Lymphedema-posterior choanal atresia syndrome

A rare genetic disorder characterized by lymphedema and choanal atresia

Lymphedema-posterior choanal atresia syndrome is a rare genetic disorder that is primarily characterized by the presence of lymphedema and choanal atresia. This condition is inherited in an autosomal recessive pattern.

Presentation

Individuals with lymphedema-posterior choanal atresia syndrome typically present with two main features:

• Lymphedema: This refers to the swelling that generally occurs in the arms or legs due to a blockage in the lymphatic system. The lymphatic system is part of the immune system and helps to protect the body from infection and disease. In this syndrome, lymphedema is often present from birth or develops in early childhood.

• Posterior choanal atresia: This is a congenital condition where the back of the nasal passage (choana) is blocked, usually by abnormal bony or soft tissue. This blockage can cause difficulty breathing, especially in newborns, as they primarily breathe through their nose.

Genetics

Autosomal recessive inheritance pattern

Lymphedema-posterior choanal atresia syndrome is inherited in an autosomal recessive manner. This means that an individual must inherit two copies of the mutated gene, one from each parent, to be affected by the disorder. Parents of an affected individual are typically carriers, meaning they each carry one copy of the mutated gene but do not show symptoms of the disorder.

Diagnosis

The diagnosis of lymphedema-posterior choanal atresia syndrome is based on the clinical presentation of lymphedema and choanal atresia. Genetic testing can confirm the diagnosis by identifying mutations in the gene associated with the syndrome. Imaging studies, such as a CT scan, may be used to visualize the choanal atresia.

Management

Management of lymphedema-posterior choanal atresia syndrome involves addressing the individual symptoms:

• Lymphedema: Treatment may include physical therapy, compression garments, and in some cases, surgery to improve lymphatic drainage.

• Choanal atresia: Surgical intervention is often required to open the blocked nasal passage and improve breathing.

Prognosis

The prognosis for individuals with lymphedema-posterior choanal atresia syndrome varies depending on the severity of the symptoms and the success of the treatments. Early diagnosis and intervention can improve outcomes and quality of life.

Related pages

• Lymphedema
• Choanal atresia
• Genetic disorder
• Autosomal recessive