Hennekam lymphangiectasia-lymphedema syndrome

Definition:

Hennekam lymphangiectasia-lymphedema syndrome (HKLLS) is characterized by congenital lymphedema, lymphangiectasia, unusual facial morphology, and variable intellectual disabilities. Mutations in CCBE1, an extracellular matrix protein essential for the development of the lymphatic vasculature, have been found responsible for the syndrome. As a second cause for HKLLS, the mutations in FAT4 have been described.

References:

[1]. Mariëlle Alders, et al. Hennekam syndrome can be caused by FAT4 mutations and be allelic to Van Maldergem syndrome. Hum Genet. 2014 Sep;133(9):1161-7. [Content Brief]

[2]. Marielle Alders, et al. Mutations in CCBE1 cause generalized lymph vessel dysplasia in humans. Nat Genet. 2009 Dec;41(12):1272-4. [Content Brief]

[3]. Pascal Brouillard, et al. Loss of ADAMTS3 activity causes Hennekam lymphangiectasia-lymphedema syndrome 3. Hum Mol Genet. 2017 Nov 1;26(21):4095-4104. [Content Brief]

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