Living with Hoyeraal-Hreidarsson syndrome
A rare genetic condition, a severe form of dyskeratosis congenita, affecting growth, the brain, immune system, and blood.
Understanding Hoyeraal-Hreidarsson syndrome
It involves slow growth before birth, a small head, a small cerebellum (balance part of the brain), and a weakened immune system. It also involves aplastic anemia, when the bone marrow does not make enough blood cells. Intellectual disability is part of the condition. It is seen in newborns and infants.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Small head (microcephaly)
- Weakened immune system
- Low red blood cells (anemia)
- Low platelet count (thrombocytopenia)
- Global developmental delay
- Poor nail formation (nail dystrophy)
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, blood and bone marrow specialists, brain and nervous system specialists and genetic 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); Blood and bone marrow specialists (hematologists); Brain and nervous system specialists (neurologists); 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
Changes in genes (also called variants) cause this condition. GARD lists autosomal dominant, autosomal recessive, and X-linked inheritance.
Also known as: cerebellar hypoplasia with pancytopenia; hhs; progressive pancytopenia-immunodeficiency-cerebellar hypoplasia 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 Hoyeraal-Hreidarsson syndrome.
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