Medical Definition of EEC Syndrome

Reviewed on 12/15/2021

EEC syndrome is an acronym for ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome, a rare genetic, congenital disease characterized by birth defects including missing or irregular fingers and/or toes (ectrodactyly or split hand/foot malformation); abnormalities of the hair and glands; cleft lip and cleft palate, distinctive facial features; and abnormalities of the eyes and urinary tract. The severity of these defects varies from mild to severe. Over 90% of people with the conditions have mutations in a gene known as TP63 that is critical in the development of skin, hair, teeth, and nails. The syndrome is typically inherited in an autosomal dominant manner, meaning that only one parent must be affected to pass on the condition.

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References
Jameson, J. Larry, et al. Harrison's Principles of Internal Medicine, 20th Ed. New York: McGraw-Hill Education, 2018.