PMP22-RAI1 contiguous gene duplication syndrome
Synonyms: 17p11.2p12 microduplication syndrome | Dup(17)(p11.2p12) | Trisomy 17p11.2-p12 | Trisomy 17p11.2p12 | Yuan-Harel-Lupski syndrome
A rare partial duplication of the long arm of chromosome 17 characterized by a combination of features of 17p11.2 microduplication syndrome and Charcot-Marie-Tooth disease type 1A. Patients present with infantile onset of global developmental delay hypotonia feeding difficulties and failure to thrive as well as childhood onset of peripheral neuropathy with distal extremity weakness or atrophy gait impairment sensory loss reduced or absent deep tendon reflexes of the ankles and foot deformities. Facial dysmorphism cardiac and renal anomalies and syringomyelia may also be observed.
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 2024
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PMP22-RAI1 contiguous gene duplication syndrome?
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Advocacy Organizations
Charcot-Marie-Tooth Association
To develop drugs to treat or cure CMT and to help improve the quality of life for those living with CMT.
DDX3X Foundation
Our mission is to connect families, resources, and the medical community to advance research for a treatment or cure to DDX3X Syndrome. Our ultimate goal is to accelerate brain function in individuals affected by DDX3X Syndrome through advances in cell and gene therapy and pharmaceuticals.
Project CASK
To fund research for treatment and/or a cure for CASK Gene Disorder
Clinical Trials
For a list of clinical trials in this disease area, please click here.