Strømme syndrome

Strømme syndrome is a very rare autosomal recessive genetic condition marked by intestinal atresia, in which part of the intestine is missing, together with eye abnormalities and microcephaly. The atresia is of the apple-peel type, where the remaining bowel is twisted around its main artery, and the front of the eye is typically underdeveloped. Moderate developmental delay is usual. It is caused by mutations in both copies of the CENPF gene, which encodes a protein of the kinetochore, and it can be classed as a ciliopathy. Diagnosis rests on symptoms and is confirmed by genetic testing, and treatment addresses the symptoms, with the atresia usually surgically correctable in infancy. About thirteen people had been diagnosed by 2017. Norwegian paediatrician Petter Strømme identified it in two siblings in 1993. The record here describes the condition as medicine understands it and is not medical advice.