Cleidocranial dysplasia (CCD) spectrum disorder is a skeletal dysplasia that represents a
clinical continuum ranging from classic CCD (triad of delayed closure of the cranial sutures …

Cleidocranial dysplasia (CCD) is a rare autosomal dominant disorder with facial, dental, and
skeletal impairments. Affected individuals have varying degrees of skull, shoulder, dental …

METTL5 is a methyltransferase that mediates eukaryotic 18S ribosomal RNA m 6 A
modification, and its mutations lead to intellectual disability, microcephaly, and facial …

Background and aims Cleidocranial dysplasia (CCD) represents a rare autosomal dominant
skeletal dysplasia caused by mutations that induce haploinsufficiency in RUNX2, the …

Traditionally, Cornelia de Lange Syndrome (CdLS) is considered a cohesinopathy caused
by constitutive mutations in cohesin complex genes. Cohesin is a major regulator of …

The diagnosis of Cleidocranial dysplasia is approached via clinical features, genetic testing,
and imaging. CCD includes delayed or non-closure of cranial sutures the presence of …

Cleidocranial dysplasia is a rare disease with an autosomal‐dominant inheritance that
mainly affects the bones of the axial skeleton. In this report, we discuss the clinical and …

Cleidocranial dysplasia (CCD) is mainly attributable to a variant of runt-related transcription
factor 2 (RUNX2) on chromosome 6p21. CCD is an autosomal dominant skeletal disorder …

Key Clinical Message Cleidocranial dysplasia (CCD) is a rare genetic skeletal disorder with
only few cases reported in Africa, mostly based on clinical and radiological findings. We …

Cleidocranial dysplasia is a dominantly inherited skeletal dysplasia resulting from inherited
or spontaneous mutations of Runt-related transcription factor 2 gene (RUNX2). It represents …