Living with 20p12.3 microdeletion syndrome
A chromosome condition that can affect the heart, development, and facial features, sometimes with cleft lip or palate.
Understanding 20p12.3 microdeletion syndrome
People can have heart conditions such as Wolff-Parkinson-White syndrome (an extra electrical pathway causing episodes of fast heart rate), a hole between the upper heart chambers (ASD), or patent ductus arteriosus (PDA). Developmental delays are possible, and some people have cleft lip or palate and similar facial features. Larger deletions may cause other conditions. GARD lists onset as the newborn and infant period.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Global developmental delay
- Wolff-Parkinson-White syndrome (extra heart pathway)
- Short stature
- Larger head size (macrocephaly)
- Wide-set eyes (hypertelorism)
- Small upper jaw (maxilla)
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.
- 3Consider genetic testing
Changes in BMP2 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
Care & treatment
- Care team
- Genetic specialists (geneticists)
- Expert care
- Ask about multidisciplinary care centers for rare conditions
- 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 Chromosome Disorder Outreach
- 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
Changes in the BMP2 gene are listed, and the condition is listed as autosomal dominant. The deletion can be inherited from a parent or happen for the first time in a person.
Also known as: del(20)(p12.3); monosomy 20p12.3
Patient organizations
- Chromosome Disorder OutreachChromosome disorders · United States
Broader rare-disease groups
- Global GenesRare Diseases · United States
- National Organization for Rare DisordersRare Diseases · United States
- Genetic AllianceRare Diseases · United States
- RARE FoundationRare Diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with 20p12.3 microdeletion syndrome.
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