Synonyms: MECP2 duplication syndrome | X-linked intellectual disability syndrome, Lubs type
A rare X-linked genomic disorder associated with interstitial chromosomal duplications at Xq28 encompassing the MECP2 gene. It is characterized in males by infantile onset hypotonia severe global developmental delay intellectual disability progressive spasticity seizures gastrointestinal symptoms and recurrent respiratory infections. In females the phenotype is more variable.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview. Reference: Access aggregated data from Orphanet at Orphadata. Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version April 2026
Newly diagnosed with
Proximal Xq28 duplication syndrome?
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Advocacy Organizations
Lasst uns MDS heilen
Our NPO, based in Austria is dedicating in advancing MECP2 Duplication Syndrome research and inform families. Our missions are: -Accelerate research projects via funding, collaboration, project branding -Inform families about research progresses, adapted therapies and support them psychologically -Raise awareness of rare diseases in general by organisaing events, posting on social media.
MECP2 Duplication Foundation
The MECP2 Duplication Foundation is committed to providing support and reliable information for families facing a MECP2 Duplication Syndrome (MDS) diagnosis, increasing awareness of the disorder, and funding cutting-edge research that will one day treat those affected and enhance their quality of life.
PPP2CA Pathways
PPP2CA Pathways connects families, shares strength, and supports the research community in the search for answers to Houge-Janssens Syndrome type 3.
Rare Chromosome Disorder Support Group – Unique
Through sharing knowledge and lived experience, Unique helps families and professionals navigate the world of chromosome and gene disorders
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Clinical Trials
For a list of clinical trials in this disease area, please click here.