MECP2 duplication syndrome is a rare neurodevelopmental condition caused by an extra copy (duplication) of the MECP2 gene. The disorder can cause a wide range of symptoms with varying severity.

Access information and resources so you can learn more about MECP2 Duplication Syndrome and navigate your child’s care. What is MECP2 Duplication Syndrome? MECP2 Duplication Syndrome is a rare neurogenetic disorder. It is usually found in males, although cases have been found in females.

MECP2 duplication syndrome (MDS) is a neurological and developmental disorder. Learn more about MECP2 duplication syndrome symptoms, causes and treatment.

Mar 22, 2017 · MECP2 duplication syndrome is caused by a genetic abnormality in which a portion of the X chromosome appears two times on one of the X chromosomes (duplication) instead of once. By definition, the affected region always contains the methyl-CpG-binding protein 2 ( MECP2 ) gene.

Oct 3, 2001 · Each child of a female proband with a MECP2 disorder has a 50% chance of inheriting the MECP2 pathogenic variant. Females with more severe MECP2 disorders do not reproduce; mildly affected females have reproduced.

Jan 18, 2008 · MECP2 duplication syndrome is 100% penetrant in males. Occasionally females have been described with a MECP2 duplication and a range of findings from mild intellectual disability to a phenotype similar to that seen in males.

Children affected by MECP2 duplication usually have low muscle tone and strength beginning as infants. They have delays in mental development, speech development and motor development. About three-fourths of the children affected have recurrent lung infections and this is the leading cause of death. 50% of males do die before the age of 25 ...

In this review, we detail the history, molecular diagnosis, epidemiology, and clinical features of the MECP2 duplication syndrome, including considerations for the care of patients with this X-linked neurodevelopmental disorder.

Your child has been diagnosed with MECP2 Duplication Syndrome, so what comes next? We recommend that you read our brief overview of the disorder, contact a family support representative, and register for more information.

MECP2 duplication syndrome is a condition that occurs almost exclusively in males and is characterized by moderate to severe intellectual disability. Most people with this condition also have weak muscle tone in infancy, feeding difficulties, poor or …