/Stromme syndrome

Stromme syndrome

Rare Disease

MONDO:0009477

Also Known As

CILD31Stromme syndromeapple peel syndrome with microcephaly and ocular anomaliesapple-peel intestinal atresia-ocular anomalies-microcephaly syndromeciliary dyskinesia, primary, type 31jejunal atresia with microcephaly and ocular anomaliesjejunal atresia-microcephaly-ocular anomalies syndromelethal fetal brain malformation-duodenal atresia-bilateral renal hypoplasia syndromelethal foetal brain malformation-duodenal atresia-bilateral renal hypoplasia syndromeprimary ciliary dyskinesia 31STROMSciliary dyskinesia, primary, 31ciliary dyskinesia, primary, 31, formerly

Definition

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).