Hennekam syndrome
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Mugilan Poongkunran M.B.B.S [2]
Overview
Hennekam syndrome also known as Hennekam lymphangiectasia–lymphedema syndrome and intestinal lymphagiectasia–lymphedema–mental retardation syndrome[1] is an autosomal recessive disorder consisting of intestinal lymphangiectasia, facial anomalies, peripheral lymphedema, and mild to moderate levels of growth and mental retardation.[1][2]
It is also known as “lymphedema-lymphangiectasia-mental retardation syndrome”.[3]
It may be associated with CCBE1.[4]
References
- ↑ 1.0 1.1 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. (2002). “Lymphedema-lymphangiectasia-mental retardation (Hennekam) syndrome: a review”. Am. J. Med. Genet. 112 (4): 412–21. doi:10.1002/ajmg.10707. PMID 12376947. Unknown parameter
|month=ignored (help) - ↑ Alders M, Hogan BM, Gjini E; et al. (2009). “Mutations in CCBE1 cause generalized lymph vessel dysplasia in humans”. Nat. Genet. 41 (12): 1272–4. doi:10.1038/ng.484. PMID 19935664. Unknown parameter
|month=ignored (help)
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