Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Hennekam syndrome

Hennekam syndrome is a heterogeneous autosomal recessive disorder which is characterized by lymphangiectasia with lymphedema and intellectual disability.

Systematic

Hereditary lymphedema
Emberger syndrome
Hennekam syndrome
Hennekam lymphangiectasia-lymphedema syndrome 1
CCBE1
Hennekam lymphangiectasia-lymphedema syndrome 2
FAT4
Hennekam lymphangiectasia-lymphedema syndrome 3
ADAMTS3
Hereditary lymphedema type 1a
Hereditary lymphedema type 1c
Hereditary lymphedema type 1d
Hereditary lymphedema with distichiasis
Microcephaly-lymphedema-chorioretinopathy syndrome

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.

Connell F et al. (2010) Linkage and sequence analysis indicate that CCBE1 is mutated in recessively inherited generalised lymphatic dysplasia.

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5.

Alders M et al. (2009) Mutations in CCBE1 cause generalized lymph vessel dysplasia in humans.

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6.

Yasunaga M et al. (1993) Protein-losing gastroenteropathy with facial anomaly and growth retardation: a mild case of Hennekam syndrome.

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7.

Scarcella A et al. (2000) Early death in two sisters with Hennekam syndrome.

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8.

Forzano F et al. (2002) Severe lymphedema, intestinal lymphangiectasia, seizures and mild mental retardation: further case of Hennekam syndrome with a severe phenotype.

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9.

Van Balkom ID et al. (2002) Lymphedema-lymphangiectasia-mental retardation (Hennekam) syndrome: a review.

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10.

Bellini C et al. (2003) Hennekam syndrome presenting as nonimmune hydrops fetalis, congenital chylothorax, and congenital pulmonary lymphangiectasia.

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11.

Orphanet article

Orphanet ID 2136 [^]
12.

Wikipedia article

Wikipedia EN (Hennekam_syndrome) [^]
Update: April 29, 2019