Qazi-Markouizos syndrome
Synonyms: Dysharmonic skeletal maturation-muscular fiber disproportion syndrome
A rare genetic syndromic intellectual disability disorder characterized by non-progressive congenital marked central hypotonia severe psychomotor delay and intellectual disability chronic constipation distended abdomen abnormal dermatoglyphics delayed and dysharmonic skeletal maturation and preponderance of type 2 larger-sized muscle fibers. Additional features include narrow and high-arched palate prominent nasal root long philtrum and open mouth with drooling as well as variably present cryptorchidism hypertelorism and tapered fingers. Seizures and/or an abnormal electroencephalograph may also be assoicated. There have been no further descriptions in the literature since 1994.
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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Qazi-Markouizos syndrome?
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Advocacy Organizations
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
Team Titin
Team Titin, Inc.'s mission is to serve those living with, caring for, or researching titin (TTN) related muscle and heart disorders.
Clinical Trials
For a list of clinical trials in this disease area, please click here.