Hennekam lymphangiectasia lymphedema syndrome [Supplementary Concept]
A hereditary autosomal recessive disorder characterized by generalized lymphatic dysplasia affecting various organs, including the INTESTINAL TRACT; PERICARDIUM; and limbs. Additional features may include facial dysmorphism, cognitive impairment, and CRYPTORCHIDISM in affected males. Mutations in the CCBE1 gene have been identified. OMIM: 235510
Date introduced: August 25, 2010
MeSH Unique ID: C537255
Heading Mapped to:
Entry Terms:
- Hennekam Lymphangiectasia-Lymphedema Syndrome
- Lymphangiectasies and lymphedema Hennekam type
- Lymphatic Dysplasia, Generalized
Previous Indexing: