Living with Microcephaly-capillary malformation syndrome
An inherited condition with a small head, seizures, severe developmental delay, and pink or red spots on the skin.
Understanding Microcephaly-capillary malformation syndrome
Microcephaly begins before birth and comes with an unusually small brain and other brain differences. People develop seizures that can happen many times a day and are hard to treat. They have profound developmental delay and intellectual disability. Skin spots (capillary malformations) are present at birth. Other features include feeding difficulties, slow growth, and small or missing fingernails and toenails.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Pink or red spots on the skin (capillary malformations)
- Small head that grows slowly (progressive microcephaly)
- Infantile spasms (a type of seizure)
- Delays in reaching developmental milestones
- Sudden muscle jerks (myoclonus)
- Damage to the optic nerve (optic atrophy)
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.
- 3Consider genetic testing
Changes in STAMBP 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
Vascular Birthmarks Foundation may keep lists of experts for this condition.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); Genetic specialists (geneticists)
- Expert care
- Expert lists: Vascular Birthmarks 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 Vascular Birthmarks Foundation and other patient organizations
- 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 STAMBP gene. It is autosomal recessive, which means a child inherits a changed copy of the gene from each parent.
Also known as: mic-cap syndrome; mic-cm syndrome; miccap; microcephaly-cutaneous capillary malformation syndrome
Patient organizations
- Vascular Birthmarks FoundationMicrocephaly-capillary malformation syndrome · United States
- Child Neurology FoundationMicrocephaly-capillary malformation syndrome · United States
You are more than your diagnosis
Perspectives from people navigating life with Microcephaly-capillary malformation syndrome.
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