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 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. The prognosis for individuals with SOD varies according to the presence and severity of symptoms. 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. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?CMD=search&term=septo-optic+dysplasia+AND+human[mh]+AND+english[la]&db=PubMed&orig_db=PubMed&filters=on&pmfilter_EDatLimit=5+Years 1 http://clinicaltrials.gov/ct2/results?term= /disorders/septo_optic_dysplasia/pubs_septo_optic_dysplasia.htm /disorders/septo_optic_dysplasia/xml_septo_optic_dysplasia.xml xml_septo_optic_dysplasia.xml De Morsier's Syndrome V41 March of Dimes

1275 Mamaroneck Avenue

White Plains NY 10605 askus@marchofdimes.com http://www.marchofdimes.com 914-997-4488 888-MODIMES (663-4637) 914-428-8203 Works to improve the health of babies by preventing birth defects and infant mortality through programs of research, community services, education, and advocacy. V91 National Organization for Rare Disorders (NORD)

55 Kenosia Avenue

Danbury CT 06810 orphan@rarediseases.org http://www.rarediseases.org 203-744-0100 Voice Mail 800-999-NORD (6673) 203-798-2291 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. V644 National Eye Institute (NEI)

National Institutes of Health, DHHS

31 Center Drive, Rm. 6A32 MSC 2510 Bethesda MD 20892-2510 2020@nei.nih.gov http://www.nei.nih.gov 301-496-5248 V629 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 http://www.niddk.nih.gov 301-496-3583 TTY: 866-569-1162 V777 FOCUS Families

228 E. Palomino Court

Gilbert AZ 85296 support_families@focusfamilies.org http://www.focusfamilies.org 866-FOCUS-50 (866-362-8750) 866-362-8750 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. V869 Magic Foundation [Growth Disorders]

6645 West North Avenue

Oak Park IL 60302 http://www.magicfoundation.org 708-383-0808 800-3-MAGIC3 (362-4423) 708-383-0899 National nonprofit organization dedicated to helping children whose physical growth is affected by a medical problem.