Cleft Lip Palate Ectrodactyly

Overview

Type of disease: Rare conditions

Cleft lip and/or palate ectrodactyly, also known as ectrodactyly–ectodermal dysplasia–cleft syndrome (EEC), is a rare combination of birth defects, or a syndrome. This syndrome is characterized by: cleft lip and/or palate; the absence of one or more central fingers or toes; ear abnormalities; abnormal nails, skin, hair, and teeth; and the inability to sweat. Patients are not intellectually impaired. It is typically diagnosed by physical examination and can be confirmed through genetic testing. Genetic counseling should be sought out, as affected people have a 50% chance of passing the disorder to children. Surgery improves the appearance of the physical abnormalities. Also, hot temperatures should be avoided as the sweat glands do not work properly in most cases. Children with the condition are expected to live the average length of life.

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