NORD gratefully acknowledges Ruth M. Liberfarb, MD, PhD, Massachusetts General Hospital for Children, for assistance in the preparation of this report.
Synonyms of Marshall Syndrome
deafness-myopia-cataract-saddle nose, Marshall type
Marshall syndrome is a rare autosomal dominant genetic disorder caused by mutations in the COL11A1 gene. Major symptoms may include a distinctive face with a flattened nasal bridge and nostrils that are tilted upward, widely spaced eyes, nearsightedness, cataracts and hearing loss.
NORD Member Organizations
1992, 1999, 2007, 2009, 2012