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 (September 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.
- ↑ Basel-Vanagaite, L; Kornreich, L; Schiller, O; Yacobovich, J; Merlob, P (February 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.
- ↑ 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 (April 2005). "Yunis-Varon syndrome" (PDF). Indian Pediatr 42 (4): 373–5. PMID 15876600.
- ↑ 7.0 7.1 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 (1960) 134 (7): 649–53. ISSN 0002-922X. PMID 7395825.
External links
- Yunis-Varon syndrome; Cleidocranial dysplasia, micrognathia, absent thumbs, & distal aphalangia at NIH's Office of Rare Diseases
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