Yunis Varon syndrome

Common Name(s)

Yunis Varon syndrome

Yunis-Varon syndrome is a severe autosomal recessive disorder characterized by skeletal defects, including cleidocranial dysplasia and digital anomalies, and severe neurologic involvement with neuronal loss. Enlarged cytoplasmic vacuoles are found in neurons, muscle, and cartilage. The disorder is usually lethal in infancy (summary by {3:Campeau et al., 2013}).
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Yunis Varon 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

Not finding the support you need? Show General Support Organizations

 
 
Top

How do you compare to others with this condition?

Privately answer questions about your health. Let resources, you select, come to you.

Anonymously share and see how your answers compare with others with this condition while privately providing key pieces of information to medical researchers, disease advocacy groups, and others ONLY YOU select to help speed up cures and better alternatives.

 
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Yunis Varon 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

Not finding the support you need? Show General Support Organizations

 
 
 
 
Top

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 "Yunis Varon syndrome" returned 6 free, full-text research articles on human participants. First 3 results:

Yunis-Varón syndrome: the first report of two Iranian cases.
 

Author(s): Zahra Hadipour, Yousef Shafeghati, Fatemeh Hadipour

Journal: Acta Med Iran. 2014 ;52(1):85-7.

 

The Yunis-Varón syndrome represents a rare autosomal recessive syndrome of easy recognition characterized by defective growth of the cranial bone along with complete or partial absence of the clavicles (cleidocranial dysplasia), absence of thumbs and halluces, distal aphalangia, ...

Last Updated: 31 Dec 1969

Go To URL
Yunis-Varón syndrome is caused by mutations in FIG4, encoding a phosphoinositide phosphatase.
 

Author(s): Philippe M Campeau, Guy M Lenk, James T Lu, Yangjin Bae, Lindsay Burrage, Peter Turnpenny, Jorge Román Corona-Rivera, Lucia Morandi, Marina Mora, Heiko Reutter, Anneke T Vulto-van Silfhout, Laurence Faivre, Eric Haan, Richard A Gibbs, Miriam H Meisler, Brendan H Lee

Journal: Am. J. Hum. Genet.. 2013 May;92(5):781-91.

 

Yunis-Varón syndrome (YVS) is an autosomal-recessive disorder with cleidocranial dysplasia, digital anomalies, and severe neurological involvement. Enlarged vacuoles are found in neurons, muscle, and cartilage. By whole-exome sequencing, we identified frameshift and missense mutations ...

Last Updated: 31 Dec 1969

Go To URL
[Yunis-Varon syndrome: a case report].
 

Author(s): Ricardo Elizondo-Dueñaz, Gerardo Rivera-Silva, Hernán Marcos Abdala, Marcelo López-Altamirano, Héctor R Martínez-Menchaca

Journal: Gac Med Mex. ;148(1):81-2.

 

In 1980, Yunis-Varon described this disease. Yunis-Varon syndrome is a rare autosomal recessive disease. This cleidocranial dysplasia is characterized by bone and tooth disorders, in addition tends to affect the cardiovascular system and tissues from ectoderm. This report describes ...

Last Updated: 31 Dec 1969

Go To URL

Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Yunis Varon syndrome" returned 1 free, full-text review articles on human participants. First 3 results:

Congenital heart malformation in Yunis-Varón syndrome.
 

Author(s): L C Adès, L L Morris, M Richardson, C Pearson, E A Haan

Journal: J. Med. Genet.. 1993 Sep;30(9):788-92.

 

We describe a male infant with Yunis-Varón syndrome who has tetralogy of Fallot. This appears to be the first case of Yunis-Varón syndrome associated with congenital heart malformation.

Last Updated: 31 Dec 1969

Go To URL
 
 
 
 
Top

Clinical Trial Information This information is provided by ClinicalTrials.gov

There are currently no open clinical trials for this condition.