Proliferative Vasculopathy and Hydranencephaly-Hydrocephaly Syndrome (PVHH), OMIM #225790

Proliferative Vasculopathy and Hydranencephaly-Hydrocephaly Syndrome (PVHH)

OMIM number: 225790

Comments closing date: 29/08/2025

Proliferative vasculopathy hydranencephalyhydrocephaly
syndrome is a very rare, autosomal
recessive disorder. The main symptom of the
condition are hydrocephaly (build up of
cerebrospinal fluid in the brain) and
hydranencephaly (the left and right regions of the
brain are missing and replaced with sacs filled with
cerebrospinal fluid). It also presents with skeletal
abnormalities (limb deformities). The condition
usually leads to pre-natal death, and in the rare
case children survive they have no brain
development or function.

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