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 3 free, full-text research articles on human participants. First 3 results:

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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Tracheobronchial calcification associated with Keutel syndrome.
 

Author(s): Nihal Ozdemir, Refika Ersu, Figen Akalin, Bülent Karadag, Arif Kut, Fazilet Karakoç, Nursel Elçioglu, Elif Dagli

Journal: Turk. J. Pediatr.. ;48(4):357-61.

 

Tracheobronchial cartilage calcification is an unusual radiologic finding in infants and children under 15 years old. Keutel syndrome is a rare, autosomal recessive disorder characterized by diffuse cartilage calcification, brachytelephalangia, pulmonary stenosis and midfacial hypoplasia. ...

Last Updated: 12 Feb 2007

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Tracheobronchial stenosis in Keutel syndrome.
 

Author(s): M Meier, L P Weng, E Alexandrakis, J Rüschoff, G Goeckenjan

Journal: Eur. Respir. J.. 2001 Mar;17(3):566-9.

 

In 1971 Keutel et al. described a new syndrome in two siblings presenting with peripheral pulmonary stenoses, brachytelephalangism, neural hearing loss and abnormal cartilage calcification. Recent investigations provided evidence that mutations in the gene encoding the human matrix ...

Last Updated: 14 Jun 2001

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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 "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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