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. Reference: Access aggregated data from Orphanet at Orphadata. Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version February 2026
Newly diagnosed with
Early-onset calcifying leukoencephalopathy-skeletal dysplasia?
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Advocacy Organizations
Alex, The Leukodystrophy Charity
Support and access to treatment for everyone living with leukodystrophy Provide support for those living with leukodystrophy, and their families/carers Raise awareness of leukodystrophy Improve best practice in prevention, diagnosis & treatment Support research initiatives
Cure LBSL
Our Mission 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
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.
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.
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.
Wave of Support, Inc
Empowering those affected by bleeding disorders and other rare disease through advocacy, resources, education, and support
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Clinical Trials
For a list of clinical trials in this disease area, please click here.