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 134 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 25 free, full-text review articles on human participants. First 3 results:

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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Holoprosencephaly: recommendations for diagnosis and management.
 

Author(s): Emily F Kauvar, Maximilian Muenke

Journal: Curr. Opin. Pediatr.. 2010 Dec;22(6):687-95.

 

This review presents recent advances in our understanding and clinical management of holoprosencephaly (HPE). HPE is the most common developmental disorder of the human forebrain and involves incomplete or failed separation of the cerebral hemispheres. The epidemiology, clinical features, ...

Last Updated: 24 May 2011

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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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Genetic Analysis of Brain Disorders
 

Status: Recruiting

Condition Summary: Brain Disorders

 

Last Updated: 3 Mar 2008

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A Study of the Genetic Analysis of Brain Disorders
 

Status: Recruiting

Condition Summary: Brain Disorders

 

Last Updated: 9 Aug 2014

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