Q80-Q89: Other congenital malformations

Q85: Phakomatoses, not elsewhere classified

Phakomatoses, also known as neurocutaneous syndromes, embody a group of conditions that result from abnormal development of the cells in the skin and nervous system during early pregnancy. These conditions are typically inherited or occur due to spontaneous genetic mutations. While symptoms vary, common signs can include unusual skin pigmentation or growths, issues with the eyes, and nervous system problems which often lead to seizures, learning disabilities, and behavioral issues. Depending on the specific condition within this group, other body systems like the heart, kidneys, or bones can also be affected. The progression of these conditions can differ greatly, from mild cases that may not significantly affect lifespan to more severe forms that can lead to serious complications.