Anophthalmia Cleft Lip Palate Hypothalamic Disorder
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.