Synopsis
recurrent invasive bacterial infections
Howell-Jolly bodies in the blood smear
relative with congenital isolated asplenia.
Etiology
isolated asplenia
- isolated congenital asplenia
- vanishing spleen and hyposplenism
syndromic asplenia
-
asplenia with situs ambiguus (heterotaxia)
- asplenia/polysplenia syndrome (Ivemark syndrome) (MIM.208530)
- deleted ring chromosome 4 (8933346)
Associations
cardiovascular malformations
- dextrocardia (11105625)
- transposition of the great vessels (TGV) (11105625)
- stenosis of the pulmonary artery (11105625)
- common atrioventricular canal (CAVC) (11105625)
- patent ductus arteriosus (11105625)
situs anomalies (heterotaxy)
renal dysplasia
- cystic dilated collecting ducts of the kidney (11105625)
cystic dilated collecting ducts of the kidney (11105625)
hepatopancreaticorenal dysplasia
- Crawfurd syndrome (hepatopancreaticorenal dysplasia with asplenia)