Disease Information for Hirschsprung disease

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Clinical Manifestations
Signs & Symptoms
Abdominal Distension
Abdominal Distension in Children
Abdominal distension/protrusion/sign
Abdominal Distention
Abdominal Mass
Abdominal Mass in Children
Abdominal Mass in Elderly
Abdominal Pain in Children
Active Bowel Sounds
Anorexia Decreased appetite
Bowel/Stool Incontinence
Bowel/stool incontinence in Children
Constipation Children
Constipation in infants
Empty rectal ampulla
Episodic vomiting
Fecal Soiling in a Child
Foul stool
Hematochezia/Blood per Rectum
Increased abdominal girth/Potbelly
Large bowel symptoms/signs
Newborn Delayed Meconium Stool
Problems with defecation
Protruberant Abdomen
Vomiting
Vomiting in Children
Vomiting recurrent
Typical Clinical Presentation
Intestinal obstruction/neonate
Clinical Presentation & Variations
Presentation/Bowel obstruction Infant
Disease Progression
Course/Chronic disorder
Course/Chronic only
Demographics & Risk Factors
Established Disease Population
Patient/Down's syndrome
Population Group
Child
Infant
Population/Pediatrics population
Sex & Age Groups
Population/Child
Population/Child-Infant Only
Population/Children/all
Population/Fetal-newborn
Population/Infant
Population/Infant male
Population/Male
Laboratory Tests
Abnormal Lab Findings (Non Measured)
RET Oncogene Mutation
Abnormal Lab Findings - Decreased
Albumin, serum (Lab)
Diagnostic Test Results
Pathology
BX/Rectal biopsy/Abnormal
X-RAY
Xray/Abdominal film abnormalities/ABD/KUB
Xray/Colon dilated/severely air filled/ABD
X-RAY With contrast
BE/Colon distended not obstructed (Xray)
Associated Diseases & Rule outs
Rule Outs
Encopresis/childhood
Associated Disease & Complications
Anal Incontinence
Constipation
Encopresis/childhood
Hirschsprung disease
Hypoalbuminemia Hypoproteinemia
Intestinal/bowel obstruction
Intestinal/Bowel Obstruction in Children
Intestine, psuedo-obstruction
Large bowel obstruction
Obstipation
Toxic megacolon/dilatation
Vomiting Excess/Chronic
Disease Mechanism & Classification
Class
CLASS/Pediatric disorders (ex)
CLASS/Colon manifestation/disorder (ex)
CLASS/Intestinal/stomach/gut (category)
Pathophysiology
Pathophysiology/Gene locus 9q31
Pathophysiology/Gene locus Chromosome 9
Pathophysiology/Gene Locus Identified/OMIM database
Pathophysiology/Genomic indentifiers (polymorphism/snip/mutations)
Pathophysiology/Colon Aganglionic Distal Segment
Pathophysiology/Mechanical Bowel Obstruction
Process
PROCESS/Congenital/developmental (category)
PROCESS/Eponymic (category)
PROCESS/Hereditary/Genetic predisposition (ex)
PROCESS/Hereditofamilial (category)
PROCESS/Anomalies/Deformities/Malformations (EX)
Synonyms
Synonym
aganglionic megacolon, Aganglionosis, CONGEN MEGACOLON, Congenit aganglionic megacolon, Congenital aganglionic megacolon, Congenital Megacolon, Congenital megacolon (disorder), Disease Hirschsprung, Disease Hirschsprungs, Disease Hirschsprung's, HD Hirschsprung's disease, Hirschsprung, HIRSCHSPRUNG DIS, HIRSCHSPRUNG DISEASE, HIRSCHSPRUNG DISEASE 1, HIRSCHSPRUNGS DIS, Hirschsprungs disease, Hirschsprung's disease, Hirschsprung's disease (disorder), HSCR, HSCR1, macrocolon, Macrocolon (disorder), MEGACOLON AGANGLIONIC, MEGACOLON CONGEN, Megacolon congenital, MGC, pelvirectal achalasia, Synonym/Intestinal Neuronal Dysplasia
Definition

Congenital megacolon due to absence of myenteric ganglion cells in a distal segment of the large intestine.

This is a rare congenital condition affecting the lower gastrointestinal tract. It results in obstruction because the intestines lose its normal nervous tissue resulting in megacolon or a dilated section of colon. The symptoms differ depending upon the age of presentation. In a newborn period, there is failure to pass a meconium stool within 24-48 hours after birth, reluctance to eat, vomiting, and abdominal distension. During infancy the child has difficulty gaining weight , constipation, abdominal distension, episodes of diarrhea and vomiting. In older children, symptoms become chronic and include constipation, passage of ribbon-like, foul-smelling stools, abdominal distension and visible peristalsis. Usually there is evidence of poor nutrition and anemia. Hirschprung's is one of the manifestations of a clincal syndrome known as Intestinal Pseudo-Obstruction. This syndrome is divided into neuropathic, myopathic, and idiopathic types. The Neuropathic type can be further subdivided into Hirschsprung Disease and Intestinal Neuronal Dysplasia. [doctorsdoctor.com online 2008]

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External Links Related to Hirschsprung disease
Google
Wikipedia
Merck
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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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