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

The Human Phenotype Ontology (HPO) provides the following list of features that have been reported in people with this condition. Much of the information in the HPO comes from Orphanet, a European rare disease database. If available, the list includes a rough estimate of how common a feature is (its frequency). Frequencies are based on a specific study and may not be representative of all studies. You can use the MedlinePlus Medical Dictionary for definitions of the terms below.

Signs and Symptoms	Approximate number of patients (when available)
Absent speech	Very frequent (present in 80%-99% of cases)
Aplasia/Hypoplasia of the cerebellum	Very frequent (present in 80%-99% of cases)
Cachexia	Very frequent (present in 80%-99% of cases)
Cerebellar atrophy	Very frequent (present in 80%-99% of cases)
Developmental regression	Very frequent (present in 80%-99% of cases)
Generalized seizures	Very frequent (present in 80%-99% of cases)
Intellectual disability, profound	Very frequent (present in 80%-99% of cases)
Long face	Very frequent (present in 80%-99% of cases)
Macrotia	Very frequent (present in 80%-99% of cases)
Narrow face	Very frequent (present in 80%-99% of cases)
Neuronal loss in central nervous system	Very frequent (present in 80%-99% of cases)
Severe global developmental delay	Very frequent (present in 80%-99% of cases)
Strabismus	Very frequent (present in 80%-99% of cases)
Thick eyebrow	Very frequent (present in 80%-99% of cases)
Truncal ataxia	Very frequent (present in 80%-99% of cases)
Adducted thumb	Frequent (present in 30%-79% of cases)
Aplasia/Hypoplasia of the corpus callosum	Frequent (present in 30%-79% of cases)
Autism	Frequent (present in 30%-79% of cases)
Cerebral cortical atrophy	Frequent (present in 30%-79% of cases)
Conspicuously happy disposition	Frequent (present in 30%-79% of cases)
Dysphagia	Frequent (present in 30%-79% of cases)
Dystonia	Frequent (present in 30%-79% of cases)
Feeding difficulties in infancy	Frequent (present in 30%-79% of cases)
Gait ataxia	Frequent (present in 30%-79% of cases)
Gastroesophageal reflux	Frequent (present in 30%-79% of cases)
Inappropriate laughter	Frequent (present in 30%-79% of cases)
Microcephaly	Frequent (present in 30%-79% of cases)
Mutism	Frequent (present in 30%-79% of cases)
Nystagmus	Frequent (present in 30%-79% of cases)
Ophthalmoplegia	Frequent (present in 30%-79% of cases)
Pectus excavatum	Frequent (present in 30%-79% of cases)
Ventriculomegaly	Frequent (present in 30%-79% of cases)
Abnormality of the nose	Occasional (present in 5%-29% of cases)
Death in early adulthood	Occasional (present in 5%-29% of cases)
Decreased muscle mass	Occasional (present in 5%-29% of cases)
Deeply set eye	Occasional (present in 5%-29% of cases)
Joint hyperflexibility	Occasional (present in 5%-29% of cases)
Abnormality of the foot	-
Bowel incontinence	-
Decreased body weight	-
Drooling	-
Flexion contracture	-
Happy demeanor	-
Hyperkinesis	-
Intellectual disability, progressive	-
Intellectual disability, severe	-
Long nose	-
Loss of ability to walk in first decade	-
Muscular hypotonia	-
Narrow chest	-
Open mouth	-
Photosensitive tonic-clonic seizures	-
Skeletal muscle atrophy	-
Sleep disturbance	-
Slender finger	-
Urinary incontinence	-
X-linked dominant inheritance	-

Last updated: 10/1/2017

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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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Living With Living With

Living with a genetic or rare disease can impact the daily lives of patients and families. These resources can help families navigate various aspects of living with a rare disease.

Genetics 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 GeneTests, 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.

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.

News & Events News & Events

News

Don’t Miss the NCATS Toolkit for Patient-Focused Therapy Development Event
August 31, 2017
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August 10, 2017

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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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