- Micro syndrome
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Micro syndrome Classification and external resources OMIM 600118 Micro Syndrome also known as WARBM, and Warburg Sjo Fledelius Syndrome, is a rare autosomal recessive genetic disorder characterized by microcephaly, microcornea, congenital cataract, mental retardation, optic atrophy, and hypogenitalism.[1]
Contents
Genetics
The rare cases that have been examined are often within families, or the people that have cases of Micro Syndrome have a mutation in their genes.
It can be associated with RAB3GAP.[2]
Presentation and diagnosis
Micro Syndrome can be identified in people several ways, one of the most common is ocular problems or other physical traits that don't appear natural. It is especially easy to identify Micro Syndrome in infants and in younger children. Mental retardation can seriously affect a patient in the way they think and move. So far according to studies all patients have had serious mental retardation, and hypotonia is found in all the patients during infancy.
Treatment
There is no specific treatment for Micro Syndrome, but there are ways to help the disorders, and illnesses that come with it. Many victims of Micro Syndrome need permanent assistance from their disorders and inabilities to move and support themselves. Seizures are not uncommon and patients should get therapy to help control them, and many patients also require wheelchairs to move, so an assistant would be needed at all times.[3]
Victims of Micro Syndrome are born appearing normal with slight hints of retardation. At the age of one, mental and physical retardation has started to show, along with some limb spasms. By the age of eight Micro Syndrome has already set in, and the patient will have joint contractures, Ocular Atrophy will become noticeable, the patient will most likely lose ability to walk, speak, and sometimes move at all.
References
- ^ "WARBURG Micro Syndrome." http://www.ncbi.nlm.nih.gov/ 10 Mar. 2008 <http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600118>.
- ^ Morris-Rosendahl DJ, Segel R, Born AP, et al. (October 2010). "New RAB3GAP1 mutations in patients with Warburg Micro Syndrome from different ethnic backgrounds and a possible founder effect in the Danish". Eur. J. Hum. Genet. 18 (10): 1100–6. doi:10.1038/ejhg.2010.79. PMID 20512159.
- ^ "Micro Syndrome." http://www.orpha.net 13 Mar. 2008 <http://www.orpha.net/data/patho/GB/uk-MicroSyndrome.pdf>.
Categories:- Autosomal recessive disorders
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