hydrolethalus syndrome

Pathology

• lethal malformation syndrome
• hydrocephaly with absent upper midline structures of brain

Genetics

• associated with defects in HYLS1 gene (type 1)

Clinical manifestations

• stillbirth or death shortly after birth
• micrognathia
• polydactyly

More general terms

• genetic syndrome (multisystem disorder)

Database

• OMIM: https://mirror.omim.org/entry/236680