Qazi-Markouizos syndrome

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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: // Data version September 2023.

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Advocacy Organizations

Association Aux Pas du Coeur

Our organization wants to raise awareness and recognize rare diseases in Côte d'Ivoire. Our mission is to: Raising awareness and campaigning to help with the diagnosis and free therapeutic care of patients. Request and/or contribute to actions relating to the training of the medical profession so that doctors are able to make a final diagnosis and ensure the continuous follow-up of patients. Create a patient registry to establish very precise statistics of rare diseases in Côte d'Ivoire. Create a close-knit patient community. Break the isolation and despair of sick people and their families. Open up to the world and actively contribute to international research aimed at treatments.

Clinical Trials

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