| Vici syndrome |
| Classification and external resources |
| OMIM |
242840 |
Vici syndrome, also called immunodeficiency with cleft lip/palate, cataract, hypopigmentation and absent corpus callosum,[1] is a rare autosomal recessive[2] congenital disorder characterized by albinism, agenesis of the corpus callosum, cataracts, cardiomyopathy, severe psychomotor retardation, seizures, immunodeficiency, and recurrent severe infections.[3]
[edit] Genetics
Vici syndrome has an autosomal recessive pattern of inheritance.
Vici syndrome is believed to be inherited in an autosomal recessive manner.[2] This means the defective gene responsible for the disorder is located on an autosome, and two copies of the defective gene (one inherited from each parent) are required in order to be born with the disorder. The parents of an individual with an autosomal recessive disorder both carry one copy of the defective gene, but usually do not experience any signs or symptoms of the disorder.
[edit] Eponym
Vici syndrome was first described by Carlo Dionisi-Vici et al. (Rome, Italy) in an article from 1988 about two brothers with a previously unreported disorder.[3] Since then, a few articles have reported the same disorder, which subsequently obtained the name Vici syndrome.[4][2]
[edit] References
- ^ Online 'Mendelian Inheritance in Man' (OMIM) 242840
- ^ a b c Chiyonobu T, Y. T.; Yoshihara, T.; Fukushima, Y.; Yamamoto, Y.; Tsunamoto, K.; Nishimura, Y.; Ishida, H.; Toda, T. et al (April 2002). "Sister and brother with Vici syndrome: Agenesis of the corpus callosum, albinism, and recurrent infections". American Journal of Medical Genetics 109 (1): 61–66. doi:10.1002/ajmg.10298. PMID 11932994. edit
- ^ a b Vici CD, Sabetta G, Gambarara M, et al. (1988). "Agenesis of the corpus callosum, combined immunodeficiency, bilateral cataract, and hypopigmentation in two brothers". Am. J. Med. Genet. 29 (1): 1–8. doi:10.1002/ajmg.1320290102. PMID 3344762.
- ^ del Campo M, Hall BD, Aeby A, et al. (1999). "Albinism and agenesis of the corpus callosum with profound developmental delay: Vici syndrome, evidence for autosomal recessive inheritance". Am. J. Med. Genet. 85 (5): 479–485. doi:10.1002/(SICI)1096-8628(19990827)85:5<479::AID-AJMG9>3.0.CO;2-D. PMID 10405446.
