Living with 14q24.1q24.3 microdeletion syndrome
A rare genetic condition that can bring mild learning challenges, delayed speech, heart differences, and short fingers.
Understanding 14q24.1q24.3 microdeletion syndrome
People with this condition have mild intellectual disability and delayed speech. Heart defects present from birth, short fingers and toes (brachydactyly), and distinct facial features are also part of it. GARD lists onset as newborn.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Mild intellectual disability
- Heart differences (abnormal heart shape)
- Short fingers or toes (brachydactyly)
- Short thumb
- Very flexible joints (joint hypermobility)
- Wide-set eyes (hypertelorism)
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 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); 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. The summary describes it as a missing piece (microdeletion) of chromosome 14.
Also known as: del(14)(q24.1q24.3); monosomy 14q24.1q24.3
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 14q24.1q24.3 microdeletion syndrome.
Explore research for 14q24.1q24.3 microdeletion syndrome
Explore actively recruiting 14q24.1q24.3 microdeletion syndrome studies with HealthSpark.
Find actively recruiting studies for 14q24.1q24.3 microdeletion 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
Powered by HealthSpark, our AI chat helper
I can help you find recruiting 14q24.1q24.3 microdeletion syndrome studies. Enter a ZIP code, address or city below and I'll look within 50 miles.
Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
Get Signals for 14q24.1q24.3 microdeletion syndrome
Stay in the loop with community stories and updates from medical researchers.
Create a living journal that talks back
HealthStory evolves private journaling with a living AI journal that talks back and asks thoughtful questions, helping you capture your 14q24.1q24.3 microdeletion syndrome experiences more deeply and prepare for better conversations with your doctors and care team.
Your journal is private. Sharing your story publicly is a separate choice, made with Share your story above.