Hennekam Syndrome

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Xu, C. Hennekam Syndrome. Encyclopedia. Available online: https://encyclopedia.pub/entry/4092 (accessed on 27 September 2026).

Xu C. Hennekam Syndrome. Encyclopedia. Available at: https://encyclopedia.pub/entry/4092. Accessed September 27, 2026.

Xu, Camila. "Hennekam Syndrome" Encyclopedia, https://encyclopedia.pub/entry/4092 (accessed September 27, 2026).

Xu, C. (2020, December 23). Hennekam Syndrome. In Encyclopedia. https://encyclopedia.pub/entry/4092

Xu, Camila. "Hennekam Syndrome." Encyclopedia. Web. 23 December, 2020.

Hennekam Syndrome

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This entry is adapted from the peer-reviewed paper https://medlineplus.gov/genetics/condition/hennekam-syndrome

Hennekam syndrome is an inherited disorder resulting from malformation of the lymphatic system, which is part of both the circulatory system and immune system. The lymphatic system consists of a network of vessels that transport lymph fluid and immune cells throughout the body.

genetic conditions

References

Al-Gazali LI, Hertecant J, Ahmed R, Khan NA, Padmanabhan R. Furtherdelineation of Hennekam syndrome. Clin Dysmorphol. 2003 Oct;12(4):227-32. Review.
Alders M, Al-Gazali L, Cordeiro I, Dallapiccola B, Garavelli L, Tuysuz B,Salehi F, Haagmans MA, Mook OR, Majoie CB, Mannens MM, Hennekam RC. Hennekamsyndrome can be caused by FAT4 mutations and be allelic to Van Maldergemsyndrome. Hum Genet. 2014 Sep;133(9):1161-7. doi: 10.1007/s00439-014-1456-y.
Alders M, Hogan BM, Gjini E, Salehi F, Al-Gazali L, Hennekam EA, Holmberg EE, Mannens MM, Mulder MF, Offerhaus GJ, Prescott TE, Schroor EJ, Verheij JB, WitteM, Zwijnenburg PJ, Vikkula M, Schulte-Merker S, Hennekam RC. Mutations in CCBE1cause generalized lymph vessel dysplasia in humans. Nat Genet. 2009Dec;41(12):1272-4. doi: 10.1038/ng.484.
Alders M, Mendola A, Adès L, Al Gazali L, Bellini C, Dallapiccola B, Edery P, Frank U, Hornshuh F, Huisman SA, Jagadeesh S, Kayserili H, Keng WT, Lev D, Prada CE, Sampson JR, Schmidtke J, Shashi V, van Bever Y, Van der Aa N, Verhagen JM,Verheij JB, Vikkula M, Hennekam RC. Evaluation of Clinical Manifestations inPatients with Severe Lymphedema with and without CCBE1 Mutations. Mol Syndromol. 2013 Mar;4(3):107-13. doi: 10.1159/000342486.
Kapoor S. Hennekam syndrome: a rare and often ignored cause of intestinallymphangiectasia. Endoscopy. 2014 Jun;46(6):542. doi: 10.1055/s-0034-1365291.
Ozyurt A, Sevinc E, Baykan A, Arslan D, Argun M, Pamukcu O, Uzum K. Variableclinical presentation in primary lymphoedema: report of two cases. ClinDysmorphol. 2014 Jul;23(3):83-7. doi: 10.1097/MCD.0000000000000036.
Van Balkom ID, Alders M, Allanson J, Bellini C, Frank U, De Jong G, Kolbe I,Lacombe D, Rockson S, Rowe P, Wijburg F, Hennekam RC.Lymphedema-lymphangiectasia-mental retardation (Hennekam) syndrome: a review. Am J Med Genet. 2002 Nov 1;112(4):412-21. Review.

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Subjects: Genetics & Heredity

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Update Date: 04 Apr 2021

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