8q24.3 microdeletion syndrome

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8q24.3 microdeletion syndrome

Synonyms: Del(8)(q24.3) | Deletion 8q24.3 | Monosomy 8q24.3 | Verheij syndrome

A multiple congenital anomalies/dysmorphic – intellectual disability syndrome characterized by feeding problems growth retardation microcephaly developmental delay digital and vertebral anomalies joint laxity/dislocation cardiac and renal defects and dysmorphic facial features (including plagiocephaly prominent forehead bitemporal narrowing bilateral coloboma epicanthal folds malformations of the outer and middle ear wide nasal bridge anteverted nares prominent and bulbous nose tip long philtrum thin lips high and narrow palate micrognathia with prognathism/retrognathism full cheeks and short broad neck). Additional variable manifestations include obstructive apneas recurrent pneumonia and seizures.

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8q24.3 microdeletion syndrome?

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Advocacy Organizations

Help Hope Live

Help Hope Live supports community-based fundraising for people with unmet medical expenses and related costs due to organ transplants or catastrophic injuries or illnesses. For 38 years, Help Hope Live has been showing clients and families how to bring together a network of relatives, friends, and neighbors in fundraising efforts to help cover the cost of uncovered medical expenses. These efforts play a critical role in helping our clients recover and maintain their health and independence. Since 1983, we have helped thousands of people raise millions of dollars for Help Hope Live to pay a wide range of expenses, including out-of-pocket costs for: medications, durable medical equipment, home health care, wheelchair-accessibility modifications, physical therapy, innovative treatments, medical travel and temporary relocation, even emergency living assistance. Our program has also helped thousands pay it forward and assist others with their medical expenses. Annually, we help place medical care within reach of about 5,000 families across the nation.

Inclusive Skating

TO INCLUDE, INFORM AND INSPIRE people around the globe through the joy of skating, reflecting the compassion, respect and innovation that make ours the world’s premier inclusive organisation. Inclusive Skating is dedicated to the advancement of public participation in sport and the promotion of equality and diversity. Our primary objective is the development and implementation of programming which fosters the inclusion of skaters with any form of impairment or disability. Our ethos of inclusion extends to skaters of all ages and backgrounds; we welcome all with open arms. Values of empathy, integrity and empowerment are central to the pursuit of these goals. We believe that everyone should have the opportunity to experience the community, camaraderie, self-fulfilment, achievement, challenge, and thrill that participation in skating sports offers. We work to create these opportunities by offering activities, educational resources, events, training, and championships for our community.

Jamal’s Helping Hands

Jamal’s Helping Hands provides services for patients affected by rare disease and their families. With a vision to become a premier resource and national leader in education, outreach, advocacy, and support to individuals affected by rare disease. JHH enhances the quality of its clients lives by providing an array of services to make the experience of rare disease easier.

Patient Advocate Foundation

Patient Advocate Foundation (PAF), founded in 1996, is the nation’s leading direct patient services organization whose mission is to safeguard patients with chronic, life-threatening, and debilitating diseases through effective mediation of issues related to access to care and preservation of financial stability. Patients must be seeking help with any of the following needs related to their diagnosis: • Accessing prescribed healthcare, including understanding their healthcare benefits • Issues related to their health insurance benefits, including denials of care, out-of-pocket costs, network issues, and insurance options • Financial concerns, including cost-of-living expenses and medical expenses • Practical needs, including transportation and nutritional needs • Assistance with filing an application for disability Since its inception, PAF has provided direct, sustained patient assistance to more than 1.7 million patients and touched many more through its website and outreach events. Amongst the more common issues that patients and caregivers call PAF for help with include the inability to afford transportation expenses, inability to afford rent/mortgage, inability to afford their co-pay for medications, and inability to afford utilities and resulting shut-off notices. PAF serves patients with numerous health conditions, the majority of which have some form of cancer. Non-cancer diagnoses included rare diseases, chronic and debilitating conditions, nervous system conditions, cardiovascular conditions and vascular disease, autoimmune diseases, and diabetes. PAF solicits and receives donations to its programs from a multitude of sources including government agencies, non-profit organizations and for-profit organizations in the healthcare sector, including pharmaceutical manufacturers and healthcare providers. Patient Advocate Foundation also has several distinct programs targeting specific populations with an emphasis on the underserved.

Life Branches NFP Inc

Provide emotional wellness mental health to rare disease patients

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

Indo US Organization for Rare Diseases (IndoUSrare)

Our mission is to help establish and sustain patient-centric education, awareness, training, research, and engagement programs aligned with the FDA’s patient focused drug development (PFDD) paradigm in the following ways: 1. Diversity Patients Alliance Program: Advocate for global diversity, equity, and inclusion in clinical trials and improve access to clinical research as a care option for patients living with rare diseases. Collaborate for public health policy development & implementation such as Rare Disease and Orphan Drug Policies between USA, India and other countries. 2. Patient Concierge: Connect patients living with rare diseases in India, USA, and globally with clinical trials, patient advocacy groups, research, and international Consortia such as Global Genes, IRDiRC, NORD, RARE-X, RDI, and UDNI. 3. Research Programs: Conduct and facilitate cross-border research collaborations for genetic disorders. 4. Corporate Diversity Advisory Council (CDAC): will bring together biotech, pharma, and medical device sponsors, diagnostic companies, and other stakeholders of the life science industry as members of this council to set the agenda for advocacy and pre-competitive cooperation. 5. Bring together stakeholders of rare diseases by organizing national and international conferences

Rare Disease Male Mental Health Support Group

To The purpose of the group is to help break the stigma around male mental health and to encourage to take care of their emotional well being . It provides rare disease patients, caregivers with a safe space to talk about their experiences, get support and listen to other peoples stories . Having a rare disease comes with many added layers which can impact your life such as physical, medical, emotional, relationships and bereavement so it is important to talk about your emotional and mental well-being. Through awareness and education men have come together in this format and despite different rare conditions have found there is more on common with other men through connecting and supporting each other in this way .

MarylandRARE

MarylandRARE (research, advocate, resource & education) is a diverse coalition of rare disease community stakeholders in Maryland. Brought together by lived experience, this coalition of rare disease patients and caregivers, are working to bridge the gap regarding understanding, information, and resources that lead to systemic change at the local, state, and federal levels of government.

Clinical Trials

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