Microhydranencephaly

Microhydranencephaly (MHAC) is a severe abnormality of brain development characterized by both microcephaly and hydranencephaly. Signs and symptoms may include severe microcephaly, scalp rugae (a series of ridges), and profound developmental delay. Familial occurrence of the condition is very rare but it has been reported in a few families. It has been suggested that MHAC is possibly inherited in an autosomal recessive manner involving a mutation of the gene NDE1.

Notable cases

• Jaxon Buell was born on August 27, 2014 with 80% of his brain, and most of his skull, missing. He surpassed all doctors expectations, who did not expect him to live to his second birthday. He passed away at five years old.