Bones / OrthopedicsEye Health / BlindnessGeneticsPediatrics / Children's HealthUrology / Nephrology

What is Stromme syndrome?

Stromme syndrome is a very rare genetic disorder. It affects different body systems and induces irregularities in the bowels, eyes, and skull.

Other parts of the body, such as the renal and cardiac systems, may also be affected.

Stromme syndrome arises due to genetic mutations in the CENPF gene. The CENPF gene is involved in the regulation and synthesis of DNA, so skeletal growth can be affected by mutations in it.

To learn more about Stromme’s syndrome, including its causes, signs, and outlook, keep reading.

Definition

foetal anomaly scans

Stromme syndrome is a genetic disorder.

Babies with Stromme syndrome are born with an incomplete intestine, ocular anomalies, and in most cases, a smaller-than-average skull.

Petter Strømme, a Norwegian pediatrician, and his colleagues first identified the condition. They did so on the basis of two sisters who were 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, for a disorder affecting infants born with identical clinical symptoms, clinical geneticist Yolande van Bever and associates suggested the name “Stromme syndrome.”

Causes

Stromme syndrome triggers genetic mutations in the CENPF gene.

This gene codes for centromere protein F. This protein’s location suggests that it plays a part in the division of chromosomes.

Chromosome division occurs when after splitting from each other, two sister chromatids move to opposite poles of the cell nucleus.

Symptoms

Stromme syndrome is characterized by three common symptoms. That involve intestinal atresia, ocular and cranial anomalies.

The following sections will look at these in more detail.

Intestinal atresia

Jejunal, or intestinal atresia, is one of the major signs of Stromme syndrome. Stromme syndrome infants are born with intestinal atresia, which refers to the incomplete development of part of the small intestine.

Intestinal atresia, also known as apple peel syndrome, causes the main artery that sends blood to the colon to twist around a portion of the small intestine. This can cause intestinal blockages.

Ocular anomalies

Infants born with Stromme syndrome tend to have eyes that are underdeveloped and a number of eye anomalies. This 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.

Cranial anomalies

The appearance of cranial anomalies is another common symptom of Stromme’s syndrome. It is possible that children with Stromme syndrome have microcephaly. This is a disease that causes a child to have a much smaller head than average.

Not all children with Stromme syndrome, however, suffer from microcephaly. A typical head circumference is present in some infants with this disorder.

Other complications

One study notes that with their renal and cardiac systems, some infants born with Stromme syndrome have accompanying problems.

Diagnosis

By examining the infant’s symptoms, healthcare professionals can diagnose Stromme syndrome. Genetic testing may however, provide complete proof of the existence of Stromme’s syndrome.

Sometimes it is possible to diagnose intestinal atresia before birth. During a prenatal ultrasound or fetal MRI scan, healthcare practitioners may do that.

When the typical symptoms of intestinal atresia are present, they may also make a diagnosis after birth. These symptoms include:

  • abdominal swelling
  • absence of bowel movements
  • failure to thrive
  • feeding difficulties
  • vomiting bile

Any cranial and ocular anomalies may also be identified by healthcare professionals with an ultrasound or MRI scan before birth.

Outlook

Stromme syndrome can be fatal in early life in some cases. But some infants have a good general condition.

If a healthcare provider diagnoses intestinal atresia prior to birth and completes the procedure promptly after the child is born, it may be helpful. This will decrease the danger of complications.

Surgery is the treatment for intestinal atresia.

Total parenteral nutrition (TPN) is also required after the procedure for a period of time. In TPN, infants intravenously take on their necessary nutrients, bypassing the normal eating and digestion process.

This is only temporary and will only be in place before the intestine of the baby starts working properly.

Summary

A very rare genetic disorder that affects babies is Stromme syndrome.

It is made up of three main symptoms: intestinal atresia, ocular anomalies, and cranial anomalies. Nevertheless, cranial anomalies are not present in all babies with Stromme syndrome.

For the treatment of intestinal atresia, surgery is required.

For newborns, Stromme syndrome can be fatal. Some, however are in good general health.

In 1993, experts first described Stromme syndrome, but there has been no study later in life into the effects of the condition.

Check Also
Close
Back to top button