10q22.3q23.3 microdeletion syndrome

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10q22.3q23.3 microdeletion syndrome

Synonyms: Del(10)(q22.3q23.3) | Deletion 10q22.3q23.3 | Monosomy 10q22.3q23.3

10q22.3q23.3 microdeletion syndrome is a rare partial autosomal monosomy characterized by a mild facial dysmorphism variably including macrocephaly broad forehead hypertelorism or hypotelorism deep-set eyes upslanting or downslanting palpebral fissures low-set ears flat nasal bridge smooth philtrum thin upper lip) cleft palate cerebellar and cardiac malformations psychomotor development delay and behavioral abnormalities (attention deficit hyperactivity disorder autism). Other rare features may include congenital breast aplasia arachnodactyly joint hyperlaxity club feet feeding difficulties failure to thrive.

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 September 2023.

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10q22.3q23.3 microdeletion syndrome?

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Advocacy Organizations

Youth and Women for Opportunities Uganda-YWOU

Youth and Women for Opportunities-YWOU an organization that we represent is patient organization re-presentative, patient and institution and individual capacity builder supporting PLWRD’s to obtain diagnosis, treatment and drugs for those suffering consequences of being undiagnosed or misdiagnosed and lack treatment and those who lack precise diagnosis for rare, orphan and undiagnosed diseases preventing PLWRD’s accessing the most adapted care, treatment or surgery, have delayed access to the most appropriate care, treatment or surgery

Uganda Alliance of Patients Organization

Uganda Alliance of Patients’ Organization (UAPO) is a not-for profit patient- led NGO aiming to amplify the patients’ voice while advocating for improvements and access to quality and equitable health care through a patient centered approach. We promote meaningful involvement and engagement of patients in matters affecting their lives as they interact with HCPs and decision makers.

Malaysian Rare Disorders Society

1. Provide support to individuals and families affected with Rare Disorders. 2. Develop strategies and programs to raise public and professional 3. Ensure Human Rights of access to healthcare education, job opportunities are upheld. 4. Participate in the formulation and implementation national policies in Malaysia related to person with rare disorders and rare disorders


The mission is to provide free health care services, education, and training to the most vulnerable, poorest, and underserved.The vision is ever-increasing access to medical treatment, better education, and nutrition, especially for those unable to pay for the necessary products and services.This approach helps us transform the lives of millions of people and address data gaps on different issues,

Clinical Trials

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