Larsen syndrome

Larsen syndrome
Larsen syndrome
Classification and external resources
OMIM 150250 245600
DiseasesDB 32807

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]

It is caused by a resistance to Growth hormone (GH) secondary to a defect in GH receptors. Investigations reveal high levels of GH and low levels of Insulin like growth factor-1 (IGF-1).

Contents

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:
    • Short stature
    • Additional skeletal abnormalities
    • Cleft palate
    • Heart defects
    • Hearing impairment
    • Mental retardation
    • Pulmonary hypoplasia

Resources: www.cleftsmile.org Cleft Lip and Palate Foundation of Smiles

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.

See also

External links

References

  1. ^ 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. 
  2. ^ Online 'Mendelian Inheritance in Man' (OMIM) 150250
  3. ^ Online 'Mendelian Inheritance in Man' (OMIM) 245600
  4. ^ 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. 
v · d · eCongenital malformations and deformations of musculoskeletal system / musculoskeletal abnormality (Q65–Q76, 754–756.3)
Appendicular
limb / dysmelia
hand deformity:
Lower
hip:
Genu valgum · Genu varum · Genu recurvatum · Discoid meniscus · Congenital patellar dislocation · Congenital knee dislocation
foot deformity:
varus (Club foot / Pigeon toe) · valgus (Flat feet) · Pes cavus · Rocker bottom foot · Hammer toe
Either / both
dactyly / digit:
reduction deficits / limb:
Acheiropodia · ectromelia (Phocomelia · Amelia · Hemimelia)
multiple joints:
Arthrogryposis · Larsen syndrome · Rapadilino syndrome
Axial
Craniofacial dysostosis:
Crouzon syndrome · Hypertelorism · Hallermann-Streiff syndrome · Treacher-Collins syndrome
other:
spinal curvature (Scoliosis) · Klippel-Feil syndrome · Spondylolisthesis · Spina bifida occulta · Sacralization
Thoracic skeleton
sternum:

M: JNT

anat(h/c, u, t, l)/phys

noco(arth/defr/back/soft)/cong, sysi/epon, injr

proc, drug(M01C, M4)
v · d · eCytoskeletal defects
Microfilaments
Other
Fibrillin (Marfan syndrome, Weill-Marchesani syndrome, ) · Filamin (FG syndrome 2, Boomerang dysplasia, Larsen syndrome, Terminal osseous dysplasia with pigmentary defects)
IF
1/2
3
4
5
Microtubules
Primary ciliary dyskinesia · Short rib-polydactyly syndrome 3 · Asphyxiating thoracic dysplasia 3
Other
Tauopathy · Cavernous venous malformation
Membrane
Catenin
Other

desmoplakin: Striate palmoplantar keratoderma 2 · Carvajal syndrome · Arrhythmogenic right ventricular dysplasia 8

plectin: Epidermolysis bullosa simplex with muscular dystrophy · Epidermolysis bullosa simplex of Ogna

plakophilin: Skin fragility syndrome · Arrhythmogenic right ventricular dysplasia 9

centrosome: PCNT (Microcephalic osteodysplastic primordial dwarfism type II)
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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Look at other dictionaries:

  • Larsen syndrome — Lar·sen syndrome (lahrґsən) [Loren Joseph Larsen, American orthopedic surgeon, 1914–2002] see under syndrome …   Medical dictionary

  • Larsen syndrome — a rare syndrome of variable inheritance, characterized by cleft palate, flattened facies, multiple congenital bone dislocations, and foot deformities …   Medical dictionary

  • Syndrome de larsen — Autre nom {{{Autre nom}}} Référence MIM 1 …   Wikipédia en Français

  • Helweg-Larsen syndrome — Hel·weg Lar·sen syndrome (helґveg lahrґsən) [Hans Frederik Helweg Larsen, Danish dermatologist and geneticist, 1917–1969] see under syndrome …   Medical dictionary

  • Helweg-Larsen syndrome — an autosomal dominant syndrome consisting of anhidrosis present from birth and labyrinthitis later in life …   Medical dictionary

  • Syndrome de Larsen — Référence MIM 150250 Transmission Dominante Chromosome 3p14.3 Gène FLNB Empreinte parentale Non …   Wikipédia en Français

  • Larsen's syndrome — Lar·sen s syndrome lär sənz n a syndrome characterized by cleft palate, flattened facies, multiple congenital joint dislocations, and deformities of the foot Larsen Loren Joseph (b 1914) American orthopedic surgeon. While he was on the staff of a …   Medical dictionary

  • Syndrome d'Asherman — image hystérosalpingographique …   Wikipédia en Français

  • syndrome — The aggregate of symptoms and signs associated with any morbid process, and constituting together the picture of the disease. SEE ALSO: disease. [G. s., a running together, tumultuous concourse; (in med.) a concurrence of symptoms, fr. syn,… …   Medical dictionary

  • Larsen — Loren J., U.S. orthopedic surgeon, *1914. See L. syndrome …   Medical dictionary

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