Stromme syndrome

An autosomal recessive congenital disorder affecting multiple systems with features of a ciliopathy. Affected individuals typically have some type of intestinal atresia, variable ocular abnormalities, microcephaly, and sometimes involvement of other systems, including renal and cardiac. In some cases, the condition is lethal in early life, whereas other patients show normal survival with or without mild cognitive impairment (summary by Filges et al., 2016).

Also known as: CILD31, Stromme syndrome, apple peel syndrome with microcephaly and ocular anomalies, apple-peel intestinal atresia-ocular anomalies-microcephaly syndrome, ciliary dyskinesia, primary, type 31, jejunal atresia with microcephaly and ocular anomalies, jejunal atresia-microcephaly-ocular anomalies syndrome, lethal fetal brain malformation-duodenal atresia-bilateral renal hypoplasia syndrome

0 clinical trials for this condition and its sub-types, 0 tagged with Stromme syndrome itself.