Stromme syndrome: a rare genetic condition characterized by birth defects or abnormalities in the eyes, intestines, and skull. The abnormalities vary among affected people, and sometimes problems with the kidneys or heart are also present. The condition results from a mutation in a gene known as CENPF, and it is inherited in an autosomal recessive manner, meaning that to be affected, an individual must receive a copy of the defective gene from each parent.

Symptoms
Apple-peel intestinal atresia, underdeveloped eyes, microcephaly with developmental delay; sometimes additional symptoms or fewer symptoms
Causes
Genetic (autosomal recessive mutation in CENPF)

Treatment

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