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NINDS Disorders is an index of neurological conditions provided by the National Institute of Neurological Disorders and Stroke. This valuable tool offers detailed descriptions, facts on treatment and prognosis, and patient organization contact information for over 500 identified neurological disorders.

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Septo-Optic Dysplasia

Septo-optic dysplasia (SOD) is a rare disorder characterized by abnormal development of the optic disk, pituitary deficiencies, and often agenesis (absence) of the septum pellucidum (the part of the brain that separates the anterior horns or the lateral ventricles of the brain). Symptoms may include blindness in one or both eyes, pupil dilation in response to light, nystagmus (a rapid, involuntary to-and-fro movement of the eyes), inward and outward deviation of the eyes, hypotonia (low muscle tone), and hormonal problems. Seizures may also occur. In a few cases, jaundice (prolonged yellow skin discoloration) may occur at birth. Intellectual problems vary in severity among individuals. While some children with SOD have normal intelligence, others have learning disabilities and mental retardation. Most, however, are developmentally delayed due to vision impairment or neurological problems.

Treatment

Treatment for SOD is symptomatic. Hormone deficiencies may be treated with hormone replacement therapy. The optical problems associated with SOD are generally not treatable. Vision, physical, and occupational therapies may be required.

Prognosis

The prognosis for individuals with SOD varies according to the presence and severity of symptoms.

Research

The NINDS supports and conducts neurogenetic research which focuses on identifying and studying the genes involved in normal brain development. The knowledge gained from these fundamental studies provides the foundation for understanding how this process can go awry and, thus, may eventually give clues to understanding disorders such as SOD.

View a list of studies currently seeking patients.

View more studies on this condition.

Organizations

March of Dimes

Works to improve the health of babies by preventing birth defects and infant mortality through programs of research, community services, education, and advocacy.

1275 Mamaroneck Avenue
White Plains, NY 10605
Tel: 914-997-4488 888-MODIMES (663-4637)
Fax: 914-428-8203

National Eye Institute (NEI)

National Institutes of Health, DHHS
31 Center Drive, Rm. 6A32 MSC 2510
Bethesda, MD 20892-2510
Tel: 301-496-5248

National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK)

National Institutes of Health, DHHS
31 Center Drive, Rm. 9A06 MSC 2560
Bethesda, MD 20892-2560
Tel: 301-496-3583 TTY: 866-569-1162

FOCUS Families

Worldwide organization that helps parents and caregivers with children who have Optic Nerve Hypoplasia (ONH) and Septo-Optic Dysplasia, (SOD), also known as deMorsier syndrome. Offers a journal, national convention, regional family advisors, and educational materials.

228 E. Palomino Court
Gilbert, AZ 85296
Tel: 866-FOCUS-50 (866-362-8750)
Fax: 866-362-8750

Magic Foundation [Growth Disorders]

National nonprofit organization dedicated to helping children whose physical growth is affected by a medical problem.

6645 West North Avenue
Oak Park, IL 60302
Tel: 708-383-0808 800-3-MAGIC3 (362-4423)
Fax: 708-383-0899

National Organization for Rare Disorders (NORD)

Federation of voluntary health organizations dedicated to helping people with rare "orphan" diseases and assisting the organizations that serve them. Committed to the identification, treatment, and cure of rare disorders through programs of education, advocacy, research, and service.

55 Kenosia Avenue
Danbury, CT 06810
Tel: 203-744-0100 Voice Mail 800-999-NORD (6673)
Fax: 203-798-2291

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