Lathosterolosis
Synonyms: Sterol C5-desaturase deficiency
Lathosterolosis is an extremely rare inborn error of sterol biosynthesis characterized by facial dysmorphism congenital anomalies (including limb and kidney anomalies) failure to thrive developmental delay and liver disease.
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 April 2024
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Lathosterolosis?
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Advocacy Organizations
DDX3X Foundation
Our mission is to connect families, resources, and the medical community to advance research for a treatment or cure to DDX3X Syndrome. Our ultimate goal is to accelerate brain function in individuals affected by DDX3X Syndrome through advances in cell and gene therapy and pharmaceuticals.
Clinical Trials
For a list of clinical trials in this disease area, please click here.