Disease Directory

Cornelia de Lange syndrome 4 is a type of Cornelia de Lange syndrome that is caused by a mutation in the RAD21 gene. It is part of a group of disorder...

Cornelia de Lange syndrome 5 is a rare genetic condition that is one form within the spectrum of Cornelia de Lange syndromes. This condition has been...

Cornelia de Lange syndrome 6 is a rare genetic condition. There is limited detailed information available about this specific type of Cornelia de Lang...

Costello syndrome is a rare disorder that affects multiple parts of the body. It is marked by challenges such as failure to thrive and short stature,...

Cowden disease is a genetic condition marked by the growth of multiple benign tumors known as hamartomas in various tissues of the body. These tumors...

Cowden syndrome 1 is a rare genetic condition caused by a mutation in the PTEN gene. It is one type within a group of conditions referred to as Cowden...

Cowden syndrome 2 is a rare genetic condition that is a form of Cowden disease. This condition is specifically caused by a mutation in the SDHB gene....

Cowden syndrome 3 is a type of Cowden disease that is caused by a mutation in the SDHD gene. This condition is one of several inherited conditions whe...

Cowden syndrome 4 is a form of Cowden disease that occurs because of a mutation in the KLLN gene. This condition is one of several types of Cowden dis...

Cowden syndrome 5 is a rare inherited condition caused by a mutation in the PIK3CA gene. It is also known by several other names, including Cowden dis...

Cowden syndrome 6 is a rare condition that occurs when there is a mutation in the AKT1 gene. It is one of several disorders under the umbrella of Cowd...

Cowden syndrome 7 is a rare condition that is a type of Cowden disease caused by a mutation in the SEC23B gene. It is one of several conditions in the...

Information about overview is currently limited for this condition.

Crandall syndrome is a rare condition that affects several body systems. It is marked by progressive sensorineural hearing loss, hair loss (alopecia),...

Crane-Heise syndrome is a very rare condition that affects the development of bones and the face. People with this syndrome usually have a poorly mine...

Creutzfeldt Jacob disease is a rare, transmittable disorder that affects the brain. It is caused by prions, which are unusual proteins that lead to br...

Cri-du-chat syndrome, also known as 5p deletion syndrome, is a congenital chromosomal disorder characterized by a distinctive high-pitched, cat-like c...

Crigler-Najjar syndrome is a metabolic liver disorder that impairs the body’s ability to process bilirubin, leading to a buildup of unconjugated (indi...

Crigler-Najjar syndrome type 1 is a severe inherited liver disorder characterized by a complete absence of the enzyme activity required for bilirubin...

Crigler-Najjar syndrome type 2 is a hereditary disorder of bilirubin metabolism that results in elevated levels of unconjugated bilirubin due to reduc...