Definition:
Larsen syndrome is a rare autosomal dominant genetic disease. It is a rare connective tissue disorder. This medical condition is very rare with the incidence occurring only 1 in every 100,000 people. Larsen syndrome was named after L.J. Larsen, who was responsible for writing about the condition in an article for the first time during the year 1952.
Diagnosis:
X-ray would be helpful to diagnose Larsen Syndrome.
Symptoms and Signs:
Larsen syndrome is characterized and identifiable by means of the following fundamental symptoms:
* Remarkably odd facial appearance
* Non-tapering fingers that are cylindrical in shape
* Dislocation occurring in multiple joints
* Foot deformities
Some cases of Larsen syndrome manifests the following less common symptoms along with the fundamental symptoms:
* Cleft palate
* Abnormalities in the heart
* Hearing impairment
* Mental retardation
* Short stature
* Other anomalies in the skeletal aspect
* Prominent forehead
* Widely spaced eyes
* Saddle nose
* Joint hypermobility
* Kyphoscoliosis
* Fused carpal and tarsal bone
* Broad thumbs
* Undescended testes
* Ocular hypertelorism
* Cleft lift may also occur in some patients
Causes:
Larsen syndrome is a rare autosomal dominant genetic disease; the causal factor is somewhere in the genes but is not yet clearly established.
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