Fryns Syndrome

Common Name(s)

Fryns Syndrome

Fryns syndrome is a condition that affects the development of many parts of the body. Signs and symptoms vary widely among affected individuals. Many affected individuals have a defect in the diaphragm muscle such as a congenital diaphragmatic hernia (a hole in the diaphragm present at birth). This may allow the stomach and intestines to move into the chest, which can result in pulmonary hypoplasia (underdevelopment of the lungs). Other signs and symptoms may include abnormalities of the fingers and toes; distinctive facial features; severe developmental delay and intellectual disability; and abnormalities of the brain, cardiovascular system, gastrointestinal system, kidneys, and genitalia. Most affected individuals die before birth or in early infancy. The cause of the condition is not known, but it is thought to be genetic and appears to be inherited in an autosomal recessive manner.
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Fryns 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 "Fryns Syndrome" returned 15 free, full-text research articles on human participants. First 3 results:

Marfanoid features and X-linked mental retardation associated with craniofacial abnormalities: the Lujan-Fryns syndrome.
 

Author(s): Paula Macedo Dieckmann, Lara Carneiro de Lucena, Lívia Almeida Dutra, José Luiz Pedroso, Orlando G P Barsottini

Journal: Arq Neuropsiquiatr. 2013 Jan;71(1):68-9.

 

Last Updated: 22 Jan 2013

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Congenital diaphragmatic hernia and microtia in a newborn with mycophenolate mofetil (MMF) exposure: phenocopy for Fryns syndrome or broad spectrum of teratogenic effects?
 

Author(s): Melissa A Parisi, Hatem Zayed, Anne M Slavotinek, Joe C Rutledge

Journal: Am. J. Med. Genet. A. 2009 Jun;149A(6):1237-40.

 

A newborn female infant born to a woman on immunosuppressive medications including mycophenolate mofetil (MMF) for a renal graft secondary to lupus nephritis presented with congenital diaphragmatic hernia (CDH) and additional findings of microtia, esophageal atresia with tracheoesophageal ...

Last Updated: 2 Jun 2009

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Fryns syndrome: a lethal mesoectodermal birth defect with variable expression in a pair of monozygotic twins.
 

Author(s): A Pratap, A Agrawal, S Raja, S Khaniya, A Tiwari, A Kumar

Journal: Singapore Med J. 2007 Apr;48(4):e106-8.

 

We report a pair of twins with variable expressions of Fryns syndrome, both of whom died in the neonatal period. The syndrome is characterised by craniofacial dysmorphism, diaphragmatic hernia and distal limb hypoplasia. With this report, there are a total of 83 cases reported in ...

Last Updated: 26 Mar 2007

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

Lujan-Fryns syndrome (mental retardation, X-linked, marfanoid habitus).
 

Author(s): Griet Van Buggenhout, Jean-Pierre Fryns

Journal:

 

The Lujan-Fryns syndrome or X-linked mental retardation with marfanoid habitus syndrome is a syndromal X-linked form of mental retardation, affecting predominantly males. The prevalence is not known for the general population. The syndrome is associated with mild to moderate mental ...

Last Updated: 10 Aug 2006

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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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