Overview

• De Barsy Syndrome is a rare genetic disorder named after Dr. Anne-Marie De Barsy, who first identified it¹
• About 50 cases have been found worldwide.The cause of this syndrome is unknown, but studies have discovered that it can be passed from parents to children, especially between close blood relatives²
• The diagnosis often occurs just after birth or in the early days or years of life.³ The key symptoms of this syndrome can vary greatly from person to person, but may frequently affect a person's skin, teeth, stature, vision, movements, or neurological function
• Primary care providers often don't have vast experience with rare diseases, causing patients difficulty finding experts, consulting multiple specialists and facing delays, but a knowledgeable care team can accelerate quality of care³
• De Barsy syndrome has no cure. Treatment is most beneficial when coordinated by a multidisciplinary team. Patients and their families often face unmet support needs, including psychological support, learning how to navigate the health system and long-term care, access to information and help with daily living skills. A multidisciplinary care approach can help by providing clearer and more accessible information about their condition and treatment at all stages, offering psychological support, facilitating access to experts and specialised treatments, and providing social support and societal acceptance to improve the overall quality of life for patients living with these complex conditions⁴

Multidisciplinary approach

Diagnosis of rare diseases such as this one, De Barsy syndrome, is difficult and diagnosis is often late with an average time of more than 6 years. Having a primary care provider (PCP) involved early on is crucial-they start the assessment process and refer to specialists. Care is coordinated in multidisciplinary centers or university hospitals that support this quicker diagnosis and support. In one example, an 8-month old boy with a presentation of seizures and developmental delay was referred for neurological, systemic and genetic workup. Genetic testing by a panel of experts such as neurologists and geneticists, among other specialists, proved the diagnosis of De Barsy syndrome. Genetic counselling plays a key role, helping families understand inheritance risks and make informed reproductive decisions. A more customized assembled team might also be required, based on the clinical complexity of each individual case.⁵

• Dermatology: Dermatologists are often the first doctors to suspect this condition, since patients frequently show skin problems such as changes in elasticity and differences in appearance. They also manage symptoms like skin fragility and work on preventing dermatological complications⁶
• Ophthalmology: In De Barsy syndrome, ophthalmological treatment is described in the management of visual impairments such as corneal clouding and cataracts⁷
• Paediatrics: Paediatricians also play an important role in monitoring childhood development. They watch for signs of developmental delay and refer children to early intervention services when needed

Clinical case: A group of scientists reported a case of a two‑day‑old baby girl who was referred to the paediatrics department with several concerns: very loose skin, a facial appearance that looked aged, short body length, cloudy corneas, and both hands shaped like claws with thin, overlapping fingers, along with other issues. The doctors confirmed De Barsy syndrome by analysing a tissue sample. After this, palliative care was recommended for the infant. This was an extremely rare clinical presentation of the syndrome, but it illustrates some of how the paediatric department can work in rare diseases, especially by coordinating therapeutic services and providing immediate support for the family.⁸

• Neurology: Neurological involvement in this condition can include challenges such as neurodevelopmental delay, severe intellectual disability, spasticity, and structural changes in the brain and spinal cord, as well as other complications. Neurological follow-up involves assessing brain abnormalities, managing motor and cognitive deficits, and providing the necessary support for rehabilitation⁹
• Orthopedics: As mentioned, De Barsy syndrome involves muscle and skeletal symptoms, which an orthopedist will carefully evaluate. The orthopedist plans and carries out treatments, both surgical and non‑surgical, to correct issues such as hip dysplasia (a condition where the hip joint does not develop properly), foot deformities, and scoliosis, among others. They also consider the loose skin, delayed bone growth, and functional limitations of the patient to stabilize joints, reduce deformities, and improve the patient’s ability to move⁹
• Genitourinary and gastroenterology: Although not very common in De Barsy Syndrome, in the scope of the gastrointestinal and urinary systems, the specialist’s role is to monitor and treat the anomalies presented, such as feeding difficulties, gastroesophageal reflux, and urinary tract problems like infections. For example, taking a real patient who had swallowing difficulties and reflux, placement of a percutaneous gastrostomy was necessary for nutritional supplementation, that is, a procedure where a tube is placed directly into the stomach, which allows the person to receive food, liquids, and medicines straight into the stomach without needing to swallow by mouth¹⁰
• Cardiologist: Cardiac anomalies are not common in this condition but may be present in some cases, so it is necessary to perform a cardiac risk assessment, regular heart monitoring of the patient, and, depending on the results, determine if specific interventions are required¹⁰
• Physiotherapists and occupational therapists: Physiotherapists may focus on improving coordination, development, proper body positioning with support, or mobility in De Barsy syndrome. Some patients also have mild breathing difficulties where the physiotherapist can work together with pulmonology. Occupational therapy uses a range of techniques to promote as much independence as possible, focusing on the person’s context, environment, support, potential, and what patients want or need to achieve; for a child with De Barsy syndrome, the occupational therapist may train independent living skills such as dressing with or without help, bathroom use, support for school children, home safety modifications, and parent training and guidance⁶
• Speech and Language Therapy: Due to developmental delay or muscle weakness (including speech muscles), these professionals can help support the patient’s communication development⁵
• Nutritional Guidance: Some patients may have feeding difficulties, such as trouble sucking or swallowing, and low levels of nutrients in the body that need to be supplemented. Therefore, nutrition professionals like nutritionists and dietitians may be part of the multidisciplinary team⁹
• Psychology: More than 90% of patients and caregivers of individuals with rare diseases report that their mental health is affected, experiencing anxiety, stress, and depression, as well as feelings of loneliness; combined with a lack of professional psychological support,¹⁷ these patients may feel helpless. Psychological and psychiatric services are essential in the lives of families
• Social work: A European organisation for rare diseases recommends that social services be involved for people facing rare diseases. Imagine you have just arrived at the healthcare system and learned that you will need long-term use of these services; questions like “Where do I go within this service? When and where should I seek help? What resources do I have access to? Who can help me in my community where I live?” are common. These are the kinds of issues that social services will address to support these patients both inside and outside healthcare settings

Summary

De Barsy Syndrome is a rare gene problem that can change how a person lives in many ways. While there is no cure, the condition is managed by identifying symptoms as early as possible, allowing a multidisciplinary team of healthcare professionals to intervene. This approach focuses on symptom management and complication prevention, helping patients and their families navigate the health system and improve their overall quality of life. The specific professionals involved will depend on the patient's individual needs.

FAQs

What are multidisciplinary care centres?

Multidisciplinary care centres are typically teaching, university, or research hospitals where teams of medical experts and specialists collaborate in the same location. These teams sometimes include experts in rare diseases.

How does a multidisciplinary team coordinate care?

Some possible ways a team can manage a patient's care include: holding regular case conferences to review patient progress, update treatment plans, coordinate care delivery among providers for better communication; They create personalised care plans with both short- and long-term goals covering medical, developmental, psychosocial and social support. They can also support the transition from pediatric to adult care or changes in educational settings. Families are offered condition-specific education, access to support groups, and connections with other families affected by De Barsy syndrome.