Living with Microcephaly-albinism-digital anomalies syndrome
A very rare genetic syndrome with a small head, lighter skin and eye color, and differences in the fingers and toes.
Understanding Microcephaly-albinism-digital anomalies syndrome
GARD describes this syndrome as including a smaller-than-average head, a small lower jaw, and oculocutaneous albinism (lighter coloring of the skin and eyes). The outer bones of some fingers are small, and part of the right big toe may be missing. Signs are usually seen in the newborn period or infancy.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Smaller-than-average head size (microcephaly)
- Delays in reaching developmental milestones
- Light eye color (iris hypopigmentation)
- Patchy lightened skin
- Small lower jaw (micrognathia)
- Short or small outer bones of the fingers and toes
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 genetic specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
Care & treatment
- Care team
- Genetic specialists (geneticists)
- 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 genes (also called variants) cause this syndrome. GARD does not list the specific gene.
Also known as: castro gago pombo novo syndrome; castro gago-pombo-novo syndrome; microcephalus with albinism and digital anomaly syndrome; microcephaly with albinism and digital anomaly 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 Microcephaly-albinism-digital anomalies syndrome.
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