Living with Distal monosomy 12p
A rare chromosome condition that often affects speech and language, learning, and behavior.
Understanding Distal monosomy 12p
People with this condition often have delayed language, including childhood apraxia of speech (trouble planning the movements for speech). Mild intellectual disability and behavior differences such as autism spectrum disorder, ADHD, and anxiety may occur. Facial differences are mild and not specific. Some people also have low muscle tone, loose joints, hernias, or a small head. Signs can show up in the newborn and infant years.
Signs & symptoms
GARD doesn't list specific symptoms for this condition separately, but the summary describes these features:
- Delayed language development
- Childhood apraxia of speech
- Mild intellectual disability
- Autism spectrum disorder or ADHD
- Anxiety
- Low muscle tone and loose joints
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
GARD says changes in a person's genes cause this condition. The summary describes it as a partial loss (monosomy) of the short arm of chromosome 12.
Also known as: 12p13.33 microdeletion syndrome; del(12)(p13.33); distal deletion 12p; distal monosomy type 12p
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 Distal monosomy 12p.
Explore research for Distal monosomy 12p
Explore actively recruiting Distal monosomy 12p 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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