Citation, DOI, disclosures and article data
Citation:
Mastragostino M, Sharma R, Bell D, Raine syndrome. Reference article, Radiopaedia.org (Accessed on 28 Mar 2024) https://doi.org/10.53347/rID-58055
Raine syndrome, also known as lethal osteosclerotic bone dysplasia, is a very rare genetic disorder. Infants with this syndrome present with numerous characteristic craniofacial features as well as cerebral calcifications. Many individuals with this disorder are stillborn or die as neonates 4.
The estimated incidence of Raine syndrome is less than 1 in 1,000,000 1.
- craniofacial:
- microcephaly
- cleft palate
- hypoplastic nose
- gum hyperplasia
- exophthalmos
- low set ears 3
- cerebral calcifications 4
Genetics
Raine syndrome occurs due to a point mutation in the FAM20C gene which codes for a Golgi-related protein kinase known as FAM20C, which is a secreted element within both teeth and bone. FAM20C is responsible for phosphorylation of a peptide which inhibits biomineralisation 2.
History and etymology
The syndrome was first described in 1989 by Raine and Winter 3.
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1. Faundes, V., Castillo-Taucher, S., Gonzalez-Hormazabal, P., Chandler, K., Crosby, A., & Chioza, B. (2014). Raine syndrome: An overview. European Journal of Medical Genetics, 57(9), 536-542.
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2. Ishikawa, H.O., Xu, A., Ogura, E., Manning, G., & Irvine, K.D. (2012). The Raine Syndrome Protein FAM20C Is a Golgi Kinase That Phosphorylates Bio-Mineralization Proteins. PLoS One, 7(8), e42988.
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3. Raine, J., Winter, R.M., Davey, A., & Tucker, S.M. (1989). Unknown syndrome: microcephaly, hypoplastic nose, exophthalmos, gum hyperplasia, cleft palate, low set ears, and osteosclerosis. Journal of Medical Genetics, 26(12), 786–788
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4. Vishwanath B, Srinivasa K, Shankar MV. Raine syndrome. (2014) Indian journal of human genetics. 20 (1): 72-4. doi:10.4103/0971-6866.132761 - Pubmed
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