Head and neck manifestations of 22q11.2 deletion syndromes

Eur Arch Otorhinolaryngol. 2012 Feb;269(2):381-7. doi: 10.1007/s00405-011-1745-1. Epub 2011 Aug 23.


The allelic loss of 22q11.2 results in various developmental failures of pharyngeal pouch derivatives ("22q11.2 deletion syndromes", 22q.11DS), consequently affecting the anatomy and physiology of head and neck (H&N) organs. The objective of this paper was to describe those manifestations. Two 22q11.2DS patients with H&N manifestations were studied along with a comprehensive review of the English literature, from 1975 to 2010 regarding the associated H&N malformations among 22q11.2DS. A 24-year-old mentally disabled 22q11.2DS male presented with right hemithyroid enlargement, causing significant compressive signs. Sonography revealed a homogeneous 8 × 3 cm lesion, replacing almost the entire thyroid lobe. Fine needle aspiration revealed colloid material and abundant eosinophils. The hemithyroidectomy specimen confirmed follicular adenoma. A 19-year-old mentally disabled 22q11.2DS female underwent CT-angiography due to an upper GI bleeding. The study revealed a vascular malformation in the infratemporal fossa. Reviewing the reported data regarding 22q11.2DS-associated H&N malformations revealed abnormalities and malfunctions of the thyroid gland, parathyroid glands, thymus agenesis, cleft palate, carotid artery aberrations, malformations of the larynx and trachea and esophageal dysmotility. 22q11.DS patients may present with H&N anatomical abnormalities, along with hormonal dysfunctions, which require special awareness once treatment is offered, especially when concerning anesthetic and surgical aspects. In addition, hSNF5/INI1, a tumor suppressor gene, detected at location 22q11.2 was described to be "knocked out" in some patients. This may be associated with H&N tumors reported in these patients.

Publication types

  • Case Reports
  • Review

MeSH terms

  • 22q11 Deletion Syndrome / diagnosis
  • 22q11 Deletion Syndrome / genetics*
  • Adenoma / diagnosis
  • Adenoma / genetics
  • Adult
  • Arteriovenous Malformations / diagnosis
  • Arteriovenous Malformations / genetics
  • Carotid Arteries / abnormalities
  • Cervical Vertebrae / abnormalities
  • Child, Preschool
  • Chromosomal Proteins, Non-Histone / genetics
  • Chromosomes, Human, Pair 22 / genetics
  • DNA-Binding Proteins / genetics
  • DiGeorge Syndrome / diagnosis
  • DiGeorge Syndrome / genetics
  • Female
  • Gene Knockout Techniques
  • Genes, Suppressor
  • Humans
  • Image Interpretation, Computer-Assisted
  • Imaging, Three-Dimensional
  • Loss of Heterozygosity / genetics
  • Male
  • Otorhinolaryngologic Diseases / diagnosis
  • Otorhinolaryngologic Diseases / genetics*
  • Respiratory System Abnormalities / diagnosis
  • Respiratory System Abnormalities / genetics*
  • SMARCB1 Protein
  • Skull Base / abnormalities
  • Thyroid Neoplasms / diagnosis
  • Thyroid Neoplasms / genetics
  • Tomography, X-Ray Computed
  • Transcription Factors / genetics
  • Young Adult


  • Chromosomal Proteins, Non-Histone
  • DNA-Binding Proteins
  • SMARCB1 Protein
  • SMARCB1 protein, human
  • Transcription Factors