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Diseases

Genetic and Rare Diseases Information Center (GARD)

Yunis-Varon syndrome


Other Names for this Disease
  • Cleidocranial dysplasia, micrognathia, absent thumbs, & distal aphalangia
  • Yunis-Varón syndrome
  • Yunis Varon syndrome
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Overview

Yunis-Varon syndrome is a rare condition that affects many different parts of the body. Signs and symptoms are generally present from birth and may include underdeveloped or absent collarbones (clavicles); large fontanelles; characteristic facial features; hypotonia (reduced muscle tone) and/or abnormalities of the fingers and toes. Affected people may also experience feeding difficulties, breathing problems, brain malformations, heart defects, skeletal abnormalities, developmental delay, and/or intellectual disability.[1][2] Yunis-Varon syndrome is caused by changes (mutations) in the FIG4 gene and is inherited in an autosomal recessive manner.[3][4] Treatment is based on the signs and symptoms present in each person.[1][4]
Last updated: 4/13/2016

References

  1. Varghese P, Collins N, Warner G, Leitch J, Ho E & Crock P. Yunis-varon syndrome: further delineation of cardiovascular and endocrine outcome. Am J Med Genet A. May, 2014; 164A(5)::1213-7. http://www.ncbi.nlm.nih.gov/pubmed/24610892.
  2. Yunis Varon Syndrome. WebMD. 2015; http://www.webmd.com/children/yunis-varon-syndrome.
  3. Bharadwaj R, Cunningham KM, Zhang K & Lloyd TE. IG4 regulates lysosome membrane homeostasis independent of phosphatase function. Hum Mol Genet. February 15, 2016; 25(4):681-92. http://www.ncbi.nlm.nih.gov/pubmed/26662798.
  4. Campeau PM. Yunis-Varón Syndrome Is Caused by Mutations in FIG4, Encoding a Phosphoinositide Phosphatase. Am J Hum Genet. May 2, 2013; 92(5):781-791. http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3644641/.
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Basic Information

  • The National Organization for Rare Disorders (NORD) is a federation of more than 130 nonprofit voluntary health organizations serving people with rare disorders. Click on the link to view information on this topic.

In Depth Information

  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Yunis-Varon syndrome. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • Cleidocranial dysplasia, micrognathia, absent thumbs, & distal aphalangia
  • Yunis-Varón syndrome
  • Yunis Varon syndrome
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.