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$Title{Septo-Optic Dysplasia}
$Subject{Septo-Optic Dysplasia De Morsier Disease De Morsier Syndrome
Dwarfism-Septo-Optic Dysplasia Absent Septum Pellucidum with Porencephalies}
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Copyright (C) 1988, 1989 National Organization for Rare Disorders, Inc.

496:
Septo-Optic Dysplasia

** IMPORTANT **
It is possible the main title of the article (Septo-Optic Dysplasia) is
not the name you expected.  Please check the SYNONYMS listing on the next
page to find alternate names, disorder subdivisions, and related disorders
covered by this article.

Synonyms

     De Morsier Disease
     De Morsier Syndrome
     Dwarfism-Septo-Optic Dysplasia

Information on the following disorder may be found in the Related
Disorders section of this report:

     Absent Septum Pellucidum with Porencephalies

General Discussion

** REMINDER **
The information contained in the Rare Disease Database is provided for
educational purposes only.  It should not be used for diagnostic or treatment
purposes.  If you wish to obtain more information about this disorder, please
contact your personal physician and/or the agencies listed in the "Resources"
section of this report.

Septo-Optic Dysplasia is a birth defect characterized by a malformed optic
disk, pituitary deficiencies, and often the absence of the "septum pellucidum"
which separates the anterior horns of the lateral ventricles of the brain.  As
a consequence of these abnormalities visual impairment and/or deviation of the
eyes, and deficiencies of pituitary hormones such as adrenocorticotropic
hormone (ACTH), prolactin, thyrotropin releasing hormone and/or growth hormone
may occur.

Symptoms

Symptoms of Septo-Optic Dysplasia are present at birth.  The primary symptom
is decreased sharpness of vision.  An involuntary rapid horizontal, vertical,
or rotatory movement of the eyeballs (nystagmus) may also occur and the
response of the pupils to light may vary among patients.  Deviation of the
eyes inward and outward (esotropia and exotropia) sometimes also occur.

The extent of pituitary hormone deficiency may vary.  In a few cases
prolonged yellow skin discoloration (jaundice) occurs at birth.  Mental
retardation or learning disabilities may also occur.  If growth hormone
deficiency is not treated during childhood, the child's growth may be stunted.

Causes

The cause of Septo-Optic Dysplasia is not known.  There is no evidence that
this is a hereditary disorder.

Affected Population

Children born with Septo-Optic Dysplasia are often first born children of
young mothers.  This very rare disorder affects males and females in equal
numbers.

Related Disorders

Symptoms of the following disorder may resemble those of Septo-Optic
Dysplasia.  Comparisons may be useful for a differential diagnosis:

Absent Septum Pellucidum with Porencephalies is a rare disorder
characterized by atrophy of one part of the brain (hemiatrophy), rapid
movements of the eye (nystagmus), seizures and short stature.  These symptoms
are present at birth.

Therapies:  Standard

Treatment for Septo-Optic Dysplasia is symptomatic and supportive.
Deficiencies of pituitary hormones such as ACTH may be treated by hormone
replacement therapy such as synthetic ACTH or cortisone, and/or human growth
hormone.

Therapies:  Investigational

This disease entry is based upon medical information available through
September 1989.  Since NORD's resources are limited, it is not possible to
keep every entry in the Rare Disease Database completely current and
accurate.  Please check with the agencies listed in the Resources section for
the most current information about this disorder.

Resources

For more information on Septo-Optic Dysplasia, please contact:

     National Organization for Rare Disorders (NORD)
     P.O. Box 8923
     New Fairfield, CT  06812-1783
     (203) 746-6518

     NIH/National Institute of Neurological Disorders & Stroke (NINDS)
     9000 Rockville Pike
     Bethesda, MD  20892
     (301) 496-5751
     (800) 352-9424

For genetic information and genetic counseling referrals, please contact:

     March of Dimes Birth Defects Foundation
     1275 Mamaroneck Avenue
     White Plains, NY  10605
     (914) 428-7100

     Alliance of Genetic Support Groups
     35 Wisconsin Circle, Suite 440
     Chevy Chase, MD  20815
     (800) 336-GENE
     (301) 652-5553

References

HORMONAL, METABOLIC, AND NEURORADIOLOGIC ABNORMALITIES ASSOCIATED WITH
SEPTO-OPTIC DYSPLASIA:  S.A. Arslanian, et al.; Acta Endocrinol (Copenh)
(October 1984:  issue 107(2)).  Pp. 282-288.

ABSENCE OF THE SEPTUM PELLUCIDUM.  OVERLAPPING CLINICAL SYNDROMES:  S.A.
Morgan, et al.; Archives Neurol (August 1985:  issue 42(8)).  Pp. 769-770.

MENDELIAN INHERITANCE IN MAN, 7th ed.:  Victor A. McKusick; Johns
Hopkins University Press, 1986.  P. 673.