Hennekam syndrome

Hennekam syndrome, also known as Hennekam lymphangiectasia–lymphedema syndrome, is a rare genetic disorder characterized by intestinal lymphangiectasia, lymphedema, and distinctive facial features. The condition primarily affects the lymphatic system, leading to abnormal development and function of lymphatic vessels throughout the body. Intestinal lymphangiectasia causes protein-losing enteropathy, which can result in malabsorption, diarrhea, and failure to thrive. Lymphedema, particularly of the limbs and face, is a hallmark feature and may be present at birth or develop during infancy. Characteristic facial features include a flat face, flat and broad nasal bridge, hypertelorism (widely spaced eyes), and small ears. Additional features may include intellectual disability of variable severity, seizures, growth retardation, and skeletal anomalies such as syndactyly or camptodactyly. Some patients may also present with renal anomalies, glaucoma, gingival hypertrophy, and hearing loss. The severity of the condition varies considerably among affected individuals, even within the same family. Hennekam syndrome is caused by mutations in several genes involved in lymphatic development, including CCBE1 (type 1), FAT4 (type 2), and ADAMTS3 (type 3). Treatment is symptomatic and supportive. Management of intestinal lymphangiectasia typically involves a high-protein, low-fat diet supplemented with medium-chain triglycerides to reduce lymphatic fluid loss. Lymphedema may be managed with compression therapy and physical therapy. Surgical interventions may be considered for specific complications. A multidisciplinary approach involving gastroenterologists, geneticists, and other specialists is essential for optimal care.

Common questions about Hennekam syndrome