WebThis website you visit will use cookies in order to improve your user experience by enabling that website to ‘remember’ you. Should you continue navigating we will consider that you accept their use. WebLearn about diagnosis and specialist referrals for Hennekam syndrome. Thank you for visiting the GARD website. Learn more about site improvements that will be live by Spring 2024. ... Hennekam lymphangiectasia lymphedema syndrome; Intestinal lymphagiectasia lymphedema intellectual deficit syndrome; ...
Lymphangiectasia - an overview ScienceDirect Topics
WebOMIM®: 57 Hennekam lymphangiectasia-lymphedema syndrome is an autosomal recessive disorder characterized by generalized lymphatic dysplasia affecting various organs, including the intestinal tract, pericardium, and limbs. Additional features of the disorder include facial dysmorphism and cognitive impairment (summary by Alders et al., … WebJun 26, 2024 · Hennekam lymphangiectasia-lymphedema syndrome (HKLLS) is a rare autosomal recessive disorder characterized by lymphangiectasia, lymphedema, facial anomalies, and mental retardation [ 1 ]. The lymphangiectasia primarily affects the intestines, and also the pleura, pericardium, kidney, and thyroid gland. breweriana.com
RCPA - Gene Details
WebHennekam Lymphangiectasia-Lymphedema Syndrome 2 (Alders et al. 2014).0004 Van Maldergem syndrome 2 [FAT4, GLU3161TER] (rs370088878) (RCV000074491) (Cappello et al. 2013).0005 Van Maldergem syndrome 2 [FAT4, 2-BP DEL, NT14512] (rs398122956) (RCV000074492) (Cappello et al. 2013) WebOther Names: Hennekam lymphangiectasia lymphedema syndrome; Intestinal lymphagiectasia lymphedema intellectual deficit syndrome; Lymphangiectasies and lymphedema Hennekam typeHennekam lymphangiectasia lymphedema syndrome; Intestinal lymphagiectasia lymphedema intellectual deficit syndrome; … Web[en] Hennekam lymphangiectasia–lymphedema- syndrome (HKLLS), a rare congenital disorder caused by abnormal genesis of lymphatic vessels associated with mental retardation, intestinal lymphangiectasia and lymphedema. Establishing the diagnosis of lymphatic malformation is a crucial step in diagnosis of HKLLS. Lymphoscintigraphy is a … breweriana forum