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Dysmorphic sialidosis

MedGen UID:
854860
Concept ID:
C3888317
Disease or Syndrome
Synonyms: Sialidoses, type 2; Sialidosis, Type II
SNOMED CT: Dysmorphic sialidosis (52186006); Sialidosis, type 2 (52186006)
 
OMIM®: 256550; 608272

Definition

Sialidosis type 2 (ST-2) is a rare lysosomal storage disease, and the severe, early onset form of sialidosis (see this term) characterized by a progressively severe mucopolysaccharidosis-like phenotype (coarse facies, dysostosis multiplex, hepatosplenomegaly), macular cherry-red spots as well as psychomotor and developmental delay. ST-2 displays a broad spectrum of clinical severity with antenatal/congenital, infantile and juvenile presentations. [from ORPHANET]

Professional guidelines

PubMed

Sergi C, Penzel R, Uhl J, Zoubaa S, Dietrich H, Decker N, Rieger P, Kopitz J, Otto HF, Kiessling M, Cantz M
Hum Genet 2001 Oct;109(4):421-8. doi: 10.1007/s004390100592. PMID: 11702224

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