Raine syndrome

Common Name(s)

Raine syndrome

Raine syndrome is a neonatal osteosclerotic bone dysplasia of early and aggressive onset that usually results in death within the first few weeks of life, although there have been some reports of survival into childhood. Radiographic studies show a generalized increase in the density of all bones and a marked increase in the ossification of the skull. The increased ossification of the basal structures of the skull and facial bones underlies the characteristic facial features, which include narrow prominent forehead, proptosis, depressed nasal bridge, and midface hypoplasia. Periosteal bone formation is also characteristic of this disorder and differentiates it from osteopetrosis and other known lethal and nonlethal osteosclerotic bone dysplasias. The periosteal bone formation typically extends along the diaphysis of long bones adjacent to areas of cellular soft tissue (summary by {16:Simpson et al., 2009}).
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Raine syndrome" for support, advocacy or research.

There are currently no organizations listed in Disease InfoSearch that support this condition. Create a listing.

 

 

General Support Organizations

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Raine syndrome" returned 3 free, full-text research articles on human participants. First 3 results:

Variability of systemic and oro-dental phenotype in two families with non-lethal Raine syndrome with FAM20C mutations.
 

Author(s): Ana Carolina Acevedo, James A Poulter, Priscila Gomes Alves, Caroline Lourenço de Lima, Luiz Claudio Castro, Paulo Marcio Yamaguti, Lilian M Paula, David A Parry, Clare V Logan, Claire E L Smith, Colin A Johnson, Chris F Inglehearn, Alan J Mighell

Journal:

 

Raine syndrome (RS) is a rare autosomal recessive bone dysplasia typified by osteosclerosis and dysmorphic facies due to FAM20C mutations. Initially reported as lethal in infancy, survival is possible into adulthood. We describe the molecular analysis and clinical phenotypes of five ...

Last Updated: 1 May 2015

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The Raine syndrome protein FAM20C is a Golgi kinase that phosphorylates bio-mineralization proteins.
 

Author(s): Hiroyuki O Ishikawa, Aiguo Xu, Eri Ogura, Gerard Manning, Kenneth D Irvine

Journal: PLoS ONE. 2012 ;7(8):e42988.

 

Raine syndrome is caused by mutations in FAM20C, which had been reported to encode a secreted component of bone and teeth. We found that FAM20C encodes a Golgi-localized protein kinase, distantly related to the Golgi-localized kinase Four-jointed. Drosophila also encode a Golgi-localized ...

Last Updated: 17 Aug 2012

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Mutations in FAM20C are associated with lethal osteosclerotic bone dysplasia (Raine syndrome), highlighting a crucial molecule in bone development.
 

Author(s): M A Simpson, R Hsu, L S Keir, J Hao, G Sivapalan, L M Ernst, E H Zackai, L I Al-Gazali, G Hulskamp, H M Kingston, T E Prescott, A Ion, M A Patton, V Murday, A George, A H Crosby

Journal: Am. J. Hum. Genet.. 2007 Nov;81(5):906-12.

 

The generation and homeostasis of bone tissue throughout development and maturity is controlled by the carefully balanced processes of bone formation and resorption. Disruption of this balance can give rise to a broad range of skeletal pathologies. Lethal osteosclerotic bone dysplasia ...

Last Updated: 9 Oct 2007

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Reviews from the PubMed Database

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The terms "Raine syndrome" returned 0 free, full-text review articles on human participants.

 
 
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