Bamforth-Lazarus syndrome

Bamforth-Lazarus syndrome is a very rare condition that mainly features congenital hypothyroidism due to thyroid dysgenesis, most often seen as athyreosis. People with this condition may have a cleft palate and spiky hair. In some cases, additional features such as choanal atresia (a blockage of the back of the nasal passage) and a split (bifid) epiglottis are also noted. Some individuals may show facial differences and rare problems such as porencephaly, where there are cavities or cysts in the brain. Overall, the condition is defined by a combination of thyroid issues, distinct facial features, and specific physical findings at birth.

The most common symptoms of Bamforth-Lazarus syndrome include congenital hypothyroidism, cleft palate, and spiky hair. Other signs that can occur in some cases include choanal atresia, a bifid epiglottis, facial dysmorphism, and in rare instances, porencephaly.

Bamforth-Lazarus syndrome is linked to abnormalities in the FOXE1 gene. It is believed to be caused by thyroid dysgenesis, where the thyroid gland does not form correctly, leading to congenital hypothyroidism. The genetic variations affecting FOXE1 are thought to be a key factor in the development of this syndrome.

Information about treatment is currently limited for this condition. Management generally focuses on treating the symptoms, such as managing thyroid hormone levels and addressing any structural issues like a cleft palate.

Information about prognosis is currently limited for this condition. People with Bamforth-Lazarus syndrome may require coordinated care due to the range of features associated with the syndrome.

Information about research is currently limited for this condition. Ongoing studies may focus on understanding the role of the FOXE1 gene and the underlying mechanisms of thyroid dysgenesis in this syndrome.