Craniofacial dysostosis-diaphyseal hyperplasia syndrome is a rare genetic disorder characterized by craniofacial dysostosis, small cranium with accompanying thin skullbone, generalized depressions on the frontoparietal and occipitoparietal sutures. It includes underdevelopment of the chin, exophthalmos, long bone cortical sclerosis (bending and shortening), and puberty-onset progressive bone cortex thickening.[2][3][4] It is inherited following an autosomal dominant inheritance pattern.[5] Around 14 cases from 3 families worldwide have been described in medical literature[6] (although the number might be higher since one of the families described with the disorder supposedly had other members who had the same syndrome but weren't physically examined by researchers).[7]
| Craniofacial dysostosis-diaphyseal hyperplasia syndrome | |
|---|---|
| Other names | Dysostosis Stanescu type, Stanescu osteosclerosis[1] |
 | |
| Specialty | Medical genetics |
References
edit- ^ Roberts, Sean (16 June 2022). "Craniofacial dysostosis with diaphyseal hyperplasia".
- ^ "Orphanet: Dysostosis, Stanescu type". www.orpha.net. Retrieved 2022-08-09.
- ^ "Craniofacial dysostosis with diaphyseal hyperplasia - About the Disease - Genetic and Rare Diseases Information Center". rarediseases.info.nih.gov. Retrieved 2022-08-09.
- ^ "Craniofacial Dysostosis with Diaphyseal Hyperplasia". DoveMed. Retrieved 2022-08-09.
- ^ "Craniofacial Dysostosis With Diaphyseal Hyperplasia". www.findzebra.com. Retrieved 2022-08-09.
- ^ "Entry - 122900 - Craniofacial Dysostosis With Diaphyseal Hyperplasia". omim.org. Retrieved 2022-08-09.
- ^ Horovitz, D. D.; Barbosa Neto, J. G.; Boy, R.; Vargas, F. R.; Llerena Júnior, J. C.; de Almeida, J. C. (1995-07-17). "Autosomal dominant osteosclerosis type Stanescu: the third family". American Journal of Medical Genetics. 57 (4): 605–609. doi:10.1002/ajmg.1320570418. ISSN 0148-7299. PMID 7573138.
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