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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CNS Foundation

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

Last Updated: 12 Oct 2013

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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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CNS Foundation

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

http://www.cnsfoundation.org

Last Updated: 12 Oct 2013

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

FGFR1 mutations cause Hartsfield syndrome, the unique association of holoprosencephaly and ectrodactyly.
 

Author(s): Nicolas Simonis, Isabelle Migeotte, Nelle Lambert, Camille Perazzolo, Deepthi C de Silva, Boyan Dimitrov, Claudine Heinrichs, Sandra Janssens, Bronwyn Kerr, Geert Mortier, Guy Van Vliet, Philippe Lepage, Georges Casimir, Marc Abramowicz, Guillaume Smits, Catheline Vilain

Journal: J. Med. Genet.. 2013 Sep;50(9):585-92.

 

Harstfield syndrome is the rare and unique association of holoprosencephaly (HPE) and ectrodactyly, with or without cleft lip and palate, and variable additional features. All the reported cases occurred sporadically. Although several causal genes of HPE and ectrodactyly have been ...

Last Updated: 19 Aug 2013

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Congenital partial arhinia: a rare malformation of the nose coexisting with holoprosencephaly.
 

Author(s): Sahin Takcı, Ayşe Korkmaz, Pelin Ozlem Simşek-Kiper, Gülen Eda Utine, Koray Boduroğlu, Murat Yurdakök

Journal: Turk. J. Pediatr.. ;54(4):440-3.

 

Complete or partial arhinia is a rare defect of embryogenesis characterized by congenital absence of the soft tissue of the nose and nasal structures. It is generally associated with other craniofacial or somatic anomalies, including midline defects such as cleft palate, highly arched ...

Last Updated: 22 May 2013

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Holoprosencephaly: report of four cases and genotype-phenotype correlations.
 

Author(s): Francesca Lami, Diana Carli, Paola Ferrari, Monica Marini, Viola Alesi, Lorenzo Iughetti, Antonio Percesepe

Journal: J. Genet.. 2013 Apr;92(1):97-101.

 

Last Updated: 3 May 2013

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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 21 free, full-text review articles on human participants. First 3 results:

Aberrant forebrain signaling during early development underlies the generation of holoprosencephaly and coloboma.
 

Author(s): Patricia A Gongal, Curtis R French, Andrew J Waskiewicz

Journal: Biochim. Biophys. Acta. 2011 Mar;1812(3):390-401.

 

In this review, we highlight recent literature concerning the signaling mechanisms underlying the development of two neural birth defects, holoprosencephaly and coloboma. Holoprosencephaly, the most common forebrain defect, occurs when the cerebral hemispheres fail to separate and ...

Last Updated: 24 Jan 2011

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Holoprosencephaly and craniosynostosis: A report of two siblings and review of the literature.
 

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

Journal: Am J Med Genet C Semin Med Genet. 2010 Feb;154C(1):176-82.

 

Holoprosencephaly (HPE) and craniosynostosis are separate conditions that have occasionally been observed to occur simultaneously in the same patient. Here, we compile patients with both conditions who have been documented in the literature thus far; moreover, we report on two additional ...

Last Updated: 1 Feb 2010

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Holoprosencephaly and agnathia spectrum: Presentation of two new patients and review of the literature.
 

Author(s): Emily F Kauvar, Benjamin D Solomon, Cynthia J R Curry, Anthonie J van Essen, Nicole Janssen, Amalia Dutra, Erich Roessler, Maximilian Muenke

Journal: Am J Med Genet C Semin Med Genet. 2010 Feb;154C(1):158-69.

 

Holoprosencephaly (HPE), the most common developmental disorder of the human forebrain, is occasionally associated with the spectrum of agnathia, or virtual absence of the mandible. This condition results in a constellation of structural cerebral and craniofacial abnormalities. Here ...

Last Updated: 1 Feb 2010

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Symptoms, Diagnosis, and Treatment

There are currently no related results available in GeneReviews.

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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: 25 Jun 2014

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A Study of the Genetic Analysis of Brain Disorders
 

Status: Recruiting

Condition Summary: Brain Disorders

 

Last Updated: 14 Mar 2014

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Genetic Analysis of Brain Disorders
 

Status: Recruiting

Condition Summary: Brain Disorders

 

Last Updated: 3 Mar 2008

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