Qazi-Markouizos syndrome

Get in touch with RARE Concierge.

Contact RARE Concierge

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 March 2024

Newly diagnosed with
Qazi-Markouizos syndrome?

Our RARE Concierge Services Guides are available to assist you by providing information, resources and connections as you navigate your rare disease journey.

Get Concierge Help

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

For a list of clinical trials in this disease area, please click here.