Hydrolethalus syndrome
Hydrolethalus Syndrome
Hydrolethalus syndrome (pronunciation: /ˌhaɪdrəˈliːθələs ˈsɪndrəʊm/) is a rare, lethal genetic disorder that affects the development of various parts of the body. The most common features are severe hydrocephalus due to excessive accumulation of cerebrospinal fluid, and a characteristic skull abnormality called molar tooth sign.
Etymology
The term "Hydrolethalus" is derived from the Greek words "hydro" meaning water, and "lethalus" meaning deadly, referring to the lethal accumulation of fluid in the brain.
Symptoms
The symptoms of Hydrolethalus syndrome may include micrognathia, polydactyly, cleft lip or palate, and clubfoot. The severity of these symptoms can vary widely among affected individuals.
Causes
Hydrolethalus syndrome is caused by mutations in the HYLS1 gene. This gene provides instructions for making a protein that is involved in the formation of cilia, which are small, hair-like structures that project from the surface of cells and are involved in cell movement and signaling.
Diagnosis
Diagnosis of Hydrolethalus syndrome is typically made based on the presence of characteristic signs and symptoms. Genetic testing can confirm the diagnosis.
Treatment
There is currently no cure for Hydrolethalus syndrome. Treatment is supportive and based on the signs and symptoms present in each person.
See also
References
External links
- Medical encyclopedia article on Hydrolethalus syndrome
- Wikipedia's article - Hydrolethalus syndrome
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