Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Hennekam lymphangiectasia-lymphedema syndrome 2

Hennekam syndrome 2 is an autosomal recessive disorder characterized by lymphedema with lymphangiectasia and intellectual disability. It is caused by mutations of the FAT4 gene.

Systematic

Hennekam syndrome
Hennekam lymphangiectasia-lymphedema syndrome 1
Hennekam lymphangiectasia-lymphedema syndrome 2
FAT4
Hennekam lymphangiectasia-lymphedema syndrome 3

References:

1.

Hennekam RC et al. (1989) Autosomal recessive intestinal lymphangiectasia and lymphedema, with facial anomalies and mental retardation.

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2.

Al-Gazali LI et al. (2003) Further delineation of Hennekam syndrome.

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3.

Alders M et al. (2014) Hennekam syndrome can be caused by FAT4 mutations and be allelic to Van Maldergem syndrome.

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4.

Orphanet article

Orphanet ID 79383 [^]
5.

OMIM.ORG article

Omim 616006 [^]
Update: April 29, 2019