Acromegaloid Changes, Cutis Verticis Gyrata and Corneal Leukoma

Overview

Type of disease: Rare conditions

Acromegaloid Changes, Cutis Verticis Gyrata and Corneal Leukoma, also known as Rosenthal-Kloepfer Syndrome, is a rare genetic condition. This condition results from a mutation or error in a person’s DNA or genes and can cause many deformities in patients including being abnormally tall, having large hands and soft skin. Other deformities can include unusually large chins and Cutis gyrata of scalp. Cutis gyrata means the scalp, or the layer of skin that covers your skull and lies underneath the hair on your head, has abnormally thickened. Along with having a thicker scalp, patients tend to develop visible ridges, creases, and folds in the scalp. Developing patches of cloudy white over surfaces of the eye can also occur within the first year of life, causing the patient to be blind. Although there is currently no cure for acromegaloid changes, cutis verticis gyrata and corneal leukoma, there are various resources to help manage the condition and treat birth defects, such as corrective eye surgery, which can allow the patient to use the non-cloudy parts of the eyes. Doctors seek help from various therapists and community services to provide support and care for families affected by acromegaloid changes, cutis verticis gyrata and corneal leukoma.

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