Larsen's

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[hide] * 1 Symptoms * 2 Genetics * 3 See also * 4 External links * 5 References |

[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:

* Short stature

* Additional skeletal abnormalities

* Cleft palate

* Heart defects

* Hearing impairment

* Mental retardation

* Pulmonary hypoplasia

[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.

Larsen syndrome: Introduction

Larsen syndrome: A rare genetic disorder characterized by multiple joint dislocation, a flat face and short fingernails. More detailed information about the symptoms, causes, and treatments of Larsen syndrome is available below

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