Capillary Malformation of the Lower Lip, Lymphatic Malformation of the Face/Neck, and Partial or Generalized Overgrowth Syndrome (CLAPO)

CLAPO syndrome is the acronym for a rare vascular malformation composed of capillary malformations of the lower lip, lymphatic malformation of the face/neck, and partial or generalized overgrowth. The common clinical manifestation of this disorder is a capillary malformation of the lower lip, which is present at birth, or shortly thereafter. Other clinical findings may include:

• Lymphatic malformation
• Overgrowth syndrome
• Lymphedema

CLAPO is likely caused by a mutation of the PIK3CA gene. This is not an inherited condition.

Diagnosis:

You/your child will meet with the Vascular Anomalies Center team during the initial clinic visit for a comprehensive review of the patient’s medical history, any imaging studies and/or laboratory tests that have been performed, and a complete physical examination. The medical specialists will then confer and diagnose the condition and propose a treatment plan. Diagnosis is primarily based on clinical features. Additional diagnostic studies may include:

• Plain radiographs
• MRI
• Genetic testing

Treatment:

There is no cure for CLAPO syndrome. Treatment is focused on individual symptoms. Individuals with this condition may need to be followed closely by experts from the following specialties:

• Dermatology
• Orthopedics
• Interventional radiology

Those with lymphedema may benefit from using compressive garments and decongestive therapy.