Early-onset calcifying leukoencephalopathy-skeletal dysplasia
A rare genetic neurological disorder characterized by pediatric onset of calcifying leukoencephalopathy and skeletal dysplasia. Reported structural brain abnormalities include agenesis of corpus callosum ventriculomegaly congenital hydrocephalus pontocerebellar hypoplasia periventricular calcifications Dandy-Walker malformation and absence of microglia. Characteristic skeletal features include increased bone mineral density (reported in skull pelvic bone and vertebrae) platyspondyly and under-modeling of tubular bones with widened/radiolucent metaphysis and constricted/sclerotic diaphysis.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http: //www.orphadata.org. Data version September 2023.
Newly diagnosed with
Early-onset calcifying leukoencephalopathy-skeletal dysplasia?
Our RARE Concierge Services Guides are available to assist you by providing information, resources and connections as you navigate your rare disease journey.
Aicardi-Goutieres Syndrome Advocacy Association
AGSAA is a global coalition of deeply dedicated parent advocates working alongside clinicians, researchers, and scientists. We are united in our desire to improve the lives of individuals and families living with Aicardi-Goutières Syndrome and those yet to be diagnosed. Everything we do reflects a sense of urgency to rescue patient potential and preserve quality of life through accelerating research and providing timely emotional and educational support alongside evolving clinical care recommendations to affected families.
United Leukodystrophy Foundation
OUR MISSION is to provide support to the leukodystrophy community and enable platforms to accelerate improving patient quality of life and finding cures.
Find a cure for LBSL, advance awareness of the disease, and support patients, families, and medical providers confronted with this ultra-rare condition.
Genetic Support Network of Victoria
The Genetic Support Network of Victoria is an organisation that supports people living with genetic, undiagnosed and rare conditions and those who support them including community and families, patient support organisations, health professionals and industry. Our vision is our community flourishing and living their best lives.
KIF1A.ORG is a global community dedicated to improving the lives of those affected by KIF1A Associated Neurological Disorder (KAND) and accelerating research to find a cure.
Moonshots for Unicorns
Curing single-gene disorders
COMBINEDBrain is a consortium for outcome measures and biomarkers for neurodevelopmental disorders. We are collaborating to cure rare, non-verbal brain disorders.
The Chandler Project
The Chandler Project (TCP) provides those affected with achondroplasia, and other forms of skeletal dysplasia (dwarfism), with the latest in pharmaceutical research and surgical advancements.
Syndromes Without A Name (SWAN) Australia
Provide information, support and advocacy to families caring for a child with an undiagnosed or rare genetic condition.
Help Hope Live
Help Hope Live assists individuals living with catastrophic injuries and illnesses to fundraise toward their medical expenses and related costs.
For a list of clinical trials in this disease area, please click here.