Living with Distal monosomy 14q
A rare chromosome condition that can affect development, muscle tone, the heart, and facial features from birth.
Understanding Distal monosomy 14q
The features depend on the size of the missing piece. They can include delays in overall development, low muscle tone, and heart defects present from birth. Facial features may be different, and some babies have a weak, high-pitched cry. Seizures and dental and eye differences have also been reported. Signs are present from the newborn period.
Signs & symptoms
GARD doesn't list common symptoms for this condition, but the summary describes these features:
- Delays in overall development
- Low muscle tone (hypotonia)
- Heart defects present from birth
- Seizures
- Weak, high-pitched cry
- Dental and eye 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
GARD says changes in a person's genes cause this condition. The summary describes it as a loss of part of chromosome 14.
Also known as: distal deletion 14q; distal monosomy 14q syndrome; distal monosomy type 14q; telomeric deletion 14q
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 14q.
Explore research for Distal monosomy 14q
Explore actively recruiting Distal monosomy 14q 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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