Evaluation of Clinical Manifestations in Patients with Severe Lymphedema with and without CCBE1 Mutations

Abstract excerpt

The lymphedema-lymphangiectasia-intellectual disability (Hennekam) syndrome (HS) is characterised by a widespread congenital lymph vessel dysplasia manifesting as congenital lymphedema of the limbs and intestinal lymphangiectasia, accompanied by unusual facial morphology, variable intellectual disabilities and infrequently malformations. The syndrome is heterogeneous as mutations in the gene CCBE1 have been found...

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Lymphatic System and Diseases
• Share to Sympathectomy and Hyperhidrosis Treatments
• Share to Vascular Malformations and Hemangiomas