Cleidocranial Dysplasia

External Ids:

OMIM 53 119600 Disease Ontology 12 DOID:13994 ICD10 32 Q74.0 MeSH 41 D002973 NCIt 46 C75020 SNOMED-CT 64 240193006 65976001 Orphanet 55 ORPHA1452

MESH via Orphanet 42 D002973 UMLS via Orphanet 70 C0008928 ICD10 via Orphanet 33 Q74.0 MedGen 39 C0008928 C1838416 C1861516 KEGG 36 H00521 SNOMED-CT via HPO 65 263681008 3639002 63567004 87979003 27272007 276709006 36971009 7393007 13649004 109504005 22810007 194021007 22006008 32958008 103276001 15188001 343087000 95828007 21186006 80967001 5639000 249696007 249671009 72535009 93250003 64859006 43476002 299130003 249768009 90145001 113194005 111266001 64217002 105985007 240190009 134291007 5468008 414564002 74820003 299330008 76916001 274152003 240221008 111496009 237836003 253980008 26597004 699382004 699421005 73430006 35580009 49347007 266414008 367534004 8666004 more UMLS 69 C0008928

NIH Rare Diseases : ⁴⁹ Cleidocranial dysplasia (CCD) is a condition that primarily affects the development of the bones and teeth. Characteristic features include underdeveloped or absent collarbones (clavicles); dental abnormalities; and delayed closing of the spaces between the skull bones (fontanels). Other features may include decreased bone density (osteopenia), osteoporosis, hearing loss, bone abnormalities of the hands, and recurrent sinus and ear infections. CCD is caused by changes (mutations) in the RUNX2 gene and inheritance is autosomal dominant. It may be inherited from an affected parent or occur due to a new mutation in the RUNX2 gene. Management may include dental procedures, treatment of sinus and ear infections, use of helmets for high-risk activities, and/or surgery for skeletal problems. Last updated: 4/7/2016

MalaCards based summary : Cleidocranial Dysplasia, also known as cleidocranial dysostosis, is related to parietal foramina with cleidocranial dysplasia and parietal foramina, and has symptoms including macrocephaly, hypertelorism and frontal bossing. An important gene associated with Cleidocranial Dysplasia is RUNX2 (Runt Related Transcription Factor 2), and among its related pathways/superpathways are Wnt / Hedgehog / Notch and Mesenchymal Stem Cell Differentiation Pathways and Lineage-specific Markers. Affiliated tissues include bone, myeloid and kidney, and related phenotypes are craniofacial and growth/size/body region

OMIM : ⁵³ The main clinical features of CCD include persistently open skull sutures with bulging calvaria, hypoplasia or aplasia of the clavicles permitting abnormal facility in apposing the shoulders, wide pubic symphysis, short middle phalanx of the fifth fingers, dental anomalies, and often vertebral malformation. See 168550 for a discussion of the combination of cleidocranial dysplasia and parietal foramina. Pycnodysostosis (265800) and mandibuloacral dysplasia (248370) are disorders to be considered in the differential diagnosis of cleidocranial dysplasia. Acroosteolysis and bone sclerosis with tendency to fracture are differentiating features of pycnodysostosis. Mundlos (1999) provided a review of the clinical features of cleidocranial dysplasia and the molecular basis of this disorder. (119600)

UniProtKB/Swiss-Prot : ⁷¹ Cleidocranial dysplasia: Autosomal dominant skeletal disorder with high penetrance and variable expressivity. It is due to defective endochondral and intramembranous bone formation. Typical features include hypoplasia/aplasia of clavicles, patent fontanelles, wormian bones (additional cranial plates caused by abnormal ossification of the calvaria), supernumerary teeth, short stature, and other skeletal changes. In some cases defects in RUNX2 are exclusively associated with dental anomalies.

Genetics Home Reference : ²⁴ Cleidocranial dysplasia is a condition that primarily affects development of the bones and teeth. Signs and symptoms of cleidocranial dysplasia can vary widely in severity, even within the same family.

Disease Ontology : ¹² An osteochondrodysplasia that has material basis in mutations in the RUNX2 gene which results_in undeveloped or absent located in clavicle along with delayed closing of fontanels in the located in skull.

Clinical features from OMIM:

119600

Search Clinical Trials , NIH Clinical Center for Cleidocranial Dysplasia

Search GEO for disease gene expression data for Cleidocranial Dysplasia.