Alström syndrome

Alstrom syndrome
Transaxial image of the chest at the level of the heart illustrating the typical degree of subcutaneous and epicardial adipose tissue (shown in white) in a patient with Alström syndrome; hence the difficulty in imaging by echocardiography.
Classification and external resources
Specialty	medical genetics
ICD-10	Q87.8
OMIM	203800
DiseasesDB	465
MedlinePlus	001665
[]

Alström syndrome, also called Alstrom-Halgren Syndrome, is a rare genetic disorder caused by mutations in the gene ALMS1. It is among the rarest genetic disorders in the world, as currently it has only 266 reported cases in medical literature and over 501 known cases in 47 countries. It was first described by Carl-Henry Alström in Sweden in 1959. Alstrom syndrome is sometimes confused with Bardet-Biedl syndrome, which has similar symptoms. Bardet-Biedl syndrome tends to have later onset in its symptoms. The likelihood of two carrier parents both passing the gene and therefore having a child affected by the syndrome is 25% with each pregnancy. The likelihood of having a child who is only a carrier of the gene is 50% with each pregnancy. The likelihood of a child receiving normal genes from both parents and being considered to be "genetically" normal is 25%. The risk for carrying the gene is equivalent for both males and females.

"Alström syndrome (AS) is a rare autosomal recessive disease characterized by multiorgan dysfunction. The key features are childhood obesity, blindness due to congenital retinal dystrophy, and sensorineural hearing loss. Associated endocrinologic features include hyperinsulinemia, early-onset type 2 diabetes, and hypertriglyceridemia."

Thus, AS shares several features with the common metabolic syndrome, namely obesity, hyperinsulinemia, and hypertriglyceridemia. Mutations in the ALMS1 gene have been found to be causative for AS with a total of 79 disease-causing mutations having been described." Prevalence estimates have ranged from 1 in 10,000 to fewer than 1 in 1,000,000 individuals in the general population.

Symptoms for Alström syndrome generally appear during infancy with great great variability in age. Some of the symptoms include:

Alström Syndrome is a rare genetic disorder that affects multiple organ systems of the body. This genetic disorder is caused by a mutation of the ALMS1 gene. The gene mutation is inherited as an autosomal recessive trait. This means both parents have to pass a copy of the ALMS1 gene in order for their child to have the syndrome even though the parents may not show signs or symptoms of the condition. It is still considered to be unknown on how the defective gene causes the disorder.

...
Wikipedia