Larsen syndrome
5266918
204435712
2008-04-09T12:23:08Z
Arcadian
104523
infobox
{{unreferenced|date=April 2008}}
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| DiseasesDB = 32807
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| OMIM = 150250
| OMIM_mult = {{OMIM2|245600}}
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'''Larsen Syndrome (LS)''' is a rare [[autosomal]] [[dominant]] genetic disease that occurs in about every 1 in 100,000 people. Its symptoms include [[hypermobility]], congenital dislocations, [[brachycephaly]] and [[cleft palate]].
The full descriptor of LS is '''Autosomal Dominant Larsen Syndrome'''. The condition was first described in a 1952 article by L. J. Larsen, et al.
[[Image:autodominant.jpg|thumb|right|{{PAGENAME}} has an autosomal dominant pattern of [[inheritance]].]]
==Symptoms==
A more complete list of symptoms includes:<br>
*Multiple joint dislocations
*Foot deformities
*Non-tapering, cylindrical shaped fingers
*Unusual facial appearance
*Less commonly occurring:
**Short stature
**Additional skeletal abnormalities
**[[Cleft palate]]
**Heart defects
**Hearing impairment
**[[Mental retardation]]
A similar syndrome, known as [[Desbuquois syndrome]], has been mapped to a different gene locus.
==See also==
* [[FLNB]]
==External links==
* [http://www.cedars-sinai.edu/6015.html Cedars-Sinai Entry]
* [http://www.webmd.com/hw/raising_a_family/nord497.asp WebMD Abstract]
{{Congenital malformations and deformations of musculoskeletal system}}
{{Genetic-disorder-stub}}
[[Category:Genetic disorders]]
[[Category:Orthopedics]]
[[Category:Pediatrics]]
[[Category:Rare diseases]]
[[Category:Syndromes]]