Qazi-Markouizos syndrome

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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 Data version June 2024

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Advocacy Organizations

Team Titin

Team Titin, Inc.'s mission is to serve those living with, caring for, or researching titin (TTN) related muscle and heart disorders. To achieve this mission, we focus on four key pillars: Connection, Advocacy, Care, and Research.

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Clinical Trials

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