McCune-Albright syndrome is a rare, mosaic genetic condition. It is characterised by a range of endocrine, skin and skeletal issues.

Legius syndrome is a rare genetic condition characterised by changes in skin pigmentation, and caused by a pathogenic variant in one copy of the SPRED1 gene.

Gorlin syndrome, also known as naevoid basal cell carcinoma syndrome, is a rare genetic condition characterised by the development of jaw cysts, basal cell carcinomas, palmar pits and plantar pits.

McCune-Albright syndrome is a mosaic disorder caused by variants in the GNAS gene. It occurs sporadically: vertical transmission (that is, someone inheriting the condition from their parents) has never been reported. It is characterised by café-au-lait macules, endocrine dysfunction and polyostotic fibrous dysplasia.

Café-au-lait macules are flat pigmented patches that can be found anywhere on the body. They are typically light to dark brown in colour. While having one or two is generally common, multiple café-au-lait macules in children, especially when accompanied by other suggestive features, may indicate an underlying genetic condition.