DiGeorge syndrome

DiGeorge syndrome
Other namesDiGeorge anomaly,[1][2] velocardiofacial syndrome (VCFS),[3] Shprintzen syndrome,[4] conotruncal anomaly face syndrome (CTAF),[5] Takao syndrome,[6] Sedlackova syndrome,[7] Cayler cardiofacial syndrome,[7] CATCH22,[7] 22q11.2 deletion syndrome[7]
A child with characteristic facial features of DiGeorge syndrome
SpecialtyMedical genetics
SymptomsVaried; commonly congenital heart problems, specific facial features, cleft palate[7]
ComplicationsKidney problems, hearing loss, autoimmune disorders[7]
CausesGenetic (typically new mutation)[7]
Diagnostic methodBased on symptoms and genetic testing[5]
Differential diagnosisSmith–Lemli–Opitz syndrome, Alagille syndrome, VACTERL, Oculo-auriculo-vertebral spectrum[5]
TreatmentInvolves many healthcare specialties[5]
PrognosisDepends on the specific symptoms[3]
Frequency1 in 4,000[7]

DiGeorge syndrome, also known as 22q11.2 deletion syndrome, is a syndrome caused by a microdeletion on the long arm of chromosome 22.[7] While the symptoms can vary, they often include congenital heart problems, specific facial features, frequent infections, developmental disability, intellectual disability and cleft palate.[7] Associated conditions include kidney problems, schizophrenia, hearing loss and autoimmune disorders such as rheumatoid arthritis or Graves' disease.[7][8]

DiGeorge syndrome is typically due to the deletion of 30 to 40 genes in the middle of chromosome 22 at a location known as 22q11.2.[3] About 90% of cases occur due to a new mutation during early development, while 10% are inherited.[7] It is autosomal dominant, meaning that only one affected chromosome is needed for the condition to occur.[7] Diagnosis is suspected based on the symptoms and confirmed by genetic testing.[5]

Although there is no cure, treatment can improve symptoms.[3] This often includes a multidisciplinary approach with efforts to improve the function of the potentially many organ systems involved.[9] Long-term outcomes depend on the symptoms present and the severity of the heart and immune system problems.[3] With treatment, life expectancy may be normal.[10]

DiGeorge syndrome occurs in about 1 in 4,000 people.[7] The syndrome was first described in 1968 by American physician Angelo DiGeorge.[11][12] In late 1981, the underlying genetics were determined.[12]

  1. ^ Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L. (2007). Dermatology: 2-Volume Set. St. Louis: Mosby. ISBN 978-1-4160-2999-1.
  2. ^ James, William D.; Berger, Timothy G.; et al. (2006). Andrews' Diseases of the Skin: clinical Dermatology. Saunders Elsevier. ISBN 978-0-7216-2921-6.
  3. ^ a b c d e "22q11.2 deletion syndrome". Genetic and Rare Diseases Information Center (GARD). Archived from the original on 5 July 2017. Retrieved 15 May 2017.
  4. ^ Shprintzen RJ, Goldberg RB, Lewin ML, Sidoti EJ, Berkman MD, Argamaso RV, Young D (January 1978). "A new syndrome involving cleft palate, cardiac anomalies, typical facies, and learning disabilities: velo-cardio-facial syndrome". Cleft Palate J. 15 (1): 56–62. PMID 272242.
  5. ^ a b c d e "Chromosome 22q11.2 Deletion Syndrome - NORD (National Organization for Rare Disorders)". NORD (National Organization for Rare Disorders). 2017. Archived from the original on 28 January 2017. Retrieved 10 July 2017.
  6. ^ Burn J, Takao A, Wilson D, Cross I, Momma K, Wadey R, Scambler P, Goodship J (October 1993). "Conotruncal anomaly face syndrome is associated with a deletion within chromosome 22q11". J. Med. Genet. 30 (10): 822–4. doi:10.1136/jmg.30.10.822. PMC 1016562. PMID 8230157.
  7. ^ a b c d e f g h i j k l m n "22q11.2 deletion syndrome". Genetics Home Reference. July 2013. Archived from the original on 13 May 2017. Retrieved 15 May 2017.
  8. ^ Shah, Anvay; Sinnott, Bridget (2022-02-06). "Newly Diagnosed Hypoparathyroidism as the Initial Presentation of DiGeorge Syndrome in a 26-Year-Old Man". AACE Clinical Case Reports. 8 (4): 181–182. doi:10.1016/j.aace.2022.02.001. ISSN 2376-0605. PMC 9363511. PMID 35959083. S2CID 246664448.
  9. ^ Kobrynski LJ, Sullivan KE (October 2007). "Velocardiofacial syndrome, DiGeorge syndrome: the chromosome 22q11.2 deletion syndromes". Lancet. 370 (9596): 1443–52. doi:10.1016/S0140-6736(07)61601-8. PMID 17950858. S2CID 32595060.
  10. ^ Goldman, Lee; Schafer, Andrew I. (2015). Goldman-Cecil Medicine E-Book. Elsevier Health Sciences. p. 702. ISBN 9780323322850. Archived from the original on 2017-11-05.
  11. ^ DiGeorge, A (1968). "Congenital absence of the thymus and its immunologic consequences: concurrence with congenital hypoparathyroidism". March of Dimes-Birth Defects Foundation: 116–21.
  12. ^ a b Restivo A, Sarkozy A, Digilio MC, Dallapiccola B, Marino B (February 2006). "22q11 deletion syndrome: a review of some developmental biology aspects of the cardiovascular system". J Cardiovasc Med (Hagerstown). 7 (2): 77–85. doi:10.2459/01.JCM.0000203848.90267.3e. PMID 16645366. S2CID 25905258.