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Disease Profile
Andermann syndrome
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.
<1 / 1 000 000
Age of onset
Neonatal
ICD-10
G60.0
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)
Charlevoix disease; Corpus callosum agenesis neuronopathy; Polyneuropathy, sensorimotor, with or without agenesis of the corpus callosum;
Categories
Congenital and Genetic Diseases; Nervous System Diseases
Summary
Andermann
Symptoms
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 | ||
| Agenesis of |
0001274 | |
| 0002353 | ||
| Global |
0001263 | |
| Hemiplegia/hemiparesis |
Paralysis or weakness of one side of body
|
0004374 |
|
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation
[ more ] |
0001249 | |
|
Abnormally small skull
Decreased circumference of cranium
Decreased size of skull
Reduced head circumference
Small head circumference
[ more ] |
0000252 | |
| 0001250 | ||
| 30%-79% of people have these symptoms | ||
| Aqueductal stenosis | 0002410 | |
| 5%-29% of people have these symptoms | ||
| Abnormality of retinal pigmentation | 0007703 | |
| 0001363 | ||
| Myopia |
Close sighted
Near sighted
Near sightedness
Nearsightedness
[ more ] |
0000545 |
|
Involuntary, rapid, rhythmic eye movements
|
0000639 | |
|
Cross-eyed
Squint
Squint eyes
[ more ] |
0000486 | |
| Turricephaly |
Tall shaped skull
Tower skull shape
[ more ] |
0000262 |
| Percent of people who have these symptoms is not available through HPO | ||
| 2-3 toe |
Webbed 2nd and 3rd toes
|
0004691 |
| Areflexia |
Absent tendon reflexes
|
0001284 |
| 0000007 | ||
| Axonal degeneration/regeneration | 0003378 | |
| Brachycephaly |
Short and broad skull
|
0000248 |
| Decreased motor nerve conduction velocity | 0003431 | |
| Decreased sensory nerve conduction velocity | 0003448 | |
| EMG: chronic denervation signs | 0003444 | |
| Facial asymmetry |
Asymmetry of face
Crooked face
Unsymmetrical face
[ more ] |
0000324 |
| Facial diplegia | 0001349 | |
| Flexion |
Flexed joint that cannot be straightened
|
0001371 |
| Generalized |
Decreased muscle tone
Low muscle tone
[ more ] |
0001290 |
| High palate |
Elevated palate
Increased palatal height
[ more ] |
0000218 |
| Hypertelorism |
Wide-set eyes
Widely spaced eyes
[ more ] |
0000316 |
| Hypoplasia of the maxilla |
Decreased size of maxilla
Decreased size of upper jaw
Maxillary deficiency
Maxillary retrusion
Small maxilla
Small upper jaw
Small upper jaw bones
Upper jaw deficiency
Upper jaw retrusion
[ more ] |
0000327 |
| Increased CSF |
0002922 | |
| Limb muscle weakness |
Limb weakness
|
0003690 |
| Limb tremor |
Involuntary shaking of limb
|
0200085 |
| Long face |
Elongation of face
Increased height of face
Increased length of face
Vertical elongation of face
Vertical enlargement of face
Vertical overgrowth of face
[ more ] |
0000276 |
| Low anterior hairline |
Low frontal hairline
Low-set frontal hairline
[ more ] |
0000294 |
| Macrotia |
Large ears
|
0000400 |
| Motor delay | 0001270 | |
| Motor polyneuropathy | 0007178 | |
| Narrow forehead |
Decreased width of the forehead
|
0000341 |
| Neonatal hypotonia |
Low muscle tone, in neonatal onset
|
0001319 |
| Onion bulb formation | 0003383 | |
| Peripheral axonal neuropathy | 0003477 | |
| Polyneuropathy |
Peripheral nerve disease
|
0001271 |
| Progressive |
Worsens with time
|
0003676 |
| Psychosis | 0000709 | |
|
Drooping upper eyelid
|
0000508 | |
| Respiratory tract infection |
Respiratory infection
|
0011947 |
| Restrictive ventilatory defect |
Stiff lung or chest wall causing decreased lung volume
|
0002091 |
| 0002650 | ||
| Sensory neuropathy |
Damage to nerves that sense feeling
|
0000763 |
| Short nose |
Decreased length of nose
Shortened nose
[ more ] |
0003196 |
| Skeletal muscle atrophy |
Muscle degeneration
Muscle wasting
[ more ] |
0003202 |
| Tapered finger |
Tapered fingertips
Tapering fingers
[ more ] |
0001182 |
| Ventriculomegaly | 0002119 | |
| Wide nasal bridge |
Broad nasal bridge
Broad nasal root
Broadened nasal bridge
Increased breadth of bridge of nose
Increased breadth of nasal bridge
Increased width of bridge of nose
Increased width of nasal bridge
Nasal bridge broad
Wide bridge of nose
Widened nasal bridge
[ more ] |
0000431 |
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.
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
-
National Organization of Disorders of the Corpus Callosum
PMB 363
18032-C Lemon Drive
Yorba Linda, CA 92886
Telephone: +1-714-747-0063
Fax: +1-714-693-0808
E-mail: info@nodcc.org
Website: https://nodcc.org/
Organizations Providing General Support
-
American Association on Intellectual and Developmental Disabilities
501 3rd Street NW
Suite 200
Washington, DC 20001
Toll-free: (800) 424-3688
Telephone: (202) 387-1968
Fax: (202) 387-2193
Website: https://www.aaidd.org -
Mental Health America (MHA)
500 Montgomery Street
Suite 820
Alexandria, VA 22314
Toll-free: 1-800-969-6642
Telephone: +1-703-684-7722
Fax: +1-703-684-5968
E-mail: https://www.mhanational.org/get-involved/contact-us
Website: https://www.mhanational.org/ -
The Society for Developmental and Behavioral Pediatrics
6728 Old McLean Village Drive
McLean, VA 22101
Telephone: 703-556-9222
E-mail: info@sdbp.org
Website: https://www.sdbp.org/index.cfm
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 Andermann syndrome. This website is maintained by the National Library of Medicine.
In-Depth Information
- GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions.
- 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 Andermann syndrome. Click on the link to view a sample search on this topic.
References
- Andermann syndrome. Genetics Home Reference. June 2008; https://ghr.nlm.nih.gov/condition/andermann-syndrome. Accessed 3/3/2011.
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