Disease Information for Kaufman/VATER Syndrome

Ads
Clinical Manifestations
Signs & Symptoms
Particular physiognomy/Odd looking kids
Craniofacial Abnormalities/Congenital
Depressed nasal bridge
Potter congenital facies
Mental Deficiency Child
Postaxial polydactyly
Epicanthal folds
Flattened palpebral fissures
Anomalous ears/deformities
Low set ears/congenital
Clinical Presentation & Variations
Presentation/Multiple deformities newborn (odd look)
Demographics & Risk Factors
Population Group
Child
Infant
Population/Pediatrics population
Sex & Age Groups
Population/Children/all
Population/Infant
Diagnostic Test Results
X-RAY
Xray/Hemivertebrae deformity/Spine
Associated Diseases & Rule outs
Associated Disease & Complications
Anal Atresia
Atrial septal defect
Congenital anomalies
Congenital hydronephrosis
Duodenum, atresia
Esophageal atresia
Facial dysplasia
Hypospadius anomaly
Imperforate anus
Laryngostenosis
Mental retardation
Micrognathia/congenital small chin
Multiple Congenital Anomalies
Multiple congenital anomalies/Mental retardation
Polydactyly/Supernumery digits
Renal anomalies
Spondylocostal dysplasia
Tetralogy of Fallot
Tracheo-esophageal fistula, congenital
Transposition great vessels
Urethral atresia
Ventricular septal defect
Vertebrae Anomalies
Vertebral anomalies
Disease Mechanism & Classification
Class
CLASS/Jablonski/NIH Archive Anomalies Database
CLASS/Pediatric disorders (ex)
Pathophysiology
Pathophysiology/Maternal Chromosome mutation
Process
PROCESS/Autosomal dominant hereditary disease (ex).
PROCESS/Congenital/developmental (category)
PROCESS/Eponymic (category)
PROCESS/Genetic disorder/Spontaneous mutations/sporadic
PROCESS/Hereditofamilial (category)
PROCESS/INCIDENCE/Rare disease (ex)
PROCESS/Anomalies/Deformities/Malformations (EX)
PROCESS/Dystostosis/craniofacial (ex)
PROCESS/Vertebral anomalous congenital syndrome
Synonyms
Synonym
syndrome VATER, VATER anomalad, VATER ASSOCIATION, VATER association (disorder), VATER association (dup) (disorder), VATER syndrome, Vertebral anomalies dysgenesis anal atresia tracheo esophageal fistula esophageal atresia renal anomalies radial dysplasia (VATER) association, Vertebral anomalies dysgenesis anal atresia tracheo esophageal fistula esophageal atresia renal anomalies radial dysplasia (VATER) association (disorder), Vertebral anomalies dysgenesis anal atresia tracheo esophageal fistula oesophageal atresia renal anomalies radial dysplasia (VATER) association, Vertebral anomalies dysgenesis anal atresia tracheo oesophageal fistula oesophageal atresia renal anomalies radial dysplasia (VATER) association, Synonym/Say-Gerard/Quan-Smith syndrome
Definition

Originally reported as VATER association, the syndrome consists of an association of vertebral abnormalities, anal atresia, cardiovascular defects, tracheoesophageal fistula, esophageal atresia, renal agenesis or dysplasia, and limb abnormalities; Additional abnormalities later observed in VATER patients include vertebral anomalies, and spondylocostal dysplasia, and intestinal, cardiac, renal, and respiratory malformations, leading to expansion of the acronym to VACERL association; Central nervous system malformations and mental retardation were noted in a small number of cases; The acronyms emphasize only the most frequently malformations and a wide variety of other defects affecting most parts of the body may be associated; See also VACTERL association with hydrocephalus syndrome

-----------------[Jablonski/NIH Archive database 2007]--------------

(Edit)

External Links Related to Kaufman/VATER Syndrome
Google
Wikipedia
Merck
Images
PubMed (National Library of Medicine)
NGC (National Guideline Clearinghouse)
Medscape (eMedicine)
Harrison's Online (accessmedicine)
NEJM (The New England Journal of Medicine)
Ads