HLS can be readily diagnosed during pregnancy through the use of ultrasound, which will often reveal hydrocephaly and an abnormal structure of the brain. Precise examination via ultrasound or at birth is necessary to rule out Meckel syndrome, Trisomy 13, or Smith–Lemli–Opitz syndrome, which present with similar physiological defects. HLS can be detected at the end of the first trimester, approximately 13 weeks gestation.
Hydrolethalus syndrome
Gray baby syndrome
Cantú syndrome
Neonatal encephalopathy
Blue baby syndrome
Foster Kennedy syndrome
Muenke syndrome
Baboon syndrome