CFC syndrome in Iceland – Research Fund

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CFC syndrome is a rare genetic condition that typically affects the heart (cardio-), facial features (facio-) and skin (cutaneous). There are around 350 individuals worldwide with confirmed diagnosis. Individuals with CFC syndrome have certain features such as relatively large head size, down-slanting eyes, sparse eyebrows, curly hair, areas of thickened or scaly skin, and short stature. They have some degree of learning difficulty and developmental delay. The aim is to develop a cure for the Cardio-Facio-Cutaneous syndrome. Breki 15 years and Eydís Diljá 6 years old are the only two Icelanders diagnosed with the CFC syndrome. See &

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