Living with Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome
A rare genetic syndrome with a small head size, seizures, vision problems, and developmental delay.
Understanding Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome
It begins in infancy. The head grows more slowly than expected after birth (microcephaly), and seizures start early. Children also have delayed development, vision problems caused by the brain, and intellectual disability. Other features can include short stature, low muscle tone, and repeated lung infections.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Small head size that worsens over time (microcephaly)
- Seizures
- Delays in development
- Vision problems from the brain (cerebral visual impairment)
- Severe intellectual disability
- Short stature and repeated infections
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 allergy and immune system specialists, brain and nervous system specialists, eye disease specialists and genetic specialists.
- 3Consider genetic testing
Changes in DIAPH1 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
- 4Connect with expert centers
Immune Deficiency Foundation may keep lists of experts for this condition.
Care & treatment
- Care team
- Allergy and immune system specialists (allergists / immunologists); Brain and nervous system specialists (neurologists); Eye disease specialists (ophthalmologists); Genetic specialists (geneticists)
- Expert care
- Expert lists: Immune Deficiency Foundation
- 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 Immune Deficiency Foundation
- 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
This condition is caused by changes in the DIAPH1 gene. A child inherits a changed copy of the gene from each parent (autosomal recessive).
Also known as: progressive microcephaly, seizures, cortical blindness, developmental delay syndrome; scbms; seizures, cortical blindness, and microcephaly syndrome; seizures, cortical blindness, microcephaly syndrome
Patient organizations
- Immune Deficiency FoundationPrimary immunodeficiency · 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 Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome.
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