Microhydranencephaly, abbreviated MHAC, is a severe disorder of brain development in which two features occur together: an abnormally small head, called microcephaly, and hydranencephaly, in which fluid-filled spaces replace much of the cerebral tissue. Reported signs include very small head size, a pattern of ridges in the scalp known as rugae, and profound intellectual disability. Families with more than one affected member are very rare, though a few have been described. Some cases are thought to be inherited in an autosomal recessive pattern through a loss-of-function mutation in the gene NDE1.
Facts
Classification
ICD-10 ChapterXVII: Congenital Malformations, Deformations and Chromosomal Abnormalities 1 Communicable or Non-communicable Causative Agent
Causative Agent (category) Sources
1. Microhydranencephaly (Wikipedia)
Lead section
loss-of-function mutation of the gene NDE1
Lead section [condition-kind]
severe abnormality of brain development
Lead section [disease-category]
inherited in an autosomal recessive manner
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