disease has feature Reduced bone mineral density syndromic disease multiple congenital anomalies/dysmorphic syndrome without intellectual disability Cole-Carpenter syndrome https://www.malacards.org/card/cole_carpenter_syndrome_3 Orphanet:2050 DOID:0060438 Cole Carpenter syndrome NCIT:C130985 MESH:C535963 MONDO:0016085 An extremely rare form of bone dysplasia characterized by the features of osteogenesis imperfecta such as bone fragility associated with multiple fractures, bone deformities (metaphyseal irregularities and bowing of the long bones) and blue sclera, in association with growth failure, craniosynostosis, hydrocephalus, ocular proptosis, and distinctive facial features (e.g. frontal bossing, midface hypoplasia, and micrognathia). bone fragility-craniosynostosis-proptosis-hydrocephalus syndrome MEDGEN:350614 icd11.foundation:1458793358 UMLS:C1862178 GARD:0001425 OMIMPS:112240 skeletal dysplasia osteogenesis imperfecta obsolete primary bone dysplasia with decreased bone density