Yunis-Varon syndrome
| Yunis Varon syndrome | |
| ICD-10 | Q87.8 |
|---|---|
| OMIM | 216340 |
| DiseasesDB | 33830 |
Overview
Yunis-Varon syndrome (YVS)[1] is an extremely rare[2] autosomal recessive[3] multisystem congenital disorder[4] 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.[2][5] Additional symptoms may include abnormalities of the fingers and/or toes.[5][6] 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.[5][7] The disease 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][6]
References
- ↑ Kulkarni ML, Vani HN, Nagendra K; et al. (2006). "Yunis-Varon syndrome" (PDF). Indian J Pediatr. 73 (4): 353–5. doi:10.1007/BF02825832.
- ↑ 2.0 2.1 Christie, J; Sacks, S; Decorato, D; Bergasa, Nv (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): 210–1. doi:10.1097/00004836-199909000-00025. PMID 10478891. Unknown parameter
|month=ignored (help) - ↑ Basel-Vanagaite, L; Kornreich, L; Schiller, O; Yacobovich, J; Merlob, P (2008). "Yunis-Varon syndrome: further delineation of the phenotype". American journal of medical genetics. Part A. 146A (4): 532–7. doi:10.1002/ajmg.a.32135. PMID 18203163. Unknown parameter
|month=ignored (help) - ↑ Yunis Varon Syndrome
- ↑ 5.0 5.1 5.2 "Yunis-Varon syndrome". Disease Information from NORD, National Organization for Rare Disorders, Inc.
- ↑ 6.0 6.1 Bhatia S, Holla RG (2005). "Yunis-Varon syndrome" (PDF). Indian Pediatr. 42 (4): 373–5. PMID 15876600. Unknown parameter
|month=ignored (help) - ↑ 7.0 7.1 Yunis, E; Varón, H (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 (1960). 134 (7): 649–53. ISSN 0002-922X. PMID 7395825. Unknown parameter
|month=ignored (help)
External links
Template:Phakomatoses and other congenital malformations not elsewhere classified