Overview

A rare condition called  De Barsy Syndrome (DBS) has been thought to affect new born babies since the early years of 1967. It arises from an early-stage hereditary disorder passed down unknowingly from the parents, whose symptoms weren’t previously visible (Autosomal Recessive Inheritance). Thereby, families often describe their feelings after diagnosis with a mix of shock, grief, and loss.¹

De Barsy Syndrome is classified as genetic disorder that causes young patients to present an aged appearance, connective tissue development, mobility, as well as neurological impairments.² Treatment for DBS focuses primarily on managing and navigating the disorder, rather than curing, to help bring comfort and enhanced quality of life to the affected. 

This article is designed to provide a clear understanding of the clinical observations first described in the onset of DBS and the emotional and medical support available to bring clarity and confidence to the families affected. 

Common Features of De Barsy Syndrome

The most prominent feature of DBS is the alteration of connective tissue, caused by the responsible genes PYCR1 or ALDH18A1, which affect the development and repair system. The syndrome is extremely rare with only a small number of cases reported worldwide, for example, it is estimated that DBS affects fewer than 1,000 individuals in the US.³ The Genetic and Rare Diseases Information Centre (GARD) states that it can take up to six years to achieve accurate diagnosis, therefore it is important to recognise the following symptoms as early as possible to raise and consult with your healthcare provider and doctor. 

Common features include:

• Appearance: loose or inelastic skin (cutis laxa) and aged facial features (progeroid syndrome)
• Neurological impairment: presence of athetoid movements (involuntary muscle spasms), posture deficits (scoliosis), mental retardation, and joint development delays
• Visual problems: cloudiness of the inner eye, cataracts, and other eye impairments that can affect sight
• Muscle and growth impairments: dwarfism, hip dysplasia, loose joints, and coordination difficulties⁴

The combination of these symptoms vary from child to child, and therefore not all therapeutic approaches may fit to suit an all-fits-one approach. Some may require more supervised medical approaches, and some may have more milder symptoms that require less critical management. Therefore, recognising symptoms at an early-stage and consulting them, can help achieve a more personalised multidisciplinary approach. 

Therapeutic Strategies: Medical and Clinical Care

The above highlights how vital a co-ordinated team of care is. In this approach, every professional, whether a surgeon, neurologist or psychologist, plays a role that is a competent approach and strengthens the child’s wellbeing to enable them to thrive in everyday life. 

Neurological Support

Seizure Management 

If your child is experiencing seizures, a neurologist may recommend the use of antiepileptic medications. These can help reduce the frequency and severity, although it may require a longer trial to adjust the dose and type.⁵ Therefore, it is important to understand how to recognise the early symptoms and how to quickly intervene when the seizure begins to occur, this can be found on medical leaflets such as the NHS website. 

Motor Development

Physical and occupational therapy play an important role in supporting mobility and co-ordination. This therapy can help ease symptoms including hip dysplasia and provide stability for loose joints. Simple regular movement and exercises can come in great practice to strengthen muscles and create a future independence on well-being routines. 

Eye and Vision Care

Due to the rarity of the disease, there are no personalised treatment options. However, on occurrences of ocular impairments, such as cataracts and corneal clouding, they should be treated as early as possible.

• Regular eye screening and checks help detect early-stage visual problems
• Surgical treatment may be necessary for individuals if they have progressive cataract abnormalities and if vision is severely affected⁶
• Vision aids including glasses can help children make sight more clear and allow them to engage in activities, which may improve their satisfaction and confidence

Skin and Connective Tissue Care

For management for those suffering with loose and fragile skin (cutis laxa), it is vital that the skin is protected and moisturised daily. 

• Daily moisturising with topical treatments including vitamin A derivatives help improve skin texture and firmness
• Vitamin C and collagen supplements are powerful essentials to further contribute to re-activating the collagen synthesis, which is responsible for maintaining the skin’s strength and elasticity
• Inflammation medications including methotrexate or azathioprine can help autoimmune disorders and slow the progression of inflammation as well as rebuilding elastic fibres. However, these are mostly used in severe cases and should be consulted with a doctor first⁷

Musculoskeletal Support 

Loose joints and scoliosis can impact movement and stability.

• Early orthopedic interventions may include casting or bracing to correct hip or foot alignment and rotation in infants (~11 months)
• Physiotherapy is important for strengthening muscles, improving posture, and maintaining coordination
• Orthotic devices, such as supportive footwear, splints, or braces, can provide stability and reduce the risk of dislocations
• Surgical options may be considered in severe cases, for example tendon lengthening, joint stabilisation, or correction of complex foot deformities
• Long-term rehabilitation, including gait training and mobility aids, helps children develop functional independence⁴

Supportive Care: Holistic and Family-Centred Approaches

Multidisciplinary Care Teams

A care team might include:

• Pediatricians - medical doctors specialising in the health of infants. They support their treatment plans and monitor growth and development
• Neurologists - evaluate and manage the neurological symptoms, such as intellectual disability and neurological movement disorders
• Geneticists - confirm the genetic testing of the PYCR1 or ALDH18A1 gene mutations and provide genetic counselling
• Ophthalmologist - address the characteristics of corneal clouding and cataract early-stage development in individuals with DBS
• Physiotherapists - aid in promoting stability and smooth rotation of the joints, and strengthening of muscles
• Dermatologists - evaluate the loose and inelastic skin progressions, may help with prescribing medications or topical retinoids to promote firmness and rebuilding the collagen³

Having a coordinated team ensures that personalised care is available and helps increase awareness about how treatments in one area might influence other parts of the body. Since DBS is not well understood, every new piece of information is essential for guiding future research and developing new therapies.

Psychosocial and Emotional support 

A diagnosis of De Barsy Syndrome affects the whole family. Parents often describe feelings of devastation and loss for the life they had expected. However, support can come in many forms and not just for the child. Patient organisations help connect families and the public together, building awareness as well as offering online and in-person counselling meetings to help provide resourceful support. Some available include: EveryLife Foundation for Rare Diseases, Children’s Skin Disease Foundation, and National Organisation for Rare Diseases.

Peer support groups can be organised via social media networks or guided from counselling therapies within hospitals. It helps build coping strategies and offers new advice from families who share experiences, tips, and encouragement. 

Frequently Asked Questions (FAQs)

What is De Barsy Syndrome?

De Barsy Syndrome (DBS) is a very rare genetic condition caused by mutations in the PYCR1 or ALDH18A1 gene, it is inherited. It affects the connective tissue, skin, vision, growth, and neurological development. Children may present with loose skin (cutis laxa), an aged appearance, stability difficulties, or eye defects. 

Is De Barsy Syndrome curable?

Currently, there is no cure for DBS. Healthcare providers therefore focus treatment on managing symptoms to provide comfort and support development. Many of those require a coordinated care team for children to improve their quality of life. 

What kind of specialists are involved?

Children with DBS benefit from a multidisciplinary team that may include pediatricians, neurologists, ophthalmologists, dermatologists, genetic counsellors etc depending on their needs. This team approach ensures that care is well coordinated and adapted to each child’s needs. 

Summary

De Barsy Syndrome (DBS) is a genetic condition that is very rare. It affects the connective tissue, skin, vision, growth and development, and may cause neurological impairments. First found in 1967, it is caused by inherited mutations in the PYCR1 or ALDH18A1 genes. Symptoms can vary widely between children due it being in chance with the asymptomatic parents inheritance, but most frequently described symptoms include loose skin, an aged facial appearance, joint instability, development delays, and vision problems. 

Treatment focuses on managing symptoms, providing comfort, and supporting development. This involves a multidisciplinary team consisting of neurologists, ophthalmologists, dermatologists, physiotherapists. Care may include therapies for understanding the severity of the condition and base the further movement, vision, and skin support.

Families should also take advantage of the emotional and social support there is available. Through patient organisations, coordinated care teams, and community networks, children with DBS can experience a better quality of life and families can feel more understood and advised.