Alstrom syndrome is a rare genetic disorder with an autosomal recessive pattern of inheritance. It is characterized by progressive multiorgan dysfunction, visual and hearing impairment, obesity, and cardiomyopathy, all of which lead to a reduction in the lifespan of affected individuals.
Alstrom syndrome (ALMS), a rare autosomal recessive condition due to mutations in the ALMS1 gene located on the second chromosome, is characterized by progressive multisystem dysfunction in homozygous individuals while heterozygous individuals are asymptomatic    . The clinical presentation is variable in onset as well as severity even in individuals belonging to the same family .
Symptoms related to different organ systems appear in childhood and progress with age.
Although growth spurt is normal in early childhood, it plateaus off and individuals with ALMS usually have a short stature, round face, thick ears, frontal alopecia, abnormal and discolored dentition, scoliosis, flat feet and short, fat fingers and toes.
The diagnosis of ALMS is based on the typical clinical presentation, although, occasionally variable phenotypic expression can delay the diagnosis  . Cone electroretinography reveals weak cone activity in infancy with severely diminished responses and cone dystrophy on full-field electroretinography by 3 years of age. Optical coherence tomography (OCT) imaging has been used to demonstrate macular thinning and developmental arrest . Laboratory tests help to detect elevated blood sugar levels with hypertriglyceridemia, elevated hepatic transaminases, abnormal renal function tests, albuminuria, low levels of testosterone, elevated gonadotropins, low levels of growth hormone, abnormal levels of insulin-like growth factors  , elevated leptin levels , and secondary or subclinical hypothyroidism.
Molecular genetic analysis is used to confirm the diagnosis   .