Singleton Merten syndrome

Common Name(s)

Singleton Merten syndrome

Singleton Merten syndrome is an extremely rare, multisystem disorder. The major characteristics are tooth abnormalities (dental dysplasia); calcifications in the aorta and certain valves of the heart (i.e., aortic and mitral valves); and progressive thinning and loss of protein of the bones (osteoporosis), especially the upper and back portions of the skull. Other physical findings may include generalized muscle weakness; progressive muscle atrophy; growth delay; delays in motor development; skin conditions; and/or malformation of the hips and/or feet. It appears to occur sporadically (in individuals with no history of the condition in their family) but in some cases, autosomal dominant inheritance has been suggested. Treatment is typically directed toward the specific symptoms that are present in each individual.
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Singleton Merten 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 "Singleton Merten syndrome" returned 4 free, full-text research articles on human participants. First 3 results:

A specific IFIH1 gain-of-function mutation causes Singleton-Merten syndrome.
 

Author(s): Frank Rutsch, Mary MacDougall, Changming Lu, Insa Buers, Olga Mamaeva, Yvonne Nitschke, Gillian I Rice, Heidi Erlandsen, Hans Gerd Kehl, Holger Thiele, Peter Nürnberg, Wolfgang Höhne, Yanick J Crow, Annette Feigenbaum, Raoul C Hennekam

Journal: Am. J. Hum. Genet.. 2015 Feb;96(2):275-82.

 

Singleton-Merten syndrome (SMS) is an infrequently described autosomal-dominant disorder characterized by early and extreme aortic and valvular calcification, dental anomalies (early-onset periodontitis and root resorption), osteopenia, and acro-osteolysis. To determine the molecular ...

Last Updated: 31 Dec 1969

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Mutations in DDX58, which encodes RIG-I, cause atypical Singleton-Merten syndrome.
 

Author(s): Mi-Ae Jang, Eun Kyoung Kim, Hesung Now, Nhung T H Nguyen, Woo-Jong Kim, Joo-Yeon Yoo, Jinhyuk Lee, Yun-Mi Jeong, Cheol-Hee Kim, Ok-Hwa Kim, Seongsoo Sohn, Seong-Hyeuk Nam, Yoojin Hong, Yong Seok Lee, Sung-A Chang, Shin Yi Jang, Jong-Won Kim, Myung-Shik Lee, So Young Lim, Ki-Sun Sung, Ki-Tae Park, Byoung Joon Kim, Joo-Heung Lee, Duk-Kyung Kim, Changwon Kee, Chang-Seok Ki

Journal: Am. J. Hum. Genet.. 2015 Feb;96(2):266-74.

 

Singleton-Merten syndrome (SMS) is an autosomal-dominant multi-system disorder characterized by dental dysplasia, aortic calcification, skeletal abnormalities, glaucoma, psoriasis, and other conditions. Despite an apparent autosomal-dominant pattern of inheritance, the genetic background ...

Last Updated: 31 Dec 1969

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Progressive supra-aortic stenosis in a young adult with the findings of Singleton Merten Syndrome.
 

Author(s): Arda Ozyuksel, Cihangir Ersoy, Emir Canturk, Atif Akcevin

Journal:

 

Singleton Merten Syndrome is an autosomal dominant disorder of unknown origin. Patients often present with muscular weakness, failure to thrive, abnormal dentition, glaucoma, psoriatic skin lesions, aortic calcification and musculoskeletal abnormalities. In this case, we present a ...

Last Updated: 31 Dec 1969

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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 "Singleton Merten syndrome" returned 1 free, full-text review articles on human participants. First 3 results:

MDA5-Associated Neuroinflammation and the Singleton-Merten Syndrome: Two Faces of the Same Type I Interferonopathy Spectrum.
 

Author(s): Insa Buers, Gillian I Rice, Yanick J Crow, Frank Rutsch

Journal: J. Interferon Cytokine Res.. 2017 May;37(5):214-219.

 

In 1973, Singleton and Merten described a new syndrome in 2 female probands with aortic and cardiac valve calcifications, early loss of secondary dentition, and widened medullary cavities of the phalanges. In 1984, Aicardi and Goutières defined a phenotype resembling congenital viral ...

Last Updated: 31 Dec 1969

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Clinical Trial Information This information is provided by ClinicalTrials.gov

There are currently no open clinical trials for this condition.