has material basis in germline mutation in RUNX2 syndromic disease osteochondrodysplasia cleidocranial dysplasia 1 https://www.malacards.org/card/cleidocranial_dysplasia https://www.malacards.org/card/cleidocranial_dysplasia_1 SCTID:65976001 Orphanet:1452 dysplasia cleidocranial NCIT:C75020 UMLS:C0008928 MESH:D002973 ICD9:755.59 MONDO:0007340 DOID:13994 NORD:978 CCD GARD:0006118 Cleidocranial Dysplasia cleidocranial dysplasia cleidocranial dysostosis CLCD MEDGEN:3486 OMIM:119600 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.