Larsen Syndrome
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.