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.

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

[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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The human brain and face: mechanisms of cranial, neurological and facial development revealed through malformations of holoprosencephaly, cyclopia and aberrations in chromosome 18.
 

Author(s): Marjorie C Gondré-Lewis, Temitayo Gboluaje, Shaina N Reid, Stephen Lin, Paul Wang, William Green, Rui Diogo, Marie N Fidélia-Lambert, Mary M Herman

Journal: J. Anat.. 2015 Sep;227(3):255-67.

 

The study of inborn genetic errors can lend insight into mechanisms of normal human development and congenital malformations. Here, we present the first detailed comparison of cranial and neuro pathology in two exceedingly rare human individuals with cyclopia and alobar holoprosencephaly ...

Last Updated: 17 Aug 2015

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Lip Repair Surgery for Bilateral Cleft Lip and Palate in a Patient Diagnosed with Trisomy 13 and Holoprosencephaly.
 

Author(s): Tadashi Akamatsu, Ushio Hanai, Serina Nakajima, Megumi Kobayashi, Muneo Miyasaka, Shinichi Matsuda, Mariko Ikegami

Journal:

 

We report a case of lip repair surgery performed for bilateral cleft lip and palate in a patient diagnosed with trisomy 13 and holoprosencephaly. At the age of 2 years and 7 months, the surgery was performed using a modified De Hann design under general anesthesia. The operation was ...

Last Updated: 7 Jul 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 29 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: 14 Apr 2016

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A Study of the Genetic Analysis of Brain Disorders
 

Status: Recruiting

Condition Summary: Brain Disorders

 

Last Updated: 29 Jul 2015

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