Stromme syndrome is a very rare genetic condition. It affects multiple bodily systems and causes anomalies in the intestines, eyes, and skull.
It can also affect other areas of the body, such as the renal and cardiac systems.
Keep reading to learn more about Stromme syndrome, including its causes, symptoms, and outlook.
Stromme syndrome is a genetic condition.
Infants with Stromme syndrome are born with an incomplete intestine, ocular anomalies, and, in most cases, a smaller-than-average skull.
Norwegian pediatrician Petter Strømme and his associates first identified the syndrome. They did so based on two sisters born with:
- jejunal, or intestinal, atresia, which refers to a partial or complete absence of the membrane connecting the small intestines to the abdominal wall
- ocular anomalies, which are problems with the eyes
- cranial anomalies, which are problems with how the skull forms or fuses together
In 2007, clinical geneticist Yolande van Bever and associates proposed the name “Stromme syndrome” for the condition affecting infants born with similar clinical symptoms.
Genetic mutations to the CENPF gene cause Stromme syndrome.
This gene codes for centromere protein F. The position of this protein suggests that it plays a role in chromosome segregation.
Chromosome segregation occurs when two sister chromatids migrate to opposite poles of the cell nucleus after separating from each other.
Three typical symptoms characterize Stromme syndrome. These are intestinal atresia, ocular anomalies, and cranial anomalies.
The following sections will look at these in more detail.
One of the main symptoms of Stromme syndrome is jejunal, or intestinal, atresia. Infants with Stromme syndrome are born with intestinal atresia, which refers to the incomplete formation of part of the small intestine.
Intestinal atresia, also known as apple peel syndrome, causes a section of the small intestine to twist around the main artery that sends blood to the colon. This can cause blockages to the intestine.
Infants born with Stromme syndrome tend to have underdeveloped eyes and a variety of eye anomalies. These may include:
- Sclerocornea: This is an eye abnormality wherein the cornea blends with the white outer layer of the eyeball, causing there to be no clear-cut boundary between them.
- Microphthalmia: This is a condition wherein one or both of the eyes are unusually small.
- Microcornea: This is a condition wherein one or both of the corneas are unusually small.
- Ptosis: This refers to the drooping or falling of the upper eyelid.
- Epicanthus: This refers to a fold of skin on the upper eyelid that covers the inner corner of the eye.
Another common symptom of Stromme syndrome is the presence of cranial anomalies. Infants with Stromme syndrome are likely to have microcephaly. This is a condition that causes an infant to have a much smaller head than usual.
However, not all infants with Stromme syndrome have microcephaly. Some infants with this condition have a typical head circumference.
One report states that some infants born with Stromme syndrome have accompanying issues with their renal and cardiac systems.
Healthcare professionals may diagnose Stromme syndrome by observing the infant’s symptoms. However, performing genetic testing can provide full confirmation of the presence of Stromme syndrome.
They can also make a diagnosis after birth if the common symptoms of intestinal atresia are present. These symptoms include:
- abdominal swelling
- absence of bowel movements
- failure to thrive
- feeding difficulties
- vomiting bile
Healthcare professionals can also observe any cranial and ocular anomalies via an ultrasound or MRI scan before birth.
In some cases, Stromme syndrome can be fatal in early life. However, some infants have a good general condition.
It can be helpful if a healthcare professional diagnoses intestinal atresia before birth and carries out the treatment quickly once the infant is born. This can reduce the risk of complications.
The treatment for intestinal atresia is surgery.
Total parenteral nutrition (TPN) is often necessary for a period of time after the procedure. In TPN, infants take on their required nutrients intravenously, which bypasses the usual process of eating and digestion.
This is only temporary and will only be in place until the infant’s intestine begins to function correctly.
Stromme syndrome is a very rare genetic condition that affects infants.
It is characterized by three main symptoms: intestinal atresia, ocular anomalies, and cranial anomalies. However, cranial anomalies are not present in all infants with Stromme syndrome.
Surgery is necessary for treating intestinal atresia.
Stromme syndrome can be fatal for newborns. However, some have a good general condition.
Experts first identified Stromme syndrome in 1993, so there has been little research into the effects of the condition later in life.