Synonyms: SPENCD | Spondyloenchondromatosis | Spondylometaphyseal dysplasia with enchondromatous changes
Spondyloenchondrodysplasia (SPENCD) is a very rare genetic skeletal dysplasia characterized clinically by skeletal anomalies (short stature platyspondyly short broad ilia) and enchondromas in the long bones or pelvis. SPENCD may have a heterogeneous clinical spectrum with neurological involvement (spasticity mental retardation and cerebral calcifications) or autoimmune manifestations such as immune thrombocytopenic purpura systemic lupus erythematosus (see these terms) hemolytic anemia and thyroiditis.
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 October 2024
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Spondyloenchondrodysplasia?
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Advocacy Organizations
Accessia Health
Accessia Health is a national nonprofit 501(c)(3) organization that provides programs and services to individuals of all ages who are living with a rare or chronic health condition. With 80+ disease programs, we offer case management, education, and financial assistance for health insurance premiums, medication copayments, travel, and other medical expenses. We’re focused on addressing unmet needs in healthcare, including paying for important expenses such as diagnostic tests, durable medical equipment, and more. Our holistic, inclusive, outcomes focused approach offers patients comprehensive support throughout their healthcare journey.
Autoimmune Registry Inc.
Autoimmune Registry, Inc., ARI, is a 501(c)(3) non-profit umbrella organization that provides a hub for research, statistics, and patient data on all autoimmune diseases. Since 2016 we have operated a database for patients who suffer from any autoimmune disease. Our mission is to reduce the time of diagnosis, support research, compute prevalence statistics, and establish autoimmune disease as a major class of disease so that it receives the awareness of the public, the attention of healthcare providers, and the appropriate funding needed to improve upon existing treatment protocols and disease management strategies.
Autoinflammatory Alliance
https://autoinflammatory.org
Care-for-Rare America Inc
To establish a global alliance in order to identify the genetic causes of rare diseases and develop effective treatments, following a three-stage approach: recognize, understand, cure.
Help Hope Live
Help Hope Live supports community-based fundraising for people with unmet medical expenses and related costs due to cell and organ transplants or catastrophic injuries and illnesses. These efforts play a critical role in helping clients access the care and equipment they need to heal, live, and thrive. Unlock a powerful and safe way to raise funds for medical needs with Help Hope Live. They provide one-on-one fundraising guidance, a customizable Campaign Page, bill pay support, and additional benefits based on their 501(c)(3) nonprofit status.
Immune Deficiency Foundation
To improve the diagnosis, treatment and quality of life of people affected by primary immunodeficiency.
Syndromes Without A Name (SWAN) Australia
Provide information, support and advocacy to families caring for a child with an undiagnosed or rare genetic condition.
The AIP BIPOC Network
Our mission is to improve the quality of life of the BIPOC Autoimmune Community through Awareness, Advocacy, Action, Assessment and Access.
The Chandler Project
The Chandler Project brings awareness and shines a light on transformative research surrounding achondroplasia and other skeletal dysplasias by offering support to a global community and network of patients, parents, and caregivers seeking information on scientific discoveries, pharmaceutical advancements and surgical treatment options.
Think of me Please®
Think of me Please® is dedicated to raising awareness and support for immunocompromised individuals and helping to reduce added health risks in the community.
Ukrainian Association of Pediatric Immunology
Development of pediatric and clinical immunology in Ukraine. Raising awareness of inborn errors of immunity in Ukraine and rare immune diseases; Advocacy campaigns supporting patients with rare immune diseases and their treatment plans; Scientific research; Sharing knowledge about immunoprophylaxis; Advocacy campaigns supporting immunoprophylaxis.
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Clinical Trials
For a list of clinical trials in this disease area, please click here.