Stromme Syndrome

Updated April 24, 2019

This article was scientifically reviewed by YourDNA

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When a new diagnosis is given by your child's doctor, information is what you need most. You need it fast, you need it to be accurate and you need to be able to understand it so you can make the best decisions possible for your family.

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Disclaimer: Before You Read

It is important to know that your genes are not your destiny. There are various environmental and genetic factors working together to shape you. No matter your genetic makeup, maintain ideal blood pressure and glucose levels, avoid harmful alcohol intake, exercise regularly, get regular sleep. And for goodness sake, don't smoke.

Genetics is a quickly changing topic.

At YourDNA, we feel it's important that you have all the pertinent facts in hand to help you make those all-important decisions.

Quick Overview

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

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?

Known as an autosomal recessive congenital disorder 2, meaning a Stromme syndrome diagnosis will show in a person's DNA. It's essentially a birth defect that can alter the way several systems within the body work.

Apple peel syndrome 3is synonymous with the name when microcephaly and ocular anomalies are accompanied.

Ciliary dyskinesia is another name for the syndrome since it is a ciliopathy, which is a genetic disorder that changes the cellular cilia.

Intestinal atresia is a common part of this disorder. There may be an obstruction or blockage somewhere within the intestine that prevents it from operating as normal.

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

Possible vision problems due to this syndrome include angular dysgenesis, micro cornea, cataracts, sclera cornea, iris colobomas, corneal leukemia, hypoplasia, or anterior synechiae.

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.

Three key features are shown in people with Stromme syndrome. These are what doctors will look at first when determining if a child does, in fact, have it.

These are: small head size, eye abnormalities, and apple-peel atresia, which is an intestinal condition.

It is named as such due to the fact that the intestine resembles an apple peel.

The small intestine wraps around the blood supply in a spiral shape making it look similar to the skin of an apple after it is cut off in one single piece.

People with this problem may have a portion of their small bowel actually missing.

The eye abnormalities may simply appear as very small eyes, eyes that are far apart, or corneas that are not attached properly to the iris.

It might look like the black that sits in the center of the eye is running down into it instead.

Is Stromme Syndrome Hereditary?

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

Stromme syndrome is one of the hereditary ocular diseases that children may develop.

Since it is a recessive disorder, the child will only develop the disease if he or she receives an infected copy of the gene from both parents, not just one or the other.

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

What Causes Stromme Syndrome?

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

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.

It is sometimes difficult to diagnose the syndrome because it can cause so many different issues.

They may think it is only microcephaly at first, or only ocular abnormalities, etc.

Further testing needs to be done to determine if the actual syndrome is present.

How Do You Diagnose Stromme Syndrome?

Diagnosing Stromme syndrome starts with the monitoring of symptoms and problems the infant experiences.

It will almost always be caught in infanthood because of the many issues a child who is born with this disorder faces.

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

The doctor will look for the three key features first, which we indicated are small head size, unusual appearance of the eyes, and problems with the intestines.

How Do Doctors Test for Stromme Syndrome?

Doctors will look for common Stromme syndrome characteristics first. Ocular features, such as deep-set or wide-set eyes.

These ocular anomalies are not present in every case, but some issue with the eyes or problem with vision is going to be seen if the child has this syndrome.

Systemic features may include low-set ears, a cleft palate, and a short stature. Numerous systems within the body would be compromised, not just one or two.

The doctor may want to run several types of scans, as well as take a blood test, to determine what areas are affected.

If multiple systems have an abnormality shown on the scans, and the mutated genes that indicate Stromme syndrome are found during a blood test, this is how the diagnosis 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 mutated gene and therefore, the syndrome.

Speaking with a genetic counselor is the best option in this case since they have the most experience with genetic disorders and will best understand what certain markers indicate.

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.

They may only detect a sign or two that may or may not be related to the syndrome at all.

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.

The appearance will most likely be abnormal compared to a child without any mutated genes or disorder.

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 the Strome 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 that minute 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.

People do not tend to live to adulthood when they have the syndrome, though it is possible. Some may even 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 ailments that plague a child with Stromme 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.

However, some cases may be minor and allow a child to continue to live into adulthood. As of 2019, there was 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 a 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.

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Referenced Sources

  1. Stromme syndrome.
    National Center for Biotechnology Information. Retrieved online. 2019.
    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.