CLAPO syndrome

CLAPO syndrome is a newly described condition defined by a unique set of features. The condition is characterized by capillary malformation of the lower lip, lymphatic malformation of the face and neck, asymmetry of the face and limbs, and partial or generalized overgrowth. These features together are used to define the syndrome and help in identifying the condition in people who have it.

People with CLAPO syndrome may show capillary malformation on the lower lip, lymphatic malformations on the face and neck, uneven growth of the face and limbs, and sometimes overall overgrowth. These symptoms are key to recognizing the features of the syndrome.

Research has identified a link between CLAPO syndrome and changes in the PIK3CA gene. These genetic changes are thought to be somatic, meaning they occur after conception. This information suggests that genetic alterations play a role in the development of the condition.

Information about treatment options is currently limited for this condition.

Information about prognosis is currently limited for this condition.

Information about research is currently limited for this condition. As a newly described syndrome, further studies are expected to improve understanding of its causes and management.