Living with Paternal uniparental disomy of chromosome 14
A chromosome pattern causing Kagami-Ogata syndrome, with developmental delay, feeding trouble, a small bell-shaped chest, and belly wall differences.
Understanding Paternal uniparental disomy of chromosome 14
People have developmental delay, intellectual disability, and feeding and swallowing trouble. A small, bell-shaped chest with coat-hanger-shaped ribs and belly wall differences (omphalocele) are common. Heart disease and a type of liver tumor (hepatoblastoma) have also been reported. Signs begin in newborns and infants.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Coat-hanger shape of the ribs
- Feeding difficulties
- Delays in development
- Large tongue (macroglossia)
- Gap in the belly muscles (diastasis recti)
- Curved spine (kyphoscoliosis)
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 brain and nervous system 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
- Brain and nervous system specialists (neurologists); 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 Ring14 USA and other patient organizations
- 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
Both copies of chromosome 14 come from the father, which causes the condition.
Also known as: kagami-ogata syndrome due to paternal uniparental disomy of chromosome 14; paternal uniparental disomy of chromosome type 14; upd(14)pat; upd14, paternal
Patient organizations
- Ring14 USAPaternal uniparental disomy of chromosome 14 · United States
- Chromosome Disorder OutreachChromosome disorders · United States
You are more than your diagnosis
Perspectives from people navigating life with Paternal uniparental disomy of chromosome 14.
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