Syndromes: 22q11.2 deletion syndrome

A series about conditions with common symptoms that constitute a syndrome

A series about conditions with common symptoms that constitute a syndrome

Cleft lip can be a symptom of 22q11.2 deletion syndrome Picture: SPL

The deletion syndrome 22q11.2 is classified as a rare disorder (McGarvey and Hart 2008). According to Shprintzen (2008), the phenotype has variable manifestations with no case of the syndrome reporting all the same clinical findings. Consequently, people presenting with 22q11.2 deletion syndrome can have a widely varied clinical course even among members of the same family, and symptoms involve many parts of the body (Wong 2011).

Diagnosis of 22q11.2 deletion syndrome is shown by the fluorescence in-situ hybridisation (FISH) test when instead of both copies of chromosome 22 lighting up with a fluorescent DNA tag, only one copy reacts.

The main features of 22q11.2DS are:

  • Development of third and fourth pharyngeal pouches, also known as DiGeorge sequence, present in infants.
  • Absent thymus and parathyroid glands, causing immunodeficiency.
  • About 75% of people with the syndrome will experience congenital heart defects such as ventricular or atrial septal defects and tetralogy of Fallot (Wong 2011).
  • Velocardiofacial syndrome such as cleft palate with or without cleft lip, hypernasal speech, congenital heart disease, short stature and developmental delay (Wong 2011).
  • Feeding difficulties caused by cleft palate.
  • About 35% of people with the syndrome will experience kidney problems ranging from absence of a kidney to a smaller poorly functioning kidney.
  • Appearance will be altered. Distinguishable facial features can include a long face, hooded eyelids and a tubular nose.
  • Some children present with isolated congenital heart disease or cleft palate, while others may have borderline normal intelligence, developmental delays or learning disabilities (De Smedt et al 2007).
  • An increased risk of developing mental illnesses such as schizophrenia, depression, anxiety and bipolar disorder (Fabbro et al 2012).
  • Learning difficulties affect about 65% of people with the syndrome and can include poor concentration, inability to reach milestones and slow development of speech.

Several tests are suggested in the neonatal period that assess each body system, and investigations are considerable during this period.

Lifelong support is required and consideration of the non-medical challenges may need other interventions aimed at optimising abilities, such as additional support at school.  

Case study

Emma was healthy when she was born, with the exception of a cleft palate. This required multiple surgeries in the first two years of life and feeding was difficult. She also experienced ear and throat infections requiring frequent antibiotic therapy.

Emma failed to meet milestones like other children of a similar age and she learnt to walk and speak at a later age. When she started school, it became apparent she could not keep up and after assessment, she was deemed to have a mild intellectual disability.

She was diagnosed with 22q11.2 at the age of eight after genetic testing. Emma attends mainstream school and while she requires additional support, she enjoys school life.

She has delayed speech and experiences anxiety at times. She has input from a speech and language therapist and child psychologist. However, her parents are concerned for her future and the transition through school into adulthood.


  • De Smedt B, Devriendt K, Fryns JP et al (2007) Intellectual abilities in a large sample of children with velo-cardio-facial syndrome: an update. Journal of Intellectual Disability Research. 51, 666-670.
  • Fabbro A, Rizzi E, Schneider M et al (2012) Depression and anxiety disorders in children and adolescents with velo-cardio-facial syndrome (VCFS). European Child and Adolescent Psychiatry. 21, 379-385.
  • McGarvey B, Hart C (2008) An Investigation into the Social Support Needs of Families who Experience Rare Disorders on the Island of Ireland. Rehab Care, Dublin
  • Shprintzen R J (2008) Velo-cardio-facial syndrome: 30 years of study. Developmental Disabilities Research Reviews. 14, 3–10.
  • Wong D (2011) Genetic disorders. In: Yazdani S, McGhee S, Stiehm E (Eds) Chronic Complex Diseases of Childhood: A Practical Guide for Clinicians. Brown Walker Press, Boca Raton FL, 199-201.

About the authors

Carmel Doyle is assistant professor, School of Nursing and Midwifery, Trinity College Dublin, Ireland, and Sandra Fleming is assistant professor, School of Nursing and Midwifery, Trinity College Dublin, Ireland

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