Holoprosencephaly

Common Name(s)

Holoprosencephaly

Holoprosencephaly is an abnormality of brain development that also affects the head and face. Normally, the brain divides into two halves (hemispheres) during early development. Holoprosencephaly occurs when the brain fails to divide properly into the right and left hemispheres. There are four types of holoprosencephaly according to the degree of brain division. From most to least severe, the types are known as alobar, semi-lobar, lobar, and middle interhemispheric variant (MIHV). The most severely affected individuals have one central eye (cyclopia) and a tubular nasal structure (proboscis) located above the eye. In the less severe forms, the brain is partially divided and the eyes are usually set close together (hypotelorism). Holoprosencephaly can be caused by mutations in a single gene, chromosome abnormalities, or substances that cause birth defects (teratogens).
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Holoprosencephaly" for support, advocacy or research.

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Pediatric Brain Foundation

Pediatric Brain Foundation's Mission is Three-fold: 1. Expedite scientific research to find treatments and cures for ALL of the more than 14 million children, in the U.S. alone, living with some form of neurological disorder 2. Provide families and health care professionals with up-to-date information and resources on the latest discoveries in pediatric neurology 3. Educate the public and public officials on the critical importance of funding pediatric neurological research

Last Updated: 22 Apr 2015

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Holoprosencephaly" for support, advocacy or research.

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Pediatric Brain Foundation

Pediatric Brain Foundation's Mission is Three-fold: 1. Expedite scientific research to find treatments and cures for ALL of the more than 14 million children, in the U.S. alone, living with some form of neurological disorder 2. Provide families and health care professionals with up-to-date information and resources on the latest discoveries in pediatric neurology 3. Educate the public and public officials on the critical importance of funding pediatric neurological research

http://www.pediatricbrainfoundation.org

Last Updated: 22 Apr 2015

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Holoprosencephaly" returned 136 free, full-text research articles on human participants. First 3 results:

Holoprosencephaly with agenesia of the prosencephalic ventricle.
 

Author(s): Milena Laure-Kamionowska, Krystyna Szymanska, Teresa Klepacka

Journal: Folia Neuropathol. 2015 ;53(4):387-94.

 

Malformations of the forebrain are characterized by abnormalities in size, shape, and arrangement of the cerebral hemispheres and ventricles. We present the morphological picture of a brain with failure of the forebrain complementary to holoprosencephaly coexisting with absence of ...

Last Updated: 20 Jan 2016

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[Frequency of holoprosencephaly in Chile].
 

Author(s): Julio Nazer Herrera, Lucía Cifuentes Ovalle, Andrea Cortez López

Journal: Rev Med Chil. 2015 Jul;143(7):874-9.

 

Holoprosencephaly is a structural anomaly of the brain that consists in a defect of the prosencephalon development that leads to face and neurological defects of variable intensity.

Last Updated: 12 Sep 2015

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Correlation of bispectral index (BIS) monitoring and end-tidal sevoflurane concentration in a patient with lobar holoprosencephaly.
 

Author(s): Dario Galante, Donatella Fortarezza, Maria Caggiano, Giovanni de Francisci, Dino Pedrotti, Marco Caruselli

Journal: Braz J Anesthesiol. ;65(5):379-83.

 

The bispectral index (BIS) is a parameter derived by electroencephalography (EEG) which provides a direct measurement of the effects of sedatives and anesthetics on the brain and offers guidance on the adequacy of anesthesia. The literature lacks studies on BIS monitoring in pediatric ...

Last Updated: 1 Sep 2015

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Holoprosencephaly" returned 26 free, full-text review articles on human participants. First 3 results:

Holoprosencephaly: signaling interactions between the brain and the face, the environment and the genes, and the phenotypic variability in animal models and humans.
 

Author(s): Anna Petryk, Daniel Graf, Ralph Marcucio

Journal: Wiley Interdiscip Rev Dev Biol. ;4(1):17-32.

 

Holoprosencephaly (HPE) is the most common developmental defect of the forebrain characterized by inadequate or absent midline division of the forebrain into cerebral hemispheres, with concomitant midline facial defects in the majority of cases. Understanding the pathogenesis of HPE ...

Last Updated: 16 Dec 2014

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Holoprosencephaly-polydactyly/pseudotrisomy 13: a presentation of two new cases and a review of the literature.
 

Author(s): Sophia M Bous, Benjamin D Solomon, Luitgard Graul-Neumann, Heidemarie Neitzel, Emily E Hardisty, Maximilian Muenke

Journal: Clin. Dysmorphol.. 2012 Oct;21(4):183-90.

 

Patients with a combination of holoprosencephaly and polydactyly, but with apparently normal chromosomes, may be clinically diagnosed with holoprosencephaly-polydactyly syndrome (HPS), also termed pseudotrisomy 13. However, the criteria for HPS have been controversial since the advent ...

Last Updated: 30 Aug 2012

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Holoprosencephaly: a guide to diagnosis and clinical management.
 

Author(s): Manu S Raam, Benjamin D Solomon, Maximilian Muenke

Journal: Indian Pediatr. 2011 Jun;48(6):457-66.

 

Holoprosencephaly affects 1 in 8,000 live births and is the most common structural anomaly of the developing forebrain, resulting in facial dysmorphism, neurologic impairment, and additional clinical sequelae. Given the increasing relative contribution of genetic diseases to perinatal ...

Last Updated: 11 Jul 2011

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Symptoms, Diagnosis, and Treatment

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Clinical Trial Information This information is provided by ClinicalTrials.gov

Clinical and Genetic Studies on Holoprosencephaly
 

Status: Recruiting

Condition Summary: Holoprosencephaly

 

Last Updated: 24 Jan 2017

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A Study of the Genetic Analysis of Brain Disorders
 

Status: Recruiting

Condition Summary: Brain Disorders

 

Last Updated: 24 Jan 2017

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