Septo-optic dysplasia

Common Name(s)

Septo-optic dysplasia, Septooptic Dysplasia

Septo-optic dysplasia is a disorder of early brain development. The signs and symptoms vary from person to person; however, underdevelopment (hypoplasia) of the optic nerve, abnormal formation of structures along the midline of the brain, and pituitary hypoplasia are the characteristic findings. Recurring seizures, delayed development, and abnormal movements may be present in some people with septo-optic dysplasia. Although the exact cause of septo-optic dysplasia is unknown, it is believed that both genetic and environmental factors play a role. Viruses, medications, and blood flow disruption have all been suggested as possible environmental causes. Thus far, three genes (HESX1, OTX2, and SOX2) have been associated with septo-optic dysplasia. Typically, people do not have a family history of septo-optic dysplasia. However, there have been a few cases in which multiple family members have been diagnosed. Familial cases may follow an autosomal recessive or autosomal dominant pattern of inheritance.
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Septo-optic dysplasia" 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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The MAGIC Foundation

The MAGIC Foundation Mission The MAGIC Foundation is a national non-profit organization created to provide support services for the families of children afflicted with a wide variety of chronic and/or critical disorders, syndromes and diseases that affect a child’s growth. Since its inception the Foundation has grown to include support services for adults who were also impacted by these disorders.

Last Updated: 7 Nov 2013

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Septo-optic dysplasia" 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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The MAGIC Foundation

The MAGIC Foundation Mission The MAGIC Foundation is a national non-profit organization created to provide support services for the families of children afflicted with a wide variety of chronic and/or critical disorders, syndromes and diseases that affect a child’s growth. Since its inception the Foundation has grown to include support services for adults who were also impacted by these disorders.

http://www.magicfoundation.org

Last Updated: 7 Nov 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 "Septo-optic dysplasia" returned 28 free, full-text research articles on human participants. First 3 results:

Variations in PROKR2, but not PROK2, are associated with hypopituitarism and septo-optic dysplasia.
 

Author(s): Mark J McCabe, Carles Gaston-Massuet, Louise C Gregory, Kyriaki S Alatzoglou, Vaitsa Tziaferi, Oualid Sbai, Philippe Rondard, Koh-hei Masumoto, Mamoru Nagano, Yasufumi Shigeyoshi, Marija Pfeifer, Tony Hulse, Charles R Buchanan, Nelly Pitteloud, Juan-Pedro Martinez-Barbera, Mehul T Dattani

Journal: J. Clin. Endocrinol. Metab.. 2013 Mar;98(3):E547-57.

 

Loss-of-function mutations in PROK2 and PROKR2 have been implicated in Kallmann syndrome (KS), characterized by hypogonadotropic hypogonadism and anosmia. Recent data suggest overlapping phenotypes/genotypes between KS and congenital hypopituitarism (CH), including septo-optic dysplasia (SOD).

Last Updated: 8 Mar 2013

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The association of sphenoidal encephalocele and right anophthalmia with septo-optic dysplasia: a case report.
 

Author(s): Fatih Serhat Erol, Necati Ucler, Metin Kaplan, Ilhan Yilmaz

Journal: Turk Neurosurg. 2012 ;22(3):346-8.

 

Septo-optic dysplasia (SOD) is an extremely rare congenital anomaly, characterized with optic nerve hypoplasia and absence of septum pellucidum and/or pituitary dysfunction. In addition to classical findings of SOD, we report for the first time an 11-year-old boy, with encephalocele ...

Last Updated: 5 Jun 2012

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Genetic overlap in Kallmann syndrome, combined pituitary hormone deficiency, and septo-optic dysplasia.
 

Author(s): Taneli Raivio, Magdalena Avbelj, Mark J McCabe, Christopher J Romero, Andrew A Dwyer, Johanna Tommiska, Gerasimos P Sykiotis, Louise C Gregory, Daniel Diaczok, Vaitsa Tziaferi, Mariet W Elting, Raja Padidela, Lacey Plummer, Cecilia Martin, Bihua Feng, Chengkang Zhang, Qun-Yong Zhou, Huaibin Chen, Moosa Mohammadi, Richard Quinton, Yisrael Sidis, Sally Radovick, Mehul T Dattani, Nelly Pitteloud

Journal: J. Clin. Endocrinol. Metab.. 2012 Apr;97(4):E694-9.

 

Kallmann syndrome (KS), combined pituitary hormone deficiency (CPHD), and septo-optic dysplasia (SOD) all result from development defects of the anterior midline in the human forebrain.

Last Updated: 11 Apr 2012

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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 "Septo-optic dysplasia" returned 3 free, full-text review articles on human participants. First 3 results:

[Natural course of septo-optic dysplasia: retrospective analysis of 20 cases].
 

Author(s): Miguelina León-Gonzalez, Juan J García-Peñas, Diego Puertas-Bordallo, Miguel A López-Pino, Jesús Argente-Oliver, Verónica Cantarín-Extremera

Journal: Rev Neurol. 2012 Mar;54(6):321-31.

 

Septo-optic dysplasia (SOD) is the variable combination of signs of dysgenesis of the midline of the brain, hypoplasia of the optic nerves and hypothalamus-pituitary dysfunction, which is sometimes associated with a varied spectrum of malformations of the cerebral cortex.

Last Updated: 9 Mar 2012

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Septo-optic dysplasia.
 

Author(s): Emma A Webb, Mehul T Dattani

Journal: Eur. J. Hum. Genet.. 2010 Apr;18(4):393-7.

 

This review summarises the key clinical features of septo-optic dysplasia (SOD), the significant inroads that progress in genetics has made into our understanding of the aetiology of the condition over the last decade, and the pitfalls and challenges that we face in the management ...

Last Updated: 18 Mar 2010

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Optic nerve hypoplasia: septo-optic-pituitary dysplasia syndrome.
 

Author(s): T E Acers

Journal: Trans Am Ophthalmol Soc. 1981 ;79():425-57.

 

Forty-five patients with the common clinical factor of optic nerve hypoplasia are analyzed regarding their clinical appearance, echographic and computed tomographic measurements of the optic nerves, and the correlation of anatomic size with visual function. Computed axial tomographic ...

Last Updated: 22 Jul 1982

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Symptoms, Diagnosis, and Treatment

There are currently no related results available in GeneReviews.

There are currently no related results available in Genetic Testing Registry.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

Biological Clock Dysfunction in Optic Nerve Hypoplasia
 

Status: Recruiting

Condition Summary: Biological Clock Dysfunction; Optic Nerve Hypoplasia

 

Last Updated: 7 Feb 2011

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