Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Hennekam-Syndrom

Das Hennekam-Syndrom ist eine heterogene autosomal rezessive Erkrankung, die durch Lymphödem bei Lymphangioektasie und geistige Retardierung gekennzeichnet ist.

Gliederung

Hereditäres Lymphödem
Emberger-Syndrom
Hennekam-Syndrom
Hennekam-Lymphangiectasie-Lymphödem-Syndrom 1
CCBE1
Hennekam-Lymphangiectasie-Lymphödem-Syndrom 2
FAT4
Hereditäres Lymphödem Typ 1a
Hereditäres Lymphödem Typ 1c
Hereditäres Lymphödem Typ 1d
Hereditäres Lymphödem mit Distichiasis
Mikrocephalie-Lymphödem-Chorioretinopathie-Syndrom

Referenzen:

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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