cleidocranial dysplasia 1

Cleidocranial dysplasia 1 is a condition that primarily affects the development of bones and teeth. It is caused by mutations in the RUNX2 gene, which play a critical role in the formation of the skeleton and dentition. The condition is inherited in an autosomal dominant pattern, so it can be passed from an affected parent or result from a new mutation. It is rare and affects roughly 1 to 9 per million people.

The clinical presentation of cleidocranial dysplasia 1 is most notable for its skeletal, dental, and craniofacial features. Characteristic findings include underdeveloped or absent collarbones, supernumerary teeth, delayed eruption of teeth, and abnormal dental enamel. Additional features such as large fontanelles, parietal and frontal bossing, a sloping and often wide forehead, and various skeletal dysplasias are frequently observed. Some individuals also experience recurrent sinus and ear infections, and there may be associated hearing loss. Not all individuals experience all features, and severity varies considerably.

Cleidocranial dysplasia 1 is caused by mutations in the RUNX2 gene, which is essential for proper bone and dental development. The disruption of RUNX2 activity impairs the formation and ossification of bones, leading to the characteristic features observed in affected individuals. The condition is inherited in an autosomal dominant pattern, meaning that a single copy of the altered gene can cause the disorder. In some cases, the mutation arises de novo, which means it occurs as a new change and is not inherited from a parent. Genetic counseling is recommended to help families understand the implications for family planning.

Currently, management focuses on supportive care and symptom relief tailored to the individual’s needs. Treatment may include dental procedures to manage dental anomalies, surgical interventions to address skeletal abnormalities, and medical management of recurrent sinus and ear infections. A multidisciplinary team, often including dental surgeons, orthopedic specialists, and ENT professionals, is essential for comprehensive care. Regular surveillance is an essential part of long-term management, helping to identify potential complications early. Patients should discuss treatment options with their healthcare team and seek genetic counseling to better understand inheritance considerations.

With current standards of care, many individuals with cleidocranial dysplasia 1 lead active lives, although the clinical course is highly variable. The condition is lifelong, and while early childhood may present with noticeable skeletal and dental challenges, many individuals experience stabilization and benefit from ongoing supportive management into adulthood. Outcomes continue to evolve as care strategies improve, and severity and symptoms vary widely between individuals. Families often find it helpful to connect with specialists familiar with this condition, and genetic counseling can provide guidance on family planning options.

Clinical trials are underway exploring new treatment approaches for cleidocranial dysplasia 1. Individuals interested in learning more about potential research studies are encouraged to search ClinicalTrials.gov or consult their care team about eligibility.