Myhre syndrome

Common Name(s)

Myhre syndrome

Myhre syndrome is a rare inherited disorder characterized by intellectual disability, short stature, unusual facial features, and various bone (skeletal) abnormalities. Other findings may include hearing impairment, abnormal enlargement of the muscles (muscle hypertrophy), and/or joint stiffness. Myhre syndrome is caused by mutations in the SMAD4 gene. This condition is inherited in an autosomal dominant pattern. Most cases are due to a new mutation.
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Myhre 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 "Myhre syndrome" returned 2 free, full-text research articles on human participants. First 3 results:

SMAD4 mutations causing Myhre syndrome result in disorganization of extracellular matrix improved by losartan.
 

Author(s): Pasquale Piccolo, Pratibha Mithbaokar, Valeria Sabatino, John Tolmie, Daniela Melis, Maria Cristina Schiaffino, Mirella Filocamo, Generoso Andria, Nicola Brunetti-Pierri

Journal: Eur. J. Hum. Genet.. 2014 Aug;22(8):988-94.

 

Myhre syndrome (MS, MIM 139210) is a connective tissue disorder that presents with short stature, short hands and feet, facial dysmorphic features, muscle hypertrophy, thickened skin, and deafness. Recurrent missense mutations in SMAD4 encoding for a transducer mediating transforming ...

Last Updated: 17 Jul 2014

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A restricted spectrum of mutations in the SMAD4 tumor-suppressor gene underlies Myhre syndrome.
 

Author(s): Viviana Caputo, Luciano Cianetti, Marcello Niceta, Claudio Carta, Andrea Ciolfi, Gianfranco Bocchinfuso, Eugenio Carrani, Maria Lisa Dentici, Elisa Biamino, Elga Belligni, Livia Garavelli, Loredana Boccone, Daniela Melis, Generoso Andria, Bruce D Gelb, Lorenzo Stella, Margherita Silengo, Bruno Dallapiccola, Marco Tartaglia

Journal: Am. J. Hum. Genet.. 2012 Jan;90(1):161-9.

 

Myhre syndrome is a developmental disorder characterized by reduced growth, generalized muscular hypertrophy, facial dysmorphism, deafness, cognitive deficits, joint stiffness, and skeletal anomalies. Here, by performing exome sequencing of a single affected individual and coupling ...

Last Updated: 16 Jan 2012

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

Myhre syndrome: new reports, review, and differential diagnosis.
 

Author(s): L Burglen, D Héron, A Moerman, A Dieux-Coeslier, J-P Bourguignon, A Bachy, J-C Carel, V Cormier-Daire, S Manouvrier, A Verloes

Journal: J. Med. Genet.. 2003 Jul;40(7):546-51.

 

Last Updated: 4 Jul 2003

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Clinical Trial Information This information is provided by ClinicalTrials.gov

There are currently no open clinical trials for this condition.