Marinesco-Sjogren syndrome

A genetic disorder characterized by very small stature, cerebellar ataxia (wobbliness), cataracts, muscle weakness, hypogonadism (low gonadal function), and developmental and mental retardation. The disease is usually evident at birth because of hypotonia (floppiness). The cataracts appear during childhood. Motor milestones are delayed with ataxia apparent by the time the child can sit. Most patients are eventually able to ambulate with a walker. Growth is poor and pubertal development may not occur because of hypogonadism. Mental retardation is usually mild to moderate in severity. Prolonged survival is possible, but the muscle weakness tends to be progressive. The syndrome is inherited as an autosomal recessive trait with complete penetrance in both sexes. (Whoever receives two Marinesco-Sjogren genes, one from each parent, manifests the syndrome.) The nature of the genetic defect is unknown (as of 2001). The disease is very rare except in genetic isolates, such as one in rural Alabama. There is a site and support group for the syndrome at:

Medical dictionary. 2011.

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  • Marinesco–Sjögren syndrome — Marinescu Sjögren syndrome Classification and external resources OMIM 248800 DiseasesDB 31430 MeSH …   Wikipedia

  • Marinesco-Sjogren syndrome — Infobox Disease Name = PAGENAME Caption = DiseasesDB = 31430 ICD10 = ICD9 = ICDO = OMIM = 248800 MedlinePlus = eMedicineSubj = eMedicineTopic = MeshID = D013132 Marinesco Sjogren syndrome (MSS) is a rare autosomal recessive… …   Wikipedia

  • Syndrome de Marinesco-Sjogren — Syndrome de Marinesco Sjögren Syndrome de Marinesco Sjögren Autre nom Aucun Référence MIM …   Wikipédia en Français

  • Syndrome de Marinesco-Sjögren — Référence MIM 248800 Transmission Récessive Chromosome 5q31 Gène SIL1 Empreinte parentale Non …   Wikipédia en Français

  • síndrome de Marinesco-Sjögren — Eng. Marinesco Sjögren syndrome Síndrome caracterizado por oligofrenia, catarata congénita, ataxia cerebelar, amiotrofia neurógena y degeneración pigmentaria de retina …   Diccionario de oftalmología

  • syndrome — The aggregate of symptoms and signs associated with any morbid process, and constituting together the picture of the disease. SEE ALSO: disease. [G. s., a running together, tumultuous concourse; (in med.) a concurrence of symptoms, fr. syn,… …   Medical dictionary

  • Sjögren — Henrik C., Swedish ophthalmologist, 1899–1986. See S. disease, S. syndrome, Gougerot S. disease. Torsten, Swedish physician, 1859–1939. See S. Larsson syndrome, Torsten S. syndrome, Marinesco S. syndrome …   Medical dictionary

  • Marinesco — Georges, Roumanian neurologist, 1863–1938. See M. succulent hand, M. Garland syndrome, M. Sjögren syndrome …   Medical dictionary

  • Karl Sjögren — Karl Gustaf Torsten Sjögren was a physician who workred in Sweden. [WhoNamedIt|doctor|1609] Sjögren Larsson syndrome is named for him (along with Tage Larsson). [WhoNamedIt|synd|1678] cite journal |author=SJOGREN T, LARSSON T |title=Oligophrenia… …   Wikipedia

  • Noonan syndrome — Classification and external resources A 12 year old female with Noonan syndrome. Typical webbed neck. Double structural curve with rib deformity. ICD 10 Q …   Wikipedia

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