Living with Non-distal monosomy 12q
A rare chromosome condition with developmental delay, intellectual disability, and physical differences that vary with the size of the missing piece.
Understanding Non-distal monosomy 12q
People can have a mix of developmental delay, intellectual disability, and differences in the skin, hair, nails and teeth (ectodermal), urinary and genital systems, and the heart. Facial features can include a prominent forehead and low-set ears. The exact combination depends on the size and location of the missing region. GARD lists onset as newborn.
Signs & symptoms
GARD doesn't list specific symptoms for this condition yet. Based on its summary, features may include:
- Developmental delay
- Intellectual disability
- Prominent forehead
- Low-set ears
- Minor heart differences
- Urinary and genital differences
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.
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
It is caused by a partial deletion, or missing piece, of chromosome 12. The features depend on the size and breakpoints of the deleted region.
Also known as: non-distal deletion 12q; non-distal monosomy type 12q; non-telomeric monosomy 12q
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 Non-distal monosomy 12q.
Explore research for Non-distal monosomy 12q
Explore actively recruiting Non-distal monosomy 12q studies with HealthSpark.
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- Recruiting studies from ClinicalTrials.gov
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- 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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