Abstract

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.

Diagnosis

Hydrolethalus can be readily diagnosed during pregnancy through the use of ultrasound, which will often reveal hydrocephaly and an abnormal structure of the brain.

Treatment

No cure or treatment option for individuals with Hydrolethalus syndrome currently exist.