dysostosis multiplex

Also found in: Medical, Encyclopedia, Wikipedia.
ThesaurusAntonymsRelated WordsSynonymsLegend:
Noun1.dysostosis multiplex - hereditary disease (autosomal recessive) consisting of an error is mucopolysaccharide metabolism; characterized by severe abnormalities in development of skeletal cartilage and bone and mental retardation
gargoylism, Hurler's disease, Hurler's syndrome, lipochondrodystrophy
monogenic disease, monogenic disorder - an inherited disease controlled by a single pair of genes
mucopolysaccharidosis - any of a group of genetic disorders involving a defect in the metabolism of mucopolysaccharides resulting in greater than normal levels of mucopolysaccharides in tissues
Based on WordNet 3.0, Farlex clipart collection. © 2003-2012 Princeton University, Farlex Inc.
Mentioned in
References in periodicals archive
(12) Mucopolysaccharidosis is caused by the deficiency of one of those enzymes responsible for glycosaminoglycan degradation, resulting in subsequent GAG accumulation in several tissues leading to various pathological features including mental retardation, coarse face, short stature, dysostosis multiplex, corneal clouding, hepatosplenomegaly, and cardiac involvement.
Michigan Hand Outcomes Questionnaire for the Evaluation of Patients with Mucopolysaccharidosis
He has scoliosis, dysostosis multiplex, mild mental retardation, waddling gait, height stunting and coarse face.
Mucolipidosis Type III: A Rare Disease in Differential Diagnosis of Joint Stiffness in Pediatric Rheumatology
Copyright © 2003-2025 Farlex, Inc Disclaimer
All content on this website, including dictionary, thesaurus, literature, geography, and other reference data is for informational purposes only. This information should not be considered complete, up to date, and is not intended to be used in place of a visit, consultation, or advice of a legal, medical, or any other professional.