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

Severe intellectual disability-progressive spastic diplegia syndrome


Other Names:
Intellectual disability, autosomal dominant 19; CTNNB1-related intellectual disability; CTNNB1 syndrome
Categories:
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

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
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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Last updated: 7/1/2020

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

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.

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.

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.

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.

  1. 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.
  2. Mental retardation, autosomal dominant 19. OMIM. July 24, 2014; http://omim.org/entry/615075. Accessed 10/12/2015.
  3. 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.
  4. 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.