Anophthalmia Megalocornea Cardiopathy Skeletal Anomalies

Overview

Type of disease: Rare conditions

Anophthalmia Megalocornea Cardiopathy Skeletal Anomalies, also known as Cassia Stocco dos Santos syndrome, is a rare combination of birth defects, or a syndrome. This syndrome is characterized by the absence of one or both eyes, enlarged corneas, heart defects, and skeletal abnormalities, and often includes various other defects. There are only a few reports of this condition in the medical literature. It is an autosomal recessive condition, meaning that it is only sometimes passed from parents to their children. A genetic counselor can give more incite into the genetic risks of this condition. Treatment varies on a case-by-case basis and depends on the patient’s specific birth defects.

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