Hennekam syndrome

Autosomal recessive - en

Hennekam syndrome is a rare genetic disorder characterized by a combination of lymphatic dysplasia, intestinal lymphangiectasia, distinctive facial features, and varying degrees of intellectual disability. The syndrome is named after the Dutch pediatrician R.C. Hennekam, who first described the condition in 1989.

Clinical Features

Individuals with Hennekam syndrome typically present with a range of clinical features, including:

• Lymphedema: Swelling due to lymphatic system malformations, often affecting the limbs and face.
• Intestinal lymphangiectasia: Abnormal dilation of the lymph vessels in the intestines, leading to protein-losing enteropathy.
• Distinctive facial features: These may include a flat face, broad nasal bridge, hypertelorism (wide-set eyes), and a small mouth.
• Intellectual disability: Varying degrees of cognitive impairment are common.
• Other possible features: These may include congenital heart defects, genitourinary anomalies, and skeletal abnormalities.

Genetics

Hennekam syndrome is primarily inherited in an autosomal recessive manner. Mutations in the CCBE1 gene have been identified as a cause of the syndrome. The CCBE1 gene is crucial for the development and function of the lymphatic system.

Diagnosis

The diagnosis of Hennekam syndrome is based on clinical evaluation, identification of characteristic features, and genetic testing to confirm mutations in the CCBE1 gene. Prenatal diagnosis may be possible if the genetic mutation is known in the family.

Management

There is no cure for Hennekam syndrome, and treatment is primarily supportive and symptomatic. Management strategies may include:

• Compression therapy and physical therapy for lymphedema.
• Nutritional support and dietary modifications for intestinal lymphangiectasia.
• Special education and developmental support for intellectual disability.
• Regular monitoring and management of associated anomalies and complications.

Epidemiology

Hennekam syndrome is an extremely rare condition, with only a few hundred cases reported worldwide. The exact prevalence is unknown.

See Also

• Lymphatic system
• Genetic disorders
• Lymphedema
• Intellectual disability
• Congenital heart defects

External Links

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