How Common Is Legius Syndrome?

Frequency. The prevalence of Legius syndrome is unknown. Many individuals with this disorder are likely misdiagnosed because the signs and symptoms of Legius syndrome are similar to those of neurofibromatosis type 1

neurofibromatosis type 1

Neurofibromatosis type 1 is considered to have an autosomal dominant pattern of inheritance. People with this condition are born with one mutated copy of the NF1 gene in each cell. In about half of cases, the altered gene is inherited from an affected parent .

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How many cases of Legius syndrome are there?

The prevalence of Legius syndrome is estimated at 1:46,000-1:75,000 based on the fraction of children with a SPRED1 pathogenic variant in cohorts of children followed at NF clinics [Messiaen et al 2009, Pasmant et al 2015b, Evans et al 2016, Giugliano et al 2019].

Is NF1 considered a rare disease?

NF1 is a rare disorder that affects males and females in equal numbers. NF1 affects all races and ethnic groups equally and is estimated to occur in 1 in 2,500 to 3,000 births.