Familial isolated congenital asplenia
Autosomal dominant
Absence of the spleen from birth, without other malformations, that greatly increases the risk of serious pneumococcal and other bacterial infections.
What a diagnosis changes
An ultrasound can confirm the absence of a spleen, and vaccination and preventive antibiotics reduce the risk of severe infection.
Genes analysed
Also known as
asplenia, isolated congenital; ICAS
