INTRODUCTION
Cleidocranial Dysplasia (CCD) stands as a captivating enigma within the realm of medical conditions. Despite its rarity, its impact on those affected can be profound, shaping not only their physical appearance but also their daily lives and sense of self. This congenital disorder, characterized by dentofacial and skeletal and abnormalities, particularly in the collarbones and skull, has long puzzled researchers and clinicians alike. However, recent advances in genetics, molecular biology, and medical imaging have begun to illuminate the intricate complexities underlying CCD.
In this article, we embark on a journey to unravel the mysteries surrounding Cleidocranial Dysplasia by discussing its etiology, clinical features, oral manifestations, diagnosis and available treatment options.
ETIOLOGY
Mutation in Core Binding Factor Alpha 1(CBFA1) located on 6p21 Chromosome is responsible for this condition. CBFA1 plays a vital role in the differentiation of the stem cells into osteoblasts. Consequently, any abnormalities within this gene can disrupt the formation of both membranous and endochondral bones.
CLINICAL FEATURES
Individuals affected by CCD typically exhibit a characteristic facial appearance.
Delayed closure of fontanels.
Premature closing of coronal suture.
Frontal bossing
Presence of metopic groove in the midline of the forehead
Rudimentary or absent clavicle and thereby patient can to touch their shoulders together in the midline.
Absent or reduced frontal and paranasal sinuses are absent or reduced.
Small nasal bones and sometimes nasal bones are absent.
Top of Form
Bottom of Form
Hypertelorism
Elongated neck
Segmental calvarial thickening
Hypermobility of shoulders with a tendency to anteriorly approximate them.
Vertebral deformities like Kyphosis, Scoliosis, Spina bifida, hemivertebra, and cervical ribs.
ORAL MANIFESTATIONS
Underdeveloped maxilla compared to mandible.
Deep and narrow palate, presence of cleft in the palate.
Delayed loss of primary teeth.
Delayed eruption of permanent teeth.
Presence of supernumerary teeth morphologically similar to premolars.
Mandibular prognathism.
Malaligned tooth or Malocclusion.
Enamel hypoplasia.
Roots of teeth are short and thin as compared to normal teeth.
DIAGNOSIS
Radiographic imaging are helpful for the diagnosis of CCD. Radiographic examination reveals;
Hypoplastic or absent clavicles and the changes are asymmetric
Open fontanelle
OPG shows multiple supernumerary teeth
Delay in the ossification of pelvic bone especially ischial and pubic bones
Spina bifida occulta seen on the cervical and upper thoracic levels
TREATMENTS
There is no specific treatment for CCD. Certain procedures can be done only for the correction of the cranial and dentofacial deformities associated with CCD, which includes;
Surgical procedures are done at the age of 5 to prevent the worsening of this deformity.
Craniofacial surgeries to correct the cranial deformities.
Dentures are placed above the unerupted teeth.
Extraction of supernumerary and impacted teeth.
Orthognathic surgery to correct the dentofacial deformities.
Orthodontic correction of malocclusion.
Dental implant placement to restore the missing teeth.
In case of open fontanelle appropriate head gears may be advised by the orthopedist for protection from injuries.
CONCLUSION
In conclusion, Cleidocranial Dysplasia (CCD) presents a multifaceted challenge, yet recent advancements in understanding its etiology, diagnosis, clinical manifestations, and treatment options offer promising avenues for patients and clinicians alike. While genetic mutations underpin its development, the wide spectrum of clinical features, notably its distinctive skeletal and oral manifestations, underscores the importance of a multidisciplinary approach to diagnosis and management. Through comprehensive genetic testing, radiographic assessments, and dental evaluations, early detection becomes feasible, enabling timely interventions to mitigate complications and improve patients' quality of life. Despite the absence of a definitive cure, tailored treatment strategies, including surgical interventions and orthodontic procedures, aim to address specific phenotypic concerns and functional impairments. Moving forward, continued research endeavors and collaborative efforts among healthcare professionals remain essential in unraveling the complexities of CCD, ultimately fostering enhanced therapeutic modalities and better outcomes for affected individuals.
REFERENCES
Cleidocranial dysplasia-Etiology, Clinicoradiological Presentation and management- Izamet Rezani Toptanici, Hakan Kolak, Serhat Koseoglu 2012.
Oral Diseases for General Dentist-Tibebu M Tsegga DDS, Cody J. Christensen DDS, in dental clinics of North America 2020.
Cleidocranial dysplasia- A case report of incidentally found and lately diagnosed disorder-Ayush Adhikari, Suraj Shreshta, Prabin Bhattarai, Surendra Khanal, Rajan Lamicchane, Ramesh Balayar, Sobin Panda and Kundan Marasini 2022.
By Dr. AMINGOLD M J
