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Editorial preview · Medical review and interviews pending

The Health Advocate · In focus

22q11.2.
Explore the body.

Seven areas. One guided journey. Move through the numbers to discover where 22q11.2 deletion syndrome can have an effect.

Explore 22q11.2 · Seven body systems

Start at 01. Move through the numbers to see the possible effects, symptoms and care.

AI-generated conceptual illustration · Numbered locations are approximate, not a diagnostic scan.

Or jump to any number on the body or below.

Brain · Possible effects

Learning & mental health

Learning and developmental differences can occur. ADHD and autism are more common in people with 22q11.2 deletion syndrome.

What might be noticed?

Speech or learning delays may lead to assessment. Needs vary between people.

Care may involve

Learning support and mental health care can be tailored to the person.

Read more: MedlinePlus Genetics ↗ · Care and treatment ↗

Mouth & ears · Possible effects

Palate, speech & hearing

Differences in the roof of the mouth can affect speech. Feeding difficulties and hearing loss may also occur.

What might be noticed?

Speech may sound nasal; feeding or hearing concerns may need assessment.

Care may involve

Care may involve speech therapy, hearing assessment and a specialist palate team.

Read more: MedlinePlus Genetics ↗ · Care and treatment ↗

Neck glands · Possible effects

Calcium regulation

The parathyroid glands help regulate calcium. If they do not make enough hormone, blood calcium can become low.

What might be noticed?

Low calcium can cause complications, including seizures.

Care may involve

A clinician may monitor calcium and prescribe calcium or vitamin D when needed.

Read more: Mayo Clinic · Symptoms and causes ↗ · Care and treatment ↗

Thymus · Possible effects

Immune system

A small or absent thymus can affect the development of immune cells and increase vulnerability to infections.

What might be noticed?

Infections may be recurrent. The degree of immune difficulty varies.

Care may involve

An immunology team can assess immune function and advise on individual care.

Read more: Mayo Clinic · Symptoms and causes ↗ · Care and treatment ↗

Heart · Possible effects

Heart & blood vessels

Some people are born with structural differences in the heart or its major blood vessels.

What might be noticed?

A heart murmur or circulation problems may be among the signs.

Care may involve

A cardiology team assesses the individual; some heart conditions require surgery.

Read more: Mayo Clinic · Symptoms and causes ↗ · Care and treatment ↗

Kidneys · Possible effects

Kidneys

Kidney differences are among the possible features of 22q11.2 deletion syndrome.

What might be noticed?

An internal difference may be identified during medical assessment rather than through an obvious symptom.

Care may involve

Follow-up depends on the finding and the person’s health.

Read more: MedlinePlus Genetics ↗ · Care and treatment ↗

Digestive system · Possible effects

Feeding & digestion

Feeding difficulties and gastrointestinal problems can occur. Some children also have difficulty growing.

What might be noticed?

Feeding or growth concerns can prompt assessment.

Care may involve

The care team can assess nutrition, swallowing and digestive concerns.

Read more: MedlinePlus Genetics ↗ · Care and treatment ↗

Every person is different. This map shows possible effects, not a prediction. It is selective, not exhaustive. Immune function and calcium regulation have effects throughout the body; their markers indicate glands involved, not the only places affected.

01 / Start with the genetics

One condition.
Many possible effects.

22q11.2 deletion syndrome is a genetic condition in which a small segment of chromosome 22 is missing. It can affect several body systems.

The features vary widely, including between people in the same family. This map shows possible effects—not a list of what will happen to any one person.

Source: MedlinePlus Genetics ↗

03 / Symptoms & signs

Some signs are visible.
Others are less obvious.

Features can be recognised at birth or emerge later, including in adulthood. Similar symptoms can have other causes: a body map cannot diagnose the condition.

Source: Mayo Clinic ↗
Physical

Feeding, growth or infections

Feeding difficulties, delayed growth and recurrent infections are possible.

Developmental

Speech and learning

Speech and developmental delays can lead to further assessment.

Internal

Heart, calcium or kidney findings

Some features are identified through clinical assessment or tests.

Individual

No single pattern

The combination and severity of features differ from person to person.

04 / Making a diagnosis

Testing helps connect the picture.

A genetic laboratory test can identify the deletion. A clinician considers the person’s history and findings and arranges appropriate assessment.

Source: Mayo Clinic · Diagnosis and treatment ↗

05 / Care & treatment effects

The condition and its treatment
are different parts of the story.

Effects of the condition

What 22q11.2 can involve

The map explores possible features of the syndrome. These are not automatically side effects of a medicine.

Individual care

Support for the person

There is no cure for the deletion itself, but individual problems can be treated or managed. Care may involve several specialties, therapies and learning support.

International 22q11.2 Foundation ↗
Treatment side effects

Specific to the treatment

There is no single side-effect list for 22q11.2. A medicine or procedure needs its own explanation of possible benefits, risks and monitoring, checked with the treating team.

Medical content is a sourced editorial draft, not individual advice. Independent clinical review is pending. Discuss health concerns and treatment questions with a qualified clinician.

06 / Life beyond the map

Three perspectives.
One connected feature.

01

The family

Living with 22q11.2

A reported story about everyday life, relationships, strengths and the support that makes a difference.

Interview to be commissioned
02

The professor

Understanding the science

An interview exploring why experiences differ, current research and questions still unanswered.

Interview to be commissioned
03

The charity

Finding connection and support

An interview about practical resources, community and the gaps families face.

Interview to be commissioned

Sources & editorial status

Read the evidence behind the feature.

Sources checked 25 October 2026. No original interviews have been conducted for this preview. The diagram is a simplified editorial illustration and awaits clinical review before a finished feature is published.

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