Introduction

Overview

Fryns syndrome is a rare condition affecting multiple systems, primarily affecting the diaphragm, face, lungs, and in some cases, the hands, toes, and nails. In even fewer cases, there has been involvement of the brain, heart, kidneys, and other body parts. There is no definite cause found however there has been a genetic component theorised, saying that it is an autosomal recessive condition- meaning it could be passed down from one’s parents' genes. The survival rate of infants with Fryns syndrome is sadly not very high, many babies have passed during the first few weeks because of the severity of the condition, however, there have also been reports of excellent recovery post-surgery, if addressed early on.^1,2

The recurrence of this condition is 1 in every 15,000 births, so it is quite infrequent. The literature on this condition is also scarce. It was first discovered in 1978 by the birth of twins with these physical features, and since then, there has been only an estimate of less than 100 cases recorded.⁴

Importance and purpose of addressing physical abnormalities

The areas of the body affected by this condition are important for immediate and life-long survival, if these anomalies are dealt with as early as possible, it will increase the chances of survival. The parents or guardians of the infant can be taught how to effectively care for the child and support them through their developmental milestones.

Most babies with this condition need to be intubated as soon as they are delivered to aid with their breathing. A trained professional inserts a small tube-like instrument into the baby's mouth or nose. This is done because of the complexities of breathing associated with the problems with the diaphragm and lungs in Fryns syndrome. In Fryns syndrome, the contents of the belly come into the chest cavity because of the deformity in the diaphragm (Congenital diaphragmatic hernia) and the lungs of the baby are underdeveloped (Pulmonary hypoplasia)- hence the immediate interventions done to the baby.

Along with these two presentations, other organ systems can be affected, most of them, life-threatening- surgical intervention is so crucial in order to preserve the baby’s life and improve their quality of life.

Common physical abnormalities in Fryns syndrome

Facial features

• Coarse Facies- lack of or minimally refined, sharp features such as eyebrows, lips, nose, mouth and chin
• Small eyes
• Wide distance between the eyes
• Facial hair growth
• Cloudy appearance in the eyes (corneas)
• The broad gap between the nose and mouth
• Cleft formation on one or both sides of the face (macrostomia)
• Cleft lip
• Small jaw
• Low-lying ears

Chest cavity features

• Congenital Diaphragmatic Hernia
• Pulmonary hypoplasia (this can also result in a small chest cavity)

Limb features

• Fused fingers (syndactyly)
• Multiple fingers (polydactyly)
• Missing fingers and nails
• Missing toes and nails

Along with these features, there are a few reports of babies being affected in their hearts, kidneys, genital region and brain:

1. Underdeveloped brain results in neurological malfunctions, development delays, poor coordination, seizures, etc
2. Cardiac problems that lead to filling defects in the heart where oxygenated blood may mix with deoxygenated blood
3. Because of the underdevelopment or improper development of the diaphragm, there may be developmental problems with the baby’s intestines and stomach causing difficulty in digesting food
4. Cyst formation in the kidneys or underdeveloped kidneys
5. Underdeveloped genital area in both males and females

The degree or extent to which a baby is affected by these features is incredibly variable and each child will have a unique management plan to provide the best treatment for them.³

Surgical approaches for specific abnormalities

Diaphragmatic hernia repair

The hernia repair for high-risk babies with this condition starts as early as possible in the delivery room itself.

• The baby will be intubated, as previously mentioned, to prevent the contents in the tummy from coming into the chest cavity. It is important to know that before any surgery is done the doctors’ priority is establishing that the infant is adequately breathing and has good respiratory function. Then, the surgeon will operate to correct the diaphragmatic hernia and this can be done in multiple ways
  • It could either be an open surgery or
  • A minimally invasive one 

The surgeon decides to enter through the wind-pipe, however, the method will be decided by a team of surgeons and specialists depending on the condition of the baby.⁵

• After surgery, there will be long-term surveillance of the baby at the Neonatal ICU (NICU) to ensure that all their vital signs are doing satisfactorily
• With modern advancements in medicine and surgery, the survival rate has increased. However, there will be constant check-ups organised for the baby by a specialised team of healthcare professionals including; paediatric surgeons, surgical nurse specialists, cardiologists, gastroenterologists, nutritionists, pulmonologists, paediatricians and advanced nurse practitioners⁸

Repairing facial features

Facial surgery mainly aids with breathing, eating, swallowing, speaking, and improving psychosocial impact on life. It is not done together in one stage, and the actual need for surgery is determined depending on the severity of the features. Surgery of any kind has its complications; if it is unnecessary, it will not be done. Surgery for the facial features may be done in stages throughout their childhood years as children are constantly growing and their tissues and bones grow and change at a rapid rate in comparison to adults; hence, they recover faster. The need for surgery will be discussed by a team of specialists such as paediatricians, paediatric surgeons, maxillo-facial surgeons, plastic surgeons, speech and language therapists, nutritionists, speciality nurses, etc.

Hands, toes and nails

Operation on hands and toes is not emergent, however, early surgery will help the child adapt functionally and improve their quality of life. The most common features of this condition are missing fingers, missing toes, or extra fingers and joint fingers. An orthopaedic surgeon or a paediatric surgeon can address those issues. After surgery, physiotherapists will help them gain more confidence in movement and allow a smooth transition post-surgery. This kind of surgery, despite these features being in no way life-threatening is highly recommended because it will help with the baby's reflexes, movement, and social aspects.

Respiratory interventions

Babies with this condition are reported to have under-developed lungs, which leads to breathing difficulties. It is challenging for anaesthetists to attempt intubation. Most of the time how this condition in the lungs is dealt with solely determines the baby’s survival in Fryns syndrome. There is no set standard therapy however a procedure called “Fetal endoluminal tracheal occlusion (FETO) by balloon” has shown positive results.⁹ Essentially, it is a temporary process and it is done before birth, it helps mature the child’s lungs. It is an insertion of a balloon into the windpipe that is done while the baby is in the mother’s tummy and it promotes the expansion of the baby’s lungs while it is growing in the uterus. What happens is that there’s a trap of lung fluid which forces the lungs to grow in size. With modern techniques, the features of Fryns syndrome can be detected early on and early intervention is always recommended to prevent complications at birth.⁶

Cardiac surgery

Heart complications in Fryns syndrome can be quite rare, however, it has been noted that some patients may have filling defects. Highly skilled cardiothoracic surgeons will perform cardiac surgery and the initial management plan will be discussed with a group of specialists. Special care must be paid in these cases because, with Fryns syndrome, it is likely that there is a diaphragmatic hernia, therefore extreme caution is needed with heart surgery.

If it is decided that the baby will be operated on for a heart problem, they will be monitored for a long time after surgery, to ensure that everything is good before discharging them home.

Conclusion

Every individual with this condition will have a different treatment plan because everyone’s stages or severity will vary. Most of the features may be diagnosed during prenatal check-ups and can be addressed during their fetal development period with advancements in surgery. A lot also remains a mystery with Fryns syndrome because it is extremely rare and has limited resources and research.

Surgery in Fryns syndrome will always be a call made by a coordinated surgical team of paediatric surgeons, orthopaedic surgeons, cardiologists, etc. In this kind of situation, it is important to consider multiple opinions to provide the best possible healthcare. Family support is essential in decision-making because Fryns syndrome is a multiple-organ condition and has a lot of risks associated with it.⁷