Imagine meeting a baby with small eyes, ears, and a nose, but a big forehead. At first glance, her skin is loose and full of wrinkles. Her hair is sparse and brittle, her eyes are very close to each other, and her cornea is clouded and blue. Her thumbs curve inwards. As time goes on, she finds it hard to grow. By 10 months, she still can’t sit by herself, walk, or talk.

The symptoms described were based on real clinical cases documented in the medical literature.^5,6 The condition in question is a rare genetic disorder known as De Barsy syndrome.

What is de barsy syndrome?

In 1967, Dr Anne-Marie De Barsy wrote a report about a 15-month-old girl with unusual physical traits and other symptoms. This condition became known as De Barsy syndrome, and is a rare genetic disorder.¹ De Barsy syndrome is also known as Barsy-Moens-Diercks syndrome, cutis laxa-growth deficit syndrome, and progeroid syndrome of de Barsy.⁴ 

According to the National Organisation for Rare Disorders (NORD), only about 50 cases have been reported worldwide.⁴ The syndrome occurs equally across all ethnic groups.^1,4  Little is known about the life expectancy of De Barsy Syndrome patients. Some live into adulthood, but studies suggest a high risk of death during childhood.⁴

What causes de barsy syndrome?

The cause of De Barsy syndrome is unclear. However, it is known that it can be inherited (e.g., passed down in families). Some studies suggest that marriage between close blood relatives might play a part.^1,3,5,6

De barsy 

Specialists group De Barsy syndrome within a family of diseases called cutis laxa. The syndrome belongs to a specific branch called autosomal recessive cutis laxa type III. 

Recent genetic research has also identified two main subtypes of De Barsy syndrome: ALDH18A1-related cutis laxa (type 3A) and PYCR1-related cutis laxa (type 3B). These classifications are based on the specific gene mutations found in patients.^1,4

Cutis laxa represents a group of rare inherited disorders. The autosomal recessive form is the most common type, though other types may be acquired during life or in association with other disorders.⁷ Due to the autosomal recessive nature of De Barsy syndrome, both parents must carry the gene for a child to be affected (Figure 1). 

The main sign of De Barsy syndrome involves the skin's appearance. The skin becomes loose, wrinkled, sagging and lacks normal elasticity. When stretched, it returns to its original position much more slowly than normal skin.⁴

What are the symptoms of de barsy syndrome?

The symptoms of De Barsy syndrome may vary from person to person. Many share signs like a prematurely aged appearance (known as progeroid characteristics), eye problems, issues with moving, and troubles in learning.^1-6 Other key symptoms include:

• Progeroid features
• Facial dysmorphism
• Loose, saggy skin that lacks elasticity
• Eye abnormalities (e.g., corneal clouding, ophthalmic opacification and cataracts)
• Sparse hair
• Easy bruising
• Growth delays before and after birth 
• Microcephaly
• Skeletal malformations
• Osteopenia
• Wormian bones
• Large fontanelles with delayed closure
• Inguinal hernias
• Intellectual disability and learning challenges
• Global developmental delays
• Hypotonia
• Athetoid movements
• Hyperreflexia

These symptoms can significantly affect a child's mobility, daily activities, and overall quality of life. Some patients also experience mild breathing difficulties.² As children with De Barsy syndrome grow older, they may develop seizures and slow, uncontrolled movements in their arms, legs, hands, and feet.⁴

How de barsy syndrome is managed: the role of physical and occupational therapists

There is no cure for De Barsy Syndrome. As a result, healthcare providers focus on addressing each symptom with careful consideration of how it affects both the child and their family. Surgery can help manage the symptoms of the disease, while medications and supplements may help when metabolic complications are present. Mental health support is also offered to the family of the impaired child.⁴ 

De Barsy syndrome is typically diagnosed in infancy or within the first few years of life. Early intervention helps prevent further complications and maximises the child's quality of life. Physical and occupational therapists are healthcare professionals trained to work with a range of disorders across all age groups. They are equipped to improve the overall quality of life and patient involvement in real-life activities, supporting both the child and their family throughout their lives. 

In a study conducted by the Sapienza University of Rome, paediatric physical therapists developed a rehabilitation protocol specifically for children with De Barsy syndrome.² Their goals included improving attention, coordination, language development, proper body positioning, and mobility. The six-month program involved sessions three times per week, lasting 30 to 60 minutes each. At the end of the study, they saw improvements in the postural system and mobility with assistive devices (walkers, special braces, wheelchairs and other equipment).

Physical therapists evaluate several areas, including:

• Muscle and joint function
• Range of motion and strength needed for activities
• Pain levels
• Equipment needs

Based on their assessment, interventions may include, but are not restricted to:

• Strengthening programs and exercises
• Positioning strategies
• Respiratory therapy when needed

Occupational therapy uses therapeutic activities of daily living to promote health, well-being, and patient participation.⁸ "Occupations" refers to everything a person does throughout their day or how they spend their time, including:⁸

• Self-care (e.g., eating, dressing, personal hygiene)
• Rest and sleep
• Education
• Play (for children)
• Leisure activities
• Community and social participation

Occupational therapy uses a range of techniques to promote independence for patients with rare disorders, focusing on context, environment, support, potential, and what patients want or need to achieve. For a child with De Barsy syndrome, the therapeutic plan may include:

• Training for independent dressing or dressing with assistance
• Bathroom use skills
• Developing hand skills needed to hold a pencil for school writing  
• Home modifications for safety
• Parent training and guidance 

For children with De Barsy syndrome, seeking paediatric specialists can help families better understand developmental delays, determine realistic goals, and develop transition plans from childhood to adolescence. There is no limit on how long the child should stay in therapy; this is a topic discussed with the family, considering their needs. Multidisciplinary teamwork, when possible, provides greater benefit to the child. 

Summary

De Barsy syndrome is a rare genetic condition that can deeply affect a patient's well-being and quality of life. While there is currently no cure, genetic research is helping medical professionals better understand the underlying mechanisms of the disease. Despite this, many questions remain unanswered, especially on how to manage and approach the symptoms of De Barsy syndrome.

Healthcare professionals – including physical and occupational therapists – are well-prepared to provide specialised care and support to patients with rare diseases. When these professionals work together, they can assist both the child and their family with the skills and abilities needed for them to grow.