Holoprosencephaly

Holoprosencephaly (pronunciation: /ˌhoʊloʊˌproʊsɛnˈsɛfəli/), is a complex brain malformation resulting from incomplete cleavage of the prosencephalon into right and left hemispheres occurring between the 18th and the 28th day of gestation.

Etymology

The term "Holoprosencephaly" is derived from the Greek words "holos" (whole), "proso" (forward) and "encephalon" (brain), indicating the condition's characteristic of a single-lobed brain structure.

Types

There are three types of Holoprosencephaly:

Alobar Holoprosencephaly: The brain does not divide at all. This is usually associated with severe facial deformities.
Semilobar Holoprosencephaly: The brain's hemispheres have a slight tendency to separate. This is often associated with less severe facial deformities.
Lobar Holoprosencephaly: There is considerable evidence of separate brain hemispheres. The least severe form.

Symptoms

Symptoms of Holoprosencephaly may include microcephaly (abnormally small head), macrocephaly (abnormally large head), hypotelorism (closely spaced eyes), cleft lip or cleft palate, and other distinctive facial features.

Causes

Holoprosencephaly is caused by a mutation in the SHH (Sonic Hedgehog) gene, but can also be associated with chromosomal abnormalities, such as Trisomy 13.

Treatment

There is no cure for Holoprosencephaly. Treatment is symptomatic and supportive, often involving a team of specialists.

Related Terms

External links

Medical encyclopedia article on Holoprosencephaly
Wikipedia's article - Holoprosencephaly

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Holoprosencephaly