Hennekam lymphangiectasia-lymphedema syndrome 1

Hennekam lymphangiectasia-lymphedema syndrome 1 is a rare genetic condition that occurs when there is a mutation in the CCBE1 gene. This condition is one form of Hennekam syndrome, a group of disorders that affect the lymphatic system. In people with this condition, the lymphatic system, which helps manage fluid balance and immune responses in the body, may not work as expected.

Information about symptoms is currently limited for this condition.

Hennekam lymphangiectasia-lymphedema syndrome 1 is caused by mutations in the CCBE1 gene. This gene mutation disrupts the normal development and function of the lymphatic system. As a result, people with this condition may experience issues related to abnormal lymphatic vessel formation and fluid balance.

Information about treatment is currently limited for this condition.

Information about prognosis is currently limited for this condition.

Information about ongoing research and future directions is currently limited for this condition.