Anophthalmia Cleft Lip Palate Hypothalamic Disorder

Overview

Type of disease: Rare conditions

Anophthalmia Cleft Lip Palate Hypothalamic Disorder is a rare combination of birth defects, or a syndrome. This syndrome is characterized by the absence of one or both eyes, cleft lip and palate (facial deformations), and increased levels of thyroid-stimulating hormone. This syndrome has been seen in one child who also was also affected by seizures, abnormal levels of hormones produced by the pituitary gland, and diabetes insipidus, a condition in which the kidneys cannot absorb water. Treatment varies on a case-by-case basis, and depends on the patient’s specific birth defects.

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