Stromme Syndrome: Causes, Symptoms, & Treatment

Stromme Syndrome: Causes, Symptoms, & Treatment

A very rare genetic syndrome, Stromme Syndrome affects the body systems along causing irregularity in body parts such as the eyes, skull, and intestines. It can also cause harm in other areas such as the cardiac system and renal. 

As mentioned in the previous paragraph, it is a rare syndrome and not many people have knowledge related to it. Hence we have gathered information about Stromme syndrome, to make it easier to understand we will be talking about the syndrome in detail. This article about the Stromme syndrome is divided into the following parts.

  1. Definition
  2. Who discovered
  3. The causes
  4. The symptoms
  5. The diagnosis
  6. The prognosis 
  7. The treatment
  8. Epidemiology
  9. Notable cases: Ruby 
  10. Bottom Line

Keep reading to learn everything about the Stromme syndrome!

What Is Stromme syndrome?

Stromme syndrome is a genetic condition in which a part of the intestine is missing that causes intestinal atresia, eye abnormalities, and microcephaly. It is a rare autosomal recessive state. 

Newborns who are born with incomplete intestines, irregularities, and having a skull smaller than average size (which happens in most cases) have Stromme syndrome. In such cases, the condition is characterized by intestinal atresia of the apple peel type, where the intestine is twisted around the main artery.

Who Discovered It?

Petter Stromme, a Norwegian pediatrician along with his associate first recognized and discovered the syndrome while examining two newborn girls Initially, it was nameless but later Yolande van Bever, a clinical geneticist proposed the name Stromme Syndrome in 2007. Stating it to be an inborn condition that has similar clinical symptoms. These sisters were born with the following:

  1. Ocular anomalies (problems related to eyes)
  2. Carnival anomalies (problem-related to skull forming together)
  3. Jejunal or atresia (complete or a partial absence of the membrane that connects the small intestine and abdominal wall)

What Are The Causes?

CENPF gene, a gene code for centromere protein F when mutated, causes Stromme Syndrome. Protein F plays an important role in chromosome segregation(click here). Chromosome segregation happens when chromatids (two sisters) migrate to opposite poles of the cell nucleus once they separate from each other. 

What Are The Symptoms?

Stromme Syndrome has basic three symptoms namely intestinal atresia, ocular anomalies, and cranial anomalies. Let’s discuss each in depth.

Intestinal Atresia

Stromme Syndrome: Causes, Symptoms, & Treatment 2 - Daily Medicos

Intestinal atresia is one of the most common symptoms of Stromme syndrome also known as jejunal. When babies are born with intestinal atresia meaning the incomplete formation of a part of the small intestine, they have Stromme syndrome. 

Intestinal atresia is also known as apple peel syndrome. This is because when a baby has intestinal atresia, a part of the small intestine is twisted around the main artery blocking the blood being transmitted to the colon and blocking the intestine.

Ocular Anomalies

Stromme Syndrome: Causes, Symptoms, & Treatment 3 - Daily Medicos

Here is an example of ocular anomalies. Babies born with underdeveloped eyes or any sort of eye anomalies have Stromme syndrome. These eye disorders can include any of the following conditions:

  • Sclerocornea

This is an eye anomaly wherein the cornea mixes with the white external layer of the eyeball, causing there to be no obvious limit between them.

  • Microphthalmia

This concerns the eye size of both the eyes. That is, either of the two eyes are smaller than the other one. 

  • Microcornea

This is a condition wherein either of the corneas are tiny. 

  • Ptosis

This means the hanging or falling of the upper eyelid. 

  • Epicanthus

This means to an overlap of skin on the upper eyelid that covers the internal corner of the eye.

Cranial Anomalies

Stromme Syndrome: Causes, Symptoms, & Treatment 4 - Daily Medicos

The presence of cranial anomalies is another symptom of Stromme syndrome. Babies born with Stromme syndromes might have microcephaly (having a skull much smaller than the regular size). Cranial anomaly is when a newborn’s skull is much smaller than the usual head size.

In any case, not all babies with Stromme condition have microcephaly. Some infants with this condition have a smaller skull.

Other than the above mentioned complications, newborns with Stromme syndrome sometimes also have renal and cardiac system accompanying problems.

Diagnosis of Stromme Syndrome

Stromme syndrome is generally diagnosed by observing an infant’s or newborn’s body at the time of birth or after. However, a detailed genetic test can help in providing a full confirmation of whether the infant has Stromme syndrome or not. 

In the presence of intestinal atresia, it is possible to diagnose it before birth, during pregnancy period. This can be done through prenatal ultrasound or MRI scan of the fetus.

In some cases, the diagnosis also takes place after the delivery due to the presence of intestinal atresia. The symptoms can include the following:

  1. Nausea
  2. Swelling in the abdomen
  3. No presence of solid discharges 
  4. inability to thrive

Prognosis

Stromme syndrome prognosis is not clear yet. There were newborns who had initially gotten Stromme syndrome who survived birth and infancy and continued to live their childhood and adolescence. However, many of those affected by Stromme syndrome died before or after birth. 

Treatment

Treatment of Stromme syndrome usually depends on the kind of symptoms a person suffers. In the case of intestinal atresia, surgeries can help, in the case of eyes, no surgery has been reported since 2017.

Epidemiology 

13 individuals have been diagnosed with Stromme syndrome, however, the prevalence of the syndrome is not known yet.

Notable Cases | Ruby

Ruby was diagnosed with Stromme Syndrome when she was in the NICU. However at that time stromme syndrome was commonly known as the apple peel intestinal atresia, ocular anomalies, and microcephaly syndrome(listing the symptoms one has in stromme syndrome).

Ruby’s major symptom was ocular anomalies. She has normal eyes but her corneas were extremely clouded at the time of her birth which made the doctors believe that she was totally blind. However, as she grew up she could feel and see colors around her meaning that she was only partially blind.

To get to know more click here to hear the journey from Ruby and her mom. 

Bottom Line

Specialists originally recognized Stromme disorder in 1993, so there has been little examination into the impacts of the condition further down the road.

Stromme syndrome is an extremely uncommon genetic condition that influences newborn children. 

It is described by three fundamental side effects: intestinal atresia, ocular anomalies, and cranial abnormalities. Nonetheless, cranial anomalies are absent in some babies with Stromme condition. 

Medical procedure is fundamental for treating intestinal atresia

Stromme disorder can be lethal for infants. Notwithstanding, some have a decent condition. 

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