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Congenital Thymic Aplasia

Last updated Nov. 6, 2020

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.

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Reviewed and Approved by a member of the DoveMed Editorial Board
First uploaded: July 24, 2017
Last updated: Nov. 6, 2020