Living with Agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome
A rare inherited condition with very low antibodies, small head size, skull differences, cleft palate, and severe skin inflammation.
Understanding Agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome
B cells, which make antibodies, are very low (agammaglobulinemia), while T cells are normal. Other features include severe developmental delay, a small head (microcephaly), early closing of skull bones (craniosynostosis), cleft palate, narrow nasal passages, narrow eyelid openings, and severe dermatitis. It is present from pregnancy or infancy.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Low B cells (low antibodies)
- Small head size (microcephaly)
- Cleft palate
- Early closing of skull bones (craniosynostosis)
- Developmental delay
- Skin inflammation (seborrheic dermatitis)
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, genetic specialists and skin, hair, and nail specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
- 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); Genetic specialists (geneticists); Skin, hair, and nail specialists (dermatologists)
- 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 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
GARD says changes in genes cause this condition. A child inherits a changed copy of a gene from each parent (autosomal recessive), but GARD doesn't name a gene.
Patient organizations
- Immune Deficiency FoundationPrimary immunodeficiency · United States
- Children's Skin Disease FoundationSkin diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome.
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