Living with Multiple congenital anomalies due to 14q32.2 maternally expressed gene defect
A rare genetic condition (Kagami-Ogata syndrome) with excess fluid in pregnancy, a larger size at birth, chest and belly wall differences, and developmental delay.
Understanding Multiple congenital anomalies due to 14q32.2 maternally expressed gene defect
Features include extra amniotic fluid (polyhydramnios) linked with a large placenta, larger size at birth, belly wall defects, and a bell-shaped chest with coat-hanger-looking ribs. Babies may have feeding and swallowing difficulties, certain facial features, developmental delay, and intellectual disability. There is a higher chance of a liver tumor called hepatoblastoma. Signs are seen during pregnancy, at birth, or in infancy.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Bell-shaped chest and coat-hanger ribs
- Larger than usual size at birth
- Feeding difficulties
- Delays in reaching developmental milestones
- Intellectual disability
- Gap between the belly muscles (diastasis recti)
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 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
Changes in genes (also called variants) in the 14q32.2 region cause this condition. GARD lists autosomal dominant inheritance, and refers to a defect in a maternally expressed gene.
Also known as: kagami ogata syndrome; kagami-ogata syndrome; mca due to 14q32.2 maternally expressed gene defect
Patient organizations
- Chromosome Disorder OutreachMultiple congenital anomalies due to 14q32.2 maternally expressed gene defect · United States
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