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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

  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • 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.