Living with 16q24.1 microdeletion syndrome
A rare newborn condition that mainly affects the lungs and breathing, sometimes with other body differences.
Understanding 16q24.1 microdeletion syndrome
It shows up within hours after birth as severe trouble breathing and high blood pressure in the lungs that does not respond to usual treatment. Lung tissue has typical changes, such as too few tiny blood vessels in the air sac walls. Some babies also have differences in the intestines, urinary tract, or heart. GARD lists onset as the newborn and infant period.
Signs & symptoms
GARD doesn't list specific symptoms for this condition yet. The summary describes these features:
- Severe breathing trouble soon after birth
- High blood pressure in the lungs
- Intestinal differences (malrotation, atresias)
- Urinary tract differences
- Heart differences present from birth
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 and lung and breathing specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
Care & treatment
- Care team
- Genetic specialists (geneticists); Lung and breathing specialists (pulmonologists)
- 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 a partial loss (monosomy) of chromosome 16.
Also known as: del(16)(q24.1); monosomy 16q24.1
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 16q24.1 microdeletion syndrome.
Explore research for 16q24.1 microdeletion syndrome
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