Gastroschisis |
|
Gastroschisis, Abdominal wall defect |
OMIM:230750 |
Neurogenic Thoracic Outlet Syndrome |
|
Abnormal rib morphology |
ORPHA:100073 |
Endosteal Hyperostosis, Worth Type |
|
Clavicular sclerosis, Abnormal rib morphology, Generalized osteosclerosis, Abnormal cortical bone... |
ORPHA:2790 |
Spina Bifida-Hypospadias Syndrome |
|
Spinal dysraphism, Spina bifida |
ORPHA:3176 |
Gastroschisis |
|
Gastroschisis |
ORPHA:2368 |
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome |
|
Spina bifida, Anencephaly, Gastroschisis |
ORPHA:2476 |
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome |
|
Abnormal rib morphology |
ORPHA:2435 |
Thoraco-Abdominal Enteric Duplication |
|
Dextrocardia, Abnormal tricuspid valve morphology, Meningocele |
ORPHA:1759 |
Craniodiaphyseal Dysplasia |
|
Abnormal rib morphology, Craniofacial hyperostosis |
ORPHA:1513 |
Atrial Septal Defect 2 |
|
Atrial septal defect, Atrioventricular canal defect, Pulmonic stenosis, Ventricular septal defect... |
OMIM:607941 |
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome |
|
Abnormal rib morphology, Pectus carinatum |
ORPHA:3268 |
Spondylocostal Dysostosis 4, Autosomal Recessive |
|
Situs inversus totalis, Dextrocardia, Spina bifida occulta, Myelomeningocele |
OMIM:613686 |
Hyperparathyroidism, Transient Neonatal |
|
Narrow chest, Osteopenia, Thin ribs, Short ribs |
OMIM:618188 |
Atrioventricular Septal Defect, Susceptibility To, 2 |
|
Dextrocardia, Atrioventricular canal defect |
OMIM:606217 |
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases |
|
Mitral valve prolapse, Spina bifida |
OMIM:211960 |
Anencephaly 1 |
|
Spina bifida, Anencephaly |
OMIM:206500 |
Neural Tube Defects, X-Linked |
|
Spina bifida, Anencephaly |
OMIM:301410 |
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly |
|
Narrow chest, Horizontal ribs, Lateral clavicle hook, Short ribs |
OMIM:617405 |
Congenital Pseudoarthrosis Of The Clavicle |
|
Situs inversus totalis, Dextrocardia |
ORPHA:66630 |
Kyphomelic Dysplasia |
|
Narrow chest, Undulate ribs, Anterior rib cupping, Short thorax, Missing ribs, Lateral clavicle hook |
ORPHA:1801 |
Metatropic Dysplasia |
|
Narrow chest, Coarse metaphyseal trabecularization, Long thorax, Abnormal rib morphology, Abnorma... |
ORPHA:2635 |
Frontal Encephalocele |
|
Encephalocele, Spina bifida, Hydrocephalus |
ORPHA:1931 |
Grant Syndrome |
|
Sprengel anomaly, Narrow chest, Abnormality of the glenoid fossa, Abnormal rib morphology, Abnorm... |
ORPHA:2097 |
Ciliary Dyskinesia, Primary, 39 |
|
Double outlet right ventricle, Dextrocardia |
OMIM:618254 |
Ophthalmoplegia, External, And Myopia |
|
Spina bifida |
OMIM:311000 |
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility |
|
Situs inversus totalis, Dextrocardia |
OMIM:618948 |
Acalvaria |
|
Hydrocephalus, Spina bifida, Holoprosencephaly |
ORPHA:945 |
Heterotaxy, Visceral, 6, Autosomal |
|
Double outlet right ventricle, Hypoplastic left heart, Unbalanced atrioventricular canal defect, ... |
OMIM:614779 |
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly |
|
Narrow chest, Bell-shaped thorax, Horizontal ribs, Thoracic dysplasia, Lateral clavicle hook |
OMIM:615633 |
Spondylocostal Dysostosis 3, Autosomal Recessive |
|
Rib fusion, Supernumerary vertebral ossification centers |
OMIM:609813 |
Ciliary Dyskinesia, Primary, 25 |
|
Situs inversus totalis, Dextrocardia |
OMIM:615482 |
Dextrocardia With Unusual Facies And Microphthalmia |
|
Dextrocardia |
OMIM:221950 |
Catel-Manzke Syndrome |
|
Ventricular septal defect, Dextrocardia, Umbilical hernia, Overriding aorta, Intrauterine growth ... |
OMIM:616145 |
Achondrogenesis Type 1B |
|
Narrow chest, Abnormal enchondral ossification, Short thorax, Abnormal rib morphology |
ORPHA:93298 |
Ciliary Dyskinesia, Primary, 7 |
|
Situs inversus totalis, Dextrocardia |
OMIM:611884 |
Cerebral-Cerebellar-Coloboma Syndrome, X-Linked |
|
Abnormal rib morphology |
OMIM:300864 |
Osteogenesis Imperfecta, Type Ix |
|
Decreased calvarial ossification, Pectus excavatum, Beaded ribs, Pectus carinatum |
OMIM:259440 |
Heterotaxy, Visceral, 2, Autosomal |
|
Double outlet right ventricle, Atrioventricular canal defect, Situs inversus totalis, Dextrocardi... |
OMIM:605376 |
Ciliary Dyskinesia, Primary, 20 |
|
Situs inversus totalis, Dextrocardia |
OMIM:615067 |
Heart Defects-Limb Shortening Syndrome |
|
Narrow chest, Abnormal rib morphology |
ORPHA:1354 |
Ciliary Dyskinesia, Primary, 38 |
|
Situs inversus totalis, Dextrocardia |
OMIM:618063 |
Short Stature-Wormian Bones-Dextrocardia Syndrome |
|
Dextrocardia, Patent ductus arteriosus |
ORPHA:2863 |
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
|
Bicuspid aortic valve, Anomalous pulmonary venous return, Atrial septal defect, Atrioventricular ... |
ORPHA:1120 |
Right Atrial Isomerism |
|
Atrial septal defect, Pulmonic stenosis, Single ventricle, Right atrial isomerism, Tetralogy of F... |
OMIM:208530 |
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies |
|
Abnormal rib morphology, Hypoplastic distal segments of scapulae, Pectus excavatum |
OMIM:602196 |
Jeune Syndrome |
|
Narrow chest, Abnormal sternum morphology, Abnormal clavicle morphology, Abnormal rib morphology,... |
ORPHA:474 |
Czeizel-Losonci Syndrome |
|
Myelomeningocele, Hydrocephalus, Spina bifida occulta, Dextrocardia, Spina bifida |
ORPHA:2437 |
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Narrow chest, Abnormal clavicle morphology, Decreased skull ossification, Abnormal rib morphology |
ORPHA:93267 |
Ciliary Dyskinesia, Primary, 37 |
|
Situs inversus totalis, Dextrocardia |
OMIM:617577 |
Isolated Klippel-Feil Syndrome |
|
Ventricular septal defect, Spina bifida |
ORPHA:2345 |
Heterotaxy, Visceral, 4, Autosomal |
|
Atrioventricular canal defect, Dextrotransposition of the great arteries, Ventricular septal defe... |
OMIM:613751 |
Ciliary Dyskinesia, Primary, 17 |
|
Situs inversus totalis, Dextrocardia |
OMIM:614679 |
Cortical Defects, Wormian Bones, And Dentinogenesis Imperfecta |
|
Asymmetry of the thorax, Hyperostosis, Thin ribs |
OMIM:604922 |
Thoracoabdominal Syndrome |
|
Hydrocephalus, Anencephaly, Ectopia cordis, Patent ductus arteriosus, Transposition of the great ... |
OMIM:313850 |
Heterotaxy, Visceral, 7, Autosomal |
|
Abnormal cardiac septum morphology, Atrial septal defect, Atrioventricular canal defect, Abnormal... |
OMIM:616749 |
Nevus Comedonicus Syndrome |
|
Spina bifida, Spina bifida occulta |
ORPHA:64754 |
Thoracolaryngopelvic Dysplasia |
|
Irregular chondrocostal junctions, Horizontal ribs, Bell-shaped thorax, Short ribs |
OMIM:187760 |
Total Anomalous Pulmonary Venous Return 1 |
|
Dextrocardia, Total anomalous pulmonary venous return |
OMIM:106700 |
Schisis Association |
|
Encephalocele, Spina bifida, Anencephaly |
ORPHA:63862 |
Achondrogenesis, Type Ia |
|
Narrow chest, Short clavicles, Short ribs, Barrel-shaped chest, Broad clavicles, Bell-shaped thor... |
OMIM:200600 |
Iniencephaly |
|
Myelomeningocele, Hydrocephalus, Holoprosencephaly, Anencephaly, Spinal dysraphism, Omphalocele, ... |
ORPHA:63259 |
Poland Syndrome |
|
Dextrocardia |
OMIM:173800 |
10Q22.3Q23.3 Microduplication Syndrome |
|
Abnormal rib morphology, Abnormal clavicle morphology |
ORPHA:276422 |
Heterotaxy, Visceral, 8, Autosomal |
|
Double outlet right ventricle, Hypoplastic left heart, Atrial situs inversus, Unbalanced atrioven... |
OMIM:617205 |
Pseudotrisomy 13 Syndrome |
|
Tricuspid atresia, Hydrocephalus, Atrial septal defect, Holoprosencephaly, Ventricular septal def... |
OMIM:264480 |
Ciliary Dyskinesia, Primary, 30 |
|
Situs inversus totalis, Dextrocardia |
OMIM:616037 |
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome |
|
Abnormal rib morphology, Decreased calvarial ossification |
ORPHA:2772 |
Autosomal Dominant Spondylocostal Dysostosis |
|
Abnormal rib morphology, Posterior rib fusion, Short thorax, Missing ribs |
ORPHA:1797 |
Cardiac Diverticulum |
|
Tricuspid atresia, Mitral stenosis, Bicuspid aortic valve, Atrial septal defect, Aortic valve ste... |
ORPHA:1686 |
Lethal Congenital Contracture Syndrome Type 1 |
|
Abnormal rib morphology, Abnormal cortical bone morphology |
ORPHA:1486 |
Ciliary Dyskinesia, Primary, 2 |
|
Situs inversus totalis, Dextrocardia |
OMIM:606763 |
Hypophosphatasia |
|
Narrow chest, Abnormal rib morphology, Craniosynostosis |
ORPHA:436 |
Heterotaxy, Visceral, 1, X-Linked |
|
Hydrocephalus, Atrioventricular canal defect, Ventricular septal defect, Cardiomegaly, Double out... |
OMIM:306955 |
Fryns Microphthalmia Syndrome |
|
Neural tube defect |
OMIM:600776 |
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility |
|
Situs inversus totalis, Dextrocardia |
OMIM:619607 |
Chiari Malformation Type Ii |
|
Myelomeningocele, Hydrocephalus, Spina bifida, Cervical myelopathy |
OMIM:207950 |
Craniorachischisis |
|
Myelomeningocele, Cervical spina bifida, Anencephaly, Sirenomelia, Spinal dysraphism |
ORPHA:63260 |
Caudal Duplication |
|
Myelomeningocele, Spina bifida |
ORPHA:1756 |
Mosaic Trisomy 14 |
|
Narrow chest, Abnormal rib morphology |
ORPHA:1703 |
Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Abnormal rib morphology, Osteoporosis, Pectus carinatum |
ORPHA:93351 |
Mosaic Trisomy 9 |
|
Atrial septal defect, Endocardial fibroelastosis, Ventricular septal defect, Dextrocardia, Patent... |
ORPHA:99776 |
Thin Ribs-Tubular Bones-Dysmorphism Syndrome |
|
Abnormal rib morphology |
ORPHA:1506 |
Meacham Syndrome |
|
Cardiac total anomalous pulmonary venous connection, Bicuspid aortic valve, Atrial septal defect,... |
OMIM:608978 |
Constricting Bands, Congenital |
|
Encephalocele, Gastroschisis, Bladder exstrophy, Omphalocele |
OMIM:217100 |
Acropectorovertebral Dysplasia |
|
Spina bifida |
ORPHA:957 |
Joubert Syndrome With Ocular Defect |
|
Dextrocardia, Encephalocele, Hydrocephalus |
ORPHA:220493 |
Melnick-Needles Syndrome |
|
Narrow chest, Short clavicles, Osteolytic defects of the phalanges of the hand, Abnormal rib morp... |
ORPHA:2484 |
Ciliary Dyskinesia, Primary, 22 |
|
Situs inversus totalis, Dextrocardia |
OMIM:615444 |
Limb Body Wall Complex |
|
Myelomeningocele, Hydrocephalus, Atrial septal defect, Short umbilical cord, Anencephaly, Spina b... |
ORPHA:2369 |
Cooper-Jabs Syndrome |
|
Abnormal rib morphology, Missing ribs, Reduced bone mineral density |
ORPHA:1488 |
Secondary Short Bowel Syndrome |
|
Failure to thrive, Weight loss, Gastroschisis |
ORPHA:95427 |
Craniosynostosis, Herrmann-Opitz Type |
|
Abnormal rib morphology, Craniosynostosis |
ORPHA:2145 |
Gm1 Gangliosidosis |
|
Failure to thrive, Inguinal hernia, Aplasia/Hypoplasia of the abdominal wall musculature, Weight ... |
ORPHA:354 |
Colonic Atresia |
|
Gastroschisis, Omphalocele |
ORPHA:1198 |
Camptodactyly Syndrome, Guadalajara Type 1 |
|
Spina bifida, Intrauterine growth retardation |
ORPHA:1327 |
Thoracic Outlet Syndrome |
|
Abnormal rib morphology |
ORPHA:97330 |
Cat-Eye Syndrome |
|
Abnormal rib morphology |
ORPHA:195 |
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy |
|
Double outlet right ventricle, Anomalous pulmonary venous return, Atrial septal defect, Pulmonic ... |
OMIM:619657 |
Bardet-Biedl Syndrome 17 |
|
Situs inversus totalis, Dextrocardia |
OMIM:615994 |
Heterotaxy, Visceral, 12, Autosomal |
|
Double outlet right ventricle, Double inlet right ventricle, Atrial septal defect, Hypoplastic le... |
OMIM:619702 |
Diastrophic Dysplasia |
|
Abnormal rib morphology, Abnormal clavicle morphology, Increased bone mineral density |
ORPHA:628 |
Cardiac-Urogenital Syndrome |
|
Atrial septal defect, Hypoplastic left heart, Scimitar anomaly, Tetralogy of Fallot, Ventricular ... |
OMIM:618280 |
Dextrocardia |
|
Situs inversus totalis, Dextrocardia, Hydrocephalus, Abnormal heart morphology |
ORPHA:1666 |
Cerebrocostomandibular Syndrome |
|
Myelomeningocele, Hydranencephaly, Ventricular septal defect, Meningocele, Spina bifida, Intraute... |
ORPHA:1393 |
Primary Pulmonary Hypoplasia |
|
Dextrocardia, Secundum atrial septal defect, Intrauterine growth retardation |
ORPHA:2257 |
Congenitally Corrected Transposition Of The Great Arteries |
|
Ventricular septal defect, Abnormal aortic valve cusp morphology, Abnormal heart morphology, Righ... |
ORPHA:216694 |
Congenital Disorder Of Glycosylation, Type Iig |
|
Abnormal rib morphology, Osteopenia |
OMIM:611209 |
Scimitar Syndrome |
|
Tricuspid atresia, Double outlet right ventricle, Anomalous pulmonary venous return, Atrial septa... |
ORPHA:185 |
Knobloch Syndrome |
|
Dextrocardia, Occipital encephalocele, Hydrocephalus, Patent ductus arteriosus |
ORPHA:1571 |
Amish Lethal Microcephaly |
|
Spina bifida |
ORPHA:99742 |
Blepharocheilodontic Syndrome 1 |
|
Neural tube defect |
OMIM:119580 |
Pyknoachondrogenesis |
|
Sclerosis of skull base, Enlarged thorax, Short ribs, Poorly ossified vertebrae, Horizontal ribs,... |
ORPHA:3003 |
Microcephalic Primordial Dwarfism, Toriello Type |
|
Abnormal rib morphology |
ORPHA:2643 |
Hypertelorism-Hypospadias-Polysyndactyly Syndrome |
|
Exencephaly, Encephalocele |
ORPHA:2211 |
Microcephaly-Cervical Spine Fusion Anomalies Syndrome |
|
Abnormal clavicle morphology, Pectus excavatum, Abnormal rib morphology |
ORPHA:2522 |
Anophthalmia Plus Syndrome |
|
Spina bifida |
ORPHA:1104 |
Renpenning Syndrome |
|
Sprengel anomaly, Pectus excavatum, Abnormal rib morphology |
ORPHA:3242 |
White Forelock With Malformations |
|
Sprengel anomaly, Abnormal rib morphology |
ORPHA:2475 |
Necrotizing Enterocolitis |
|
Gastroschisis, Small for gestational age |
ORPHA:391673 |
Proximal 16P11.2 Microdeletion Syndrome |
|
Dextrocardia, Atrial septal defect, Abnormal aortic valve morphology, Abnormal heart morphology |
ORPHA:261197 |
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome |
|
Abnormal rib morphology, Craniofacial hyperostosis, Pectus carinatum |
ORPHA:3068 |
Marden-Walker Syndrome |
|
Dextrocardia, Intrauterine growth retardation |
OMIM:248700 |
Fibrochondrogenesis |
|
Narrow chest, Short ribs, Bell-shaped thorax, Abnormal rib morphology, Hypoplastic scapulae, Broa... |
ORPHA:2021 |
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome |
|
Dextrocardia, Atrioventricular canal defect |
OMIM:618929 |
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2 |
|
Abnormal rib morphology |
ORPHA:2578 |
Sirenomelia |
|
Spina bifida, Sirenomelia |
ORPHA:3169 |
Johanson-Blizzard Syndrome |
|
Dextrocardia, Abnormal cardiac septum morphology, Intrauterine growth retardation |
ORPHA:2315 |
Holt-Oram Syndrome |
|
Sprengel anomaly, Abnormal clavicle morphology, Pectus excavatum, Down-sloping shoulders, Abnorma... |
ORPHA:392 |
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome |
|
Abnormal rib morphology, Abnormally ossified vertebrae |
ORPHA:3035 |
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease |
|
Situs inversus totalis, Dextrocardia |
OMIM:613095 |
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome |
|
Abnormal rib morphology, Abnormal sternum morphology, Broad ribs, Short ribs |
ORPHA:2519 |
Femoral-Facial Syndrome |
|
Sprengel anomaly, Rib fusion, Abnormal rib morphology |
ORPHA:1988 |
Chromosome 15Q25 Deletion Syndrome |
|
Abnormal cardiac septum morphology, Ventricular septal defect, Dextrocardia, Coronary artery fist... |
OMIM:614294 |
Fountain Syndrome |
|
Spina bifida, Spina bifida occulta |
ORPHA:3219 |
Male Pseudohermaphroditism/Mental Retardation Syndrome, Verloes Type |
|
Cervical spina bifida |
OMIM:600122 |
Septopreoptic Holoprosencephaly |
|
Abnormal rib morphology |
ORPHA:280195 |
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies |
|
Sprengel anomaly, Abnormal rib morphology |
OMIM:601076 |
Heterotaxy, Visceral, 5, Autosomal |
|
Double outlet right ventricle, Atrial septal defect, Double inlet left ventricle, Atrioventricula... |
OMIM:270100 |
Waardenburg Syndrome Type 1 |
|
Spina bifida, Meningocele |
ORPHA:894 |
Imperforate Oropharynx-Costovertebral Anomalies Syndrome |
|
Abnormal rib morphology, Missing ribs |
ORPHA:2759 |
Pagod Syndrome |
|
Hypoplastic left heart, Situs inversus totalis, Meningocele, Encephalocele, Spina bifida |
ORPHA:991 |
Mucopolysaccharidosis Type 4 |
|
Abnormal rib morphology, Short thorax, Pectus carinatum, Reduced bone mineral density |
ORPHA:582 |
Fibrous Dysplasia Of Bone |
|
Abnormal clavicle morphology, Fibrous dysplasia of the bones, Osteomalacia, Thin bony cortex, Abn... |
ORPHA:249 |
Ellis Van Creveld Syndrome |
|
Atrial septal defect, Atrioventricular canal defect, Ventricular septal defect, Situs inversus to... |
ORPHA:289 |
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome |
|
Sprengel anomaly, Abnormal rib morphology |
ORPHA:2180 |
Campomelia, Cumming Type |
|
Abnormal rib morphology, Abnormal thorax morphology, Abnormally ossified vertebrae |
ORPHA:1318 |
Distal Trisomy 5Q |
|
Ventricular septal defect, Dextrocardia |
ORPHA:96097 |
Holzgreve Syndrome |
|
Abnormal rib morphology, Abnormally ossified vertebrae |
ORPHA:2167 |
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome |
|
Abnormal rib morphology, Pectus carinatum |
ORPHA:3082 |
8P Inverted Duplication/Deletion Syndrome |
|
Dextrocardia, Tetralogy of Fallot, Abnormal heart morphology |
ORPHA:96092 |
Autosomal Recessive Spondylocostal Dysostosis |
|
Abnormal rib morphology, Rib fusion, Short thorax, Rib segmentation abnormalities |
ORPHA:2311 |
Microcephaly-Micromelia Syndrome |
|
Narrow chest, Abnormal rib morphology, Craniosynostosis |
OMIM:251230 |
Mesomelic Dysplasia, Kantaputra Type |
|
Abnormal rib morphology |
ORPHA:1836 |
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome |
|
Abnormal rib morphology |
ORPHA:2234 |
Cleidocranial Dysplasia |
|
Narrow chest, Short clavicles, Down-sloping shoulders, Osteoporosis, Abnormal rib morphology, Hyp... |
ORPHA:1452 |
Antley-Bixler Syndrome |
|
Narrow chest, Abnormal rib morphology, Craniosynostosis |
ORPHA:83 |
Pelvis-Shoulder Dysplasia |
|
Hydrocephalus, Spina bifida, Hydranencephaly |
ORPHA:2839 |
Acrofacial Dysostosis 1, Nager Type |
|
Hydrocephalus, Aqueductal stenosis, Gastroschisis |
OMIM:154400 |
Marden-Walker Syndrome |
|
Hydrocephalus, Abnormal anatomic location of the heart, Ventricular septal defect, Dextrocardia, ... |
ORPHA:2461 |
Tetraamelia-Multiple Malformations Syndrome |
|
Abnormal rib morphology, Missing ribs, Abnormally ossified vertebrae |
ORPHA:3301 |
Trisomy 18 |
|
Atrial septal defect, Holoprosencephaly, Anencephaly, Ventricular septal defect, Spina bifida, In... |
ORPHA:3380 |
Laryngotracheoesophageal Cleft Type 4 |
|
Abnormal rib morphology |
ORPHA:93941 |
Neu-Laxova Syndrome 1 |
|
Intrauterine growth retardation, Short umbilical cord, Hydranencephaly, Ventricular septal defect... |
OMIM:256520 |
Fibular Hemimelia |
|
Spina bifida, Abnormal heart morphology |
ORPHA:93323 |
Focal Dermal Hypoplasia |
|
Abnormal cardiac septum morphology, Ventricular septal defect, Patent ductus arteriosus, Umbilica... |
ORPHA:2092 |
Trisomy 13 |
|
Narrow chest, Abnormal rib morphology |
ORPHA:3378 |
Prune Belly Syndrome |
|
Abnormal rib morphology, Pectus excavatum |
ORPHA:2970 |
Klippel-Feil Syndrome 1, Autosomal Dominant |
|
Sprengel anomaly, Abnormal rib morphology |
OMIM:118100 |
Familial Osteodysplasia, Anderson Type |
|
Aplastic clavicle, Abnormal cortical bone morphology, Missing ribs, Abnormal rib morphology |
ORPHA:2769 |
Posterior Meningocele |
|
Occipital meningocele, Hydrocephalus, Neural tube defect, Meningocele, Lipomyelomeningocele |
ORPHA:268810 |
Juberg-Hayward Syndrome |
|
Abnormal rib morphology |
ORPHA:2319 |
Neu-Laxova Syndrome 2 |
|
Spina bifida, Intrauterine growth retardation |
OMIM:616038 |
Trisomy 20P |
|
Spina bifida, Umbilical hernia |
ORPHA:261318 |
Kyphoscoliotic Ehlers-Danlos Syndrome |
|
Dextrocardia, Bicuspid aortic valve, Umbilical hernia |
ORPHA:536545 |
Vacterl With Hydrocephalus |
|
Hydrocephalus, Aqueductal stenosis, Arrhinencephaly, Spina bifida, Intrauterine growth retardation |
ORPHA:3412 |
Basal Cell Nevus Syndrome |
|
Cardiac fibroma, Spina bifida, Cardiac rhabdomyoma, Hydrocephalus |
OMIM:109400 |
22Q11.2 Deletion Syndrome |
|
Tricuspid atresia, Abnormal pulmonary valve morphology, Hydrocephalus, Atrial septal defect, Abno... |
ORPHA:567 |
Restrictive Dermopathy |
|
Atrial septal defect, Short umbilical cord, Small placenta, Dextrocardia, Patent ductus arteriosu... |
ORPHA:1662 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Bicuspid aortic valve, Atrioventricular canal defect, Tetralogy of Fallot, Ventricular septal def... |
ORPHA:508498 |
Oculocerebrocutaneous Syndrome |
|
Abnormal rib morphology, Missing ribs |
ORPHA:1647 |
Poland Syndrome |
|
Dextrocardia, Encephalocele, Atrial septal defect, Spina bifida occulta |
ORPHA:2911 |
Microphthalmia, Syndromic 2 |
|
Double outlet right ventricle, Atrial septal defect, Aortic valve stenosis, Pulmonic stenosis, Ve... |
OMIM:300166 |
Cartilage-Hair Hypoplasia |
|
Narrow chest, Abnormal bone ossification, Abnormally ossified vertebrae, Pectus carinatum, Abnorm... |
ORPHA:175 |
Axial Mesodermal Dysplasia Spectrum |
|
Abnormal rib morphology, Missing ribs |
ORPHA:1834 |
Trisomy 1Q |
|
Abnormal rib morphology, Short thorax |
ORPHA:261344 |
Microcephaly, Short Stature, And Limb Abnormalities |
|
Abnormal rib morphology |
OMIM:617604 |
Lumbar Syndrome |
|
Myelomeningocele, Spina bifida |
ORPHA:83628 |
Fanconi Anemia |
|
Abnormal cardiac septum morphology, Hydrocephalus, Atrial septal defect, Abnormal aortic valve mo... |
ORPHA:84 |
Tetrasomy 9P |
|
Abnormal mitral valve morphology, Abnormal cardiac septum morphology, Hydrocephalus, Dextrocardia... |
ORPHA:3310 |
Smith-Lemli-Opitz Syndrome |
|
Gastroschisis, Holoprosencephaly |
ORPHA:818 |
Camptodactyly Syndrome, Guadalajara Type 3 |
|
Abnormal rib morphology, Osteopenia, Thickened cortex of long bones |
ORPHA:488434 |
Jacobsen Syndrome |
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Aortic valve stenosis, Hypoplastic left heart, Ventricular septal defect, Spina bifida, Intrauter... |
ORPHA:2308 |
Thrombocytopenia-Absent Radius Syndrome |
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Atrial septal defect, Atrioventricular canal defect, Tetralogy of Fallot, Ventricular septal defe... |
OMIM:274000 |
Aspergillosis |
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Abnormal rib morphology |
ORPHA:1163 |
Tetraamelia Syndrome 1 |
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Hydrocephalus, Gastroschisis |
OMIM:273395 |
Neu-Laxova Syndrome |
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Spina bifida, Intrauterine growth retardation |
ORPHA:2671 |
Vater/Vacterl Association |
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Intrauterine growth retardation, Tetralogy of Fallot, Ventricular septal defect, Patent ductus ar... |
OMIM:192350 |
Ifap Syndrome 1, With Or Without Bresheck Syndrome |
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Abnormal rib morphology, Unilateral chest hypoplasia |
OMIM:308205 |
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum |
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Spina bifida, Patent ductus arteriosus, Atrioventricular canal defect |
OMIM:619480 |
Waardenburg Syndrome, Type 1 |
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Myelomeningocele, Spina bifida |
OMIM:193500 |
Duplication Of Urethra |
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Chordee, Gastroschisis |
ORPHA:237 |
Congenital Total Pulmonary Venous Return Anomaly |
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Double outlet right ventricle, Cardiac total anomalous pulmonary venous connection, Atrial septal... |
ORPHA:99125 |
Nail-Patella Syndrome |
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Spina bifida |
OMIM:161200 |
Multiple Pterygium-Malignant Hyperthermia Syndrome |
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Abnormal rib morphology, Pectus excavatum |
ORPHA:2215 |
Cenani-Lenz Syndrome |
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Abnormal rib morphology |
ORPHA:3258 |
Phaver Syndrome |
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Abnormal rib morphology |
ORPHA:2876 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
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Hydrocephalus, Secundum atrial septal defect, Primum atrial septal defect, Aqueductal stenosis, A... |
OMIM:619534 |
Koolen-De Vries Syndrome Due To A Point Mutation |
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Bicuspid aortic valve, Hydrocephalus, Atrial septal defect, Pulmonic stenosis, Ventricular septal... |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
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Bicuspid aortic valve, Hydrocephalus, Atrial septal defect, Pulmonic stenosis, Ventricular septal... |
ORPHA:363958 |
Schwartz-Jampel Syndrome |
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Sprengel anomaly, Pectus excavatum, Increased bone mineral density, Abnormally ossified vertebrae... |
ORPHA:800 |
Otopalatodigital Syndrome Type 2 |
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Narrow chest, Increased bone mineral density, Abnormal rib morphology |
ORPHA:90652 |
Cloacal Exstrophy |
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Myelomeningocele, Spina bifida |
ORPHA:93929 |
Campomelic Dysplasia |
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Spinal dysraphism, Spina bifida, Hydrocephalus, Abnormal heart morphology |
OMIM:114290 |
Floating-Harbor Syndrome |
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Mesocardia, Umbilical hernia, Atrial septal defect |
OMIM:136140 |
Autosomal Recessive Malignant Osteopetrosis |
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Narrow chest, Reduced bone mineral density, Osteopetrosis, Craniosynostosis, Abnormal rib morphology |
ORPHA:667 |
Carpenter Syndrome 2 |
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Atrial septal defect, Situs inversus totalis, Dextrocardia, Patent ductus arteriosus, Transpositi... |
OMIM:614976 |
Rubinstein-Taybi Syndrome 1 |
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Atrial septal defect, Hypoplastic left heart, Spina bifida occulta, Ventricular septal defect, Mi... |
OMIM:180849 |
Hypoglossia-Hypodactyly Syndrome |
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Gastroschisis |
ORPHA:989 |
Osteogenesis Imperfecta |
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Narrow chest, Pectus excavatum, Thin ribs, Multiple rib fractures, Osteopenia, Osteoporosis, Pect... |
ORPHA:666 |
Hallermann-Streiff Syndrome |
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Spina bifida |
OMIM:234100 |
Cole-Carpenter Syndrome |
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Abnormal rib morphology |
ORPHA:2050 |
Alagille Syndrome |
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Abnormal rib morphology |
ORPHA:52 |
Mucopolysaccharidosis Type 3 |
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Abnormal rib morphology, Abnormal clavicle morphology, Craniofacial hyperostosis, Reduced bone mi... |
ORPHA:581 |
Mosaic Trisomy 8 |
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Narrow chest, Abnormal rib morphology |
ORPHA:96061 |
Spondylometaphyseal Dysplasia, Sedaghatian Type |
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Abnormal scapula morphology, Narrow chest, Abnormal rib morphology |
ORPHA:93317 |
Vacterl/Vater Association |
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Abnormal rib morphology |
ORPHA:887 |
Myhre Syndrome |
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Abnormal rib morphology, Craniofacial hyperostosis |
ORPHA:2588 |
Hurler Syndrome |
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Abnormal rib morphology, Abnormal clavicle morphology |
ORPHA:93473 |
Neurofibromatosis, Type I |
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Hydrocephalus, Spina bifida, Aqueductal stenosis |
OMIM:162200 |
Exstrophy-Epispadias Complex |
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Hydrocephalus, Spina bifida, Abnormal heart morphology |
ORPHA:322 |
Aicardi Syndrome |
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Spina bifida |
OMIM:304050 |
Autosomal Dominant Popliteal Pterygium Syndrome |
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Abnormal rib morphology |
ORPHA:1300 |
Ear-Patella-Short Stature Syndrome |
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Aplastic clavicle, Abnormal rib morphology, Craniosynostosis |
ORPHA:2554 |
Floating-Harbor Syndrome |
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Mesocardia, Tetralogy of Fallot, Atrial septal defect |
ORPHA:2044 |
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
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Narrow chest, Hypoplastic scapulae, Abnormal rib morphology, Craniosynostosis |
ORPHA:95699 |
Monosomy 9Q22.3 |
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Abnormal rib morphology, Pectus excavatum |
ORPHA:77301 |
Radio-Renal Syndrome |
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Abnormal rib morphology |
ORPHA:3015 |
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1 |
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Pulmonic stenosis, Spina bifida occulta, Transposition of the great arteries, Perimembranous vent... |
OMIM:617877 |
Hereditary Acrokeratotic Poikiloderma |
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Abnormal rib morphology |
ORPHA:2907 |
Oculocerebrorenal Syndrome Of Lowe |
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Abnormal rib morphology, Osteomalacia |
ORPHA:534 |
Split Cord Malformation |
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Myelomeningocele, Hydrocephalus, Cervical spina bifida, Meningocele, Lipomyelomeningocele |
ORPHA:573278 |
Charge Syndrome |
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Abnormal rib morphology, Abnormality of bone mineral density |
ORPHA:138 |
Simpson-Golabi-Behmel Syndrome |
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Abnormal rib morphology, Pectus excavatum |
ORPHA:373 |
Monosomy 9P |
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Abnormal rib morphology |
ORPHA:261112 |
Ulbright-Hodes Syndrome |
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Abnormal rib morphology, Short sternum, Thin ribs, Short ribs |
ORPHA:3404 |
Kindler Epidermolysis Bullosa |
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Abnormal rib morphology |
ORPHA:2908 |
Hemochromatosis, Type 1 |
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Amenorrhea, Testicular atrophy, Impotence, Hypogonadotropic hypogonadism, Azoospermia |
OMIM:235200 |
Alagille Syndrome 1 |
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Abnormal rib morphology |
OMIM:118450 |
Charge Syndrome |
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Abnormal rib morphology, Down-sloping shoulders |
OMIM:214800 |
Townes-Brocks Syndrome |
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Abnormal rib morphology |
ORPHA:857 |
20P12.3 Microdeletion Syndrome |
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Pectus carinatum |
ORPHA:261295 |
Brachydactyly Type A2 |
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ORPHA:93396 |
Brachydactyly, Type A2 |
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OMIM:112600 |