Siegler-Brewer-Carey syndrome
Siegler-Brewer-Carey syndrome is characterized by cataracts, otitis media, intestinal malabsorption, chronic respiratory infection, and failure to thrive. It has been recently described in two sibs born to consanguineous parents. The patients also developed recurrent pneumonia and progressive azotemia leading to end-stage renal disease. Both children died of overwhelming infection (sepsis, meningitis). An autosomal recessive mode of inheritance was proposed.
MONDO:0005087
respiratory system disorder
is_a
Siegler Brewer Carey syndrome
related
fatal multisystem syndrome involving the eyes, ears, lungs, intestines, and kidneys
related