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.

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

Last Updated: 22 Apr 2015

View Details
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: 18 Jun 2015

View Details

 

General Support Organizations

Not finding the support you need? Show General Support Organizations

 
 
Top

How do you compare to others with this condition?

Privately answer questions about your health. Let resources, you select, come to you.

Anonymously share and see how your answers compare with others with this condition while privately providing key pieces of information to medical researchers, disease advocacy groups, and others ONLY YOU select to help speed up cures and better alternatives.

 
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Septo-optic dysplasia" 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

View Details
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: 18 Jun 2015

View Details

 

General Support Organizations

Not finding the support you need? Show General Support Organizations

 
 
 
 
Top

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

Acceleration of puberty during growth hormone therapy in a child with septo-optic dysplasia.
 

Author(s): Gönül Catlı, Ayça Altıncık, Ahmet Anık, Korcan Demir, Handan Güleryüz, Ayhan Abacı, Ece Böber

Journal: J Clin Res Pediatr Endocrinol. 2014 ;6(2):116-8.

 

Septo-optic dysplasia (SOD) is a heterogeneous disorder of the central nervous system characterized by various endocrinological and neurological findings. It is a complex disease caused by a combination of genetic and environmental factors. Herein, we report the case of a 5.5-year-old ...

Last Updated: 17 Jun 2014

Go To URL
Septo-optic dysplasia plus: a case report.
 

Author(s): Lepsa Zoric, Simon Nikolic, Milan Stojcic, Dragana Zoric, Sinisa Jakovljevic

Journal:

 

Septo-optic dysplasia, also referred to as de Morsier syndrome, is a congenital condition characterized by classic triad features: midline brain abnormalities, optic nerve hypoplasia and pituitary endocrine dysfunction. Sometimes, other various malformations appear within syndrome.

Last Updated: 8 Apr 2014

Go To URL
Septo-optic dysplasia: fitting the pieces together.
 

Author(s): Nélia Ferraria, Sofia Castro, Daniela Amaral, Lurdes Lopes

Journal:

 

A 7-year-old boy was admitted for a general tonic-clonic seizure with severe hypoglycaemia (1.39 mmol/l). His medical history was remarkable for a congenital left eye strabismus, unilateral cryptorchidism and three previous episodes of hypoglycaemic seizures with inconclusive metabolical ...

Last Updated: 27 May 2013

Go To URL

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 4 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

Go To URL
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

Go To URL
Septo-optic dysplasia - novel insights into the aetiology.
 

Author(s): Daniel Kelberman, Mehul Tulsidas Dattani

Journal: Horm. Res.. 2008 ;69(5):257-65.

 

Septo-optic dysplasia (SOD) is a highly heterogeneous condition comprising a variable phenotype of optic nerve hypoplasia, midline brain abnormalities and pituitary hypoplasia with consequent endocrine deficits. The majority of cases are sporadic and several aetiologies have been ...

Last Updated: 16 May 2008

Go To URL
 
 
Top

Symptoms, Diagnosis, and Treatment

There are currently no related results available in GeneReviews.

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

 
 
Top

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

Go to URL