Hennekam syndrome
Hennekam Syndrome
Hennekam syndrome (/ˈhɛnɪkæm/; also known as Hennekam lymphangiectasia-lymphedema syndrome) is a rare genetic disorder characterized by lymphedema, intellectual disability, and distinctive facial features. The syndrome was first described in 1989 by Dutch pediatrician Cornelis Hennekam.
Etymology
The syndrome is named after Cornelis Hennekam, who first described the condition. The term "lymphangiectasia" refers to the dilation (expansion) of the lymphatic vessels, which is a common feature of the condition. "Lymphedema" refers to swelling caused by a blockage in the lymphatic system.
Symptoms
The symptoms of Hennekam syndrome can vary greatly between individuals. However, common symptoms include lymphedema, particularly in the limbs and face, intellectual disability, and distinctive facial features such as a flat nasal bridge, wide-set eyes, and a small lower jaw. Some individuals may also have malformations of the heart, lungs, or intestines.
Causes
Hennekam syndrome is caused by mutations in the CCBE1 or FAT4 genes. These genes are involved in the development of the lymphatic system, and mutations can disrupt this process, leading to the symptoms of Hennekam syndrome.
Diagnosis
Diagnosis of Hennekam syndrome is based on the presence of characteristic symptoms and can be confirmed by genetic testing.
Treatment
There is currently no cure for Hennekam syndrome. Treatment is focused on managing symptoms and may include physiotherapy for lymphedema, special education for intellectual disability, and surgery for malformations.
See also
References
External links
- Medical encyclopedia article on Hennekam syndrome
- Wikipedia's article - Hennekam syndrome
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