Hennekam syndrome 3 is an autosomal recessive disorder characterized by lymphedema with lymphangiectasia, facial dysmorphism and protein-losing enteropathy. It is caused by mutations of the ADAMTS3 gene.
Hennekam syndrome | ||||
Hennekam lymphangiectasia-lymphedema syndrome 1 | ||||
Hennekam lymphangiectasia-lymphedema syndrome 2 | ||||
Hennekam lymphangiectasia-lymphedema syndrome 3 | ||||
ADAMTS3 | ||||
1. |
Brouillard P et al. (2017) Loss of ADAMTS3 activity causes Hennekam lymphangiectasia-lymphedema syndrome 3. |
2. |
OMIM.ORG article Omim 618154 |