Living with 3p- syndrome
A rare chromosome condition, from a missing piece at the end of chromosome 3, that can bring slow growth and developmental delay.
Understanding 3p- syndrome
Severity depends on the size and location of the deletion. Some people have no or mild features, while others are more affected. Common features include poor growth, developmental delay, intellectual disability, distinct facial features, autism spectrum disorder, a small head, and low muscle tone. Most cases are not inherited, but people can pass the deletion to their children. GARD lists onset as during pregnancy and as a newborn.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Small head size (microcephaly)
- Low muscle tone (hypotonia)
- Short stature
- Cleft palate
- Hearing impairment
- Intellectual or cognitive impairment
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 brain and nervous system specialists, eye disease specialists and genetic specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); Eye disease specialists (ophthalmologists); 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
GARD says changes in genes (also called variants) cause this condition. It is a missing piece of chromosome 3, it is listed as autosomal dominant, and most cases are not inherited.
Also known as: 3p deletion syndrome; 3p syndrome; chromosome 3, deletion 3p; chromosome 3, monosomy 3p; chromosome 3, monosomy 3p25; chromosome 3pter-p25 deletion syndrome
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 3p- syndrome.
Explore research for 3p- syndrome
Explore actively recruiting 3p- syndrome studies with HealthSpark.
Find actively recruiting studies for 3p- syndrome with HealthSpark. Share your city to explore research near you.
- Recruiting studies from ClinicalTrials.gov
- Share your city to look for research near you
- Eligibility is confirmed by the study team
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Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
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