A Review of campomelic dysplasia syndrome

N. Larasati, P. K. Zahra, E. I. Auerkari

Research output: Contribution to journalConference articlepeer-review


Campomelic dysplasia (CD) is a rare autosomal dominant genetic disorder and severe skeletal dysplasia. It is characterized by a variable relationship between skeletal and extra-skeletal abnormalities: congenital tightness and long bone arches, pelvic and chest abnormalities, eleven pairs of ribs instead of the usual twelve, facial deformities, cracks and sexual ambiguity. The appearance of pelvic joints, horseshoe inversion, pulmonary hypoplasia, abnormalities of the neck and cervical spine, as well as heart and kidney abnormalities also indicate this syndrome. Other findings of the CD include sexual reversals, in which males have chromosomes, but in some individuals have female genitalia and reproductive systems. The CD is caused by a de novo mutation in the SRY box containing gene 9 (SOX9), which is the main regulator of the development of the cartilage skeleton. It plays an important role in the selection and differentiation of mesenic cells of the chondrocyte lineage of all components of the cartilage skeleton. Most affected individuals have recognizable mutations. It has been reported that heterozigosity involves mutations involving missene, meaningless mutations, deletions in the coding area, and mutations that sometimes interfere with the reorganity of chromosomes in the SOX9 regulatory area. Loss or loss of control over this regulatory area around SOX9 may explain the level of craniophaasial defects described in CD syndrome. We outline the clinical picture, treatment and spectrum of mutations involved in CD syndrome. However, more research is needed to determine the effects of SOX9 on the binding of other genes that function well or are unknown on cartilage.

Original languageEnglish
Article number012094
JournalJournal of Physics: Conference Series
Issue number1
Publication statusPublished - 14 Jul 2021
Event10th International Seminar on New Paradigm and Innovation of Natural Sciences and itsApplication, ISNPINSA 2020 - Virtual, Online, Indonesia
Duration: 24 Sept 202025 Sept 2020


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