Disease Information for Townes Brocks syndrome

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Clinical Manifestations
Signs & Symptoms
Deformed hand/digits
Foot deformity
Hypoplastic thumb deformity
Typical Clinical Presentation
Intestinal obstruction/neonate
Disease Progression
Course/Chronic disorder
Course/Chronic only
Demographics & Risk Factors
Population Group
Child
Infant
Population/Pediatrics population
Sex & Age Groups
Population/Child
Population/Child-Infant Only
Population/Children/all
Population/Fetal-newborn
Population/Infant
Associated Diseases & Rule outs
Associated Disease & Complications
Anal Atresia
Congenital anomalies
Deafness
Deafness, congenital
Deafness, sensorineural
Ear deformities/congenital
Imperforate anus
Intestinal/bowel obstruction
Intestinal/Bowel Obstruction in Children
Disease Mechanism & Classification
Class
CLASS/Pediatric disorders (ex)
CLASS/Anal involvement/disorder (ex)
CLASS/Intestinal/stomach/gut (category)
CLASS/Extremities/Digits/Hand feet disorder (category)
CLASS/Hand involvement/disorder (ex)
Pathophysiology
Pathophysiology/Gene locus 16q12.1
Pathophysiology/Gene locus Chromosome 16
Pathophysiology/Gene Locus Identified/OMIM database
Pathophysiology/Genomic indentifiers (polymorphism/snip/mutations)
Pathophysiology/Maternal Chromosome mutation
Process
PROCESS/Congenital/developmental (category)
PROCESS/Eponymic (category)
PROCESS/Genetic disorder/Spontaneous mutations/sporadic
PROCESS/INCIDENCE/Esoteric disease (example)
PROCESS/Anomalies/Deformities/Malformations (EX)
Synonyms
Synonym
Townes Brocks syndrome, Synonym/Townes syndrome
Treatment
Surgical Procedures or Treatments
SX/Surgery
Definition

Congenital cluster of anomalies, eponymic diverse but often with imperforate anus, hand, foot, and ear deformities; hypoplastic thumbs and sensorineural deafness;genetic disorder not clearly medelian but likely mutation

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External Links Related to Townes Brocks 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)
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