Cleidocranial dysplasia is a skeletal disorder with autosomal dominant inheritance. The clinical hallmarks of CCD are short stature, delayed closure of cranial fontanels and sutures, Wormian bones, frontal bossing, supernumerary and late erupting teeth, rudimentary or absent clavicles, wide pubic symphysis, and other skeletal anomalies. RUNX2, also known as Cbfa-1, is a transcription factor associated with osteoblast differentiation.
The reference by Khoshal et al reviews the orthopedic issues with campomelic dysplasia, which has improved life expectancy due to improvements in pulmonary treatment(s). There are several types of campomelic dysplasia; however, it is characterized by the presence of anteriorly bowed tibias with cutaneous dimpling, anterolaterally bowed femurs, thoracic kyphoscoliosis, hypoplastic scapulas, and absence or delayed ossification of thoracic pedicles.
The reference by Makitie et al reviews the Schmid type of metaphyseal chondrodysplasia, which is characterized by short stature, widened growth plates, and bowing of the long bones. It results from autosomal dominant mutations of COL10A1, the gene which encodes alpha1(X) chains of type X collagen.
1: BMP-2 loss of function does not lead to cleidocranial dysplasia
2: overproduction of cAMP causes overexpression of c-fos, which regulates proliferation and differentiation of osteoblasts and osteoclasts, mutations in cAMP can lead to fibrous dysplasia
3: c-fos regulates proliferation and differentiation of osteoblasts and osteoclasts
4: campomelic dysplasia is caused by mutations in the SOX-9 gene
Khoshhal K, Letts RM. Orthopaedic manifestations of campomelic dysplasia. Clin Orthop Relat Res. 2002 Aug;(401):65-74.
PMID:12151884. (Link to Abstract)
Mäkitie O, Susic M, Ward L, Barclay C, Glorieux FH, Cole WG. Schmid type of metaphyseal chondrodysplasia and COL10A1 mutations--findings in 10 patients. Am J Med Genet A. 2005 Sep 1;137A(3):241-8.
PMID:16088909 (Link to Abstract)