Living with Chromosome 17q23.1-q23.2 deletion syndrome
A small missing piece of chromosome 17 that can cause delays, a small head, short stature, and heart and limb differences.
Understanding Chromosome 17q23.1-q23.2 deletion syndrome
People may have developmental delay, a small head size, short stature, heart defects, and limb differences. Most deletions are about 2.2 Mb and include the TBX2 and TBX4 genes, which play roles in how the heart and limbs develop. GARD lists onset in the newborn period and infancy.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Delayed development
- Delayed speech and language
- Small head size (microcephaly)
- High blood pressure in the lungs (pulmonary hypertension)
- Long fingers and toes
- Frontal bossing
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include genetic specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
- 4Connect with expert centers
TBX4Life may keep lists of experts for this condition.
Care & treatment
- Care team
- Genetic specialists (geneticists)
- Expert care
- Expert lists: TBX4Life
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with TBX4Life and other patient organizations
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
GARD says it is caused by a small missing piece (deletion) of chromosome 17 at q23.1-q23.2. Most deletions include the TBX2 and TBX4 genes.
Also known as: 17q23.1-q23.2 microdeletion syndrome; 17q23.1q23.2 microdeletion syndrome; chromosome 17q23.1-q23.2 deletion syndrome, isolated cases; del(17)(q23.1q23.2); monosomy 17q23.1-q23.2; monosomy 17q23.1q23.2
Patient organizations
- TBX4LifeChromosome 17q23.1-q23.2 deletion syndrome · United States
- Chromosome Disorder OutreachChromosome disorders · United States
You are more than your diagnosis
Perspectives from people navigating life with Chromosome 17q23.1-q23.2 deletion syndrome.
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