Venous Malformations, Multiple Cutaneous And Mucosal |
|
Venous malformation |
OMIM:600195 |
Spondylocostal Dysostosis 2, Autosomal Recessive |
|
Vertebral segmentation defect, Rib fusion, Short neck, Vertebral clefting, Hemivertebrae |
OMIM:608681 |
Spondylocostal Dysostosis 3, Autosomal Recessive |
|
Hypoplasia of the odontoid process, Contracture of the proximal interphalangeal joint of the 2nd ... |
OMIM:609813 |
Spondylocostal Dysostosis 1, Autosomal Recessive |
|
Block vertebrae, Abnormal odontoid process morphology, Death in infancy, Vertebral segmentation d... |
OMIM:277300 |
Spondylocostal Dysostosis 5 |
|
Pectus carinatum, Butterfly vertebrae, Low back pain, Missing ribs, Short neck, Supernumerary rib... |
OMIM:122600 |
Autosomal Dominant Spondylocostal Dysostosis |
|
Short thorax, Vertebral segmentation defect, Missing ribs, Short neck, Hyperlordosis, Abnormal ri... |
ORPHA:1797 |
Aneurysm Of Interventricular Septum |
|
Vascular dilatation, Abnormal ventricular septum morphology |
OMIM:105805 |
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome |
|
Pectus carinatum, Radioulnar synostosis, Abnormal rib morphology, Scoliosis, Abnormality of the e... |
ORPHA:3268 |
Poland Syndrome |
|
Hypoplasia of latissimus dorsi muscle, Absence of pectoralis minor muscle, Hypoplasia of deltoid ... |
OMIM:173800 |
Becker Nevus Syndrome |
|
Pectus carinatum, Rib fusion, Supernumerary ribs, Pectus excavatum, Spina bifida occulta, Scolios... |
ORPHA:64755 |
Spondylocostal Dysostosis 4, Autosomal Recessive |
|
Block vertebrae, Myelomeningocele, Abnormal odontoid process morphology, Bell-shaped thorax, Vert... |
OMIM:613686 |
Emphysema, Congenital Lobar |
|
Respiratory distress |
OMIM:130710 |
Heart Defects-Limb Shortening Syndrome |
|
Narrow chest, Abnormal form of the vertebral bodies, Death in infancy, Abnormal rib morphology, K... |
ORPHA:1354 |
Endosteal Hyperostosis, Worth Type |
|
Sclerotic vertebral body, Abnormal form of the vertebral bodies, Clavicular sclerosis, Abnormal r... |
ORPHA:2790 |
Hypomyelination Neuropathy-Arthrogryposis Syndrome |
|
Respiratory distress |
ORPHA:2680 |
Tricuspid Atresia |
|
Hypoplasia of right ventricle, Patent foramen ovale, Ventricular septal defect, Persistent left s... |
ORPHA:1209 |
Brachyolmia, Maroteaux Type |
|
Platyspondyly, Abnormal form of the vertebral bodies, Short thorax, Pectus excavatum, Scoliosis |
ORPHA:93302 |
Autosomal Recessive Spondylocostal Dysostosis |
|
Abnormal form of the vertebral bodies, Short thorax, Camptodactyly of finger, Umbilical hernia, R... |
ORPHA:2311 |
Primary Basilar Invagination |
|
Abnormal vertebral morphology, Abnormality of the cervical spine, Short neck |
ORPHA:2285 |
Sprengel Deformity |
|
Rib segmentation abnormalities, Sprengel anomaly, Hemivertebrae, Spina bifida occulta, Cervical s... |
OMIM:184400 |
Isolated Klippel-Feil Syndrome |
|
Abnormality of the vertebral column, Abnormal shoulder morphology, Abnormal cranial nerve morphol... |
ORPHA:2345 |
Muscular Hypertonia, Lethal |
|
Respiratory distress, Death in infancy |
OMIM:254120 |
Femoral-Facial Syndrome |
|
Vertebral segmentation defect, Rib fusion, Radioulnar synostosis, Sprengel anomaly, Abnormal rib ... |
ORPHA:1988 |
Autosomal Dominant Brachyolmia |
|
Platyspondyly, Increased vertebral height, Short thorax, Kyphoscoliosis |
ORPHA:93304 |
Kyphomelic Dysplasia |
|
Narrow chest, Abnormal form of the vertebral bodies, Undulate ribs, Missing ribs, Anterior rib cu... |
ORPHA:1801 |
Galactosialidosis |
|
Abnormal vertebral morphology, Abnormality of the vertebral column |
ORPHA:351 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3 |
|
Hypoplastic left heart, Unilateral renal agenesis, Bilateral renal agenesis, Death in infancy, Ve... |
OMIM:618845 |
Varicose Veins |
|
Varicose veins |
OMIM:192200 |
Acromesomelic Dysplasia, Maroteaux Type |
|
Vertebral wedging, Abnormal form of the vertebral bodies, Beaking of vertebral bodies, Sprengel a... |
ORPHA:40 |
Neurogenic Thoracic Outlet Syndrome |
|
Abnormal rib morphology |
ORPHA:100073 |
Humero-Radio-Ulnar Synostosis |
|
Abnormality of the ureter, Radioulnar synostosis, Elbow ankylosis, Abnormality of the upper urina... |
ORPHA:3266 |
Prune Belly Syndrome |
|
Congenital hip dislocation, Multicystic kidney dysplasia, Hydroureter, Recurrent urinary tract in... |
ORPHA:2970 |
Spondyloepiphyseal Dysplasia Tarda, Kohn Type |
|
Platyspondyly, Abnormality of the knee, Abnormality of the ankle, Abnormal vertebral morphology |
ORPHA:163665 |
Diaphanospondylodysostosis |
|
Enlarged thorax, Respiratory distress, Absent or minimally ossified vertebral bodies, Missing rib... |
ORPHA:66637 |
Developmental And Epileptic Encephalopathy 30 |
|
Respiratory distress, Death in infancy |
OMIM:616341 |
Stuve-Wiedemann Syndrome 2 |
|
Thoracic hypoplasia, Respiratory distress, Neonatal death, Death in adolescence, Stillbirth, Camp... |
OMIM:619751 |
Spondylometaphyseal Dysplasia, Axial |
|
Platyspondyly, Optic atrophy, Narrow chest, Thoracic hypoplasia, Anterior rib cupping, Scoliosis |
OMIM:602271 |
Cerebrofaciothoracic Dysplasia |
|
Narrow chest, Vertebral segmentation defect, Rib fusion, Short neck, Sprengel anomaly, Hemiverteb... |
ORPHA:1394 |
Pontine Tegmental Cap Dysplasia |
|
Ankle clonus, Rib fusion, Hemivertebrae, Facial palsy, Scoliosis |
OMIM:614688 |
Succinic Acidemia |
|
Respiratory distress |
OMIM:600335 |
Osteoarthritis With Mild Chondrodysplasia |
|
Platyspondyly, Hip osteoarthritis, Schmorl's node, Knee osteoarthritis, Beaking of vertebral bodi... |
OMIM:604864 |
Metatropic Dysplasia |
|
Narrow chest, Hypoplastic cervical vertebrae, Abnormal form of the vertebral bodies, Camptodactyl... |
ORPHA:2635 |
Spondylometaphyseal Dysplasia, A4 Type |
|
Platyspondyly, Flared, irregular rib ends |
ORPHA:168555 |
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature |
|
Peripheral arterial stenosis, Ventricular septal defect, Patent ductus arteriosus, Varicose veins |
OMIM:126320 |
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
|
Thin ribs, Block vertebrae, Supernumerary vertebrae, Short ribs, Missing ribs, Rib fusion, Short ... |
OMIM:271520 |
Spondylometaphyseal Dysplasia, Type A4 |
|
Platyspondyly, Pectus carinatum, Irregular patellae, Costochondral joint sclerosis, Enlargement o... |
OMIM:609052 |
Acropectorovertebral Dysplasia |
|
Abnormal vertebral morphology, Spina bifida occulta at L5, Synostosis of carpal bones, Spina bifi... |
OMIM:102510 |
Osteomesopyknosis |
|
Sclerotic vertebral body, Scoliosis, Abnormal form of the vertebral bodies, Kyphosis |
ORPHA:2777 |
Osteogenesis Imperfecta, Type Ix |
|
Platyspondyly, Pectus carinatum, Multiple rib fractures, Wormian bones, Pectus excavatum, Scolios... |
OMIM:259440 |
Thoracolaryngopelvic Dysplasia |
|
Bell-shaped thorax, Horizontal ribs, Short ribs, Irregular chondrocostal junctions, Scoliosis, Ir... |
OMIM:187760 |
Pomt1-Related Limb-Girdle Muscular Dystrophy R11 |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu... |
ORPHA:86812 |
Hypogonadism, Male, With Impaired Intellectual Development And Skeletal Anomalies |
|
Abnormality of the cervical spine, Superior rib anomalies |
OMIM:307500 |
Mesomelic Dysplasia, Kantaputra Type |
|
Abnormality of the ankle, Synostosis of carpal bones, Camptodactyly of finger, Vertebral segmenta... |
ORPHA:1836 |
Congenital Myopathy 10A, Severe Variant |
|
Increased variability in muscle fiber diameter, Camptodactyly of finger, Respiratory distress, Mu... |
OMIM:614399 |
Neurogenic Arthrogryposis Multiplex Congenita |
|
Ankle flexion contracture, Skeletal muscle atrophy, Upper limb muscle weakness, Lower limb muscle... |
ORPHA:1143 |
Vein Of Galen Aneurysmal Malformation |
|
Vascular dilatation, Abnormal cerebral vascular morphology, Peripheral arteriovenous fistula |
ORPHA:1053 |
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2 |
|
Short neck, Abnormal rib morphology, Vertebral segmentation defect |
ORPHA:2578 |
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 |
Proximal 16P11.2 Microdeletion Syndrome |
|
Abnormal vertebral morphology, Multicystic kidney dysplasia, Abnormal heart morphology, Congenita... |
ORPHA:261197 |
Isolated Congenital Hypoglossia/Aglossia |
|
Respiratory distress, Dyspnea |
ORPHA:141152 |
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome |
|
Abnormal rib morphology |
ORPHA:2435 |
Cardiomyopathy, Dilated, 1Gg |
|
Respiratory distress, Left ventricular noncompaction, Dilated cardiomyopathy |
OMIM:613642 |
Congenital Heart Defects, Multiple Types, 3 |
|
Tetralogy of Fallot, Persistent left superior vena cava, Atrial septal defect, Abnormal heart mor... |
OMIM:614954 |
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome |
|
Abnormal form of the vertebral bodies, Abnormality of the humeroulnar joint, Short neck, Hemivert... |
ORPHA:2234 |
Heterotaxy, Visceral, 4, Autosomal |
|
Common atrium, Total anomalous pulmonary venous return, Bilateral superior vena cava, Atrioventri... |
OMIM:613751 |
Gorlin Syndrome |
|
Abnormal vertebral morphology, Vertebral wedging, Abnormal rib morphology, Rib fusion, Hemiverteb... |
ORPHA:377 |
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly |
|
Narrow chest, Acetabular spurs, Horizontal ribs, Death in infancy, Short ribs, Trident acetabulum... |
OMIM:617405 |
Fetal Akinesia Deformation Sequence 4 |
|
11 pairs of ribs, Prenatal death, Neonatal death, Short neck, Kyphosis |
OMIM:618393 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3 |
|
Platyspondyly, Thin ribs, Multiple joint dislocation, Knee dislocation, Narrow vertebral interped... |
OMIM:618395 |
Becker Nevus Syndrome |
|
Pectus excavatum, Scoliosis, Hemivertebrae, Cervical ribs |
OMIM:604919 |
Perching Syndrome |
|
Respiratory distress, Camptodactyly, Scoliosis, Joint contracture |
OMIM:617055 |
Infantile-Onset X-Linked Spinal Muscular Atrophy |
|
Ankle flexion contracture, Skeletal muscle atrophy, Interphalangeal joint contracture of finger, ... |
ORPHA:1145 |
Multiple Pterygium Syndrome, Escobar Variant |
|
Intercrural pterygium, Dysplastic patella, Patellar aplasia, Short neck, Thoracolumbar scoliosis,... |
OMIM:265000 |
Metatropic Dysplasia |
|
Platyspondyly, Anisospondyly, Narrow chest, Hypoplasia of the odontoid process, Caudal appendage,... |
OMIM:156530 |
Congenital Disorder Of Glycosylation, Type Iig |
|
Posterior rib gap, Shallow acetabular fossae, Butterfly vertebrae, Thoracic scoliosis, Kyphoscoli... |
OMIM:611209 |
Autosomal Recessive Multiple Pterygium Syndrome |
|
Axillary pterygium, Popliteal pterygium, Abnormal sternum morphology, Camptodactyly of finger, Pt... |
ORPHA:2990 |
Axial Spondylometaphyseal Dysplasia |
|
Platyspondyly, Optic atrophy, Narrow chest, Posterior wedging of vertebral bodies, Aplasia/Hypopl... |
ORPHA:168549 |
Bardet-Biedl Syndrome 16 |
|
Renal agenesis, Respiratory distress, Stage 5 chronic kidney disease, Renal insufficiency, Renal ... |
OMIM:615993 |
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy |
|
Respiratory distress, Distal amyotrophy, Kyphoscoliosis |
OMIM:619099 |
Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Platyspondyly, Pectus carinatum, Hypoplastic sacrum, Lumbar hyperlordosis, Genu valgum, Limited e... |
OMIM:271650 |
Septopreoptic Holoprosencephaly |
|
Abnormal vertebral morphology, Ethmoidal encephalocele, Abnormal rib morphology |
ORPHA:280195 |
Myotonia With Skeletal Abnormalities And Impaired Intellectual Development |
|
Pectus carinatum, Vertebral wedging, Bell-shaped thorax, Genu valgum, Kyphoscoliosis |
OMIM:255710 |
Microphthalmia, Syndromic 3 |
|
Optic nerve hypoplasia, Optic nerve aplasia, Butterfly vertebrae, Missing ribs, Supernumerary rib... |
OMIM:206900 |
Microcephaly-Cervical Spine Fusion Anomalies Syndrome |
|
Abnormal clavicle morphology, Abnormality of the ureter, Hyperlordosis, Abnormal rib morphology, ... |
ORPHA:2522 |
Multiple Epiphyseal Dysplasia Type 5 |
|
Multiple small vertebral fractures, Premature osteoarthritis, Abnormal hip joint morphology, Genu... |
ORPHA:93311 |
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked |
|
Dilated cardiomyopathy, Respiratory distress, Myopathy, Type 1 fibers relatively smaller than typ... |
OMIM:300580 |
Osteogenesis Imperfecta, Type Xv |
|
Platyspondyly, Scoliosis, Thin ribs |
OMIM:615220 |
Congenital Lobar Emphysema |
|
Respiratory distress |
ORPHA:1928 |
Penoscrotal Transposition |
|
Penoscrotal transposition, Pectus carinatum, Abnormality of the urethra, Renal agenesis, Cardiomy... |
ORPHA:2842 |
Aorta Coarctation |
|
Hypoplastic left heart, Tetralogy of Fallot, Coronary artery atherosclerosis, Stroke, Persistent ... |
ORPHA:1457 |
Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Platyspondyly, Pectus carinatum, Synostosis of carpal bones, Abnormal joint morphology, Genu valg... |
ORPHA:93351 |
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Platyspondyly, Narrow chest, Abnormal clavicle morphology, Short neck, Abnormal rib morphology |
ORPHA:93267 |
Acrodysplasia Scoliosis |
|
Spina bifida occulta, Scoliosis, Vertebral segmentation defect |
ORPHA:2956 |
Fibrochondrogenesis 2 |
|
Platyspondyly, Thoracic hypoplasia, Bell-shaped thorax, Short ribs, Cupped ribs |
OMIM:614524 |
Ciliary Dyskinesia, Primary, 40 |
|
Unbalanced atrioventricular canal defect, Atrioventricular canal defect, Congenitally corrected t... |
OMIM:618300 |
Respiratory Distress Syndrome In Premature Infants |
|
Respiratory distress, Tachypnea, Dyspnea |
OMIM:267450 |
Myasthenic Syndrome, Congenital, 6, Presynaptic |
|
Respiratory distress, Apneic episodes precipitated by illness, fatigue, stress, Sudden episodic a... |
OMIM:254210 |
Craniodiaphyseal Dysplasia |
|
Optic atrophy, Abnormal rib morphology |
ORPHA:1513 |
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness |
|
Platyspondyly, Lumbar hyperlordosis, Cupped ribs, Beaking of vertebral bodies, Flat acetabular ro... |
OMIM:609616 |
Schneckenbecken Dysplasia |
|
Platyspondyly, Hypoplastic scapulae, Narrow chest, Thoracic hypoplasia, Stillbirth, Umbilical her... |
OMIM:269250 |
Aicardi Syndrome |
|
Optic atrophy, Block vertebrae, Optic disc coloboma, Butterfly vertebrae, Missing ribs, Supernume... |
ORPHA:50 |
Short Chain Acyl-Coa Dehydrogenase Deficiency |
|
Cardiomyopathy, Respiratory distress, Increased level of methylsuccinic acid in urine, Myopathy, ... |
ORPHA:26792 |
Odontochondrodysplasia 1 |
|
Platyspondyly, Genu recurvatum, Pectus carinatum, Nephronophthisis, Scoliosis, Biconvex vertebral... |
OMIM:184260 |
Thanatophoric Dysplasia, Type Ii |
|
Platyspondyly, Small abnormally formed scapulae, Narrow chest, Short ribs, Neonatal death, Wide-c... |
OMIM:187601 |
Aicardi Syndrome |
|
Optic atrophy, Block vertebrae, Optic disc coloboma, Butterfly vertebrae, Missing ribs, Supernume... |
OMIM:304050 |
Lethal Congenital Contracture Syndrome Type 1 |
|
Short neck, Abnormal form of the vertebral bodies, Abnormal rib morphology, Abnormality of the elbow |
ORPHA:1486 |
Capillary Malformation Of The Lower Lip, Lymphatic Malformation Of Face And Neck, Asymmetry Of Face And Limbs, And Partial/Generalized Overgrowth |
|
Venous malformation, Varicose veins |
OMIM:613089 |
Heterotaxy, Visceral, 7, Autosomal |
|
Interrupted aortic arch, Common atrium, Pulmonary artery hypoplasia, Total anomalous pulmonary ve... |
OMIM:616749 |
Severe Hereditary Thrombophilia Due To Congenital Protein C Deficiency |
|
Abnormal cerebral vascular morphology, Venous insufficiency |
ORPHA:745 |
Chondrodysplasia, Blomstrand Type |
|
Abnormal vertebral morphology, Narrow chest, Short ribs, Stillbirth, Advanced ossification of car... |
OMIM:215045 |
Congenital Disorder Of Glycosylation, Type Iy |
|
Respiratory distress, Joint dislocation, Scoliosis, Hypospadias |
OMIM:300934 |
Myotubular Myopathy With Abnormal Genital Development |
|
Centrally nucleated skeletal muscle fibers, Thin ribs, Respiratory distress, Glandular hypospadia... |
OMIM:300219 |
Mosaic Trisomy 14 |
|
Narrow chest, Short neck, Abnormal rib morphology, Camptodactyly of finger |
ORPHA:1703 |
Lethal Congenital Contracture Syndrome 1 |
|
Widening of cervical spinal canal, Abnormal thorax morphology, Neonatal death |
OMIM:253310 |
Juberg-Hayward Syndrome |
|
Abnormal vertebral morphology, Abnormality of the wrist, Radioulnar synostosis, Abnormal rib morp... |
ORPHA:2319 |
Holt-Oram Syndrome |
|
Hypoplastic left heart, Abnormal clavicle morphology, Atrioventricular canal defect, Ventricular ... |
ORPHA:392 |
Ring Chromosome 8 Syndrome |
|
Hydronephrosis, Abnormality of the ureter |
ORPHA:1450 |
Myasthenic Syndrome, Congenital, 4A, Slow-Channel |
|
Respiratory distress, Apneic episodes precipitated by illness, fatigue, stress, Sudden episodic a... |
OMIM:605809 |
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome |
|
Abnormal form of the vertebral bodies, Sprengel anomaly, Hemivertebrae, Abnormal rib morphology, ... |
ORPHA:2180 |
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome |
|
Abnormal sternum morphology, Respiratory distress, Broad ribs, Ventricular septal defect, Short r... |
ORPHA:2519 |
Laryngotracheoesophageal Cleft Type 4 |
|
Abnormal form of the vertebral bodies, Abnormal rib morphology |
ORPHA:93941 |
Laryngomalacia |
|
Respiratory distress |
OMIM:150280 |
Myopathy And Diabetes Mellitus |
|
Sternocleidomastoid amyotrophy, Weakness of orbicularis oculi muscle, Shoulder girdle muscle weak... |
ORPHA:2596 |
Lethal Recessive Chondrodysplasia |
|
Respiratory distress, Macroglossia, Narrow chest, Flared elbow metaphyses |
ORPHA:1423 |
Atrial Septal Defect 1 |
|
Aortic valve stenosis, Secundum atrial septal defect, Tetralogy of Fallot with pulmonary atresia,... |
OMIM:108800 |
Mucopolysaccharidosis, Type Iva |
|
Platyspondyly, Pectus carinatum, Cervical myelopathy, Hypoplasia of the odontoid process, Ulnar d... |
OMIM:253000 |
White Forelock With Malformations |
|
Spina bifida occulta, Sprengel anomaly, Abnormal rib morphology |
ORPHA:2475 |
Pallister-Hall Syndrome |
|
Renal hypoplasia, Hydroureter, Renal dysplasia, Distal urethral duplication, Ventricular septal d... |
OMIM:146510 |
Klippel-Feil Syndrome 1, Autosomal Dominant |
|
Cervical C2/C3 vertebral fusion, Short neck, Sprengel anomaly, Abnormal rib morphology, Scoliosis... |
OMIM:118100 |
Immunodeficiency 95 |
|
Respiratory distress |
OMIM:619773 |
Lethal Osteosclerotic Bone Dysplasia |
|
Respiratory distress, Dyspnea, Delayed cranial suture closure |
ORPHA:1832 |
Lower Limb Malformation-Hypospadias Syndrome |
|
Abnormality of the ureter, Hypospadias |
ORPHA:2487 |
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1 |
|
Narrow chest, Rib fusion, Short neck, Beaking of vertebral bodies, Sprengel anomaly, Hemivertebra... |
OMIM:213980 |
Diastrophic Dysplasia |
|
Hypoplastic cervical vertebrae, Abnormal form of the vertebral bodies, Elbow dislocation, Joint d... |
ORPHA:628 |
Laryngotracheal Angioma |
|
Respiratory distress, Apnea, Intercostal retractions |
ORPHA:137935 |
Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome |
|
Tarsal synostosis, Posterior fusion of lumbosacral vertebrae, Abnormal form of the vertebral bodi... |
ORPHA:2064 |
Odontochondrodysplasia |
|
Platyspondyly, Narrow chest, Respiratory distress, Death in infancy, Scoliosis, Patent ductus art... |
ORPHA:166272 |
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6 |
|
Arthrogryposis-like hand anomaly, Skeletal muscle atrophy, Respiratory distress, Foot dorsiflexor... |
OMIM:620011 |
Gjc2-Related Late-Onset Primary Lymphedema |
|
Abnormal lymphatic vessel morphology, Varicose veins, Hypoplasia of lymphatic vessels, Venous ins... |
ORPHA:568051 |
Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures |
|
Respiratory distress, Joint contracture, Kyphoscoliosis |
OMIM:617977 |
Severe X-Linked Mitochondrial Encephalomyopathy |
|
Respiratory distress, Increased variability in muscle fiber diameter, Skeletal muscle atrophy |
ORPHA:238329 |
Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Platyspondyly, Abnormal rib cage morphology, Pectus carinatum, Hypoplasia of the odontoid process... |
OMIM:184252 |
Kbg Syndrome |
|
Cervical ribs, Rib fusion, Short neck, Vertebral fusion, Vertebral arch anomaly, Thoracic kyphosis |
OMIM:148050 |
Scimitar Syndrome |
|
Anomalous origin of left coronary artery from the pulmonary artery, Ventricular septal defect, Le... |
ORPHA:185 |
Fibrochondrogenesis |
|
Hypoplastic scapulae, Narrow chest, Abnormal form of the vertebral bodies, Camptodactyly of finge... |
ORPHA:2021 |
Mucopolysaccharidosis, Type X |
|
Platyspondyly, Broad clavicles, Irregular acetabular roof, Broad ribs, Genu valgum, Spatulate rib... |
OMIM:619698 |
Imperforate Oropharynx-Costovertebral Anomalies Syndrome |
|
Missing ribs, Abnormal form of the vertebral bodies, Hemivertebrae, Abnormal rib morphology |
ORPHA:2759 |
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type |
|
Platyspondyly, Thoracic hypoplasia, Posterior rib cupping, Lumbar hyperlordosis, Limited elbow ex... |
OMIM:608728 |
10Q22.3Q23.3 Microduplication Syndrome |
|
Tetralogy of Fallot, Abnormal clavicle morphology, Hypospadias, Abnormal rib morphology |
ORPHA:276422 |
Craniodiaphyseal Dysplasia, Autosomal Dominant |
|
Optic atrophy, Facial diplegia, Death in adolescence, Papilledema, Thickened ribs |
OMIM:122860 |
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type |
|
Thoracolumbar kyphosis, Thin ribs, Narrow chest, Thoracic hypoplasia, Disc-like vertebral bodies,... |
OMIM:151210 |
Autosomal Recessive Robinow Syndrome |
|
Pectus carinatum, Multicystic kidney dysplasia, Synostosis of carpal bones, Elbow dislocation, Ca... |
ORPHA:1507 |
Axial Mesodermal Dysplasia Spectrum |
|
Abnormality of the urinary system, Abnormal form of the vertebral bodies, Abnormality of the uret... |
ORPHA:1834 |
Trisomy 13 |
|
Narrow chest, Abnormality of the ureter, Displacement of the urethral meatus, Hydronephrosis, Ven... |
ORPHA:3378 |
Spondyloepimetaphyseal Dysplasia, Strudwick Type |
|
Platyspondyly, Pectus carinatum, Hypoplasia of the odontoid process, Genu valgum, C1-C2 subluxati... |
OMIM:184250 |
Interstitial Pneumonitis, Desquamative, Familial |
|
Respiratory distress, Tachypnea, Tubulointerstitial fibrosis, Cor pulmonale |
OMIM:263000 |
Caudal Regression Syndrome |
|
Renal agenesis, Decreased muscle mass, Abnormality of the ureter, Renal insufficiency, Vesicouret... |
ORPHA:3027 |
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome |
|
Respiratory distress, Myopathy, Hypertrophic cardiomyopathy |
ORPHA:91130 |
Sillence Syndrome |
|
Abnormal vertebral morphology, Platyspondyly, Intervertebral disk degeneration, Flat acetabular r... |
ORPHA:3168 |
Achondrogenesis Type 1B |
|
Narrow chest, Abnormal rib morphology, Umbilical hernia, Short neck, Short thorax |
ORPHA:93298 |
Cog1-Cdg |
|
Posterior rib gap, Butterfly vertebrae, Kyphoscoliosis, Vertebral segmentation defect, Rib fusion... |
ORPHA:263508 |
Mucopolysaccharidosis Type 4 |
|
Platyspondyly, Pectus carinatum, Joint dislocation, Short thorax, Spinal canal stenosis, Genu val... |
ORPHA:582 |
Dyggve-Melchior-Clausen Disease |
|
Platyspondyly, Pectus carinatum, Hypoplasia of the odontoid process, Atlantoaxial instability, Ab... |
ORPHA:239 |
Jeune Syndrome |
|
Nephropathy, Narrow chest, Nephronophthisis, Abnormal clavicle morphology, Abnormal rib morpholog... |
ORPHA:474 |
Coenzyme Q10 Deficiency, Primary, 8 |
|
Respiratory distress, Left ventricular hypertrophy, Abnormal renal corticomedullary differentiati... |
OMIM:616733 |
Phaver Syndrome |
|
Abnormal form of the vertebral bodies, Camptodactyly of finger, Pterygium, Myelomeningocele, Butt... |
ORPHA:2876 |
Thoracic Outlet Syndrome |
|
Varicose veins |
ORPHA:97330 |
Gaucher Disease Type 2 |
|
Respiratory distress, Abnormal pattern of respiration |
ORPHA:77260 |
Combined Oxidative Phosphorylation Deficiency 30 |
|
Respiratory distress, Left ventricular hypertrophy, Death in infancy |
OMIM:616974 |
Alkaptonuria |
|
Aortic valve calcification, Elevated urinary homogentisic acid, Decreased glomerular filtration r... |
OMIM:203500 |
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Narrow chest, Thoracic hypoplasia, Respiratory distress, Horizontal ribs, Ventricular septal defe... |
OMIM:617895 |
Lethal Kniest-Like Dysplasia |
|
Platyspondyly, Narrow chest, Abnormal cartilage morphology, Short ribs, Hypoplastic vertebral bod... |
ORPHA:2347 |
Wolf-Hirschhorn Syndrome |
|
Abnormal vertebral morphology, Optic atrophy, Abnormality of the vertebral column, Abnormal form ... |
ORPHA:280 |
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency |
|
Abnormal cerebral vascular morphology, Venous insufficiency |
ORPHA:743 |
Osteogenesis Imperfecta, Type Xviii |
|
Thin ribs, Umbilical hernia, Biconcave vertebral bodies, Wormian bones, Vertebral compression fra... |
OMIM:617952 |
Prune Belly Syndrome |
|
Congenital hip dislocation, Pectus carinatum, Hydroureter, Hydronephrosis, Pectus excavatum, Apla... |
OMIM:100100 |
Osteogenesis Imperfecta, Type Ii |
|
Platyspondyly, Thin ribs, Thoracic hypoplasia, Bell-shaped thorax, Multiple rib fractures, Wormia... |
OMIM:166210 |
Fibrochondrogenesis 1 |
|
Platyspondyly, Thin ribs, Joint contracture of the hand, Hypoplastic scapulae, Thoracic hypoplasi... |
OMIM:228520 |
Diaphanospondylodysostosis |
|
Thoracic hypoplasia, Nephrogenic rest, Respiratory distress, Horseshoe kidney, Nephroblastomatosi... |
OMIM:608022 |
Congenital Pseudoarthrosis Of The Clavicle |
|
Cervical ribs, Situs inversus totalis, Osteoarthritis, Dextrocardia, Congenital pseudoarthrosis o... |
ORPHA:66630 |
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly |
|
Narrow chest, Nephrocalcinosis, Thoracic dysplasia, Bell-shaped thorax, Horizontal ribs, Lateral ... |
OMIM:615633 |
Osteogenesis Imperfecta, Type Iii |
|
Thin ribs, Protrusio acetabuli, Biconcave vertebral bodies, Wormian bones, Scoliosis, Kyphosis, W... |
OMIM:259420 |
Mucopolysaccharidosis-Plus Syndrome |
|
Focal segmental glomerulosclerosis, Nephritis, Macroglossia, Pectus carinatum, Respiratory distre... |
OMIM:617303 |
Cole-Carpenter Syndrome |
|
Abnormal form of the vertebral bodies, Wormian bones, Abnormal rib morphology, Scoliosis, Kyphosis |
ORPHA:2050 |
Robinow Syndrome, Autosomal Recessive 1 |
|
Hypoplastic sacrum, Thoracic hemivertebrae, Sacral dimple, Delayed cranial suture closure, Umbili... |
OMIM:268310 |
Robinow Syndrome |
|
Webbed penis, Multicystic kidney dysplasia, Abnormal heart morphology, Kyphoscoliosis, Hydronephr... |
ORPHA:97360 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 28 |
|
Centrally nucleated skeletal muscle fibers, Proximal muscle weakness in lower limbs, Proximal mus... |
OMIM:620375 |
Chronic Pneumonitis Of Infancy |
|
Respiratory distress, Hyperventilation, Tachypnea, Intercostal retractions |
ORPHA:91359 |
Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Pear-shaped vertebrae, Platyspondyly, Limited elbow extension, Genu varum, Osteoarthritis, Flared... |
OMIM:602111 |
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Dilatation of the renal pelvis, Dilatation of the bladder, Ventricular septal defect, Neonatal de... |
OMIM:265380 |
Pleural Mesothelioma |
|
Respiratory distress, Dyspnea, Abnormal thorax morphology |
ORPHA:50251 |
Cooper-Jabs Syndrome |
|
Umbilical hernia, Camptodactyly of finger, Missing ribs, Abnormal rib morphology, Scoliosis |
ORPHA:1488 |
Spinal muscular atrophy, type I, with congenital bone fractures |
|
Congenital hip dislocation, Generalized amyotrophy, Decreased muscle mass, Respiratory distress, ... |
OMIM:271225 |
Osteogenesis Imperfecta, Type X |
|
Platyspondyly, Thin ribs, Narrow chest, Thoracic hypoplasia, Respiratory distress, Broad ribs, Ge... |
OMIM:613848 |
Shwachman-Diamond Syndrome 1 |
|
Myocardial necrosis, Nephrocalcinosis, Narrow chest, Respiratory distress, Irregular ossification... |
OMIM:260400 |
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
|
Death in infancy, Spina bifida, Abnormal rib morphology, Vertebral segmentation defect |
ORPHA:1120 |
Melnick-Needles Syndrome |
|
Anisospondyly, Narrow chest, Abnormal rib morphology, Delayed cranial suture closure, Vesicourete... |
ORPHA:2484 |
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies |
|
Sprengel anomaly, Abnormality of the vertebral column, Abnormal rib morphology |
OMIM:601076 |
Congenital Disorder Of Glycosylation, Type Iu |
|
Respiratory distress, Congenital contracture, Scoliosis, Death in infancy |
OMIM:615042 |
Femoral-Facial Syndrome |
|
Hypoplastic acetabulae, Absent vertebra, Renal agenesis, Abnormal renal collecting system morphol... |
OMIM:134780 |
Grant Syndrome |
|
Abnormality of the glenoid fossa, Narrow chest, Joint dislocation, Wormian bones, Sprengel anomal... |
ORPHA:2097 |
Mitochondrial Dna Depletion Syndrome, Myopathic Form |
|
Skeletal muscle atrophy, Respiratory distress, Myopathy, Spinal muscular atrophy, Weakness of fac... |
ORPHA:254875 |
Beta-Mercaptolactate Cysteine Disulfiduria |
|
Abnormality of the ureter, Genu valgum, Atrial septal defect |
ORPHA:1035 |
Thanatophoric Dysplasia, Type I |
|
Platyspondyly, Small abnormally formed scapulae, Narrow chest, Thoracic hypoplasia, Short ribs, N... |
OMIM:187600 |
Malaria |
|
Respiratory distress, Acute kidney injury |
ORPHA:673 |
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome |
|
Rib fusion, Sacral dimple |
ORPHA:544488 |
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
|
Platyspondyly, 11 pairs of ribs, Thin ribs |
OMIM:300863 |
3M Syndrome |
|
Thin ribs, Congenital hip dislocation, Enlarged thorax, Increased vertebral height, Horizontal ri... |
ORPHA:2616 |
Cole-Carpenter Syndrome 2 |
|
Platyspondyly, Lambdoidal craniosynostosis, Coronal craniosynostosis, Thin ribs, Wide cranial sut... |
OMIM:616294 |
Mucopolysaccharidosis, Type Iiia |
|
Ovoid thoracolumbar vertebrae, Scoliosis, Thickened ribs, Umbilical hernia |
OMIM:252900 |
Achondrogenesis, Type Ii |
|
Absent vertebral body mineralization, Horizontal ribs, Barrel-shaped chest, Short ribs, Stillbirth |
OMIM:200610 |
Renal Hypoplasia |
|
Chronic kidney disease, Unilateral renal agenesis, Glomerulomegaly, Recurrent urinary tract infec... |
ORPHA:93101 |
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2 |
|
Respiratory distress, Ragged-red muscle fibers, Hypertrophic cardiomyopathy, Generalized amyotrophy |
OMIM:613561 |
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy |
|
Platyspondyly, Thin ribs, Hypoplasia of the odontoid process, Kyphoscoliosis, Wormian bones, Shor... |
OMIM:300232 |
Metaphyseal Chondrodysplasia, Schmid Type |
|
Abnormal vertebral morphology, Platyspondyly, Osteosclerosis of ribs, Lumbar hyperlordosis, Anter... |
ORPHA:174 |
Achondrogenesis, Type Ia |
|
Unossified vertebral bodies, Hypoplastic scapulae, Broad clavicles, Narrow chest, Hypoplastic sac... |
OMIM:200600 |
Ciliary Dyskinesia, Primary, 47, And Lissencephaly |
|
Respiratory distress |
OMIM:619466 |
Garg-Mishra Progeroid Syndrome |
|
Platyspondyly, Thin ribs, Narrow chest, Persistent open anterior fontanelle, Ovoid vertebral bodies |
OMIM:620601 |
Cat-Eye Syndrome |
|
Hydronephrosis, Abnormal localization of kidney, Renal hypoplasia/aplasia, Abnormal rib morphology |
ORPHA:195 |
Dextrocardia |
|
Congenital hip dislocation, Abnormal heart morphology, Abnormality of the ureter, Situs inversus ... |
ORPHA:1666 |
Achondrogenesis Type 1A |
|
Narrow chest, Umbilical hernia, Multiple rib fractures, Short neck, Short thorax |
ORPHA:93299 |
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency |
|
Respiratory distress, Increased muscle lipid content, Ragged-red muscle fibers, Myopathy, Macrogl... |
ORPHA:254864 |
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome |
|
Hypoplastic left heart, Hypoplasia of penis, Abnormal rib morphology, Ventricular septal defect |
ORPHA:2772 |
Congenital Laryngeal Web |
|
Respiratory distress |
ORPHA:2374 |
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome |
|
Pectus carinatum, Facial palsy, Hyperlordosis, Abnormal rib morphology |
ORPHA:3068 |
Brachytelephalangic Chondrodysplasia Punctata |
|
Cervical kyphosis, Hypoplastic cervical vertebrae, Atlantoaxial instability, Cervical spinal cana... |
ORPHA:79345 |
Baller-Gerold Syndrome |
|
Abnormal vertebral morphology, Lambdoidal craniosynostosis, Coronal craniosynostosis, Optic atrop... |
OMIM:218600 |
Kniest Dysplasia |
|
Platyspondyly, Respiratory distress, Hip contracture, Lumbar kyphoscoliosis, Genu varum, Pectus e... |
OMIM:156550 |
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive |
|
Respiratory distress |
OMIM:245590 |
Zttk Syndrome |
|
Unilateral renal agenesis, Cervical ribs, Horseshoe kidney, Ventricular septal defect, Rib fusion... |
OMIM:617140 |
Alagille Syndrome |
|
Abnormal form of the vertebral bodies, Abnormality of the ureter, Vertebral segmentation defect, ... |
ORPHA:52 |
Carnitine Deficiency, Systemic Primary |
|
Cardiomyopathy, Dicarboxylic aciduria, Respiratory distress, Hypertrophic cardiomyopathy, Endocar... |
OMIM:212140 |
Pseudoachondroplasia |
|
Platyspondyly, Atlantoaxial dislocation, Genu recurvatum, Hypoplasia of the odontoid process, Uln... |
OMIM:177170 |
Dysosteosclerosis |
|
Platyspondyly, Optic atrophy, Narrow chest, Facial paralysis, Broad ribs, Increased intervertebra... |
OMIM:224300 |
Proteus Syndrome |
|
Venous malformation |
OMIM:176920 |
Congenital Diaphragmatic Hernia |
|
Respiratory distress, Prominent sternum, Congenital diaphragmatic hernia, Aplasia/Hypoplasia of t... |
ORPHA:2140 |
Heterotaxy, Visceral, 12, Autosomal |
|
Ventricular septal defect, Discordant atrioventricular connection, Single coronary artery origin,... |
OMIM:619702 |
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome |
|
Pectus carinatum, Short neck, Kyphosis, Abnormal rib morphology |
ORPHA:3082 |
Radio-Renal Syndrome |
|
Multicystic kidney dysplasia, Abnormal form of the vertebral bodies, Renal agenesis, Respiratory ... |
ORPHA:3015 |
Congenital Alveolar Capillary Dysplasia |
|
Aortic valve stenosis, Abnormal vertebral morphology, Hypoplastic left heart, Respiratory distres... |
ORPHA:210122 |
Renal Caliceal Diverticuli-Deafness Syndrome |
|
Abnormality of the urinary system, Hydroureter, Hydronephrosis, Abnormality of the upper urinary ... |
ORPHA:2838 |
Familial Nasal Acilia |
|
Respiratory distress, Dyspnea |
ORPHA:922 |
Ellis Van Creveld Syndrome |
|
Narrow chest, Hydroureter, Synostosis of carpal bones, Short thorax, Atrioventricular canal defec... |
ORPHA:289 |
Angioosteohypotrophic Syndrome |
|
Venous malformation, Prominent superficial veins |
ORPHA:75508 |
1P36 Deletion Syndrome |
|
Dilated cardiomyopathy, Delayed cranial suture closure, Camptodactyly of finger, Abnormal heart v... |
ORPHA:1606 |
Lethal Hemolytic Anemia-Genital Anomalies Syndrome |
|
Abnormality of the ureter, Hypoplasia of penis, Hypospadias, Renal hypoplasia/aplasia |
ORPHA:1046 |
Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Abnormal vertebral morphology, Platyspondyly, Thoracic hypoplasia, Central vertebral hypoplasia, ... |
ORPHA:93352 |
Multiple Pterygium Syndrome, X-Linked |
|
Thin ribs, Joint dislocation, Multiple pterygia, Vertebral fusion, Abnormal cervical curvature |
OMIM:312150 |
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Platyspondyly, Thin ribs, Death in infancy |
ORPHA:163966 |
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant |
|
Nemaline bodies, Joint contracture of the hand, Skeletal muscle atrophy, Increased endomysial con... |
OMIM:620278 |
Klippel-Trénaunay Syndrome |
|
Abnormal tricuspid valve morphology, Venous insufficiency, Atrial septal defect, Patent ductus ar... |
ORPHA:90308 |
Cardiospondylocarpofacial Syndrome |
|
Carpal synostosis, Horseshoe kidney, Fusion of middle ear ossicles, Muscular ventricular septal d... |
OMIM:157800 |
Congenital Primary Megaureter |
|
Abnormal penis morphology, Recurrent urinary tract infections, Vesicoureteral reflux, Nephrolithi... |
ORPHA:617 |
Gm1-Gangliosidosis, Type I |
|
Thickened ribs, Death in infancy, Hypoplastic vertebral bodies, Short neck, Beaking of vertebral ... |
OMIM:230500 |
Bronchopulmonary Dysplasia |
|
Respiratory distress, Dyspnea, Central apnea, Right ventricular hypertrophy |
ORPHA:70589 |
Osteogenesis Imperfecta, Type Xvi |
|
Platyspondyly, Narrow chest, Multiple rib fractures, Wormian bones, Vertebral compression fracture |
OMIM:616229 |
Truncus Arteriosus |
|
Abnormal coronary artery morphology, Ventricular septal defect, Single coronary artery origin, At... |
ORPHA:3384 |
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome |
|
Abnormally ossified vertebrae, Abnormal rib morphology |
ORPHA:3035 |
Dyggve-Melchior-Clausen Disease |
|
Platyspondyly, Pectus carinatum, Hypoplastic scapulae, Hypoplasia of the odontoid process, Flat g... |
OMIM:223800 |
Mucopolysaccharidosis, Type Ivb |
|
Platyspondyly, Cervical myelopathy, Hypoplasia of the odontoid process, Ulnar deviation of the wr... |
OMIM:253010 |
Campomelia, Cumming Type |
|
Death in infancy, Abnormal thorax morphology, Abnormally ossified vertebrae, Abnormal rib morphology |
ORPHA:1318 |
Milroy Disease |
|
Abnormal venous morphology, Varicose veins |
ORPHA:79452 |
Mucopolysaccharidosis, Type Iiic |
|
Ovoid thoracolumbar vertebrae, Beaking of vertebral bodies, Thickened ribs, Kyphoscoliosis |
OMIM:252930 |
Diamond-Blackfan Anemia 10 |
|
Morgagni diaphragmatic hernia, Respiratory distress, Congenital diaphragmatic hernia, Renal dupli... |
OMIM:613309 |
Hyperparathyroidism, Transient Neonatal |
|
Thin ribs, Unilateral renal agenesis, Fractured rib, Narrow chest, Respiratory distress, Undulate... |
OMIM:618188 |
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities |
|
Pectus carinatum, Delayed cranial suture closure, Respiratory distress, Hypertrophic cardiomyopat... |
OMIM:619383 |
Synaptic Congenital Myasthenic Syndromes |
|
Skeletal muscle atrophy, Hand muscle weakness, Respiratory distress, Type 1 muscle fiber predomin... |
ORPHA:98915 |
Congenital Disorder Of Glycosylation, Type Ix |
|
Respiratory distress, Death in childhood |
OMIM:615597 |
Mitochondrial Pyruvate Carrier Deficiency |
|
Respiratory distress, Organic aciduria |
OMIM:614741 |
Severe Acute Respiratory Syndrome |
|
Respiratory distress, Dyspnea |
ORPHA:140896 |
Silver-Russell Syndrome 1 |
|
Delayed cranial suture closure, Abnormality of the ureter, Nephroblastoma, Urethral valve, Hyposp... |
OMIM:180860 |
Mucopolysaccharidosis, Type Iiib |
|
Ovoid thoracolumbar vertebrae, Thickened ribs |
OMIM:252920 |
Craniofaciofrontodigital Syndrome |
|
Aortic valve stenosis, Pectus carinatum, Respiratory distress, Abnormal heart valve morphology, P... |
ORPHA:363705 |
Vacterl Association With Hydrocephalus |
|
Abnormal vertebral morphology, Abnormality of the vertebral column, Stillbirth |
OMIM:276950 |
Multiple Pterygium Syndrome, Lethal Type |
|
Thin ribs, Joint dislocation, Multiple pterygia, Vertebral fusion, Abnormal cervical curvature |
OMIM:253290 |
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy) |
|
Respiratory distress, Proximal tubulopathy, Aminoaciduria |
OMIM:612075 |
Mucopolysaccharidosis Type 6 |
|
Broad ribs, Genu valgum, Short neck, Kyphosis, Ovoid vertebral bodies |
ORPHA:583 |
Spondyloepiphyseal Dysplasia Congenita |
|
Platyspondyly, Pectus carinatum, Kyphosis, Respiratory distress, Lumbar hyperlordosis, Barrel-sha... |
OMIM:183900 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Respiratory distress, Renal insufficiency, Cardiomyopathy |
ORPHA:79312 |
Three M Syndrome 2 |
|
Thin ribs, Pectus carinatum, Lumbar hyperlordosis, Short neck, Hyperlordosis, Scapular winging, S... |
OMIM:612921 |
Craniosynostosis, Herrmann-Opitz Type |
|
Craniosynostosis, Abnormality of the urethra, Abnormality of the upper urinary tract, Abnormal ri... |
ORPHA:2145 |
Auriculocondylar Syndrome 2A |
|
Respiratory distress, Apnea |
OMIM:614669 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Macroglossia, Pectus carinatum, Respiratory distress, Heparan sulfate excretion in urine, Lumbar ... |
ORPHA:505248 |
Cardiomyopathy, Familial Hypertrophic, 4 |
|
Ventricular hypertrophy, Respiratory distress, Hypertrophic cardiomyopathy, Muscular ventricular ... |
OMIM:115197 |
Acro-Renal-Mandibular Syndrome |
|
Thin ribs, Pectus carinatum, Hip dislocation, Hypoplastic scapulae, Abnormal clavicle morphology,... |
ORPHA:958 |
Frontometaphyseal Dysplasia 1 |
|
Hypoplasia of the musculature, Partial fusion of carpals, Carpal synostosis, Genu valgum, Mitral ... |
OMIM:305620 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 2 |
|
Increased variability in muscle fiber diameter, Respiratory distress, Hypertrophic cardiomyopathy... |
OMIM:604377 |
Idiopathic Neonatal Atrial Flutter |
|
Respiratory distress, Tachypnea |
ORPHA:45452 |
Cenani-Lenz Syndrome |
|
Synostosis of joints, Synostosis of carpal bones, Abnormal form of the vertebral bodies, Elbow di... |
ORPHA:3258 |
Progressive Supranuclear Palsy-Parkinsonism Syndrome |
|
Respiratory distress |
ORPHA:240085 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
|
Aminoaciduria, Glycosuria, Respiratory distress, Hypertrophic cardiomyopathy, Hyperphosphaturia, ... |
OMIM:220110 |
Liposarcoma |
|
Varicose veins |
ORPHA:69078 |
Congenital Myopathy 22B, Severe Fetal |
|
Thin ribs, Hypoplasia of the musculature, Shoulder flexion contracture, Thoracic hypoplasia, Resp... |
OMIM:620369 |
Tetraamelia-Multiple Malformations Syndrome |
|
Optic atrophy, Missing ribs, Abnormal rib morphology, Septo-optic dysplasia, Abnormally ossified ... |
ORPHA:3301 |
Craniometadiaphyseal Dysplasia, Wormian Bone Type |
|
Wormian bones, Broad ribs, Wide anterior fontanel, Vertebral arch anomaly |
ORPHA:85184 |
Sacral Agenesis With Vertebral Anomalies |
|
Abnormal vertebral morphology, Absence of the sacrum, Vertebral clefting, Neonatal death |
OMIM:615709 |
Congenital Disorder Of Glycosylation, Type Ig |
|
Respiratory distress, Butterfly vertebrae, Patent foramen ovale, Short ribs, Micropenis, Hypospad... |
OMIM:607143 |
Cornelia De Lange Syndrome 6 |
|
Pectus carinatum, Posterior rib fusion, Scoliosis, Down-sloping shoulders |
OMIM:620568 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Platyspondyly, Thoracic hypoplasia, Hypertrophic cardiomyopathy, Ventricular septal defect, Hydro... |
OMIM:616897 |
Meier-Gorlin Syndrome 1 |
|
Thin ribs, Joint contracture of the hand, Elbow dislocation, Genu valgum, Patellar aplasia, Aplas... |
OMIM:224690 |
Prune Belly Syndrome With Pulmonic Stenosis, Impaired Intellectual Development, And Deafness |
|
Hydronephrosis, Hydroureter, Pulmonic stenosis |
OMIM:264140 |
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly |
|
Respiratory distress, Narrow chest, Flat acetabular roof, Short thorax |
OMIM:617102 |
Congenital Pulmonary Lymphangiectasia |
|
Respiratory distress, Chylopericardium, Pulmonic stenosis |
ORPHA:2414 |
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies |
|
Pectus excavatum, Hypoplastic distal segments of scapulae, Abnormal rib morphology |
OMIM:602196 |
Thymic-Renal-Anal-Lung Dysplasia |
|
Ureteral agenesis, Ureteral dysgenesis, Renal agenesis |
OMIM:274265 |
Vertebral Hypersegmentation And Orofacial Anomalies |
|
Supernumerary ribs, Scapular winging, Pectus excavatum, Six lumbar vertebrae |
OMIM:619122 |
X-Linked Centronuclear Myopathy |
|
Centrally nucleated skeletal muscle fibers, Respiratory distress, Weakness of facial musculature,... |
ORPHA:596 |
Congenital Disorder Of Glycosylation, Type Ie |
|
Ankle flexion contracture, Muscular dystrophy, Respiratory distress, Knee flexion contracture, Ca... |
OMIM:608799 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3 |
|
Lambdoidal craniosynostosis, Nephrocalcinosis, Restrictive cardiomyopathy, Hydroureter, Ureteral ... |
OMIM:615398 |
Familial Multiple Nevi Flammei |
|
Intracranial hemorrhage, Arteriovenous malformation, Venous insufficiency |
ORPHA:624 |
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia |
|
Dilated cardiomyopathy, Respiratory distress, Hypertrophic cardiomyopathy, Death in infancy, Tach... |
OMIM:614299 |
Urban-Rogers-Meyer Syndrome |
|
Camptodactyly of finger, Abnormality of the ureter, Hypoplasia of penis, Kyphosis, Flexion contra... |
ORPHA:3409 |
Marden-Walker Syndrome |
|
Aplasia/Hypoplasia involving the skeletal musculature, Multicystic kidney dysplasia, Ventricular ... |
ORPHA:2461 |
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans |
|
Platyspondyly, Narrow chest, Respiratory distress, Lumbar hyperlordosis, Neonatal death, Central ... |
OMIM:616482 |
Holzgreve Syndrome |
|
Abnormally ossified vertebrae, Abnormal rib morphology |
ORPHA:2167 |
Poland Syndrome |
|
Ureterocele, Aplasia/Hypoplasia of the sternum, Congenital diaphragmatic hernia, Renal hypoplasia... |
ORPHA:2911 |
Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Anisospondyly, Occipital encephalocele, Thoracic hypoplasia, Pterygium, Neonatal death |
OMIM:224410 |
Isolated Atp Synthase Deficiency |
|
Renal hypoplasia, Dilated cardiomyopathy, Respiratory distress, Hypertrophic cardiomyopathy, 3-Me... |
ORPHA:254913 |
Congenital Anomalies Of Kidney And Urinary Tract 2 |
|
Renal hypoplasia, Hydroureter, Hyperechogenic kidneys, Renal insufficiency, Ureteropelvic junctio... |
OMIM:143400 |
Hurler Syndrome |
|
Abnormal vertebral morphology, Abnormal nerve conduction velocity, Abnormal clavicle morphology, ... |
ORPHA:93473 |
Noonan Syndrome 4 |
|
Abnormal sternum morphology, Hypertrophic cardiomyopathy, Ventricular septal defect, Hydronephros... |
OMIM:610733 |
Lymphangiectasia, Intestinal |
|
Prominent floating ribs, Stillbirth |
OMIM:152800 |
Craniometadiaphyseal Dysplasia |
|
Broad ribs, Genu valgum, Wormian bones, Cubitus valgus, Scoliosis, Genu varum, Wide anterior font... |
OMIM:269300 |
Trisomy 1Q |
|
Multicystic kidney dysplasia, Abnormal rib morphology, Camptodactyly of finger, Congenital diaphr... |
ORPHA:261344 |
Enlarged Parietal Foramina |
|
Venous malformation, Abnormal cerebral vein morphology |
ORPHA:60015 |
Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Homocystinuria, Methylmalonic aciduria, Bell-shaped thorax, Horizontal ribs, Tachypnea, Atrial se... |
OMIM:614857 |
Mucolipidosis Iii Alpha/Beta |
|
Shallow acetabular fossae, Broad ribs, Irregular carpal bones, Spondylolisthesis, Short ribs, Car... |
OMIM:252600 |
Greenberg Dysplasia |
|
Fractured rib, Supernumerary vertebral ossification centers, Large placenta, Barrel-shaped chest,... |
OMIM:215140 |
Brown-Vialetto-Van Laere Syndrome 1 |
|
Skeletal muscle atrophy, Respiratory distress, Nocturnal hypoventilation, Death in childhood, Han... |
OMIM:211530 |
Schwartz-Jampel Syndrome |
|
Elbow dislocation, Abnormality of the ureter, Genu valgum, Hip contracture, Myopathy, Sprengel an... |
ORPHA:800 |
Atelosteogenesis, Type I |
|
Narrow chest, Elbow dislocation, Thoracic hypoplasia, Knee dislocation, Thoracic platyspondyly, 1... |
OMIM:108720 |
Short-Rib Thoracic Dysplasia 15 With Polydactyly |
|
Narrow chest, Respiratory distress, Atrioventricular canal defect, Horseshoe kidney, Horizontal r... |
OMIM:617088 |
Microphthalmia-Microtia-Fetal Akinesia Syndrome |
|
Hydroureter, Camptodactyly of finger, Abnormality of the upper urinary tract, Hypoplasia of penis... |
ORPHA:2547 |
Wolf-Hirschhorn Syndrome |
|
Hip dislocation, Abnormal form of the vertebral bodies, Rib segmentation abnormalities, Rib fusio... |
OMIM:194190 |
Pulmonary Non-Tuberculous Mycobacterial Infection |
|
Respiratory distress, Dyspnea, Pericardial effusion |
ORPHA:411703 |
Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome |
|
Arteriovenous malformation, Venous insufficiency |
ORPHA:137608 |
Cantú Syndrome |
|
Platyspondyly, Narrow chest, Umbilical hernia, Broad ribs, Cuboid-shaped vertebral bodies, Short ... |
ORPHA:1517 |
Acrorenal-Mandibular Syndrome |
|
Thin ribs, Hypoplastic scapulae, Narrow chest, Abnormal sacral segmentation, Renal agenesis, Apla... |
OMIM:200980 |
Osteogenesis Imperfecta, Type Viii |
|
Platyspondyly, Thin ribs, Barrel-shaped chest, Wormian bones, Vertebral compression fracture, Sco... |
OMIM:610915 |
Sclerosteosis 1 |
|
Optic atrophy, Broad clavicles, Broad ribs, Sclerotic vertebral endplates, Sclerotic scapulae, Pa... |
OMIM:269500 |
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development |
|
Thin ribs, Vesicoureteral reflux, Hydronephrosis, Craniosynostosis, Arthrogryposis multiplex cong... |
OMIM:618265 |
Renpenning Syndrome |
|
Skeletal muscle atrophy, Sprengel anomaly, Abnormal rib morphology, Pectus excavatum, Hypospadias |
ORPHA:3242 |
Heterotaxy, Visceral, 1, X-Linked |
|
Ventricular septal defect, Atrial septal defect, Dextrocardia, Single ventricle, Patent ductus ar... |
OMIM:306955 |
Folinic Acid-Responsive Seizures |
|
Respiratory distress, Apnea |
ORPHA:79097 |
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness |
|
Flat glenoid fossa, Lumbar hyperlordosis, Genu valgum, Short ribs, Carpal bone hypoplasia, Cupped... |
OMIM:250420 |
Familial Osteodysplasia, Anderson Type |
|
Aplastic clavicle, Abnormal form of the vertebral bodies, Elbow dislocation, Missing ribs, Abnorm... |
ORPHA:2769 |
Episodic Ataxia Type 1 |
|
Respiratory distress, Calf muscle hypertrophy, Scoliosis, Kyphoscoliosis |
ORPHA:37612 |
Lissencephaly Syndrome, Norman-Roberts Type |
|
Respiratory distress, Atrial septal defect, Patent foramen ovale |
ORPHA:89844 |
Chromosome 1P36 Deletion Syndrome, Distal |
|
Hypospadias, Dilated cardiomyopathy, Ebstein anomaly of the tricuspid valve, Camptodactyly of fin... |
OMIM:607872 |
Cardiac Diverticulum |
|
Aortic valve stenosis, Mitral valve prolapse, Ventricular septal defect, Bicuspid aortic valve, A... |
ORPHA:1686 |
Spondylometaphyseal Dysplasia, Algerian Type |
|
Platyspondyly, Lumbar hyperlordosis, Genu valgum, Kyphoscoliosis, Carpal bone hypoplasia, Anterio... |
OMIM:184253 |
Surfactant Metabolism Dysfunction, Pulmonary, 3 |
|
Respiratory distress, Apnea, Death in infancy, Neonatal death, Tachypnea, Exertional dyspnea, Dys... |
OMIM:610921 |
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion |
|
Respiratory distress, Abnormal heart morphology, Apnea, Hypoventilation, Prominent metopic ridge |
ORPHA:314655 |
Aneurysm-Osteoarthritis Syndrome |
|
Pectus carinatum, Camptodactyly of finger, Abnormal heart morphology, Osteochondritis dissecans, ... |
ORPHA:284984 |
Heterotaxy, Visceral, 2, Autosomal |
|
Bilateral superior vena cava, Left atrial isomerism, Atrioventricular canal defect, Situs inversu... |
OMIM:605376 |
Cleidocranial Dysplasia |
|
Hypoplastic scapulae, Narrow chest, Genu valgum, Down-sloping shoulders, Short clavicles, Wormian... |
ORPHA:1452 |
Recurrent Respiratory Papillomatosis |
|
Respiratory distress, Tachypnea, Dyspnea |
ORPHA:60032 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Respiratory distress, Renal insufficiency, Renal tubular dysfunction |
ORPHA:289916 |
Cartilage-Hair Hypoplasia |
|
Asymmetry of the thorax, Narrow chest, Hypoplasia of the odontoid process, Flaring of lower rib c... |
OMIM:250250 |
Hypophosphatasia |
|
Craniosynostosis, Narrow chest, Abnormal rib morphology |
ORPHA:436 |
Autosomal Dominant Centronuclear Myopathy |
|
Centrally nucleated skeletal muscle fibers, Proximal muscle weakness in lower limbs, Proximal mus... |
ORPHA:169189 |
Phosphoribosylaminoimidazole Carboxylase Deficiency |
|
Lumbar hemivertebrae, Short neck, Missing ribs, Neonatal death |
OMIM:619859 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Unilateral renal agenesis, Cervical ribs, Horseshoe kidney, Abnormal heart morphology, Lumbar hyp... |
ORPHA:500150 |
Progressive Supranuclear Palsy-Corticobasal Syndrome |
|
Respiratory distress |
ORPHA:240103 |
Vacterl/Vater Association |
|
Multicystic kidney dysplasia, Abnormality of the urethra, Renal agenesis, Congenital diaphragmati... |
ORPHA:887 |
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly |
|
Platyspondyly, Thoracolumbar kyphosis, Joint dislocation, Thoracic hypoplasia, Thoracic platyspon... |
OMIM:618019 |
Basal Cell Nevus Syndrome 1 |
|
Vertebral wedging, Abnormal sternum morphology, Kyphoscoliosis, Short ribs, Supernumerary ribs, D... |
OMIM:109400 |
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis |
|
Respiratory distress, Broad ribs, Joint swelling, Flaring of rib cage, Fused cervical vertebrae |
OMIM:612852 |
Mosaic Trisomy 8 |
|
Narrow chest, Camptodactyly of finger, Patellar aplasia, Vertebral segmentation defect, Short nec... |
ORPHA:96061 |
Cartilage-Hair Hypoplasia |
|
Pectus carinatum, Narrow chest, Spinal dysraphism, Biconvex vertebral bodies, Abnormal form of th... |
ORPHA:175 |
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism |
|
Congenital hip dislocation, Ureteral triplication, Mitral valve prolapse, Hydronephrosis, Cubitus... |
OMIM:104350 |
Thyroid Lymphoma |
|
Respiratory distress, Dyspnea |
ORPHA:97285 |
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence |
|
Narrow chest, Cardiomyopathy, Respiratory distress, Abnormal cardiac septum morphology, Hypospadi... |
OMIM:217980 |
Thin Ribs-Tubular Bones-Dysmorphism Syndrome |
|
Abnormal rib morphology |
ORPHA:1506 |
Loeys-Dietz Syndrome 6 |
|
Hip osteoarthritis, Abnormal sternum morphology, Umbilical hernia, Osteochondritis dissecans, Int... |
OMIM:619656 |
Diabetic Embryopathy |
|
Tetralogy of Fallot, Ventricular septal defect, Hydronephrosis, Vertebral segmentation defect, Re... |
ORPHA:1926 |
Achondroplasia |
|
Thoracic hypoplasia, Respiratory distress, Lumbar hyperlordosis, Limited elbow extension, Death i... |
OMIM:100800 |
Parkes Weber Syndrome |
|
Arteriovenous malformation, Vascular tortuosity, Venous malformation, Spinal arteriovenous malfor... |
ORPHA:90307 |
Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 1 |
|
Stroke, Vascular granular osmiophilic material deposition, Lacunar stroke, Varicose veins |
OMIM:125310 |
Osteogenesis Imperfecta, Type Vii |
|
Narrow chest, Delayed cranial suture closure, Death in infancy, Wide cranial sutures, Wormian bon... |
OMIM:610682 |
Erythrocytosis, Familial, 2 |
|
Stroke, Cerebral hemorrhage, Varicose veins |
OMIM:263400 |
Hereditary Pulmonary Alveolar Proteinosis |
|
Respiratory distress, Tachypnea |
ORPHA:264675 |
Chitayat Syndrome |
|
Respiratory distress, Pectus excavatum |
OMIM:617180 |
Severe Congenital Nemaline Myopathy |
|
Thin ribs, Nemaline bodies, Skeletal muscle atrophy, Arthrogryposis multiplex congenita, Abnormal... |
ORPHA:171430 |
Koolen-De Vries Syndrome |
|
Kyphosis, Vesicoureteral reflux, Renal duplication, Vertebral segmentation defect, Hydronephrosis... |
ORPHA:96169 |
Von Willebrand Disease |
|
Gastrointestinal angiodysplasia, Abnormal mitral valve morphology, Venous insufficiency |
ORPHA:903 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Generalized aminoaciduria, Glutaric aciduria, Proximal tubulopathy, Glycosuria, Respiratory distr... |
OMIM:231680 |
Bent Bone Dysplasia Syndrome 2 |
|
Platyspondyly, Thin ribs, Hypoplastic acetabulae, Butterfly vertebrae, Short ribs, Short sternum,... |
OMIM:620076 |
Renal Dysplasia |
|
Chronic kidney disease, Thickened glomerular basement membrane, Multicystic kidney dysplasia, Ure... |
ORPHA:93108 |
Nipah Virus Disease |
|
Respiratory distress |
ORPHA:99825 |
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Platyspondyly, Pectus carinatum, Multiple joint dislocation, Congenital kyphoscoliosis, Respirato... |
ORPHA:536467 |
Ellis-Van Creveld Syndrome |
|
Pectus carinatum, Narrow chest, Acetabular spurs, Genu valgum, Horizontal ribs, Short ribs, Atria... |
OMIM:225500 |
Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema |
|
Respiratory distress |
ORPHA:100057 |
Kagami-Ogata Syndrome |
|
Thin ribs, Bell-shaped thorax, Diastasis recti, Ventricular septal defect, Kyphoscoliosis, Atrial... |
OMIM:608149 |
Ossification Anomalies-Psychomotor Developmental Delay Syndrome |
|
Thin ribs, Narrow chest, Abnormal thorax morphology, Abnormal form of the vertebral bodies |
ORPHA:73230 |
Marfanoid Habitus With Situs Inversus |
|
Aortic root aneurysm, Situs inversus totalis, Mitral valve prolapse, Persistent left superior ven... |
OMIM:609008 |
Mogs-Cdg |
|
Respiratory distress, Apnea, Hypoventilation, Thoracic scoliosis, Cardiomegaly, Left ventricular ... |
ORPHA:79330 |
Acute Lung Injury |
|
Respiratory distress, Tachypnea, Dyspnea |
ORPHA:178320 |
Microcephalic Primordial Dwarfism, Toriello Type |
|
Abnormal rib morphology |
ORPHA:2643 |
Mgat2-Cdg |
|
Respiratory distress, Abnormal heart morphology, Ventricular septal defect, Patent ductus arterio... |
ORPHA:79329 |
Thymic Carcinoma |
|
Abnormal vena cava morphology |
ORPHA:99868 |
Ciliary Dyskinesia, Primary, 53 |
|
Situs inversus totalis, Right aortic arch, Patent foramen ovale, Cardiomegaly, Persistent left su... |
OMIM:620642 |
Ciliary Dyskinesia, Primary, 2 |
|
Respiratory distress, Situs inversus totalis, Dextrocardia |
OMIM:606763 |
Hypoglossia With Situs Inversus |
|
Respiratory distress, Situs inversus totalis |
OMIM:612776 |
Baller-Gerold Syndrome |
|
Abnormality of the ureter, Vesicoureteral reflux, Aplasia/Hypoplasia of the patella, Hydronephros... |
ORPHA:1225 |
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
|
Dilated cardiomyopathy, Skeletal muscle atrophy, Respiratory distress, Abnormal cardiomyocyte mor... |
ORPHA:367 |
Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Platyspondyly, Narrow chest, Abnormal scapula morphology, Abnormal rib morphology |
ORPHA:93317 |
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy |
|
Respiratory distress, Flexion contracture, Scoliosis |
ORPHA:544503 |
Trisomy 20P |
|
Platyspondyly, Abnormal form of the vertebral bodies, Camptodactyly of finger, Abnormality of the... |
ORPHA:261318 |
Congenital Myasthenic Syndrome |
|
Congenital hip dislocation, Pectus carinatum, Distal amyotrophy, Arthrogryposis multiplex congeni... |
ORPHA:590 |
Presynaptic Congenital Myasthenic Syndromes |
|
Congenital hip dislocation, Pectus carinatum, Distal amyotrophy, Arthrogryposis multiplex congeni... |
ORPHA:98914 |
Inhalational Anthrax |
|
Respiratory distress, Dyspnea |
ORPHA:247257 |
Occipital Horn Syndrome |
|
Platyspondyly, Pectus carinatum, Broad clavicles, Narrow chest, Persistent open anterior fontanel... |
OMIM:304150 |
Otopalatodigital Syndrome Type 2 |
|
Narrow chest, Synostosis of carpal bones, Elbow dislocation, Carpal synostosis, Camptodactyly of ... |
ORPHA:90652 |
Carpenter Syndrome 1 |
|
Lambdoidal craniosynostosis, Coronal craniosynostosis, Joint contracture of the hand, Shallow ace... |
OMIM:201000 |
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
|
Hypoplastic tricuspid valve, Congenital defect of the pericardium, Cervical ribs, Respiratory dis... |
ORPHA:2255 |
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Methylmalonic aciduria, Cardiomyopathy, Respiratory distress, Stage 5 chronic kidney disease, Tub... |
OMIM:251000 |
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation |
|
Thoracic hypoplasia, Abnormal heart morphology, Diastasis recti, Ventricular septal defect, Coat ... |
ORPHA:254534 |
Antley-Bixler Syndrome |
|
Narrow chest, Camptodactyly of finger, Delayed cranial suture closure, Abnormal renal morphology,... |
ORPHA:83 |
Paternal 20Q13.2Q13.3 Microdeletion Syndrome |
|
Respiratory distress |
ORPHA:261304 |
Acromesomelic Dysplasia 4 |
|
Platyspondyly, Umbilical hernia, Thoracic platyspondyly, Lumbar hyperlordosis, Genu valgum, Thora... |
OMIM:619636 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Dilated cardiomyopathy, Respiratory distress, Episodic tachypnea, Exercise-induced rhabdomyolysis... |
ORPHA:26793 |
Avian Influenza |
|
Acute kidney injury, Respiratory distress, Rhabdomyolysis, Tachypnea, Dyspnea, Miscarriage |
ORPHA:454836 |
Microphthalmia, Lenz Type |
|
Hydroureter, Abnormal clavicle morphology, Camptodactyly of finger, Abnormal shoulder morphology,... |
ORPHA:568 |
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly |
|
Renal hypoplasia, Ureteral agenesis, Neonatal death, Renal cyst, Stillbirth, Arthrogryposis multi... |
OMIM:236500 |
Moebius Syndrome |
|
Respiratory distress, Congenital fibrosis of extraocular muscles, Facial diplegia, Micropenis, Ca... |
OMIM:157900 |
Primary Ciliary Dyskinesia |
|
Atrial situs ambiguous, Abnormal inferior vena cava morphology, Abnormal heart morphology, Abnorm... |
ORPHA:244 |
Pallister-Hall Syndrome |
|
Unilateral renal agenesis, Bilateral renal agenesis, Renal dysplasia, Atrioventricular canal defe... |
ORPHA:672 |
Campomelic Dysplasia |
|
Thin ribs, Hypoplastic scapulae, Hypoplastic cervical vertebrae, Contracture of the distal interp... |
OMIM:114290 |
Meacham Syndrome |
|
Hypoplastic left heart, Tetralogy of Fallot, Scimitar anomaly, Right aortic arch, Ventricular sep... |
OMIM:608978 |
Codas Syndrome |
|
Congenital hip dislocation, Hydroureter, Abnormal form of the vertebral bodies, Ventricular septa... |
ORPHA:1458 |
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome |
|
Renal hypoplasia/aplasia, Abnormality of the ureter, Ventricular septal defect |
ORPHA:1770 |
Stt3B-Cdg |
|
Respiratory distress |
ORPHA:370924 |
Vesicoureteral Reflux 3 |
|
Hydroureter, Grade IV vesicoureteral reflux, Recurrent urinary tract infections, Grade III vesico... |
OMIM:613674 |
Neuromuscular Oculoauditory Syndrome |
|
Respiratory distress, Reduced renal corticomedullary differentiation, Knee flexion contracture, W... |
OMIM:618733 |
Gaucher Disease, Perinatal Lethal |
|
Thoracic hypoplasia, Respiratory distress, Apnea, Neonatal death, Cardiomegaly, Arthrogryposis mu... |
OMIM:608013 |
Shprintzen-Goldberg Craniosynostosis Syndrome |
|
Genu recurvatum, Thin ribs, Joint contracture of the hand, Pectus carinatum, Umbilical hernia, Ge... |
OMIM:182212 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Macroglossia, Cardiomyopathy, Respiratory distress, Biventricular hypertrophy, Hypertrophic cardi... |
OMIM:261740 |
Smith-Magenis Syndrome |
|
Abnormal form of the vertebral bodies, Abnormality of the ureter, Renal hypoplasia/aplasia, Abnor... |
ORPHA:819 |
Exstrophy-Epispadias Complex |
|
Penoscrotal transposition, Renal hypoplasia, Renal dysplasia, Abnormal joint morphology, Horsesho... |
ORPHA:322 |
Primary Pulmonary Hypoplasia |
|
Secundum atrial septal defect, Patellar hypoplasia, Abnormal hemidiaphragm morphology, Ureteral s... |
ORPHA:2257 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3 |
|
Hydroureter, Abnormal heart morphology, Neonatal death, Hydronephrosis, Fetal megacystis |
OMIM:619362 |
Kyphomelic Dysplasia |
|
Platyspondyly, Thoracic hypoplasia, Pterygium, Undulate ribs, Anterior rib cupping, Flat acetabul... |
OMIM:211350 |
Vater/Vacterl Association |
|
Abnormal vertebral morphology, Renal agenesis, Abnormal sternum morphology, Renal dysplasia, Tetr... |
OMIM:192350 |
Caudal Duplication |
|
Abnormal penis morphology, Bifid sacrum, Renal hypoplasia/aplasia, Vertebral segmentation defect,... |
ORPHA:1756 |
Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type |
|
Respiratory distress, Homocystinuria, Methylmalonic aciduria |
OMIM:250940 |
Mucopolysaccharidosis, Type Vi |
|
Cervical myelopathy, Pectus carinatum, Hypoplasia of the odontoid process, Hypoplastic acetabulae... |
OMIM:253200 |
Anaplastic Thyroid Carcinoma |
|
Respiratory distress, Dyspnea |
ORPHA:142 |
Aredyld Syndrome |
|
Abnormality of the ureter, Scoliosis |
ORPHA:1133 |
Acquired Methemoglobinemia |
|
Respiratory distress, Dyspnea |
ORPHA:464453 |
Isotretinoin-Like Syndrome |
|
Abnormality of the pulmonary veins, Abnormal aortic arch morphology, Aortic valve stenosis, Abnor... |
ORPHA:2306 |
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted |
|
Renal dysplasia, Respiratory distress, Hydronephrosis, Patent ductus arteriosus, Atrial septal de... |
OMIM:300968 |
Kaposi Sarcoma |
|
Venous insufficiency |
ORPHA:33276 |
Chromosome 6Q24-Q25 Deletion Syndrome |
|
Respiratory distress, Mitral valve prolapse, Dysplastic tricuspid valve, Dysplastic pulmonary val... |
OMIM:612863 |
Cerebrocostomandibular Syndrome |
|
Posterior rib gap, Congenital hip dislocation, Thoracic hypoplasia, Rib gap, Horseshoe kidney, El... |
OMIM:117650 |
Multiple Pterygium-Malignant Hyperthermia Syndrome |
|
Skeletal muscle atrophy, Arthrogryposis multiplex congenita, Camptodactyly of finger, Congenital ... |
ORPHA:2215 |
Czeizel-Losonci Syndrome |
|
Abnormality of the urinary system, Ureteral agenesis, Hydronephrosis, Thoracolumbar scoliosis, De... |
ORPHA:2437 |
Alfadhel Syndrome |
|
Horseshoe kidney, Nasal flaring |
OMIM:620655 |
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type |
|
Hypoplasia of the odontoid process, Bell-shaped thorax, Short neck, Anterior rib cupping, Pectus ... |
OMIM:271665 |
Urofacial Syndrome 1 |
|
Urethral obstruction, Hydroureter, Recurrent urinary tract infections, Hydronephrosis, Urethral v... |
OMIM:236730 |
Microlissencephaly-Micromelia Syndrome |
|
Respiratory distress, 11 pairs of ribs, Fetal pyelectasis |
ORPHA:50810 |
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency |
|
Arterial dissection, Aortic dissection, Abnormal venous morphology, Mitral valve prolapse, Aortic... |
ORPHA:1900 |
Aspergillosis |
|
Abnormality of the vertebral column, Abnormal rib morphology |
ORPHA:1163 |
Structural Heart Defects And Renal Anomalies Syndrome |
|
Interrupted aortic arch, Tetralogy of Fallot, Right aortic arch, Truncus arteriosus, Ventricular ... |
OMIM:617478 |
Glomuvenous Malformation |
|
Venous malformation, Arteriovenous malformation, Gastrointestinal arteriovenous malformation |
ORPHA:83454 |
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy |
|
Platyspondyly, Optic disc coloboma, Cupped ribs, Severe platyspondyly, Scoliosis, Ovoid vertebral... |
OMIM:608940 |
Developmental And Epileptic Encephalopathy 68 |
|
Respiratory distress |
OMIM:618201 |
Amyloidosis, Finnish Type |
|
Cardiomyopathy, Urolithiasis, Stage 5 chronic kidney disease, Renal insufficiency, Nephrotic synd... |
OMIM:105120 |
Cerebrocostomandibular Syndrome |
|
Posterior rib gap, Hydranencephaly, Myelomeningocele, Bell-shaped thorax, Death in infancy, Spina... |
ORPHA:1393 |
Lethal Congenital Contracture Syndrome 5 |
|
Thin ribs, Decreased nerve conduction velocity, Death in infancy |
OMIM:615368 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Respiratory distress, Episodic tachypnea, Intermittent hyperventilation, Apneic episodes in infan... |
ORPHA:348 |
Schinzel-Giedion Syndrome |
|
Abnormal clavicle morphology, Respiratory distress, Abnormality of the ureter, Abnormal heart mor... |
ORPHA:798 |
Farber Disease |
|
Skeletal muscle atrophy, Abnormal sternum morphology, Respiratory distress, Abnormality of the wr... |
ORPHA:333 |
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Increased variability in muscle fiber diameter, Abnormal renal collecting system morphology, Skel... |
ORPHA:17 |
Autosomal Dominant Popliteal Pterygium Syndrome |
|
Popliteal pterygium, Scoliosis, Abnormal rib morphology |
ORPHA:1300 |
Agnathia-Otocephaly Complex |
|
Respiratory distress, Situs inversus totalis, Secundum atrial septal defect |
OMIM:202650 |
Agnathia-Holoprosencephaly-Situs Inversus Syndrome |
|
Respiratory distress, Hypoplasia of penis, Situs inversus totalis |
ORPHA:990 |
Cryptogenic Organizing Pneumonia |
|
Respiratory distress, Dyspnea |
ORPHA:1302 |
Pyknoachondrogenesis |
|
Unossified sacrum, Horizontal ribs, Short ribs, Poorly ossified vertebrae, Short thorax, Enlarged... |
ORPHA:3003 |
Holocarboxylase Synthetase Deficiency |
|
Respiratory distress, Tachypnea |
ORPHA:79242 |
Aortic Arch Interruption |
|
Respiratory distress, Abnormal heart morphology, Ventricular septal defect, Truncus arteriosus, B... |
ORPHA:2299 |
Frontometaphyseal Dysplasia |
|
Joint contracture of the hand, Hypoplasia of the musculature, Limited elbow movement, Sprengel an... |
ORPHA:1826 |
Primary Dystonia, Dyt4 Type |
|
Respiratory distress, Torticollis, Kyphoscoliosis |
ORPHA:98805 |
Cleidocranial Dysplasia 1 |
|
Aplastic clavicle, Hypoplastic scapulae, Narrow chest, Kyphosis, Persistent open anterior fontane... |
OMIM:119600 |
Mitochondrial Complex I Deficiency, Nuclear Type 18 |
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Hydronephrosis, Hydroureter, Death in infancy |
OMIM:618240 |
Monosomy 9Q22.3 |
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Abnormality of the vertebral column, Umbilical hernia, Metopic synostosis, Short neck, Abnormal r... |
ORPHA:77301 |
8Q24.3 Microdeletion Syndrome |
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Unilateral renal agenesis, Congenital hip dislocation, Narrow chest, Bilateral renal hypoplasia, ... |
ORPHA:508488 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
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Dilated cardiomyopathy, Renal dysplasia, Elbow flexion contracture, Apnea, Renal insufficiency, I... |
OMIM:608836 |
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion |
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Thoracic hypoplasia, Diastasis recti, Hydronephrosis, Wrist flexion contracture, Flexion contract... |
ORPHA:254528 |
X-Linked Myotubular Myopathy-Abnormal Genitalia Syndrome |
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Thin ribs, Glandular hypospadias, Penile hypospadias, Penoscrotal hypospadias, Micropenis |
ORPHA:456328 |
Infant Acute Respiratory Distress Syndrome |
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Tachypnea, Nasal flaring, Abnormal thorax morphology |
ORPHA:70587 |
Slc35A1-Cdg |
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Respiratory distress |
ORPHA:238459 |
Stankiewicz-Isidor Syndrome |
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Truncus arteriosus, Ventricular septal defect, Micropenis, Ureteral duplication, Hypospadias, Pat... |
OMIM:617516 |
Glycogen Storage Disease Due To Acid Maltase Deficiency |
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Oligosacchariduria, Lower limb muscle weakness, Respiratory distress, Hypertrophic cardiomyopathy... |
ORPHA:365 |
Ear-Patella-Short Stature Syndrome |
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Aplastic clavicle, Elbow dislocation, Camptodactyly of finger, Respiratory distress, Patellar apl... |
ORPHA:2554 |
Acrocapitofemoral Dysplasia |
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Pectus carinatum, Narrow chest, Lumbar hyperlordosis, Ovoid vertebral bodies, Short ribs, Cupped ... |
OMIM:607778 |
Restrictive Dermopathy 2 |
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Respiratory distress, Short clavicles |
OMIM:619793 |
Severe Generalized Junctional Epidermolysis Bullosa |
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Duplicated collecting system, Multicystic kidney dysplasia, Dilated cardiomyopathy, Hydroureter, ... |
ORPHA:79404 |
Nestor-Guillermo Progeria Syndrome |
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Thin ribs, Limited elbow movement, Wide cranial sutures, Left atrial enlargement, Rib osteolysis,... |
OMIM:614008 |
Tetanus |
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Respiratory distress, Tachypnea, Elevated urinary epinephrine level, Elevated urinary norepinephr... |
ORPHA:3299 |
Bacterial Toxic-Shock Syndrome |
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Recurrent urinary tract infections, Respiratory distress, Renal insufficiency, Myositis, Tachypne... |
ORPHA:36234 |
Pseudo-Torch Syndrome 2 |
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Thin ribs, Secundum atrial septal defect, Abnormal renal corticomedullary differentiation, Patent... |
OMIM:617397 |
Lethal Congenital Contracture Syndrome 10 |
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Increased variability in muscle fiber diameter, Narrow chest, Broad ribs, Ventricular septal defe... |
OMIM:617022 |
Simpson-Golabi-Behmel Syndrome |
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Multicystic kidney dysplasia, Congenital diaphragmatic hernia, Ventricular septal defect, Atrial ... |
ORPHA:373 |
Lymphatic Malformation 7 |
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Pericardial effusion, Atrial septal defect, Varicose veins |
OMIM:617300 |
Loeys-Dietz Syndrome 3 |
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Hip osteoarthritis, Ventricular hypertrophy, Pectus carinatum, Abnormal sternum morphology, Cysto... |
OMIM:613795 |
Clapo Syndrome |
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Venous malformation, Varicose veins |
ORPHA:168984 |
Mitochondrial Complex I Deficiency, Nuclear Type 37 |
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Respiratory distress, Hypospadias, Skeletal muscle atrophy |
OMIM:619272 |
Telangiectasia, Hereditary Hemorrhagic, Type 4 |
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Arteriovenous fistulas of celiac and mesenteric vessels, Dilatation of mesenteric artery, Transie... |
OMIM:610655 |
Brain-Lung-Thyroid Syndrome |
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