SNP Shot: Genomic Insights

Chanarin-Dorfman syndrome is characterized by the abnormal accumulation of fats (lipids) within the body. Individuals with this disorder are unable to properly process triglycerides, leading to their buildup in various organs and tissues such as the skin, liver, muscles, intestines, eyes, and ears. A hallmark of this condition is ichthyosis, resulting in dry, scaly skin that is typically evident from birth. Other common characteristics can include an enlarged liver (hepatomegaly), cataracts (clouding of the eye's lens), ataxia (difficulty with coordination), hearing loss, short stature, myopathy (muscle weakness), nystagmus (involuntary eye movements), and mild intellectual disability.

The manifestation of Chanarin-Dorfman syndrome differs significantly from person to person. While some may only exhibit ichthyosis, others experience a broader range of complications affecting multiple body systems.

Inheritance:

Chanarin-Dorfman syndrome follows an autosomal recessive inheritance pattern. This means that for an individual to be affected, they must inherit a mutated copy of the responsible gene from both parents. The parents, who each carry only one copy of the mutated gene, usually do not display any signs or symptoms of the condition themselves.