Christianson syndrome

Title

Other Names:

Intellectual disability x-linked syndromic Christianson type; MRXS Christianson; Angelman-like syndrome x-linked; Intellectual disability x-linked syndromic Christianson type; MRXS Christianson; Angelman-like syndrome x-linked; Intellectual disability microcephaly epilepsy and ataxia syndrome; X-linked Angelman-like syndrome; X-linked intellectual disability - craniofacial dysmorphism - epilepsy - ophthalmoplegia - cerebellar atrophy; X-linked intellectual disability, South African type; X-linked intellectual disability-craniofacial dysmorphism-epilepsy-ophthalmoplegia-cerebellar atrophy syndrome See More

Categories:

Congenital and Genetic Diseases; Nervous System Diseases

Summary Summary

Christianson syndrome is an X-linked syndrome associated with intellectual disability, microcephaly, seizures, ataxia, and absent speech.^[1]^[2] Many individuals with this condition have a happy demeanor with frequent smiling and unprovoked laughter, similar to those with Angelman syndrome.^[1] Christianson syndrome is caused by mutations in the SLC9A6 gene, which is located within the q24-q27 interval of the X chromosome.^[1] There appears to be a range of phenotypes in carrier females, from intellectual disability to absence of symptoms.^[1]^[2]

Last updated: 1/26/2015

Symptoms 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.

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Medical Terms	Other Names	Learn More: HPO ID
80%-99% of people have these symptoms
Absent speech	Absent speech development Lack of language development Lack of speech No speech development No speech or language development Nonverbal [ more ]	0001344
Aplasia/Hypoplasia of the cerebellum	Absent/small cerebellum Absent/underdeveloped cerebellum [ more ]	0007360
Cachexia	Wasting syndrome	0004326
Cerebellar atrophy	Degeneration of cerebellum	0001272
Developmental regression	Loss of developmental milestones Mental deterioration in childhood [ more ]	0002376
Generalized-onset seizure		0002197
Intellectual disability, profound	IQ less than 20	0002187
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
Macrotia	Large ears	0000400
Narrow face	Decreased breadth of face Decreased width of face [ more ]	0000275
Neuronal loss in central nervous system	Loss of brain cells	0002529
Severe global developmental delay		0011344
Strabismus	Cross-eyed Squint Squint eyes [ more ]	0000486
Thick eyebrow	Bushy eyebrows Dense eyebrow Heavy eyebrows Prominent eyebrows Thick eyebrows [ more ]	0000574
Truncal ataxia	Instability or lack of coordination of central trunk muscles	0002078
30%-79% of people have these symptoms
Adducted thumb	Inward turned thumb	0001181
Aplasia/Hypoplasia of the corpus callosum		0007370
Autism		0000717
Cerebral cortical atrophy	Decrease in size of the outer layer of the brain due to loss of brain cells	0002120
Conspicuously happy disposition		0100024
Dysphagia	Poor swallowing Swallowing difficulties Swallowing difficulty [ more ]	0002015
Dystonia		0001332
Feeding difficulties in infancy		0008872
Gait ataxia	Inability to coordinate movements when walking	0002066
Gastroesophageal reflux	Acid reflux Acid reflux disease Heartburn [ more ]	0002020
Inappropriate laughter		0000748
Microcephaly	Abnormally small skull Decreased circumference of cranium Decreased size of skull Reduced head circumference Small head circumference [ more ]	0000252
Mutism	Inability to speak Muteness [ more ]	0002300
Nystagmus	Involuntary, rapid, rhythmic eye movements	0000639
Ophthalmoplegia	Eye muscle paralysis	0000602
Pectus excavatum	Funnel chest	0000767
Stereotypy	Repetitive movements Repetitive or self-injurious behavior [ more ]	0000733
Ventriculomegaly		0002119
5%-29% of people have these symptoms
Abnormality of the nose	Nasal abnormality	0000366
Arthrogryposis multiplex congenita		0002804
Death in early adulthood		0100613
Decreased muscle mass	Underdeveloped muscles	0003199
Deeply set eye	Deep set eye Deep-set eyes Sunken eye [ more ]	0000490
Joint hyperflexibility	Joints move beyond expected range of motion	0005692
Mandibular prognathia	Big lower jaw Increased projection of lower jaw Increased size of lower jaw Large lower jaw Prominent chin Prominent lower jaw [ more ]	0000303
Percent of people who have these symptoms is not available through HPO
Abnormality of the foot	Abnormal feet morphology Abnormality of the feet Foot deformities Foot deformity [ more ]	0001760
Bowel incontinence	Loss of bowel control	0002607
Decreased body weight	Decreased weight Low body weight Low weight Weight less than 3rd percentile [ more ]	0004325
Drooling	Dribbling	0002307
Flexion contracture	Flexed joint that cannot be straightened	0001371
Generalized hypotonia	Decreased muscle tone Low muscle tone [ more ]	0001290
Global developmental delay		0001263
Happy demeanor		0040082
Hyperkinetic movements	Muscle spasms	0002487
Intellectual disability, progressive	Mental retardation, progressive Progressive mental retardation [ more ]	0006887
Intellectual disability, severe	Early and severe mental retardation Mental retardation, severe Severe mental retardation [ more ]	0010864
Long nose	Elongated nose Increased height of nose Increased length of nose Increased nasal height Increased nasal length Nasal elongation [ more ]	0003189
Loss of ability to walk in first decade		0006794
Narrow chest	Low chest circumference Narrow shoulders [ more ]	0000774
Open mouth	Gaped jawed appearance Gaped mouthed appearance Slack jawed appearance [ more ]	0000194
Photosensitive tonic-clonic seizures		0007207
Skeletal muscle atrophy	Muscle degeneration Muscle wasting [ more ]	0003202
Sleep disturbance	Difficulty sleeping Trouble sleeping [ more ]	0002360
Slender finger	Narrow fingers Slender fingers thin fingers [ more ]	0001238
Urinary incontinence	Loss of bladder control	0000020
X-linked dominant inheritance		0001423

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Do you have more information about symptoms of this disease? We want to hear from you.

Last updated: 2/1/2020

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Find a Specialist Find a Specialist

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

To find a medical professional who specializes in genetics, you can ask your doctor for a referral or you can search for one yourself. Online directories are provided by the American College of Medical Genetics and the National Society of Genetic Counselors. If you need additional help, contact a GARD Information Specialist. You can also learn more about genetic consultations from Genetics Home Reference.

Related Diseases 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 Angelman syndrome, spinocerebellar ataxia type 29 (see these terms) and other X-linked forms of intellectual deficiencies. Visit the Orphanet disease page for more information.

Organizations 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

Christianson Syndrome Association
15201 Mason Road Ste 1000 #173
Cypress, TX 77433
Telephone: +1-281-723-5989
E-mail: christiansonsyndromeassn@yahoo.com
Website: http://www.csa-cares.org

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Learn More 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 Christianson syndrome. This website is maintained by the National Library of Medicine.

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 Christianson syndrome. Click on the link to view a sample search on this topic.

GARD Answers GARD Answers

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

How many people have been diagnosed with Christianson syndrome? See answer

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References References

Mental Retardation, X-Linked, Syndromic, Christianson Type. Online Mendelian Inheritance in Man (OMIM). February 24, 2015; http://omim.org/entry/300243. Accessed 12/21/2015.
Gilfillan GD, Selmer KK, Roxrud I, Smith R, Kyllerman M, Eiklid K, Kroken M, Mattingsdal M, Egeland T, Stenmark H, Sjøholm H, Server A, Samuelsson L, Christianson A, Tarpey P, Whibley A, Stratton MR, Futreal PA, Teague J, Edkins S, Gecz J, Turner G, Raymond FL, Schwartz C, Stevenson RE, Undlien DE, Strømme P. Am J Hum Genet. 2008; http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2427207/?tool=pubmed. Accessed 1/6/2010.
Intellectual deficit, X-linked, South African type. Orphanet. 2007; http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=85278. Accessed 1/6/2010.

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