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Diseases

Genetic and Rare Diseases Information Center (GARD)

Hennekam syndrome


Other Names for this Disease
  • Lymphangiectasies and lymphedema Hennekam type
  • Hennekam lymphangiectasia lymphedema syndrome
  • Intestinal lymphagiectasia lymphedema intellectual deficit syndrome
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Overview

Hennekam syndrome is a rare condition that affects the lymphatic system. Signs and symptoms of the condition are generally noticeable at birth and vary significantly from person to person, even within the same family. Affected people generally experience lymphangiectasia (lymphatic vessels that are abnormally expanded), lymphedema, and distinctive facial features (i.e. a flattened appearance to the middle of the face, puffy eyelids, widely spaced eyes, small ears, and a small mouth). Other common features include intellectual disability, growth delay, respiratory problems, camptodactyly (permanently bent fingers and toes) and cutaneous syndactyly (fusion of the skin between the fingers and toes). Hennekam syndrome is caused by changes (mutations) in the CCBE1 or FAT4 genes and is inherited in an autosomal recessive manner. Treatment is based on the signs and symptoms present in each person.[1][2][3]
Last updated: 2/17/2016

References

  1. Hennekam syndrome. Genetics Home Reference. July 2014; http://ghr.nlm.nih.gov/condition/hennekam-syndrome.
  2. HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 1. OMIM. September 2014; http://www.omim.org/entry/235510.
  3. Frosk P1,2, Chodirker B3,4, Simard L5, El-Matary W6, Hanlon-Dearman A7, Schwartzentruber J8, Majewski J9; FORGE Canada Consortium, Rockman-Greenberg C. A novel CCBE1 mutation leading to a mild form of hennekam syndrome: case report and review of the literature. BMC Med Genet. April 2015; 16:28.
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Basic Information

In Depth Information

  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Hennekam syndrome. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • Lymphangiectasies and lymphedema Hennekam type
  • Hennekam lymphangiectasia lymphedema syndrome
  • Intestinal lymphagiectasia lymphedema intellectual deficit syndrome
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.