Living with Hennekam lymphangiectasia-lymphedema syndrome
An inherited condition of the lymph system that causes swelling, intestinal problems, and distinct facial features.
Understanding Hennekam lymphangiectasia-lymphedema syndrome
Lymph vessels are widened (lymphangiectasia), especially those near the intestines. This can cause fluid buildup in the abdomen and problems absorbing nutrients. Swelling (lymphedema) of the face and limbs is often noticeable at birth, is usually uneven, and slowly worsens. Facial features can include a flat face and widely spaced eyes. It appears in childhood.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Swelling from fluid buildup (lymphedema)
- Fluid in the belly (ascites)
- Flat face and flat nose bridge
- Gum overgrowth
- Intellectual disability
- Enlarged spleen
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 (also called variants) cause this condition. It is autosomal recessive, so a child inherits a changed copy of the gene from each parent.
Also known as: hennekam lymphangiectasia lymphedema syndrome; hennekam syndrome; intestinal lymphagiectasia lymphedema intellectual deficit syndrome; lymphangiectasies and lymphedema hennekam type; lymphedem-lymphangiectasia-intellectual disability syndrome; lymphedema-lymphangiectasia-intellectual disability syndrome
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 Hennekam lymphangiectasia-lymphedema syndrome.
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