3-M Syndrome - Symptoms

Symptoms

3-M syndrome is an extremely rare inherited disorder that appears to affect males and females in equal numbers. Approximately 25 cases have been reported in the medical literature since the disorder was first described in 1972. The name "3-M syndrome" refers to the last initials of three researchers (J.D. Miller, V.A. McKusick, P. Malvaux) who were among the first to identify the disorder and report their findings in the medical literature. Many of the symptoms and physical features associated with the disorder are apparent at birth (congenital). In some cases, individuals who carry a single copy of the disease gene (heterozygotes) may exhibit mild symptoms associated with 3-M syndrome.

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