Siegler-Brewer-Carey syndrome

Siegler-Brewer-Carey syndrome is a rare condition that affects many parts of the body. It leads to problems in the eyes (such as cataracts), ears (otitis media), intestines (malabsorption), lungs (chronic respiratory infections), and kidneys. In reported cases, children showed failure to thrive along with recurrent pneumonia and progressive kidney issues that led to end-stage renal disease. The syndrome was observed in two siblings born to consanguineous parents, suggesting a genetic basis. Both children eventually developed severe infections, including sepsis and meningitis, which were fatal. This description highlights that the condition can affect multiple systems and lead to life-threatening complications.

People with this condition may experience eye issues like cataracts and ear infections such as otitis media. They may also have problems in the intestines, causing malabsorption, as well as chronic respiratory infections and recurrent pneumonia. Additionally, there may be signs of poor growth and progressive kidney problems.

The syndrome appears to be caused by an autosomal recessive gene defect. In the cases described, the condition was seen in children born to consanguineous parents, suggesting that both parents carried a gene change that contributed to the syndrome.

Information about treatment options is currently limited for this condition.

In the reported cases, the outlook has been poor. Progressive kidney failure and severe, life-threatening infections were observed, indicating that the condition can lead to serious complications.

Information about research is currently limited for this condition.