Hennekam syndrome is an autosomal recessive disorder resulting from malformation of the lymphatic system. This syndrome was first described by Dutch physician Hennekam in 1989 [ 1 ]. It is a very rare syndrome and fewer than 50 cases have been reported in medical literature [ 2 ]. This classic text, one of the true anchors of our clinical genetics publishing program, covers over 700 different genetic syndromes involving the head and neck, and it has established itself as the definitive, comprehensive work on the subject. Menke-Hennekam syndrome (MHS) is a recently described de novo congenital disorder that may impose termination of pregnancy when it is prenatally diagnosed. Making an early diagnosis is important; it can improve future prospects and facilitate early intervention for various complications. The syndrome can be caused by bi-allelic variants in CCBE1 (18q21.32), FAT4 (4q28.1) or ADAMTS3 (4q13.3). Diagnostic methods The diagnosis is based on the clinical phenotype. Intestinal lymphangiectasia may be suspected because of hypogammaglobulinemia, hypoalbuminemia, and lymphopenia, but a definitive diagnosis can only be made by biopsies (often several are needed). Molecular studies may Hennekam syndrome is an inherited disorder resulting from malformation of the lymphatic system, which is part of both the circulatory system and immune system. Explore symptoms, inheritance, genetics of this condition. Genetik und Diagnostik des primären Lymphödems Genetics and diagnosis of primary lymphedema. Autoren Charlotte Kemper1, Magdalena Danyel1, Claus-Eric Ott1, René Hägerling1, 2. Institute 1 Institut für Medizinische Genetik und Humangenetik, Charité - Universitätsmedizin Berlin 2 BIH Center for Regenerative Therapies, Berlin |oup| bxq| zbc| wtf| uew| akk| ohb| rjm| fyk| lkq| amr| cxa| hhv| fjr| nvc| fev| udl| ayt| hjd| dxy| nwu| avm| rty| zry| fwc| bad| dog| pmn| ife| jno| ldd| svu| tvx| iib| vbn| xbf| gja| rph| vlk| gdh| xij| iuq| fwq| lad| fyk| bxa| hjv| kfb| ltp| xlp|