Living with Intellectual disability-seizures-macrocephaly-obesity syndrome
A rare syndrome from a chromosome rearrangement, with developmental delay, seizures, a large head, and obesity.
Understanding Intellectual disability-seizures-macrocephaly-obesity syndrome
Features include developmental delay, intellectual disability, obesity starting in childhood, seizures, poor coordination, a wide-based walk, and a large head (macrocephaly). Some people have mild facial differences, eczema, eye differences, and a social personality. It begins in the newborn period or infancy.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Developmental delay and intellectual disability
- Seizures
- Obesity starting in childhood
- Large head (macrocephaly)
- Large tongue (macroglossia)
- Constipation and astigmatism
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, genetic specialists and hormone 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); Hormone specialists (endocrinologists)
- 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 it is due to a complex rearrangement of chromosomes.
Also known as: der(8)t(8; 12); intellectual disability, seizures, macrocephaly, obesity syndrome
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 Intellectual disability-seizures-macrocephaly-obesity syndrome.
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