Strømme syndrome is a very rare autosomal recessive genetic condition characterised by intestinal atresia (in which part of the intestine is missing), eye abnormalities and microcephaly. The intestinal atresia is of the "apple-peel" type, in which the remaining intestine is twisted around its main artery. The front third of the eye is typically underdeveloped, and there is usually moderate developmental delay. Less common features include an atrial septal defect, increased muscle tone or skeletal abnormalities. Physical features may include short stature, large, low-set ears, a small jaw, a large mouth, epicanthic folds, or fine, sparse hair. The syndrome is caused by mutations in both copies of the CENPF gene, which codes for centromere protein F. This protein is involved in cell division, in which it forms part of a disc-shaped protein complex known as a kinetochore. CENPF also has a role in orienting long, cylindrical structures called microtubules to form thin cell protrusions called cilia, which send and receive signals to trigger cell division, migration or differentiation. Mutations in the gene result in slower cell division and some embryonic developmental processes being disrupted or not completed, and the syndrome can be classified as a ciliopathy. The syndrome is typically diagnosed based on the symptoms, but genetic testing provides a full confirmation. Treatment centres around the symptoms. The intestinal atresia is usually surgically correctable in infancy with anastomosis. The prognosis is not yet certain. Those who have survived birth and infancy (the majority) have continued to live through childhood and adolescence, but a large minority with the most severe cases have died before or shortly after birth. The prevalence is not yet known. , around 13 individuals had been diagnosed. The syndrome was first identified based on symptoms in two siblings by Norwegian paediatrician Petter Strømme and his associates in 1993. It was named after him in a 2008 study describing another patient. In 2015, mutations in CENPF were first identified as pathogenic, and a 2016 genetic analysis of Strømme's original two siblings found that both had mutations in both of their copies of CENPF, establishing it as the cause of the syndrome. Signs and symptoms The most common symptoms of Strømme syndrome are intestinal atresia, eye abnormalities and microcephaly. However, the syndrome has a wide range of severity that generally runs in the family it presents in, ranging from only mild learning disability and microcephaly with no other features in