HD

Question 1

Associated anomalies with Hirschsprung’s Disease

Answer 1

•

Down’s syndrome

(~5%)

• Neurocristopathies as:
• Waardenburg–Shah syndrome; white forelock, bicolored iris, deafness
• Hypoventilation syndrome (Ondine’s curse) – association with HD termed Haddad syndrome
• Mental retardation syndromes
• Smith-Lemli-Optiz syndrome; mental retardation, polydactly, defect in cholesterol metabolism
• Mowat-Wilson syndrome; mental retardation, characteristic facies

•

Development colon anomalies

• Colon atresia, anorectal atresia
• Miscellaneous
• Kaufman-McKusick syndrome; hydrometroc

Question 2

Etiology of Hirschsprung disease

Answer 2

Failure of migration
Environmental (NCAM
Immunological attack