OMIM 236680 | DiseasesDB 34380 | |
Hydrolethalus syndrome (less commonly referred to as Salonen-Herva-Norio syndrome) is a rare genetic disorder that causes improper fetal development, resulting in birth defects and often stillbirth.
It is associated with HYLS1 mutations.
Symptoms
Hydrolethalus syndrome can cause heart and brain defects, a cleft lip or palate, an abnormally shaped nose or jaw, or incomplete lung development. These defects are typically serious enough to cause stillbirth or death within a few days of birth.
References
Hydrolethalus syndrome Wikipedia(Text) CC BY-SA