Overview

Fryns Syndrome is an autosomal recessive genetic disorder.¹ There have been studies to suggest genes could be involved in the development of Fryns Syndrome, but none have been directly linked to its cause.¹ Therefore, whilst parents will not display symptoms, they may pass on these genes to their children.

In many cases, Fryns Syndrome leads to miscarriage or stillbirth. However, some infants are born with a milder form of the disease. Whilst there is currently no cure for Fryns Syndrome, different interventions can be arranged depending on symptoms to support your child's healthy development.   

Common symptoms

Children with Fryns Syndrome often present with a range of distinctive symptoms.^1,2 They can range in severity and vary between each child. These can include the following:

• Congenital diaphragmatic hernia
• Underdeveloped lungs (pulmonary hypoplasia)
• Short bones at the ends of fingers and toes, which may result in small nails
• Facial features: coarse face, wide-set eyes, wide mouth, small jaw, large distance between the base of the nose and the upper lip, low-set ears
• Cleft palate/lip
• Gastrointestinal issues such as exomphalos, intestinal malrotation, and anorectal malformations
• Developmental delay
• Dandy-Walker Syndrome, seizures, and other neurological issues
• Cardiovascular issues
• Kidney dysplasia 

Dr. Anne Slavotinek outlines 6 criteria for the identification of Fryns Syndrome.¹ Many of these symptoms could relate to other genetic diseases. If your child presents with 3 or more of these characteristics, further genetic testing will be performed to confirm the nature of your child’s condition. 

Feeding difficulties in Fryns Syndrome

If your child is confirmed to have Fryns Syndrome, they are likely to require highly specialised support. The difficulties you experience with feeding your child will depend on their symptoms. Here we will discuss some of the most common issues and how they can be managed.

Congenital diaphragmatic hernia

Congenital diaphragmatic hernia (CDH) is a condition that can occur during foetal development. It is a common symptom of Fryns Syndrome, and is one of the clinical indicators used in its diagnosis.^1,2

CDH can be detected on ultrasound scans before your baby is born. This can lead to the identification of Fryns Syndrome prior to birth if other characteristic symptoms are also found. 

Once your baby is born, they will need assistance with breathing via a breathing tube. This will allow them to reach a more stable condition before attempting surgical treatment. The surgery aims to return the internal organs to their proper place as well as patching the hole in the diaphragm.³ 

Whilst waiting for treatment, your baby’s stomach is kept empty through the use of a nasogastric tube. As organs such as the stomach and intestines move into the chest cavity due to CDH, keeping the digestive tract empty alleviates the pressure on the lungs. During this time, your baby receives nutrients intravenously. 

After surgery, your infant will be tube fed. The type of tube used for feeding will depend on other symptoms your child may have.⁴ Some children may also require tube feeding for longer than others. Children with Fryns Syndrome are likely to require long term tube feeding due to complications caused by their other symptoms. Your healthcare specialists may discuss the possibility of your child using a gastrostomy tube before they are able to wean them on to oral feeding. 

Cleft palate and cleft lip

Some children are born with a cleft in their lip or the palate of their mouth. This makes it difficult to bottle or breastfeed your child. 

Cleft lip can sometimes be detected on ultrasound scans. This can be used alongside CDH in the identification of Fryns Syndrome at the prenatal stage.² 

Repair surgery for cleft lip is available for children who are at least 3 months old, and at least 6 months old for cleft palate. 

If your child has Fryns Syndrome, a cleft palate/lip will mean it could take longer for your child to be able to be fed orally if they have had previous surgery for CDH. In the case that your child does not present with CDH, they should be able to be bottle or breastfed under specific guidance from your healthcare specialists. The Cleft Lip & Palate Association has helpful guidance for feeding your child here. 

Gastrointestinal issues

One of the most direct impacts to feeding and nutrition in Fryns Syndrome are symptoms which can affect the gastrointestinal tract. Whether these issues are present in your child depends on the genes they possess.¹ Some of the most notable gastrointestinal symptoms of Fryns Syndrome are listed below, along with ways in which they can be managed.

Gastroesophageal reflux  

Gastroesophageal reflux (GER) is a normal occurrence in newborn babies. However, symptoms can worsen if your child has CDH. This increases the risk of malnourishment, especially for children with Fryns Syndrome. 

If you or your child’s healthcare team suspect that this is impacting your child’s nutrition, you will be able to receive support depending on the severity of GER. This can include the use of thickened feeds, medication, or fundoplication in extreme cases.

Exomphalos

Exomphalos, or omphalocele, is defined as the incomplete development of the abdominal wall during prenatal development.⁵ It can result in the intestines as well as other abdominal structures forming outside of the foetus’s body. This can be detected in prenatal scans. 

Whilst this can be treated, your child will need to be placed in intensive care to give them the best chance of recovery. They will undergo surgery to restore the correct positioning of the intestines. Your child will be fed parenterally until they are strong enough to progress to tube, and eventually oral feeds.⁴ 

Intestinal malrotation

Malrotation is a condition that can occur during foetal development. This is different to exomphalos, as in cases of malrotation, the intestines are contained within the body but they are formed in the incorrect location or arrangement. Most babies born with this condition do not experience any symptoms as there is little to no impact to their digestion.⁶

However, if you notice that your child is in pain a short time after being fed, this could be indicative of a blockage or lack of blood flow to their intestines. This will require surgical treatment to reposition the intestines. In most cases, children are able to feed normally after recovery.

Anorectal malformations

The rectum is the lowest segment of the large intestine and is connected to the anus, which is the end of the gastrointestinal tract. These are essential structures that allow for the removal of solid waste products after digestion. Anorectal malformations limit or prevent this from occurring. This can cause symptoms such as constipation and the appearance of stool within your child’s urine.⁷ 

The direct cause of anorectal malformations is unknown, but it has been noted that they are more common in patients with genetic conditions such as Fryns Syndrome.^1,7 They occur during foetal development but can only be identified after birth.

There are various types of anorectal malformation, which are explained in more detail here. Your child will require surgery to address this issue. Your healthcare specialists will be able to explain what type of malformation your child has and what surgery will be best to treat it. 

Babies often recover without any issues to their feeding or digestion. If you notice that your child continues to have issues with regular bowel movement or the appearance of blood or feces in their urine, notify a professional immediately.

Long term nutrition management

As with any other child, it is important to meet the nutritional needs for growth and development in children with Fryns Syndrome. 

Pediatric dietitians will regularly assess your child’s growth. According to your child’s symptoms, they will make specific dietary adjustments to match their needs.

Speech and language therapists will also work closely with your child to monitor their ability to swallow. This will determine whether they can make the progression from tube feeding to solid food, and any texture modifications in their feeds that will enable this.

FAQs

How common is Fryns Syndrome?

Fryns Syndrome is very rare. Over 100 cases have been reported since 1979, which is when the condition was first described.^1,2  If you are concerned about whether you may be a genetic carrier for Fryns Syndrome or any other condition, you may consider seeking genetic counseling. 

Fryns syndrome vs Lujan-Fryns syndrome- is there a difference?

Yes. Fryns Syndrome and Lujan-Fryns Syndrome (LFS) are different conditions, so it is important that you are aware of which one applies to you. You can read more about LFS here.⁸

What is the life expectancy of someone with Fryns Syndrome?

Most babies diagnosed with Fryns Syndrome do not live beyond infancy.^1,2 However, as modern healthcare continues to advance, more children are able to live despite their diagnosis. With proper management and care, children with mild forms of Fryns Syndrome can live fulfilling life. 

Summary 

Feeding difficulties can arise in children who experience a multitude of symptoms as a result of Fryns Syndrome. Depending on the severity of their condition, their symptoms can be managed with the help of medical professionals. Surgical treatments are available for the most common symptoms that can affect feeding. Clear management plans are needed to ensure these children are able to recover as best as possible. With continuous support, it is possible for some children with Fryns Syndrome to be able to progress to eating solid food.