Signs and symptomsPotential diagnosis
Abdominal distensionHirschsprung disease, impaction, neuroenteric condition (e.g., pseudo-obstruction)
Abnormal neurologic examination findings (tight anal sphincter, absent anal wink, absent cremasteric reflex, decreased lower extremity reflexes or tone)Spinal cord abnormality, anorectal malformation, Hirschsprung disease
Delayed passage of meconium (> 48 hours after birth)Hirschsprung disease, cystic fibrosis, congenital malformation of anorectum or spine
Extraintestinal symptoms (bilious vomiting, fever, ill appearance)Hirschsprung disease, neuroenteric condition
Failure to thriveHirschsprung disease, cystic fibrosis, metabolic condition, malabsorption
Family history of Hirschsprung diseaseHirschsprung disease
Gushing of stool with rectal examinationHirschsprung disease
Intermittent diarrhea and explosive stoolsHirschsprung disease
Midline pigmentary abnormalities of lower spineSpinal cord abnormality
Occult blood in stoolHirschsprung disease, food allergy, necrotizing enterocolitis
Onset before 1 month of ageHirschsprung disease, cystic fibrosis, congenital malformation of anorectum or spine, metabolic or endocrine conditions
Perianal fistula, abnormal position of anusSpinal cord abnormality
Pilonidal dimple covered by tuft of hairSpinal cord abnormality
Stool caliberOrganic causes such as Hirschsprung disease (constriction from aganglionic segments in Hirschsprung disease results in narrow stools)