Living with Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome
A rare genetic syndrome with moderate to severe intellectual disability, a small head, brain differences, and obesity.
Understanding Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome
Brain imaging shows differences such as a thin corpus callosum, a small cerebellum, and changes in white matter. Obesity and distinct facial features are also part of it. It begins in the newborn period or infancy.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Severe intellectual disability
- Small head (microcephaly)
- Brain differences on MRI
- Obesity
- Downturned corners of the mouth
- Differences in the shape of the ears
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.
- 3Consider genetic testing
Changes in TRAPPC9 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
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 rare disease patient organizations for support
- 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 the TRAPPC9 gene cause this condition. It is inherited in an autosomal recessive pattern, meaning a child inherits a changed copy of the gene from each parent.
Also known as: autosomal recessive intellectual disability due to trappc9 (trafficking protein particle complex 9) deficiency; autosomal recessive intellectual disability due to trappc9 deficiency; intellectual disability, obesity, brain malformation, facial dysmorphism syndrome
Patient organizations
Rare-disease groups that can help
- 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-obesity-brain malformations-facial dysmorphism syndrome.
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