Larsen syndrome (LS), is a rare usually autosomal dominant[1] congenital disorder that occurs in about every 1 in 100,000 people. Its symptoms include hypermobility, congenital dislocations, brachycephaly and cleft palate. It may rarely be recessive.[2][3]
The condition was first described in a 1950 journal report by L. J. Larsen, et al.[4]
[edit] Symptoms
Hands of a person with Larsen syndrome. Note the joint abnormalities of the left hand.
Feet of a person with Larsen syndrome. Note the small size and joint abnormalities.
A more complete list of symptoms includes:
- Multiple joint dislocations
- Foot deformities
- Non-tapering, cylindrical shaped fingers
- Unusual facial appearance
- Less commonly occurring:
Resources: www.cleftsmile.org Cleft Lip and Palate Foundation of Smiles
[edit] Genetics
Larsen syndrome has an autosomal dominant pattern of
inheritance.
Larsen syndrome is caused by mutations in the FLNB (Filamin B) gene.[1] The disorder is inherited in an autosomal dominant manner,[1] which means the defective gene responsible for a disorder is located on an autosome, and only one copy of the gene is sufficient to cause the disorder, when inherited from a parent who has the disorder.
[edit] See also
[edit] External links
[edit] References
- ^ a b c Bicknell LS, Farrington-Rock C, Shafeghati Y, Rump P, Alanay Y, Alembik Y, Al-Madani N, Firth H, Karimi-Nejad MH, Kim CA, Leask K, Maisenbacher M, Moran E, Pappas JG, Prontera P, De Ravel T, Fryns JP, Sweeney E, Fryer A, Unger S, Wilson LC, Lachman RS, Rimoin DL, Cohn DH, Krakow D, Robertson SP (Feb 2007). "A molecular and clinical study of Larsen syndrome caused by mutations in FLNB". Journal of medical genetics 44 (2): 89–98. doi:10.1136/jmg.2006.043687. PMC 2598053. PMID 16801345. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=2598053.
- ^ Online 'Mendelian Inheritance in Man' (OMIM) 150250
- ^ Online 'Mendelian Inheritance in Man' (OMIM) 245600
- ^ Larsen LJ, Schottstaedt ER, Bost FC (Oct 1950). "Multiple congenital dislocations associated with characteristic facial abnormality". The Journal of pediatrics 37 (4): 574–81. doi:10.1016/S0022-3476(50)80268-8. ISSN 0022-3476. PMID 14779259.
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| Microfilaments |
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| IF |
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| Microtubules |
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| Membrane |
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| Catenin |
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| Other |
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see also cytoskeletal proteins
B structural (perx, skel, cili, mito, nucl, sclr) · DNA/RNA/protein synthesis (drep, trfc, tscr, tltn) · membrane (icha, slcr, atpa, abct, othr) · transduction (iter, csrc, itra), trfk
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