10q22.3q23.3 microdeletion syndrome

Get in touch with RARE Concierge.

Contact RARE Concierge

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 July 2024

Newly diagnosed with
10q22.3q23.3 microdeletion 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

3:1 Neuropsychology Consultants, PLLC

FELIS HEALTHCARE FOUNDATION INC

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,

Heal Canada

At Heal Canada, our mission is to empower patients, improve healthcare outcomes, and advocate for equitable access to quality healthcare across Canada. As a not-for-profit patient advocacy and education organization, we are committed to fostering a patient-centered healthcare system that prioritizes the well-being, dignity, and rights of every individual through Patient Empowerment, Education and

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

Rare Disease Lesotho Association

Rare Disease mission is to assist all patients affected by rare diseases in Lesotho to access supportive care and educate about Rare diseases. To build a community of patients , caregivers, medical professionals, researchers and relevant shareholders supporters, to impose joint effort and transform the lives of persons living with rare disease nation wide in Lesotho.

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.

Youth And Women for Opportunities Uganda-YWOU

Our mission supports Rare, orphan and undiagnosed diseases diagnosis, care and treatment, education, awareness and empowering health care professionals and patients care takers of rare, orphan and undiagnosed diseases arena in Uganda, build capacity and bridge lack of clinical knowledge and experience and provide search/quest for diagnostic laboratories, I advocate for changes in laws, practices

Don't see your organization here. Let us know here.

Clinical Trials

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