CADDS

CADDS is a rare genetic neurometabolic disease that affects many parts of the body. It is characterized by issues that begin before birth, including severe growth problems during pregnancy and difficulty thriving after birth. People with this condition often show signs of profound muscle weakness and delays in their overall development from a very early age. The condition is also marked by changes in the brain such as delayed myelination and larger than normal ventricles. Additional problems include eye issues like blindness and cataracts, hearing loss, and the development of seizures. Due to its complex nature, CADDS can lead to serious complications including liver problems that may result in hepatic failure and death.

Common features of CADDS include severe intrauterine growth retardation, failure to thrive in the newborn period, and profound neonatal hypotonia (low muscle tone). There are also severe developmental delays, abnormal brain structures (like delayed myelination and ventriculomegaly), ocular problems (such as blindness and cataracts), sensorineural deafness, and seizures. Elevated levels of very long chain fatty acids in the blood and neonatal cholestasis that can lead to liver failure are also important signs of this condition.

CADDS is caused by a genetic abnormality. It involves a contiguous gene deletion syndrome, meaning that a stretch of DNA containing multiple genes is missing. This genetic deletion affects how the body processes certain fats, leading to the various neurological and systemic issues seen in the condition.

Information about treatment is currently limited for this condition.

CADDS is a very severe condition. The complications, such as liver failure and extensive neurological involvement, make the outlook poor, with many affected individuals experiencing life-threatening issues at a very young age.

Information about research is currently limited for this condition.