Cleidocranial Dysplasia: A Comprehensive Overview

Introduction

Cleidocranial Dysplasia (CCD) is a rare congenital condition that affects the development of bones and teeth. First described in medical literature over a century ago, CCD has attracted considerable attention due to its distinctive clinical presentation and the challenges it poses in diagnosis and management.

Historical Context

The first documented cases of Cleidocranial Dysplasia date back to the late 19th and early 20th centuries, when physicians began to notice a constellation of symptoms—most notably underdeveloped or absent clavicles and dental abnormalities—in certain patients. Over the years, advances in genetics and imaging have deepened our understanding of this condition, transforming CCD from a clinical curiosity into a well-characterised disorder with established diagnostic criteria and management protocols.

Medical Definition

Cleidocranial Dysplasia is a skeletal dysplasia primarily affecting the bones that form by intramembranous ossification, such as the skull, clavicles, and facial bones. The term “cleidocranial” refers to the involvement of both the clavicle (“cleido-”) and the cranium (“cranial”). CCD manifests as hypoplasia or aplasia of the clavicles, delayed closure of cranial sutures, and a range of dental anomalies. It is classified as a genetic disorder, typically inherited in an autosomal dominant fashion.

Prevalence and Demographics

CCD is considered a rare condition, with an estimated incidence of 1 in 1,000,000 individuals worldwide. It affects both males and females equally and is observed across diverse ethnic groups. The rarity of CCD often leads to delayed diagnosis, especially in regions with limited access to specialised genetic testing and imaging facilities.

Genetic and Molecular Basis

Genetic Mutations

The primary genetic defect associated with CCD involves mutations in the RUNX2 gene (also known as CBFA1), located on chromosome 6p21. RUNX2 encodes a transcription factor that is essential for osteoblast differentiation and bone formation. Mutations in this gene disrupt the normal process of intramembranous ossification, leading to the characteristic skeletal and dental manifestations of CCD.

Inheritance Patterns

CCD is most commonly inherited in an autosomal dominant manner, meaning a single copy of the mutated gene from either parent is sufficient to cause the disorder. In some cases, CCD arises due to de novo mutations, with no prior family history. Penetrance is high, but expressivity can vary, resulting in a spectrum of clinical severity even within the same family.

Molecular Pathophysiology

The RUNX2 protein plays a critical role in the regulation of bone and tooth development. Its deficiency or dysfunction impairs the differentiation of precursor cells into osteoblasts, resulting in delayed or abnormal ossification. This molecular defect underlies the broad range of skeletal and dental anomalies observed in CCD, including open cranial sutures, hypoplastic clavicles, and supernumerary teeth.

Clinical Features and Symptoms

Skeletal Manifestations

The skeletal abnormalities in CCD are distinctive and form the basis for clinical diagnosis. Key features include:

• Clavicular hypoplasia or aplasia: Patients may have partially formed or absent clavicles, allowing unusual mobility of the shoulders. This can be visually striking, as individuals can often approximate their shoulders in front of their chest.
• Cranial abnormalities: Persistent open fontanelles and delayed closure of cranial sutures are common, resulting in a prominent forehead (frontal bossing) and brachycephaly.
• Facial and pelvic anomalies: Patients may exhibit midface hypoplasia, a small maxilla, and wide pubic symphysis.
• Short stature: Mild to moderate shortness in height is frequently reported.
• Spinal and thoracic deformities: Scoliosis, kyphosis, and bell-shaped thorax may be present in some cases.

Dental Manifestations

Dental anomalies are a hallmark of CCD and can significantly impact function and aesthetics. Common features include:

• Delayed eruption of permanent teeth
• Multiple supernumerary teeth (hyperdontia)
• Retention of primary teeth
• Malformed or absent teeth
• High-arched palate

These dental issues often require extensive intervention and can affect speech, mastication, and self-esteem.

Other Manifestations

While skeletal and dental anomalies are most prominent, CCD can also involve other systems:

• Hearing loss: Conductive hearing impairment may occur due to ossicular abnormalities.
• Sinus and respiratory issues: Increased susceptibility to sinus infections and respiratory complications.
• Musculoskeletal pain: Chronic discomfort due to skeletal deformities.

Diagnosis

Clinical Evaluation

Diagnosis of CCD begins with a thorough clinical assessment. Key indicators include the physical signs of clavicular hypoplasia, cranial suture abnormalities, and dental findings. A detailed family history is essential to identify hereditary patterns and guide genetic counselling.

Imaging Studies

Radiological investigations are central to confirming the diagnosis:

• X-rays: Reveal absent or underdeveloped clavicles, open cranial sutures, supernumerary teeth, and pelvic anomalies.
• CT scans: Provide detailed views of cranial and dental structures, useful for surgical planning.
• Orthopantomogram (OPG): Used to assess dental abnormalities and plan dental interventions.

Genetic Testing

Definitive diagnosis can be achieved through molecular genetic testing, which detects mutations in the RUNX2 gene. Genetic counselling is recommended for affected individuals and their families to discuss inheritance risks and reproductive options.

Differential Diagnosis

It is important to distinguish CCD from other skeletal dysplasias, such as pyknodysostosis, osteogenesis imperfecta, and hypophosphatasia, which may present with overlapping features but have different genetic and clinical profiles.

Treatment and Management

Medical Management

There is no cure for CCD, but a range of interventions can address its manifestations and improve quality of life. Medical management focuses on monitoring growth, managing pain, and preventing complications.

Surgical Interventions

Surgical procedures may be indicated for:

• Dental rehabilitation: Extraction of supernumerary teeth, exposure and alignment of impacted permanent teeth, and prosthetic replacements.
• Cranial surgery: In rare cases, closure of persistent fontanelles to protect the brain.
• Orthopaedic surgery: Correction of spinal deformities, pelvic reconstruction, and management of thoracic anomalies.

Dental Interventions

Dental care is central to CCD management, often requiring collaboration between orthodontists, oral surgeons, and prosthodontists. Treatment plans may include:

• Early extraction of primary teeth to facilitate eruption of permanent teeth
• Surgical exposure and orthodontic alignment of impacted teeth
• Placement of dental implants or prostheses
• Regular dental hygiene and preventive care

Multidisciplinary Care

Optimal management of CCD involves a multidisciplinary team including paediatricians, geneticists, orthopaedic surgeons, dentists, audiologists, and psychologists. Regular follow-up is essential to monitor growth, development, and emerging complications.

Supportive Therapies

Additional interventions may include:

• Physical therapy to improve mobility and posture
• Speech therapy for patients with high-arched palate or dental anomalies affecting speech
• Psychological support to address self-esteem and coping challenges

Prognosis and Long-Term Outcomes

Life Expectancy

With appropriate medical and dental care, individuals with CCD generally have a normal life expectancy. The condition does not typically affect vital organs, and most complications are manageable with timely intervention.

Quality of Life

Quality of life can be significantly affected by the physical, dental, and psychosocial challenges of CCD. Early diagnosis and comprehensive care are critical to minimising disability and promoting well-being. Patients who receive coordinated multidisciplinary support often achieve successful educational, occupational, and social outcomes.

Complications

Potential complications include:

• Chronic musculoskeletal pain
• Orthopaedic deformities such as scoliosis
• Dental infections and abscesses
• Hearing loss and recurrent sinusitis
• Psychosocial challenges related to appearance and self-esteem

Impact on Patients and Families

Psychosocial Aspects

Living with CCD can pose significant emotional and social challenges. Children may face bullying or isolation due to their appearance or speech difficulties, while adults may experience self-consciousness or anxiety. Support from family, peers, and mental health professionals is vital to fostering resilience and self-acceptance.

Support Resources

Numerous organisations and online communities offer information, advocacy, and peer support for individuals and families affected by CCD. Genetic counselling and patient education are essential components of care, helping families navigate the complexities of diagnosis, treatment, and inheritance.

Role of Education and Advocacy

Increasing awareness among medical professionals, educators, and the public is key to improving the lives of those with CCD. Advocacy efforts focus on promoting early diagnosis, access to specialised care, and inclusion in educational and social settings.

Nursing Care of Patients with Cleidocranial Dysplasia

As nurses, providing holistic, individualized, and compassionate care to patients with CCD is essential throughout their lifespan—from infancy through adulthood.

Holistic Assessment of Patients with CCD

Initial Evaluation:

• Comprehensive health history, including familial occurrence of CCD and previous dental or orthopedic surgeries.
• Physical examination for skeletal anomalies—shoulder mobility, cranial suture status, thoracic shape, stature, and gait.
• Detailed dental assessment, documenting delayed eruption, malocclusion, supernumerary teeth, and oral hygiene habits.
• Developmental milestones, as some children may experience delays due to skeletal issues.
• Psychosocial evaluation to ascertain the emotional well-being and coping strategies of the patient and family.

Ongoing Monitoring:

• Regular growth and development tracking, including height, weight, and head circumference.
• Surveillance for complications such as hearing loss, respiratory difficulties, recurrent infections, or orthopedic concerns.
• Dental checkups to monitor for caries, infections, and planning of interventions.

Nursing Interventions and Care Strategies

1. Facilitating Multidisciplinary Management

Patients with CCD benefit from coordinated care involving pediatricians, orthodontists, oral surgeons, genetic counselors, audiologists, and orthopedic specialists. Nurses play a pivotal role in facilitating referrals, scheduling appointments, and ensuring effective communication among team members.

• Educate families about the importance of regular multidisciplinary evaluations.
• Assist in the coordination of diagnostic tests—radiographs, dental imaging, hearing assessments, and genetic testing.
• Monitor progress and relay information between providers and family.

2. Dental and Oral Care

Dental anomalies are central to CCD, often requiring long-term orthodontic and surgical interventions.

• Promote meticulous oral hygiene by teaching proper brushing and flossing techniques.
• Encourage the use of fluoride-containing products to prevent caries.
• Prepare children and families for possible multiple dental procedures, including extractions, implants, or prosthetics.
• Provide emotional support during dental visits, acknowledging anxiety or fear around procedures.
• Monitor for signs of infection or delayed healing post-dental surgery and report promptly to dental team.

3. Orthopedic Support and Mobility

Skeletal abnormalities may lead to postural issues, thoracic deformities, and increased risk of fractures.

• Assess mobility and gait routinely; collaborate with physical therapy for development of individualized exercise plans.
• Educate patients and caregivers on safe movement practices to avoid injury, especially during play or sports.
• Recommend adaptive devices as needed for daily living—such as supportive shoes, braces, or mobility aids.
• Encourage participation in non-contact physical activities, fostering confidence and socialization.
• Monitor for symptoms of scoliosis or kyphosis; refer to orthopedic specialists as necessary.

4. Respiratory and Hearing Assessment

Due to craniofacial anomalies, some patients may experience recurrent upper respiratory infections or hearing loss.

• Monitor for signs and symptoms of respiratory distress or infection (cough, congestion, difficulty breathing).
• Teach parents and patients techniques for airway clearance and infection prevention.
• Arrange periodic hearing evaluations; support the use of hearing aids or assistive devices if indicated.
• Educate families on the importance of prompt reporting of ear pain, hearing changes, or speech difficulties.

5. Psychosocial Support and Advocacy

Living with CCD can impact self-esteem and social integration, particularly due to visible physical differences and dental challenges.

• Provide counseling and emotional support to address body image concerns and social stigma.
• Facilitate connection with support groups or community resources for individuals and families affected by CCD.
• Empower patients to advocate for accommodations at school or work, such as flexible schedules for medical appointments.
• Educate teachers and peers about CCD to foster an inclusive environment, reducing bullying or discrimination.
• Encourage open communication about feelings and experiences related to CCD.

Health Education for Patients and Families

Genetic Counseling:

• Provide accurate information about inheritance patterns and risks for siblings or future offspring.
• Discuss family planning options and refer to genetic counselors as requested.

Anticipatory Guidance:

• Educate on expected growth and developmental trajectories.
• Prepare families for possible future interventions and the importance of adherence to follow-up schedules.
• Offer guidance on maximizing potential and quality of life despite physical limitations.

Transition to Adult Care:

• Support adolescents and young adults in transitioning from pediatric to adult healthcare services.
• Encourage development of self-management skills and understanding of their condition.
• Promote independence in coordinating appointments and communicating with providers.

Potential Complications and Preventive Measures

Cleidocranial Dysplasia can be associated with complications such as osteopenia, increased fracture risk, chronic ear infections, and dental abscesses.

• Monitor bone health through periodic densitometry and dietary calcium and vitamin D intake.
• Encourage routine vaccinations to minimize infection risk.
• Ensure prompt treatment of dental and ear infections to prevent chronic problems.
• Educate on the signs of complications to facilitate early intervention.

Documentation and Communication

Accurate and thorough documentation is essential in tracking patient progress, planning interventions, and communicating with the multidisciplinary team.

• Record clinical findings, interventions, and responses to treatment.
• Log dental, orthopedic, and audiological assessments and procedures.
• Document psychosocial interactions and support provided.

REFERENCES

1. Cleidocranial Dysplasia Smiles. What is CCD?., https://ccdsmiles.org/education/what-is-ccd/ 
2. Machol K, Mendoza-Londono R, Lee B. Cleidocranial Dysplasia Spectrum Disorder. 2006 Jan 3 [Updated 2023 Apr 13]. In: Adam MP, Feldman J, Mirzaa GM, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2025. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1513/
3. National Organization for Rare Disorders, Inc. Cleidocranial Dysplasia. https://rarediseases.org/rare-diseases/cleidocranial-dysplasia/.
4. U.S. National Library of Medicine. Cleidocranial Dysplasia., https://medlineplus.gov/genetics/condition/cleidocranial-dysplasia/.
5. Jirapinyo C, Deraje V, Huang G, Gue S, Anderson PJ, Moore MH. Cleidocranial Dysplasia: Management of the Multiple Craniofacial and Skeletal Anomalies. J Craniofac Surg. 2020 Jun;31(4):908-911.
6. Farrow E, Nicot R, Wiss A, Laborde A, Ferri J. Cleidocranial Dysplasia: A Review of Clinical, Radiological, Genetic Implications and a Guidelines Proposal. J Craniofac Surg. 2018 Mar;29(2):382-389.
7. Pan CY, Tseng YC, Lan TH, Chang HP. Craniofacial features of cleidocranial dysplasia. J Dent Sci. 2017 Dec;12(4):313-318.

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