Cleidocranial dysplasia with preserved function under conservative management: a case report

Cleidocranial dysplasia (CCD) is a rare autosomal dominant skeletal disorder caused by pathogenic variants in the RUNX2 gene and characterized by delayed closure of cranial sutures, clavicular hypoplasia, and dental abnormalities. The clinical phenotype is highly heterogeneous, and data on the long-term natural history of CCD with preserved function remain limited.

We reviewed the longitudinal clinical data of a male child with genetically confirmed CCD carrying a RUNX2 c.631C > T (p.R211W) variant. CCD-specific evaluation was initiated at approximately 4 years of age because of persistent delayed anterior fontanelle closure and clavicular abnormalities. Assessments included physical examination, cranial CT/MRI, chest imaging, panoramic dental radiography, whole-exome sequencing with parental validation, and endocrine follow-up.

This case supports individualized conservative management for selected patients with CCD who have preserved function despite structural abnormalities. Longitudinal multidisciplinary follow-up is essential for guiding dental, endocrine, orthopedic, and functional management.

Despite typical skeletal and dental manifestations, the patient maintained preserved shoulder and upper limb function through 12 years of age, without recurrent fractures, persistent pain, functional limitation, or need for orthopedic or thoracic surgical intervention. A function-oriented conservative management strategy remained appropriate. Height SDS improved during rhGH-related follow-up; however, this observation should be interpreted cautiously because growth may also have been influenced by hypothyroidism, thyroid hormone replacement, normal development, and pubertal maturation.