Hennekam lymphangiectasia-lymphedema syndrome 2
Hennekam syndrome 2 is an autosomal recessive disorder characterized by lymphedema with lymphangiectasia and intellectual disability. It is caused by mutations of the FAT4 gene.
|Hennekam lymphangiectasia-lymphedema syndrome 1|
|Hennekam lymphangiectasia-lymphedema syndrome 2|
Hennekam RC et. al. (1989) Autosomal recessive intestinal lymphangiectasia and lymphedema, with facial anomalies and mental retardation.[^]
Al-Gazali LI et. al. (2003) Further delineation of Hennekam syndrome.[^]
Alders M et. al. (2014) Hennekam syndrome can be caused by FAT4 mutations and be allelic to Van Maldergem syndrome.[^]