| 词条 | Yunis–Varon syndrome |
| 释义 |
| name = Yunis–Varon syndrome | synonyms = | image = Autosomal recessive - en.svg | caption = Yunis–Varon syndrome has an autosomal recessive pattern of inheritance. | pronounce = | field = | symptoms = | complications = | onset = | duration = | types = | causes = | risks = | diagnosis = | differential = | prevention = | treatment = | medication = | prognosis = | frequency = | deaths = }} Yunis–Varon syndrome (YVS), also called cleidocranial dysplasia with micrognathia, absent thumbs and distal aphalangia,[1][2] is an extremely rare[3] autosomal recessive[4] multisystem congenital disorder[5] which affects the skeletal system, ectodermal tissue, heart and respiratory system. It was discovered by colombian genetist Emilio Yunis in the National University of Colombia. CharacteristicsFeatures of YVS 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.[3][6] Additional symptoms may include abnormalities of the fingers and/or toes.[6][7] In most cases, infants with this disorder experience severe feeding problems and respiratory difficulties. In addition, affected infants may have heart defects. GeneticsThis syndrome is inherited in an autosomal recessive manner.[4][8] Diagnosis{{Empty section|date=August 2017}}TreatmentEarly intervention is considered important. For infants, breathing and feeding difficulties, are monitored. Therapies used are "symptomatic and supportive."[9] EpidemiologyYVS has been described relatively recently in the 1980s 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.[7][8] References1. ^{{OMIM|216340}} 2. ^{{cite journal |vauthors=Kulkarni ML, Vani HN, Nagendra K, etal |title=Yunis-Varon syndrome |journal=Indian J Pediatr |volume=73 |issue=4 |pages=353–355 |year=2006 |url=http://medind.nic.in/icb/t06/i4/icbt06i4p353.pdf |format=PDF|doi=10.1007/BF02825832 |pmid=16816498}} 3. ^1 {{cite journal |pmid=10478891 |date=Sep 1999 |author=Christie, J |author2=Sacks, S |author3=Decorato, D |author4=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=210–211 |journal=Journal of Clinical Gastroenterology |doi=10.1097/00004836-199909000-00025}} 4. ^1 {{cite journal |pmid=18203163 |date=Feb 2008 |author=Basel-Vanagaite, L |author2=Kornreich, L |author3=Schiller, O |author4=Yacobovich, J |author5=Merlob, P |title=Yunis-Varon syndrome: further delineation of the phenotype |volume=146A |issue=4 |pages=532–537 |doi=10.1002/ajmg.a.32135 |journal=American Journal of Medical Genetics Part A}} 5. ^Yunis Varon Syndrome 6. ^1 {{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=}} 7. ^1 {{cite journal |vauthors=Bhatia S, Holla RG |title=Yunis-Varon syndrome |journal=Indian Pediatr |volume=42 |issue=4 |pages=373–375 |date=Apr 2005 |pmid=15876600 |url=http://www.indianpediatrics.net/apr2005/373.pdf|format=PDF}} 8. ^1 {{cite journal |pmid=7395825 |date=July 1980 |author=Yunis, E |author2=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 |url=https://www.nlm.nih.gov/medlineplus/headandbrainmalformations.html |format=Free full text |doi=10.1001/archpedi.1980.02130190017005}} 9. ^{{Cite web| url = https://rarediseases.org/rare-diseases/yunis-varon-syndrome/| title = Yunis Varon Syndrome| website = NORD (National Organization for Rare Disorders)| language = en-US| access-date = 2016-03-01}} External links{{Medical resources| DiseasesDB = 33830 | ICD10 = {{ICD10|Q|87|8|q|80}} | ICD9 = | ICDO = | OMIM = 216340 | Orphanet = 3472 | MedlinePlus = | eMedicineSubj = | eMedicineTopic = | MeshID = }}
4 : Autosomal recessive disorders|Rare diseases|Syndromes|Genetic disorders with OMIM but no gene |
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