Sclerosteosis

Common Name(s)

Sclerosteosis, Cortical Hyperostosis Syndactyly

Sclerosteosis is a severe sclerosing bone dysplasia characterized by progressive skeletal overgrowth. Syndactyly is a variable manifestation. The disorder is rare and the majority of affected individuals have been reported in the Afrikaner population of South Africa (summary by {8:Brunkow et al., 2001}). Genetic Heterogeneity of Sclerosteosis Sclerosteosis-2 (SOST2; {614305}) is caused by mutation in the LRP4 gene ({604270}) on chromosome 11p11.2.
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Sclerosteosis" 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 "Sclerosteosis" returned 9 free, full-text research articles on human participants. First 3 results:

A Novel Loss-of-Sclerostin Function Mutation in a First Egyptian Family with Sclerosteosis.
 

Author(s): Alaaeldin Fayez, Mona Aglan, Nora Esmaiel, Taher El Zanaty, Mohamed Abdel Kader, Mona El Ruby

Journal: Biomed Res Int. 2015 ;2015():517815.

 

Sclerosteosis is a rare autosomal recessive condition characterized by increased bone density. Mutations in SOST gene coding for sclerostin are linked to sclerosteosis. Two Egyptian brothers with sclerosteosis and their apparently normal consanguineous parents were included in this ...

Last Updated: 18 May 2015

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Patients with sclerosteosis and disease carriers: human models of the effect of sclerostin on bone turnover.
 

Author(s): Antoon H van Lierop, Neveen At Hamdy, Herman Hamersma, Rutger L van Bezooijen, Jon Power, Nigel Loveridge, Socrates E Papapoulos

Journal: J. Bone Miner. Res.. 2011 Dec;26(12):2804-11.

 

Sclerosteosis is a rare bone sclerosing dysplasia, caused by loss-of-function mutations in the SOST gene, encoding sclerostin, a negative regulator of bone formation. The purpose of this study was to determine how the lack of sclerostin affects bone turnover in patients with sclerosteosis ...

Last Updated: 22 Nov 2011

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Polymorphisms in the sclerosteosis/van Buchem disease gene (SOST) region are associated with bone-mineral density in elderly whites.
 

Author(s): Andre G Uitterlinden, Pascal P Arp, Bryan W Paeper, Patrick Charmley, Sean Proll, Fernando Rivadeneira, Yue Fang, Joyce B J van Meurs, Theresa B Britschgi, John A Latham, Randall C Schatzman, Huibert A P Pols, Mary E Brunkow

Journal: Am. J. Hum. Genet.. 2004 Dec;75(6):1032-45.

 

Osteoporosis has a strong genetic component, but the genes involved are poorly defined. We studied whether the sclerosteosis/van Buchem disease gene (SOST) is an osteoporosis-risk gene by examining its association with bone-mineral density (BMD). Mutations in SOST result in sclerosteosis, ...

Last Updated: 29 Oct 2004

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Sclerosteosis" returned 1 free, full-text review articles on human participants. First 3 results:

Identification of the disease-causing gene in sclerosteosis--discovery of a novel bone anabolic target?
 

Author(s): W Balemans, W Van Hul

Journal: J Musculoskelet Neuronal Interact. 2004 Jun;4(2):139-42.

 

Genetic studies recently unraveled the genetic cause of sclerosteosis, a rare skeletal dysplasia characterized by a generalized increase in bone mass. Different loss-of-function mutations were identified in SOST, a gene with no homology to any known gene. This SOST gene is also involved ...

Last Updated: 23 Dec 2004

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Symptoms, Diagnosis, and Treatment

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Clinical Trial Information This information is provided by ClinicalTrials.gov

There are currently no open clinical trials for this condition.