Introduction

Carpenter syndrome (CS) is a rare inherited genetic disorder. The main symptom that appears is craniosynostosis, which is a deformity that happens when the skull bones join too early, before the baby’s brain is fully developed. It can also cause deformities in other areas, such as:

• Fingers
• Toes
• Heart defects
• Hearing loss 
• Intellectual disabilities¹

Utilising Early intervention approaches plays a big role in supporting individuals with diagnosed conditions and developmental delays caused by syndromes such as Carpenter Syndrome. Its focus on supporting challenges within the four main key aspects of child development, physical, cognitive, behavioural and social and emotional development, will improve and provide benefits to an individual’s quality of life.²

This article will dive into different types of delays in development that appear in Carpenter Syndrome, as well as introduce various early intervention approaches, including surgical and educational treatments, that can help children and young people with  CS experience an enhanced quality of life.

Understanding Carpenter Syndrome

CS is known as an autosomal recessive disorder (ARD), and it is related to either of two genes, RAB23 or MEGF8. As it is an ARD, for someone to have CS, they must inherit two copies of either the RAB23 or the MEGF8 gene, one from each parent. It is important to note that a child’s parents do not have to have the disorder itself, but carrying a copy of the mutated gene is enough to pass it on by 25%.¹

CS has various clinical features. One clinical feature is typically Craniosynostosis, which prevents the skull from growing normally, resulting in the head forming a pointed look (acrocephaly). When the skull bones fuse too early, this can affect brain development and can lead to increased pressure within the brain cavity, which is called intracranial pressure.³

Other key clinical features include: obesity that usually begins during childhood, an umbilical hernia, which is a soft out-pouch around the belly-button, hearing loss and heart defects. Additionally, there can be skeletal abnormalities such as deformed hips, a rounded upper back that curves to the side (kyphoscoliosis) and knees that are angled inward (genu valgum).³

Carpenter syndrome is confirmed to be extremely rare, with only 70 cases in medical literature and a prevalence of around 1 in a million births.^1,4 As to diagnosis methods, they are not commonly required as children with Carpenter syndrome have a distinct and recognisable appearance. However, X-rays, CT or MRI may be needed to monitor bone growth before, during and after treatment.⁵

Developmental Delays in Carpenter Syndrome

Typically, a large number of children with Carpenter syndrome have learning disabilities or developmental delay. This varies from mild to severe. However, the severity of learning disabilities is not determined by the severity of the skull suture fusion.⁵

As Craniosynostosis occurs in CS and causes increased intracranial pressure, it can result in limiting the brain’s growth and cause damage to the brain tissue, as well as impairments in verbal short term memory and speech and language impairments.^6,7

Other physical abnormalities are an underdeveloped upper or lower jaw, which may cause chewing and eating problems, abnormal speech and possibilities of early teeth loss in childhood.^8,9  

Syndactyly, a limb deformity of toes or fingers fused, creating a webbed look, and polydactyly, when a baby is born with one or more extra fingers, can have a negative impact on how a child uses their motor skills throughout their lives. This includes how they use their hands and feet in daily activities, limitations in exercises, sports and basic self-care.^10,11

Another complication is hearing and vision loss, which may affect quality of life, such as not meeting common milestones in physical, emotional and social functioning.¹²

This is why it is crucial to identify indications during early diagnosis and intervention because it can lead to better outcomes. This includes:

• Improved cognitive and physical development 
• Correct prognosis
• Better long-term care^13,28

Early Intervention Strategies 

Medical and Surgical Interventions

There are surgical and medical interventions that a person can undergo for CS. One common intervention focuses on fixing the deformed shape of the skull. The surgical treatment of craniosynostosis is often only available for kids between 6 and 12 months. This is because the bones are still very soft and easy to work with. Surgery is performed through a scalp incision; the Craniofacial surgeon works with a Paediatric neurosurgeon to safely remove the bones of the skull. The craniofacial surgeon will then reshape and reposition the bones to give the skull a normal and larger shape, which will improve the appearance and provide more space for the brain to develop.^14,15,16

For Polysyndactyly, the most common treatment is removing the extra finger. This treatment is available when a child is between the ages of 1 and 2 years. The extra digit is clipped or tied where it joins the hand. This makes the digit dry up and fall off over 14 days. However, if your child’s finger is fully developed, surgery would be preferred  to remove the extra finger.¹⁶

Syndactyly is treated only by surgery and under general anaesthesia. The operation involves a surgeon, who will remove the web and reshape it with local flaps of skin from between the digits. During surgery, it is only possible to separate each digit by one side of a finger at a time, because if there is damage to the blood supply on both sides, it can result in loss of the finger. If more than one digit is affected, it is highly recommended to have more than one operation.¹⁷

For obesity, maintaining a balanced diet and engaging in regular physical activity can help lose weight and improve overall health.¹³ Additionally, some children may require hearing aids, glasses or other support devices to treat vision and hearing.²⁰

Therapeutic Interventions

Physical Therapy (PT)

Carpenter syndrome has other associated deformities, such as an extra digit/s (Polysyndactyly) and/or webbed hands and feet (Syndactyly), which can affect a child’s gross and fine motor skills.

To improve fine motor skills, PT may utilise exercises like:

• Squeezing stress balls
• Picking up objects
• Playing with puzzles and playdough¹⁹

For gross motor skills:

• Standing on one leg
• Navigating obstacle courses
• Chasing and popping bubbles
• Jumping on one foot.

PT also helps children learn to dress and perform other self-care tasks.¹⁹

Occupational Therapy (OT)

Similarly, OT can also help with motor skills post-operation, which includes children with syndactyly. OT helps the child in mobilising their fingers separately and gaining strength in each digit. OT can also develop strength and mobility in the case of polydactyly.²⁰

Speech and Language Therapy (SLT)

CS can lead to underdevelopment in the upper or lower jaw, which may cause chewing and eating problems and abnormal speech.^8,9 SLTs provide support and treatment to those who have difficulties with communication, eating, and drinking. They will work directly with children and their families to assess and provide tailored treatment.^21,22

Methods that they may use are:

• Articulation therapy
• Language intervention
• Fluency shaping techniques
• Voice therapy

Developmental and Educational Support

Children and young people with Carpenter Syndrome more often than not have learning disabilities. This means that most will benefit from support in education.⁵

Children who live with Special Education needs (SEN) are eligible to be given school support. Parents are encouraged to communicate with the teacher or SEN coordinator about what specifically they think their child needs. This includes:

• A special learning programme
• Extra help from a teacher
• To work in smaller groups
• Support with physical or personal care difficulties²³

Parents and families play a role in engaging in patient-centred care, selecting goals and carrying out a home programme. Parents will be given training that provides knowledge and skills to encourage and support their child’s journey of exploration and engagement with motor skills. Extended family members are also encouraged to participate in therapy sessions, as this will help enhance family knowledge and promote wellbeing.²⁴

Importance of Multidisciplinary Care and Early Diagnosis

Coordination in care is when a team of healthcare professionals organise patient-centred care and shares important information to achieve comprehensive and effective care for a child.²⁵ An example of a healthcare professional who would participate would be a Genetic counsellor. They use counselling techniques to help individuals adjust to having a genetic condition, such as Carpenter Syndrome. They also provide family support, which includes helping parents feel supported and empowered at different stages of adjusting to genetic conditions.²⁶

Challenges and Considerations

According to studies, it states that with rare genetic disorders like Carpenter Syndrome, there are many challenges that are commonly experienced. Such as:

• Lack of knowledge in the healthcare system
• Lack of coordinated care
• Lack of experts on their child’s disorders²⁷

As a result, parents may experience having to be an expert on their child’s rare disorder and act as an advocate for them. This may psychologically impact parents, as studies show that many parents feel isolated and alone, experiencing some sort of change in their social life. Especially parents who work full time alongside supporting their child.²⁷

Summary

To summarise, it is vital to incorporate early intervention and a multidisciplinary approach with those who have a rare condition, such as Carpenter Syndrome, living with developmental delays. This is because it can lead to better outcomes, such as being presented with the most correct prognosis, better long-term care and improvement in cognitive and physical development.^13,25,28 Although some people may have access to treatments for Carpenter Syndrome, it is still a rare and complex condition. This means there is still a lack of knowledge surrounding the condition within the healthcare system, a lack of specialised care available and a lack of experts.²⁷ It is important that there is a push towards increased public awareness, improved management strategies and increased development in support systems, not only for patients but also for parents and those who need support.