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Disease Profile
Septo-optic dysplasia spectrum
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
Unknown
Age of onset
Infancy
ICD-10
Q04.4
Inheritance
Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease.
Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype.
X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.
Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.
Not applicable
Other names (AKA)
Septooptic dysplasia; De morsier syndrome; Septo-optic dysplasia with growth hormone deficiency;
Categories
Congenital and Genetic Diseases; Endocrine Diseases; Eye diseases;
Summary
Septo-optic dysplasia is a disorder of early brain and eye development. The most common features are underdevelopment (hypoplasia) of the eye (optic) nerve, abnormal formation of structures along the midline of the brain such as the absence of the septum pellucidum and the
Although the cause is unknown in most cases, very few people with SOD may have variations (
Symptoms
- 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)Seizures
Other common features are: [1][3][2][4][5]
Short stature due to lack of growth hormone deficiency (the most common hormonal abnormality)- Abnormal thirst, hunger, and body temperature due to underdevelopment of the hypothalamus, a region of the brain responsible for regulating basic body functions.
Low blood sugar - Genital abnormalities
- Problems with sexual development or precocious puberty
- Sleep difficulties
- Obesity
Jaundice Intellectual disability or learning disabilitiesDevelopmental delay related to vision impairment or neurological problems- Anosmia
- Heart problems
Pituitary
This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.
Medical Terms | Other Names |
Learn More:
HPO ID
|
---|---|---|
80%-99% of people have these symptoms | ||
Septo-optic dysplasia | 0100842 | |
Visual impairment |
Impaired vision
Loss of eyesight
Poor vision
[ more ] |
0000505 |
30%-79% of people have these symptoms | ||
Agenesis of |
0001274 | |
Anterior pituitary hypoplasia |
Underdeveloped pituitary gland
|
0010627 |
Cleft roof of mouth
|
0000175 | |
Cryptorchidism |
Undescended testes
Undescended testis
[ more ] |
0000028 |
Hemiplegia/hemiparesis |
Paralysis or weakness of one side of body
|
0004374 |
Hypoplasia of penis |
Underdeveloped penis
|
0008736 |
Nystagmus |
Involuntary, rapid, rhythmic eye movements
|
0000639 |
Seizure | 0001250 | |
Short stature |
Decreased body height
Small stature
[ more ] |
0004322 |
Cross-eyed
Squint
Squint eyes
[ more ] |
0000486 | |
5%-29% of people have these symptoms | ||
Abnormality of cardiovascular system morphology | 0030680 | |
Anosmia |
Lost smell
|
0000458 |
Aplasia/Hypoplasia of the cerebellum |
Absent/small cerebellum
Absent/underdeveloped cerebellum
[ more ] |
0007360 |
0000717 | ||
Constipation | 0002019 | |
Diabetes insipidus | 0000873 | |
Dry skin | 0000958 | |
Esophageal atresia |
Birth defect in which part of esophagus did not develop
|
0002032 |
Fatigue |
Tired
Tiredness
[ more ] |
0012378 |
Global developmental delay | 0001263 | |
Hypohidrosis |
Decreased ability to sweat
Decreased sweating
Sweating, decreased
[ more ] |
0000966 |
Intellectual disability |
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation
[ more ] |
0001249 |
Maternal diabetes |
gestational diabetes
|
0009800 |
Obesity |
Having too much body fat
|
0001513 |
Polydipsia |
Extreme thirst
|
0001959 |
Sensorineural hearing impairment | 0000407 | |
Sleep disturbance |
Difficulty sleeping
Trouble sleeping
[ more ] |
0002360 |
Tracheoesophageal fistula | 0002575 | |
Percent of people who have these symptoms is not available through HPO | ||
Absent septum pellucidum | 0001331 | |
0000006 | ||
0000007 | ||
Growth hormone deficiency | 0000824 | |
Optic disc hypoplasia | 0007766 | |
Optic nerve hypoplasia | 0000609 | |
More than five fingers or toes on hands or feet
|
0010442 | |
Psychomotor retardation | 0025356 | |
Short finger |
Stubby finger
|
0009381 |
Cause
At least three
Researchers are looking for additional genetic changes that contribute to septo-optic dysplasia.[1]
Diagnosis
Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.
Testing Resources
- The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.
Treatment
Related diseases
Related diseases are conditions that have similar signs and symptoms. A health care provider may consider these conditions in the table below when making a diagnosis. Please note that the table may not include all the possible conditions related to this disease.
Conditions with similar signs and symptoms from Orphanet
|
---|
Differential diagnoses include congenital hypopituitarism and holoprosencephaly (see these terms).
Visit the Orphanet disease page for more information.
|
Organizations
Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.
Organizations Supporting this Disease
-
The MAGIC Foundation
4200 Cantera Dr. #106
Warrenville, IL 60555
Toll-free: 800-362-4423
Telephone: 630-836-8200
Fax: 630-836-8181
E-mail: [email protected]
Website: https://www.magicfoundation.org/
Social Networking Websites
- Visit the following Facebook groups related to Septo-optic dysplasia spectrum:
SOD/ONH -UKSEPTO OPTIC DYSPLASIA & OPTIC NERVE HYPOPLASIA
Organizations Providing General Support
-
American Foundation for the Blind
1401 South Clark Street
Suite 730
Arlington, VA 22202
Toll-free: 800-232-5463
Telephone: 212-502-7600
E-mail: [email protected]
Website: https://www.afb.org/ -
Human Growth Foundation
997 Glen Cove Avenue, Suite 5
Glen Head, NY 11545
Toll-free: 1-800-451-6434
Fax: 516-671-4055
E-mail: [email protected]
Website: https://www.hgfound.org/
Learn more
These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.
Where to Start
- Genetics Home Reference (GHR) contains information on Septo-optic dysplasia spectrum. This website is maintained by the National Library of Medicine.
- The National Institute of Neurological Disorders and Stroke (NINDS) collects and disseminates research information related to neurological disorders. Click on the link to view information on this topic.
- The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.
In-Depth Information
- The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
- Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine.
- Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
- PubMed is a searchable database of medical literature and lists journal articles that discuss Septo-optic dysplasia spectrum. Click on the link to view a sample search on this topic.
References
- Septo-optic dysplasia. Genetics Home Reference. March 2010; https://ghr.nlm.nih.gov/condition/septo-optic-dysplasia.
- Webb EA & Dattani MT. Septo-optic dysplasia. European Journal of Human Genetics. 2010; 18(4):393-397. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2987262/.
- Borchert MS. Optic Nerve Hypoplasia. NORD. 2015; https://rarediseases.org/rare-diseases/optic-nerve-hypoplasia/.
- Saranac L & Gucev Z. New insights into septo-optic dysplasia. Pril (Makedon Akad Nauk Umet Odd Med Nauki). 2014; 35(1):123-7. https://www.ncbi.nlm.nih.gov/pubmed/24802313.
- Garne E, Rissmann A, Addor MC et al. Epidemiology of septo-optic dysplasia with focus on prevalence and maternal age A EUROCAT study.. Eur J Med Genet. May 10, 2018; 1769-7212(18):30149-6. https://www.ncbi.nlm.nih.gov/pubmed/29753093.
- NINDS Septo-Optic Dysplasia Information Page. National Institute of Neurological Disorders and Stroke (NINDS). https://www.ninds.nih.gov/Disorders/All-Disorders/Septo-Optic-Dysplasia-Information-Page. Accessed 1/25/2017.
- Dattani M, Webb E. Septo-optic dysplasia spectrum. Orphanet. February 2010; https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3157.
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