Severe intellectual disability-progressive spastic diplegia syndrome

Title

Other Names:

Intellectual disability, autosomal dominant 19; CTNNB1-related intellectual disability; CTNNB1 syndrome

Categories:

Congenital and Genetic Diseases; Nervous System Diseases

Summary Summary

Severe intellectual disability-progressive spastic diplegia syndrome is a rare condition that has been described in a few people with severe intellectual disability . Other signs and symptoms include progressive microcephaly (very small head); ataxia (lack of coordination); spasticity; and/or skin, hair and mild facial anomalies. It is caused by changes (mutations) in the CTNNB1 gene and it is inherited in an autosomal dominant fashion. Treatment is based on the signs and symptoms present in each person.^[1]^[2]^[3]^[4]

Last updated: 10/27/2015

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
Abnormal facial shape	Unusual facial appearance	0001999
Intellectual disability	Mental deficiency Mental retardation Mental retardation, nonspecific Mental-retardation [ more ]	0001249
Motor delay		0001270
Muscular hypotonia of the trunk	Low muscle tone in trunk	0008936
Poor speech		0002465
Spasticity	Involuntary muscle stiffness, contraction, or spasm	0001257
30%-79% of people have these symptoms
Congenital microcephaly		0011451
Developmental regression	Loss of developmental milestones Mental deterioration in childhood [ more ]	0002376
5%-29% of people have these symptoms
Abnormal temper tantrums		0025160
Aggressive behavior	Aggression Aggressive behaviour Aggressiveness [ more ]	0000718
Autistic behavior		0000729
Broad nasal tip	Broad tip of nose Broad, upturned nose Increased breadth of nasal tip Increased breadth of tip of nose Increased width of nasal tip Increased width of tip of nose Nasal tip, broad Nasal tip, wide Wide tip of nose [ more ]	0000455
Delayed CNS myelination		0002188
Hypermetropia	Farsightedness Long-sightedness [ more ]	0000540
Hypoplasia of the corpus callosum	Underdevelopment of part of brain called corpus callosum	0002079
Long philtrum		0000343
Low hanging columella		0009765
Myopia	Close sighted Near sighted Near sightedness Nearsightedness [ more ]	0000545
Self-injurious behavior	Self-injurious behaviour	0100716
Sleep disturbance	Difficulty sleeping Trouble sleeping [ more ]	0002360
Smooth philtrum		0000319
Strabismus	Cross-eyed Squint Squint eyes [ more ]	0000486
Syringomyelia	Fluid-filled cyst in spinal cord	0003396
Tethered cord		0002144
Thin upper lip vermilion	Thin upper lip	0000219
Underdeveloped nasal alae	Underdeveloped tissue around nostril	0000430
Ventriculomegaly		0002119
1%-4% of people have these symptoms
Exudative vitreoretinopathy		0030490
Generalized hypopigmentation	Fair skin Pale pigmentation [ more ]	0007513
Hearing impairment	Deafness Hearing defect [ more ]	0000365
Optic atrophy		0000648
Seizures	Seizure	0001250
Percent of people who have these symptoms is not available through HPO
Autosomal dominant inheritance		0000006
Generalized hypotonia	Decreased muscle tone Low muscle tone [ more ]	0001290
Global developmental delay		0001263
High palate	Elevated palate Increased palatal height [ more ]	0000218
Infantile onset	Onset in first year of life Onset in infancy [ more ]	0003593
Microcephaly	Abnormally small skull Decreased circumference of cranium Decreased size of skull Reduced head circumference Small head circumference [ more ]	0000252
Neurological speech impairment	Speech disorder Speech impairment Speech impediment [ more ]	0002167
Spastic diplegia		0001264

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

Last updated: 12/1/2019

Do you have updated information on this disease? We want to hear from you.

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.

Research Research

Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.

Clinical Research Resources

The Investigation of Genetic Exome Research (TIGER) study is enrolling research participants ages 4 to adult to participate in a study exploring how specific genetic events may contribute to Autism Spectrum Disorders and related developmental disorders. Click on the link for a list of gene mutations currently being studied. If you are interested in learning more, please contact the study coordinator at 206-616-2889 or rablab@uw.edu.

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.

Social Networking Websites

CTNNB1 syndrome is a closed Facebook group for Severe intellectual disability-progressive spastic diplegia syndrome.

Do you know of an organization? We want to hear from you.

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

Unique is a source of information and support for families and individuals affected by rare chromosome disorders. Click on the link to view information about Severe intellectual disability-progressive spastic diplegia syndrome.

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.

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.

Have a question? Contact a GARD Information Specialist.

References References

Dubruc E, Putoux A, Labalme A, Rougeot C, Sanlaville D & Edery P. A new intellectual disability syndrome caused by CTNNB1 haploinsufficiency. Am. J. Med. Genet. 2014; 164:1571-1575. http://www.medscape.com/medline/abstract/24668549. Accessed 10/12/2015.
Mental retardation, autosomal dominant 19. OMIM. July 24, 2014; http://omim.org/entry/615075. Accessed 10/12/2015.
Tucci V & cols. Dominant beta-catenin mutations cause intellectual disability with recognizable syndromic features. J. Clin. Invest. 2014; 124:1468-1482. http://www.ncbi.nlm.nih.gov/pubmed/24614104. Accessed 10/12/2015.
Kuechler A & cols. De novo mutations in beta-catenin (CTNNB1) appear to be a frequent cause of intellectual disability: expanding the mutational and clinical spectrum. Hum Genet. January, 2015; 134(1):97-109. http://www.ncbi.nlm.nih.gov/pubmed/25326669. Accessed 10/12/2015.