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).
 

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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.

Logo
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 144 free, full-text research articles on human participants. First 3 results:

Pancreas and gallbladder agenesis in a newborn with semilobar holoprosencephaly, a case report.
 

Author(s): Robert Hilbrands, Kathelijn Keymolen, Alex Michotte, Miriam Marichal, Filip Cools, Anieta Goossens, Peter In't Veld, Jean De Schepper, Andrew Hattersley, Harry Heimberg

Journal:

 

Pancreatic agenesis is an extremely rare cause of neonatal diabetes mellitus and has enabled the discovery of several key transcription factors essential for normal pancreas and beta cell development.

Last Updated: 20 May 2017

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Semilobar holoprosencephaly in a 12-month-old baby boy born to a primigravida patient with type 1 diabetes mellitus: a case report.
 

Author(s): Pedro Pallangyo, Frederick Lyimo, Paulina Nicholaus, Hilda Makungu, Maria Mtolera, Isaac Mawenya

Journal:

 

Holoprosencephaly is a rare spectrum of cephalic disorders resulting from a failure or incomplete division of the embryonic forebrain into distinct cerebral hemispheres. It is the most common brain malformation with an incidence of 1:250 during embryogenesis; however, owing to the ...

Last Updated: 21 Dec 2016

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Six3 dosage mediates the pathogenesis of holoprosencephaly.
 

Author(s): Xin Geng, Sandra Acosta, Oleg Lagutin, Hyea Jin Gil, Guillermo Oliver

Journal: Development. 2016 Dec;143(23):4462-4473.

 

Holoprosencephaly (HPE) is defined as the incomplete separation of the two cerebral hemispheres. The pathology of HPE is variable and, based on the severity of the defect, HPE is divided into alobar, semilobar, and lobar. Using a novel hypomorphic Six3 allele, we demonstrate in mice ...

Last Updated: 22 Oct 2016

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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 28 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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Clinical Trial Information This information is provided by ClinicalTrials.gov

Clinical and Genetic Studies on Holoprosencephaly
 

Status: Recruiting

Condition Summary: Holoprosencephaly

 

Last Updated: 18 Oct 2017

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A Study of the Genetic Analysis of Brain Disorders
 

Status: Recruiting

Condition Summary: Brain Disorders

 

Last Updated: 5 Oct 2017

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