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.
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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. ![]() |
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Orphanet article Orphanet ID 79383![]() |
5. |
OMIM.ORG article Omim 616006![]() |