Microhydranencephaly
Microhydranencephaly (MHAC) is a severe abnormality of brain development characterized by both microcephaly and hydranencephaly.[1] 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.[1][2]
References
- ^ a b Behunova, Jana; Zavadilikova, Eva; Bozoglu, Tarik M.; Gunduz, Aysegul; Tolun, Aslihan; Yalcinkaya, Cengiz (2010-01-01). "Familial microhydranencephaly, a family that does not map to 16p13.13-p12.2: relationship with hereditary fetal brain degeneration and fetal brain disruption sequence". Clinical Dysmorphology. 19 (3). doi:10.1097/mcd.0b013e32833946e9.
- ^ "OMIM Entry - # 605013 - MICROHYDRANENCEPHALY; MHAC". omim.org. Retrieved 2015-09-26.
This article incorporates text from this source, which is in the public domain: "Microhydranencephaly". Genetic and Rare Diseases Information Center. National Institutes of Health. 11 April 2012. Retrieved 26 September 2015.
 | This genetic disorder article is a stub. You can help Wikipedia by expanding it. |