Yunis-Varon syndrome

Infobox_Disease
Name = Yunis Varon syndrome


Caption =
DiseasesDB = 33830
ICD10 = ICD10|Q|87|8|q|80
ICD9 =
ICDO =
OMIM = 216340
MedlinePlus =
eMedicineSubj =
eMedicineTopic =
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Yunis-Varon syndrome (YVS)cite journal |author=Kulkarni ML, Vani HN, Nagendra K, "et al" |title=Yunis-Varon syndrome |journal=Indian J Pediatr |volume=73 |issue=4 |pages=353–5 |year=2006 |url=http://medind.nic.in/icb/t06/i4/icbt06i4p353.pdf |doi=10.1007/BF02825832] is an extremely rarecite journal |pmid=10478891 |year=1999 |month=Sep |author=Christie, J; Sacks, S; Decorato, D; Bergasa, Nv |title=Atrophy of the left lobe of the liver and anomalous hepatic vessel in a patient with Yunis-Varon syndrome |volume=29 |issue=2 |pages=210–1 |issn=0192-0790 |journal=Journal of clinical gastroenterology |doi=10.1097/00004836-199909000-00025] autosomal recessive [cite journal |pmid=18203163 |year=2008 |month=Feb |author=Basel-Vanagaite, L; Kornreich, L; Schiller, O; Yacobovich, J; Merlob, P |title=Yunis-Varon syndrome: further delineation of the phenotype |volume=146A |issue=4 |pages=532–7 |doi=10.1002/ajmg.a.32135 |journal=American journal of medical genetics. Part A] multisystem congenital disorder [ [http://www.bdid.com/yunisvaron.htm Yunis Varon Syndrome ] ] which affects the skeletal system, ectodermal tissue and cardiorespiratory systems.

Presentation

Symptoms include growth retardation before and after birth, defective growth of the bones of the skull along with complete or partial absence of the shoulder blades and characteristic facial features.cite web |url=http://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Yunis%20Varon%20Syndrome |title=Yunis-Varon syndrome |format= |work=Disease Information from NORD, National Organization for Rare Disorders, Inc. |accessdate=] Additional symptoms may include abnormalities of the fingers and/or toes.cite journal |author=Bhatia S, Holla RG |title=Yunis-Varon syndrome |journal=Indian Pediatr |volume=42 |issue=4 |pages=373–5 |year=2005 |month=Apr |pmid=15876600 |doi= |url=http://www.indianpediatrics.net/apr2005/373.pdf] In most cases, infants with this disorder experience severe feeding problems and respiratory difficulties. In addition, affected infants may have heart defects.

Genetic prevalence

This syndrome is inherited as an autosomal recessive genetic trait.cite journal |pmid=7395825 |year=1980 |month=Jul |author=Yunis, E; Varón, H |title=Cleidocranial dysostosis, severe micrognathism, bilateral absence of thumbs and first metatarsal bone, and distal aphalangia: a new genetic syndrome |volume=134 |issue=7 |pages=649–53 |issn=0002-922X |journal=American journal of diseases of children (1960) |url=http://www.nlm.nih.gov/medlineplus/headandbrainmalformations.html |format=Free full text] The disease has been described relatively recently in the 1980's and since then less than 15 cases have been reported around the world. Many of the infants did not survive beyond one year of age.

References

External Links

*RareDiseases|331|Yunis-Varon syndrome; Cleidocranial dysplasia, micrognathia, absent thumbs, & distal aphalangia