Pathologic features of the CHARGE association: support for involvement of the neural crest.
Defects associated with choanal atresia include coloboma, cardiac anomalies (usually involving the conotruncal region), physical or mental retardation, genital hypoplasia, and abnormalities of the ear. This constellation of defects is known as the "CHARGE" association and may be accompanied by other anomalies. Many of these defects seem to result from abnormalities in the development, migration, or interaction of cells of the cephalic neural crest. The range of variation in neural crest development is substantial, as indicated by the rather large number of malformation complexes and syndromes that are related phenotypically to the CHARGE association. The increasingly unwieldy nature of this collection of malformations demonstrates the need for an expanded classification of the "neurocrestopathies."
D000015:Abnormalities, Multiple / Q000196:embryology* / Q000473:pathology; D003103:Coloboma / Q000196:embryology; D004423:Ear / Q000002:abnormalities; D005260:Female; D005835:Genitalia / Q000002:abnormalities; D006330:Heart Defects, Congenital / Q000196:embryology; D006801:Humans; D008607:Intellectual Disability; D008297:Male; D009296:Nasal Cavity / Q000002:abnormalities; D009432:Neural Crest / Q000502:physiology*