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 syndrome | ||||
Hennekam lymphangiectasia-lymphedema syndrome 1 | ||||
Hennekam lymphangiectasia-lymphedema syndrome 2 | ||||
FAT4 | ||||
Hennekam lymphangiectasia-lymphedema syndrome 3 | ||||
1. |
Hennekam RC et al. (1989) Autosomal recessive intestinal lymphangiectasia and lymphedema, with facial anomalies and mental retardation. |
2. |
Al-Gazali LI et al. (2003) Further delineation of Hennekam syndrome. |
3. |
Alders M et al. (2014) Hennekam syndrome can be caused by FAT4 mutations and be allelic to Van Maldergem syndrome. |
4. |
Orphanet article Orphanet ID 79383 |
5. |
OMIM.ORG article Omim 616006 |