Hittner Hirsch Kreh syndrome

Colobomatous Microphthalmia Heart Disease Hearing


Type of disease: Rare conditions

Colobomatous microphthalmia heart disease hearing, otherwise known as Hittner-Hirsch-Kreh syndrome is a syndrome characterized by colobomatous microphthalmia, heart disease, hearing loss and intellectual deficit. Colobomatous microphthalmia means that there is a coloboma, or missing piece of tissue, in the structures that form the eye and that the person has an abnormally small eye. The syndrome is hereditary. Treatment is decided on a case-by-case basis depending on the specific needs of the patient and birth defects present.

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