Yunis–Varon syndrome

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.

Yunis–Varon syndrome
Other namesCleidocranial dysplasia with micrognathia, absent thumbs and distal aphalangia
Yunis–Varon syndrome has an autosomal recessive pattern of inheritance.
SpecialtyMedical genetics 

Presentation

Features 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.

Genetics

This syndrome is inherited in an autosomal recessive manner.[4][8]

Diagnosis

Treatment

Early intervention is considered important. For infants, breathing and feeding difficulties, are monitored. Therapies used are "symptomatic and supportive."[9]

Epidemiology

YVS 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]

References
  1. Online Mendelian Inheritance in Man (OMIM) 216340
  2. Kulkarni ML, Vani HN, Nagendra K, et al. (2006). "Yunis-Varon syndrome" (PDF). Indian J Pediatr. 73 (4): 353–355. doi:10.1007/BF02825832. PMID 16816498.
  3. Christie, J; Sacks, S; Decorato, D; Bergasa, Nv (Sep 1999). "Atrophy of the left lobe of the liver and anomalous hepatic vessel in a patient with Yunis-Varon syndrome". Journal of Clinical Gastroenterology. 29 (2): 210–211. doi:10.1097/00004836-199909000-00025. PMID 10478891.
  4. Basel-Vanagaite, L; Kornreich, L; Schiller, O; Yacobovich, J; Merlob, P (Feb 2008). "Yunis-Varon syndrome: further delineation of the phenotype". American Journal of Medical Genetics Part A. 146A (4): 532–537. doi:10.1002/ajmg.a.32135. PMID 18203163.
  5. Yunis Varon Syndrome
  6. "Yunis-Varon syndrome". Disease Information from NORD, National Organization for Rare Disorders, Inc.
  7. Bhatia S, Holla RG (Apr 2005). "Yunis-Varon syndrome" (PDF). Indian Pediatr. 42 (4): 373–375. PMID 15876600.
  8. Yunis, E; Varón, H (July 1980). "Cleidocranial dysostosis, severe micrognathism, bilateral absence of thumbs and first metatarsal bone, and distal aphalangia: a new genetic syndrome" (Free full text). American Journal of Diseases of Children. 134 (7): 649–53. doi:10.1001/archpedi.1980.02130190017005. ISSN 0002-922X. PMID 7395825.
  9. "Yunis Varon Syndrome". NORD (National Organization for Rare Disorders). Retrieved 2016-03-01.
Classification
External resources
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