Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders
Synonyms: Mucopolysaccharidosis-like plus disease
A rare genetic disease characterized by early-onset respiratory difficulties and frequent respiratory infections congenital heart defects dysostosis multiplex hepatosplenomegaly renal involvement hematopoietic abnormalities facial dysmorphism (coarse facial features large forehead synophrys long eyelashes broad nasal bridge macroglossia short neck and low hairline) and global developmental delay. Laboratory examination shows increased urinary excretion of glycosaminoglycans and increased plasma heparan sulfate but no lysosomal enzyme deficiency. The disease is usually fatal in the first years of life.
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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Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders?
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Advocacy Organizations
COMBINEDBrain Inc
COMBINEDBrain is a consortium for outcome measures and biomarkers for neurodevelopmental disorders. We are collaborating to cure rare, non-verbal brain disorders.
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.
Moonshots for Unicorns
Curing single-gene disorders
Project CASK
To fund research for treatment and/or a cure for CASK Gene Disorder
Syndromes Without A Name (SWAN) Australia
Provide information, support and advocacy to families caring for a child with an undiagnosed or rare genetic condition.
Clinical Trials
For a list of clinical trials in this disease area, please click here.