Larsen Syndrome - Genetics

Genetics

Both autosomal dominant and recessive forms of Larsen syndrome have been reported. The autosomal dominant form is significantly more common than the autosomal recessive form of Larsen syndrome. Symptoms such as syndactyly, cleft palate, short stature, and cardiac defects are seen more commonly in individuals with the autosomal recessive form of the disorder. A lethal form of the disorder has been reported. This lethal form is described as being a combination of the Larsen phenotype and pulmonary hypoplasia.