National Center for Advancing and Translational Sciences Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences

Andermann syndrome


Other Names:
Charlevoix disease; Corpus callosum agenesis neuronopathy; Polyneuropathy, sensorimotor, with or without agenesis of the corpus callosum; Charlevoix disease; Corpus callosum agenesis neuronopathy; Polyneuropathy, sensorimotor, with or without agenesis of the corpus callosum; Agenesis of corpus callosum with neuronopathy; ACCPN; Agenesis of corpus callosum with peripheral neuropathy; Agenesis of corpus callosum with polyneuropathy; Hereditary motor and sensory neuropathy with agenesis of the corpus callosum; HMSN/ACC See More
Categories:
Andermann syndrome (AS) is a disorder that damages the nerves used for muscle movement and sensation (motor and sensory neuropathy). Agenesis or malformation of the corpus callosum also occurs in most people with this disorder. Signs and symptoms of the disorder include areflexia; hypotonia; amyotrophy; severe progressive weakness and loss of sensation in the limbs; and tremors. Affected individuals typically begin walking late and lose this ability by their teenage years. Other features may include intellectual disability, seizures, contractures, scoliosis, various psychiatric symptoms, various atypical physical features, and cranial nerve problems that cause facial muscle weakness, ptosis, and difficulty following movements with the eyes (gaze palsy). It is caused by mutations in the SLC12A6 gene and is inherited in an autosomal recessive manner. AS is associated with a shortened life expectancy, but affected individuals typically live into adulthood.[1]
Last updated: 3/3/2011

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.

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Medical Terms Other Names
Learn More:
HPO ID
80%-99% of people have these symptoms
Agenesis of corpus callosum 0001274
EEG abnormality 0002353
Global developmental delay 0001263
Hemiplegia/hemiparesis
Paralysis or weakness of one side of body
0004374
Intellectual disability
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation
[ more ] 		0001249
Microcephaly
Abnormally small skull
Decreased circumference of cranium
Decreased size of skull
Reduced head circumference
Small head circumference
[ more ] 		0000252
Seizure 0001250
30%-79% of people have these symptoms
Aqueductal stenosis 0002410
5%-29% of people have these symptoms
Abnormality of retinal pigmentation 0007703
Craniosynostosis 0001363
Myopia
Close sighted
Near sighted
Near sightedness
Nearsightedness
[ more ] 		0000545
Nystagmus
Involuntary, rapid, rhythmic eye movements
0000639
Strabismus
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 syndactyly
Webbed 2nd and 3rd toes
0004691
Areflexia
Absent tendon reflexes
0001284
Autosomal recessive inheritance 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 contracture
Flexed joint that cannot be straightened
0001371
Generalized hypotonia
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 protein 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
Ptosis
Drooping upper eyelid
0000508
Respiratory tract infection
Respiratory infection
0011947
Restrictive ventilatory defect
Stiff lung or chest wall causing decreased lung volume
0002091
Scoliosis 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
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Last updated: 7/1/2020

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.

If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.

If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.

You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.

Healthcare Resources

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

Organizations Providing General Support

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

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.

Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know. Submit a new question

  • My brother is suffering from Andermann syndrome. Since a couple of years ago he is also suffering from psychosis. Do you have any information about how long this is going to last? In Holland there is little information about this disease. See answer


  1. Andermann syndrome. Genetics Home Reference. June 2008; http://ghr.nlm.nih.gov/condition/andermann-syndrome. Accessed 3/3/2011.