Lymphatic malformation 6 syndrome

Lymphatic Malformation 6 Syndrome (LM6), also known as Hennekam syndrome, is a rare genetic disorder characterized by lymphangiectasia, which is the dilation of the lymphatic vessels, leading to lymphatic malformations. This condition is part of a broader category of lymphatic diseases and is significant due to its impact on various body systems. LM6 is caused by mutations in the CCBE1 gene, which plays a crucial role in the development and functioning of the lymphatic system.

Symptoms and Diagnosis

The primary symptoms of Lymphatic Malformation 6 Syndrome include lymphedema (swelling due to lymph fluid accumulation), intestinal lymphangiectasia (leading to protein-losing enteropathy), and facial anomalies such as a flat nasal bridge, small ears, and a long face. Intellectual disability or developmental delays may also be present in affected individuals. Diagnosis is typically based on clinical evaluation and the identification of characteristic symptoms, supported by genetic testing to confirm mutations in the CCBE1 gene.

Genetics

Lymphatic Malformation 6 Syndrome is inherited in an autosomal recessive manner, meaning that an individual must inherit two copies of the mutated gene, one from each parent, to be affected by the disorder. Parents of an individual with LM6 are considered carriers and have a 25% chance with each pregnancy of having a child affected by the syndrome.

Treatment

There is no cure for Lymphatic Malformation 6 Syndrome, and treatment is symptomatic and supportive. Management may include measures to control lymphedema, dietary modifications to address protein-losing enteropathy, and interventions to support developmental and educational needs. Regular follow-up with a multidisciplinary team of healthcare providers is essential to address the various aspects of the disorder.

Prognosis

The prognosis for individuals with Lymphatic Malformation 6 Syndrome varies depending on the severity of the symptoms and the effectiveness of management strategies. Early intervention and supportive care can improve quality of life and outcomes for affected individuals.

NIH genetic and rare disease info

• NIH info on Lymphatic malformation 6 syndrome

Lymphatic malformation 6 syndrome is a rare disease.