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Congenital Thymic Aplasia

Last updated July 24, 2017

Approved by: Maulik P. Purohit MD, MPH

22q11.2 Deletion Syndrome is a genetic condition that is caused by deletion of genetic material from the long arm of chromosome 22. About 30-40 genes coexisting in this region are lost in the deletion. Very few genes have been characterized from this region. Among them are TBX1 and COMT, which are believed to contribute to the characteristic facial features and behavioral traits of this disorder.


The topic Congenital Thymic Aplasia you are seeking is a synonym, or alternative name, or is closely related to the medical condition 22q11.2 Deletion Syndrome.

Quick Summary:

  • 22q11.2 Deletion Syndrome is a genetic condition that is caused by deletion of genetic material from the long arm of chromosome 22. About 30-40 genes coexisting in this region are lost in the deletion. Very few genes have been characterized from this region. Among them are TBX1 and COMT, which are believed to contribute to the characteristic facial features and behavioral traits of this disorder
  • 22q11.2 Deletion Syndrome is inherited as an autosomal dominant trait in a minority of the affected individuals, who inherit the condition from one of the parents. In these individuals, a single defective copy of chromosome 22 in their body cells is sufficient to cause the condition
  • The deletion of part of chromosome 22 can affect almost any part of the body. The symptoms may be mild or severe, and often varies even among affected members of the same family
  • Since 22q11.2 Deletion Syndrome is a genetic disorder, having a family history of the disorder is a known risk factor for developing it. Nonetheless, only 10% of the reported cases are inherited. The other 90% occur due to spontaneous mutations in the egg and sperm, or during early fetal development. The risk factors for the spontaneous development are currently unknown
  • Some major symptoms of the disorder include characteristic facial features, such as upslanted eyes, broad nasal bridge, cleft palate, congenital cardiac defects, recurrent infections, missing thymus gland, delay in achieving developmental milestones, learning disabilities, autism spectrum disorders, and mental disorders such as schizophrenia
  • The diagnosis for 22q11.2 Deletion Syndrome can be made in the prenatal stages with fetal ultrasound or genetic testing of fetal cells. A diagnosis of the condition after birth is typically done through physical examination, evaluation of family medical history, and genetic testing
  • Presently, there are no cures available for 22q11.2 Deletion Syndrome. Treatment is usually tailored to address individual symptoms. While cleft palate, skeletal defects, and cardiac defects may be corrected through surgery, continued monitoring may be required for infections and other symptoms
  • The prognosis associated with 22q11.2 Deletion Syndrome has improved in the recent past. However, it is also dependent upon the severity of the signs and symptoms, with milder cases having a better prognosis

Please find comprehensive information on 22q11.2 Deletion Syndrome regarding definition, distribution, risk factors, causes, signs & symptoms, diagnosis, complications, treatment, prevention, prognosis, and additional useful information HERE.

What are some Useful Resources for Additional Information on Congenital Thymic Aplasia?

Genetic and Rare Diseases (GARD) Information Center
PO Box 8126 Gaithersburg, MD 20898-8126
Toll-Free: (888) 205-2311
TTY: (888) 205-3223
International Telephone Access Number: (301) 251-4925
Fax: (301) 251-4911
Website: http://rarediseases.info.nih.gov

National Organization for Rare Disorders (NORD)
55 Kenosia Avenue Danbury, CT 06810
Phone: (203) 744-0100
Toll-Free: (800) 999-6673
Fax: (203) 798-2291
Email: orphan@rarediseases.org
Website: http://www.rarediseases.org

The Children's Hospital of Philadelphia
3401 Civic Center Blvd Philadelphia, PA 19104
Phone: (267) 426-6500
Toll-Free: (800) 879-2467
Fax: (267) 426-6530
Email: genetics@email.chop.edu
Website: http://www.chop.edu

International 22q11.2 Foundation, Inc.
P.O. Box 2269, Matawan, NJ 07747
Phone: (877) 739-1849
Email: info@22q.org
Website: http://www.22q.org

VCFS 22q11 Foundation
2507 Lagoon Road Charlton, 2795 NSW
Email: president@vcfs22q.org.au
Website: http://www.vcfsfa.org.au

References and Information Sources used for Congenital Thymic Aplasia:

https://ghr.nlm.nih.gov/condition/22q112-deletion-syndrome (accessed on 7/24/2017)

http://www.seattlechildrens.org/medical-conditions/chromosomal-genetic-conditions/22q112-deletion/ (accessed on 7/24/2017)

http://rarediseases.org/rare-diseases/chromosome-22q11-2-deletion-syndrome/ (accessed on 7/24/2017)

https://www.medicalhomeportal.org/diagnoses-and-conditions/22q11.2-deletion-syndrome (accessed on 7/24/2017)

Helpful Peer-Reviewed Medical Articles for Congenital Thymic Aplasia:

McDonald‐McGinn, D. M., Driscoll, D. A., Bason, L., Christensen, K., Lynch, D., Sullivan, K., ... & Paris, Y. (1995). Autosomal dominant “Opitz” GBBB syndrome due to a 22q11. 2 deletion. American Journal of Medical Genetics Part A, 59(1), 103-113.

Robin, N. H., Opitz, J. M., & Muenke, M. (1996). Opitz G/BBB syndrome: Clinical comparisons of families linked to Xp22 and 22Q and a review of the literature. American Journal of Medical Genetics Part A, 62(3), 305-317.

Robin, N. H., Feldman, G. J., Aronson, A. L., Mitchell, H. F., Weksberg, R., Leonard, C. O., ... & Allanson, J. E. (1995). Opitz syndrome is genetically heterogeneous, with one locus on Xp22, and a second locus on 22q11. 2. Nature genetics, 11(4), 459-461.

Gaudenz, K., Roessler, E., Quaderi, N., Franco, B., Feldman, G., Gasser, D. L., ... & Muenke, M. (1998). Opitz G/BBB syndrome in Xp22: mutations in the MID1 gene cluster in the carboxy-terminal domain. The American Journal of Human Genetics, 63(3), 703-710.

Guion‐Almeida, M. L., & Richieri‐Costa, A. (1992). CNS midline anomalies in the Opitz G/BBB syndrome: report on 12 Brazilian patients. American Journal of Medical Genetics Part A, 43(6), 918-928.

Reviewed and Approved by a member of the DoveMed Editorial Board
First uploaded: July 24, 2017
Last updated: July 24, 2017