Keyword Analysis & Research: refsum disorder


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What does Refsum disease, infantile mean?

Infantile Refsum disease (IRD) is the mildest variant of the peroxisome biogenesis disorders, Zellweger syndrome spectrum (PBD- ZSS; see this term), characterized by hypotonia, retinitis pigmentosa, developmental delay, sensorineural hearing loss and liver dysfunction.

What is SS disease?

Systemic sclerosis (SS) is an autoimmune disorder. This means it’s a condition in which the immune system attacks the body. Healthy tissue is destroyed because the immune system mistakenly thinks it’s a foreign substance or infection. There are many kinds of autoimmune disorders that can affect different body systems.

Is there any syndrome that is similar to Down syndrome?

Similar to Williams syndrome, Down syndrome occurs because of a chromosome disorder resulting from an extra copy of chromosome 21. While Down syndrome doesn’t tend to run in families, one in three children with Down syndrome have a parent who carries a translocated chromosome 21.

Is Klinefelter syndrome a chromosome disorder?

Klinefelter syndrome is one of the most common chromosomal disorders, occurring in one to two per 1,000 live male births. It is named after American endocrinologist Harry Klinefelter, who identified the condition in the 1940s. In 1956, the extra X chromosome was identified as the cause.


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