|Synonyms||ennekam lymphangiectasia–lymphedema syndrome, intestinal lymphagiectasia–lymphedema–mental retardation syndrome|
|Classification and external resources|
Hennekam syndrome also known as intestinal lymphagiectasia–lymphedema–mental retardation syndrome, is an autosomal recessive disorder consisting of intestinal lymphangiectasia, facial anomalies, peripheral lymphedema, and mild to moderate levels of growth and intellectual disability.
It is also known as "lymphedema-lymphangiectasia-mental retardation syndrome".
In a subset of patients it is associated with CCBE1 according research published by its namesake, Raoul Hennekam. Other causal mutations were found in the FAT4 gene. Previously, mutations in the FAT4 gene had been only associated with van Maldergem syndrome. The molecular mechanism of the lymphedema phenotype in CCBE1-associated cases was identified as a diminished ability of the mutated CCBE1 to accelerate and focus the activation of the primary lymphangiogenic growth factor VEGF-C.
- Tadmouri GO. Hennekam lymphangiectasia–lymphedema syndrome. In: Catalogue for Transmission Genetics in Arabs [PDF]. Centre for Arab Genomic Studies; 2005.
- Erkan T, Kutlu T, Çullu F et al. [Hennekam syndrome]. Arch Pediatr. 1998;5(12):1344–6. French. doi:10.1016/S0929-693X(99)80054-2. PMID 9885742.
- Van Balkom ID, Alders M, Allanson J, et al. (November 2002). "Lymphedema-lymphangiectasia-mental retardation (Hennekam) syndrome: a review". Am. J. Med. Genet. 112 (4): 412–21. PMID 12376947. doi:10.1002/ajmg.10707.
- Alders M, Hogan BM, Gjini E, et al. (December 2009). "Mutations in CCBE1 cause generalized lymph vessel dysplasia in humans". Nat. Genet. 41 (12): 1272–4. PMID 19935664. doi:10.1038/ng.484.
- Alders M, Al-Gazali L, Cordeiro I, et al. (June 2014). "Hennekam syndrome can be caused by FAT4 mutations and be allelic to Van Maldergem syndrome". Hum. Genet. 133 (9): 1161–7. PMID 24913602. doi:10.1007/s00439-014-1456-y.
- Jeltsch M, Jha SK, Tvorogov D, et al. (February 2014). "CCBE1 enhances lymphangiogenesis via A disintegrin a". Circulation. 129 (19): 1962–71. PMID 24552833. doi:10.1161/CIRCULATIONAHA.113.002779.
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