Introduction

Cerebrocostomandibular syndrome (CCMS) is a condition that affects fewer than 1,000 people in the US, making it incredibly rare and widely misunderstood, with limited information available for those affected. A multidisciplinary team is necessary to provide appropriate and well-rounded support. Read on to learn more about the professionals who can provide essential care for those with CCMS.

Cerebrocostomandibular syndrome (CCMS) may begin to present during pregnancy or in the newborn period. It is characterised by severe micrognathia (abnormally small jaw), abnormalities of the roof of the mouth, and rib defects. CCMS has been reported to be genetically inherited, although most cases appear to arise randomly. Fewer than 1,000 people in the US are affected by this condition, confirming its rarity.¹

Multidisciplinary care is essential for individuals with CCMS, as multiple body systems are affected. The goal of this multidisciplinary team is to improve survival rates through necessary treatments and interventions, thereby improving quality of life.

Key Challenges in CCMS Management

Individuals with CCMS present with multiple symptoms and physical challenges. These include tracheomalacia, which is characterised by weak cartilage within the trachea, resulting in airway collapse, obstruction, and difficulty breathing.² As a result, individuals with CCMS require professional care to aid breathing and reduce respiratory difficulties.

Other symptoms include cleft palate, a developmental defect in which the roof of the mouth fails to close, and micrognathia, an abnormally small jaw. Both of these defects can cause feeding difficulties, as the abnormal shape of the jaw and throat makes it difficult for individuals to suck, chew, or swallow. This can result in nutritional problems due to the inability to consume adequate food and nutrients.

The ears of individuals with CCMS can also be affected by atresia of the external auditory canal, which is the failure of the external auditory canal to develop. Additionally, abnormalities in vibrations within the inner ear canal can affect sound perception. Both of these conditions can impair speech and hearing, causing difficulties due to sound distortion.

Individuals with CCMS may also have a bell-shaped thorax, in which the upper section of the rib cage is constricted, and a posterior rib gap, which can lead to further chest complications. These features result in physical restrictions due to the abnormal shape of the upper body.

Intellectual disability is common in people with CCMS and is characterised by an IQ score below 70.¹

Core Members of the Multidisciplinary Team

Neonatology and Paediatrics

A paediatrician is a practitioner who specialises in the care of children and can support infants and children with CCMS. A paediatrician can monitor a child with CCMS, ensuring that they are stabilised from birth and provided with appropriate care and treatment. They can monitor growth and work collaboratively with other professionals to create an ongoing care plan.¹

Pulmonology

Pulmonologists specialise in assessing lung abnormalities, which is essential for individuals with CCMS who experience respiratory obstructions and breathing difficulties. These specialists can work to improve airway restrictions and can also provide treatments for sleep apnoea, which is characterised by difficulty breathing during sleep.¹

Craniofacial and Plastic Surgery

Plastic surgeons may be involved in the multidisciplinary team for individuals with CCMS, as jaw reconstruction may be necessary to address the difficulties associated with the condition. As CCMS causes an abnormally small jaw that can result in feeding and speech difficulties, reconstructing the jaw may improve these issues and provide relief for the individual.¹

Orthopaedics

Orthopaedic specialists focus on the musculoskeletal system, which involves muscles and bones. Individuals with CCMS have rib cage abnormalities that may require monitoring. These professionals can provide appropriate support and treatment in coordination with other healthcare professionals to ensure the best possible quality of life for the individual with CCMS.¹

Speech and Language Therapy and Audiology

Audiologists and speech and language therapists specialise in hearing and speech, and individuals with CCMS require this professional support as they may experience hearing difficulties and speech restrictions. These professionals can provide therapy to help improve the development of individuals with CCMS, which may additionally aid feeding by helping to strengthen the oral and facial muscles.¹

Audiologists may regularly monitor individuals' hearing to record any improvements or to adjust treatment as needed.

Nutrition and Dietetics

A nutritionist or dietitian may be required to create a feeding plan tailored to the specific needs of the individual with CCMS, such as swallowing difficulties. This plan can help to ensure stress-free mealtimes so that adequate nutrients are consumed and optimal growth and development can be achieved.

Genetics

A genetics specialist may be a key member of the multidisciplinary support team for those with CCMS. As the syndrome may be genetically inherited,¹ these specialists can provide a diagnosis as well as counselling and family support plans to allow for appropriate management, ongoing assessments, and the necessary support for individuals with CCMS and their families.

Psychology and Social Work

Social workers and psychologists may monitor the emotional development of the individual to ensure they are properly supported and cared for. CCMS can cause significant stress and distress due to the life-altering physical and intellectual challenges it presents. Appropriate resources can be provided to families, and community support groups may be recommended to offer emotional support and guidance.

Coordinating Care Across Settings

Care for individuals with CCMS can be provided across multiple settings, including hospitals, schools, and the home. Hospital-based care can provide initial management, including appropriate diagnosis and surgeries to address the physical abnormalities associated with CCMS. Outpatient care can monitor long-term growth and development and maintain an appropriate care plan for optimal support.

When hospital care is not required, support can be provided at home or at school. Families can be educated and trained to assist in the care of their loved one, who may require respiratory support or feeding assistance in these settings. Within schools, an individual education plan should be created to allow for maximum support and the best educational opportunities, thereby promoting intellectual development.

Strategies for Effective Multidisciplinary Coordination

Several strategies can facilitate effective coordination within a multidisciplinary team. Regular meetings can be held to ensure all team members remain up to date with care plans. Each member of the multidisciplinary team should have access to electronic health records and care plans so that they are informed of any changes. Parents and guardians should be included in developing the care plan to ensure a family-centred approach that is inclusive and effective for the individual with CCMS. Plans should be updated as the individual grows and transitions from childhood to adulthood, as their needs will change and more appropriate treatments will be required.

Outcomes of Well-Coordinated Care

Well-coordinated care can result in an improved quality of life for individuals with CCMS. Appropriate support and treatment can enable developmental milestones to be met and allow individuals to progress and be supported throughout their lives, despite the physical and intellectual challenges associated with the condition. Well-coordinated care also ensures that families receive the necessary training and guidance to support their loved one. Additionally, this support can contribute to a prolonged life through adequate and timely treatment and care.

Summary

CCMS is a rare condition that can present from birth and affects multiple body systems, including the musculoskeletal, respiratory, and craniofacial systems, often resulting in developmental delay. Effective management requires a multidisciplinary team capable of providing well-rounded, individualised care that addresses the full range of the individual's needs. Given the complexity of the condition, lifelong support and regular monitoring are essential to ensure a good quality of life from the earliest stages of CCMS.