Introduction

Freeman-Sheldon syndrome, better known now as Freeman-Burian syndrome or “whistling face syndrome”, can be seen as an intimidating condition because of the scarcity and complexity of the information given. We aim to break it down into a simpler, understandable condition. Let’s dive in!

What is freeman-sheldon syndrome?

FSS is an uncommon condition that affects the structure of the face, the hands, the legs, and the spine in a few cases. This condition can also affect internal organs and lead to breathing problems after affecting your lungs. Everyone with this condition doesn’t come to the hospital with the same number of complaints; for instance, some may not have any problem with their hands, while some may have hand, leg, and back involvement, so the treatment for this condition is very unique and differently catered for each individual.

Freeman-Sheldon syndrome affects both males and females equally but occurs randomly. There is a stipulated genetic component, MYH3, a protein immersed in muscular development during fetal maturation that research says is associated with people who have this condition. It’s a very rare condition, and less than 100 cases have been reported to date. People all over the world are said to have reported this condition; it is not just limited to one region.⁸

Importance of surgical correction in FSS

Using surgery as an option for people with Freeman-Sheldon Syndrome is the most viable since it will increase the chances of them living a long, healthy, and risk-free life. There are possible limitations, but most people who have undergone surgery do continue to live a normal life with little to no trouble. The most common surgical interventions in those with FSS would be eye surgery, plastic surgery, and orthopaedic surgery to rearrange the bone structures of the hands, legs, and spine.

The purpose of this article is to walk you through an overview of the condition, the possible surgical procedures that can be done to help, and surgical complications that could occur.⁹

Background of freeman-sheldon syndrome

This condition was first brought to attention by Mr. Ernest Arthur Freeman and Mr. John Howard Sheldon in 1938 and has been revised by Professor Frederick Burian in 1962.³ This condition typically encompasses the involvement of the face and skull and also has frequent involvement of the hands and feet.²

Presenting features of the face and skull associated with this condition are

• Small, wrinkled mouth (Microstomia)
• Large forehead
• Sunken appearance of the middle area of the face (midface hypoplasia)
• Wide-set eyes (ocular hypertelorism) or cross-set eyes (strabismus)
•  Disarranged teeth (malocclusion)
• Narrowing of the eye-opening (blepharophimosis)
• Undersized tongue (microglossia) and jaw (micrognathia)
•  Droopy eyelids (ptosis) or downward slanting of the eyelid folds
• Small nose and underdeveloped nasal cartilage
• Long space between nose and mouth
• Raised mark on the chin in the shape of an H or a V

Other features of the body associated with FFS

• Bony changes of the hand
• Flexed fingers and thumbs
• Bony changes of the foot (Clubfoot)
• Curving of the spine
• Stiffness and tightening of joints in the body
• Problems of the eye, ear, stomach, lungs
• Undescended testes (Cryptorchidism)

The most important and life-threatening feature of some affected with FSS is a condition called Malignant Hyperthermia. Malignant Hyperthermia is a rare condition where there is a severe reaction to the use of an anaesthetic, which results in breathing problems, rigid muscles, high spikes in temperature, a fast heart rate, etc. This makes it quite tricky in a few cases where surgical options will be limited, and surgeons will have to be forced to seek a holistic and non-operative approach to treatment.

Impact on quality of life

People who have been treated with surgical and non-surgical approaches are said to have a good, average life expectancy. The outlook seems very positive even for people with breathing difficulties, once it has been managed. However, it must be noted that people living with this condition are prone to a few complications with movement, visual problems, hearing problems, and eating problems in comparison to someone without the condition.^4,5,6

We must also consider the psychological and social impacts of this condition and be more empathetic towards the situation. They could be offered talking therapy in hopes of lifting the weight off their shoulders and helping them navigate the implications of this condition smoothly. Most of the kids treated early on have grown up to live an ordinary life, working and raising a family.

Common surgical approaches

As mentioned, FSS can affect various parts of the body; hence, there will be a unique treatment plan drawn up for each case, and a group of doctors will be involved in deciding the best approach. This multidisciplinary group will include:

• Skull and face surgeons 
• Hand surgeons
• Foot and ankle surgeons 
• ENT (ear, nose and throat) specialists 
• Hearing Specialists
• Gastroenterologists 
• Geneticists
• Speech and Language Therapists 
• Psychologists, etc.

Cranio-facial surgeries

These surgeries focus on altering the bone structure of the skull and the face. These are done with the aims of restoring facial features, for example, lessening a prominent forehead, reducing the space between the eyes, increasing the size of the mouth, straightening the teeth, helping with eating difficulties and avoiding nutritional and psychological deficiencies.

The procedures include: 

• Cheiloplasty 
• Palatoplasty 
• Blepharoplasty 
• Oral commisuroplasties, etc. 

In people prone to developing Malignant Hyperthermia, the treatment options will be reconsidered with expert specialists.⁷

Orthopaedic surgeries

Orthopaedic involvement includes aiding with movement and restoring any malalignments. Clubfoot will most probably be treated by the Ponseti method, which is said to have excellent outcomes. Tendon releases and limb lengthening may also be considered. Bones, ligaments, and tendons of the hand, along with spinal curvatures, can be corrected by surgeons. There is very limited literature on the outcomes, hence, these interventions will be done after weighing out the pros and cons, especially because most people are prone to developing Malignant Hyperthermia and respiratory problems.

Physiotherapy plays a very important role in the management of Freeman-Sheldon syndrome as post-operation or otherwise, physiotherapists can guide people with FSS to improve movement and stability.

Plastic surgeries

Other surgical procedures

The rest of the possible surgical options may include plastic surgery to reconstruct bony or skin changes and help with the psychosocial impact. If the person with this condition has other gastric or respiratory problems, this can be surgically corrected to avoid complications, such as airway obstruction, later on in life.

These surgeries can include Tracheostomies and airway reconstruction surgeries.

If there are gastrointestinal problems or visual or hearing problems, they will also be referred for management, and surgery will be the last resort when all other methods have failed.

Timing and sequence of surgeries

It should be understood that this condition is quite complex, and there is no guarantee that everything will be performed during childhood.¹ There can be lifelong adjustments that have to be made. Continuous surgery will add strain onto the body, so the doctors will likely discuss operating through various stages in one's life to increase recovery and outcome.

Most of the surgeries carried out will be based on urgency, and also keeping in mind that the child develops differently to an adult, so some surgeries (bones and muscle surgeries mostly) will be performed when the child is a little older.

Rehabilitation

Immediate rehabilitation includes post-operative care and pain management. After surgery, they will be monitored for any changes and will be referred to physiotherapists and rehabilitation experts to improve recovery. The pain management team will adhere to the guidelines put in place by the hospital and provide adequate pain relief after surgery.¹⁰

Long-term rehabilitation includes physical therapy sessions for full functional recovery, speech and language therapists following skull and face surgery, and psychological support to overcome the psychosocial impacts that can revolve around this condition. They may also be asked to attend regular meetings with their eye or ear specialist in certain cases.

The challenge faced with Freeman-Sheldon syndrome is the broad number of presentations in this condition and the complexity associated with managing everything. However, with the advancement of science, there have been more developments made, and there are guaranteed better outcomes. People with FSS who have undergone a lot of changes during childhood grow to live very successful and wholesome lives. They will be supported by their family, friends, and medical team throughout and will not have to succumb to any shell.

FAQs

What is freeman-sheldon syndrome?

It is a condition that deters normal muscle and bone development in children. In a few complicated cases, some people also have multiple organ involvement, such as the eyes, ears, lungs, and stomach.

Is there a cure for freeman-sheldon syndrome?

There is no definite cure for the condition, however, it can be managed by a team of doctors. It can be treated surgically and non-surgically.

Do people with freeman-sheldon syndrome live long?

The lifespan of people with FSS after treatment is a normal average lifespan. There may be continuous treatment, however, it will not hinder their life expectancy.