Keutel syndrome

Common Name(s)

Keutel syndrome

Keutel syndrome is an inherited condition characterized by cartilage calcification in the ears, nose, larnyx, trachea (voice box), and ribs; pulmonary artery stenoses; brachytelephalangism (short fingers and nails that resemble drumsticks); and facial dysmorphism. Less than 30 cases have been reported in the literature. The majority of affected individuals have been diagnosed during childhood. Other associated features may include hearing loss, recurrent otitis and/or sinusitis, mild intellectual disability, frequent respiratory infections, nasal speech and rarely, seizures, and short stature. This condition is inherited in an autosomal recessive fashion and is caused by mutations in the MGP gene.
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Keutel 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 "Keutel syndrome" returned 5 free, full-text research articles on human participants. First 3 results:

Long term follow-up of four patients with Keutel syndrome.
 

Author(s): H E Khosroshahi, S C Sahin, Y Akyuz, H Ede

Journal: Am. J. Med. Genet. A. 2014 Nov;164A(11):2849-56.

 

Keutel syndrome (KS) [OMIM 245150] is an autosomal recessive hereditary syndrome characterized by multiple peripheral pulmonary stenoses (PPS), brachytelephalangia, inner ear deafness, and abnormal cartilage ossification or calcification. Mutations in the matrix Gla protein (MGP) ...

Last Updated: 20 Oct 2014

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Tracheobronchial stenosis in Keutel syndrome.
 

Author(s): Li-Feng Sun, Xing Chen

Journal: Indian Pediatr. 2012 Sep;49(9):759.

 

Last Updated: 1 Oct 2012

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Circulating matrix γ-carboxyglutamate protein (MGP) species are refractory to vitamin K treatment in a new case of Keutel syndrome.
 

Author(s): E C M Cranenburg, K Y VAN Spaendonck-Zwarts, L Bonafe, L Mittaz Crettol, L A Rödiger, F G Dikkers, A J VAN Essen, A Superti-Furga, E Alexandrakis, C Vermeer, L J Schurgers, G D Laverman

Journal: J. Thromb. Haemost.. 2011 Jun;9(6):1225-35.

 

 Matrix γ-carboxyglutamate protein (MGP), a vitamin K-dependent protein, is recognized as a potent local inhibitor of vascular calcification. Studying patients with Keutel syndrome (KS), a rare autosomal recessive disorder resulting from MGP mutations, provides an opportunity to ...

Last Updated: 7 Jun 2011

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Reviews from the PubMed Database

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

 
 
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Symptoms, Diagnosis, and Treatment

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Clinical Trial Information This information is provided by ClinicalTrials.gov

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