Stromme Syndrome: Symptoms, Treatment Options and Your Plan of Action

Updated February 19, 2020

This article was scientifically reviewed by Brenna Bentley

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A list of references is also included at the bottom of this article.

Stromme syndrome is rare, with roughly 50 known cases in the world as of 2019.

What's in this Guide?

Disclaimer: Before You Read

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Recently Diagnosed? Start Here

Receiving a diagnosis of Stromme Syndrome could be a lot to absorb. Some might feel that this diagnosis provides an answer to a long diagnostic odyssey, while some might just feel lost. You are not alone. Stromme Syndrome is a rare condition, but a community does exist.

Each family has a unique journey ahead of them but they will not be on it alone. Finding a team of physicians and specialists that you trust will be important moving forward. In this guide, you will find a lot of information about Stromme Syndrome.

Take your time moving through the sections and feel free to read it a few times. YourDNA is here for you, and we are so glad you are here.

Quick Overview

Stromme Syndrome is named after Peter Stromme, a Norwegian pediatrician who first discovered the abnormalities back in 1993.

The name did not get coined until 2007 when another professional discovered another case of it. In 2015, it was identified that harmful changes in the gene CENPF are the cause of Stromme Syndrome.

Stromme syndrome can have an impact on many different systems of the body but is often linked to microcephaly, particular problems with the eyes and issues with the intestines 1.


What Is Stromme Syndrome?

This syndrome is an autosomal recessive congenital disorder 2, caused by two non-working copies of the CENPF gene. Stromme syndrome is essentially a birth defect that can alter the way several systems within the body work.

 Before receiving the name Stromme Syndrome, this condition was termed Apple Peel Syndrome with Microcephaly and Ocular Anomalies, which highlights the main three affected organs: intestines, eyes, and brain. Sometimes other organs such as kidneys or heart can also have complications. 3

Clinical features of Stromme Syndrome

Intestinal Atresia

One of the most common findings for individuals with Stromme Syndrome is jejunal or duodenal atresia both of which are a type of intestinal atresia. This means that a specific section of the small intestine, called the jejunum, is not connected to the rest of the intestines.

In Stromme Syndrome, the intestine also tends to wrap around the blood supply for the intestines which makes it look like skin of an apple after it is cut off in one single piece, giving it the name of apple-peel atresia. 

Ocular Anomalies

Stromme syndrome causes variable ocular abnormalities as well. Someone with the syndrome may be completely blind or at least visually impaired.

Individuals with this condition especially have issues with the front 1/3 of their eye. They might have small eyes (microphthalmia), small cornea, cataracts, a pupil which looks like a keyhole, corneal leukemia, or the iris might be attached to the cornea.

Microcephaly

Strome Syndrome is also a microcephaly syndrome. This means that during gestation the brain did not develop fully and is smaller than what is expected, this in turn causes the individuals head to also be small. Cerebellar hypoplasia and corpus callosum hypoplasia can also be present.

Other Affected Systems

Stromme Syndrome can also include involvement of other systems. A patient's renal and cardiac systems may also be impacted. Underdeveloped kidneys and small muscle cells of the heart may be seen in patients with this condition.

Many areas can be affected, making it imperative for doctors to watch people with this syndrome closely and determine the best plan of action and care.

Other Features

Individuals with Stromme Syndrome often experience developmental delay. This means that it might take them longer to develop certain skills or learn a new task. 

Some cases have reported physical differences such as: short stature, large ears which are low set, a small jaw, and sparse hair.

Is Stromme Syndrome Hereditary?

Parents may want to know if it's possible to pass Stromme syndrome down through their genes.

Stromme Syndrome is an extremely rare hereditary condition. In order for someone to be affected with this condition they would have to inherit two non-working copies of CENPF, one from their mom and dad. Having only one non-working copy of the gene is not sufficient to cause the signs and symptoms of Stromme Syndrome.

If two individuals, each with a non-working copy of CENPF, decide to have a child then there is a 25% chance that they will have a child with Stromme Syndrome. 

That is why it is a very rare condition with little worry for parents.

What Causes Stromme Syndrome?

Harmful Variants in the CENPF gene 4, or centromere protein F, are what causes Stromme syndrome.

The gene that is responsible for this condition, CENPF, is a good gene. Everyone carries two copies of this gene, one from their mother and one from their father. This gene makes a protein which is responsible for helping our cells divide.

An individual will develop Stromme Syndrome if they have a compound heterozygous mutation meaning they inherited two non-working copies of CENPF.

If both copies of this gene are not working like they are supposed to, then our cells have a hard time dividing and developing into organs. This condition has the features of a human ciliopathy.

The CENPF protein is involved in making sure that our cells divide through interaction with the cell’s cilia, as such this condition is considered a ciliary disorder. 

Stromme syndrome is the only health condition that appears to be related to changes in this particular gene.

Some may refer to it as the Stromme syndrome gene because of this.

The gene is located at 1q41. It is chromosome 1 at position 41. You may see the terms STROMS, CENF, hcp-1, CILD31, or PRO1779 as other names for this gene.

Diagnosis of Stromme Syndrome

A doctor needs to officially diagnose Stromme syndrome if you want to get the answers you need about your child’s care and quality of life.

Stromme Syndrome is a very rare condition, making it difficult at times to detect. Due to the number of body systems involved it can be difficult to recognize. It might be difficult to view all of the symptoms together instead of in isolation. In order to provide a diagnosis of Stromme Syndrome, genetic testing is required.

How Do You Diagnose Stromme Syndrome?

Diagnosing Stromme Syndrome starts by monitoring the patient’s signs and symptoms. The main three affected organs: brain, intestines, and eyes will display signs from birth. As such, the condition is almost always identified in infancy. 

Individuals may have vision problems, a blocked intestine, microcephaly that affects the shape of the head, or other issues that a doctor would notice immediately.

How Do Doctors Test for Stromme Syndrome?

After the identification of the signs listed above, a doctor might want to run several types of scans, as well as take a blood test. The blood test will look at an individual's genetic information to determine if the patient has any harmful changes in theirs.

If a harmful difference (pathogenic variant) is identified in the CENPF gene, then a diagnosis of Stromme Syndrome is made.

Stromme Syndrome and Genetics

Since Stromme is a genetic disorder, looking at a person’s genes is the best way to determine for sure if they have the syndrome.

Speaking with a genetic counselor or a medical geneticist is the best option in this case since they have specific training in genetic disorders and will be able to provide extensive information.

Genetic Tests of Stromme Syndrome - Are They Available?

Genetic tests for Stromme syndrome are only available from a licensed physician. You need to speak to your doctor or a genetic counselor about receiving this type of test.

No over-the-counter tests or tests you can send into a lab yourself are going to provide full details on this syndrome.

DNA Testing to Spot or Detect Stromme Syndrome Early

You might be able to get a test done to spot or detect Stromme syndrome early.

The best indicators, however, are typically once the child is born and they actually exhibit certain characteristics.

Testing for Stromme Syndrome on a Pregnancy or Before Pregnancy is Achieved

You can determine if your child has Stromme syndrome or at least certain aspects that may indicate the syndrome, through tests to detect abnormalities.

Test for these by going to your doctor and having them perform an amniocentesis.

Doctors may need to wait until after the child is born to get a closer look at their chromosome mutations to verify if it is, in fact, Stromme or another similar disorder.

Many genetic disorders exist that could be the culprit for similar developmental issues present.

Where Can I Go for a Genetic Test?

You should speak with your doctor about genetic testing for Stromme syndrome if you want to find out if you carry a non-working copy of the Stromme syndrome gene and have the possibility of passing it to your child.

Even though this is extremely rare, it is still possible and may be on the mind of couples hoping to start trying for a family.

Your doctor may recommend seeing a genetic counselor. A professional in this field may have better insight into the disease and the possibility of a child having it based on your DNA.

A sequence analysis of the entire coding region may be necessary for a fully comprehensive report that shows all areas.

DNA Testing for Stromme Syndrome: Strengths and Limitations

There are strengths and limitations to DNA testing for Stromme syndrome and any other condition. Because the disease is so rare, not all DNA tests are going to include information about it.

Tests are also only up to 99.99% accurate, and that’s if you take a quality test with a physician.

There is always a small chance that the results are wrong. The chances of that happening, however, are about as slim as developing the syndrome itself.

What Are the Chances I Will Pass Strome Syndrome Onto My Child?

The chances are very slim that you will pass Stromme onto your child. You and your partner would both have to pass a mutated CENPF gene to your child in order for them to be affected.

The recessive disorder is so rare because it involves obtaining a mutated form of the gene from each parent, and not just one or the other.

Only 50 Stromme syndrome cases are currently known as of 2019, and that's in the entire world.

Who Does Stromme Syndrome Typically Affect?

Infants are often the ones affected by Stromme syndrome. It may be found during pregnancy or once the child is born.

It seems as though many of the reported cases have been girls, though it is said that the syndrome does not discriminate based on gender. Males can have it as well.

Does Stromme Syndrome Occur in Children?

Yes, Stromme syndrome does occur in children. It can occur in males and females and is primarily seen in infants or babies.

At this time the lifespan of individuals with Stromme Syndrome is unknown. Some individuals with Stromme Syndrome are currently in their 20s. However, some individuals may die in utero because the problems are too severe.

Stromme Syndrome Treatment Options

You may want to know if Stromme syndrome is even treatable, particularly if you have a child with it. The syndrome itself is not treatable 5, but some of the related problems are.

For example, surgery can correct intestinal atresia. This may allow the intestines to operate freely without any obstructions, eliminating this problem of the disorder.

However, it can also lead to malabsorption because an entire portion of the intestine might need to be removed.

This could mean the child would have difficulty getting nutrients from food.

Many of the other symptoms of  Stromme Syndrome cannot be corrected.

The Prognosis for Stromme Syndrome

The prognosis for Stromme syndrome is not ideal. Most infants do not live long and do not even reach childhood.

At this time the life-expectancy of Stromme Syndrome is still being investigated. With such a few known cases of this syndrome, it is difficult to predict outcomes. Some cases of Stromme Syndrome die prior to delivery or in early life.

On the other hand, some cases appear to have normal survival, some with and without mild to moderate cognitive impairment. 

As of 2019, there is a case of a girl named Ruby with the syndrome who reached 14 years of age.

Does Stromme Syndrome Go Away?

Stromme syndrome does not ever go away. Once a child is born with it, they have it for life.

Treatment options only take away some symptoms but no cure exists to eliminate all of the associated problems.

Stromme syndrome DNA repair is not a possibility as it is with some other conditions.

The mutated gene cannot be corrected and the mutation always remains.

Is There a Cure for Stromme Syndrome?

There is no cure for Stromme syndrome, and there most likely never will be. Instead, there are just a few treatment options for some of the associated problems.

The Stromme syndrome life expectancy is low because of this. Many do not live to be a toddler. The issues developed from Stromme are too severe for most to have a good quality of life.

What Are Stromme Syndrome Care Options?

Parents with children who have Stromme syndrome may be able to care for their children at home.

However, they will need to have many doctor visits and work closely with their child’s physician to keep up on symptoms and allow their son or daughter to experience the best quality of life possible.

Those children badly affected by the disorder may need round-the-clock care at a facility instead.

The outcomes vary depending on the severity of the syndrome and the home life of the child.

Referenced Sources

  1. Stromme syndrome.
    National Center for Biotechnology Information. Retrieved online. 2019.
  2. STROMME SYNDROME; STROMS.Online Mendelian Inheritance in Man. 02/27/2019.
  3. Apple peel intestinal atresia in siblings with ocular anomalies and microcephaly. Strømme P1, Dahl E, Flage T, Stene-Johansen H. Oct 4, 1993.
  4. CENPF gene.
    National Library of Medicine. June 11, 2019.
  5. Apple peel intestinal atresia in siblings with ocular anomalies and microcephaly.
    The University of Arizona Health Sciences. 2019.