Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders

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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 June 2024

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