Gastroschisis |
|
Abdominal wall defect, Gastroschisis |
OMIM:230750 |
Neurogenic Thoracic Outlet Syndrome |
|
Abnormal rib morphology |
ORPHA:100073 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10 |
|
Neural tube defect |
OMIM:615041 |
Endosteal Hyperostosis, Worth Type |
|
Craniofacial hyperostosis, Generalized osteosclerosis, Abnormal rib morphology, Clavicular sclero... |
ORPHA:2790 |
Gastroschisis |
|
Gastroschisis |
ORPHA:2368 |
Spina Bifida-Hypospadias Syndrome |
|
Spina bifida, Spinal dysraphism |
ORPHA:3176 |
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome |
|
Abnormal rib morphology |
ORPHA:2435 |
Thoraco-Abdominal Enteric Duplication |
|
Meningocele, Abnormal tricuspid valve morphology, Dextrocardia |
ORPHA:1759 |
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome |
|
Anencephaly, Gastroschisis, Spina bifida |
ORPHA:2476 |
Craniodiaphyseal Dysplasia |
|
Craniofacial hyperostosis, Abnormal rib morphology |
ORPHA:1513 |
Atrial Septal Defect 2 |
|
Ventricular septal defect, Dextrocardia, Patent ductus arteriosus, Pulmonic stenosis, Atrial sept... |
OMIM:607941 |
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome |
|
Abnormal rib morphology, Pectus carinatum |
ORPHA:3268 |
Atrioventricular Septal Defect, Susceptibility To, 2 |
|
Atrioventricular canal defect, Dextrocardia |
OMIM:606217 |
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases |
|
Spina bifida, Mitral valve prolapse |
OMIM:211960 |
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly |
|
Lateral clavicle hook, Narrow chest, Short ribs, Horizontal ribs |
OMIM:617405 |
Congenital Pseudoarthrosis Of The Clavicle |
|
Situs inversus totalis, Dextrocardia |
ORPHA:66630 |
Ciliary Dyskinesia, Primary, 39 |
|
Double outlet right ventricle, Dextrocardia |
OMIM:618254 |
Joubert Syndrome 15 |
|
Exencephaly |
OMIM:614464 |
Grant Syndrome |
|
Abnormal rib morphology, Decreased skull ossification, Narrow chest, Sprengel anomaly, Abnormal c... |
ORPHA:2097 |
Frontal Encephalocele |
|
Encephalocele, Hydrocephalus, Spina bifida |
ORPHA:1931 |
Metatropic Dysplasia |
|
Abnormal enchondral ossification, Abnormal rib morphology, Long thorax, Narrow chest, Abnormal co... |
ORPHA:2635 |
Kyphomelic Dysplasia |
|
Anterior rib cupping, Missing ribs, Lateral clavicle hook, Short thorax, Undulate ribs, Narrow chest |
ORPHA:1801 |
Anencephaly 1 |
|
Anencephaly, Spina bifida |
OMIM:206500 |
Ophthalmoplegia, External, And Myopia |
|
Spina bifida |
OMIM:311000 |
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility |
|
Situs inversus totalis, Dextrocardia |
OMIM:618948 |
Aminopterin/Methotrexate Embryofetopathy |
|
Encephalocele, Ventricular septal defect, Situs inversus totalis, Hydrocephalus, Meningocele, Ane... |
ORPHA:1908 |
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly |
|
Lateral clavicle hook, Bell-shaped thorax, Thoracic dysplasia, Narrow chest, Horizontal ribs |
OMIM:615633 |
Acalvaria |
|
Hydrocephalus, Holoprosencephaly, Spina bifida |
ORPHA:945 |
Heterotaxy, Visceral, 6, Autosomal |
|
Dextrocardia, Situs inversus totalis, Double outlet right ventricle, Hypoplastic left heart, Tran... |
OMIM:614779 |
Meckel Syndrome, Type 4 |
|
Encephalocele, Ventricular septal defect, Hydrocephalus, Meningocele, Anencephaly, Atrial septal ... |
OMIM:611134 |
Spondylocostal Dysostosis 3, Autosomal Recessive |
|
Rib fusion, Supernumerary vertebral ossification centers |
OMIM:609813 |
Osteogenesis Imperfecta, Type Ix |
|
Pectus excavatum, Decreased calvarial ossification, Pectus carinatum, Beaded ribs |
OMIM:259440 |
Ciliary Dyskinesia, Primary, 7 |
|
Situs inversus totalis, Dextrocardia |
OMIM:611884 |
Achondrogenesis Type 1B |
|
Short thorax, Abnormal rib morphology, Narrow chest, Abnormal enchondral ossification |
ORPHA:93298 |
Heart Defects-Limb Shortening Syndrome |
|
Abnormal rib morphology, Narrow chest |
ORPHA:1354 |
Ciliary Dyskinesia, Primary, 17 |
|
Situs inversus totalis, Dextrocardia |
OMIM:614679 |
Neural Tube Defects, Susceptibility To |
|
Myelomeningocele, Spina bifida occulta, Anencephaly, Hydrocephalus |
OMIM:182940 |
Czeizel-Losonci Syndrome |
|
Dextrocardia, Spina bifida, Myelomeningocele, Hydrocephalus, Spina bifida occulta |
ORPHA:2437 |
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies |
|
Pectus excavatum, Hypoplastic distal segments of scapulae, Abnormal rib morphology |
OMIM:602196 |
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
|
Bicuspid aortic valve, Spina bifida, Patent ductus arteriosus, Anomalous pulmonary venous return,... |
ORPHA:1120 |
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Abnormal clavicle morphology, Decreased skull ossification, Abnormal rib morphology, Narrow chest |
ORPHA:93267 |
Right Atrial Isomerism |
|
Right atrial isomerism, Ventricular septal defect, Dextrocardia, Situs inversus totalis, Complete... |
OMIM:208530 |
Short Stature-Wormian Bones-Dextrocardia Syndrome |
|
Patent ductus arteriosus, Dextrocardia |
ORPHA:2863 |
Jeune Syndrome |
|
Abnormal clavicle morphology, Short thorax, Abnormal rib morphology, Abnormal sternum morphology,... |
ORPHA:474 |
Ciliary Dyskinesia, Primary, 37 |
|
Situs inversus totalis, Dextrocardia |
OMIM:617577 |
Spondylocostal Dysostosis 4, Autosomal Recessive |
|
Dextrocardia, Situs inversus totalis, Myelomeningocele, Hydrocephalus, Spina bifida occulta |
OMIM:613686 |
Subependymal Nodular Heterotopia |
|
Occipital encephalocele, Myelomeningocele, Meningocele, Nasofrontal encephalocele |
ORPHA:101030 |
Heterotaxy, Visceral, 7, Autosomal |
|
Dextrocardia, Mitral atresia, Situs inversus totalis, Common atrium, Hypoplasia of right ventricl... |
OMIM:616749 |
Isolated Klippel-Feil Syndrome |
|
Ventricular septal defect, Spina bifida |
ORPHA:2345 |
Ciliary Dyskinesia, Primary, 38 |
|
Situs inversus totalis, Dextrocardia |
OMIM:618063 |
Thoracolaryngopelvic Dysplasia |
|
Bell-shaped thorax, Short ribs, Horizontal ribs, Irregular chondrocostal junctions |
OMIM:187760 |
Heterotaxy, Visceral, 4, Autosomal |
|
Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, Dextrotransposit... |
OMIM:613751 |
Thoracoabdominal Syndrome |
|
Patent ductus arteriosus, Hydrocephalus, Anencephaly, Transposition of the great arteries, Ectopi... |
OMIM:313850 |
Developmental And Epileptic Encephalopathy 66 |
|
Atrial septal defect, Ventricular septal defect, Dextrocardia |
OMIM:618067 |
Total Anomalous Pulmonary Venous Return 1 |
|
Total anomalous pulmonary venous return, Dextrocardia |
OMIM:106700 |
Nevus Comedonicus Syndrome |
|
Spina bifida occulta, Spina bifida |
ORPHA:64754 |
Heterotaxy, Visceral, 8, Autosomal |
|
Atrial situs inversus, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Hypoplast... |
OMIM:617205 |
Heterotaxy, Visceral, 1, X-Linked |
|
Cardiomegaly, Aqueductal stenosis, Dextrotransposition of the great arteries, Atrial septal defec... |
OMIM:306955 |
Schisis Association |
|
Encephalocele, Anencephaly, Spina bifida |
ORPHA:63862 |
Iniencephaly |
|
Encephalocele, Omphalocele, Spina bifida, Hydrocephalus, Myelomeningocele, Anencephaly, Spinal dy... |
ORPHA:63259 |
Heterotaxy, Visceral, 2, Autosomal |
|
Dextrocardia, Situs inversus totalis, Atrioventricular canal defect, Left atrial isomerism, Trans... |
OMIM:605376 |
10Q22.3Q23.3 Microduplication Syndrome |
|
Abnormal clavicle morphology, Abnormal rib morphology |
ORPHA:276422 |
Achondrogenesis, Type Ia |
|
Barrel-shaped chest, Hypoplastic scapulae, Beaded ribs, Broad clavicles, Abnormal hand bone ossif... |
OMIM:200600 |
Poland Syndrome |
|
Dextrocardia |
OMIM:173800 |
Ciliary Dyskinesia, Primary, 30 |
|
Situs inversus totalis, Ventricular septal defect, Dextrocardia |
OMIM:616037 |
Ciliary Dyskinesia, Primary, 25 |
|
Situs inversus totalis, Dextrocardia |
OMIM:615482 |
Cardiac Diverticulum |
|
Bicuspid aortic valve, Mitral stenosis, Left ventricular hypertrophy, Ventricular septal defect, ... |
ORPHA:1686 |
Pseudotrisomy 13 Syndrome |
|
Encephalocele, Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, H... |
OMIM:264480 |
Chiari Malformation Type Ii |
|
Cervical myelopathy, Myelomeningocele, Hydrocephalus, Spina bifida |
OMIM:207950 |
Autosomal Dominant Spondylocostal Dysostosis |
|
Short thorax, Posterior rib fusion, Abnormal rib morphology, Missing ribs |
ORPHA:1797 |
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome |
|
Decreased calvarial ossification, Abnormal rib morphology |
ORPHA:2772 |
Lethal Congenital Contracture Syndrome Type 1 |
|
Abnormal cortical bone morphology, Abnormal rib morphology |
ORPHA:1486 |
Hypophosphatasia |
|
Abnormal rib morphology, Narrow chest, Craniosynostosis |
ORPHA:436 |
Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Dextrocardia, Hydrocephalus, Transposition of the great arteries, Neonatal death, Atrioventricula... |
OMIM:314390 |
Ciliary Dyskinesia, Primary, 2 |
|
Situs inversus totalis, Dextrocardia |
OMIM:606763 |
Triploidy |
|
Hydrocephalus, Meningocele, Abnormal cardiac septum morphology, Holoprosencephaly, Intrauterine g... |
ORPHA:3376 |
Fryns Microphthalmia Syndrome |
|
Neural tube defect |
OMIM:600776 |
Craniorachischisis |
|
Omphalocele, Cervical spina bifida, Myelomeningocele, Anencephaly, Sirenomelia, Spinal dysraphism |
ORPHA:63260 |
Caudal Duplication |
|
Myelomeningocele, Spina bifida |
ORPHA:1756 |
Mosaic Trisomy 14 |
|
Abnormal rib morphology, Narrow chest |
ORPHA:1703 |
Wildervanck Syndrome |
|
Meningocele |
ORPHA:3456 |
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility |
|
Situs inversus totalis, Dextrocardia |
OMIM:619607 |
Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Abnormal rib morphology, Osteoporosis, Pectus carinatum |
ORPHA:93351 |
Muscle-Eye-Brain Disease |
|
Hydrocephalus, Meningocele, Holoprosencephaly |
ORPHA:588 |
Meckel Syndrome, Type 2 |
|
Encephalocele, Intrauterine growth retardation, Meningocele, Anencephaly |
OMIM:603194 |
Thin Ribs-Tubular Bones-Dysmorphism Syndrome |
|
Abnormal rib morphology |
ORPHA:1506 |
Humero-Radial Synostosis |
|
Meningocele |
ORPHA:3265 |
Constricting Bands, Congenital |
|
Encephalocele, Bladder exstrophy, Omphalocele, Gastroschisis |
OMIM:217100 |
Mosaic Trisomy 9 |
|
Ventricular septal defect, Dextrocardia, Spina bifida, Abnormal heart valve morphology, Patent du... |
ORPHA:99776 |
Limb Body Wall Complex |
|
Encephalocele, Ventricular septal defect, Spina bifida, Myelomeningocele, Hydrocephalus, Anenceph... |
ORPHA:2369 |
Cooper-Jabs Syndrome |
|
Abnormal rib morphology, Missing ribs, Reduced bone mineral density |
ORPHA:1488 |
Ciliary Dyskinesia, Primary, 22 |
|
Situs inversus totalis, Dextrocardia |
OMIM:615444 |
Melnick-Needles Syndrome |
|
Craniofacial hyperostosis, Short thorax, Abnormal rib morphology, Osteolytic defects of the phala... |
ORPHA:2484 |
Joubert Syndrome With Ocular Defect |
|
Encephalocele, Hydrocephalus, Dextrocardia |
ORPHA:220493 |
Meacham Syndrome |
|
Atrial septal defect, Bicuspid aortic valve, Ventricular septal defect, Dextrocardia, Patent duct... |
OMIM:608978 |
Acropectorovertebral Dysplasia |
|
Spina bifida |
ORPHA:957 |
Autosomal Recessive Spondylocostal Dysostosis |
|
Meningocele, Anomalous pulmonary venous return, Umbilical hernia, Spina bifida occulta, Intrauter... |
ORPHA:2311 |
Secondary Short Bowel Syndrome |
|
Failure to thrive, Gastroschisis, Weight loss |
ORPHA:95427 |
Cardiac-Urogenital Syndrome |
|
Cor triatrium sinister, Ventricular septal defect, Dextrocardia, Coronary sinus enlargement, Peri... |
OMIM:618280 |
Cat-Eye Syndrome |
|
Abnormal rib morphology |
ORPHA:195 |
Craniosynostosis, Herrmann-Opitz Type |
|
Abnormal rib morphology, Craniosynostosis |
ORPHA:2145 |
Scimitar Syndrome |
|
Ventricular septal defect, Dextrocardia, Mitral atresia, Patent ductus arteriosus, Partial anomal... |
ORPHA:185 |
Gm1 Gangliosidosis |
|
Inguinal hernia, Aplasia/Hypoplasia of the abdominal wall musculature, Weight loss, Gastroschisis... |
ORPHA:354 |
Colonic Atresia |
|
Omphalocele, Gastroschisis |
ORPHA:1198 |
Thoracic Outlet Syndrome |
|
Abnormal rib morphology |
ORPHA:97330 |
Congenitally Corrected Transposition Of The Great Arteries |
|
Atrial situs ambiguous, Abnormal left ventricular outflow tract morphology, Abnormal tricuspid va... |
ORPHA:216694 |
Cerebrocostomandibular Syndrome |
|
Ventricular septal defect, Spina bifida, Myelomeningocele, Meningocele, Hydranencephaly, Intraute... |
ORPHA:1393 |
Camptodactyly Syndrome, Guadalajara Type 1 |
|
Intrauterine growth retardation, Spina bifida |
ORPHA:1327 |
Joubert Syndrome 14 |
|
Encephalocele, Hydrocephalus, Meningocele, Ventricular septal defect |
OMIM:614424 |
Primary Pulmonary Hypoplasia |
|
Secundum atrial septal defect, Intrauterine growth retardation, Dextrocardia |
ORPHA:2257 |
Diastrophic Dysplasia |
|
Abnormal clavicle morphology, Increased bone mineral density, Abnormal rib morphology |
ORPHA:628 |
Heterotaxy, Visceral, 12, Autosomal |
|
Ventricular septal defect, Dextrocardia, Situs inversus totalis, Common atrium, Patent ductus art... |
OMIM:619702 |
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy |
|
Ventricular septal defect, Dextrocardia, Patent ductus arteriosus, Partial anomalous pulmonary ve... |
OMIM:619657 |
Dextrocardia |
|
Situs inversus totalis, Hydrocephalus, Dextrocardia, Abnormal heart morphology |
ORPHA:1666 |
Microcephalic Primordial Dwarfism, Toriello Type |
|
Abnormal rib morphology |
ORPHA:2643 |
Bardet-Biedl Syndrome 17 |
|
Situs inversus totalis, Dextrocardia |
OMIM:615994 |
Hypertelorism-Hypospadias-Polysyndactyly Syndrome |
|
Encephalocele, Exencephaly |
ORPHA:2211 |
Pyknoachondrogenesis |
|
Craniofacial hyperostosis, Abnormal intramembranous ossification, Short thorax, Poorly ossified v... |
ORPHA:3003 |
Microcephaly-Cervical Spine Fusion Anomalies Syndrome |
|
Pectus excavatum, Abnormal clavicle morphology, Abnormal rib morphology |
ORPHA:2522 |
Renpenning Syndrome |
|
Pectus excavatum, Sprengel anomaly, Abnormal rib morphology |
ORPHA:3242 |
Proximal 16P11.2 Microdeletion Syndrome |
|
Atrial septal defect, Abnormal aortic valve morphology, Dextrocardia, Abnormal heart morphology |
ORPHA:261197 |
Knobloch Syndrome |
|
Patent ductus arteriosus, Occipital encephalocele, Hydrocephalus, Dextrocardia |
ORPHA:1571 |
Anophthalmia Plus Syndrome |
|
Spina bifida |
ORPHA:1104 |
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2 |
|
Abnormal rib morphology |
ORPHA:2578 |
White Forelock With Malformations |
|
Sprengel anomaly, Abnormal rib morphology |
ORPHA:2475 |
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome |
|
Craniofacial hyperostosis, Abnormal rib morphology, Pectus carinatum |
ORPHA:3068 |
Necrotizing Enterocolitis |
|
Small for gestational age, Gastroschisis |
ORPHA:391673 |
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease |
|
Situs inversus totalis, Dextrocardia |
OMIM:613095 |
Marden-Walker Syndrome |
|
Intrauterine growth retardation, Dextrocardia |
OMIM:248700 |
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome |
|
Atrioventricular canal defect, Dextrocardia |
OMIM:618929 |
Johanson-Blizzard Syndrome |
|
Intrauterine growth retardation, Abnormal cardiac septum morphology, Dextrocardia |
ORPHA:2315 |
Fibrochondrogenesis |
|
Hypoplastic scapulae, Abnormal rib morphology, Bell-shaped thorax, Short ribs, Narrow chest, Broa... |
ORPHA:2021 |
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome |
|
Abnormally ossified vertebrae, Abnormal rib morphology |
ORPHA:3035 |
Holt-Oram Syndrome |
|
Abnormal clavicle morphology, Down-sloping shoulders, Pectus excavatum, Abnormal rib morphology, ... |
ORPHA:392 |
Isolated Posterior Meningocele |
|
Hydrocephalus, Meningocele, Lipomyelomeningocele, Neural tube defect, Occipital meningocele |
ORPHA:268810 |
Sirenomelia |
|
Spina bifida, Sirenomelia |
ORPHA:3169 |
Lateral Meningocele Syndrome |
|
Bicuspid aortic valve, Ventricular septal defect, Patent ductus arteriosus, Hydrocephalus, Mening... |
OMIM:130720 |
Femoral-Facial Syndrome |
|
Rib fusion, Abnormal rib morphology, Sprengel anomaly |
ORPHA:1988 |
Lateral Meningocele Syndrome |
|
Umbilical hernia, Meningocele, Ventricular septal defect |
ORPHA:2789 |
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies |
|
Sprengel anomaly, Abnormal rib morphology |
OMIM:601076 |
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome |
|
Broad ribs, Abnormal sternum morphology, Abnormal rib morphology, Short ribs |
ORPHA:2519 |
Waardenburg Syndrome Type 1 |
|
Meningocele, Spina bifida |
ORPHA:894 |
Septopreoptic Holoprosencephaly |
|
Abnormal rib morphology |
ORPHA:280195 |
Heterotaxy, Visceral, 5, Autosomal |
|
Right atrial isomerism, Ventricular septal defect, Dextrocardia, Patent ductus arteriosus, Partia... |
OMIM:270100 |
Chromosome 15Q25 Deletion Syndrome |
|
Ventricular septal defect, Dextrocardia, Coronary artery fistula, Abnormal cardiac septum morphol... |
OMIM:614294 |
Fountain Syndrome |
|
Spina bifida occulta, Spina bifida |
ORPHA:3219 |
Fibrous Dysplasia Of Bone |
|
Abnormal clavicle morphology, Thin bony cortex, Cortical irregularity, Osteomalacia, Fibrous dysp... |
ORPHA:249 |
Pagod Syndrome |
|
Encephalocele, Spina bifida, Situs inversus totalis, Meningocele, Hypoplastic left heart |
ORPHA:991 |
Imperforate Oropharynx-Costovertebral Anomalies Syndrome |
|
Abnormal rib morphology, Missing ribs |
ORPHA:2759 |
Mucopolysaccharidosis Type 4 |
|
Pectus carinatum, Short thorax, Abnormal rib morphology, Reduced bone mineral density |
ORPHA:582 |
Campomelia, Cumming Type |
|
Abnormal thorax morphology, Abnormally ossified vertebrae, Abnormal rib morphology |
ORPHA:1318 |
Holzgreve Syndrome |
|
Abnormally ossified vertebrae, Abnormal rib morphology |
ORPHA:2167 |
Neurocutaneous Melanocytosis |
|
Meningocele |
ORPHA:2481 |
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome |
|
Sprengel anomaly, Abnormal rib morphology |
ORPHA:2180 |
Ellis Van Creveld Syndrome |
|
Ventricular septal defect, Dextrocardia, Abnormal heart valve morphology, Situs inversus totalis,... |
ORPHA:289 |
Methylmalonic Aciduria And Homocystinuria, Cblf Type |
|
Atrial septal defect, Patent ductus arteriosus, Dextrocardia |
OMIM:277380 |
Distal Duplication 5Q |
|
Ventricular septal defect, Dextrocardia |
ORPHA:96097 |
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome |
|
Abnormal rib morphology, Pectus carinatum |
ORPHA:3082 |
Cleidocranial Dysplasia |
|
Hypoplastic scapulae, Down-sloping shoulders, Abnormal rib morphology, Osteoporosis, Narrow chest... |
ORPHA:1452 |
Sacral Defect With Anterior Meningocele |
|
Myeloschisis, Myelomeningocele, Meningocele, Hydrocephalus, Dermal sinus tract |
OMIM:600145 |
8P Inverted Duplication/Deletion Syndrome |
|
Tetralogy of Fallot, Dextrocardia, Abnormal heart morphology |
ORPHA:96092 |
Antley-Bixler Syndrome |
|
Abnormal rib morphology, Narrow chest, Craniosynostosis |
ORPHA:83 |
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome |
|
Abnormal rib morphology |
ORPHA:2234 |
Tetraamelia-Multiple Malformations Syndrome |
|
Abnormally ossified vertebrae, Abnormal rib morphology, Missing ribs |
ORPHA:3301 |
Mesomelic Dysplasia, Kantaputra Type |
|
Abnormal rib morphology |
ORPHA:1836 |
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome |
|
Meningocele |
ORPHA:2031 |
Cleft Lip/Palate-Deafness-Sacral Lipoma Syndrome |
|
Meningocele |
ORPHA:2003 |
Ciliary Dyskinesia, Primary, 20 |
|
Atrial situs inversus, Ventricular septal defect, Dextrocardia, Situs inversus totalis, Double ou... |
OMIM:615067 |
Pelvis-Shoulder Dysplasia |
|
Hydranencephaly, Hydrocephalus, Spina bifida |
ORPHA:2839 |
Amish Lethal Microcephaly |
|
Spina bifida |
ORPHA:99742 |
Marden-Walker Syndrome |
|
Ventricular septal defect, Dextrocardia, Situs inversus totalis, Hydrocephalus, Abnormal anatomic... |
ORPHA:2461 |
Laryngotracheoesophageal Cleft Type 4 |
|
Abnormal rib morphology |
ORPHA:93941 |
Trisomy 18 |
|
Ventricular septal defect, Spina bifida, Anencephaly, Holoprosencephaly, Atrial septal defect, In... |
ORPHA:3380 |
Acromelic Frontonasal Dysplasia |
|
Encephalocele, Meningocele |
ORPHA:1827 |
Klippel-Feil Syndrome 1, Autosomal Dominant |
|
Sprengel anomaly, Abnormal rib morphology |
OMIM:118100 |
Focal Dermal Hypoplasia |
|
Ventricular septal defect, Spina bifida, Patent ductus arteriosus, Abnormal cardiac septum morpho... |
ORPHA:2092 |
Fibular Hemimelia |
|
Spina bifida, Abnormal heart morphology |
ORPHA:93323 |
Prune Belly Syndrome |
|
Pectus excavatum, Abnormal rib morphology |
ORPHA:2970 |
Trisomy 13 |
|
Abnormal rib morphology, Narrow chest |
ORPHA:3378 |
Catel-Manzke Syndrome |
|
Overriding aorta, Ventricular septal defect, Dextrocardia, Umbilical hernia, Intrauterine growth ... |
OMIM:616145 |
Familial Osteodysplasia, Anderson Type |
|
Abnormal cortical bone morphology, Abnormal rib morphology, Aplastic clavicle, Missing ribs |
ORPHA:2769 |
Short-Rib Thoracic Dysplasia 14 With Polydactyly |
|
Atrial septal defect, Occipital meningocele, Hydrocephalus, Anencephaly |
OMIM:616546 |
Neu-Laxova Syndrome 2 |
|
Intrauterine growth retardation, Spina bifida |
OMIM:616038 |
Chromosome 17P13.1 Deletion Syndrome |
|
Umbilical hernia, Hydrocephalus, Spina bifida |
OMIM:613776 |
Neu-Laxova Syndrome 1 |
|
Ventricular septal defect, Spina bifida, Patent ductus arteriosus, Stillbirth, Short umbilical co... |
OMIM:256520 |
Juberg-Hayward Syndrome |
|
Abnormal rib morphology |
ORPHA:2319 |
Trisomy 20P |
|
Umbilical hernia, Spina bifida |
ORPHA:261318 |
Neurooculorenal Syndrome |
|
Dextrocardia, Aqueductal stenosis, Hydrocephalus, Mitral valve prolapse, Tetralogy of Fallot with... |
OMIM:620305 |
Restrictive Dermopathy |
|
Dextrocardia, Large placenta, Patent ductus arteriosus, Short umbilical cord, Small placenta, Tra... |
ORPHA:1662 |
Basal Cell Nevus Syndrome 1 |
|
Cardiac rhabdomyoma, Hydrocephalus, Cardiac fibroma, Spina bifida |
OMIM:109400 |
Oculocerebrocutaneous Syndrome |
|
Abnormal rib morphology, Missing ribs |
ORPHA:1647 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Bicuspid aortic valve, Truncus arteriosus, Spina bifida, Ventricular septal defect, Perimembranou... |
ORPHA:508498 |
22Q11.2 Deletion Syndrome |
|
Ventricular septal defect, Abnormal pulmonary valve morphology, Spina bifida, Hydrocephalus, Meni... |
ORPHA:567 |
Kyphoscoliotic Ehlers-Danlos Syndrome |
|
Umbilical hernia, Bicuspid aortic valve, Dextrocardia |
ORPHA:536545 |
Poland Syndrome |
|
Aplasia/Hypoplasia of the sternum, Missing ribs, Abnormal rib morphology, Pectus carinatum, Reduc... |
ORPHA:2911 |
Axial Mesodermal Dysplasia Spectrum |
|
Abnormal rib morphology, Missing ribs |
ORPHA:1834 |
Microphthalmia, Syndromic 2 |
|
Ventricular septal defect, Dextrocardia, Patent ductus arteriosus, Double outlet right ventricle,... |
OMIM:300166 |
Cartilage-Hair Hypoplasia |
|
Abnormally ossified vertebrae, Flaring of lower rib cage, Short thorax, Abnormal rib morphology, ... |
ORPHA:175 |
Trisomy 1Q |
|
Short thorax, Abnormal rib morphology |
ORPHA:261344 |
Vacterl With Hydrocephalus |
|
Aqueductal stenosis, Intrauterine growth retardation, Hydrocephalus, Spina bifida |
ORPHA:3412 |
Tetrasomy 9P |
|
Pericarditis, Dextrocardia, Hydrocephalus, Abnormal cardiac septum morphology, Abnormal mitral va... |
ORPHA:3310 |
Smith-Lemli-Opitz Syndrome |
|
Gastroschisis, Cryptorchidism, Holoprosencephaly |
ORPHA:818 |
Lumbar Syndrome |
|
Myelomeningocele, Spina bifida |
ORPHA:83628 |
Acrofacial Dysostosis 1, Nager Type |
|
Aqueductal stenosis, Hydrocephalus, Gastroschisis |
OMIM:154400 |
Fanconi Anemia |
|
Spina bifida, Hydrocephalus, Patent ductus arteriosus, Abnormal cardiac septum morphology, Abnorm... |
ORPHA:84 |
Vater/Vacterl Association |
|
Occipital encephalocele, Ventricular septal defect, Spina bifida, Patent ductus arteriosus, Trans... |
OMIM:192350 |
Aspergillosis |
|
Abnormal rib morphology |
ORPHA:1163 |
Orofaciodigital Syndrome Vi |
|
Occipital meningocele, Hypoplastic left heart |
OMIM:277170 |
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Occipital encephalocele, Meningocele |
ORPHA:397715 |
Carpenter Syndrome 2 |
|
Dextrocardia, Situs inversus totalis, Patent ductus arteriosus, Transposition of the great arteri... |
OMIM:614976 |
Phakomatosis Pigmentokeratotica |
|
Spina bifida |
ORPHA:2874 |
Jacobsen Syndrome |
|
Ventricular septal defect, Spina bifida, Hypoplastic left heart, Intrauterine growth retardation,... |
ORPHA:2308 |
Lathosterolosis |
|
Intrauterine growth retardation, Meningocele |
ORPHA:46059 |
Thrombocytopenia-Absent Radius Syndrome |
|
Ventricular septal defect, Spina bifida, Patent ductus arteriosus, Atrial septal defect, Atrioven... |
OMIM:274000 |
Camptodactyly Syndrome, Guadalajara Type 3 |
|
Osteopenia, Abnormal rib morphology, Thickened cortex of long bones |
ORPHA:488434 |
Phaver Syndrome |
|
Abnormal rib morphology |
ORPHA:2876 |
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum |
|
Patent ductus arteriosus, Atrioventricular canal defect, Spina bifida |
OMIM:619480 |
Waardenburg Syndrome, Type 1 |
|
Myelomeningocele, Spina bifida |
OMIM:193500 |
Multiple Pterygium-Malignant Hyperthermia Syndrome |
|
Pectus excavatum, Abnormal rib morphology |
ORPHA:2215 |
Neu-Laxova Syndrome |
|
Intrauterine growth retardation, Spina bifida |
ORPHA:2671 |
Cenani-Lenz Syndrome |
|
Abnormal rib morphology |
ORPHA:3258 |
Koolen-De Vries Syndrome Due To A Point Mutation |
|
Bicuspid aortic valve, Ventricular septal defect, Spina bifida, Hydrocephalus, Abnormal heart mor... |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
|
Bicuspid aortic valve, Ventricular septal defect, Spina bifida, Hydrocephalus, Abnormal heart mor... |
ORPHA:363958 |
Duplication Of Urethra |
|
Chordee, Gastroschisis |
ORPHA:237 |
Nail-Patella Syndrome |
|
Spina bifida |
OMIM:161200 |
Curry-Jones Syndrome |
|
Occipital meningocele, Lipomyelomeningocele |
OMIM:601707 |
Schwartz-Jampel Syndrome |
|
Abnormally ossified vertebrae, Increased bone mineral density, Shoulder flexion contracture, Pect... |
ORPHA:800 |
Congenital Total Pulmonary Venous Return Anomaly |
|
Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Mitral atresia, Cardiomegaly, Pa... |
ORPHA:99125 |
Cloacal Exstrophy |
|
Myelomeningocele, Spina bifida |
ORPHA:93929 |
Hypoglossia-Hypodactyly Syndrome |
|
Gastroschisis |
ORPHA:989 |
Tetraamelia Syndrome 1 |
|
Hydrocephalus, Gastroschisis |
OMIM:273395 |
Otopalatodigital Syndrome Type 2 |
|
Increased bone mineral density, Abnormal rib morphology, Narrow chest |
ORPHA:90652 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Cor triatriatum, Ventricular septal defect, Dextrocardia, Aqueductal stenosis, Situs inversus tot... |
OMIM:619534 |
Hallermann-Streiff Syndrome |
|
Spina bifida |
OMIM:234100 |
Campomelic Dysplasia |
|
Hydrocephalus, Abnormal heart morphology, Spina bifida, Spinal dysraphism |
OMIM:114290 |
Autosomal Recessive Malignant Osteopetrosis |
|
Craniosynostosis, Abnormal rib morphology, Reduced bone mineral density, Narrow chest, Osteopetrosis |
ORPHA:667 |
Floating-Harbor Syndrome |
|
Atrial septal defect, Umbilical hernia, Mesocardia |
OMIM:136140 |
Cole-Carpenter Syndrome |
|
Abnormal rib morphology |
ORPHA:2050 |
Rubinstein-Taybi Syndrome 1 |
|
Ventricular septal defect, Spina bifida, Patent ductus arteriosus, Mitral valve prolapse, Perimem... |
OMIM:180849 |
Osteogenesis Imperfecta |
|
Osteopenia, Multiple rib fractures, Pectus excavatum, Osteoporosis, Abnormal rib morphology, Pect... |
ORPHA:666 |
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1 |
|
Osteopenia, Prominent sternum, 11 pairs of ribs, Pectus excavatum |
OMIM:617877 |
Phocomelia, Schinzel Type |
|
Intrauterine growth retardation, Meningocele |
ORPHA:2879 |
Alagille Syndrome |
|
Abnormal rib morphology |
ORPHA:52 |
Mosaic Trisomy 8 |
|
Abnormal rib morphology, Narrow chest |
ORPHA:96061 |
Mucopolysaccharidosis Type 3 |
|
Craniofacial hyperostosis, Abnormal rib morphology, Abnormal clavicle morphology, Reduced bone mi... |
ORPHA:581 |
Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Abnormal rib morphology, Narrow chest, Abnormal scapula morphology |
ORPHA:93317 |
Vacterl/Vater Association |
|
Abnormal rib morphology |
ORPHA:887 |
Marfan Syndrome |
|
Mitral valve calcification, Meningocele, Mitral valve prolapse |
ORPHA:558 |
Knobloch Syndrome 1 |
|
Occipital meningocele, Occipital encephalocele, Patent ductus arteriosus, Spina bifida occulta |
OMIM:267750 |
Holoprosencephaly 7 |
|
Alobar holoprosencephaly, Hydrocephalus, Lobar holoprosencephaly, Holoprosencephaly, Occipital me... |
OMIM:610828 |
Neurofibromatosis, Type I |
|
Aqueductal stenosis, Hydrocephalus, Spina bifida |
OMIM:162200 |
Myhre Syndrome |
|
Craniofacial hyperostosis, Abnormal rib morphology |
ORPHA:2588 |
Hurler Syndrome |
|
Abnormal clavicle morphology, Abnormal rib morphology |
ORPHA:93473 |
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia |
|
Meningocele |
ORPHA:1010 |
Split Cord Malformation |
|
Cervical spina bifida, Myelomeningocele, Lipomyelomeningocele, Meningocele, Hydrocephalus |
ORPHA:573278 |
Exstrophy-Epispadias Complex |
|
Hydrocephalus, Spina bifida, Abnormal heart morphology |
ORPHA:322 |
Autosomal Dominant Popliteal Pterygium Syndrome |
|
Abnormal rib morphology |
ORPHA:1300 |
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Hypoplastic scapulae, Abnormal rib morphology, Narrow chest, Craniosynostosis |
ORPHA:95699 |
Aicardi Syndrome |
|
Spina bifida |
OMIM:304050 |
Ear-Patella-Short Stature Syndrome |
|
Abnormal rib morphology, Aplastic clavicle, Craniosynostosis |
ORPHA:2554 |
Otopalatodigital Syndrome, Type Ii |
|
Spina bifida, Hydrocephalus, Stillbirth, Atrial septal defect, Umbilical hernia |
OMIM:304120 |
Monosomy 9Q22.3 |
|
Pectus excavatum, Abnormal rib morphology |
ORPHA:77301 |
Radio-Renal Syndrome |
|
Abnormal rib morphology |
ORPHA:3015 |
Floating-Harbor Syndrome |
|
Atrial septal defect, Mesocardia, Tetralogy of Fallot |
ORPHA:2044 |
Arima Syndrome |
|
Occipital meningocele |
OMIM:243910 |
Oculocerebrorenal Syndrome Of Lowe |
|
Abnormal rib morphology, Osteomalacia |
ORPHA:534 |
Hereditary Acrokeratotic Poikiloderma |
|
Abnormal rib morphology |
ORPHA:2907 |
Charge Syndrome |
|
Abnormal rib morphology, Abnormality of bone mineral density |
ORPHA:138 |
Simpson-Golabi-Behmel Syndrome |
|
Pectus excavatum, Abnormal rib morphology |
ORPHA:373 |
Monosomy 9P |
|
Abnormal rib morphology |
ORPHA:261112 |
Ulbright-Hodes Syndrome |
|
Short sternum, Abnormal rib morphology, Short ribs, Thin ribs |
ORPHA:3404 |
Kindler Epidermolysis Bullosa |
|
Abnormal rib morphology |
ORPHA:2908 |
Alagille Syndrome 1 |
|
Abnormal rib morphology |
OMIM:118450 |
Hemochromatosis, Type 1 |
|
Hypogonadotropic hypogonadism, Azoospermia, Impotence, Testicular atrophy, Amenorrhea |
OMIM:235200 |
Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
|
Occipital meningocele |
OMIM:276820 |
Charge Syndrome |
|
Abnormal rib morphology, Down-sloping shoulders |
OMIM:214800 |
Townes-Brocks Syndrome |
|
Abnormal rib morphology |
ORPHA:857 |
20P12.3 Microdeletion Syndrome |
|
Pectus carinatum |
ORPHA:261295 |
Brachydactyly Type A2 |
|
|
ORPHA:93396 |
Brachydactyly, Type A2 |
|
|
OMIM:112600 |