Microhydranencephaly
Microhydranencephaly is a severe abnormality of brain development characterized by both microcephaly and hydranencephaly. Signs and symptoms may include severe microcephaly, scalp rugae, 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.
