Living with Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome
A rare genetic condition with a small head from birth, mild intellectual disability, short stature, seizures and diabetes in the teens or young adulthood.
Understanding Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome
People are born with a small head and low birth weight and have short stature, developmental delay and mild intellectual disability. Seizures can begin in childhood and diabetes in the teen years or young adulthood. Walking trouble, skeletal differences and liver scarring in infancy may also occur. Brain shape is typically normal.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Small head from birth (microcephaly)
- Short stature and low birth weight
- Developmental delay and mild intellectual disability
- Seizures
- Diabetes in the teen years or early adulthood
- Delayed puberty
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 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
GARD says changes in genes cause this condition but doesn't name a gene. It is autosomal recessive, meaning a child inherits a changed copy of the gene from each parent.
Also known as: primary microcephaly, mild intellectual disability, young-onset diabetes 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 Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome.
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