Filippi syndrome is a rare genetic disorder that can have a huge impact on a person. Understanding the ways we can manage and treat Filippi syndrome can lead to a life-changing improvement in the quality of life. This article aims to provide an outline of strategies used to manage and treat this condition.

Introduction

Filippi syndrome is a rare disorder that is present from birth and has been found to affect females and males equally. It was first described in 1985 by G. Filippi, and since then, approximately 20 cases have been documented in medical literature. Therefore, due to its rare nature, the condition is quite unfamiliar.¹ However, many symptoms associated with the condition have been documented, examples of these are:

• Abnormal facial appearance
• Defects in fingers and toes (also called syndactyly), such as short fingers, webbing or fusion, or fifth fingers (pinkies) that are crooked
• Mental retardation, ranging from mild to severe, affecting speech
• Developmental delays
• Webbing or fusion of fingers and toes
• Low birth weight
• Microcephaly¹
• Other less common symptoms may include unusual hair patterns and seizures

Filippi syndrome is an autosomal recessive disorder, which means that both parents must be carriers of the mutated (change in DNA) gene for it to be present in the child. In the case of autosomal recessive diseases, carriers of this mutated gene are unaffected and do not present the clinical features of the condition. Therefore, if only one of the parents is a carrier, then the child will not present symptoms and remain unaffected. Unaffected parents who are carriers of the mutated gene can pass it to their children.² Filippi syndrome is sometimes grouped into similar disorders, these are called craniodigital syndromes, which share the abnormalities in the head, fingers and toes.¹

Diagnosis of filippi syndrome

As Filippi syndrome is rare, diagnosing the disease may be harder than expected. However, some similar disorders exist that help separate Filippi syndrome from others, supporting its diagnosis. For example, KGB syndrome is a rare genetic disorder that shares symptoms with Filippi syndrome, such as speech delays, mental retardation and head and facial abnormalities. KGB syndrome patients also have webbing or fusion of fingers and toes, however, it is an autosomal dominant disease and presents other symptoms like “bow-shaped” lips, large teeth and protruding ears. Another rare genetic disease is Scott craniodigital syndrome, also presenting Fillipi syndrome-like symptoms as webbed fingers and toes and abnormal facial features. Other symptoms that differentiate from Filippi syndrome are different skin ridge patterns, unusually thick scalp hair and a small lower jaw. Lastly, Blepharonasofacial syndrome also involves patients with webbed fingers and toes, however, their eyelids have unusual folds, a ‘bulky’ nose, and loose joints.¹

Due to the similarities in these diseases, it can make diagnosing Filippi syndrome more challenging. Therefore, it is important to understand the different congenital disorders, as well as Filippi syndrome, as it would lead to faster diagnosis and will minimise the risk of misdiagnosing a patient.¹

Genetic testing

Genetic testing, sometimes called genomic testing, can be performed to diagnose genetic conditions, such as Filippi syndrome. It involves taking a sample of your blood or saliva, or for pregnant women, their amniotic fluid. Samples are then analysed to see if there are changes in the DNA that are associated with Filippi syndrome.³ Compared with diagnosing by analysing characteristic symptoms, genetic testing is a reliable and accurate method as it provides a definitive diagnosis.

Management and treatment strategies for filippi syndrome

Treatment of Filippi syndrome is focused on the specific symptoms each patient has, as this could vary with each individual. To achieve the best quality of life possible for patients, treatment strategies begin early in life, patients are also monitored to study the disease progression. These treatment interventions involve a team of diverse professionals who come together to plan an individual’s treatment. There is no cure or one way of treatment for Filippi syndrome, however, these medical professionals ensure that each patient can manage their symptoms well.¹

Surgical interventions

Syndactyly is a common symptom in Filippi syndrome patients, which means ‘joint digits’. It involves the webbing of fingers and toes, these digits may be joined at the skin or their bones could be fused. Surgical interventions exist to separate these digits, which could improve the function and the appearance of their hands. This is generally performed on children. In most cases, the procedure is simple and has a very low risk of infection and nerve injury.⁴

Depending on their symptoms, other surgical procedures are available to Filippi syndrome patients. Medical professionals will analyse the patients and decide whether they need surgery to improve joint problems or other physical issues.

Medications to control symptoms

Several types of medication may be prescribed to patients; this is highly dependent on the individual and what they are experiencing. The most common medications prescribed are pain and anti-seizure medications. However, antispasticity agents may be prescribed as a way to treat involuntary jerks and relax the muscles.⁵ To reduce drooling in children with developmental delay, which is a common Filippi syndrome symptom, doctors may prescribe anticholinergic medication.⁶ All medication options aim to improve the comfort and quality of life of patients.

Supportive therapies

Care plans provided by teams of professionals include support and therapies for both the patients and their families. This offers personalised support and ensures children with Filippi syndrome are managing the challenges associated with the disease well. Such therapies include occupational therapy, physical therapy, speech therapy, family counselling, genetic counselling and special education.¹

Occupational and physical therapy

Occupational therapy helps children with Filippi syndrome with their day-to-day tasks, enhancing their independence. It is a personalised approach that focuses on what the individual may need help with, such as dressing, feeding, bathing, writing and playing. This also enables them to integrate well with peers in school and allows their relatives to focus on other aspects of the disease.⁸  

Similar to occupational therapy, physical therapy also aims to ensure patients can be as independent as possible. Therapists may start by assessing the patient’s motor skills to see how they compare to others in their age range, measuring strength, movement and how they walk/run. They then provide ways to decrease physical pain and provide education on exercises to improve strength and coordination.⁹

Speech therapy

Sometimes children with developmental delay, caused by Filippi syndrome, suffer from speech delay and/or problems with feeding and swallowing. Therapy must start early, preferably before the patient turns 5, for a positive outcome. Speech therapy may involve oral exercises, such as tongue and jaw exercises, to strengthen muscles. It may also involve introducing foods at different temperatures and textures to increase awareness during times of eating.¹⁰

Genetic and family counselling

Genetic counsellors can provide information about Filippi syndrome as it is a genetic condition; they can let parents know about the way it is inherited and what that may mean for future children. They can also offer emotional support, which is important since there are many challenges associated with Filippi syndrome. Genetic counselling allows parents to ask questions and gain education about genetic diseases, allowing them to be able to make informed decisions.⁷

Both the patient and family will be offered psychological support, which is important to reduce stress, maintain a positive outlook, relieve worries and cope well with challenges associated with Filippi syndrome.

Summary

Filippi syndrome is an extremely rare disease caused by a change or mutation in the DNA. It is a complex condition that has an array of associated symptoms, such as developmental delay, webbed fingers/toes, abnormal facial features, mental retardation and in some cases seizures. Patients are usually young and diagnosed from birth. Doctors diagnose Filippi syndrome by analysing symptoms, however, Filippi syndrome shares symptoms with other similar genetic disorders, therefore, a more reliable method is through genetic testing. Those who are pregnant may also perform genetic testing to get a diagnosis before the baby is born.

Unfortunately, there is no cure for Filippi syndrome, however, different healthcare professionals, e.g. doctors and therapists, come together to plan and provide treatment plans for each individual. This is because each person’s symptoms are unique and therefore would need treatment plans that address specific challenges faced. Treatments such as surgery to separate webbed fingers/toes and medication to manage pain or decrease symptoms like seizures and muscle stiffness may be needed. Patients are also provided with a range of therapies that offer emotional and physical support, which provides both the patients and their relatives the support they need to cope with the condition. These strategies ensure that patients with Filippi syndrome have a better quality of life, integrate into society well, and are as independent as possible.