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Summary Summary. Abetalipoproteinemia is a condition characterized by the inability to fully absorb dietary fats, cholesterol and fat-soluble vitamins. Signs and symptoms appear in the first few months of life and can include failure to thrive; diarrhea; acanthocytosis; and stool abnormalities.
Anophthalmia Definition. Anophthalmia, also referred to as Anophthalmos, is a congenital defect that leads to absence of the eyes in a newborn. It is a very rare condition characterized by the lack of the ocular tissue and the globe of the eye. This defect can occur both unilaterally (affecting one eye) and bilaterally (involving both eyes).