microhydranencephaly
Sign in to saveAlso known as MHAC, MICROHYDRANENCEPHALY; MHAC, Hydranencephaly and Microcephaly
300px|thumb 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 intellectual disability. Familial occurrence of the condition is very rare but it has been reported in a few families. It has been suggested that some cases of MHAC are inherited in an autosomal recessive manner via a loss-of-function mutation of the gene NDE1.
In the Vinony graph
Vinony's link graph records 7 inbound references to microhydranencephaly, and connects out to public domain, digital object identifier and mutation.
It is catalogued under topics including Autosomal recessive disorders, Congenital disorders of nervous system and Rare diseases.
Vinony links it to 5 Wikipedia language editions.
Research
10 papers- Prenatal diagnosis of fetal microhydranencephaly: a case report and literature review.BMC pregnancy and childbirth · 2020
- Phenotypic spectrum of NDE1-related disorders: from microlissencephaly to microhydranencephaly.American journal of medical genetics. Part A · 2019
- NDE1-related disorders: A recurrent NDE1 pathogenic variant causing Lissencephaly 4 can also be associated with microhydranencephaly.American journal of medical genetics. Part A · 2022
- The novel genetic disorder microhydranencephaly maps to chromosome 16p13.3-12.1.American journal of human genetics · 2000
- 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 · 2010
via PubMed
Wikidata facts
Show 2 more facts
- exact match
- www.orpha.net/ORDO/Orphanet_443162
- genetic association
- NDE1
Sources (1)
via Wikidata · CC0
~1 min read
Encyclopedic overview
2 sectionsContents
- Notable cases
- References
300px|thumb 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 intellectual disability. Familial occurrence of the condition is very rare but it has been reported in a few families. It has been suggested that some cases of MHAC are inherited in an autosomal recessive manner via a loss-of-function mutation of the gene NDE1.
== Notable cases == Jaxon Buell (otherwise known as "Jank Boteko") 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 died at five years old.
Excerpted from Wikipedia’s “microhydranencephaly” article, available under the CC BY-SA 4.0 licence.