Alstrom syndrome


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Al·ström syn·drome

(ahl'strem), [MIM*203800]
retinal degeneration with nystagmus and loss of central vision, associated with obesity in childhood; sensorineural hearing loss and diabetes mellitus usually occur after age 10; autosomal recessive inheritance.

Alström syndrome

(ăl′strəm, äl′strœm)
n.
An inherited syndrome marked by retinal degeneration with nystagmus and loss of central vision, nerve deafness, childhood obesity, type 2 diabetes, and other conditions.

Alström syndrome

Alström-Hallgren syndrome, retino-otodiabetic syndrome Ophthalmology An AR condition characterized by progressive blindness, type 1 DM, obesity, deafness, normal mental capacity

Als·tröm syn·drome

(ahl'strem sin'drōm)
Retinal degeneration with nystagmus and loss of central vision, associated with obesity in childhood; sensorineural hearing loss and diabetes mellitus usually occur after age 10 years;autosomal recessive inheritance; associated with the ALMS1 gene.

Alström,

Carl-Henry, Swedish geneticist, 1907–.
Alström syndrome - retinal degeneration with nystagmus and loss of central vision.
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Characteristics THV USH2 AS Age 31.15 (8.32) 38.8 (12.7) 26.7 (6.5) Hearing [PTA.sub.4] -- 64.38 (9.53) 63.50 (11.80) Visual acuity -- .45 (.37) .036 (.58) Visual field -- 3.54 (.78) 4.70 (.48) AS = Alstrom syndrome; TVH = typical hearing and vision; USH2 = Usher syndrome type 2.
Clinical features and complications of Alstrom syndrome Patient Presentation (*) Literature, % in the present study Retinal degeneration 98 + Sensorineural deafness 89 + Diabetes 82 + Obesity 98 - Acanthosis nigricans 68 + Hypergonadotropic 78 + hypogonadism Hypothyroidism 17 - Short stature 98 + Hepatic dysfunction 92 + Dilated cardiomyopathy 60 + Renal dysfunction 49 + *- 1.
Mothers like Mrs Shah, who is from Leytonstone, east London, are hoping that medical research will develop a cure for Alstrom Syndrome to help their children before it is too late.
The center at GBMC represents the culmination of decades of effort to bring more attention to Alstrom Syndrome, Robin Marshall said.
Alstrom Syndrome International has made a $500,000 pledge to create the center in Jan Marshall's name.
Clair Francomano, director of adult genetics at the Harvey Institute of Human Genetics at GBMC, will serve as the chair of the scientific advisory board for Alstrom Syndrome International.
Alstrom Syndrome is also characterized by a progressive loss of vision and hearing, a form of heart disease that enlarges and weakens the heart muscle (dilated cardiomyopathy), and short stature.
"Alstrom syndrome (OMIM 203800): a case report and literature review.".
Full-field electroretinography and marked variability in clinical phenotype of Alstrom syndrome. Arch.
Alms1-disrupted mice recapitulate human Alstrom syndrome. Hum.
Kay Parkinson, of Alstrom Syndrome UK Support, said: "We were thrilled to get a grant for this special day."
Alstrom Syndrome is so rare there are only 305 people in the world who are recognised as having the condition.