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Hennekam syndrome

Hennekam lymphangiectasia-lymphedema syndrome
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Review Articles from PubMed

Review articles summarize what is currently known about a disease. They discuss research previously published by others. The terms "Hennekam syndrome" returned 1 free, full-text review articles. First 1 results:
A novel CCBE1 mutation leading to a mild form of hennekam syndrome: case report and review of the literature.
Last Updated: Nov 13, 2018

Mutations in CCBE1 have been found to be responsible for a subset of families with autosomal recessive Hennekam syndrome. Hennekam syndrome is defined as the combination of generalized lymphatic dysplasia (ie. lymphedema and lymphangiectasia), variable intellectual disability and ...

[Hennekam syndrome: a case report and review of literature].
Last Updated: Jul 16, 2013

To study the clinical characteristics of Hennekam syndrome.

Further delineation of Hennekam syndrome.
Last Updated: Nov 17, 2011

We report four children from four inbred Arab families with varying manifestations of Hennekam syndrome and additional features that have not been previously reported. These include abnormalities of the middle ear, anomalous pulmonary venous drainage, interrupted inferior vena cava, ...

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1 Free Review Articles 4 Review Articles

Editorials from PubMed

Editorial articles describe the outcome of a single study. They are the published results of original research. The terms "Hennekam syndrome" returned 0 free, full-text editorial articles. First 0 results:
No publications were found for this category.
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Research Articles from PubMed

Research articles describe the outcome of a single study. They are the published results of original research. The terms "Hennekam syndrome" returned 5 free, full-text research articles. First few results:
Van Maldergem syndrome and Hennekam syndrome: Further delineation of allelic phenotypes.
Last Updated: May 20, 2019

Biallelic variants in FAT4 are associated with the two disorders, Van Maldergem syndrome (VMS) (nā€‰=ā€‰11) and Hennekam syndrome (HS) (n= 40). Both conditions are characterized by a typical facial gestalt and mild to moderate intellectual disability, but differ in the occurrence ...

Loss of ADAMTS3 activity causes Hennekam lymphangiectasia-lymphedema syndrome 3.
Last Updated: Jul 08, 2018

Primary lymphedema is due to developmental and/or functional defects in the lymphatic system. It may affect any part of the body, with predominance for the lower extremities. Twenty-seven genes have already been linked to primary lymphedema, either isolated, or as part of a syndrome. ...

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5 Free Research Articles 22 Research Articles