Larsen syndrome
Larsen syndrome (LS), also called Autosomal Dominant Larsen syndrome,[1] is a rare autosomal dominant[2] congenital disorder that occurs in about every 1 in 100,000 people. Its symptoms include hypermobility, congenital dislocations, brachycephaly and cleft palate.
The condition was first described in a 1950 journal report by L. J. Larsen, et al.[3]
Genetics
Larsen syndrome is caused by mutations in the FLNB (Filamin B) gene.[2]
Symptoms
A more complete list of symptoms includes:
- 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
See also
External links
References
- ↑ Online Mendelian Inheritance in Man (OMIM) 150250
- ↑ 2.0 2.1 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 (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. PMID 16801345. Unknown parameter
|month=ignored (help) - ↑ Larsen LJ, Schottstaedt ER, Bost FC (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. Unknown parameter
|month=ignored (help)
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