Cervical agenesis is a rare congenital condition in which the cervix completely fails to develop, often associated with the concurrent failure of the vagina to develop.
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Other examples include commissurotomy, the surgical cutting of cerebral commissures to treat epilepsy and callosal agenesis which is when individuals are born without a corpus callosum.
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In particular, she is involved in researching a phenomenon where the corpus collosum is absent ( agenesis ) or disformed ( dysgenesis ) in the developing brain.
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Although MRI can detect the absence of a cervix ( agenesis ), it is unable to show cervical dysgenesis ( where the cervix is present, but malformed ).
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Mutations in this gene are associated with Mitchell-Riley syndrome, which is characterized by neonatal diabetes with pancreatic hypoplasia, duodenal and jejunal atresia, and gall bladder agenesis.
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Several years later, it was established that bilateral renal agenesis resulted in oligohydramnios, and that the low levels of amniotic fluid caused fetal compression and the observed facial features.
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In addition to agenesis of the corpus callosum, similar conditions are hypogenesis ( partial formation ), dysgenesis ( malformed ), and hypoplasia ( underdevelopment, including too thin ).
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FAS has also been linked to brainstem and cerebellar changes, agenesis of the corpus callosum and anterior commissure, neuronal migration errors, absent olfactory bulbs, meningomyelocele, and porencephaly.
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A recent study of individuals with agenesis of the corpus callosum suggests that the corpus callosum plays a vital role in problem solving strategies, verbal processing speed, and executive performance.
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She graduated from Wilbert Tucker Woodson High School in 2015; she founded The International Sacral Agenesis / Caudal Regression Association, or iSACRA, with a group of volunteers in 2012.
