Prevalence
According to OMIM, around 15-20 cases from 4 affected families with Wolfram-like syndrome have been described in medical lirerature. All of the families studied were European, both by ancestry and by nacionality, the countries said families originated from were Denmark, the Netherlands, France, and Sweden, respectively. History
The disorder was seemingly first described in 1940 by Samuelson et al, their patients were 4 members from a Swedish family with an apparently never-described-before combination of autosomal dominant sensorineural deafness and optic atrophy. Said family was later re-examined in 2011 by Rendtorff et al
In 2006, Eiberg et al. described 4 affected members from a 3-generation Danish family, said individuals showed a phenotype similar to that shown by patients with Wolfram syndrome, the pair of symptoms associated with the familys unique disorder was inherited following an autosomal dominant manner. All individuals had progressive hearing loss starting in childhood and optic atrophy with onset in either childhood or middle age. 3 out of the 4 individuals were found to have irregular glucose regulation, 1 had reduced glucose tolerance, another one was found to have diabetes which was previously undiagnosed, and yet another one of the patients was found to have decreased function of the pancreas beta cells. 1 out of the 4 individuals had a diagnosed anxiety disorder as well as a sleep disorder.
Achondrogenesis, type 2 is one of several skeletal disorders caused by mutations in the COL2A1 gene. Achondrogenesis, type 2 and hypochondrogenesis (a similar skeletal disorder) together affect 1 in 40,000 to 60,000 births. References

This article incorporates public domain text from The U.S. National Library of Medicine


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