Living with Distal monosomy 13q
A rare chromosome condition with wide-ranging effects on learning, the brain, eyes, and face.
Understanding Distal monosomy 13q
Effects vary a great deal from person to person. People often have some level of intellectual disability and developmental delay. Differences in the brain's structure, eye differences, and facial features such as a small head and small lower jaw can occur. Heart, kidney and urinary, digestive, and bone differences have also been reported. Signs can begin during pregnancy, at birth, or in infancy.
Signs & symptoms
GARD doesn't list common symptoms for this condition, but the summary describes these features:
- Intellectual disability
- Delays in development
- Differences in brain structure
- Eye differences
- Small head and small lower jaw
- Heart, digestive, or kidney 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 digestive system specialists, eye disease 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
- Digestive system specialists (gastroenterologists); Eye disease specialists (ophthalmologists); 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 of the long arm of chromosome 13.
Also known as: 13q32 deletion; anal atresia, hypospadias, and penoscrotal inversion; deletion 13q32; distal 13q deletion; distal monosomy type 13q; monosomy 13q32
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 13q.
Explore research for Distal monosomy 13q
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- Eligibility is confirmed by the study team
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