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Features or Symptoms 

22q Deletion

22q11.2 Deletion Syndrome has more than 180 possible symptoms and issues can occur in many different body systems for example, heart, palate, and learning style. It makes sense that patients should have a comprehensive evaluation of all areas which could be affected. The Practical Guidelines for Managing Patients with 22q11.2DS includes a list of multisystem features and recommended assessments across the lifespan. The guidelines can be found here. 

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Upon initial diagnosis the standard assessments for all ages include:

  • Cardiology

  • Endocrinology

  • Immunology

  • Speech/Language/Developmental Assessments

  • A Renal Ultrasound (to check the kidneys)

  • X-rays of the neck (in children old enough to cooperate and where the bones are well ossified – so ~ 3 to 4 years of age)

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22q Duplication

22q duplication symptoms vary amongst individuals. Symptoms can range from none to mild, moderate or occasionally severe. There is a wide variability in the types and severity of associated symptoms, including birth defects, medical problems, and developmental differences. 22q11.2 duplication can also result in very mild symptoms or none at all. 
 

Some of the reported symptoms of 22q duplication are:

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Facial Features

  • Flat and broad nose

  • Small-sized lower jaw and chin

  • Widely spaced eyes

  • Downslanting eyes Eye folds (epicanthal folds)

  • Low-set ears with abnormal ear formation

  • Cleft Palate

  • Small or large-sized head and narrow face

Behavioural/Developmental Features

  • Global developmental delay

  • Speech & Language Impairments

  • Cognitive/Intellectual impairments

  • Anxiety and obsessive-compulsive behaviour Depression

  • Delayed toilet training

  • Around 14 to 25% of individuals will have autism spectrum disorder

Physical Features

  • Weak muscle tone (hypotonia)

  • Feeding difficulties

  • Hearing impairment/loss

  • Vision Impairments

  • Underdeveloped heart; heart valve defects

  • Growth delays/short stature

  • Kidney abnormalities

  • Differences in the thyroid and calcium levels

  • Seizures/epilepsy

  • Immunocompromised (absent or underdeveloped thymus)

  • Delayed fine/gross motor skills
     

Symptoms are not limited to the above list as there is still a lot unknown about 22q duplication and research is still occurring. Medical evaluations may detect additional problems, but many therapies and interventions are available to manage them​

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