craniosynostosis |
ORPHA:1555 |
Primary Hyperoxaluria Type 2 |
|
Hyperoxaluria, Renal insufficiency, Recurrent urinary tract infections, Nephrolithiasis, Nephroca... |
ORPHA:93599 |
Castleman Disease |
|
Renal insufficiency, Dyspnea, Hematuria, Cough, Restrictive cardiomyopathy, Ureteral obstruction |
ORPHA:160 |
Autosomal Recessive Malignant Osteopetrosis |
|
Apnea, Abnormal pulmonary valve morphology, Craniosynostosis, Abnormal rib morphology, Narrow che... |
ORPHA:667 |
Spondyloepimetaphyseal Dysplasia, X-Linked |
|
Lumbar hyperlordosis, Hypoplasia of the odontoid process, Kyphosis, Limited elbow extension, Genu... |
OMIM:300106 |
Methylmalonic Aciduria, Cbla Type |
|
Respiratory distress, Ketonuria, Elevated urine 3-hydroxypropionic acid level, Methylmalonic acid... |
OMIM:251100 |
46,Xx Difference Of Sex Development-Anorectal Anomalies Syndrome |
|
Multicystic kidney dysplasia, Hydroureter, Renal hypoplasia/aplasia, Abnormality of the urethra, ... |
ORPHA:2973 |
Hereditary Angioedema Type 1 |
|
Respiratory distress, Dyspnea, Inspiratory stridor |
ORPHA:100050 |
Ventriculomegaly With Defects Of The Radius And Kidney |
|
Ureteral duplication, Renal agenesis, Horseshoe kidney, Ectopic kidney |
OMIM:602200 |
Neurofacioskeletal Syndrome With Or Without Renal Agenesis |
|
Hip contracture, Hydroureter, Unilateral renal agenesis, Pectus excavatum, Prominent crus of heli... |
OMIM:619194 |
Cranioectodermal Dysplasia 2 |
|
Renal insufficiency, Craniosynostosis, Pectus excavatum, Patent ductus arteriosus, Recurrent pneu... |
OMIM:613610 |
Fraser Syndrome 2 |
|
Renal agenesis, Unilateral renal agenesis, Short thorax, Renal hypoplasia, Ureteral agenesis, Res... |
OMIM:617666 |
Trisomy 18 |
|
Ventricular septal defect, Camptodactyly of finger, Congenital diaphragmatic hernia, Abnormality ... |
ORPHA:3380 |
Restrictive Dermopathy |
|
Thoracic kyphoscoliosis, Aplasia/Hypoplasia of the clavicles, Multiple joint contractures, Ureter... |
ORPHA:1662 |
Auriculocondylar Syndrome |
|
Respiratory distress, Abnormality of the crus of the helix |
ORPHA:137888 |
Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
|
Barrel-shaped chest, Pilonidal sinus, Occipital meningocele, Aplasia/Hypoplasia involving the car... |
OMIM:276820 |
Oculocerebrorenal Syndrome Of Lowe |
|
Oligosacchariduria, Nephrocalcinosis, Aminoaciduria, Glomerulopathy, Death in infancy, Abnormal r... |
ORPHA:534 |
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Torticollis, Hypospadias, Craniosynostosis, Pectus excavatum, Hip dislocation, Undulate ribs, Hor... |
OMIM:609945 |
Heterotaxy, Visceral, 5, Autosomal |
|
Ureteral duplication, Right atrial isomerism, Ureteral stenosis, Ventricular septal defect, Dextr... |
OMIM:270100 |
Proteus-Like Syndrome |
|
Venous insufficiency |
ORPHA:2969 |
Ramos-Arroyo Syndrome |
|
Atrial septal defect, Patent ductus arteriosus, Respiratory distress |
ORPHA:1051 |
Igg4-Related Kidney Disease |
|
Pericarditis, Renal insufficiency, Proteinuria, Renal interstitial immunoglobulin deposits, Urina... |
ORPHA:449395 |
Gracile Bone Dysplasia |
|
Death in infancy, Micropenis, Thin ribs |
OMIM:602361 |
Methylmalonic Aciduria, Cblb Type |
|
Respiratory distress, Ketonuria, Methylmalonic aciduria |
OMIM:251110 |
Microphthalmia With Linear Skin Defects Syndrome |
|
Abnormal penis morphology, Respiratory distress, Hypospadias, Congenital diaphragmatic hernia, Ep... |
ORPHA:2556 |
Sepsis In Premature Infants |
|
Abnormal mucociliary clearance, Dyspnea, Nasal flaring, Abnormal respiratory system physiology, O... |
ORPHA:90051 |
Lymphedema-Distichiasis Syndrome |
|
Varicose veins, Patent ductus arteriosus |
ORPHA:33001 |
Oeis Complex |
|
11 pairs of ribs, Duplicated collecting system, Hydroureter, Renal agenesis, Congenital hip dislo... |
OMIM:258040 |
Toriello-Lacassie-Droste Syndrome |
|
Abnormal penis morphology, Hypospadias, Epispadias, Abnormality of the ureter, Abnormality of the... |
ORPHA:3339 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3 |
|
Hydroureter, Megacystis, Fetal megacystis, Neonatal death, Hydronephrosis |
OMIM:619362 |
Alternating Hemiplegia Of Childhood |
|
Respiratory distress, Facial hypotonia, Apnea, Cardiomyopathy, Aspiration |
ORPHA:2131 |
Doors Syndrome |
|
11 pairs of ribs, Increased urine alpha-ketoglutarate concentration, Respiratory distress, Sagitt... |
ORPHA:79500 |
Raine Syndrome |
|
Death in infancy, Hydroureter, Pectus excavatum, Neonatal death, Arthrogryposis multiplex congeni... |
OMIM:259775 |
Townes-Brocks Syndrome |
|
Hypoplasia of penis, Renal insufficiency, Hypospadias, Abnormal pulmonary valve morphology, Abnor... |
ORPHA:857 |
Fetal Akinesia Deformation Sequence 1 |
|
Hip contracture, Camptodactyly of finger, Short neck, Thin ribs, Stillbirth, Short umbilical cord... |
OMIM:208150 |
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies |
|
Hyperlordosis, Hip dislocation, Genu valgum, Umbilical hernia, Broad ribs, Limited elbow extension |
OMIM:301066 |
Mucopolysaccharidosis Type 2, Severe Form |
|
Papilledema, Otosclerosis, Thickened ribs, Camptodactyly of finger, Optic atrophy, Spinal canal s... |
ORPHA:217085 |
Xylt1-Cdg |
|
Joint dislocation, Broad ribs, Short clavicles |
ORPHA:370930 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Respiratory distress, Myositis, Pneumonia, Tubulointerstitial nephritis, Nephrotic syndrome, Memb... |
ORPHA:37042 |
Osteopetrosis, Autosomal Recessive 7 |
|
Multiple rib fractures, Death in infancy, Optic atrophy, Death in childhood, Optic nerve compression |
OMIM:612301 |
X-Linked Intellectual Disability, Nascimento Type |
|
Mitral stenosis, Ventricular septal defect, Patent ductus arteriosus, Abnormal vena cava morpholo... |
ORPHA:163956 |
Congenital Disorder Of Deglycosylation 1 |
|
Respiratory distress, Facial hypotonia, Heparan sulfate excretion in urine, Intrinsic hand muscle... |
OMIM:615273 |
Junctional Epidermolysis Bullosa With Pyloric Atresia |
|
Urethral stricture, Urinary bladder inflammation, Hydronephrosis, Hematuria, Aplasia of the bladd... |
ORPHA:79403 |
Weill-Marchesani Syndrome 2 |
|
Lumbar hyperlordosis, Elbow flexion contracture, Spinal canal stenosis, Umbilical hernia, Scolios... |
OMIM:608328 |
Monosomy 9P |
|
Abnormality of the vertebral column, Abnormal rib morphology, Scoliosis, Short neck |
ORPHA:261112 |
Mucopolysaccharidosis Type 2, Attenuated Form |
|
Papilledema, Otosclerosis, Thickened ribs, Camptodactyly of finger, Optic atrophy, Spinal canal s... |
ORPHA:217093 |
Charge Syndrome |
|
Facial palsy, Patent ductus arteriosus, Abnormal rib morphology, Hemivertebrae, Horseshoe kidney,... |
ORPHA:138 |
Meckel Syndrome, Type 1 |
|
Hypoplasia of the bladder, Renal agenesis, Camptodactyly of finger, Patent ductus arteriosus, Abn... |
OMIM:249000 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation |
|
Respiratory distress, Facial hypotonia |
ORPHA:438216 |
Classical-Like Ehlers-Danlos Syndrome Type 2 |
|
Carotid artery stenosis, Pericardial effusion, Prominent veins on trunk, Mitral valve prolapse, V... |
ORPHA:536532 |
Epidermolysis Bullosa Simplex With Pyloric Atresia |
|
Renal dysplasia, Abnormality of the urethra, Flexion contracture, Aplasia of the bladder, Abnorma... |
ORPHA:158684 |
Pachyonychia Congenita |
|
Respiratory distress |
ORPHA:2309 |
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly |
|
Ureteral duplication, Prominent metopic ridge, Craniosynostosis, Short thorax, Stage 5 chronic ki... |
OMIM:266920 |
Pfeiffer Syndrome Type 2 |
|
Respiratory distress, Tracheomalacia |
ORPHA:93259 |
Atresia Of Urethra |
|
Renal dysplasia, Renal insufficiency, Bladder fistula, Hydroureter, Recurrent urinary tract infec... |
ORPHA:105 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 1 |
|
Hydroureter, Fetal megacystis |
OMIM:249210 |
Cryptococcosis |
|
Respiratory distress, Pneumonia, Dyspnea, Cough, Pleural effusion |
ORPHA:1546 |
Menkes Disease |
|
Venous insufficiency, Arterial stenosis, Intracranial hemorrhage, Abnormal carotid artery morphol... |
ORPHA:565 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Prominent superficial veins, Cor triatriatum, Secundum atrial septal defect, Patent ductus arteri... |
OMIM:612541 |
Meige Disease |
|
Varicose veins |
ORPHA:90186 |
Stüve-Wiedemann Syndrome |
|
Respiratory distress, Apnea, Camptodactyly of finger, Asthma, Flexion contracture, Elbow flexion ... |
ORPHA:3206 |
Baraitser-Winter Cerebrofrontofacial Syndrome |
|
Prominent metopic ridge, Hydroureter, Abnormality of the upper urinary tract, Scoliosis, Osteocho... |
ORPHA:2995 |
Lymphatic Malformation 6 |
|
Atrial septal defect, Varicose veins, Intestinal lymphangiectasia |
OMIM:616843 |
Microcephaly 20, Primary, Autosomal Recessive |
|
Ureteral agenesis, Hyperechogenic kidneys, Bilateral renal agenesis, Renal hypoplasia |
OMIM:617914 |
Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Renal insufficiency, Hypospadias, Urolithiasis, Gout, Hyperuricosuria, Death in childhood, Uric a... |
OMIM:300661 |
Bladder Exstrophy And Epispadias Complex |
|
Hydroureter, Unilateral renal agenesis, Epispadias, Horseshoe kidney, Bladder exstrophy |
OMIM:600057 |
Hereditary Acrokeratotic Poikiloderma |
|
Camptodactyly of finger, Abnormal preputium morphology, Abnormality of the urethra, Abnormal rib ... |
ORPHA:2907 |
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Respiratory distress, Death in infancy, 4-hydroxyphenylacetic aciduria, 4-Hydroxyphenylpyruvic ac... |
OMIM:617156 |
Familial Cerebral Cavernous Malformation |
|
Venous malformation, Cerebral hemorrhage |
ORPHA:221061 |
Penile Agenesis |
|
Urethral atresia, male, Ventricular septal defect, Hydroureter, Fetal pyelectasis, Bilateral rena... |
ORPHA:49 |
Ureterocele |
|
Duplicated collecting system, Ureterocele |
OMIM:191650 |
Fanconi Anemia |
|
Recurrent urinary tract infections, Hydroureter, Hypospadias, Renal insufficiency, Renal hypoplas... |
ORPHA:84 |
Cockayne Syndrome Type 3 |
|
Skeletal muscle atrophy, Renal insufficiency, Neurogenic bladder, Hydroureter, Unilateral renal a... |
ORPHA:90324 |
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability |
|
Respiratory distress, Congenital hip dislocation, Thoracolumbar scoliosis, Patent ductus arterios... |
ORPHA:480880 |
Sotos Syndrome |
|
Ureteral duplication, Flexion contracture, Vesicoureteral reflux, Atrial septal defect, Abnormal ... |
ORPHA:821 |
Nephrogenic Diabetes Insipidus |
|
Renal insufficiency, Hydroureter, Functional abnormality of the bladder, Enuresis nocturna, Hypos... |
ORPHA:223 |
Eiken Syndrome |
|
Broad ribs, Delayed ossification of carpal bones, Flat acetabular roof |
OMIM:600002 |
Adnp Syndrome |
|
Respiratory distress, Aspiration, Recurrent urinary tract infections, Urinary incontinence |
ORPHA:404448 |
Hardikar Syndrome |
|
Hypoplasia of the bladder, Renal insufficiency, Recurrent urinary tract infections, Ventricular s... |
OMIM:301068 |
Chromosome 17Q12 Deletion Syndrome |
|
Hypoplasia of the bladder, Recurrent urinary tract infections, Multicystic kidney dysplasia, Unil... |
OMIM:614527 |
Charge Syndrome |
|
Overriding aorta, Ventricular septal defect, Facial palsy, Down-sloping shoulders, Renal agenesis... |
OMIM:214800 |
Fraser Syndrome 3 |
|
Hypoplasia of the bladder, Hypoplasia of penis, Ureteral agenesis, Bilateral renal agenesis, Stil... |
OMIM:617667 |
Isolated Arrhinia |
|
Respiratory distress, Absent nasal septal cartilage |
ORPHA:1134 |
Beckwith-Wiedemann Syndrome |
|
Ureteral duplication, Prominent metopic ridge, Diastasis recti, Rhabdomyosarcoma, Congenital diap... |
ORPHA:116 |
Peutz-Jeghers Syndrome |
|
Abnormality of the ureter, Bladder polyp |
OMIM:175200 |
Leptospirosis |
|
Respiratory distress, Pericarditis, Cellular urinary casts, Rhabdomyolysis, Cough, Pleural effusi... |
ORPHA:509 |
Kindler Epidermolysis Bullosa |
|
Urethral stricture, Camptodactyly of finger, Phimosis, Flexion contracture, Abnormal rib morpholo... |
ORPHA:2908 |
Kasabach-Merritt Syndrome |
|
Respiratory distress, Hypopnea |
ORPHA:2330 |
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii |
|
Abnormally ossified vertebrae, Hydroureter, Abnormality of the kidney, Abnormality of the upper u... |
ORPHA:2636 |
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome |
|
Dilatation of renal calices, Asthma, Pelvic kidney, Nasal flaring |
ORPHA:466943 |
Coffin-Siris Syndrome 1 |
|
Hydroureter, Ventricular septal defect, Hypospadias, Congenital diaphragmatic hernia, Ectopic kid... |
OMIM:135900 |
22Q11.2 Deletion Syndrome |
|
Ventricular septal defect, Abnormal pulmonary valve morphology, Retinal arteriolar tortuosity, Pa... |
ORPHA:567 |
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type) |
|
Respiratory distress, Skeletal muscle atrophy |
OMIM:256810 |
Thauvin-Robinet-Faivre Syndrome |
|
Varicose veins, Ventricular septal defect, Mitral valve prolapse |
OMIM:617107 |
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum |
|
Abnormal penis morphology, Respiratory distress, Respiratory failure requiring assisted ventilati... |
ORPHA:95455 |
Telangiectasia, Hereditary Hemorrhagic, Type 1 |
|
Hepatic arteriovenous malformation, Transient ischemic attack, Pulmonary arteriovenous malformati... |
OMIM:187300 |
Osteopetrosis With Renal Tubular Acidosis |
|
Pectus excavatum, Proximal renal tubular acidosis, Nephrolithiasis, Renal tubular acidosis, Pulmo... |
ORPHA:2785 |
H Syndrome |
|
Varicose veins |
ORPHA:168569 |
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome |
|
Varicose veins, Abnormal right ventricle morphology, Ventricular septal defect, Mitral valve prol... |
ORPHA:500095 |
Diarrhea 3, Secretory Sodium, Congenital, With Or Without Other Congenital Anomalies |
|
Ureteral duplication, Renal duplication |
OMIM:270420 |
17Q12 Microdeletion Syndrome |
|
Renal insufficiency, Multicystic kidney dysplasia, Ureterocele, Renal hypoplasia/aplasia |
ORPHA:261265 |
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked |
|
Respiratory distress, Rhinitis |
OMIM:305100 |
Occipital Horn Syndrome |
|
Venous insufficiency, Vascular dilatation |
ORPHA:198 |
Plague |
|
Respiratory distress, Abnormality of the elbow, Endocarditis, Acute infectious pneumonia, Arthritis |
ORPHA:707 |
Bardet-Biedl Syndrome 12 |
|
Hydronephrosis, Hydroureter, Cystic renal dysplasia |
OMIM:615989 |
Peters-Plus Syndrome |
|
Ureteral duplication, Ventricular septal defect, Diastasis recti, Hypospadias, Limited elbow move... |
OMIM:261540 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5 |
|
Hydroureter, Megacystis, Hydronephrosis |
OMIM:619431 |
White-Kernohan Syndrome |
|
Metopic synostosis, Hydroureter, Hydronephrosis, Horseshoe kidney |
OMIM:619426 |
Focal Dermal Hypoplasia |
|
Ureteral duplication, Congenital hip dislocation, Diastasis recti, Congenital diaphragmatic herni... |
OMIM:305600 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3 |
|
Renal dysplasia, Duplicated collecting system, Hydroureter, Renal agenesis, Urethral stenosis, Me... |
OMIM:604292 |
Microphthalmia With Limb Anomalies |
|
Venous insufficiency |
ORPHA:1106 |
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Mitral valve calcification, Aortic valve calcification, Calcification of the aorta, Varicose vein... |
ORPHA:2072 |
Wiedemann-Rautenstrauch Syndrome |
|
Hypospadias, Pneumonia, Delayed closure of the anterior fontanelle, Secundum atrial septal defect... |
OMIM:264090 |
Mckusick-Kaufman Syndrome |
|
Congenital hip dislocation, Hydroureter, Polycystic kidney dysplasia, Vesicovaginal fistula, Hydr... |
OMIM:236700 |
Microphthalmia, Syndromic 1 |
|
Hydroureter, Bicuspid aortic valve, Down-sloping shoulders, Hypospadias, Renal hypoplasia/aplasia... |
OMIM:309800 |
Peters Plus Syndrome |
|
Ureteral duplication, Multicystic kidney dysplasia, Hypospadias, Renal hypoplasia/aplasia, Patent... |
ORPHA:709 |
Alström Syndrome |
|
Respiratory distress, Thoracic scoliosis, Urinary incontinence, Functional abnormality of the bla... |
ORPHA:64 |
Vascular Ehlers-Danlos Syndrome |
|
Peripheral arteriovenous fistula, Arterial dissection, Transient ischemic attack, Abnormal heart ... |
ORPHA:286 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1 |
|
Duplicated collecting system, Hydroureter, Renal agenesis, Hydronephrosis, Bladder diverticulum, ... |
OMIM:129900 |
Early Infantile Epileptic Encephalopathy |
|
Micropenis, Ventricular septal defect, Renal dysplasia, Ureterocele |
ORPHA:1934 |
Skin Creases, Congenital Symmetric Circumferential, 2 |
|
Pectus excavatum, Hypospadias, Ureterocele |
OMIM:616734 |
Scalp-Ear-Nipple Syndrome |
|
Ureteral duplication, Recurrent urinary tract infections, Abnormality of the kidney, Pyelonephrit... |
ORPHA:2036 |
Ehlers-Danlos Syndrome, Vascular Type |
|
Descending aortic dissection, Mitral valve prolapse, Varicose veins, Dilatation of the cerebral a... |
OMIM:130050 |
Pmm2-Cdg |
|
Respiratory distress, Pericarditis, Multiple joint contractures, Proteinuria, Kyphoscoliosis, Per... |
ORPHA:79318 |
Hypermobile Ehlers-Danlos Syndrome |
|
Venous insufficiency, Ascending tubular aorta aneurysm, Arterial dissection |
ORPHA:285 |
Meckel Syndrome |
|
Situs inversus totalis, Ureteral duplication, Multicystic kidney dysplasia, Urethral atresia |
ORPHA:564 |
Proboscis Lateralis |
|
Ventricular septal defect, Unilateral renal agenesis, Patent ductus arteriosus, Ureteral agenesis... |
ORPHA:141099 |
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
|
Hydroureter, Camptodactyly of finger, Abnormality of the upper urinary tract, Abnormality of the ... |
ORPHA:2273 |
Peroxisome Biogenesis Disorder 4B |
|
Ureterocele |
OMIM:614863 |
Progressive Essential Tremor-Speech Impairment-Facial Dysmorphism-Intellectual Disability-Abnormal Behavior Syndrome |
|
Duplication of renal pelvis, Ureteral duplication |
ORPHA:457212 |
Homozygous Familial Hypercholesterolemia |
|
Dyspnea, Tendon xanthomatosis, Renal steatosis, Abnormal tendon morphology, Renal artery stenosis... |
ORPHA:391665 |
Norrie Disease |
|
Venous insufficiency |
ORPHA:649 |
Chand Syndrome |
|
Hydroureter |
ORPHA:1401 |