Syndromes associated with café-au-lait spots [85 genes]

Café au lait spots are well-defined hyperpigmented lesions of very variable size. They appear frequently in the healthy population, presenting one to three café au lait spots in up to 10% of children. However, the presence of café-au-lait spots with particular morphological characteristics or in large numbers is associated with different syndromic diseases.

This service has all the genes related to entities with café au lait spots, frequently or occasionally, as part of their phenotype. Therefore, in the presence of café au lait spots and suspicion of a genetic origin, but without previously having reached a clinical diagnosis, this service is indicated.

Service indicated in the presence of café-au-lait spots that, due to their morphological characteristics or high number, lead to the suspicion of an underlying genetic disease, but without having been able to reach a specific diagnosis based on the clinical examination.