Patterson-Stevenson-Fontaine Syndrome: Information About Rare Disease

Updated on April 28, 2023
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Fontaine Syndrome, also known as Hereditary Lymphedema Type III, is a rare genetic disorder that affects the lymphatic system. Despite being identified several decades ago, it remains a little-known condition that baffles medical experts.

The abnormal swelling of limbs characterizes this syndrome due to the accumulation of lymph fluid, which can lead to discomfort, pain, and decreased mobility. While there is no cure for Fontaine Syndrome, treatments are available to manage its symptoms and improve the quality of life for those affected by it.

What causes this syndrome?

Fontaine Syndrome is caused by a genetic mutation affecting the lymphatic system. This mutation can interfere with the body’s ability to regulate the flow of lymph fluid, leading to its accumulation in the limbs and other areas of the body. The inheritance pattern of this condition is typically autosomal dominant, meaning that a person only needs to inherit one copy of the mutated gene from a parent to develop the disease.

Symptoms of Fontaine Syndrome

1. Characteristic facial features

Fontaine Syndrome is characterized by various symptoms, including characteristic facial features that may be similar to those seen in hormonal diseases such as dwarfism caused by insufficient amounts of growth hormone or acromegaly caused by excess amounts of growth hormone. Dwarfism is a condition in which an individual is significantly shorter than average, typically caused by a growth hormone deficiency during childhood.

Acromegaly, on the other hand, is a condition that occurs due to excess growth hormone in adults and can cause the enlargement of the hands, feet, and facial features. If you are experiencing any of these symptoms, it is recommended that you consult with a doctor to determine the underlying cause and appropriate treatment options. For more detailed information, you can visit

2. Split-Foot Deformity

One of the main symptoms of Fontaine Syndrome is a split-foot deformity, which can affect one or both feet. This condition is characterized by splitting or dividing the foot into two or more sections, often resulting in a V-shaped cleft or fissure. The split-foot deformity can make it difficult for individuals to walk and can cause significant pain and discomfort.

Treatment options for this symptom may include physical therapy, bracing, or surgery, depending on the severity of the deformity. While split-foot deformity is a common symptom of Fontaine Syndrome, it is essential to note that not all individuals with this condition will experience this specific symptom, and symptoms may vary in severity between individuals.

3. Cleft Palate

A cleft palate is a congenital disability that occurs when the roof of the mouth does not fuse properly during fetal development. This results in a gap or opening in the top of the mouth that can extend into the nasal cavity. A cleft palate can affect a child’s eating, speaking, and hearing ability. Treatment typically involves surgery to close the aperture and may require multiple procedures over several years. Children with a cleft palate may also need speech therapy and other supportive therapies to address any associated developmental delays or difficulties.

4. External ears

This genetic disorder can affect the ears in various ways, such as a low-set or malformed ear or an absence of the external ear altogether. These abnormalities can result in hearing difficulties, such as conductive or sensorineural hearing loss.

Patients with this syndrome may require hearing aids or other assistive devices to manage their hearing loss. Additionally, some may need surgical interventions to correct any ear malformations or abnormalities. Given the wide range of possible ear-related symptoms in Fontaine Syndrome, a qualified medical professional must carefully monitor and treat.

5. Absence of the toes

This can occur unilaterally or bilaterally, and the severity can vary from partial to complete absence. This symptom can lead to mobility difficulties and balance issues, potentially impacting the affected individual’s quality of life.

Treatment options depend on the severity of the condition and the degree of functional impairment. In some cases, prosthetic toes or feet help improve mobility and balance. Additionally, physical therapy and rehabilitation can be beneficial in managing any associated movement or coordination issues.

6. syndactyly

This condition is characterized by the fusion of two or more digits, typically in the hands or feet. The severity of syndactyly can vary from partial fusion to complete fusion of all numbers. This symptom can lead to hand and foot function challenges, such as agility and grip strength.

Treatment options depend on the severity of the condition and may include surgical separation of the fused digits to improve function and mobility. Physical and occupational therapy may also be beneficial in managing any associated motor or functional impairments.

7. Hearing loss

This symptom can occur due to several factors, such as abnormalities in the ear canal or middle ear or nerve damage that affects hearing function. The degree and type of hearing loss can vary widely among affected individuals. Treatment options may include hearing aids or cochlear implants, depending on the severity and cause of the hearing loss.

Additionally, supportive therapies such as speech therapy and communication strategies may help patients manage any communication difficulties that may arise due to hearing loss.

Fontaine Syndrome is a rare genetic disorder that affects various aspects of an individual’s health, including their lymphatic system, facial features, and extremities. Treatment of the syndrome focuses on addressing the specific symptoms present in each person, such as hearing loss, cleft Palate, and limb abnormalities.

As this is a rare disorder, careful monitoring and individualized treatment plans are essential to improve the patient’s quality of life. Individuals with Fontaine Syndrome can lead fulfilling lives with appropriate medical care and supportive therapies.

The Editorial Team at Healthcare Business Today is made up of skilled healthcare writers and experts, led by our managing editor, Daniel Casciato, who has over 25 years of experience in healthcare writing. Since 1998, we have produced compelling and informative content for numerous publications, establishing ourselves as a trusted resource for health and wellness information. We offer readers access to fresh health, medicine, science, and technology developments and the latest in patient news, emphasizing how these developments affect our lives.